{"text_format":"1","workbook":"xlsx","n_sheets":17,"sheets":["Instructions","Form","Update","Ataxia Panel","CMT Panel","Complex Immune Dysregulation","Epilepsy","Growth and Related Disorders","Retinal Dystrophy","Movement Disorders","Spastic Paraplegia","Inputs","Inputs_Update","Disease_Gene_List","HPO_Check","HPO_terms","Back_End"],"not_rendered":{"charts":0,"images":3,"macros":1,"external_links":0,"defined_names":2,"comments":0,"pivot_tables":0},"unopened":[],"bounds":{"document_bytes":16777216,"sheet_cells":100000,"rows_first":2000,"rows_last":500,"rows_between":2000,"halvings":0,"cell_chars":16384,"cell_head_chars":4096},"cells_cut":0,"cells_raw":0,"read":"whole","date_system":"1900"}

{"sheet":"Instructions","index":0,"n_rows":13,"n_cols":3,"rows_kept":13,"cut":false,"hidden":false,"merged":[]}
[null,"Instructions","Form Version 3 \n(Apr 9, 2024)"]
[]
[null,"Use the \"Form\" sheet to create a TIGeR order. Required fields are marked with a red star. A proband with up to two family members can be added on this sheet."]
[]
[null,"Use the \"Update\" sheet to update or add case information (such as new phenotypic information or genes of interest) or to add an additional family member. This form can be used at the time of order if more than two family members are required for the case (i.e. A trio plus a sibling) or it can be submitted after the case is created as an update."]
[]
[null,"Use the \"Update\" sheet to request reanalysis. Please add new clinical information and HPO terms into the 'Add information' box or notification if there is no updated phenotype. "]
[]
[null,"Save the completed form to your computer and then email the file to Tiger.Team@albertaprecisionlabs.ca. A button is provided to complete this step, but it can also be completed manually. When the form is received, the Tiger team will respond to your email with a Case ID that can be used for reference."]
[]
[null,"Questions can be directed to Tiger.Team@albertaprecisionlabs.ca"]
[]
[null,"Use the buttons below to view or hide the panel content sheets"]

{"sheet":"Form","index":1,"n_rows":103,"n_cols":18,"rows_kept":103,"cut":false,"hidden":false,"merged":[[69,3,69,6],[67,8,67,11],[90,3,90,6],[90,8,90,11],[86,3,86,6],[86,8,86,11],[86,13,86,16],[88,8,88,11],[88,13,88,16],[18,13,18,16],[20,13,20,16],[69,8,69,11],[32,3,32,6],[32,8,32,11],[34,11,34,16],[31,13,31,16],[20,8,20,11],[29,3,29,6],[29,8,29,11],[29,13,29,16],[63,3,63,6],[63,8,63,11],[63,13,63,16],[35,3,46,9],[48,2,48,5],[35,11,38,16],[5,2,5,4],[7,12,9,16],[11,12,12,16],[24,2,24,5],[27,3,27,6],[27,8,27,11],[27,13,27,16],[12,2,12,5],[20,3,20,6],[22,3,22,6],[22,8,22,11],[18,3,18,6],[18,8,18,11],[98,3,99,16],[1,2,1,15],[77,3,78,16],[81,2,81,5],[84,3,84,6],[84,8,84,11],[84,13,84,16],[65,3,65,6],[65,8,65,11],[65,13,65,16],[53,7,57,16],[51,7,51,16],[60,2,60,5],[67,13,67,16],[15,2,15,5],[3,2,3,5]]}
[]
[null,null,"Genome Wide Sequencing Order Form"]
[]
[null,null,"Test information",null,null,null,null,null,null,null,null,null,null,null,"Tiger.Team@albertaprecisionlabs.ca"]
[]
[null,null,"Test Type",null,null,null,null,"Panel Selection"]
[null,null,null,null,null,null,null,"(multiple panels can be selected)",null,null,null,null,"Add genes to panel (semicolon separated list)"]
[null,null,null,null,null,"*"]
[]
[]
[null,null,null,null,null,null,null,null,null,null,null,null,"Reason for adding these genes (Required if adding genes)"]
[]
[]
[]
[]
[null,null,"Provider information"]
[]
[null,null,null,"Geneticist Name",null,null,null,null,"Geneticist Email",null,null,null,null,"Phone number for case discussion"]
[null,null,null,null,null,null,null,"*",null,null,null,null,"*"]
[null,null,null,"Clinic Contact Name",null,null,null,null,"Clinic Contact Email"]
[null,null,null,null,null,null,null,"*",null,null,null,null,"*"]
[null,null,null,"Copy to Name (multiple names are ok)",null,null,null,null,"Copy to Email (multiple email addresses should be semicolon delimited)"]
[]
[]
[null,null,"Proband information"]
[]
[null,null,null,"First Name",null,null,null,null,"Last Name",null,null,null,null,"Preferred Name"]
[null,null,null,null,null,null,null,"*",null,null,null,null,"*"]
[null,null,null,"Date of Birth(MMM/DD/YYYY)",null,null,null,null,"Alberta Health Number (no dash)",null,null,null,null,"Sex at Birth"]
[null,null,null,null,null,null,null,"*",null,null,null,null,"*",null,null,null,null,"*"]
[null,null,null,"Consent to contact for",null,null,null,null,null,null,null,null,null,"Gender Identity (if different from sex at birth)"]
[null,null,null,"Email",null,null,null,null,"Phone"]
[null,null,null,null,null,null,null,{"$f":"IF(OR(Inputs!L13=TRUE, Inputs!L19=TRUE),\"*\", \"\")","v":""},null,null,null,null,{"$f":"IF(OR(Inputs!L13=TRUE, Inputs!L19=TRUE),\"*\", \"\")","v":""}]
[]
[null,null,null,"Describe all clinical findings (attach supporting materials if relevant)",null,null,null,null,null,null,null,"Human Phenotype Ontology (HPO) Terms (semicolon separated list)"]
[null,null,null,null,null,null,null,null,null,null,"*"]
[]
[]
[]
[]
[]
[]
[]
[]
[null,null,null,null,null,null,null,null,null,null,null,"Analysis for Secondary Findings (not available for panel testing)"]
[]
[]
[null,null,null,"ALT + ENTER = New line"]
[null,null,"Family history"]
[]
[null,null,null,"Family history of condition",null,null,null,"Ethnic Background"]
[]
[null,null,null,null,null,"*",null,"Notes"]
[]
[]
[]
[]
[]
[]
[]
[null,null,"Add Family Member (Optional)"]
[]
[null,null,null,"First Name",null,null,null,null,"Last Name",null,null,null,null,"Ethnic Background"]
[null,null,null,null,null,null,null,"*",null,null,null,null,"*"]
[null,null,null,"Date of Birth(MMM/DD/YYYY)",null,null,null,null,"Personal Health Number",null,null,null,null,"Sex at Birth"]
[null,null,null,null,null,null,null,"*",null,null,null,null,"*",null,null,null,null,"*"]
[null,null,null,"Consent to contact for",null,null,null,null,"Province",null,null,null,null,"Gender Identity (if different from sex at birth)"]
[]
[null,null,null,"Email",null,null,null,null,"Phone"]
[null,null,null,null,null,null,null,{"$f":"IF(OR(Inputs!V14=TRUE, Inputs!V21=TRUE),\"*\", \"\")","v":""},null,null,null,null,{"$f":"IF(OR(Inputs!V14=TRUE, Inputs!V21=TRUE),\"*\", \"\")","v":""}]
[]
[null,null,null,"Relationship to Proband",null,null,null,"Phenotype"]
[]
[null,null,null,null,null,"*   ",null,null,null,"*   "]
[null,null,null,null,null,null,null,null,null,null,null,"Analysis for Secondary Findings (not available for panel testing)"]
[]
[null,null,null,"Notes"]
[]
[]
[]
[]
[null,null,"Add Family Member (Optional)"]
[]
[null,null,null,"First Name",null,null,null,null,"Last Name",null,null,null,null,"Ethnic Background"]
[null,null,null,null,null,null,null,"*",null,null,null,null,"*"]
[null,null,null,"Date of Birth(MMM/DD/YYYY)",null,null,null,null,"Personal Health Number",null,null,null,null,"Sex at Birth"]
[null,null,null,null,null,null,null,"*",null,null,null,null,"*",null,null,null,null,"*"]
[null,null,null,"Consent to contact for",null,null,null,null,"Province",null,null,null,null,"Gender Identity (if different from sex at birth)"]
[]
[null,null,null,"Email",null,null,null,null,"Phone"]
[null,null,null,null,null,null,null,{"$f":"IF(OR(Inputs!AA14=TRUE, Inputs!AA21=TRUE),\"*\", \"\")","v":""},null,null,null,null,{"$f":"IF(OR(Inputs!AA14=TRUE, Inputs!AA21=TRUE),\"*\", \"\")","v":""}]
[]
[null,null,null,"Relationship to Proband",null,null,null,"Phenotype"]
[]
[null,null,null,null,null,"*   ",null,null,null,"*   "]
[null,null,null,null,null,null,null,null,null,null,null,"Analysis for Secondary Findings (not available for panel testing)"]
[]
[null,null,null,"Notes"]
[]
[]
[]
[]
[null,null,null,null,null,null,"Questions can be directed to Tiger.Team@albertaprecisionlabs.ca"]

{"sheet":"Update","index":2,"n_rows":55,"n_cols":18,"rows_kept":55,"cut":false,"hidden":false,"merged":[[12,2,12,5],[33,3,33,6],[33,8,33,11],[14,25,16,26],[14,30,16,31],[14,2,14,4],[16,12,18,16],[14,22,16,23],[48,3,51,5],[41,3,42,16],[45,2,45,5],[48,7,51,9],[48,11,51,16],[1,4,1,15],[31,13,31,16],[27,13,27,16],[29,3,29,6],[29,8,29,11],[29,13,29,16],[20,12,21,16],[21,2,21,5],[27,3,27,6],[27,8,27,11],[31,8,31,11],[3,2,3,5],[6,3,6,6],[6,8,6,11],[9,8,9,11],[9,3,9,6]]}
[]
[null,null,null,null,"Genome Wide Sequencing Update Form - Add Information or Patient to Existing Case"]
[]
[null,null,"Case Information (required)",null,null,null,null,null,null,null,null,null,null,null,"Tiger.Team@albertaprecisionlabs.ca"]
[]
[null,null,null,"Index First Name",null,null,null,null,"Index Last Name",null,null,null,null,"Main Reason for Request"]
[null,null,null,null,null,null,null,"*",null,null,null,null,"*"]
[null,null,null,null,null,null,null,null,null,null,null,null,null,null,null,null,"*"]
[null,null,null,"Index DOB MMM/DD/YYYY",null,null,null,null,"Case Number (if known)"]
[null,null,null,null,null,null,null,"*"]
[]
[]
[null,null,"Test information (if applicable)"]
[]
[null,null,"Test Type",null,null,null,null,"Panel Selection"]
[null,null,null,null,null,null,null,"(multiple panels can be selected)",null,null,null,null,"Add Genes to Panel (semicolon separated list)"]
[null,null,null,null,null,"*"]
[]
[]
[null,null,null,null,null,null,null,null,null,null,null,null,"Reason for Adding These Genes (phenotype)"]
[]
[]
[]
[]
[null,null,"Add Family Member (if applicable)"]
[]
[null,null,null,"First Name",null,null,null,null,"Last Name",null,null,null,null,"Ethnic Background"]
[null,null,null,null,null,null,null,"*",null,null,null,null,"*"]
[null,null,null,"Date of Birth(MMM/DD/YYYY)",null,null,null,null,"Personal Health Number",null,null,null,null,"Sex at Birth"]
[null,null,null,null,null,null,null,"*",null,null,null,null,"*",null,null,null,null,"*"]
[null,null,null,"Consent to contact for",null,null,null,null,"Province",null,null,null,null,"Gender Identity (if different from sex at birth)"]
[]
[null,null,null,"Email",null,null,null,null,"Phone"]
[null,null,null,null,null,null,null,{"$f":"IF(OR(Inputs_Update!L14=TRUE, Inputs_Update!L21=TRUE),\"*\", \"\")","v":""},null,null,null,null,{"$f":"IF(OR(Inputs_Update!L14=TRUE, Inputs_Update!L21=TRUE),\"*\", \"\")","v":""}]
[]
[null,null,null,"Relationship to Proband",null,null,null,"Phenotype"]
[]
[null,null,null,null,null,"*   ",null,null,null,"*   "]
[null,null,null,null,null,null,null,null,null,null,null,"Analysis for Secondary Findings (not available for panel testing)"]
[]
[null,null,null,"Notes"]
[]
[]
[]
[]
[null,null,"Add Information (if applicable)"]
[]
[null,null,null,"HPO terms (semicolon separated list)",null,null,null,"Genes (semicolon separated list)",null,null,null,"Change to: Reanalysis information (e.g., new phenotypic information)"]
[]
[]
[]
[]
[]
[]
[null,null,null,null,null,null,"Questions can be directed to Tiger.Team@albertaprecisionlabs.ca"]

{"sheet":"Ataxia Panel","index":3,"n_rows":221,"n_cols":5,"rows_kept":221,"cut":false,"hidden":true,"merged":[[0,1,0,4]]}
[null,"Ataxia Panel"]
[null,"Gene","Previous Symbols","Alias Symbols","Disease Association"]
[null,"AARS2","AARSL","KIAA1270, BA444E17.1","Combined Oxidative Phosphorylation Deficiency 8"]
[null,"ABCA2","ABC2","","Intellectual Developmental Disorder With Poor Growth And With Or Without Seizures Or Ataxia"]
[null,"ABCB7","ABC7","EST140535, ATM1P, ASAT","Anemia Sideroblastic With Ataxia"]
[null,"ABCD1","ALD","AMN, ALDP, ADRENOLEUKODYSTROPHY","Adrenoleukodystrophy X-Linked"]
[null,"ABHD12","C20ORF22","DKFZP434P106, DJ965G21.2, BEM46L2, ABHD12A","Polyneuropathy Hearing Loss Ataxia Retinitis Pigmentosa And Cataract"]
[null,"ACO2","","ACONM","Infantile Cerebellar-Retinal Degeneration"]
[null,"ADPRS","ADPRHL2","ARH3, FLJ20446","Neurodegeneration With Developmental Delay Ataxia And Axonal Neuropathy"]
[null,"AFG3L2","SCA28","SPAX5","Ataxia Spastic 5 Autosomal Recessive"]
[null,"AGTPBP1","","KIAA1035, NNA1, CCP1","Neurodegeneration Childhood-Onset With Cerebellar Atrophy"]
[null,"AHI1","","FLJ20069, ORF1, JBTS3","Joubert Syndrome"]
[null,"ALDH5A1","","SSADH, SSDH","Succinate-Semialdehyde Dehydrogenase Deficiency"]
[null,"ANO10","TMEM16K","FLJ10375, MGC47890, SCAR10","Spinocerebellar Ataxia Autosomal Recessive 10"]
[null,"APTX","AXA1","FLJ20157, AOA, AOA1, EAOH, EOAHA","Ataxia With Oculomotor Apraxia 1"]
[null,"ARL13B","ARL2L1","DKFZP761H079, JBTS8","Joubert Syndrome 8"]
[null,"ARL6","BBS3","RP55","Bardet-Biedl Syndrome"]
[null,"ATCAY","","BNIP-H","Cerebellar Ataxia Cayman Type"]
[null,"ATM","ATA, ATDC, ATC, ATD","TEL1, TELO1","Ataxia-Telangiectasia"]
[null,"ATP13A2","PARK9","HSA9947, CLN12","Spastic Paraplegia 78 Autosomal Recessive"]
[null,"ATP1A3","DYT12","","Alternating Hemiplegia Of Childhood"]
[null,"ATP2B3","SCAX1, CLA2","PMCA3, CFAP39","Spinocerebellar Ataxia X-Linked 1"]
[null,"ATP7B","WND","","Wilson Disease"]
[null,"ATP8A2","","ATPIB, ML-1","Cerebellar Ataxia Mental Retardation And Dysequilibrium Syndrome 4"]
[null,"AUH","","","3-Methylglutaconic Aciduria Type 1"]
[null,"BBS1","","FLJ23590","Bardet-Biedl Syndrome Type 1"]
[null,"BBS10","C12ORF58","FLJ23560","Bardet-Biedl Syndrome Type 10"]
[null,"BBS12","C4ORF24","FLJ35630, FLJ41559","Bardet-Biedl Syndrome Type 12"]
[null,"BBS2","BBS","","Bardet-Biedl Syndrome Type 2"]
[null,"BBS4","","","Bardet-Biedl Syndrome Type 4"]
[null,"BBS5","","DKFZP762I194","Bardet-Biedl Syndrome Type 5"]
[null,"BBS7","","FLJ10715, BBS2L1","Bardet-Biedl Syndrome Type 7"]
[null,"BBS9","","B1, PTHB1","Bardet-Biedl Syndrome Type 9"]
[null,"BEAN1","SCA31","","Spinocerebellar Ataxia 31"]
[null,"C12ORF4","","","Mental Retardation Autosomal Recessive 66"]
[null,"CA8","CALS","CARP","Cerebellar Ataxia Mental Retardation And Dysequilibrium Syndrome Type 3"]
[null,"CACNA1A","CACNL1A4, SCA6, MHP1, MHP","CAV2.1, EA2, APCA, HPCA, FHM","Epileptic Encephalopathy"]
[null,"CACNA1G","","CAV3.1, NBR13","Cacna1G-Related Developmental Disorder Monoallelic"]
[null,"CACNA2D2","","KIAA0558","Cerebellar Atrophy With Seizures And Variable Developmental Delay"]
[null,"CACNB4","","EJM4","Juvenile Myoclonic Epilepsy"]
[null,"CAMTA1","","KIAA0833","Cerebellar Ataxia Nonprogressive With Mental Retardation"]
[null,"CAPN1","","MUCANP, MUCL, CANP, CANPL1","Spastic Paraplegia 76 Autosomal Recessive"]
[null,"CASK","TNRC8","LIN2, CAGH39, FGS4","Early Infantile Epileptic Encephalopathy"]
[null,"CC2D2A","","KIAA1345, MKS6, JBTS9","Joubert Syndrome 9"]
[null,"CCDC88C","KIAA1509","DAPLE, HKRP2, SCA40","Spinocerebellar Ataxia 40"]
[null,"CEP290","","KIAA0373, FLJ13615, 3H11AG, RD16, NPHP6, JBTS5, SLSN6, LCA10, MKS4, BBS14, CT87, POC3","Joubert Syndrome Type 5"]
[null,"CEP41","TSGA14","DKFZP762H1311, FLJ22445, JBTS15","Joubert Syndrome 15"]
[null,"CHCHD10","C22ORF16","N27C7-4, MIX17A","Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2"]
[null,"CLCN2","","CLC2, EJM6, CLC-2","Leukoencephalopathy With Ataxia"]
[null,"CLN5","","","Neuronal Ceroid Lipofuscinosis Type 5"]
[null,"CLN6","","FLJ20561, HST18960, NCLF","Ceroid Lipofuscinosis Neuronal 6"]
[null,"CLN8","EPMR, C8ORF61","FLJ39417, TLCD6","Neuronal Ceroid Lipofuscinosis Type 8"]
[null,"CLPB","","HSP78, SKD3, FLJ13152, ANKCLB","3-Methylglutaconic Aciduria Type Vii With Cataracts Neurologic Involvement And Neutropenia"]
[null,"CLPP","","","Perrault Syndrome"]
[null,"COA7","C1ORF163, SELRC1","FLJ12439, RESA1","Spinocerebellar Ataxia Autosomal Recessive With Axonal Neuropathy 3"]
[null,"COASY","","DPCK, NBP, PPAT","Neurodegeneration With Brain Iron Accumulation"]
[null,"COQ2","","CL640, FLJ26072","Coenzyme Q10 Deficiency"]
[null,"COQ4","","CGI-92","Coenzyme Q10 Deficiency Primary 7"]
[null,"COQ8A","CABC1, ADCK3","COQ8, SCAR9","Coenzyme Q10 Deficiency"]
[null,"COX20","FAM36A","FLJ43269","Mitochondrial Complex Iv Deficiency Nuclear Type 11"]
[null,"CP","","","Aceruloplasminemia Hypoceruloplasminemia Included"]
[null,"CPLANE1","C5ORF42","FLJ13231, JBTS17, HUG","Joubert Syndrome"]
[null,"CSTB","EPM1, STFB","CST6, PME","Unverricht-Lundborg Disease"]
[null,"CTBP1","","BARS","Ctbp1-Related Developmental Disorder Monoallelic"]
[null,"CTDP1","","FCP1","Congenital Cataracts Facial Dysmorphism And Neuropathy Syndrome"]
[null,"CTSA","GSL, PPGB","","Galactosialidosis"]
[null,"CWF19L1","","FLJ10998, HDRN1","Spinocerebellar Ataxia Autosomal Recessive 17"]
[null,"CYP27A1","CYP27","CTX, CP27","Cerebrotendinous Xanthomatosis"]
[null,"CYP2U1","SPG56","SPG49","Hereditary Spastic Paraplegia"]
[null,"CYP7B1","SPG5A","","Spastic Paraplegia 5A Autosomal Recessive"]
[null,"DHPS","","MIG13","Neurodevelopmental Disorder Of Hypusination"]
[null,"DNAJC19","","TIMM14, TIM14, PAM18","3-Methylglutaconic Aciduria Type V"]
[null,"DNAJC5","CLN4","FLJ00118, FLJ13070, DNAJC5A","Ceroid Lipofuscinosis Neuronal 4B Autosomal Dominant"]
[null,"DNMT1","DNMT","MCMT, CXXC9","Neuropathy Hereditary Sensory Type Ie"]
[null,"DOCK3","","KIAA0299, MOCA, PBP","Neurodevelopmental Disorder With Impaired Intellectual Development Hypotonia And Ataxia"]
[null,"EBF3","","COE3, DKFZP667B0210","Intellectual Disability Ataxia And Facial Dysmorphism"]
[null,"EEF2","EF2","EEF-2","Eef2-Related Developmental Disorder Monoallelic"]
[null,"ELOVL4","STGD2, STGD3, SCA34","CT118","Ichthyosis Spastic Quadriplegia And Mental Retardation"]
[null,"ELOVL5","SCA38","HELO1, DJ483K16.1","Spinocerebellar Ataxia 38"]
[null,"FA2H","FAXDC1, SPG35","FAAH, FLJ25287","Spastic Paraplegia 35 Autosomal Recessive"]
[null,"FBXL4","","FBL4, FBL5","Fatal Encephalopathy Lactic Acidosis And Severe Mtdna Depletion In Muscle"]
[null,"FDXR","ADXR","ADR","Auditory Neuropathy And Optic Atrophy"]
[null,"FGF14","","FHF4, SCA27","Fgf14-Related Episodic Ataxia"]
[null,"FLVCR1","AXPC1","FLVCR, MFSD7B, PCA, SLC49A1","Ataxia Posterior Column With Retinitis Pigmentosa"]
[null,"FMR1","POF1, POF","FMRP, FRAXA, MGC87458","Fragile X Syndrome"]
[null,"FXN","FRDA","FA, FARR, X25, CYAY","Friedreich Ataxia"]
[null,"GBA2","SPG46","KIAA1605, AD035, DKFZP762K054","Autosomal-Recessive Cerebellar Ataxia With Spasticity."]
[null,"GFAP","","FLJ45472","Alexander Disease"]
[null,"GOSR2","","GS27, BOS1","Epilepsy Progressive Myoclonic 6"]
[null,"GRID2","","GLUD2, GLUR-DELTA-2","Grid2-Related Cerebellar Ataxia Biallelic"]
[null,"GRM1","","GPRC1A, MGLU1, MGLUR1, PPP1R85","Congenital Cerebellar Ataxia"]
[null,"GSS","","","Glutathione Synthetase Deficiency"]
[null,"HARS2","HARSL","HO3, HARSR","Perrault Syndrome 2"]
[null,"HEXB","","","Gm2-Gangliosidosis Type 2"]
[null,"HIBCH","","","Neurodegeneration Due To 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency"]
[null,"INPP5E","JBTS1","PPI5PIV, CORS1, PHARBIN","Joubert Syndrome Type 1"]
[null,"IRF2BPL","C14ORF4","EAP1, KIAA1865","Neurodevelopmental Disorder With Regression Abnormal Movements Loss Of Speech And Seizures"]
[null,"ITM2B","","BRI, E25B, E3-16, BRICD2B, BRI2","Cerebral Amyloid Angiopathy Itm2B-Related 1"]
[null,"ITPR1","SCA15, SCA16, SCA29","INSP3R1, IP3R1, ACV, PPP1R94","Spinocerebellar Ataxia 29 Congenital Nonprogressive"]
[null,"KCNA1","AEMK","KV1.1, RBK1, HUK1, MBK1","Early Infantile Epileptic Encephalopathy"]
[null,"KCNC3","SCA13","KV3.3","Spinocerebellar Ataxia Type 13"]
[null,"KCND3","SCA22, SCA19","KV4.3, KSHIVB","Kcnd3-Related Developmental Disorder Monoallelic"]
[null,"KCNJ10","","KIR4.1, KIR1.2","Seizures-Sensorineural Deafness-Ataxia-Mental Retardation-Electrolyte Imbalance"]
[null,"KIF1C","SAX2","SPAX2, SPG58","Spastic Ataxia 2 Autosomal Recessive"]
[null,"KIF5A","SPG10","D12S1889, NKHC, MY050","Spastic Paraplegia 10 Autosomal Dominant"]
[null,"KIF7","","JBTS12","Acrocallosal Syndrome"]
[null,"LAMA1","LAMA","","Cerebellar Dysplasia With Cysts With Or Without Retinal Dystrophy"]
[null,"LARS2","","KIAA0028, LEURS, MGC26121, MTLEURS","Perrault Syndrome"]
[null,"LMNB1","","","Lmnb1-Associated Developmental Disorder"]
[null,"LRPPRC","LSFC","GP130, LRP130","Leigh Syndrome French Canadian Type"]
[null,"LRSAM1","","FLJ31641, CMT2P, RIFLE, TAL","Charcot-Marie-Tooth Disease Axonal Type 2P"]
[null,"MARS2","","MTMETRS, SPAX3","Combined Oxidative Phosphorylation Deficiency 25"]
[null,"MECR","","CGI-63, NRBF1, FASN2B, ETR1","Childhood-Onset Dystonia And Optic Atrophy"]
[null,"MGME1","C20ORF72","BA504H3.4, DDK1","Mitochondrial Dna Depletion Syndrome 11"]
[null,"MKKS","BBS6","","Mckusick-Kaufman Syndrome"]
[null,"MKS1","MKS","FLJ20345, POC12, BBS13","Bardet-Biedl Syndrome Type 13"]
[null,"MME","","CALLA, CD10, NEP","Spinocerebellar Ataxia 43"]
[null,"MRE11","MRE11A","ATLD","Ataxia Telangiectasia-Like Disorder"]
[null,"MSTO1","","FLJ10504, LST005, MST, MISATO","Myopathy Mitochondrial And Ataxia"]
[null,"MTFMT","","FMT1","Mitochondrial Complex I Deficiency Nuclear Type 27"]
[null,"MTPAP","PAPD1","FLJ10486, SPAX4, TENT6","Spastic Ataxia 4 Autosomal Recessive"]
[null,"MTTP","MTP","ABL","Abetalipoproteinemia"]
[null,"NDUFAF6","C8ORF38","MGC40214","Mitochondrial Complex I Deficiency Nuclear Type 17"]
[null,"NDUFS2","","CI-49","Mitochondrial Complex I Deficiency Nuclear Type 6"]
[null,"NDUFS4","","AQDQ, CI-18","Leigh Syndrome"]
[null,"NDUFS7","","PSST, FLJ46880, FLJ45860, CI-20","Mitochondrial Respiratory Chain Complex I Deficiency"]
[null,"NDUFS8","","TYKY, CI-23K","Mitochondrial Respiratory Chain Complex I Deficiency"]
[null,"NDUFV1","","CI-51K","Mitochondrial Complex I Deficiency"]
[null,"NKX2-1","NKX2A, BCH, TITF1","TTF-1, TTF1","Choreoathetosis Hypothyroidism And Neonatal Respiratory Distress"]
[null,"NKX6-2","","NKX6B, GTX, NKX6.1","Progressive Spastic Ataxia And Hypomyelination"]
[null,"NOL3","","ARC, NOP30, MYP, CARD2","Myoclonus Familial 1"]
[null,"NPC1","","SLC65A1","Niemann-Pick Disease Type C1"]
[null,"NPC2","","HE1, NP-C2, EDDM1","Niemann-Pick Disease Type C2"]
[null,"NPHP1","NPH1","JBTS4, SLSN1","Bardet-Biedl Syndrome"]
[null,"NUBPL","C14ORF127","FLJ12660, IND1, HUIND1","Mitochondrial Complex I Deficiency"]
[null,"OFD1","CXORF5, RP23","71-7A, JBTS10","Joubert Syndrome Type 10"]
[null,"OPA1","","NTG, KIAA0567, FLJ12460, NPG, MGM1","Behr Syndrome"]
[null,"OPHN1","MRX60","OPN1, ARHGAP41","Mental Retardation X-Linked Ophn1-Related"]
[null,"PANK2","C20ORF48, NBIA1","HSS, FLJ11729, PKAN, HARP","Neurodegeneration With Brain Iron Accumulation 1"]
[null,"PAX6","AN1, AN2","D11S812E, AN, WAGR","Aniridia"]
[null,"PDYN","SCA23","PENKB, ADCA","Spinocerebellar Ataxia 23"]
[null,"PEX10","","RNF69","Peroxisome Biogenesis Disorder Complementation Group 7"]
[null,"PEX16","","","Peroxisome Biogenesis Disorder Complementation Group 9"]
[null,"PEX2","PXMP3","PMP35, PAF-1, RNF72, ZWS3","Peroxisome Biogenesis Disorder Complementation Group 5"]
[null,"PEX3","","","Peroxisome Biogenesis Disorder Complementation Group 12"]
[null,"PEX6","","PXAAA1, PAF-2","Peroxisome Biogenesis Disorder Complementation Group 4"]
[null,"PEX7","","PTS2R, RD","Peroxisome Biogenesis Disorder Complementation Group 11"]
[null,"PHYH","","PAHX, RD, PHYH1","Refsum Disease Classic"]
[null,"PMM2","CDG1","CDGS, CDG1A, PMI, PMI1","Congenital Disorders Of Glycosylation"]
[null,"PNKD","","DYT8, PDC, DKFZP564N1362, FPD1, MR-1, BRP17, FKSG19, TAHCCP2, KIAA1184, KIPP1184, MGC31943, PKND1, MR-1S","Paroxysmal Nonkinesigenic Dyskinesia 1"]
[null,"PNKP","","PNK","Ataxia-Oculomotor Apraxia 4"]
[null,"PNPLA6","","NTE, SWS, IPLA2DELTA, SPG39","Laurence-Moon Syndrome"]
[null,"POLG","","POLG1, POLGA","Mitochondrial Dna Depletion Syndrome 4A"]
[null,"PRKCG","PKCG, SCA14","PKCC, MGC57564, PKC?","Spinocerebellar Ataxia 14"]
[null,"PRRT2","ICCA, DYT10","FLJ25513, DKFZP547J199, IFITMD1, FICCA, DSPB3, PKC, EKD1","Benign Familial Infantile Epilepsy And Infantile Convulsions With Choreoathetosis Syndrome"]
[null,"PUM1","","PUMH1, KIAA0099","Spinocerebellar Ataxia 47"]
[null,"RNF216","","TRIAD3, UBCE7IP1, ZIN","Gordon Holmes Syndrome"]
[null,"RORA","","RZRA, ROR1, ROR2, ROR3, NR1F1","Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia"]
[null,"RPGRIP1L","","KIAA1005, CORS3, JBTS7, MKS5, NPHP8, FTM, PPP1R134","Meckel Syndrome Type 5"]
[null,"RUBCN","KIAA0226","RUBICON, RUNDATAXIN","Syndromic Mr With Ataxia Dysarthria And Epilepsy"]
[null,"SACS","","ARSACS, KIAA0730, DKFZP686B15167, DNAJC29, SPAX6, PPP1R138","Spastic Ataxia Charlevoix-Saguenay Type"]
[null,"SAMD9L","C7ORF6","KIAA2005, FLJ39885","Ataxia-Pancytopenia Syndrome"]
[null,"SCYL1","NTKL","HT019, P105, GKLP, NKTL, TAPK, TRAP, TEIF, MGC78454","Episodes Of Liver Failure Peripheral Neuropathy Cerebellar Atrophy And Ataxia"]
[null,"SERAC1","","FLJ14917","3-Methylglutaconic Aciduria With Deafness Encephalopathy And Leigh-Like Syndrome"]
[null,"SETX","ALS4, SCAR1","KIAA0625, AOA2, SEN1","Spinocerebellar Ataxia Autosomal Recessive With Axonal Neuropathy 2"]
[null,"SH3TC2","","KIAA1985, CMT4C","Charcot-Marie-Tooth Disease Type 4C"]
[null,"SIL1","MSS","BAP, ULG5","Marinesco-Sjoegren Syndrome"]
[null,"SLC17A5","SIASD","AST, SD, ISSD, NSD, SIALIN, SLD","Salla Disease"]
[null,"SLC1A3","","EAAT1, GLAST, EA6","Episodic Ataxia Type 6"]
[null,"SLC20A2","MLVAR, GLVR2","PIT-2, GLVR-2, RAM-1","Basal Ganglia Calcification Idiopathic 1"]
[null,"SLC25A46","","","Neuropathy Hereditary Motor And Sensory Type Vib With Optic Atrophy"]
[null,"SLC2A1","GLUT1, GLUT, HTLVR, CSE","DYT18, DYT9","Glucose Transporter Type 1 Deficiency Syndrome"]
[null,"SLC52A2","GPR172A","FLJ11856, PAR1, GPCR41, D15ERTD747E, RFVT2, HRFT3","Brown-Vialetto-Van Laere Syndrome 2"]
[null,"SLC9A1","APNH, NHE1","PPP1R143","Lichtenstein-Knorr Syndrome"]
[null,"SLC9A6","","NHE6, KIAA0267","Mental Retardation Syndromic X-Linked Christianson Type"]
[null,"SNX14","","RGS-PX2","Id Macrocephaly And Cerebellar Hypoplasia"]
[null,"SPART","SPG20","KIAA0610, TAHCCP1","Spastic Paraplegia 20 Autosomal Recessive"]
[null,"SPG11","KIAA1840, ALS5","FLJ21439","Spastic Paraplegia-11"]
[null,"SPG7","CMAR","CAR, SPG5C","Spastic Paraplegia 7 Autosomal Recessive"]
[null,"SPTBN2","SCA5","","Infantile Ataxia With Oculomotor And Pyramidal Signs"]
[null,"SQSTM1","PDB3, OSIL","P62, P60, P62B, A170","Myopathy Distal With Rimmed Vacuoles"]
[null,"STUB1","","UBOX1, CHIP, SDCCAG7, HSPABP2, NY-CO-7","Spinocerebellar Ataxia Autosomal Recessive 16"]
[null,"STXBP1","","HUNC18, MUNC18-1, UNC18, RBSEC1, NSEC1","Epileptic Encephalopathy Early Infantile Type 4"]
[null,"SUOX","","","Sulfite Oxidase Deficiency Isolated"]
[null,"SYNE1","C6ORF98","SYNE-1B, KIAA0796, 8B, NESPRIN-1, ENAPTIN, MYNE1, CPG2, DJ45H2.2, SCAR8, ARCA1, NESP1","Spinocerebellar Ataxia Autosomal Recessive 8"]
[null,"SYT14","","SYTXIV, FLJ34198","Spinocerebellar Ataxia Autosomal Recessive 11"]
[null,"TCTN1","","FLJ21127, TECT1, JBTS13","Joubert Syndrome And Related Disorders"]
[null,"TCTN2","C12ORF38","FLJ12975, TECT2, MKS8, JBTS24","Joubert Syndrome And Related Disorders"]
[null,"TCTN3","C10ORF61","DKFZP564D116, TECT3, JBTS18","Mohr-Majewski Syndrome"]
[null,"TDP1","","FLJ11090, SCAN1","Spinocerebellar Ataxia Autosomal Recessive With Axonal Neuropathy 1"]
[null,"TDP2","TTRAP","","Spinocerebellar Ataxia Autosomal Recessive 23"]
[null,"TGM6","TGM3L","DJ734P14.3, TGY, SCA35","Spinocerebellar Ataxia 35"]
[null,"TMEM138","","HSPC196, JBTS16","Joubert Syndrome 16"]
[null,"TMEM216","CORS2, MKS2","MGC13379, HSPC244, JBTS2","Joubert Syndrome 2"]
[null,"TMEM231","","FLJ22167, ALYE870, PRO1886, JBTS20, MKS11","Meckel Syndrome Type 11"]
[null,"TMEM237","ALS2CR4","JBTS14","Joubert Syndrome 14"]
[null,"TMEM240","C1ORF70, SCA21","","Spinocerebellar Ataxia 21"]
[null,"TMEM67","MKS3","MGC26979, JBTS6, NPHP11","Nephronophthisis Type 11"]
[null,"TPP1","CLN2, SCAR7","LPIC, TPP-1","Neuronal Ceroid Lipofuscinosis Type 2"]
[null,"TRAPPC11","C4ORF41","FLJ12716, GRY, FOIGR","Muscular Dystrophy Limb-Girdle Type 2S"]
[null,"TRIM32","LGMD2H","HT2A, TATIP, BBS11","Bardet-Biedl Syndrome Type 11"]
[null,"TTBK2","SCA11","KIAA0847","Spinocerebellar Ataxia 11"]
[null,"TTC19","","FLJ20343, MGC19520","Mitochondrial Complex Iii Deficiency"]
[null,"TTC8","","BBS8, RP51","Bardet-Biedl Syndrome Type 8"]
[null,"TTPA","AVED","","Ataxia With Vitamin E Deficiency"]
[null,"TUBB4A","TUBB4, DYT4","BETA-5","Hypomyelination With Atrophy Of The Basal Ganglia And Cerebellum"]
[null,"TWNK","IOSCA, C10ORF2","PEO, PEO1, TWINKLE, FLJ21832, TWINL","Mitochondrial Dna Depletion Syndrome 7 Hepatocerebral Type"]
[null,"UBA5","UBE1DC1","FLJ23251","Severe Infantile-Onset Encephalopathy"]
[null,"UBTF","","UBF, NOR-90, UBF1, UBF2","Childhood-Onset Neurodegeneration"]
[null,"UCHL1","PARK5","PGP9.5, UCH-L1","Early-Onset Progressive Neurodegeneration-Blindness-Ataxia-Spasticity Syndrome"]
[null,"VAMP1","SYB1","VAMP-1","Myasthenic Syndrome Congenital 25 Presynaptic"]
[null,"VLDLR","","CARMQ1, CHRMQ1, VLDLRCH","Cerebellar Ataxia Mental Retardation And Dysequilibrium Syndrome Type 1"]
[null,"VPS13D","","FLJ10619, KIAA0453","Spinocerebellar Ataxia Autosomal Recessive 4"]
[null,"VWA3B","","DKFZP686F2227, MGC26733","Spinocerebellar Ataxia Autosomal Recessive 22"]
[null,"WDPCP","C2ORF86","HFRTZ, FRITZ, BBS15, CPLANE5","Bardet-Biedl Syndrome Type 15"]
[null,"WDR81","","FLJ33817, PPP1R166, CAMRQ2, SORF-2","Cerebellar Ataxia Mental Retardation And Dysequilibrium Syndrome 2"]
[null,"WFS1","DFNA6, DFNA14, DFNA38","DIDMOAD, WFS","Wolfram-Like Syndrome Autosomal Dominant"]
[null,"WWOX","","FOR, WOX1, SDR41C1","Epileptic Encephalopathy Early Infantile 28"]
[null,"XRCC1","RCC","","Spinocerebellar Ataxia Autosomal Recessive 26"]
[null,"ZFYVE26","SPG15","KIAA0321","Spastic Paraplegia Autosomal Recessive Type 15"]
[null,"ZNF423","","KIAA0760, OAZ, HOAZ, EBFAZ, ZFP104, NPHP14, JBTS19","Joubert Syndrome With Oculorenal Defect"]

{"sheet":"CMT Panel","index":4,"n_rows":118,"n_cols":5,"rows_kept":118,"cut":false,"hidden":true,"merged":[[0,1,0,4]]}
[null,"Charcot-Marie-Tooth Panel"]
[null,"Gene","Previous Symbols","Alias Symbols","Disease Association"]
[null,"AARS1","AARS","CMT2N, ALARS","Early-Onset Epileptic Encephalopathy With Persistent Myelination Defect."]
[null,"AGTPBP1","","KIAA1035, NNA1, CCP1","Neurodegeneration Childhood-Onset With Cerebellar Atrophy"]
[null,"AIFM1","PDCD8, NAMSD, AUNX1","AIF, CMTX4, DFNX5","Combined Oxidative Phosphorylation Deficiency 6"]
[null,"AMACR","","RACE, P504S","Bile Acid Synthesis Defect Congenital 4"]
[null,"ARHGEF10","","KIAA0294, GEF10","Slowed Nerve Conduction Velocity Autosomal Dominant"]
[null,"ATAD3A","","FLJ10709","Atad3A Disorder -  Global Developmental Delay Hypotonia Optic Atrophy Axonal Neuropathy And Hypertrophic Cardiomyopathy"]
[null,"ATL1","SPG3, SPG3A","FSP1, AD-FSP","Spastic Paraplegia 3 Autosomal Dominant"]
[null,"ATL3","","DKFZP564J0863","Neuropathy Hereditary Sensory Type If"]
[null,"ATP1A1","","","Renal Hypomagnesemia Refractory Seizures And Intellectual Disability"]
[null,"ATP7A","MNK","","Spinal Muscular Atrophy Distal X-Linked 3"]
[null,"BAG3","","","Myopathy Myofibrillar 6"]
[null,"BICD2","","KIAA0699","Proximal Spinal Muscular Atrophy With Autosomal-Dominant Inheritance"]
[null,"BSCL2","GNG3LG, SPG17","SEIPIN","Spastic Paraplegia 17 Autosomal Dominant"]
[null,"CCT5","","KIAA0098","Neuropathy Hereditary Sensory With Spastic Paraplegia Autosomal Recessive"]
[null,"CHCHD10","C22ORF16","N27C7-4, MIX17A","Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2"]
[null,"COA7","C1ORF163, SELRC1","FLJ12439, RESA1","Spinocerebellar Ataxia Autosomal Recessive With Axonal Neuropathy 3"]
[null,"COX10","","","Leigh Syndrome"]
[null,"COX6A1","COX6A","","Charcot-Marie-Tooth Disease Recessive Intermediate D"]
[null,"CTDP1","","FCP1","Congenital Cataracts Facial Dysmorphism And Neuropathy Syndrome"]
[null,"CYP27A1","CYP27","CTX, CP27","Cerebrotendinous Xanthomatosis"]
[null,"DCAF8","WDR42A","H326, FLJ35857","Giant Axonal Neuropathy 2 Autosomal Dominant"]
[null,"DCTN1","","","Perry Syndrome"]
[null,"DHTKD1","","KIAA1630, MGC3090, DKFZP762M115, CMT2Q","2-Aminoadipic And 2-Oxoadipic Aciduria"]
[null,"DNAJB2","HSJ1","HSPF3, CMT2T","Spinal Muscular Atrophy Distal Autosomal Recessive 5"]
[null,"DNM2","","DYNII, DYN2, CMTDIB, CMTDI1, DI-CMTB, CMT2M","Lethal Congenital Contracture Syndrome 5"]
[null,"DNMT1","DNMT","MCMT, CXXC9","Neuropathy Hereditary Sensory Type Ie"]
[null,"DST","BPAG1","BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2","Epidermolysis Bullosa Simplex Autosomal Recessive 2"]
[null,"DYNC1H1","DNECL, DNCL, DNCH1","DNCHC1, HL-3, P22, DHC1, CMT2O","Spinal Muscular Atrophy Lower Extremity-Predominant Ad"]
[null,"EGR2","KROX20","","Neuropathy Congenital Hypomyelinating 1"]
[null,"ELP1","DYS, IKBKAP","IKAP, TOT1, IKI3","Neuropathy Hereditary Sensory And Autonomic Type Iii"]
[null,"FBLN5","","EVEC, UP50, DANCE, ARMD3","Hereditary Sensorimotor Neuropathy With Hyperelastic Skin"]
[null,"FBXO38","","MOKA, SP329, FLJ13962, FBX38","Neuronopathy Distal Hereditary Motor Type Iid"]
[null,"FGD4","","FRABP, FRABIN, ZFYVE6, CMT4H","Charcot-Marie-Tooth Disease Type 4H"]
[null,"FIG4","KIAA0274","SAC3, HSAC3, DJ249I4.1, ALS11, CMT4J","Cleidocranial Dysplasia With Micrognathia Absent Thumbs And Distal Aphalangia Yunis-Varon Syndrome"]
[null,"FXN","FRDA","FA, FARR, X25, CYAY","Friedreich Ataxia"]
[null,"GAN","","GAN1, KLHL16, GIG","Giant Axonal Neuropathy 1"]
[null,"GARS1","CMT2D, GARS","GLYRS, DSMAV, SMAD1","Spinal Muscular Atrophy Infantile James Type"]
[null,"GDAP1","CMT4A","CMT4, CMT2K","Charcot-Marie-Tooth Disease Type 4A"]
[null,"GJB1","CMTX1, CMTX","CX32","Charcot-Marie-Tooth Disease X-Linked Dominant 1"]
[null,"GNB4","","","Charcot-Marie-Tooth Disease Dominant Intermediate F"]
[null,"GNE","IBM2","UAE1","Nonaka Myopathy"]
[null,"GSN","","DKFZP313L0718","Amyloidosis Finnish Type"]
[null,"HADHB","","MTPB","Mitochondrial Trifunctional Protein Deficiency"]
[null,"HARS1","USH3B, HARS","HISRS","Usher Syndrome"]
[null,"HINT1","PRKCNH1, HINT","PKCI-1","Neuromyotonia And Axonal Neuropathy Autosomal Recessive"]
[null,"HK1","","","Hk1-Related Developmental Disorder Monoallelic"]
[null,"HSPB1","","HSP27, HSP28, HS.76067, HSP25, CMT2F","Charcot-Marie-Tooth Disease Axonal Type 2F"]
[null,"HSPB8","","H11, E2IG1, HSP22, CMT2L","Charcot-Marie-Tooth Disease Axonal Type 2L"]
[null,"IGHMBP2","","ZFAND7, SMUBP2, CATF1, SMARD1, HCSA, HMN6, CMT2S","Spinal Muscular Atrophy With Respiratory Distress 1"]
[null,"INF2","C14ORF151, C14ORF173","MGC13251","Focal Segmental Glomerulosclerosis 5"]
[null,"KARS1","DFNB89, KARS","KARS2","Charcot-Marie-Tooth Disease Recessive Intermediate B"]
[null,"KIF1A","ATSV, C2ORF20, SPG30","UNC104","Nescav Syndrome"]
[null,"KIF1B","CMT2A, CMT2","KIAA0591, KLP, HMSNII","Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A1"]
[null,"KIF5A","SPG10","D12S1889, NKHC, MY050","Spastic Paraplegia 10 Autosomal Dominant"]
[null,"LDB3","CMD1C","PDLIM6, KIAA0613, ZASP","Myopathy Myofibrillar Type 4"]
[null,"LITAF","","PIG7, SIMPLE, FLJ38636, TP53I7","Charcot-Marie-Tooth Disease Demyelinating Type 1C"]
[null,"LMNA","LMN1, CMD1A, LGMD1B, PRO1, LMNL1","HGPS, MADA","Emery-Dreifuss Muscular Dystrophy Type 2"]
[null,"LRSAM1","","FLJ31641, CMT2P, RIFLE, TAL","Charcot-Marie-Tooth Disease Axonal Type 2P"]
[null,"MARS1","MARS","METRS, SPG70, CMT2U","Charcot-Marie-Tooth Disease Axonal Type 2U"]
[null,"MCM3AP","","MAP80, KIAA0572, GANP, SAC3","Peripheral Neuropathy Autosomal Recessive With Or Without Impaired Intellectual Development"]
[null,"MED25","","ARC92, ACID1, TCBAP0758, DKFZP434K0512","Basel-Vanagaite-Smirin-Yosef Syndrome"]
[null,"MFN2","","CPRP1, KIAA0214, MARF, CMT2A2","Mfn2-Related Developmental Disorder"]
[null,"MME","","CALLA, CD10, NEP","Spinocerebellar Ataxia 43"]
[null,"MORC2","ZCWCC1","ZCW3, KIAA0852, AC004542.C22.1","Morc2 - Axonal Neuropathy And Neurodevelopmental Disorder"]
[null,"MPV17","","SYM1","Mitochondrial Dna Depletion Syndrome 6"]
[null,"MPZ","CMT1, CMT1B","HMSNIB, CMT2I, CMT2J, P0","Neuropathy Congenital Hypomyelinating 2"]
[null,"MTMR2","CMT4B","KIAA1073","Charcot-Marie-Tooth Disease Type 4B1"]
[null,"MTRFR","C12ORF65","FLJ38663, SPG55, COXPD7","Combined Oxidative Phosphorylation Deficiency 7"]
[null,"MYOT","TTID, LGMD1A, LGMD1","","Myopathy Myofibrillar 3"]
[null,"NDRG1","CAP43","DRG1, RTP, TDD5, NDR1","Charcot-Marie-Tooth Disease Type 4D"]
[null,"NEFH","","NF-H, NFH","Amyotrophic Lateral Sclerosis 1"]
[null,"NEFL","","NFL, CMT1F, CMT2E, NF68, PPP1R110","Charcot-Marie-Tooth Disease Demyelinating Type 1F"]
[null,"NGF","NGFB","","Neuropathy Hereditary Sensory And Autonomic Type V"]
[null,"NTRK1","","TRK, TRKA, MTC","Congenital Insensitivity To Pain With Anhidrosis"]
[null,"PDK3","","","Charcot-Marie-Tooth Disease X-Linked Dominant 6"]
[null,"PLEKHG5","","KIAA0720, SYX, GEF720, TECH","Spinal Muscular Atrophy Distal Autosomal Recessive 4"]
[null,"PMP2","","MP2, FABP8, M-FABP","Charcot-Marie-Tooth Disease Demyelinating Type 1G"]
[null,"PMP22","CMT1A","HNPP, GAS3, SP110, HMSNIA","Roussy-Levy Hereditary Areflexic Dystasia"]
[null,"PNKP","","PNK","Ataxia-Oculomotor Apraxia 4"]
[null,"POLG","","POLG1, POLGA","Mitochondrial Dna Depletion Syndrome 4A"]
[null,"POLG2","","MTPOLB, HP55","Progressive External Ophthalmoplegia With Mitochondrial Dna Deletionsautosomal Dominant 4"]
[null,"PRDM12","","PFM9","Hereditary Sensory And Autonomic Neuropathy Type Viii"]
[null,"PRPS1","DFN2","CMTX5, DFNX1","Optic Atrophy Hearing Loss And Peripheral Neuropathy Autosomal Recessive"]
[null,"PRX","","KIAA1620","Hypertrophic Neuropathy Of Dejerine-Sottas"]
[null,"RAB7A","RAB7, CMT2B","","Charcot-Marie-Tooth Disease Axonal Type 2B"]
[null,"REEP1","C2ORF23","FLJ13110, SPG31, YIP2A","Neuronopathy Distal Hereditary Motor Type Vb"]
[null,"RETREG1","FAM134B","FLJ20152, JK1","Neuropathy Hereditary Sensory And Autonomic Type Iib"]
[null,"SACS","","ARSACS, KIAA0730, DKFZP686B15167, DNAJC29, SPAX6, PPP1R138","Spastic Ataxia Charlevoix-Saguenay Type"]
[null,"SBF1","","MTMR5, DENND7A","Charcot-Marie-Tooth Disease Type 4B3"]
[null,"SBF2","CMT4B2","KIAA1766, MTMR13, DENND7B","Charcot-Marie-Tooth Disease Type 4B2"]
[null,"SCN11A","SCN12A","NAV1.9, NAN, SNS-2","Episodic Pain Syndrome Familial"]
[null,"SCN9A","","NAV1.7, PN1, NE-NA, NENA, ETHA","Generalized Epilepsy With Febrile Seizures Plus Type 7"]
[null,"SCYL1","NTKL","HT019, P105, GKLP, NKTL, TAPK, TRAP, TEIF, MGC78454","Episodes Of Liver Failure Peripheral Neuropathy Cerebellar Atrophy And Ataxia"]
[null,"SEPTIN9","MSF, SEPT9","MSF1, KIAA0991, PNUTL4, AF17Q25, SEPTD1","Amyotrophy Hereditary Neuralgic"]
[null,"SETX","ALS4, SCAR1","KIAA0625, AOA2, SEN1","Spinocerebellar Ataxia Autosomal Recessive With Axonal Neuropathy 2"]
[null,"SH3TC2","","KIAA1985, CMT4C","Charcot-Marie-Tooth Disease Type 4C"]
[null,"SLC12A6","KCC3, ACCPN","","Agenesis Of The Corpus Callosum With Peripheral Neuropathy"]
[null,"SLC25A46","","","Neuropathy Hereditary Motor And Sensory Type Vib With Optic Atrophy"]
[null,"SLC52A2","GPR172A","FLJ11856, PAR1, GPCR41, D15ERTD747E, RFVT2, HRFT3","Brown-Vialetto-Van Laere Syndrome 2"]
[null,"SLC52A3","C20ORF54","BA371L19.1, HRFT2, RFVT3","Brown-Vialetto-Van Laere Syndrome"]
[null,"SMAD3","MADH3","JV15-2, HST17436","Smad3-Related Loeys-Dietz Syndrome"]
[null,"SPG11","KIAA1840, ALS5","FLJ21439","Spastic Paraplegia-11"]
[null,"SPTBN4","","SPTBN3, KIAA1642","Neurodevelopmental Disorder With Hypotonia Neuropathy And Deafness"]
[null,"SPTLC1","HSN1","LCB1, SPTI, HSAN1, HLCB1","Neuropathy Hereditary Sensory And Autonomic Type Ia"]
[null,"SPTLC2","","KIAA0526, LCB2, LCB2A, HLCB2A","Neuropathy Hereditary Sensory And Autonomic Type Ic"]
[null,"SURF1","","SHY1","Leigh Syndrome"]
[null,"TFG","","TF6, FLJ36137, SPG57","Neuropathy Hereditary Motor And Sensory Okinawa Type"]
[null,"TRIM2","","KIAA0517, RNF86, CMT2R","Charcot-Marie-Tooth Disease Axonal Type 2R"]
[null,"TRPV4","","OTRPC4, TRP12, VROAC, VRL-2, VR-OAC, CMT2C","Spondylometaphyseal Dysplasia Kozlowski Type"]
[null,"TTR","PALB, CTS1","HST2651, CTS","Amyloidosis Hereditary Transthyretin-Related"]
[null,"TYMP","MNGIE, ECGF1","","Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)"]
[null,"UBA1","A1S9T, GXP1, UBE1","UBE1X, POC20, CFAP124","Vexas Syndrome"]
[null,"VCP","","IBMPFD, P97, CDC48, TERA","Vcp-Related Developmental Disorder Monoallelic"]
[null,"WNK1","PRKWNK1, HSN2","HSAN2, PPP1R167","Neuropathy Hereditary Sensory And Autonomic Type Iia"]
[null,"YARS1","YARS","YTS, YRS, TYRRS","Charcot-Marie-Tooth Disease Dominant Intermediate C"]
[null,"ZFYVE26","SPG15","KIAA0321","Spastic Paraplegia Autosomal Recessive Type 15"]

{"sheet":"Complex Immune Dysregulation","index":5,"n_rows":643,"n_cols":5,"rows_kept":643,"cut":false,"hidden":true,"merged":[[0,1,0,4]]}
[null,"Complex Immune Dysregulation Panel"]
[null,"Gene","Previous Symbols","Alias Symbols","Disease Association"]
[null,"ABCB7","ABC7","EST140535, ATM1P, ASAT","Anemia Sideroblastic With Ataxia"]
[null,"ABCG5","","STSL","Sitosterolemia 2"]
[null,"ABCG8","","GBD4","Sitosterolemia"]
[null,"ACD","","PTOP, PIP1, TPP1, TINT1","Dyskeratosis Congenita Autosomal Dominant 6"]
[null,"ACP5","","TRAP, HPAP","Spondyloenchondrodysplasia With Immune Dysregulation"]
[null,"ACTB","","","Baraitser-Winter Syndrome 1"]
[null,"ACTG1","ACTG, DFNA20, DFNA26","","Baraitser-Winter Syndrome"]
[null,"ACTN1","","","Bleeding Disorder Platelet-Type 15"]
[null,"ADA","","ADA1","Adenosine Deaminase Deficiency"]
[null,"ADA2","IDGFL, CECR1","ADGF","Vasculitis Autoinflammation Immunodeficiency And Hematologicdefects Syndrome"]
[null,"ADAM17","TACE","CSVP, CD156B","Inflammatory Skin And Bowel Disease Neonatal 1"]
[null,"ADAMTS13","C9ORF8","VWFCP, TTP, VWF-CP, FLJ42993, MGC118899, MGC118900, DKFZP434C2322","Thrombotic Thrombocytopenic Purpura Hereditary"]
[null,"ADAMTS3","","KIAA0366, ADAMTS-4","Hennekam Lymphangiectasia-Lymphedema Syndrome 3"]
[null,"ADAR","IFI4, G1P1","ADAR1","Dyschromatosis Symmetrica Hereditaria 1"]
[null,"ADIPOQ","ACDC","ACRP30, APM1, GBP28, ADIPONECTIN","Adiponectin Serum Level Of Quantitative Trait Locus 1"]
[null,"ADIPOR1","","PAQR1, ACDCR1",""]
[null,"ADIPOR2","","PAQR2, ACDCR2",""]
[null,"AICDA","","HIGM2, CDA2, ARP2, AID","Immunodeficiency With Hyper-Igm Type 2"]
[null,"AIRE","APECED","PGA1, APS1","Autoimmune Polyendocrinopathy Syndrome Type 1"]
[null,"AK2","","","Reticular Dysgenesis"]
[null,"ALAS2","ASB","","Anemia Sideroblastic 1"]
[null,"ALPI","","IAP",""]
[null,"ANKRD11","","LZ16, T13","Kbg Syndrome"]
[null,"ANKRD26","THC2","KIAA1074","Thrombocytopenia 2"]
[null,"AP1S3","","SIGMA1C","Psoriasis 15 Pustular Susceptibility To"]
[null,"AP3B1","","ADTB3A, HPS2","Hermansky-Pudlak Syndrome 2"]
[null,"AP3D1","","ADTD","Hermansky-Pudlak Syndrome 10"]
[null,"APOL1","APOL","","Genetic Steroid-Resistant Nephrotic Syndrome"]
[null,"ARHGEF1","","P115-RHOGEF, SUB1.5, LBCL2","Immunodeficiency 62"]
[null,"ARPC1B","","ARC41, P40-ARC, P41-ARC","Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia"]
[null,"ATM","ATA, ATDC, ATC, ATD","TEL1, TELO1","Ataxia-Telangiectasia"]
[null,"ATP6AP1","ATP6S1, ATP6IP1","ORF, XAP-3, VATPS1, 16A, AC45, XAP3, CF2","Immunodeficiency 47"]
[null,"ATR","","FRP1, SCKL, SCKL1, MEC1","Seckel Syndrome Type 1"]
[null,"ATRX","RAD54, JMS, MRX52","XH2, XNP","Alpha-Thalassemia Mental Retardation Syndrome X-Linked Non-Deletion Type"]
[null,"B2M","","","Immunodeficiency 43"]
[null,"BACH2","","BTBD25","Immunodeficiency 60"]
[null,"BCL10","","CARMEN, CIPER, ME10, C-E10, CLAP","Immunodeficiency 37"]
[null,"BCL11B","ZNF856B","CTIP-2, CTIP2, HRIT1-ALPHA, SMARCM2","Bcl11B-Related Developmental Disorder Monoallelic"]
[null,"BCO1","BCDO, BCDO1, BCMO1","FLJ10730, BCMO","Hypercarotenemia And Vitamin A Deficiency Autosomal Dominant"]
[null,"BLM","","BS, RECQL3, RECQ2","Bloom Syndrome"]
[null,"BLNK","","SLP65, LY57, SLP-65, BLNK-S, BASH, BCA","Agammaglobulinemia 4 Autosomal Recessive"]
[null,"BLOC1S3","","BLOS3, HPS8","Hermansky-Pudlak Syndrome 8"]
[null,"BLOC1S6","PA, PLDN","HPS9","Hermansky-Pudlak Syndrome 9"]
[null,"BRAF","","BRAF1","Cardiofaciocutaneous Syndrome"]
[null,"BRCA1","","RNF53, BRCC1, PPP1R53, FANCS","Fanconi Anemia Complementation Group S"]
[null,"BRCA2","FANCD1, FACD, FANCD","FAD, FAD1, BRCC2, XRCC11","Fanconi Anemia Complementation Group D Type 1"]
[null,"BRIP1","","OF, BACH1, FANCJ","Fanconi Anemia Complementation Group J"]
[null,"BTK","AGMX1, IMD1","ATK, XLA, PSCTK1","Agammaglobulinemia X-Linked"]
[null,"C1QA","","","C1Q Deficiency"]
[null,"C1QB","","","C1Q Deficiency"]
[null,"C1QBP","HABP1","GC1Q-R, GC1QR, P32, SF2P32","Severe Neonatal- Childhood- Or Later-Onset Cardiomyopathy Associated With Combined Respiratory-Chain Deficiencies"]
[null,"C1QC","C1QG","","C1Q Deficiency"]
[null,"C1R","","","Ehlers-Danlos Syndrome Periodontal Type 1"]
[null,"C1S","","","Complement Component C1S Deficiency"]
[null,"C2","","","Complement Component 2 Deficiency"]
[null,"C3","","CPAMD1, ARMD9, C3A, C3B","Hemolytic Uremic Syndrome Atypical Susceptibility To 5"]
[null,"C3AR1","","C3AR, AZ3B",""]
[null,"C4BPA","C4BP","",""]
[null,"C4BPB","C4BP","",""]
[null,"C5","","CPAMD4, C5A, C5B","Complement Component 5 Deficiency"]
[null,"C5AR1","C5R1","C5A, C5AR, CD88",""]
[null,"C5AR2","GPR77","C5L2",""]
[null,"C6","","","Complement Component 6 Deficiency"]
[null,"C7","","","Complement Component 7 Deficiency"]
[null,"C8A","","","Complement Component 8 Deficiency Type I"]
[null,"C8B","","","Complement Component 8 Deficiency Type Ii"]
[null,"C8G","","","Immunodeficiency Due To A Late Component Of Complement Deficiency"]
[null,"C9","","","Complement Component 9 Deficiency"]
[null,"CARD11","","CARMA1, BIMP3","B-Cell Expansion With Nfkb And T-Cell Anergy"]
[null,"CARD14","PSORS2","CARMA2, BIMP2","Pityriasis Rubra Pilaris"]
[null,"CARD9","","","Candidiasis Familial 2"]
[null,"CARMIL2","RLTPR","LRRC16C","Immunodeficiency 58"]
[null,"CASP10","","MCH4, FLICE-2","Autoimmune Lymphoproliferative Syndrome Type Iia"]
[null,"CASP8","","MCH5, MACH, FLICE, CASP-8","Autoimmune Lymphoproliferative Syndrome With Recurrent Viral Infections"]
[null,"CAVIN1","PTRF","CAVIN-1, CGL4","Lipodystrophy Congenital Generalized Type 4"]
[null,"CBL","CBL2","RNF55, C-CBL","Noonan Syndrome-Like Disorder With Or Without Juvenile Meylomonocytic Leukemia"]
[null,"CCBE1","","FLJ30681, KIAA1983","Hennekam Lymphangiectasia-Lymphedema Syndrome"]
[null,"CCDC103","","FLJ13094, FLJ34211, PR46B, CILD17","Primary Ciliary Dyskinesia"]
[null,"CCDC39","","DKFZP434A128, CILD14, FAP59, CFAP59","Ciliary Dyskinesia Primary 14"]
[null,"CCDC40","","FLJ20753, KIAA1640, FLJ32021, CILD15, FAP172, CFAP172","Ciliary Dyskinesia Primary 15"]
[null,"CCDC65","","NYD-SP28, FLJ35732, FAP250, CFAP250, CILD27, DRC2","Primary Ciliary Dyskinesia"]
[null,"CCNK","","CPR4","Syndromic Neurodevelopmental Disorder With Distinctive Facial Dysmorphism"]
[null,"CCNO","CCNU","UDG2, FLJ22422, UNG2","Ciliary Dyskinesia Primary 29"]
[null,"CD19","","","Immunodeficiency Common Variable 2"]
[null,"CD247","CD3Z","CD3H, CD3Q","Immunodeficiency 25"]
[null,"CD27","TNFRSF7","S152, TP55","Lymphoproliferative Syndrome 2"]
[null,"CD3D","T3D","","Immunodeficiency 19"]
[null,"CD3E","","","Immunodeficiency 18"]
[null,"CD3G","","","Immunodeficiency 17"]
[null,"CD40","TNFRSF5","P50, BP50","Immunodeficiency With Hyper-Igm Type 3"]
[null,"CD40LG","HIGM1, IMD3, TNFSF5","CD40L, TRAP, GP39, HCD40L, CD154","Immunodeficiency With Hyper-Igm Type 1"]
[null,"CD46","MIC10, MCP","TRA2.10, MGC26544, TLX","Hemolytic Uremic Syndrome Atypical Susceptibility To 2"]
[null,"CD55","DAF","CR, TC, CROM","Complement Hyperactivation Angiopathic Thrombosis And Protein-Losing Enteropathy"]
[null,"CD59","MIC11, MIN1, MSK21, MIN2, MIN3","16.3A5, EJ16, EJ30, EL32, G344, P18-20","Hemolytic Anemia Cd59-Mediated With Or Without Immune-Mediated Polyneuropathy"]
[null,"CD70","CD27LG, TNFSF7","CD27L","Lymphoproliferative Syndrome 3"]
[null,"CD79A","IGA","MB-1","Agammaglobulinemia 3 Autosomal Recessive"]
[null,"CD79B","IGB","B29","Agammaglobulinemia 6 Autosomal Recessive"]
[null,"CD81","TAPA1","TAPA-1, TSPAN28","Immunodeficiency Common Variable 6"]
[null,"CD8A","CD8","","Cd8 Deficiency Familial"]
[null,"CD93","MXRA4, C1QR1","C1QRP, C1QR(P), DJ737E23.1, CDW93, ECSM3",""]
[null,"CDAN1","","CDA-I, CDAI","Anemia Congenital Dyserythropoietic Type Ia"]
[null,"CDC42","","G25K, CDC42HS","Cdc42-Related Neurodevelopmental Disorder"]
[null,"CDCA7","","FLJ14736, JPO1","Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3"]
[null,"CDIN1","C15ORF41","HH114, MGC11326, FLJ22851","Anemia Congenital Dyserythropoietic Type Ib"]
[null,"CDK9","CDC2L4","PITALRE, C-2K, TAK",""]
[null,"CDKN2A","CDKN2, MLM","CDK4I, P16, INK4A, MTS1, CMM2, ARF, P19, P14, INK4, P16INK4A, P19ARF, P14ARF","Li-Fraumeni Syndrome"]
[null,"CEBPA","CEBP","C/EBP-ALPHA","Leukemia Acute Myeloid"]
[null,"CEBPE","","CRP1","Specific Granule Deficiency 1"]
[null,"CENPF","","HCP-1","Stromme Syndrome"]
[null,"CFAP298","C21ORF48, C21ORF59","FLJ20467, FBB18, CILD26, KUR","Primary Ciliary Dyskinesia"]
[null,"CFAP300","C11ORF70","MGC13040, FBB5","Primary Ciliary Dyskinesia"]
[null,"CFB","BFD, BF","H2-BF","Hemolytic Uremic Syndrome Atypical Susceptibility To 4"]
[null,"CFD","DF, PFD","ADN","Complement Factor D Deficiency"]
[null,"CFH","HF, HF1, HF2","HUS, FHL1, ARMS1, ARMD4","Hemolytic Uremic Syndrome Atypical Susceptibility To 1"]
[null,"CFHR5","CFHL5","FHR5, FHR-5","Cfhr5 Deficiency"]
[null,"CFI","IF","FI, C3B-INA, KAF","Hemolytic Uremic Syndrome Atypical Susceptibility To 3"]
[null,"CFP","PFC","","Properdin Deficiency X-Linked"]
[null,"CFTR","CF, ABCC7","MRP7, ABC35, TNR-CFTR, DJ760C5.1, CFTR/MRP","Bronchiectasis With Or Without Elevated Sweat Chloride 1"]
[null,"CHD7","CRG","KIAA1416, FLJ20357, FLJ20361","Charge Syndrome"]
[null,"CHEK2","RAD53","CDS1, CHK2, HUCDS1, PP1425, BA444G7","Li-Fraumeni Syndrome 2"]
[null,"CIB1","","SIP2-28, CIB, KIP","Epidermodysplasia Verruciformis Susceptibility To 3"]
[null,"CIITA","MHC2TA","C2TA, NLRA","Rheumatoid Arthritis"]
[null,"CLCN7","","CLC-7, OPTA2, CLC7, CLC-7, PPP1R63","Clcn7-Related Osteopetrosis"]
[null,"CLEC7A","CLECSF12","DECTIN-1, HDECTIN-1, CD369, SCARE2","Candidiasis Familial 4"]
[null,"CLPB","","HSP78, SKD3, FLJ13152, ANKCLB","3-Methylglutaconic Aciduria Type Vii With Cataracts Neurologic Involvement And Neutropenia"]
[null,"CLU","CLI, APOJ","SGP-2, SP-40, TRPM-2, KUB1, CLU1, CLU2",""]
[null,"COG6","","COD2, KIAA1134","Shaheen Syndrome"]
[null,"COLEC11","","MGC3279, CL-K1, CL-11","3Mc Syndrome 2"]
[null,"COPA","","HEP-COP","Autoimmune Interstitial Lung Joint And Kidney Disease"]
[null,"CORO1A","","HCORO1, P57, CORONIN-1","Immunodeficiency 8"]
[null,"CPT2","CPT1","CPTASE","Carnitine Palmitoyltransferase Ii Deficiency Lethal Neonatal"]
[null,"CR2","","CD21, C3DR","Systemic Lupus Erythematosus Susceptibility To 9"]
[null,"CREBBP","RSTS","RTS, CBP, KAT3A","Rubinstein-Taybi Syndrome Type 1"]
[null,"CRP","","PTX1",""]
[null,"CSF2RA","CSF2R","CD116, ALPHAGMR","Surfactant Metabolism Dysfunction Pulmonary 4"]
[null,"CSF2RB","IL3RB","IL5RB, CD131, BETAGMR","Surfactant Metabolism Dysfunction Pulmonary 5"]
[null,"CSF3R","CD114","GCSFR","Neutropenia Severe Congenital 7 Autosomal Recessive"]
[null,"CTC1","C17ORF68","FLJ22170, AAF132","Cerebroretinal Microangiopathy With Calcifications And Cysts"]
[null,"CTLA4","CELIAC3, IDDM12","CD152, CD, GSE, CTLA-4","Celiac Disease Susceptibility To 3"]
[null,"CTNNBL1","C20ORF33","FLJ21108, P14L, P14, NAP, NYD-SP19",""]
[null,"CTPS1","CTPS","GATD5A","Immunodeficiency 24"]
[null,"CTSC","PLS, PALS","DPP1","Papillon-Lefevre Syndrome"]
[null,"CXCR2","IL8RB","CMKAR2, CD182","Autosomal Recessive Severe Congenital Neutropenia Due To Cxcr2 Deficiency"]
[null,"CXCR4","","LESTR, NPY3R, HM89, NPYY3R, D2S201E, FUSIN, HSY3RR, NPYR, CD184","Whim Syndrome"]
[null,"CYBA","","P22-PHOX","Granulomatous Disease Chronic Autosomal Recessive 4"]
[null,"CYBB","CGD","GP91-PHOX, NOX2","Immunodeficiency 34"]
[null,"CYBC1","C17ORF62","MGC4368, FLJ90469, EROS","Granulomatous Disease Chronic Autosomal Recessive 5"]
[null,"CYCS","","HCS, CYC","Thrombocytopenia 4"]
[null,"CYP27A1","CYP27","CTX, CP27","Cerebrotendinous Xanthomatosis"]
[null,"DBR1","","",""]
[null,"DCLRE1B","","SNM1B, FLJ12810, FLJ13998, APOLLO",""]
[null,"DCLRE1C","SCIDA","ARTEMIS, FLJ11360, SNM1C, A-SCID","Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation"]
[null,"DDX11","","CHLR1, KRG2, CHL1, CHLR1, WABS","Warsaw Breakage Syndrome"]
[null,"DDX41","","ABS, MGC8828","Myeloproliferative/Lymphoproliferative Neoplasms Familial (Multiple Types) Susceptibility To"]
[null,"DDX58","","RIG-I, FLJ13599, DKFZP434J1111, RIG-1, RIG1","Singleton-Merten Syndrome"]
[null,"DEF6","","IBP, SLAT, SWAP70L",""]
[null,"DGAT1","DGAT","ARGP1","Congenital Diarrheal Disorders"]
[null,"DGKE","","DAGK6, DGK","Nephrotic Syndrome Type 7"]
[null,"DHFR","","","Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency"]
[null,"DKC1","DKC","XAP101, DYSKERIN, NAP57, NOLA4, CBF5","Dkc1-Related Dyskeratosis Congenita"]
[null,"DNAAF1","LRRC50","FLJ25330, ODA7, CILD13, SWT, DAU1","Ciliary Dyskinesia Primary 13"]
[null,"DNAAF11","LRRC6","TSLRP, LRTP, CILD19, TILB","Primary Ciliary Dyskinesia"]
[null,"DNAAF2","C14ORF104","FLJ10563, KTU, PF13, CILD10","Ciliary Dyskinesia Primary 10"]
[null,"DNAAF3","C19ORF51, CILD2","FLJ40069, FLJ36139, PF22, PCD","Primary Ciliary Dyskineasia"]
[null,"DNAAF4","DYX1C1","EKN1, FLJ37882, CILD25","Primary Ciliary Dysplasia"]
[null,"DNAAF5","HEATR2","FLJ20397, FLJ31671, FLJ39381, FLJ25564, CILD18","Ciliary Dyskinesia Primary 18"]
[null,"DNAAF6","CXORF41, PIH1D3","MGC35261, NYSAR97, TWISTER","X-Linked Primary Ciliary Dyskinesia With Outer And Inner Dynein Arm Defects"]
[null,"DNAH1","","XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11","Primary Ciliary Dyskinesia"]
[null,"DNAH11","","DNAHC11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL","Ciliary Dyskinesia Primary 7"]
[null,"DNAH5","","DNAHC5, HL1, PCD, CILD3, KTGNR","Ciliary Dyskinesia Primary 3"]
[null,"DNAH9","DNAH17L","DNAHC9, KIAA0357, HL20, HL-20, DNAL1, DYH9","Motile Cilia Defects And Situs Inversus"]
[null,"DNAI1","","DIC1, PCD, CILD1","Ciliary Dyskinesia Primary 1"]
[null,"DNAI2","","CILD9, DIC2","Ciliary Dyskinesia Primary 9"]
[null,"DNAJC21","","GS3, DNAJA5, JJJ1","Bone Marrow Failure Syndrome 3"]
[null,"DNAL1","C14ORF168","MGC12435, 1700010H15RIK, CILD16","Ciliary Dyskinesia Primary 16"]
[null,"DNASE1L3","","DNAS1L3, LSD","Systemic Lupus Erythematosus 16"]
[null,"DNASE2","DNL, DNL2","",""]
[null,"DNMT3B","","","Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1"]
[null,"DOCK2","","KIAA0209","Immunodeficiency 40"]
[null,"DOCK8","","FLJ00026, FLJ00152, ZIR8, FLJ00346","Hyperimmunoglobulin E Recurrent Infection Syndrome Autosomal Recessive"]
[null,"DRC1","C2ORF39, CCDC164","MGC16372, FLJ32660, CILD21","Primary Cilary Dyskinesia"]
[null,"DTNBP1","","DYSBINDIN, MY031, HPS7, DBND, BLOC1S8","Hermansky-Pudlak Syndrome 7"]
[null,"EFL1","EFTUD1","FLJ13119, FAM42A, HST19294, RIA1","Shwachman-Diamond Syndrome 2"]
[null,"EIF2AK3","","PEK, PERK","Wolcott-Rallison Syndrome"]
[null,"ELANE","ELA2","NE, HNE, HLE, PMN-E","Cyclic Neutropenia"]
[null,"EP300","","P300, KAT3B","Rubinstein-Taybi Syndrome Type 2"]
[null,"EPCAM","M4S1, MIC18, TACSTD1","LY74, TROP1, GA733-2, EGP34, EGP40, EGP-2, KSA, CD326, EP-CAM, HEA125, KS1/4, MK-1, MH99, MOC31, 323/A3, 17-1A, TACST-1, CO-17A, ESA","Diarrhea 5 With Tufting Enteropathy Congenital"]
[null,"EPG5","KIAA1632","HEPG5","Immunodeficiency With Cleft Lip/Palate Cataract Hypopigmentation And Absent Corpus Callosum"]
[null,"EPO","","EP","Diamond-Blackfan Anemia-Like"]
[null,"ERBIN","ERBB2IP","LAP2",""]
[null,"ERCC2","XPD","MAG, EM9, MGC102762, MGC126218, MGC126219","Cerebro-Oculo-Facio-Skeletal Syndrome Type 2"]
[null,"ERCC3","","XPB, BTF2, RAD25, SSL2","Xeroderma Pigmentosum Complementation Group B"]
[null,"ERCC4","XPF","RAD1, FANCQ","Fanconi Anemia Complementation Group Q"]
[null,"ERCC6L2","C9ORF102","FLJ37706, RAD26L, HEBO","Bone Marrow Failure Syndrome 2"]
[null,"ETV6","","TEL","Leukemia Acute Myeloid"]
[null,"EXTL3","","BOTV, REGR","Neuro Immuno Skeletal Dysplasia Syndrome"]
[null,"FAAP100","C17ORF70","FLJ22175",""]
[null,"FAAP24","C19ORF40","FLJ46828, MGC32020",""]
[null,"FADD","","MORT1, GIG3","Infections Recurrent With Encephalopathy Hepatic Dysfunction And Cardiovascular Malformations"]
[null,"FANCA","FACA, FANCH","FAA, FA-H, FAH","Fanconi Anemia Complementation Group A"]
[null,"FANCB","","FAB, FLJ34064, FAAP95","Fancb-Related Fanconi Anemia"]
[null,"FANCC","FACC","FAC, FA3","Fanconi Anemia Complementation Group C"]
[null,"FANCD2","FACD, FANCD","FAD, FA-D2","Fanconi Anemia Complementation Group D2"]
[null,"FANCE","FACE","FAE","Fanconi Anemia Complementation Group E"]
[null,"FANCF","","FAF","Fanconi Anemia Complementation Group F"]
[null,"FANCG","XRCC9","FAG","Fanconi Anemia Complementation Group G"]
[null,"FANCI","KIAA1794","FLJ10719","Fanconi Anemia"]
[null,"FANCL","PHF9","FLJ10335, FAAP43, POG","Fanconi Anemia"]
[null,"FANCM","KIAA1596","FAAP250","Fancm-Related Fanconi Anemia"]
[null,"FAS","FAS1, APT1, TNFRSF6","CD95, APO-1","Autoimmune Lymphoproliferative Syndrome"]
[null,"FASLG","APT1LG1, TNFSF6","FASL, CD178","Autoimmune Lymphoproliferative Syndrome"]
[null,"FAT4","","CDHF14, FAT-J, CDHR11","Hennekam Lymphangiectasia-Lymphedema Syndrome 2"]
[null,"FCGR3A","FCGR3, FCG3","CD16, CD16A","Immunodeficiency 20"]
[null,"FCHO1","","KIAA0290",""]
[null,"FCN1","","FCNM",""]
[null,"FCN2","","P35, FCNL, EBP-37, FICOLIN-2",""]
[null,"FCN3","","FCNH, HAKA1","Ficolin 3 Deficiency"]
[null,"FERMT1","C20ORF42","FLJ20116, URP1, KIND1, UNC112A","Kindler Syndrome"]
[null,"FERMT3","","URP2, KIND3, MIG2B, MGC10966, UNC112C","Leukocyte Adhesion Deficiency Type Iii"]
[null,"FLG","","","Ichthyosis Vulgaris"]
[null,"FLI1","","SIC-1, EWSR2","Bleeding Disorder Platelet-Type 21"]
[null,"FLNA","FLN1, FLN, OPD2, OPD1","ABP-280","Melnick-Needles Syndrome"]
[null,"FOXN1","WHN, RONU","FKHL20","Alopecia And T-Cell Immunodeficiency"]
[null,"FOXP3","IPEX","JM2, XPID, AIID, PIDX, DIETER, SCURFIN","Ipex Syndrome"]
[null,"FPR1","","FPR, FMLP","Susceptibility To Localized Juvenile Periodontitis"]
[null,"FYB1","FYB","SLAP-130, FYB-120/130, ADAP","Thrombocytopenia 3"]
[null,"G6PC3","","UGRP","Neutropenia Severe Congenital 4 Autosomal Recessive"]
[null,"G6PD","","G6PD1","Anemia Nonspherocytic Hemolytic Due To G6Pd Deficiency"]
[null,"GAS2L2","","GAR17","Impaired Cilia Orientation And Mucociliary Clearance"]
[null,"GAS8","GAS11","DRC4","Primary Ciliary Dyskinesia"]
[null,"GATA1","GF1","ERYF1, NFE1, GATA-1, NF-E1","Thrombocytopenia X-Linked With Or Without Dyserythropoietic Anemia"]
[null,"GATA2","","NFE1B","Emberger Syndrome"]
[null,"GBA","GLUC","GBA1","Gaucher Disease Perinatal Lethal"]
[null,"GFI1","ZNF163","GFI1A, GFI-1","Neutropenia Nonimmune Chronic Idiopathic Of Adults"]
[null,"GFI1B","","ZNF163B","Bleeding Disorder Platelet-Type 17"]
[null,"GINS1","","KIAA0186, PSF1","Immunodeficiency 55"]
[null,"GLRX5","C14ORF87","PR01238, GRX5","Anemia Sideroblastic 3 Pyridoxine-Refractory"]
[null,"GNE","IBM2","UAE1","Nonaka Myopathy"]
[null,"GP1BA","GP1B","CD42B, GPIBALPHA","Bernard-Soulier Syndrome"]
[null,"GP1BB","","CD42C, GPIBBETA","Bernard-Soulier Syndrome"]
[null,"GP9","","CD42A, GPIX","Bernard-Soulier Syndrome"]
[null,"GTF2H5","C6ORF175, TTD","FLJ30544, BA120J8.2, TTD-A, TFB5, TFIIH, TTDA","Trichothiodystrophy Photosensitive"]
[null,"GUCY2C","GUC2C","STAR","Familial Diarrhea Diarrhea 6"]
[null,"HAVCR2","","TIM-3, TIM3, FLJ14428, TIMD3, CD366","T-Cell Lymphoma Subcutaneous Panniculitis-Like"]
[null,"HAX1","","HS1BP1, HCLSBP1, HAX-1","Neutropenia Severe Congenital 3 Autosomal Recessive"]
[null,"HELLS","","PASG, SMARCA6, LSH, NBLA10143","Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4"]
[null,"HMOX1","","BK286B10, HO-1","Heme Oxygenase 1 Deficiency"]
[null,"HNRNPK","HNRPK","CSBP, TUNP","Au-Kline Syndrome"]
[null,"HOXA11","HOX1I, HOX1","","Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia"]
[null,"HPS1","HPS","BLOC3S1","Hermansky-Pudlak Syndrome"]
[null,"HPS3","","SUTAL, BLOC2S1","Hermansky-Pudlak Syndrome 3"]
[null,"HPS4","","KIAA1667, LE, BLOC3S2","Hermansky-Pudlak Syndrome 4"]
[null,"HPS5","","BLOC2S2, AIBP63, RU2","Hermansky-Pudlak Syndrome 5"]
[null,"HPS6","","FLJ22501, BLOC2S3","Hermansky-Pudlak Syndrome 6"]
[null,"HRAS","HRAS1","","Costello Syndrome"]
[null,"HSPA9","HSPA9B","GRP75, PBP74, MOT-2, MTHSP75","Even-Plus Syndrome"]
[null,"HYDIN","","DKFZP434D0513, KIAA1864, PPP1R31, CILD5","Ciliary Dyskinesia Primary 5"]
[null,"HYOU1","","ORP150, HSP12A, GRP170","Immunodeficiency 59 And Hypoglycemia"]
[null,"ICOS","","AILIM, CD278","Immunodeficiency Common Variable 1"]
[null,"ICOSLG","ICOSL","KIAA0653, GL50, B7-H2, B7RP-1, B7H2, B7RP1, ICOS-L, CD275, B7H",""]
[null,"IFIH1","","MDA-5, HLCD, MDA5, IDDM19","Aicardi-Goutieres Syndrome 7"]
[null,"IFNAR1","IFNAR","IFRC",""]
[null,"IFNAR2","IFNABR","","Immunodeficiency 45"]
[null,"IFNGR1","IFNGR","CD119","Immunodeficiency 27B"]
[null,"IFNGR2","IFNGT1","AF-1","Immunodeficiency 28"]
[null,"IGLL1","IGLL","IGVPB, IGL5, 14.1, CD179B","Agammaglobulinemia 2 Autosomal Recessive"]
[null,"IKBKB","","IKK2, NFKBIKB, IKK-BETA, IKKB","Immunodeficiency 15B"]
[null,"IKZF1","ZNFN1A1","HIK-1, LYF-1, HS.54452, IKAROS, PPP1R92","Immunodeficiency Common Variable 13"]
[null,"IL10","","CSIF, TGIF, IL10A, IL-10","Immune Dysregulation-Inflammatory Bowel Disease-Arthritis-Recurrent Infections Syndrome"]
[null,"IL10RA","IL10R","HIL-10R, CDW210A, CD210A, CD210","Inflammatory Bowel Disease 28 Autosomal Recessive"]
[null,"IL10RB","CRFB4, D21S58, D21S66","CRF2-4, CDW210B, IL-10R2","Inflammatory Bowel Disease 25 Autosomal Recessive"]
[null,"IL12B","NKSF2","CLMF, IL-12B, NKSF, CLMF2","Immunodeficiency 29"]
[null,"IL12RB1","IL12RB","CD212","Immunodeficiency 30"]
[null,"IL12RB2","","",""]
[null,"IL17F","","IL-17F, ML-1, ML1","Candidiasis Familial 6"]
[null,"IL17RA","IL17R","HIL-17R, IL-17RA, CDW217, CD217","Immunodeficiency 51"]
[null,"IL17RC","","IL17-RL","Candidiasis Familial 9"]
[null,"IL18BP","","IL18BPA","Hepatitis Fulminant Viral Susceptibility To"]
[null,"IL1RN","","IL1RA, ICIL-1RA, IL1F3, IRAP, IL-1RN, MGC10430","Osteomyelitis Sterile Multifocal With Periostitis And Pustulosis"]
[null,"IL21","","ZA11, IL-21","Immunodeficiency Common Variable 11"]
[null,"IL21R","","CD360","Immunodeficiency 56"]
[null,"IL23R","","IL-23R","Inflammatory Bowel Disease 17"]
[null,"IL2RA","IL2R, IDDM10","CD25","Immunodeficiency 41 With Lymphoproliferation And Autoimmunity"]
[null,"IL2RB","IL15RB","CD122","Immunodeficiency 63 With Lymphoproliferation And Autoimmunity"]
[null,"IL2RG","SCIDX1, IMD4, CIDX","CD132","Combined Immunodeficiency X-Linked"]
[null,"IL36RN","IL1F5","FIL1, FIL1(DELTA), FIL1D, IL1HY1, IL1RP3, IL1L1, IL-1F5, IL36RA, MGC29840","Psoriasis 14 Pustular"]
[null,"IL6R","","CD126, IL-6R, IL-1RA, IL6RA, GP80","Hyper-Ige Recurrent Infection Syndrome 5 Autosomal Recessive"]
[null,"IL6ST","","GP130, CD130, SGP130, IL-6RB","Hyper-Ige Recurrent Infection Syndrome 4 Autosomal Recessive"]
[null,"IL7R","","CD127, IL7RA","Severe Combined Immunodeficiency Autosomal Recessive T Cell-Negative B Cell-Positive Nk Cell-Positive"]
[null,"INO80","INOC1","KIAA1259, HINO80, INO80A",""]
[null,"IRAK1","","IRAK, PELLE","Systemic Lupus Erythematosus"]
[null,"IRAK4","","NY-REN-64","Immunodeficiency 67"]
[null,"IRF2BP2","","IRF-2BP2","Immunodeficiency Common Variable 14"]
[null,"IRF3","","","Encephalopathy Acute Infection-Induced Herpes-Specific Susceptibility To 7"]
[null,"IRF4","MUM1","LSIRF","Skin/Hair/Eye Pigmentation Variation In 8"]
[null,"IRF7","","","Immunodeficiency 39"]
[null,"IRF8","ICSBP1","IRF-8, ICSBP","Immunodeficiency 32B"]
[null,"IRF9","ISGF3G","","Immunodeficiency 65 Susceptibility To Viral Infections"]
[null,"ISG15","G1P2","IFI15, UCRP","Immunodeficiency 38 With Basal Ganglia Calcification"]
[null,"ITCH","","AIP4","Autoimmune Disease Syndromic Multisystem"]
[null,"ITGA2","CD49B","CD49B","Fetal And Neonatal Alloimmune Thrombocytopenia"]
[null,"ITGA2B","GP2B","CD41B, CD41, PPP1R93","Fetal And Neonatal Alloimmune Thrombocytopenia"]
[null,"ITGB2","CD18, MFI7","LFA-1, MAC-1","Leukocyte Adhesion Deficiency Type I"]
[null,"ITGB3","GP3A","CD61, GPIIIA","Fetal And Neonatal Alloimmune Thrombocytopenia"]
[null,"ITK","","EMT, PSCTK2, LYK","Lymphoproliferative Syndrome 1"]
[null,"JAGN1","","GL009, FLJ14602","Severe Congenital Neutropenia"]
[null,"JAK1","JAK1B","JAK1A, JTK3","Autoinflammation Immune Dysregulation And Eosinophilia"]
[null,"JAK2","","JTK10","Erythrocytosis Familial 1"]
[null,"JAK3","","L-JAK, JAKL, LJAK, JAK3_HUMAN, JAK-3","Severe Combined Immune Deficiency Autosomal Recessive T Cell-Negative B Cell -Positive Nk Cell-Negative Jak3-Related"]
[null,"KDM1A","AOF2, KDM1","KIAA0601, BHC110, LSD1","Developmental Delay And Distinctive Facial Features"]
[null,"KDM6A","UTX","","Kabuki Syndrome 2"]
[null,"KIF23","KNSL5","MKLP1, MKLP-1","Congenital Dyserythropoietic Anemia Type Iii"]
[null,"KLF1","","EKLF","Anemia Dyserythropoietic Congenital Type Iv"]
[null,"KMT2A","MLL","TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A","Wiedemann-Steiner Syndrome"]
[null,"KMT2D","TNRC21, MLL2","ALR, MLL4, CAGL114","Kabuki Syndrome"]
[null,"KRAS","KRAS2","KRAS1, K-RAS4B","Noonan Syndrome Type 3"]
[null,"LAMTOR2","ROBLD3","MAPBPIP, MAPKSP1AP, P14, ENDAP, RAGULATOR2","Immunodeficiency Due To Defect In Mapbp-Interacting Protein"]
[null,"LAT","","LAT1","Immunodeficiency 52"]
[null,"LCK","","","Immunodeficiency 22"]
[null,"LCT","","","Lactase Deficiency Congenital"]
[null,"LIG1","","",""]
[null,"LIG4","","","Lig4 Immunodeficiency Syndrome"]
[null,"LIPA","","LAL, CESD","Lysosomal Acid Lipase Deficiency"]
[null,"LPIN2","","KIAA0249","Majeed Syndrome"]
[null,"LRBA","CDC4L","BGL, LAB300, LBA","Childhood-Onset Hypogammaglobulinemia"]
[null,"LRRC8A","LRRC8","KIAA1437, FLJ10337, SWELL1","Agammaglobulinemia 5 Autosomal Dominant"]
[null,"LYST","CHS1","CHS, MAUVE","Chediak-Higashi Syndrome"]
[null,"LZTR1","","LZTR-1, BTBD29","Noonan Syndrome"]
[null,"MAD2L2","","MAD2B, REV7, POLZ2, FANCV","Fanconi Anemia Complementation Group V"]
[null,"MAGT1","","DKFZP564K142, IAP, OST3B, MRX95, SLC58A1","Immunodeficiency X-Linked With Magnesium Defect Epstein-Barr Virus Infection And Neoplasia"]
[null,"MALT1","MLT","PCASP1","Immunodeficiency 12"]
[null,"MAN2B1","MANB","LAMAN","Lysosomal Alpha-Mannosidosis"]
[null,"MANBA","","","Lysosomal Beta-Mannosidosis"]
[null,"MAP2K1","PRKMK1","MEK1, MAPKK1","Cardiofaciocutaneous Syndrome"]
[null,"MAP2K2","PRKMK2","MEK2","Cardiofaciocutaneous Syndrome"]
[null,"MAP3K14","","NIK, HSNIK, FTDCR1B, HS","Nik Deficiency"]
[null,"MAP3K8","COT, ESTF","TPL-2, EST, C-COT, MEKK8",""]
[null,"MASP1","CRARF, PRSS5","MASP, MAP44, MASP-3, MAP-1","3Mc Syndrome 1"]
[null,"MASP2","MASP1P1","MAP19, SMAP, MAP-2","Masp2 Deficiency"]
[null,"MASTL","","FLJ14813, THC2, GWL","Autosomal Thrombocytopenia With Normal Platelets"]
[null,"MAT2A","","SAMS2, MATA2, MATII","Familial Thoracic Aortic Aneurysm And Aortic Dissection"]
[null,"MBL2","MBL","COLEC1","Mannose-Binding Lectin Deficiency"]
[null,"MCIDAS","MCIN","MCI, IDAS","Ciliary Dyskinesia Primary 42"]
[null,"MCM4","CDC21","CDC54, HCDC21, P1-CDC21, MGC33310","Immunodeficiency 54"]
[null,"MECOM","MDS1, EVI1","MDS1-EVI1, PRDM3, KMT8E","Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia"]
[null,"MEFV","MEF","FMF, TRIM20","Familial Mediterranean Fever"]
[null,"MLH1","COCA2","HNPCC, FCC2, HNPCC2","Muir-Torre Syndrome"]
[null,"MLPH","","L1RK3, L(1)-3RK, SLAC-2A, LN, EXOPHILIN-3","Griscelli Syndrome Type 3"]
[null,"MOGS","","GCS1, CWH41, DER7","Congenital Disorders Of Glycosylation"]
[null,"MPL","","CD110, TPOR, THPOR","Thrombocythemia 2"]
[null,"MPO","","","Myeloperoxidase Deficiency"]
[null,"MRAS","","M-RAS, R-RAS3, RRAS3","Noonan Syndrome 11"]
[null,"MRE11","MRE11A","ATLD","Ataxia Telangiectasia-Like Disorder"]
[null,"MS4A1","CD20","B1, BP35, MS4A2, FMC7","Immunodeficiency Common Variable 5"]
[null,"MSH2","COCA1","HNPCC, HNPCC1","Muir-Torre Syndrome"]
[null,"MSH6","GTBP","","Muir-Torre Syndrome"]
[null,"MSN","","","Immunodeficiency 50"]
[null,"MTHFD1","MTHFC, MTHFD","","Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia"]
[null,"MVK","","LRBP, MK","Hyper-Igd Syndrome"]
[null,"MYD88","","","Macroglobulinemia Waldenstrom Susceptibility To 1"]
[null,"MYH9","DFNA17","NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS","Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss"]
[null,"MYO5A","MYH12","MYO5, GS1, MYR12","Griscelli Syndrome Type 3"]
[null,"MYO5B","","KIAA1119","Microvillus Inclusion Disease"]
[null,"MYSM1","","KIAA1915","Bone Marrow Failure Syndrome 4"]
[null,"NAF1","","",""]
[null,"NBAS","","NAG","Acute Liver Failure Alf In Infancy And Childhood; Short Stature Optic Nerve Atrophy And Pelger-Huet Anomaly"]
[null,"NBEAL2","","KIAA0540","Gray Platelet Syndrome"]
[null,"NBN","NBS, NBS1","ATV, AT-V2, AT-V1","Nijmegen Breakage Syndrome"]
[null,"NCF1","","P47PHOX, NOXO2, NCF1A, SH3PXD1A","Granulomatous Disease Chronic Autosomal Recessive 1"]
[null,"NCF2","","P67PHOX, NOXA2","Granulomatous Disease Chronic Autosomal Recessive 2"]
[null,"NCF4","","P40PHOX, SH3PXD4","Granulomatous Disease Chronic Autosomal Recessive 3"]
[null,"NCKAP1L","HEM1","","Immunodeficiency 72 With Autoinflammation"]
[null,"NCSTN","","KIAA0253, APH2","Acne Inversa Familial 1"]
[null,"NEUROG3","","ATOH5, MATH4B, NGN3, BHLHA7","Diarrhea 4 Malabsorptive Congenital"]
[null,"NF1","","","Neurofibromatosis Type 1"]
[null,"NFAT5","","TONEBP, KIAA0827, NFATL1, OREBP, NFATZ, NF-AT5","Inflammatory Bowel Disease-Recurrent Sinopulmonary Infections Syndrome"]
[null,"NFE2L2","","NRF2","Immunodeficiency Developmental Delay And Hypohomocysteinemia"]
[null,"NFIL3","IL3BP1","E4BP4, NFIL3A, NF-IL3A",""]
[null,"NFKB1","","KBF1, P105, NFKB-P50, P50, NF-KAPPAB, NFKAPPAB, NF-KB1","Immunodeficiency Common Variable 12"]
[null,"NFKB2","","LYT-10, P52, P105, NF-KB2, P49/P100","Immunodeficiency Common Variable 10"]
[null,"NFKBIA","NFKBI","IKBA, MAD-3, IKAPPABALPHA","Ectodermal Dysplasia And Immunodeficiency 2"]
[null,"NHEJ1","","CERNUNNOS, XLF, FLJ12610","Severe Combined Immunodeficiency With Microcephaly Growth Retardation And Sensitivity To Ionizing Radiation"]
[null,"NHP2","NOLA2","FLJ20479","Dyskeratosis Congenita Autosomal Recessive 2"]
[null,"NLRC4","CARD12","CLAN1, IPAF, CLANA, CLANB, CLANC, CLAND, CLR2.1, CLAN","Familial Cold Autoinflammatory Syndrome 4"]
[null,"NLRP1","NALP1, SLEV1","KIAA0926, DKFZP586O1822, CARD7, NAC, CLR17.1, DEFCAP, VAMAS1","Autoinflammation With Arthritis And Dyskeratosis"]
[null,"NLRP12","NALP12","RNO2, PYPAF7, MONARCH1, PAN6, CLR19.3","Familial Cold Autoinflammatory Syndrome 2"]
[null,"NLRP3","C1ORF7, CIAS1, DFNA34","AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1","Deafness Autosomal Dominant 34 With Or Without Inflammation"]
[null,"NME8","TXNDC3","CILD6, SPTRX2, NM23-H8, DNAI8","Ciliary Dyskinesia Primary 6"]
[null,"NOD2","IBD1, CARD15","BLAU, CD, PSORAS1, CLR16.3, NLRC2","Blau Syndrome"]
[null,"NOP10","NOLA3","NOP10P, MGC70651","Dyskeratosis Congenita Autosomal Recessive 1"]
[null,"NRAS","","N-RAS","Noonan Syndrome Type 6"]
[null,"NSMCE2","C8ORF36","FLJ32440, MMS21, NSE2, ZMIZ7","Seckel Syndrome 10"]
[null,"NSMCE3","NDNL2","HCA4, MAGEG1, MAGEL3, NSE3","Distinct Dna Breakage Syndrome"]
[null,"NUP214","","CAIN, CAN, D9S46E, N214","Acute Febrile Encephalopathy"]
[null,"OAS1","OIAS","OIASI, IFI-4","Infantile-Onset Pulmonary Alveolar Proteinosis-Hypogammaglobulinemia"]
[null,"ODAD1","CCDC114","FLJ32926, CILD20","Primary Ciliary Dyskinesia"]
[null,"ODAD2","ARMC4","FLJ10817, FLJ10376, DKFZP434P1735, CILD23, GUDU","Ciliary Dyskinesia Primary 23"]
[null,"OFD1","CXORF5, RP23","71-7A, JBTS10","Joubert Syndrome Type 10"]
[null,"ORAI1","TMEM142A","FLJ14466, CRACM1","Immunodeficiency 9"]
[null,"OSTM1","","HSPC019, GL","Osteopetrosis Autosomal Recessive 5"]
[null,"OTUD6B","","CGI-77, DUBA5","Intellectual Disability Syndrome Associated With Seizures And Dysmorphic Features"]
[null,"OTULIN","FAM105B","FLJ34884","Otulin-Related Auto Inflammatory Syndrome"]
[null,"PALB2","","FLJ21816, FANCN","Fanconi Anemia Complementation Group N"]
[null,"PARN","","DAN","Dyskeratosis Congenita Autosomal Recessive 6"]
[null,"PAX5","","BSAP","Leukemia Acute Lymphoblastic Susceptibility To 3"]
[null,"PEPD","","","Prolidase Deficiency"]
[null,"PGM3","","AGM1, DKFZP434B187, PAGM","Immunodeficiency 23"]
[null,"PIGA","","GPI3","Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2"]
[null,"PIK3CD","","P110D","Immunodeficiency 14"]
[null,"PIK3R1","","GRB1, P85-ALPHA, P85","Short Syndrome"]
[null,"PLCG2","","","Familial Cold Autoinflammatory Syndrome 3"]
[null,"PLEKHM1","","KIAA0356","Osteopetrosis Autosomal Dominant 3"]
[null,"PLG","","","Plasminogen Deficiency Type I Ligneous Conjunctivitis Included"]
[null,"PMM2","CDG1","CDGS, CDG1A, PMI, PMI1","Congenital Disorders Of Glycosylation"]
[null,"PMS2","PMSL2","H_DJ0042M02.9, HNPCC4, MLH4","Constitutional Mismatch Repair Deficiency Syndrome"]
[null,"PNP","NP","PUNP","Purine Nucleoside Phosphorylase Deficiency"]
[null,"POLA1","POLA, NSX","P180","Van Esch-Odriscoll Syndrome"]
[null,"POLD1","POLD","CDC2","Subcutaneous Lipodystrophy Deafness Mandibular Hypoplasia And Male Hypogonadism"]
[null,"POLD2","","",""]
[null,"POLE","","POLE1","Intrauterine Growth Retardation Metaphyseal Dysplasia Adrenal Hypoplasia Congenita Genital Anomalies And Immunodeficiency"]
[null,"POLE2","","DPE2",""]
[null,"POLR3A","","RPC1, RPC155, HRPC155, C160","Autosomal Recessive Wiedemann Rautenstrauch Syndrome"]
[null,"POLR3C","","RPC62, RPC3, C82",""]
[null,"POLR3F","","RPC39, RPC6, C34",""]
[null,"POMP","C13ORF12","HSPC014, UMP1","Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma"]
[null,"POT1","","HPOT1, DKFZP586D211","Coats Plus"]
[null,"PPP1CB","","PP1B, PP-1B, PP1BETA, PP1C, MP, PPP1BETA","Rasopathy With Developmental Delay Short Stature And Sparse Slow-Growing Hair"]
[null,"PRF1","","PFP, P1, HPLH2","Hemophagocytic Lymphohistiocytosis Familial 2"]
[null,"PRG4","CACP","JCAP, SZP, MSF, HAPO, BG174L6.2, FLJ32635","Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome"]
[null,"PRKACG","","PKACG","Bleeding Disorder Platelet-Type 19"]
[null,"PRKCD","","","Autoimmune Lymphoproliferative Syndrome Type Iii"]
[null,"PRKDC","HYRC, HYRC1","DNPK1, P350, DNAPK, XRCC7, DNA-PKCS, DNAPKC, DNA-PKC, P460","Immunodeficiency 26 With Or Without Neurologic Abnormalities"]
[null,"PSEN1","AD3","FAD, S182, PS1","Pick Disease Of Brain"]
[null,"PSENEN","","PEN2","Acne Inversa Familial 2 With Or Without Dowling-Degos Disease"]
[null,"PSMB8","LMP7","RING10, D6S216E, PSMB5I, BETA5I","Nakajo Syndrome"]
[null,"PSMG2","TNFSF5IP1","HCCA3, MDS003, MGC15092, CLAST3, HST1707, PAC2",""]
[null,"PSTPIP1","","PSTPIP, CD2BP1L, CD2BP1, CD2BP1S, H-PIP, PAPAS","Pyogenic Sterile Arthritis Pyoderma Gangrenosum And Acne"]
[null,"PTEN","BZS, MHAM","MMAC1, TEP1, PTEN1","Proteus Syndrome"]
[null,"PTPN11","NS1","BPTP3, SH-PTP2, SHP-2, PTP2C, SHP2","Noonan Syndrome 1"]
[null,"PTPRC","CD45","LCA, T200, GP180","Severe Combined Immunodeficiency Autosomal Recessive T Cell-Negative B Cell-Positive Nk Cell-Positive"]
[null,"PTX3","TNFAIP5","TSG-14",""]
[null,"PUS1","","","Myopathy Lactic Acidosis And Sideroblastic Anemia 1"]
[null,"RAB27A","","RAB27, RAM, GS2, HST18676","Griscelli Syndrome Type 2"]
[null,"RAC2","","EN-7","Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis"]
[null,"RAD50","","HRAD50, RAD50-2","Nijmegen Breakage Syndrome-Like Disorder"]
[null,"RAD51","RAD51A, RECA","HSRAD51, HST16930, BRCC5, FANCR","Fanconi Anemia Complementation Group R"]
[null,"RAD51C","","RAD51L2, FANCO","Fanconi Anemia Complementation Group 0"]
[null,"RAF1","","RAF-1, C-RAF, CRAF","Noonan Syndrome 5"]
[null,"RAG1","","RNF74, MGC43321","Severe Combined Immunodeficiency Autosomal Recessive T Cell-Negative B Cell-Negative Nk Cell-Positive"]
[null,"RAG2","","","Severe Combined Immunodeficiency Autosomal Recessive T Cell-Negative B Cell-Negative Nk Cell-Positive"]
[null,"RANBP2","ANE1","NUP358, ADANE","Acute Necrotizing Encephalopathy 1 Susceptibility To"]
[null,"RAP1A","","KREV-1, SMGP21",""]
[null,"RAP1B","","K-REV, RAL1B, DKFZP586H0723","Rap1B-Related Developmental Disorder"]
[null,"RASA2","","GAP1M","Noonan Syndrome"]
[null,"RASGRP1","","CALDAG-GEFII, RASGRP","Immunodeficiency 64"]
[null,"RBCK1","C20ORF18","RBCK2, XAP4, RNF54, ZRANB4, UBCE7IP3, HOIL1","Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency"]
[null,"RBM8A","RBM8","ZNRP, BOV-1A, BOV-1B, BOV-1C, RBM8B, Y14","Thrombocytopenia-Absent Radius Syndrome"]
[null,"RECQL4","","RECQ4","Baller-Gerold Syndrome"]
[null,"REL","","I-REL, C-REL, HIVEN86A",""]
[null,"RELA","NFKB3","P65","Mucocutaneous Ulceration Chronic"]
[null,"RELB","","REL-B","Immunodeficiency 53"]
[null,"RFWD3","","FLJ10520, RNF201, FANCW","Fanconi Anemia Complementation Group W"]
[null,"RFX5","","","Bare Lymphocyte Syndrome Type Ii"]
[null,"RFXANK","","BLS, RFX-B, ANKRA1, F14150_1, MGC138628","Bare Lymphocyte Syndrome Type Ii"]
[null,"RFXAP","","","Bare Lymphocyte Syndrome Type Ii"]
[null,"RHOH","ARHH","TTF","Epidermodysplasia Verruciformis Susceptibility To 4"]
[null,"RIPK1","","RIP","Autoinflammation With Episodic Fever And Lymphadenopathy"]
[null,"RIT1","RIT","RIBB, ROC1, MGC125864, MGC125865","Noonan Syndrome 8"]
[null,"RMRP","CHH","RMRPR, RRP2, NME1","Omenn Syndrome"]
[null,"RNASEH2A","","RNASEHI, RNHIA, RNHL, AGS4","Aicardi-Goutieres Syndrome 4"]
[null,"RNASEH2B","DLEU8, AGS2","FLJ11712","Aicardi-Goutieres Syndrome 2"]
[null,"RNASEH2C","","AYP1, AGS3","Aicardi-Goutieres Syndrome 3"]
[null,"RNF168","","FLJ35794","Riddle Syndrome"]
[null,"RNF31","","ZIBRA, FLJ10111, FLJ23501, HOIP, PAUL","Autoinflammatory Syndrome With Pyogenic Bacterial Infection And Amylopectinosis"]
[null,"RNU4ATAC","","RNU4ATAC1, U4ATAC","Microcephalic Osteodysplastic Primordial Dwarfism Type I"]
[null,"RORC","","RZRG, RORG, NR1F3, TOR","Immunodeficiency 42"]
[null,"RPGR","CRD, RP3, RP15, COD1","CORDX1","Retinitis Pigmentosa X-Linked And Sinorespiratory Infections With Or Without Deafness"]
[null,"RPL10","","NOV, QM, DXS648E, DXS648, FLJ23544, L10","Mental Retardation X-Linked Syndromic 35"]
[null,"RPL11","","L11, UL5","Diamond-Blackfan Anemia With Cleft Palate And Abnormal Thumbs"]
[null,"RPL15","","RPL10, RPLY10, RPYL10, EC45, L15","Diamond-Blackfan Anemia 12"]
[null,"RPL18","","L18","Diamond-Blackfan Anemia 18"]
[null,"RPL19","","FLJ27452, MGC71997, DKFZP779D216, L19",""]
[null,"RPL26","","L26","Diamond-Blackfan Anemia 11"]
[null,"RPL27","","L27","Diamond-Blackfan Anemia 16"]
[null,"RPL35A","","L35A, EL33, GIG33","Diamond-Blackfan Anemia 5"]
[null,"RPL36","","DKFZP566B023, L36",""]
[null,"RPL5","","L5, PPP1R135, UL18","Diamond-Blackfan Anemia 6"]
[null,"RPL9","","L9",""]
[null,"RPS10","","MGC88819, S10","Diamond-Blackfan Anemia 9"]
[null,"RPS14","","EMTB, S14","Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality"]
[null,"RPS15","","RIG, MGC111130, S15","B-Cell Chronic Lymphocytic Leukemia"]
[null,"RPS15A","","S15A","Diamond-Blackfan Anemia 20"]
[null,"RPS19","LOH19CR1","S19, ES19, DBA","Rps19-Related Diamond-Blackfan Anemia"]
[null,"RPS24","","S24, ES24","Diamond-Blackfan Anemia 3"]
[null,"RPS26","","S26, ES26","Diamond-Blackfan Anemia 10"]
[null,"RPS27","","MPS-1, MPS1, S27","Diamond-Blackfan Anemia 17"]
[null,"RPS27A","","UBCEP80, UBA80, S27A",""]
[null,"RPS28","","S28, ES28","Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis"]
[null,"RPS29","","S29, US14","Diamond-Blackfan Anemia 13"]
[null,"RPS7","","S7, ES7","Diamond-Blackfan Anemia 8"]
[null,"RPSA","LAMR1","LRP, 37LRP, P40, SA","Asplenia Isolated Congenital"]
[null,"RRAS","","R-RAS","Atypical Noonan Syndrome"]
[null,"RSPH1","TSGA2","FLJ32753, RSP44, RSPH10A, CILD24","Primary Ciliary Dyskinesia With Central-Complex And Radial-Spoke Defects"]
[null,"RSPH3","RSHL2","DJ111C20.1, RSP3","Primary Ciliary Dyskinesia With Central-Complex Defects"]
[null,"RSPH4A","RSHL3","DJ412I7.1, FLJ37974, RSPH6B, CILD11","Ciliary Dyskinesia Primary 11"]
[null,"RSPH9","MRPS18AL1, C6ORF206","FLJ30845, CILD12","Ciliary Dyskinesia Primary 12"]
[null,"RTEL1","C20ORF41","BK3184A7.3, NHL, DKFZP434C013, KIAA1088, RTEL","Dyskeratosis Congenita Autosomal Dominant 4"]
[null,"RUNX1","AML1, CBFA2","PEBP2A2, AMLCR1","Platelet Disorder Familial With Associated Myeloid Malignancy"]
[null,"SAMD9","C7ORF5","KIAA2004, FLJ20073","Mirage - Myelodysplasia Infection Restriction Of Growth Adrenal Hypoplasia Genital Phenotypes Enteropathy"]
[null,"SAMD9L","C7ORF6","KIAA2005, FLJ39885","Ataxia-Pancytopenia Syndrome"]
[null,"SAMHD1","","SBBI88, MG11, HDDC1, MOP-5, AGS5","Aicardi-Goutieres Syndrome"]
[null,"SAR1B","SARA2","","Chylomicron Retention Disease"]
[null,"SBDS","","CGI-97, FLJ10917, SDS, SWDS, SDO1","Shwachman-Diamond Syndrome"]
[null,"SBF2","CMT4B2","KIAA1766, MTMR13, DENND7B","Charcot-Marie-Tooth Disease Type 4B2"]
[null,"SEC23B","CDAN2","CDA-II, CDAII, HEMPAS","Anemia Dyserythropoietic Congenital Type Ii"]
[null,"SEC61A1","","","Autosomal-Dominant Tubulo-Interstitial And Glomerulocystic Kidney Disease With Anemia"]
[null,"SEMA3E","SEMAH","M-SEMAK, KIAA0331, COLL-5","Hypogonadotropic Hypogonadism 7 With Or Without Anosmia"]
[null,"SERPING1","C1NH","C1IN, C1-INH, HAE1, HAE2, C1INH","Angioedema Hereditary Type I"]
[null,"SH2D1A","IMD5, LYP","XLP, MTCP1, DSHP, XLPD, EBVS, SAP","Lymphoproliferative Syndrome X-Linked 1"]
[null,"SH3BP2","","RES4-23, CRBM","Cherubism"]
[null,"SH3KBP1","","CIN85","Immunodeficiency 61"]
[null,"SHOC2","","KIAA0862, SOC2, SUR-8, SOC-2, SUR8","Noonan-Like Syndrome With Loose Anagen Hair"]
[null,"SI","","","Sucrase-Isomaltase Deficiency Congenital"]
[null,"SKIV2L","SKIV2","HLP, DDX13, SKI2W, 170A, SKIV2L1","Trichohepatoenteric Syndrome 2"]
[null,"SLC10A2","ASBT, ISBT","","Bile Acid Malabsorption Primary"]
[null,"SLC19A2","TRMA","THTR1","Thiamine-Responsive Megaloblastic Anemia Syndrome"]
[null,"SLC25A38","","FLJ20551","Anemia Sideroblastic Pyridoxine-Refractory Autosomal Recessive"]
[null,"SLC26A3","DRA, CLD","","Diarrhea 1 Secretory Chloride Congenital"]
[null,"SLC29A3","","ENT3, FLJ11160","Histiocytosis-Lymphadenopathy Plus Syndrome"]
[null,"SLC35A1","","CMPST, HCST","Congenital Disorders Of Glycosylation"]
[null,"SLC35C1","","FUCT1, FLJ11320","Congenital Disorder Of Glycosylation Type 2C"]
[null,"SLC37A4","G6PT1, G6PT2, G6PT3","GSD1B, GSD1C, GSD1D","Glycogen Storage Disease Ic"]
[null,"SLC39A4","AEZ","ZIP4, AWMS2","Acrodermatitis Enteropathica Zinc-Deficiency Type"]
[null,"SLC39A7","HKE4","H2-KE4, D6S2244E, KE4, RING5, ZIP7",""]
[null,"SLC46A1","","HCP1, MGC9564, PCFT","Hereditary Folate Malabsorption"]
[null,"SLC5A1","SGLT1","D22S675, NAGT","Glucose/Galactose Malabsorption"]
[null,"SLC7A7","LPI","Y+LAT-1","Lysinuric Protein Intolerance"]
[null,"SLC9A3","NHE3","","Diarrhea 8 Secretory Sodium Congenital"]
[null,"SLFN14","","","Bleeding Disorder Platelet-Type 20"]
[null,"SLX4","BTBD12","KIAA1784, KIAA1987, FANCP","Fanconi Anemia Complementation Group P"]
[null,"SMARCAL1","","HHARP, HARP","Schimke Immunoosseous Dysplasia"]
[null,"SMARCD2","","BAF60B, RSC6P, CRACD2, PRO2451","Specific Granule Deficiency 2"]
[null,"SNX10","","","Osteopetrosis Autosomal Recessive 8"]
[null,"SOS1","GINGF","HGF, GF1","Noonan Syndrome 4"]
[null,"SOS2","","","Noonan Syndrome 9"]
[null,"SP110","IFI41, IFI75","","Hepatic Venoocclusive Disease With Immunodeficiency"]
[null,"SPAG1","","SP75, FLJ32920, HSD-3.8, TPIS, CT140, CILD28, DNAAF13","Primary Ciliary Dyskinesia Associated With Defective Outer And Inner Dynein Arms."]
[null,"SPINK5","","VAKTI, LEKTI, LETKI, NETS, NS, FLJ21544, FLJ97536, FLJ97596, FLJ99794, DKFZP686K19184","Netherton Syndrome"]
[null,"SPINT2","","KOP, HAI-2","Diarrhea 3 Secretory Sodium Congenital With Or Without Other Congenital Anomalies"]
[null,"SPPL2A","","IMP3, PSL2",""]
[null,"SPRED1","","FLJ33903, PPP1R147","Legius Syndrome"]
[null,"SRC","SRC1","ASV, C-SRC","Thrombocytopenia 6"]
[null,"SRP54","","","Syndromic Neutropenia With Shwachman-Diamond-Like Features"]
[null,"SRP72","","","Bone Marrow Failure Syndrome 1"]
[null,"STAT1","","STAT91, ISGF-3","Immunodeficiency 31A"]
[null,"STAT2","","STAT113","Recessive Gain Of Function Causing Increased Interferon Signalling"]
[null,"STAT3","","APRF","Hyper-Ige Recurrent Infection Syndrome 1 Autosomal Dominant"]
[null,"STAT5B","","","Growth Hormone Insensitivity With Immunodeficiency"]
[null,"STIM1","","GOK, D11S4896E","Tubular-Aggregate Myopathy"]
[null,"STING1","TMEM173","FLJ38577, NET23, ERIS, MPYS, STING, MITA","Sting-Associated Vasculopathy Infantile-Onset"]
[null,"STK36","","KIAA1278, FU","Primary Ciliary Dyskinesia"]
[null,"STK4","","MST1, KRS2, YSK3","T-Cell Immunodeficiency Recurrent Infections And Autoimmunity With Or Without Cardiac Malformations"]
[null,"STN1","OBFC1","FLJ22559, BA541N10.2","Cerebroretinal Microangiopathy With Calcifications And Cysts 2"]
[null,"STX11","","","Hemophagocytic Lymphohistiocytosis Familial 4"]
[null,"STX3","STX3A","","Microvillus Inclusion Disease"]
[null,"STXBP2","","UNC18B, HUNC18B, UNC18-2, MUNC18-2","Hemophagocytic Lymphohistiocytosis Familial 5"]
[null,"STXBP3","","UNC-18C",""]
[null,"TAFAZZIN","CMD3A, EFE2, EFE, TAZ","BTHS, G4.5, TAZ1","Barth Syndrome"]
[null,"TAP1","ABCB2","PSF1, RING4, D6S114E","Bare Lymphocyte Syndrome Type I"]
[null,"TAP2","ABCB3","PSF2, RING11, D6S217E","Bare Lymphocyte Syndrome Type I"]
[null,"TAPBP","","TAPA","Bare Lymphocyte Syndrome Type I"]
[null,"TASP1","C20ORF13","FLJ20212, DJ585I14.2","Developmental Delay Happy Demeanor Distinctive Facial Features And Congenital Anomalies"]
[null,"TBK1","","NAK","Encephalopathy Acute Infection-Induced Herpes-Specific Susceptibility To 8"]
[null,"TBX1","VCF","CATCH22","Digeorge Syndrome"]
[null,"TCF3","","E2A, ITF1, MGC129647, MGC129648, BHLHB21, VDIR, E47, P75","Agammaglobulinemia 8 Autosomal Dominant"]
[null,"TCIRG1","","TIRC7, OC-116, OC116, ATP6N1C, ATP6I, A3, ATP6V0A3","Osteopetrosis Autosomal Recessive 1"]
[null,"TCN2","","D22S676, D22S750, TC2","Transcobalamin Ii Deficiency"]
[null,"TERC","","TR, HTR, TRC3, SCARNA19","Dyskeratosis Congenita Autosomal Dominant 1"]
[null,"TERF2","TRBF2","TRF2",""]
[null,"TERF2IP","","RAP1","Familial Melanoma"]
[null,"TERT","","TRT, TP2, TCS1, HEST2, EST2","Dyskeratosis Congenita Autosomal Recessive 4"]
[null,"TFRC","","CD71, TFR1, P90","Combined Immunodeficiency"]
[null,"TGFB1","TGFB, DPD1","CED, TGFBETA","Camurati-Engelmann Disease"]
[null,"TGFBR1","MSSE, ESS1","ALK-5, ACVRLK4, ALK5, TBRI, TBR-I","Loeys-Dietz Syndrome"]
[null,"TGFBR2","MFS2","TBRII, TBR-II","Loeys-Dietz Syndrome 2"]
[null,"THBD","","CD141, THRM, BDCA-3","Hemolytic Uremic Syndrome Atypical Susceptibility To 6"]
[null,"THPO","MGDF","TPO, MPLLG","Thrombocythemia 1"]
[null,"THRA","THRA1, THRA2, ERBA1","EAR-7.1/EAR-7.2, THRA3, AR7, ERBA, NR1A1, TRALPHA","Hypothyroidism Congenital Nongoitrous 6"]
[null,"THRB","ERBA2, PRTH","THRB1, THRB2, NR1A2, THR1, ERBA-BETA, GRTH, TRBETA","Thyroid Hormone Resistance Generalized Autosomal Recessive"]
[null,"TICAM1","","TRIF, TICAM-1, MGC35334, PRVTIRB","Encephalopathy Acute Infection-Induced Herpes-Specific Susceptibility To 6"]
[null,"TINF2","","TIN2","Exudative Retinopathy With Bone Marrow Failure"]
[null,"TIRAP","","MAL, WYATT","Bacteremia Susceptibility To 1"]
[null,"TLR3","","CD283","Encephalopathy Acute Infection-Induced Herpes-Specific Susceptibility To 2"]
[null,"TMC6","EVER1, TNRC6C-AS1","LAK-4P, EVIN1","Epidermodysplasia Verruciformis Susceptibility To 1"]
[null,"TMC8","EVER2","EVIN2","Epidermodysplasia Verruciformis Susceptibility To 2"]
[null,"TNFAIP3","","A20, OTUD7C","Autoinflammatory Syndrome Familial Behcet-Like"]
[null,"TNFRSF11A","PDB2, LOH18CR1","RANK, CD265, FEO, ODFR, TRANCE-R","Familial Expansile Osteolysis"]
[null,"TNFRSF13B","","TACI, CD267, IGAD2","Immunodeficiency Common Variable 2"]
[null,"TNFRSF13C","","BAFFR, CD268","Immunodeficiency Common Variable 2"]
[null,"TNFRSF1A","TNFR1","TNF-R, TNFAR, TNFR60, TNF-R-I, CD120A, TNF-R55","Periodic Fever Familial Autosomal Dominant"]
[null,"TNFRSF4","TXGP1L","ACT35, OX40, CD134","Immunodeficiency 16"]
[null,"TNFRSF9","ILA","CD137, 4-1BB",""]
[null,"TNFSF11","","TRANCE, RANKL, OPGL, ODF, CD254","Osteopetrosis Autosomal Recessive 2"]
[null,"TNFSF12","","TWEAK, DR3LG, APO3L","Common Variable Immunodeficiency"]
[null,"TOP2B","","TOP2BETA, TOPIIB","B-Cell Immunodeficiency-Limb Anomaly-Urogenital Malformation Syndrome"]
[null,"TP53","","P53, LFS1","Li-Fraumeni Syndrome"]
[null,"TPP2","","TPPII","Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome"]
[null,"TRAC","","","Tcr-Alpha-Beta-Positive T-Cell Deficiency"]
[null,"TRADD","","HS.89862",""]
[null,"TRAF3","","CAP-1, CD40BP, CRAF1, LAP1, RNF118","Encephalopathy Acute Infection-Induced Herpes-Specific Susceptibility To 5"]
[null,"TRAF3IP2","C6ORF4, C6ORF5, C6ORF6, C6ORF2","DKFZP586G0522, ACT1, CIKS","Psoriasis 13 Susceptibility To"]
[null,"TREX1","AGS1","DRN3","Aicardi-Goutieres Syndrome 1 Dominant And Recessive"]
[null,"TRIM22","","STAF50, GPSTAF50, RNF94",""]
[null,"TRNT1","","MTCCA, CGI-47, CCA1","Sideroblastic Anemia With B-Cell Immunodeficiency Periodic Fevers And Developmental Delay"]
[null,"TSR2","","DT1P1A10, RP1-112K5.2, WGG1","Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis"]
[null,"TTC37","KIAA0372","THES","Trichohepatoenteric Syndrome"]
[null,"TTC7A","TTC7","KIAA1140","Intestinal Atresia Multiple"]
[null,"TUBB1","","DJ543J19.4","Macrothrombocytopenia Autosomal Dominant Tubb1-Related"]
[null,"TYK2","","JTK1","Immunodeficiency 35"]
[null,"UBE2T","","HSPC150, FANCT","Fanconi Anemia Complementation Group T"]
[null,"UNC119","","HRG4, POC7, POC7A","Immunodeficiency 13"]
[null,"UNC13D","","MUNC13-4","Hemophagocytic Lymphohistiocytosis Familial 3"]
[null,"UNC93B1","","UNC93","Encephalopathy Acute Infection-Induced Herpes-Specific Susceptibility To 1"]
[null,"UNG","DGU","UDG, UNG1, UNG2, HIGM4","Immunodeficiency With Hyper-Igm Type 5"]
[null,"USB1","C16ORF57","FLJ13154, HVSL1, MPN1","Poikiloderma With Neutropenia"]
[null,"USP18","","","Severe Pseudo-Torch Syndrome"]
[null,"VPS13B","CHS1, COH1","","Cohen Syndrome"]
[null,"VPS45","VPS45B, VPS45A","H-VPS45, H1","Neutropenia Severe Congenital 5 Autosomal Recessive"]
[null,"VSIG4","","Z39IG, CRIG",""]
[null,"VTN","","VN",""]
[null,"WAS","IMD2, THC","WASP, WASPA","Thrombocytopenia 1"]
[null,"WDR1","","","Periodic Fever Immunodeficiency And Thrombocytopenia Syndrome"]
[null,"WIPF1","WASPIP","WIP","Wiskott-Aldrich Syndrome 2"]
[null,"WRAP53","WDR79","FLJ10385, TCAB1","Dyskeratosis Congenita Autosomal Recessive 3"]
[null,"XIAP","API3, BIRC4","HILP, ILP-1","Lymphoproliferative Syndrome X-Linked 1"]
[null,"XRCC2","","FANCU","Fanconi Anemia Complementation Group U"]
[null,"ZAP70","SRK","ZAP-70, STD","Immunodeficiency 48"]
[null,"ZBTB24","ZNF450","KIAA0441, BIF1, PATZ2","Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2"]
[null,"ZCCHC8","","DKFZP434E2220","Autosomal Recessive Mental Retardation"]
[null,"ZMYND10","","BLU, CILD22, DNAAF7","Primary Ciliary Dyskinesia-22"]
[null,"ZNF341","","DJ553F4.3","Hyper-Ige Recurrent Infection Syndrome 3 Autosomal Recessive"]

{"sheet":"Epilepsy","index":6,"n_rows":767,"n_cols":5,"rows_kept":767,"cut":false,"hidden":true,"merged":[[0,1,0,4]]}
[null,"Epilepsy Panel"]
[null,"Gene","Previous Symbols","Alias Symbols","Disease Association"]
[null,"AARS1","AARS","CMT2N, ALARS","Early-Onset Epileptic Encephalopathy With Persistent Myelination Defect."]
[null,"ABAT","","GABAT, GABA-T","Abat-Related Gaba-Transaminase Deficiency"]
[null,"ABCA2","ABC2","","Intellectual Developmental Disorder With Poor Growth And With Or Without Seizures Or Ataxia"]
[null,"ABCD1","ALD","AMN, ALDP, ADRENOLEUKODYSTROPHY","Adrenoleukodystrophy X-Linked"]
[null,"ACOX1","","PALMCOX","Adrenoleukodystrophy Pseudoneonatal"]
[null,"ACTL6B","ACTL6","BAF53B, SMARCN2","Epileptic Encephalopathy Early Infantile"]
[null,"ACY1","","","Aminoacylase-1 Deficiency"]
[null,"ADAM22","","MDC2","Developmental And Epileptic Encephalopathy 61"]
[null,"ADAR","IFI4, G1P1","ADAR1","Dyschromatosis Symmetrica Hereditaria 1"]
[null,"ADARB1","","ADAR2, DRADA2, ADAR2G, DRABA2, RED1, HRED1, ADAR2A-L1, ADAR2A-L2, ADAR2A-L3, ADAR2A, ADAR2B, ADAR2C, ADAR2D","Adarb1-Associated Microcephaly Intellectual Disability And Seizures"]
[null,"ADAT3","","TAD3","Mental Retardation Autosomal Recessive 36"]
[null,"ADGRG1","GPR56","TM7LN4, TM7XN1","Polymicrogyria"]
[null,"ADNP","","KIAA0784, ADNP1","Helsmoortel-Van Der Aa Syndrome"]
[null,"ADPRS","ADPRHL2","ARH3, FLJ20446","Neurodegeneration With Developmental Delay Ataxia And Axonal Neuropathy"]
[null,"ADSL","","","Adenylosuccinase Deficiency"]
[null,"AFF3","LAF4","MLLT2-LIKE","Skeletal Dysplasia With Severe Neurological Disease"]
[null,"AFG3L2","SCA28","SPAX5","Ataxia Spastic 5 Autosomal Recessive"]
[null,"AGA","","ASRG","Aspartylglucosaminuria"]
[null,"AIFM1","PDCD8, NAMSD, AUNX1","AIF, CMTX4, DFNX5","Combined Oxidative Phosphorylation Deficiency 6"]
[null,"AIMP1","SCYE1","EMAPII, EMAP-2, P43","Leukodystrophy Hypomyelinating 3"]
[null,"AIMP2","","P38, PRO0992, JTV-1, JTV1","Leukodystrophy Hypomyelinating 17"]
[null,"AKT3","","PKBG, RAC-GAMMA, PRKBG","Hemimegalencephaly Akt3"]
[null,"ALDH3A2","SLS, ALDH10","FALDH","Sjoegren-Larsson Syndrome"]
[null,"ALDH5A1","","SSADH, SSDH","Succinate-Semialdehyde Dehydrogenase Deficiency"]
[null,"ALDH7A1","ATQ1","EPD, PDE","Pyridoxine-Dependent Epilepsy"]
[null,"ALG1","","HMT-1, HMAT1, CDG1K, MAT-1","Congenital Disorder Of Glycosylation Type Ik"]
[null,"ALG11","","KIAA0266, CDG1P","Congenital Disorder Of Glycosylation Type Ip"]
[null,"ALG13","GLT28D1, CXORF45","MDS031, YGL047W, FLJ23018, TDRD13, CDG1S","Congenital Disorder Of Glycosylation Type Is"]
[null,"ALG14","","MGC19780","Intellectual Developmental Disorder With Epilepsy Behavioral Abnormalities And Coarse Facies"]
[null,"ALG3","","NOT56L, NOT56, CDGS4, D16ERTD36E","Congenital Disorder Of Glycosylation Type Id"]
[null,"ALG6","","","Congenital Disorder Of Glycosylation Type Ic"]
[null,"ALG8","","MGC2840","Congenital Disorder Of Glycosylation Type Ih"]
[null,"ALG9","DIBD1","","Congenital Disorder Of Glycosylation Type Il"]
[null,"ALKBH8","","MGC10235, TRM9, TRMT9A","Intellectual Developmental Disorder Autosomal Recessive 71"]
[null,"ALPL","HOPS","TNSALP, TNALP, TNAP","Hypophosphatasia"]
[null,"AMACR","","RACE, P504S","Bile Acid Synthesis Defect Congenital 4"]
[null,"AMPD2","","SPG63","Pontocerebellar Hypoplasia"]
[null,"AMT","","GCST, NKH","Glycine Encephalopathy"]
[null,"ANKRD11","","LZ16, T13","Kbg Syndrome"]
[null,"AP2M1","CLAPM1","AP50, MU2","Developmental And Epileptic Encephalopathy"]
[null,"AP3B2","","NAPTB","Epileptic Encephalopathy With Optic Atrophy"]
[null,"AP4B1","SPG47","BETA-4","Cerebral Palsy Spastic Quadriplegic Type 5"]
[null,"AP4E1","","AP-4-EPSILON, SPG51","Cerebral Palsy Spastic Quadriplegic Type 4"]
[null,"AP4M1","","MU-ARP2, MU-4, SPG50","Cerebral Palsy Spastic Quadriplegic Type 3"]
[null,"AP4S1","","CLA20, AP47B, SPG52","Cerebral Palsy Spastic Quadriplegic Type 6"]
[null,"APC2","","APCL","Lissencephaly Subcortical Heterotopia And Global Developmental Delay"]
[null,"ARFGEF2","","BIG2","Periventricular Heterotopia With Microcephaly"]
[null,"ARG1","","","Argininemia"]
[null,"ARHGEF9","","KIAA0424, PEM-2","Arhgef9-Related Developmental Disorder X-Linked Dominant"]
[null,"ARID1B","","KIAA1235, ELD/OSA1, P250R, BAF250B, DAN15, 6A3-5, SMARCF2","Coffin Siris Syndrome"]
[null,"ARSA","","","Arylsulfatase A Deficiency"]
[null,"ARV1","","","Developmental And Epileptic Encephalopathy 38"]
[null,"ARX","MRXS1, PRTS, MRX76, MRX54, MRX43, MRX36, MRX29, MRX32, MRX33, MRX38, MRX87","ISSX, CT121, EIEE1","Partington Syndrome"]
[null,"ASAH1","ASAH","AC, PHP32, FLJ21558, ACDASE","Farber Lipogranulomatosis"]
[null,"ASNS","","","Asparagine Synthetase Deficiency"]
[null,"ASPA","","ASP, ACY2","Canavan Disease"]
[null,"ASXL3","KIAA1713","","Bainbridge-Ropers Syndrome"]
[null,"ATAD1","","FLJ14600, MSP1","Hyperekplexia 4"]
[null,"ATN1","D12S755E, DRPLA","B37","Congenital Hypotonia Epilepsy Developmental Delay Digit Abnormalities"]
[null,"ATP13A2","PARK9","HSA9947, CLN12","Spastic Paraplegia 78 Autosomal Recessive"]
[null,"ATP1A1","","","Renal Hypomagnesemia Refractory Seizures And Intellectual Disability"]
[null,"ATP1A2","MHP2","FHM2","Migraine Familial Hemiplegic Atp1A2-Related"]
[null,"ATP1A3","DYT12","","Alternating Hemiplegia Of Childhood"]
[null,"ATP5F1A","ATP5AL2, ATPM, ATP5A1","ATP5A, HATP1, OMR, ORM","Combined Oxidative Phosphorylation Deficiency 22"]
[null,"ATP6AP2","ATP6IP2","M8-9, APT6M8-9, ATP6M8-9, PRR, RENR","Mental Retardation X-Linked With Epilepsy"]
[null,"ATP6V0A2","","TJ6, A2, TJ6S, TJ6M, ATP6A2, J6B7, ATP6N1D, VPH1, STV1, A2V, RTF","Cutis Laxa Autosomal Recessive Type Iia"]
[null,"ATP6V1A","VPP2, ATP6A1, ATP6V1A1","VMA1, VA68","Epileptic Encephalopathy Infantile Or Early Childhood 3"]
[null,"ATP7A","MNK","","Spinal Muscular Atrophy Distal X-Linked 3"]
[null,"ATRX","RAD54, JMS, MRX52","XH2, XNP","Alpha-Thalassemia Mental Retardation Syndrome X-Linked Non-Deletion Type"]
[null,"BCKDHA","OVD1A","MSU","Maple Syrup Urine Disease"]
[null,"BCKDHB","","","Maple Syrup Urine Disease"]
[null,"BCKDK","","","Branched-Chain Keto Acid Dehydrogenase Kinase Deficiency"]
[null,"BCS1L","","HS.6719, BCS, H-BCS, BJS","Gracile Syndrome"]
[null,"BOLA3","","","Multiple Mitochondrial Dysfunctions Syndrome 2"]
[null,"BRAF","","BRAF1","Cardiofaciocutaneous Syndrome"]
[null,"BRAT1","C7ORF27, BAAT1","MGC22916","Lethal Neonatal Rigidity And Seizure Syndrome"]
[null,"BSCL2","GNG3LG, SPG17","SEIPIN","Spastic Paraplegia 17 Autosomal Dominant"]
[null,"BTD","","","Biotinidase Deficiency"]
[null,"C12ORF57","","GRCC10, C10","Temtamy Syndrome; Coloboma Hypoplastic Corpus Callosum And Intellectual Disability"]
[null,"CACNA1A","CACNL1A4, SCA6, MHP1, MHP","CAV2.1, EA2, APCA, HPCA, FHM","Epileptic Encephalopathy"]
[null,"CACNA1B","CACNL1A5","CAV2.2, CACNN","Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements"]
[null,"CACNA1D","CCHL1A2, CACNL1A2","CAV1.3, CACH3, CACN4","Primary Aldosteronism Seizures And Neurologic Abnormalities"]
[null,"CACNA1E","CACNL1A6","CAV2.3, BII, CACH6","Epileptic Encephalopathy With Contractures Macrocephaly And Dyskinesia"]
[null,"CACNA1G","","CAV3.1, NBR13","Cacna1G-Related Developmental Disorder Monoallelic"]
[null,"CACNA1H","","CAV3.2","Epilepsy Childhood Absence Susceptibility To 6"]
[null,"CACNA2D2","","KIAA0558","Cerebellar Atrophy With Seizures And Variable Developmental Delay"]
[null,"CACNB4","","EJM4","Juvenile Myoclonic Epilepsy"]
[null,"CAD","","GATD4","Uridine-Responsive Epileptic Encephalopathy"]
[null,"CAMK2B","CAMKB","CAM2, CAMK2, CAMKIIß","Intellectual Disability"]
[null,"CARS2","","FLJ12118","Epileptic Encephalopathy With Complex Movement Disorder And Regression"]
[null,"CASK","TNRC8","LIN2, CAGH39, FGS4","Early Infantile Epileptic Encephalopathy"]
[null,"CASR","HHC, HHC1","FHH, NSHPT, GPRC2A","Hypocalcemia Autosomal Dominant 1"]
[null,"CC2D1A","","FLJ20241, MRT3, FREUD-1, LGD2, TAPE, AKI-1","Mental Retardation Autosomal Recessive Type 3"]
[null,"CC2D2A","","KIAA1345, MKS6, JBTS9","Joubert Syndrome 9"]
[null,"CCDC88A","KIAA1212","FLJ10392, APE, GIV, HKRP1, GRDN","Peho-Like Syndrome"]
[null,"CCDC88C","KIAA1509","DAPLE, HKRP2, SCA40","Spinocerebellar Ataxia 40"]
[null,"CDC42BPB","","MRCKB, KIAA1124","Cdc42Bpb-Related Neurodevelopmental Disorder"]
[null,"CDK19","CDK11, CDC2L6","KIAA1028, BA346C16.3","Cdk19-Associated Intellectual Disability And Epileptic Encephalopathy"]
[null,"CDK9","CDC2L4","PITALRE, C-2K, TAK",""]
[null,"CDKL5","STK9","EIEE2, CFAP247","Epileptic Encephalopathy Early Infantile Type 2"]
[null,"CEP85L","C6ORF204","NY-BR-15, BA57K17.2","Lissencephaly 10"]
[null,"CERS1","LASS1","LAG1, UOG1","Epilepsy Progressive Myoclonic 8"]
[null,"CERT1","COL4A3BP","GPBP, STARD11, CERT","Intellectual Disability"]
[null,"CHD2","","FLJ38614, DKFZP547I1315, DKFZP781D1727, DKFZP686E01200","Epileptic Encephalopathy"]
[null,"CHD5","","",""]
[null,"CHRNA2","","","Chrna2-Related Nocturnal Frontal Lobe Epilepsy Autosomal Dominant"]
[null,"CHRNA4","EBN, EBN1","BFNC","Nocturnal Frontal Lobe Epilepsy Type 1"]
[null,"CHRNB2","","","Chrnb2-Related Nocturnal Frontal Lobe Epilepsy Autosomal Dominant"]
[null,"CIC","","KIAA0306","Autosomal Dominant Non-Syndromic Intellectual Disability"]
[null,"CILK1","ICK","MRK, LCK2, KIAA0936, MGC46090","Epilepsy Juvenile Myoclonic Susceptibility To 10"]
[null,"CLCN2","","CLC2, EJM6, CLC-2","Leukoencephalopathy With Ataxia"]
[null,"CLCN4","","CLC4, CLC-4","Infantile Epileptic Encephalopathy And/Or Intellectual Disability"]
[null,"CLN3","BTS","JNCL, BTN1","Neuronal Ceroid Lipofuscinosis Type 3"]
[null,"CLN5","","","Neuronal Ceroid Lipofuscinosis Type 5"]
[null,"CLN6","","FLJ20561, HST18960, NCLF","Ceroid Lipofuscinosis Neuronal 6"]
[null,"CLN8","EPMR, C8ORF61","FLJ39417, TLCD6","Neuronal Ceroid Lipofuscinosis Type 8"]
[null,"CLPB","","HSP78, SKD3, FLJ13152, ANKCLB","3-Methylglutaconic Aciduria Type Vii With Cataracts Neurologic Involvement And Neutropenia"]
[null,"CLTC","CLTCL2","HC","Epilepsy And Intellectual Disability"]
[null,"CNKSR2","","KIAA0902, CNK2, KSR2","Intellectual Disability With Epilepsy"]
[null,"CNNM2","ACDP2","","Cnnm2-Related Neurodevelopmental Disorder With Hypomagnesemia"]
[null,"CNPY3","TNRC5","CAG4A","Early Onset Epileptic Encephalopathy"]
[null,"CNTNAP2","","CASPR2, KIAA0868, NRXN4","Cortical Dysplasia-Focal Epilepsy Syndrome"]
[null,"COA7","C1ORF163, SELRC1","FLJ12439, RESA1","Spinocerebellar Ataxia Autosomal Recessive With Axonal Neuropathy 3"]
[null,"COA8","C14ORF153, APOPT1","MGC2562, APOP-1","Mitochondrial Complex Iv Deficiency"]
[null,"COG4","","COD1, DKFZP586E1519","Congenital Disorder Of Glycosylation Type Iij"]
[null,"COG6","","COD2, KIAA1134","Shaheen Syndrome"]
[null,"COG7","","","Congenital Disorder Of Glycosylation Type Iie"]
[null,"COG8","","FLJ22315, DOR1","Congenital Disorder Of Glycosylation Type Iih"]
[null,"COL18A1","KNO","KS, KNO1","Knobloch Syndrome Type I"]
[null,"COL4A1","","","Porencephaly 1"]
[null,"COL4A2","","FLJ22259, DKFZP686I14213","Porencephaly 2"]
[null,"COQ2","","CL640, FLJ26072","Coenzyme Q10 Deficiency"]
[null,"COQ4","","CGI-92","Coenzyme Q10 Deficiency Primary 7"]
[null,"COQ6","","CGI-10","Coenzyme Q10 Deficiency Primary 6"]
[null,"COQ9","C16ORF49","DKFZP434K046","Coenzyme Q10 Deficiency"]
[null,"COX10","","","Leigh Syndrome"]
[null,"COX15","","CEMCOX2","Cox15-Related Leigh Syndrome"]
[null,"COX6B1","COX6B","COXG","Mitochondrial Complex Iv Deficiency"]
[null,"CPA6","","CPAH","Febrile Seizures Familial 11"]
[null,"CPLX1","","CPX-I","Wolf-Hirschhorn Syndrome"]
[null,"CPT2","CPT1","CPTASE","Carnitine Palmitoyltransferase Ii Deficiency Lethal Neonatal"]
[null,"CREBBP","RSTS","RTS, CBP, KAT3A","Rubinstein-Taybi Syndrome Type 1"]
[null,"CRPPA","ISPD","HCG_1745121, ISPD, NIP","Walker-Warburg Syndrome"]
[null,"CSF1R","FMS","C-FMS, CSFR, CD115","Brain Abnormalities Neurodegeneration And Dysosteosclerosis"]
[null,"CSNK2B","","CKB1, CKB2","Csnk2B-Related Developmental Disorder Monoallelic"]
[null,"CSTB","EPM1, STFB","CST6, PME","Unverricht-Lundborg Disease"]
[null,"CTC1","C17ORF68","FLJ22170, AAF132","Cerebroretinal Microangiopathy With Calcifications And Cysts"]
[null,"CTNNA2","","CAP-R, CT114","Disordered Cortical Neuronal Migration"]
[null,"CTSD","CPSD","CLN10","Neuronal Ceroid Lipofuscinosis Type 10"]
[null,"CTSF","","CATSF, CLN13","Ceroid Lipofuscinosis Neuronal 13"]
[null,"CTU2","C16ORF84","NCS2","Microcephaly Facial Dysmorphism Renal Agenesis And Ambiguous Genitalia Syndrome"]
[null,"CUL3","","","Cul3-Related Developmental Disorder Monoallelic"]
[null,"CUL4B","","","Mental Retardation Syndromic X-Linked Cabezas Type"]
[null,"CUX2","CUTL2","KIAA0293, CDP2","Developmental Epileptic Encephalopathy"]
[null,"CYFIP2","","PIR121","Epileptic Encephalopathy Early Infantile"]
[null,"CYP27A1","CYP27","CTX, CP27","Cerebrotendinous Xanthomatosis"]
[null,"D2HGDH","","MGC25181, D2HGD, FLJ42195","D-2-Hydroxyglutaric Aciduria 1"]
[null,"DARS1","DARS","","Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity"]
[null,"DARS2","","FLJ10514, MTASPRS","Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation"]
[null,"DBT","","BCOADC-E2, BCKAD-E2, BCKDH-E2","Maple Syrup Urine Disease"]
[null,"DCX","","SCLH, DC, LISX, DBCN, XLIS","Subcortical Band Heterotopia X-Linked"]
[null,"DDC","","AADC","Aromatic L-Amino Acid Decarboxylase Deficiency"]
[null,"DDX3X","DDX3","DBX, HLP2, DDX14","Intellectual Developmental Disorder X-Linked Syndromic Snijders Blok Type"]
[null,"DEAF1","","NUDR, SPN, ZMYND5","Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures"]
[null,"DEGS1","","MLD, DES-1, DES1, FADS7, DEGS-1","Leukodystrophy Hypomyelinating 18"]
[null,"DENND5A","RAB6IP1","KIAA1091, FLJ22354, FLJ33829, FLJ43455","Epileptic Encephalopathy"]
[null,"DEPDC5","","KIAA0645, DEP.5","Familial Focal Epilepsy With Variable Foci"]
[null,"DHCR24","DCE","KIAA0018, SELADIN-1","Desmosterolosis"]
[null,"DHCR7","SLOS","","Smith-Lemli-Opitz Syndrome"]
[null,"DHDDS","","HDS, FLJ13102, DS, RP59, HCIT","Retinitis Pigmentosa 59"]
[null,"DHFR","","","Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency"]
[null,"DHPS","","MIG13","Neurodevelopmental Disorder Of Hypusination"]
[null,"DHX16","DDX16","DBP2, PRP2, PRPF2","Intellectual Disability Central Nervous System Anomalies And Seizures"]
[null,"DHX30","DDX30","KIAA0890, FLJ11214","Neurodevelopmental Disorder With Severe Motor Impairment And Absent Language"]
[null,"DIAPH1","DFNA1","HDIA1, LFHL1","Seizures Cortical Blindness And Microcephaly Syndrome"]
[null,"DLL1","","","Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures"]
[null,"DMXL2","","RC3, KIAA0856, DFNA71","Developmental And Epileptic Encephalopathy 81"]
[null,"DNAJC5","CLN4","FLJ00118, FLJ13070, DNAJC5A","Ceroid Lipofuscinosis Neuronal 4B Autosomal Dominant"]
[null,"DNAJC6","","KIAA0473, PARK19","Parkinson Disease 19A Juvenile-Onset"]
[null,"DNM1","DNM","","Epileptic Encephalopathy"]
[null,"DNM1L","","DRP1, DVLP, HDYNIV, DYMPLE, VPS1","Dnm1L-Related Developmental Disorder Monoallelic"]
[null,"DOCK7","","KIAA1771, ZIR2","Epileptic Encephalopathy Early Infantile 23"]
[null,"DOLK","TMEM15","KIAA1094, DK1","Congenital Disorders Of Glycosylation"]
[null,"DPAGT1","DPAGT2, DPAGT","GPT, D11S366, DGPT, ALG7, CDG-IJ","Congenital Disorder Of Glycosylation Type Ij"]
[null,"DPM1","","MPDS, CDGIE","Congenital Disorders Of Glycosylation"]
[null,"DPM2","","MGC21559, MGC111193","Congenital Disorder Of Glycosylation Type Iu"]
[null,"DPYD","","DPD, DHPDHASE","Dihydropyrimidine Dehydrogenase Deficiency"]
[null,"DPYS","","DHPASE","Dihydropyrimidinase Deficiency"]
[null,"DYNC1H1","DNECL, DNCL, DNCH1","DNCHC1, HL-3, P22, DHC1, CMT2O","Spinal Muscular Atrophy Lower Extremity-Predominant Ad"]
[null,"DYRK1A","DYRK1, DYRK, MNBH","","Mental Retardation Autosomal Dominant Type 7"]
[null,"EARS2","","KIAA1970, MSE1, MTGLNRS","Combined Oxidative Phosphorylation Deficiency 12"]
[null,"ECHS1","","SCEH","Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency"]
[null,"ECM1","","","Lipoid Proteinosis Of Urbach And Wiethe"]
[null,"EEF1A2","STNL, STN","EEF1AL, HS1","Infantile Epileptic Encephalopathy"]
[null,"EFHC1","EJM1, EJM","FLJ10466, RIB72, POC9","Epilepsy Juvenile Absence Susceptibility To 1"]
[null,"EFTUD2","","U5-116KD, SNRP116, SNU114, SNRNP116","Mandibulofacial Dysostosis With Microcephaly"]
[null,"EHMT1","EHMT1-IT1","EU-HMTASE1, FLJ12879, KIAA1876, BA188C12.1, KMT1D, FLJ40292","Kleefstra Syndrome"]
[null,"EIF2AK2","PRKR","PKR, EIF2AK1, PPP1R83","Eif2Ak2-Associated Developmental Delay Leukoencephalopathy And Neurologic Decompensation"]
[null,"EIF2B1","EIF2B","EIF-2BALPHA, EIF-2B, EIF2BA","Leukoencephalopathy With Vanishing White Matter"]
[null,"EIF2B2","","EIF2B, EIF-2BBETA","Leukoencephalopathy With Vanishing White Matter"]
[null,"EIF2B3","","EIF2BGAMMA, EIF-2B","Leukoencephalopathy With Vanishing White Matter"]
[null,"EIF2B4","","EIF2BDELTA, EIF-2B, DKFZP586J0119, EIF2B","Eif2B4-Related Leukoencephalopathy With Vanishing White Matter"]
[null,"EIF2B5","","EIF2BEPSILON, EIF-2B","Eif2B5-Related Leukoencephalopathy With Vanishing White Matter"]
[null,"EIF2S3","EIF2G","EIF2GAMMA, EIF2","Syndromic Id With Severe Microcephaly"]
[null,"EIF3F","EIF3S5","EIF3-EPSILON, EIF3-P47","Eif3F Related Developmental Disorder"]
[null,"EMC10","C19ORF63","INM02, HSS1, HSM1","Neurodevelopmental Disorder With Dysmorphic Facies And Variable Seizures"]
[null,"EML1","EMAPL","EMAP, HUEMAP, ELP79","Band Heterotopia"]
[null,"EMX2","","","Familial Schizencephaly Emx2-Related"]
[null,"EPG5","KIAA1632","HEPG5","Immunodeficiency With Cleft Lip/Palate Cataract Hypopigmentation And Absent Corpus Callosum"]
[null,"EPM2A","","LDE, LD","Myoclonic Epilepsy Of Lafora"]
[null,"EPRS1","QPRS, QARS, EPRS","EARS, PARS, GLUPRORS","Hypomyelinating Leukodystrophy"]
[null,"ETFA","","GA2, EMA, MADD","Glutaric Aciduria Type 2A"]
[null,"ETFB","","","Glutaric Aciduria Type 2B"]
[null,"ETFDH","","ETFQO","Glutaric Aciduria Type 2C"]
[null,"ETHE1","","YF13H12, HSCO","Ethylmalonic Encephalopathy"]
[null,"EXOC7","","EXO70, KIAA1067, YJL085W, EXO70P, BLOM4","Neurodevelopmental Disorder With Seizures And Brain Atrophy"]
[null,"EXOSC3","","HRRP40P, RRP40P, RRP40, CGI-102, P10, HRRP-40","Pontocerebellar Hypoplasia Type 1"]
[null,"EXT2","","SOTV","Seizures Scoliosis And Macrocephaly/Microcephaly Syndrome"]
[null,"FA2H","FAXDC1, SPG35","FAAH, FLJ25287","Spastic Paraplegia 35 Autosomal Recessive"]
[null,"FAM126A","","DRCTNNB1A, HCC, HYCC1, HYCCIN","Leukodystrophy Hypomyelinating Type 5"]
[null,"FAM50A","","DXS9928E, XAP5, HXC-26, 9F","Intellectual Developmental Disorder X-Linked Syndromic Armfield Type"]
[null,"FAR1","MLSTD2","FLJ22728, SDR10E1","Severe Intellectual Disability Epilepsy And Cataracts"]
[null,"FARS2","FARS1","DJ236A3.1, MTPHERS","Neurometabolic Disorder Due To Fars2 Deficiency"]
[null,"FASTKD2","KIAA0971","","Combined Oxidative Phosphorylation Deficiency 44"]
[null,"FBXL4","","FBL4, FBL5","Fatal Encephalopathy Lactic Acidosis And Severe Mtdna Depletion In Muscle"]
[null,"FBXO11","","FBX11, UBR6","Variable Neurodevelopmental Disorder"]
[null,"fcsk","FUK","FLJ39408","Congenital Disorder Of Glycosylation"]
[null,"FDFT1","","SQS","Defect In Cholesterol Biosynthesis"]
[null,"FDX2","FDX1L","MGC19604","Mitochondrial Myopathy Episodic With Or Without Optic Atrophy Andreversible Leukoencephalopathy"]
[null,"FGF12","FGF12B","FHF1","Epileptic Encephalopathy"]
[null,"FGF13","LINC00889","FHF2, FGF2, FLJ30672","Fgf13-Related Neurodevelopmental Disorder X-Linked Dominant"]
[null,"FGFR3","ACH","CEK2, JTK4, CD333","Achondroplasia"]
[null,"FH","","","Fumarase Deficiency"]
[null,"FKRP","","LGMD2I, MDC1C, FKTR","Muscular Dystrophy-Dystroglycanopathy Congenital With Brain And Eye Anomalies Type A5"]
[null,"FKTN","FCMD","LGMD2M","Muscular Dystrophy-Dystroglycanopathy Limb-Girdle Type C4"]
[null,"FLNA","FLN1, FLN, OPD2, OPD1","ABP-280","Melnick-Needles Syndrome"]
[null,"FOLR1","FOLR","FRA","Neurodegeneration Due To Cerebral Folate Transport Deficiency"]
[null,"FOXG1","FKHL2, FOXG1B, FKHL4, FKH2, FKHL1, FOXG1C, FKHL3, FOXG1A","HFK2, QIN, BF1, HFK1, HFK3, HBF-3","Congenital Variant Of Rett Syndrome"]
[null,"FOXRED1","","H17","Mitochondrial Complex I Deficiency"]
[null,"FRRS1L","C9ORF4","CG-6","Epileptic Encephalopathy With Continuous Spike-And-Wave During Sleep"]
[null,"FUCA1","","","Fucosidosis"]
[null,"FUT8","","","Congenital Disorder Of Glycosylation With Defective Fucosylation"]
[null,"GABBR2","GPR51","HG20, GABABR2, GPRC3B","Epileptic Encephalopathy"]
[null,"GABRA1","","EJM5","Epileptic Encephalopathy"]
[null,"GABRA2","","","Developmental And Epileptic Encephalopathy 78"]
[null,"GABRA5","","","Developmental And Epileptic Encephalopathy 79"]
[null,"GABRB1","","","Developmental And Epileptic Encephalopathy 45"]
[null,"GABRB2","","","Epilepsy And Intellectual Disability"]
[null,"GABRB3","","","Childhood Absence Epilepsy Type 5"]
[null,"GABRG2","","","Epilepsy Generalized With Febrile Seizures Plus Type 3"]
[null,"GAD1","GAD","","Cerebral Palsy Spastic Quadriplegic Type 1"]
[null,"GALC","","","Krabbe Disease"]
[null,"GALNT2","","GALNAC-T2","Congenital Disorder Of Glycosylation Type Iit"]
[null,"GAMT","","PIG2, TP53I2","Guanidinoacetate Methyltransferase Deficiency"]
[null,"GBA","GLUC","GBA1","Gaucher Disease Perinatal Lethal"]
[null,"GCDH","","ACAD5, GCD","Glutaricacidemia Type 1"]
[null,"GCH1","GCH, DYT5, DYT14","GTPCH1, DYT5A","Autosomal Dominant Dopa-Responsive Dystonia"]
[null,"GCSH","","","Glycine Encephalopathy"]
[null,"GFAP","","FLJ45472","Alexander Disease"]
[null,"GFM1","","EFGM, GFM, EGF1, MTEF-G1","Combined Oxidative Phosphorylation Deficiency 1"]
[null,"GFM2","","EFG2, FLJ21661, EF-G2MT","Combined Oxidative Phosphorylation Deficiency 39"]
[null,"GJC2","GJA12","CX47, CX46.6, SPG44","Leukodystrophy Hypomyelinating 2"]
[null,"GLB1","ELNR1","EBP","Gm1 Gangliosidosis Type 3"]
[null,"GLDC","","GCSP, NKH","Gldc-Related Glycine Encephalopathy"]
[null,"GLI3","GCPS, PHS","PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV","Pallister-Hall Syndrome"]
[null,"GLRA1","STHE","","Hyperekplexia 1"]
[null,"GLRB","","","Hyperekplexia 2"]
[null,"GLS","","KIAA0838, GLS1","Infantile Cataract Skin Abnormalities Glutamate Excess And Impaired Intellectual Development"]
[null,"GLUD1","GLUD","GDH","Hyperinsulinism-Hyperammonemia Syndrome"]
[null,"GLUL","GLNS","","Congenital Systemic Glutamine Deficiency"]
[null,"GLYCTK","","HBEBP4, HBEBP2","D-Glyceric Aciduria"]
[null,"GM2A","","SAP-3","Gm2-Gangliosidosis Type Ab"]
[null,"GNAO1","","G-ALPHA-O","Epileptic Encephalopathy"]
[null,"GNAQ","","G-ALPHA-Q, GAQ","Sturge-Weber Syndrome"]
[null,"GNB1","","","Severe Neurodevelopmental Disability Hypotonia And Seizures"]
[null,"GNB5","","GB5","Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia"]
[null,"GNE","IBM2","UAE1","Nonaka Myopathy"]
[null,"GOLGA2","","GM130, GOLGIN-95",""]
[null,"GOSR2","","GS27, BOS1","Epilepsy Progressive Myoclonic 6"]
[null,"GOT2","","MITAAT, KATIV, KAT4, KYAT4","Malate-Aspartate Shuttle-Related Encephalopathy"]
[null,"GPAA1","","GAA1, HGAA1","Developmental Delay Epilepsy Cerebellar Atrophy And Osteopenia"]
[null,"GPHN","","KIAA1385","Molybdenum Cofactor Deficiency Complementation Group C"]
[null,"GRIA2","GLUR2","GLUA2, GLURB","Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities"]
[null,"GRIA3","GLUR3","GLUA3, GLURC, MRX94","Intellectual Developmental Disorder X-Linked Syndromic Wu Type"]
[null,"GRIA4","GLUR4","GLUA4, GLURD","Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities"]
[null,"GRIK2","GLUR6","GLUK2, MRT6","Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures"]
[null,"GRIN1","NMDAR1","GLUN1","Epileptic Encephalopathy"]
[null,"GRIN2A","NMDAR2A","GLUN2A","Epilepsy Focal With Speech Disorder And With Or Without Mental Retardation"]
[null,"GRIN2B","NMDAR2B","GLUN2B","Epileptic Encephalopathy"]
[null,"GRIN2D","NMDAR2D","GLUN2D, EB11, NR2D","Severe Epileptic Encephalopathy Treatable With Nmda Receptor Channel Blockers"]
[null,"GRN","","PCDGF, PGRN, CLN11","Frontotemporal Lobar Degeneration With Tdp43 Inclusions Grn-Related"]
[null,"GSS","","","Glutathione Synthetase Deficiency"]
[null,"GTPBP2","","","Jaberi-Elahi Syndrome"]
[null,"GTPBP3","","MSS1, THDF1, GTPBG3, MTGP1, FLJ14700","Mitochondrial Translation Defect Associated With Hypertrophic Cardiomyopathy Lactic Acidosis And Encephalopathy"]
[null,"GUF1","","FLJ13220","Developmental And Epileptic Encephalopathy 40"]
[null,"H3-3A","H3F3, H3F3A","H3.3A","Craniofacial With Neurodevelopment Disorders"]
[null,"H3-3B","H3F3B","H3.3B",""]
[null,"HACE1","","KIAA1320","Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures"]
[null,"HAX1","","HS1BP1, HCLSBP1, HAX-1","Neutropenia Severe Congenital 3 Autosomal Recessive"]
[null,"HCCS","MLS","CCHL","Microphthalmia Syndromic Type 7"]
[null,"HCFC1","HFC1, MRX3","HCF-1, HCF1, CFF, VCAF, MGC70925, PPP1R89","Cobalamin Disorder"]
[null,"HCN1","BCNG1","BCNG-1, HAC-2","Epileptic Encephalopathy Early Infantile 24"]
[null,"HCN2","BCNG2","BCNG-2, HAC-1","Generalized Epilepsy With Febrile Seizures Plus, Type 11"]
[null,"HEATR5B","","KIAA1414, DKFZP686P15184, P200, P200A",""]
[null,"HECW2","","KIAA1301, NEDL2","Neurodevelopmental Disorder With Hypotonia Seizures And Absent Language"]
[null,"HEPACAM","","FLJ25530, GLIALCAM","Megalencephalic Leukoencephalopathy With Subcortical Cysts 1"]
[null,"HERC2","","JDF2, P528, D15F37S1","Prader-Willi Syndrome"]
[null,"HEXA","","","Gm2-Gangliosidosis Type 1"]
[null,"HEXB","","","Gm2-Gangliosidosis Type 2"]
[null,"HIBCH","","","Neurodegeneration Due To 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency"]
[null,"HLCS","","HCS","Holocarboxylase Synthetase Deficiency"]
[null,"HMGCL","","HL","3-Hydroxy-3-Methylglutaryl-Coenzyme A Lyase Deficiency"]
[null,"HNRNPH2","HNRPH2","HNRNPH', FTP3, HNRPH'","Mental Retardation X-Linked Syndromic Bain Type"]
[null,"HNRNPR","HNRPR","HNRNP-R","Intellectual Disability"]
[null,"HNRNPU","HNRPU, HNRNPU-AS1, C1ORF199, NCRNA00201","SAF-A, FLJ37978, FLJ30202","Epileptic Encephalopathy"]
[null,"HOXA1","HOX1F, HOX1","","Bosley-Salih-Alorainy Syndrome"]
[null,"HPDL","GLOXD1","MGC15668, 4-HPPD-L","Hpdl Neurodegenerative Disease"]
[null,"HPRT1","HPRT","HGPRT","Lesch-Nyhan Syndrome"]
[null,"HRAS","HRAS1","","Costello Syndrome"]
[null,"HSD17B10","HADH2, MRXS10","ERAB, MHBD, 17B-HSD10, ABAD, SDR5C1, MRPP2, CAMR","2-Methyl-3-Hydroxybutyryl-Coa Dehydrogenase Deficiency"]
[null,"HSD17B4","","MFE-2, DBP, SDR8C1","D-Bifunctional Protein Deficiency"]
[null,"HSPD1","SPG13","GROEL, HSP60","Leukodystrophy Hypomyelinating Type 4"]
[null,"HTRA1","PRSS11","HTRA, IGFBP5-PROTEASE, ARMD7","Cerebral Arteriopathy Autosomal Recessive With Subcortical Infarcts And Leukoencephalopathy"]
[null,"HTRA2","PRSS25","OMI, PARK13","Early-Onset Mitochondrial Syndrome Associated With 3-Methylglutaconic Aciduria"]
[null,"HTT","HD","IT15","Lopes-Maciel-Rodan Syndrome"]
[null,"IBA57","C1ORF69","FLJ12734","Multiple Mitochondrial Dysfunctions Syndrome 3"]
[null,"IER3IP1","","","Microcephaly Epilepsy And Diabetes Syndrome"]
[null,"IFIH1","","MDA-5, HLCD, MDA5, IDDM19","Aicardi-Goutieres Syndrome 7"]
[null,"IKBKG","IP2, IP1","IKK-GAMMA, NEMO, FIP3P, FIP-3, FIP3, ZC2HC9","Ectodermal Dysplasia Anhidrotic With Immunodeficiency X-Linked"]
[null,"IQSEC2","MRX1, MRX78, MRX18","KIAA0522, BRAG1, IQ-ARFGEF","Severe Intellectual Disability-Progressive Postnatal Microcephaly- Midline Stereotypic Hand Movements Syndrome"]
[null,"IRF2BPL","C14ORF4","EAP1, KIAA1865","Neurodevelopmental Disorder With Regression Abnormal Movements Loss Of Speech And Seizures"]
[null,"ITPA","C20ORF37","HLC14-06-P, DJ794I6.3","Inosine Triphosphatase Deficiency"]
[null,"KARS1","DFNB89, KARS","KARS2","Charcot-Marie-Tooth Disease Recessive Intermediate B"]
[null,"KAT5","HTATIP","TIP60, PLIP, CPLA2, HTATIP1, ESA1, ZC2HC5","Kat5-Related Neurodevelopmental Syndrome"]
[null,"KAT8","MYST1","MOF, FLJ14040, HMOF, ZC2HC8","Li-Ghorbani-Weisz-Hubshman Syndrome"]
[null,"KATNB1","","","Katnb1- Associated Complex Cerebral Malformations"]
[null,"KCNA1","AEMK","KV1.1, RBK1, HUK1, MBK1","Early Infantile Epileptic Encephalopathy"]
[null,"KCNA2","","KV1.2, HK4","Epileptic Encephalopathy Loss-Of-Function"]
[null,"KCNB1","","KV2.1","Epileptic Encephalopathy Early Infantile 26"]
[null,"KCNC1","","KV3.1","Epilepsy Progressive Myoclonic 7"]
[null,"KCNH1","","KV10.1, EAG, H-EAG, EAG1, HEAG","Temple Barraister Syndrome"]
[null,"KCNJ10","","KIR4.1, KIR1.2","Seizures-Sensorineural Deafness-Ataxia-Mental Retardation-Electrolyte Imbalance"]
[null,"KCNJ11","","KIR6.2, BIR","Diabetes Mellitus Permanent Neonatal 2"]
[null,"KCNK4","","K2P4.1, TRAAK","Facial Dysmorphism Hypertrichosis Epilepsy Intellectual Disability/Developmental Delay And Gingival Overgrowth"]
[null,"KCNMA1","SLO","KCA1.1, MSLO1","Generalized Epilepsy And Paroxysmal Dyskinesia"]
[null,"KCNQ2","EBN, EBN1","KV7.2, ENB1, BFNC, KCNA11, HNSPC","Epileptic Encephalopathy Early Infantile Type 7"]
[null,"KCNQ3","EBN2","KV7.3","Seizures Benign Familial Neonatal 2"]
[null,"KCNQ5","","KV7.5","Intellectual Disability With Or Without Epileptic Encephalopathy"]
[null,"KCNT1","","KCA4.1, KIAA1422, SLACK, SLO2.2","Malignant Migrating Partial Seizures Of Infancy"]
[null,"KCNT2","","KCA4.2, SLICK, SLO2.1","Developmental And Infantile Epileptic Encephalopathy"]
[null,"KCTD3","","NY-REN-45",""]
[null,"KCTD7","","FLJ32069, EPM3, CLN14","Neuronal Ceroid Lipofuscinosis"]
[null,"KDM5C","SMCX, JARID1C, MRX13","DXS1272E, XE169","Mental Retardation Syndromic X-Linked Jarid1C-Related"]
[null,"KIAA1109","","FLJ21404, FSA, KIAA1371, TWEEK","Brain Atrophy Dandy Walker And Contractures"]
[null,"KIF1A","ATSV, C2ORF20, SPG30","UNC104","Nescav Syndrome"]
[null,"KIF2A","KIF2","HK2","Malformations Of Cortical Development And Microcephaly."]
[null,"KIF5A","SPG10","D12S1889, NKHC, MY050","Spastic Paraplegia 10 Autosomal Dominant"]
[null,"KIF5C","","","Cortical Dysplasia Complex With Other Brain Malformations 2"]
[null,"KIFBP","KIAA1279, KIF1BP","DKFZP586B0923, TTC20, KBP","Goldberg-Shprintzen Megacolon Syndrome"]
[null,"KMT2E","MLL5","HDCMC04P","Non-Specific Syndromic Intellectual Disability"]
[null,"KPTN","","2E4, KICS4","Macrocephaly Neurodevelopmental Delay And Seizures"]
[null,"KRAS","KRAS2","KRAS1, K-RAS4B","Noonan Syndrome Type 3"]
[null,"L2HGDH","C14ORF160","FLJ12618","L-2-Hydroxyglutaric Aciduria"]
[null,"LARGE1","LARGE","KIAA0609","Muscular Dystrophy-Dystroglycanopathy Congenital With Brain And Eye Anomalies Type A 1"]
[null,"LARS1","LARS","HSPC192, FLJ10595, FLJ21788, LEUS, RNTLS","Acute Infantile Liver Failure-Multisystemic Involvement Syndrome"]
[null,"LGI1","EPT","IB1099, ETL1, EPITEMPIN","Autosomal Dominant Partial Epilepsy With Auditory Features"]
[null,"LIAS","","LAS","Neonatal-Onset Epilepsy Defective Mitochondrial Energy Metabolism And Glycine Elevation"]
[null,"LIPT1","","MGC12290, MGC13378","Leigh Syndrome With Secondary Deficiency For Pyruvate And Alpha-Ketoglutarate Dehydrogenase."]
[null,"LIPT2","","","Mitochondrial Lipoylation Defect Associated With Severe Neonatal Encephalopathy"]
[null,"LMAN2L","","DKFZP564L2423, VIPL","Mental Retardation Autosomal Recessive 52"]
[null,"LMBRD2","","DKFZP434H2226",""]
[null,"LMNB1","","","Lmnb1-Associated Developmental Disorder"]
[null,"LMNB2","LMN2","","Lmnb2-Related Primary Microcephaly"]
[null,"LNPK","KIAA1715","UL, LNP1, LNP","Recessive Neurodevelopmental Syndrome"]
[null,"LRPPRC","LSFC","GP130, LRP130","Leigh Syndrome French Canadian Type"]
[null,"LSS","","OSC","Alopecia-Mental Retardation Syndrome 4"]
[null,"LYRM7","C5ORF31","FLJ20796, MZM1L","Mitochondrial Complex Iii Deficiency Nuclear Type 8"]
[null,"LYST","CHS1","CHS, MAUVE","Chediak-Higashi Syndrome"]
[null,"MACF1","","KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776, LNC-PMIF","Defects In Neuronal Migration And Axon Guidance"]
[null,"MADD","","DENN, KIAA0358, RAB3GEP","Madd-Related Developmental Disorder"]
[null,"MAF","","C-MAF","Ayme-Gripp Syndrome"]
[null,"MAGI2","","AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2","Early Onset Epileptic Encephalopathy"]
[null,"MANBA","","","Lysosomal Beta-Mannosidosis"]
[null,"MAP2K1","PRKMK1","MEK1, MAPKK1","Cardiofaciocutaneous Syndrome"]
[null,"MAP2K2","PRKMK2","MEK2","Cardiofaciocutaneous Syndrome"]
[null,"MARS2","","MTMETRS, SPAX3","Combined Oxidative Phosphorylation Deficiency 25"]
[null,"MAST1","","SAST, KIAA0973","Mast1-Related Developmental Disorder Monoallelic"]
[null,"MBD5","","FLJ11113, KIAA1461","Ehmt1-Like Intellectual Disability"]
[null,"MBOAT7","LENG4","BB1, HMBOA-7, LPLAT","Intellectual Disability Accompanied By Epilepsy And Autistic Features"]
[null,"MDH2","","","Early-Onset Severe Encephalopathy"]
[null,"MECP2","RTT, MRX16, MRX79","","Encephalopathy Neonatal Severe Due To Mecp2 Mutations"]
[null,"MED12","TNRC11, FGS1","CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS, ARC240, KTO","Opitz-Kaveggia Syndrome"]
[null,"MED17","CRSP6","CRSP77, TRAP80, DRIP80, SRB4","Microcephaly Postnatal Progressive With Seizures And Brain Atrophy"]
[null,"MED27","CRSP8","TRAP37, CRSP34, MED3","Med27-Related Neurodevelopmental Disorder"]
[null,"MEF2C","","","Mental Retardation-Stereotypic Movements-Epilepsy And/Or Cerebral Malformations"]
[null,"MFF","C2ORF33","GL004","Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 2"]
[null,"MFSD8","CLN7","MGC33302","Mfsd8-Related Neuronal Ceroid-Lipofuscinosis"]
[null,"MINPP1","","MIPP","Pontocerebellar Hypoplasia, Type 16"]
[null,"MIPEP","","MIP","Combined Oxidative Phosphorylation Deficiency 31"]
[null,"MLC1","","MLC, KIAA0027, LVM, VL","Leukoencephalopathy Megalencephalic With Subcortical Cysts"]
[null,"MMACHC","","DKFZP564I122, CBLC","Methylmalonic Aciduria And Homocystinuria Cblc Type"]
[null,"MMADHC","C2ORF25","CL25022, CBLD","Methylmalonic Aciduria And Homocystinuria Type Cbld"]
[null,"MOCS1","","MOCOD","Molybdenum Cofactor Deficiency"]
[null,"MOCS2","","MOCO1, MOCS2A, MOCS2B","Molybdenum Cofactor Deficiency"]
[null,"MOGS","","GCS1, CWH41, DER7","Congenital Disorders Of Glycosylation"]
[null,"MPDU1","","SL15, LEC35, PQLC5, CDGIF, SLC66A5","Congenital Disorders Of Glycosylation"]
[null,"MRPL44","","FLJ12701, FLJ13990","Combined Oxidative Phosphorylation Deficiency 16"]
[null,"MTHFR","","","Methylenetetrahydrofolate Reductase Deficiency"]
[null,"MTHFS","","HST19268","Neurodevelopmental Disorder With Microcephaly Epilepsy And Hypomyelination"]
[null,"MTOR","FRAP, FRAP2, FRAP1","RAFT1, RAPT1, FLJ44809","Smith-Kingsmore Syndrome"]
[null,"MTR","","CBLG","Methylcobalamin Deficiency Type G"]
[null,"NACC1","BTBD14B","NAC1, NAC-1, BEND8, BTBD30","Infantile Epilepsy Cataracts And Profound Developmental Delay"]
[null,"NAGA","","D22S674","Kanzaki Disease"]
[null,"NARS1","NARS","","Nars1 Neurodevelopmental Disorder Monoallelic"]
[null,"NARS2","DFNB94","FLJ23441, SLM5","Combined Oxidative Phosphorylation Deficiency 24"]
[null,"NBEA","","KIAA1544, BCL8B, FLJ10197, LYST2","Nbea Neurodevelopment Disorder With Seizures"]
[null,"NCDN","","NCDN-1, NCDN-2","Neurodevelopmental Disorder With Infantile Epileptic Spasms"]
[null,"NDE1","","NUDE, FLJ20101, NDE","Lissencephaly 4"]
[null,"NDP","EVR2","NORRIN","Norrie Disease"]
[null,"NDST1","HSST","NST1","Autosomal Recessive Mental Retardation"]
[null,"NDUFA1","","MWFE, CI-MWFE","Mitochondrial Respiratory Chain Complex I Deficiency"]
[null,"NDUFA10","","CI-42K","Leigh Syndrome With Leukodystrophy"]
[null,"NDUFA2","","B8","Mitochondrial Complex I Deficiency Nuclear Type 13"]
[null,"NDUFAF2","NDUFA12L","B17.2L, MMTN, MIMITIN","Leigh Syndrome"]
[null,"NDUFAF3","C3ORF60","MGC10527, DKFZP564J0123, E3-3, 2P1","Mitochondrial Complex I Deficiency Nuclear Type 18"]
[null,"NDUFAF4","C6ORF66","HSPC125, BA22L21.1, MY013, HRPAP20","Mitochondrial Complex I Deficiency Nuclear Type 15"]
[null,"NDUFAF5","C20ORF7","DJ842G6.1","Mitochondrial Complex I Deficiency Nuclear Type 16"]
[null,"NDUFAF6","C8ORF38","MGC40214","Mitochondrial Complex I Deficiency Nuclear Type 17"]
[null,"NDUFS1","","CI-75K","Mitochondrial Respiratory Chain Complex I Deficiency"]
[null,"NDUFS2","","CI-49","Mitochondrial Complex I Deficiency Nuclear Type 6"]
[null,"NDUFS4","","AQDQ, CI-18","Leigh Syndrome"]
[null,"NDUFS6","","CI-13KA","Mitochondrial Complex I Deficiency Nuclear Type 9"]
[null,"NDUFS7","","PSST, FLJ46880, FLJ45860, CI-20","Mitochondrial Respiratory Chain Complex I Deficiency"]
[null,"NDUFS8","","TYKY, CI-23K","Mitochondrial Respiratory Chain Complex I Deficiency"]
[null,"NDUFV1","","CI-51K","Mitochondrial Complex I Deficiency"]
[null,"NECAP1","","DKFZP566B183","Developmental And Epileptic Encephalopathy 21"]
[null,"NEDD4L","","KIAA0439, RSP5, NEDD4-2","Periventricular Nodular Heterotopia With Id Cleft Palate And 2.3 Toe Syndactyly"]
[null,"NEU1","NEU","","Sialidosis"]
[null,"NEUROD2","","NDRF, BHLHA1","Developmental And Epileptic Encephalopathy 72"]
[null,"NEXMIF","KIAA2022","XPN, MRX98, KIDLIA","Intellectual Disability And Epilepsy"]
[null,"NFU1","HIRIP5","CGI-33, NIFU, NIFUC","Multiple Mitochondrial Dysfunctions Syndrome 1"]
[null,"NGLY1","","FLJ11005, PNG1, PNG-1","Congenital Disorder Of Deglycosylation"]
[null,"NHLRC1","","BA204B7.2, EPM2B","Myoclonic Epilepsy Of Lafora"]
[null,"NKX6-2","","NKX6B, GTX, NKX6.1","Progressive Spastic Ataxia And Hypomyelination"]
[null,"NOTCH3","CADASIL","CASIL","Cerebral Arteriopathy Autosomal Dominant With Subcortical Infarcts And Leukoencephalopathy Type 1"]
[null,"NPRL2","TUSC4","NPR2L, NPR2","Epilepsy Familial Focal With Variable Foci 2"]
[null,"NPRL3","C16ORF35","CGTHBA, RMD11, NPR3, MARE, HS-40","Epilepsy Familial Focal With Variable Foci 3"]
[null,"NR2F1","ERBAL3, TFCOUP1","EAR-3, COUP-TFI, TCFCOUP1, SVP44, COUPTF1","Bosch-Boonstra Optic Atrophy Syndrome"]
[null,"NR4A2","NURR1","TINUR, NOT, RNR1, HZF-3","Nr4A2-Related Developmental Disorder Monoallelic"]
[null,"NRROS","LRRC33","UNQ3030, ELLP3030, MGC50789, GARPL1","Nrros-Related Infantile-Onset Neurodegeneration With Intracranial Calcification"]
[null,"NRXN1","","KIAA0578, HS.22998","Pitt Hopkins 2"]
[null,"NSD1","STO","ARA267, FLJ22263, KMT3B","Sotos Syndrome"]
[null,"NSDHL","","XAP104, H105E3, SDR31E1","Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects"]
[null,"NSF","","SKD2, SEC18",""]
[null,"NT5C2","NT5B, SPG45","PNT5, GMP, CN-II, SPG65","Spastic Paraplegia 45 Autosomal Recessive"]
[null,"NTRK2","","TRKB","Epilepsy And Intellectual Disability"]
[null,"NUBPL","C14ORF127","FLJ12660, IND1, HUIND1","Mitochondrial Complex I Deficiency"]
[null,"NUS1","C6ORF68","MGC7199, NGBR, TANGO14","Epilepsy And Intellectual Disability"]
[null,"OCLN","","PPP1R115","Ocln-Associated Band-Like Calcification With Simplified Gyration And Polymicrogyria"]
[null,"OFD1","CXORF5, RP23","71-7A, JBTS10","Joubert Syndrome Type 10"]
[null,"OPHN1","MRX60","OPN1, ARHGAP41","Mental Retardation X-Linked Ophn1-Related"]
[null,"OTUD6B","","CGI-77, DUBA5","Intellectual Disability Syndrome Associated With Seizures And Dysmorphic Features"]
[null,"OTX2","","","Microphthalmia Syndromic Type 5"]
[null,"OXR1","","TLDC3","Autosomal-Recessive Neurological Disease With Cerebellar Atrophy And Lysosomal Dysfunction"]
[null,"P4HTM","","P4H-TM, PHD4, PH4, HIFPH4, FLJ20262, EGLN4, PH-4","Hypotonia Hypoventilation Impaired Intellectual Development Dysautonomia Epilepsy And Eye Abnormalities"]
[null,"PACS1","","FLJ10209, KIAA1175","Schuurs-Hoeijmakers Syndrome"]
[null,"PACS2","PACS1L","KIAA0602","Developmental And Epileptic Encephalopathy 66"]
[null,"PAFAH1B1","MDCR, MDS","LIS1, PAFAH, NUDF","Lissencephaly Type 1"]
[null,"PAH","","PH","Non-Phenylketonuria Hyperphenylalaninemia"]
[null,"PAK1","","","Intellectual Developmental Disorder With Macrocephaly Seizures And Speech Delay"]
[null,"PARS2","","DKFZP727A071","Developmental And Epileptic Encephalopathy 75"]
[null,"PCCA","","","Propionic Acidemia"]
[null,"PCCB","","","Propionic Acidemia"]
[null,"PCDH12","","VE-CADHERIN-2","Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1"]
[null,"PCDH19","EFMR","KIAA1313, EIEE9","Epileptic Encephalopathy Early Infantile Type 9"]
[null,"PCDHGC4","","PCDH-GAMMA-C4",""]
[null,"PCLO","","KIAA0559, DKFZP779G1236, ACZ","Pontocerebellar Hypoplasia Type 3"]
[null,"PCYT2","","ET","Complex Hereditary Spastic Paraplegia"]
[null,"PDHA1","PDHA","","Pyruvate Dehydrogenase E1-Alpha Deficiency"]
[null,"PDHX","","E3BP, PROX, PDX1, OPDX, DLDBP","Lacticacidemia Due To Pdx1 Deficiency"]
[null,"PDSS2","C6ORF210","BA59I9.3, COQ1B","Coenzyme Q10 Deficiency Primary 3"]
[null,"PET100","C19ORF79","","Mitochondrial Complex Iv Deficiency"]
[null,"PEX1","ZWS1, ZWS","","Peroxisome Biogenesis Disorder Complementation Group 1"]
[null,"PEX10","","RNF69","Peroxisome Biogenesis Disorder Complementation Group 7"]
[null,"PEX12","","","Peroxisome Biogenesis Disorder Complementation Group 3"]
[null,"PEX13","","","Peroxisome Biogenesis Disorder Complementation Group 13"]
[null,"PEX14","","","Peroxisome Biogenesis Disorder Complementation Group K"]
[null,"PEX16","","","Peroxisome Biogenesis Disorder Complementation Group 9"]
[null,"PEX19","PXF","HK33, D1S2223E, PMP1, PMPI, PXMP1","Zellweger Syndrome"]
[null,"PEX2","PXMP3","PMP35, PAF-1, RNF72, ZWS3","Peroxisome Biogenesis Disorder Complementation Group 5"]
[null,"PEX26","","FLJ20695","Zellweger Syndrome"]
[null,"PEX3","","","Peroxisome Biogenesis Disorder Complementation Group 12"]
[null,"PEX5","PXR1","PTS1R","Zellweger Syndrome"]
[null,"PEX6","","PXAAA1, PAF-2","Peroxisome Biogenesis Disorder Complementation Group 4"]
[null,"PEX7","","PTS2R, RD","Peroxisome Biogenesis Disorder Complementation Group 11"]
[null,"PGK1","","","Phosphoglycerate Kinase 1 Deficiency"]
[null,"PGM2L1","","FLJ32029, BM32A",""]
[null,"PHACTR1","RPEL1","KIAA1733, DJ257A7.2","Phactr1-Associated Neurodevelopment Disorder"]
[null,"PHF6","BFLS, BORJ","KIAA1823, MGC14797, CENP-31","Boerjeson-Forssman-Lehmann Syndrome"]
[null,"PHGDH","","SERA, PGDH, PDG","Phosphoglycerate Dehydrogenase Deficiency"]
[null,"PIGA","","GPI3","Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2"]
[null,"PIGB","","","Inherited Gpi Biosynthesis Defect With An Axonal Neuropathy And Metabolic Abnormality"]
[null,"PIGC","","","Glycosylphosphatidylinositol Biosynthesis Defect 16"]
[null,"PIGG","","FLJ20265, GPI7, LAS21","Intellectual Disability With Seizures And Hypotonia"]
[null,"PIGH","","GPI-H","Glycosylphosphatidylinositol Biosynthesis Defect 17"]
[null,"PIGK","","HGPI8, GPI8","Pigk-Associated Neurodevelopmental Syndrome"]
[null,"PIGN","","MCD4, PIG-N","Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome"]
[null,"PIGO","","DKFZP434M222, FLJ00135","Hyperphosphatasia With Mental Retardation Syndrome 2"]
[null,"PIGP","DSCR5","DCRC, DSRC","Developmental And Epileptic Encephalopathy 55"]
[null,"PIGQ","","HGPI1, GPI1","Severe Early-Onset Epilepsy"]
[null,"PIGS","","","Neurological Syndrome Fetal Akinesia /Epileptic Encephalopathy"]
[null,"PIGT","","","Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3"]
[null,"PIGU","CDC91L1","BA346K17.2, GAB1","Intellectual Disability Central Nervous System Anomalies And Scoliosis"]
[null,"PIGV","","FLJ20477","Hyperphosphatasia With Mental Retardation"]
[null,"PIGW","","GWT1, FLJ37433","Hyperphosphatasia With Mental Retardation Syndrome 5"]
[null,"PIK3R2","","P85B, P85","Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1"]
[null,"PITRM1","","MP1, KIAA1104, HMP1, PREP","Spinocerebellar Ataxia Autosomal Recessive 30"]
[null,"PLA2G6","","IPLA2, PNPLA9, PARK14, IPLA2BETA, NBIA2","Infantile Neuroaxonal Dystrophy 1"]
[null,"PLAA","","PLAP, PLA2P, FLJ11281, FLJ12699, DOA1","Lethal Infantile Epileptic Encephalopathy"]
[null,"PLCB1","","KIAA0581, PLC-I, PLC154","Epileptic Encephalopathy Early Infantile 12"]
[null,"PLP1","SPG2, PLP","GPM6C","Spastic Paraplegia X-Linked Type 2"]
[null,"PLPBP","PROSC","","Vitamin-B6-Dependent Epilepsy"]
[null,"PMM2","CDG1","CDGS, CDG1A, PMI, PMI1","Congenital Disorders Of Glycosylation"]
[null,"PMPCB","","MPPB, MPPP52, MAS1, BETA-MPP","Neurodegeneration In Early Childhood"]
[null,"PNKP","","PNK","Ataxia-Oculomotor Apraxia 4"]
[null,"PNPO","","PDXPO","Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency"]
[null,"PNPT1","DFNB70","PNPASE, OLD35, OLD-35","Combined Oxidative Phosphorylation Deficiency 13"]
[null,"POLG","","POLG1, POLGA","Mitochondrial Dna Depletion Syndrome 4A"]
[null,"POLG2","","MTPOLB, HP55","Progressive External Ophthalmoplegia With Mitochondrial Dna Deletionsautosomal Dominant 4"]
[null,"POLR3A","","RPC1, RPC155, HRPC155, C160","Autosomal Recessive Wiedemann Rautenstrauch Syndrome"]
[null,"POLR3B","","RPC2, FLJ10388, C128","Hypomyelination-Hypogonadotropic Hypogonadism-Hypodontia Syndrome"]
[null,"POMGNT1","MEB","FLJ20277, MGAT1.2, LGMD2O","Muscular Dystrophy-Dystroglycanopathy Limb-Girdle Type C3"]
[null,"POMT1","","LGMD2K","Muscular Dystrophy-Dystroglycanopathy Congenital With Brain And Eye Anomalies Type A1"]
[null,"POMT2","","LGMD2N","Muscular Dystrophy-Dystroglycanopathy Congenital With Brain And Eye Anomalies Type A2"]
[null,"PPIL1","","CYPL1","Ppil1-Related Neurodegenerative Pontocerebellar Hypoplasia With Microcephaly"]
[null,"PPP2CA","","PP2CALPHA, PP2AC","Syndromic Intellectual Disability Resembling Other Pp2A Related Neurodevelopmental Disorders"]
[null,"PPP3CA","CALN, CALNA","CNA1, PPP2B","Severe Neurodevelopmental Disease With Seizures"]
[null,"PPT1","PPT","CLN1, INCL","Neuronal Ceroid Lipofuscinosis Type 1"]
[null,"PRICKLE1","","FLJ31937, EPM1B, RILP","Epilepsy Progressive Myoclonic 1B"]
[null,"PRICKLE2","","DKFZP686D143","Progressive Myoclonic Epilepsy Type 5"]
[null,"PRIMA1","","PRIMA",""]
[null,"PRMT7","","FLJ10640, KIAA1933","Pseudohypoparathyroidism-Like Disorder"]
[null,"PRODH","","HSPOX2, PRODH1, PIG6, PRODH2, TP53I6","Hyperprolinemia Type I"]
[null,"PRRT2","ICCA, DYT10","FLJ25513, DKFZP547J199, IFITMD1, FICCA, DSPB3, PKC, EKD1","Benign Familial Infantile Epilepsy And Infantile Convulsions With Choreoathetosis Syndrome"]
[null,"PRUNE1","PRUNE","DRES-17, HTCD37, H-PRUNE","Peho Like Condition"]
[null,"PSAP","SAP1, GLBA, SAP2","","Atypical Krabbe Disease"]
[null,"PSAT1","","PSA, PSAT","Neu-Laxova Syndrome"]
[null,"PSPH","PSP","","Neu-Laxova"]
[null,"PTF1A","","PTF1-P48, BHLHA29, P48","Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome"]
[null,"PTPN23","","DKFZP564F0923, KIAA1471, HD-PTP","Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity"]
[null,"PTS","","PTPS","6-Pyruvoyltetrahydropterin Synthase Deficiency"]
[null,"PUM1","","PUMH1, KIAA0099","Spinocerebellar Ataxia 47"]
[null,"PURA","","PURALPHA, PUR1, PUR-ALPHA","Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation"]
[null,"PYCR2","","P5CR2","Postnatal Microcephaly Hypomyelination And Reduced Cerebral White-Matter Volume"]
[null,"QARS1","QARS","","Microcephaly Progressive Seizures And Cerebral And Cerebellar Atrophy"]
[null,"QDPR","","DHPR, PKU2, SDR33C1","Bh4-Deficient Hyperphenylalaninemia C"]
[null,"RAB11A","","YL8","Epilepsy And Intellectual Disability"]
[null,"RAB11B","","H-YPT3","Neurodevelopmental Disorder With Ataxic Gait Absent Speech And Decreased Cortical White Matter"]
[null,"RAB18","","","Warburg Micro Syndrome Type 3"]
[null,"RAB39B","MRX72, WSN","","Mental Retardation X-Linked Type 72 (Mrx72) +/- Parkinsons"]
[null,"RAB3GAP1","","RAB3GAP, KIAA0066, RAB3GAP130, WARBM1","Warburg Micro Syndrome Type 1"]
[null,"RAB3GAP2","","RAB3-GAP150, KIAA0839, DKFZP434D245, SPG69","Martsolf Syndrome"]
[null,"RALA","RAL","","Hiatt-Neu-Cooper Neurodevelopmental Syndrome"]
[null,"RALGAPA1","GARNL1","GRIPE, DKFZP667F074, KIAA0884, TULIP1, RALGAPALPHA1","Ralgapa1-Related Neurodevelopmental Disorder"]
[null,"RANBP2","ANE1","NUP358, ADANE","Acute Necrotizing Encephalopathy 1 Susceptibility To"]
[null,"RARS1","RARS","DALRD1","Rars1 Related Hypomyelinating Leukodystrophy"]
[null,"RARS2","RARSL","MGC14993, MGC23778, PRO1992, DJ382I10.6, DALRD2","Pontocerebellar Hypoplasia Type 6"]
[null,"RELN","","RL, PRO1598","Lissencephaly 2"]
[null,"RFT1","","CDG1N","Congenital Disorder Of Glycosylation Type 1N"]
[null,"RHOBTB2","","KIAA0717, DBC2","Developmental And Epileptic Encephalopathy"]
[null,"RMND1","C6ORF96","BA351K16.3, FLJ20627, RMD1","Encephalopathy Associated With Multiple Oxidative Phosphorylation Complex Deficiencies And A Mitochondrial Translation Defect"]
[null,"RNASEH2A","","RNASEHI, RNHIA, RNHL, AGS4","Aicardi-Goutieres Syndrome 4"]
[null,"RNASEH2B","DLEU8, AGS2","FLJ11712","Aicardi-Goutieres Syndrome 2"]
[null,"RNASEH2C","","AYP1, AGS3","Aicardi-Goutieres Syndrome 3"]
[null,"RNASET2","","RNASE6PL, FLJ10907, BA514O12.3","Leukoencephalopathy Cystic Without Megalencephaly"]
[null,"RNF113A","ZNF183","RNF113, CWC24","X-Linked Trichothiodystrophy"]
[null,"RNF13","","RZF","Congenital Microcephaly Epileptic Encephalopathy Blindness And Failure To Thrive"]
[null,"RNF2","","BAP-1, BAP1, DING, HIPI3, RING1B, RING2","Luo-Schoch-Yamamoto Syndrome"]
[null,"RNF216","","TRIAD3, UBCE7IP1, ZIN","Gordon Holmes Syndrome"]
[null,"RNU4ATAC","","RNU4ATAC1, U4ATAC","Microcephalic Osteodysplastic Primordial Dwarfism Type I"]
[null,"ROGDI","","FLJ22386","Kohlschutter-Tonz Syndrome"]
[null,"RORA","","RZRA, ROR1, ROR2, ROR3, NR1F1","Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia"]
[null,"RORB","","RZRB, NR1F2, ROR-BETA","Epilepsy Idiopathic Generalized Susceptibility To 15"]
[null,"RPIA","","","Ribose 5-Phosphate Isomerase Deficiency"]
[null,"RRM2B","","P53R2","Mitochondrial Depletion Syndrome"]
[null,"RTN4IP1","","NIMP","Early-Onset Recessive Optic Neuropathy"]
[null,"RTTN","","DKFZP434G145","Bilateral Diffuse Polymicrogyria"]
[null,"RUSC2","","KIAA0375","Mental Retardation Autosomal Recessive 61"]
[null,"RYR2","ARVD2","ARVC2, VTSIP","Ventricular Tachycardia Catecholaminergic Polymorphic 1 With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy"]
[null,"SAMHD1","","SBBI88, MG11, HDDC1, MOP-5, AGS5","Aicardi-Goutieres Syndrome"]
[null,"SATB1","","","Satb1-Related Developmental Disorder Monoallelic"]
[null,"SCAF4","SFRS15","KIAA1172, DKFZP434E098, SRA4","Scaf4-Related Neurodevelopmental Disorder"]
[null,"SCAMP5","","MGC24969",""]
[null,"SCARB2","CD36L2","HLGP85, LIMPII, SR-BII, LIMP-2","Epilepsy Progressive Myoclonic 4 With Or Without Renal Failure"]
[null,"SCN1A","SCN1, FEB3","NAV1.1, GEFSP2, HBSCI, NAC1, SMEI","Scn1A-Related Seizure Disorders"]
[null,"SCN1B","","","Brugada Syndrome 5"]
[null,"SCN2A","SCN2A1, SCN2A2","NAV1.2, HBSCII, HBSCI","Infantile Epileptic Encephalopathy"]
[null,"SCN3A","","NAV1.3","Focal Epilepsy"]
[null,"SCN8A","MED","NAV1.6, NACH6, PN4, CERIII, CIAT","Epileptic Encephalopathy Early Infantile 13"]
[null,"SCN9A","","NAV1.7, PN1, NE-NA, NENA, ETHA","Generalized Epilepsy With Febrile Seizures Plus Type 7"]
[null,"SCO1","SCOD1","","Mitochondrial Complex Iv Deficiency"]
[null,"SCO2","MYP6","SCO1L","Mitochondrial Complex Iv Deficiency Nuclear Type 2"]
[null,"SDHA","SDH2","FP, SDHF","Leigh Syndrome"]
[null,"SDHAF1","","LYRM8","Mitochondrial Complex Ii Deficiency"]
[null,"SEMA6B","SEMAN","SEMAZ, SEMA-VIB, SEM-SEMA-Y","Epilepsy Progressive Myoclonic 11"]
[null,"SEPSECS","","SLA/LP, SLA","Pontocerebellar Hypoplasia Type 2D"]
[null,"SERAC1","","FLJ14917","3-Methylglutaconic Aciduria With Deafness Encephalopathy And Leigh-Like Syndrome"]
[null,"SERPINI1","PI12","","Encephalopathy Familial With Neuroserpin Inclusion Bodies"]
[null,"SETBP1","","SEB, KIAA0437","Schinzel-Giedion Midface Retraction Syndrome"]
[null,"SETD1A","","KIAA0339, SET1, KMT2F, SET1A","Epilepsy Early-Onset With Or Without Developmental Delay"]
[null,"SETD1B","","KIAA1076, SET1B, KMT2G","Setd1B Associated Intellectual Disability Epilepsy And Autism"]
[null,"SETD5","","FLJ10707","Cornelia De Lange Syndrome"]
[null,"SGSH","","HSS, MPS3A, SFMD","Mucopolysaccharidosis Type 3A"]
[null,"SHANK3","","SPANK-2, PROSAP2, KIAA1650, PSAP2","Phelan-Mcdermid Syndrome"]
[null,"SIK1","SNF1LK","MSK","Neonatal Epilepsy Spectrum"]
[null,"SIX3","HPE2","","Holoprosencephaly"]
[null,"SLC12A5","","KIAA1176, KCC2","Slc12A5-Related Epilepsy Of Infancy With Migrating Focal Seizures"]
[null,"SLC13A5","","NACT, INDY","Epileptic Encephalopathy With Seizure Onset In The First Days Of Life"]
[null,"SLC16A2","DXS128, AHDS, MRX22","XPCT, MCT8, MCT7","Allan-Herndon-Dudley Syndrome"]
[null,"SLC19A3","","THTR2","Thiamine Metabolism Dysfunction Syndrome 2"]
[null,"SLC1A2","","GLT-1, EAAT2","Epileptic Encephalopathy"]
[null,"SLC1A4","","SATT, ASCT1","Spastic Tetraplegia Thin Corpus Callosum And Progressive Microcephaly"]
[null,"SLC25A1","SLC20A3","CTP","Slc25A1-Related Neurometabolic Disorder"]
[null,"SLC25A12","","ARALAR","Developmental And Epileptic Encephalopathy 39"]
[null,"SLC25A15","ORNT1, HHH","ORC1, D13S327","Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome"]
[null,"SLC25A22","","GC1, FLJ13044, NET44, EIEE3","Epileptic Encephalopathy Early Infantile 3"]
[null,"SLC25A42","","MGC26694","Metabolic Crises Recurrent With Variable Encephalomyopathic Features And Neurologic Regression"]
[null,"SLC2A1","GLUT1, GLUT, HTLVR, CSE","DYT18, DYT9","Glucose Transporter Type 1 Deficiency Syndrome"]
[null,"SLC35A1","","CMPST, HCST","Congenital Disorders Of Glycosylation"]
[null,"SLC35A2","UGALT","UGAT, UGT, UGT1, UGT2, UGTL","Epileptic Encephalopathy Due To Congenital Disorder Of Glycosylation"]
[null,"SLC35A3","","","Arthrogryposis Mental Retardation And Seizures"]
[null,"SLC39A8","","BIGM103","Intellectual Disability With Cerebellar Atrophy"]
[null,"SLC45A1","DNB5","","Intellectual Disability And Epilepsy"]
[null,"SLC46A1","","HCP1, MGC9564, PCFT","Hereditary Folate Malabsorption"]
[null,"SLC5A6","","SMVT","Slc5A6-Related Neurodevelopmental Disorder"]
[null,"SLC6A1","","GAT1, GABATR, GABATHG","Epilepsy With Myoclonic-Atonic Seizures"]
[null,"SLC6A5","NET1","GLYT2","Hyperekplexia"]
[null,"SLC6A8","","CRTR, CT1","X-Linked Creatine Deficiency Syndrome"]
[null,"SLC9A6","","NHE6, KIAA0267","Mental Retardation Syndromic X-Linked Christianson Type"]
[null,"SMARCA2","SNF2L2","BAF190, HSNF2A, HBRM, STH1P, SNF2LA, BRM, SNF2, SWI2","Nicolaides-Baraitser Syndrome"]
[null,"SMARCC2","","BAF170, RSC8, CRACC2","Syndromic Intellectual Disability And Developmental Delay"]
[null,"SMC1A","SMC1L1","DXS423E, KIAA0178, SB1.8, SMCB","Epileptic Encephalopathy"]
[null,"SMS","SRS","SPMSY, SPS, MRSR","Snyder-Robinson Syndrome"]
[null,"SNAP25","SNAP","SNAP-25, RIC-4, RIC4, SEC9, BA416N4.2, DJ1068F16.2","Epilepsy And Intellectual Disability"]
[null,"SNIP1","","PML1","Symptomatic Epilepsy And Skull Dysplasia"]
[null,"SNORD118","","U8","Leukoencephalopathy With Cerebral Calcification And Cysts"]
[null,"SNX27","","MY014, KIAA0488, MGC20471",""]
[null,"SOX10","","DOM, WS4, WS2E","Yemenite Deaf-Blind Hypopigmentation Syndrome"]
[null,"SPATA5","","SPAF, AFG2","Epilepsy Hearing Loss And Mental Retardation Syndrome"]
[null,"SPR","","SDR38C1","Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency"]
[null,"SPTAN1","","","Epileptic Encephalopathy Early Infantile Type 5"]
[null,"SPTBN1","","","Sptbn1-Related Developmental Disorder Monoallelic"]
[null,"SPTBN4","","SPTBN3, KIAA1642","Neurodevelopmental Disorder With Hypotonia Neuropathy And Deafness"]
[null,"SSR4","","TRAPD","Congenital Disorder Of Glycosylation Type Iy"]
[null,"ST3GAL3","SIAT6, MRT12","","Developmental And Epileptic Encephalopathy 15"]
[null,"ST3GAL5","SIAT9","ST3GALV, SIATGM3S","Amish Infantile Epilepsy Syndrome"]
[null,"STAG1","","SA-1, SCC3A, SA1","Stag1 Syndromic Intellectual Disability"]
[null,"STAMBP","","AMSH","Microcephaly-Capillary Malformation Mic-Cap Syndrome"]
[null,"STARD7","","GTT1","Epilepsy Familial Adult Myoclonic 2"]
[null,"STRADA","","NY-BR-96, LYK5, STLK, STRAD","Polyhydramnios Megalencephaly And Symptomatic Epilepsy"]
[null,"STX1B","STX1B1, STX1B2","","Generalized Epilepsy With Febrile Seizures Plus Type 9"]
[null,"STXBP1","","HUNC18, MUNC18-1, UNC18, RBSEC1, NSEC1","Epileptic Encephalopathy Early Infantile Type 4"]
[null,"SUCLA2","LINC00444","","Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)"]
[null,"SUCLG1","","","Fatal Infantile Lactic Acidosis"]
[null,"SUMF1","","FGE, UNQ3037","Sulfatidosis Juvenile Austin Type"]
[null,"SUOX","","","Sulfite Oxidase Deficiency Isolated"]
[null,"SURF1","","SHY1","Leigh Syndrome"]
[null,"SYN1","MRX50","","Epilepsy X-Linked With Variable Learning Disabilities And Behavior Disorders"]
[null,"SYNGAP1","","SYNGAP, RASA5, KIAA1938","Syngap1-Related Developmental And Epileptic Encephalopathy"]
[null,"SYNJ1","","INPP5G, PARK20","Developmental And Epileptic Encephalopathy 53"]
[null,"SZT2","C1ORF84, KIAA0467","FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A, KICS1","Infantile Encephalopathy With Epilepsy And Dysmorphic Corpus Callosum"]
[null,"TAF1","TAF2A, BA2R, CCG1, CCGS, DYT3","NSCL2, TAFII250, KAT4, DYT3/TAF1","Dysmorphic Features Intellectual Disability And Neurological Manifestations"]
[null,"TANC2","","DKFZP564D166, FLJ10215, FLJ11824, KIAA1148, KIAA1636, ROLS, ROLSA","Tanc2-Related Neurodevelopmental And Psychiatric Disorders"]
[null,"TANGO2","C22ORF25","DKFZP761P1121","Infancy-Onset Recurrent Metabolic Crises With Encephalocardiomyopathy"]
[null,"TBC1D20","C20ORF140","DJ852M4.2","Warburg Micro Syndrome 4"]
[null,"TBC1D24","DFNB86","KIAA1171, TLDC6, DFNA65","Doors Syndrome"]
[null,"TBC1D2B","","KIAA1055","Tbc1D2B-Related Neurodevelopmental Disorder"]
[null,"TBCD","","","Early-Onset Neurodegenerative Encephalopathy"]
[null,"TBCE","KCS, HRD","KCS1, PAC2","Hypoparathyroidism-Retardation-Dysmorphism Syndrome"]
[null,"TBCK","","MGC16169, HSPC302","Severe Infantile Syndromic Encephalopathy"]
[null,"TBL1XR1","","IRA1, FLJ12894, TBLR1, C21, DC42","Pierpont Syndrome"]
[null,"TCF4","","SEF2-1B, ITF2, BHLHB19, E2-2","Pitt-Hopkins Syndrome"]
[null,"TDP2","TTRAP","","Spinocerebellar Ataxia Autosomal Recessive 23"]
[null,"TELO2","","KIAA0683, HCLK2, TEL2","Telo2 Syndromic Intellectual Disability Disorder"]
[null,"TET3","","MGC22014, HCG_40738","Tet3 Dna Demethylation Disorder Monoallelic"]
[null,"TFE3","","TFEA, BHLHE33","Tfe3-Related Intellectual Disability With Pigmentary Mosaicism"]
[null,"TIMM50","","TIM50L, TIM50","3-Methylglutaconic Aciduria Type Ix"]
[null,"TK2","","SCA31","Mitochondrial Dna Depletion Syndrome Myopathic Form"]
[null,"TMEM106B","","MGC33727, FLJ11273","Tmem106B Related Hypomyelinating Leukodystrophy"]
[null,"TMEM222","C1ORF160","DKFZP564D0478","Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities"]
[null,"TMEM70","","FLJ20533","Mitochondrial Complex V Atp Synthase Deficiency Nuclear Type 2"]
[null,"TMX2","TXNDC14","PDIA12","Primary Microcephaly Cortical Malformation And Epileptic Encephalopathy"]
[null,"TNK2","","P21CDC42HS, ACK, ACK1","Infantile-Onset Mesial Temporal Lobe Epilepsy With Severe Cognitive Regression"]
[null,"TPK1","","HTPK1, PP20","Thiamine Metabolism Dysfunction Syndrome 5 Episodic Encephalopathytype"]
[null,"TPP1","CLN2, SCAR7","LPIC, TPP-1","Neuronal Ceroid Lipofuscinosis Type 2"]
[null,"TRAF7","RFWD1","RNF119, DKFZP586I021, MGC7807","Developmental Delay Congenital Anomalies And Dysmorphic Features"]
[null,"TRAK1","","OIP106, KIAA1042, MILT1","Developmental And Epileptic Encephalopathy 68"]
[null,"TRAPPC12","TTC15","CGI-87, TTC-15","Progressive Childhood Encephalopathy And Golgi Dysfunction"]
[null,"TRAPPC4","","TRS23, SBDN, PTD009","Neurodevelopmental Disorder With Epilepsy Spasticity And Brain Atrophy"]
[null,"TRAPPC6B","","","Neurodevelopmental Disorder With Microcephaly Epilepsy And Brain Atrophy"]
[null,"TREX1","AGS1","DRN3","Aicardi-Goutieres Syndrome 1 Dominant And Recessive"]
[null,"TRIM8","RNF27","GERP","Trim8-Related Neurodevelopmental Disorder"]
[null,"TRIP13","","16E1BP","Mosaic Variegated Aneuploidy Syndrome 3"]
[null,"TRIT1","","FLJ20061, IPT","Trna Isopentenyltransferase Deficiency"]
[null,"TRPM3","","KIAA1616, LTRPC3, GON-2","Trpm3-Related Developmental Disorder Monoallelic"]
[null,"TRPM6","HOMG, HSH","CHAK2, FLJ22628","Hypomagnesemia 1 Intestinal"]
[null,"TRRAP","","TR-AP, PAF400, TRA1","Autism And Syndromic Intellectual Disability"]
[null,"TSC1","TSC","KIAA0243, LAM, HAMARTIN","Tuberous Sclerosis Type 1"]
[null,"TSC2","TSC4","TUBERIN, LAM, PPP1R160","Tuberous Sclerosis Type 2"]
[null,"TSEN15","C1ORF19","","Pontocerebellar Hypoplasia And Progressive Microcephaly"]
[null,"TSEN2","","SEN2, SEN2L, MGC2776","Pontocerebellar Hypoplasia Type 2 And Type 4"]
[null,"TSEN34","LENG5","SEN34, SEN34L","Pontocerebellar Hypoplasia Type 2 And Type 4"]
[null,"TSEN54","","SEN54, SEN54L","Pontocerebellar Hypoplasia Type 2 And Type 4"]
[null,"TSFM","","EF-TSMT, EF-TS","Combined Oxidative Phosphorylation Deficiency 3"]
[null,"TTC19","","FLJ20343, MGC19520","Mitochondrial Complex Iii Deficiency"]
[null,"TUBA1A","","TUBA3, B-ALPHA-1, FLJ25113","Lissencephaly Type 3"]
[null,"TUBA8","TUBAL2","","Polymicrogyria With Optic Nerve Hypoplasia"]
[null,"TUBB","","OK/SW-CL.56, MGC16435, M40, TUBB5","Cortical Dysplasia Complex With Other Brain Malformations 6"]
[null,"TUBB2A","TUBB, TUBB2","DJ40E16.7","Cortical Dysplasia Complex With Other Brain Malformations 5"]
[null,"TUBB2B","","MGC8685, DKFZP566F223, BA506K6.1","Polymicrogyria Asymmetric"]
[null,"TUBB3","FEOM3","BETA-4, CFEOM3, CFEOM3A","Cortical Dysplasia Complex With Other Brain Malformations 1"]
[null,"TUBB4A","TUBB4, DYT4","BETA-5","Hypomyelination With Atrophy Of The Basal Ganglia And Cerebellum"]
[null,"TUBG1","TUBG","TUBGCP1","Posteriorly Predominant Pachygyria And Severe Microcephaly"]
[null,"TUBGCP2","","GCP2, SPC97P, SPBC97","Microcephaly And Lissencephaly Spectrum Disorders"]
[null,"TXNRD1","","TXNR, GRIM-12, TRXR1",""]
[null,"UBA5","UBE1DC1","FLJ23251","Severe Infantile-Onset Encephalopathy"]
[null,"UBE2A","","UBC2, HHR6A, RAD6A, HR6A","Ube2A-Related X-Linked Syndromic Mental Retardation"]
[null,"UBE3A","EPVE6AP, HPVE6A","AS, ANCR, E6-AP, FLJ26981","Angelman Syndrome"]
[null,"UBR7","C14ORF130","","Li-Campeau Syndrome"]
[null,"UBTF","","UBF, NOR-90, UBF1, UBF2","Childhood-Onset Neurodegeneration"]
[null,"UFC1","","HSPC155","Severe Early-Onset Encephalopathy With Progressive Microcephaly"]
[null,"UFM1","C13ORF20","BA131P10.1","Severe Early-Onset Encephalopathy With Progressive Microcephaly"]
[null,"UFSP2","C4ORF20","FLJ11200","Spondyloepimetaphyseal Dysplasia Di Rocco Type"]
[null,"UGDH","","","Developmental And Epileptic Encephalopathy 84"]
[null,"UGP2","UGP1","UGPP1, SVUGP2","Ugp2 Epileptic Encephalopathy"]
[null,"UNC80","C2ORF21","FLJ33496, KIAA1843, UNC-80","Persistent Hypotonia Encephalopathy Growth Retardation And Severe Intellectual Disability"]
[null,"USP18","","","Severe Pseudo-Torch Syndrome"]
[null,"USP7","HAUSP","","Usp7-Related Developmental Disorder Monoallelic"]
[null,"VAMP2","SYB2","VAMP-2","Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements"]
[null,"VARS1","VARS2, VARS","","Neurodevelopmental Disorder With Microcephaly Seizures And Cortical Atrophy"]
[null,"VLDLR","","CARMQ1, CHRMQ1, VLDLRCH","Cerebellar Ataxia Mental Retardation And Dysequilibrium Syndrome Type 1"]
[null,"VPS11","","RNF108, PEP5","Leukodystrophy Hypomyelinating 12"]
[null,"VPS13A","CHAC","KIAA0986","Choreoacanthocytosis"]
[null,"WARS2","","MTTRPRS","Neurodevelopmental Disorder Mitochondrial With Abnormal Movements And Lactic Acidosis With Or Without Seizures"]
[null,"WASF1","","WAVE1, SCAR1, KIAA0269, WAVE","Intellectual Disability With Seizures"]
[null,"WDR26","","FLJ21016, GID7","Intellectual Disability Seizures Abnormal Gait And Distinctive Facial Features"]
[null,"WDR37","","KIAA0982","Syndromic Intellectual Disability"]
[null,"WDR45","WDRX1","JM5, WIPI4, NBIA5","Neurodegeneration With Brain Iron Accumulation"]
[null,"WDR45B","WDR45L","WIPI3","Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures"]
[null,"WDR62","C19ORF14, MCPH2","DKFZP434J046, FLJ33298","Microcephaly Cortical Malformations And Mental Retardation"]
[null,"WDR73","","FLJ14888, HSPC264","Galloway-Mowat Syndrome: Microcephaly And Steroid-Resistant Nephrotic Syndrome"]
[null,"WWOX","","FOR, WOX1, SDR41C1","Epileptic Encephalopathy Early Infantile 28"]
[null,"YIF1B","","FINGER8",""]
[null,"YIPF5","","SMAP-5, FINGER5",""]
[null,"YWHAG","","PPP1R170, 14-3-3GAMMA, 14-3-3?","Early-Onset Epilepsy"]
[null,"YY1","","NF-E1, DELTA, UCRBP, YIN-YANG-1, INO80S","Gabriele-De Vries Syndrome"]
[null,"ZBTB18","ZNF238","C2H2-171, TAZ-1, RP58","Mental Retardation Autosomal Dominant 22"]
[null,"ZDHHC9","ZDHHC10, CXORF11","ZNF379, CGI-89, ZNF380, DHHC9","Intellectual Developmental Disorder X-Linked Syndromic Raymond Type"]
[null,"ZEB2","ZFHX1B","KIAA0569, SIP-1, SIP1","Mowat-Wilson Syndrome"]
[null,"ZFYVE26","SPG15","KIAA0321","Spastic Paraplegia Autosomal Recessive Type 15"]
[null,"ZMIZ1","RAI17","RP11-519K18.1, KIAA1224, FLJ13541, HZIMP10, ZIMP10, MIZ","Syndromic Neurodevelopmental Disorder"]
[null,"ZNF142","","KIAA0236, PHZ-49","Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements"]
[null,"ZNF335","","BA465L10.2, NIF-1","Microcephaly 10 Primary Autosomal Recessive"]
[null,"ZNHIT3","TRIP3","HIT1","Peho Syndrome"]
[null,"ZSWIM6","","KIAA1577","Acromelic Frontonasal Dysostosis"]

{"sheet":"Growth and Related Disorders","index":7,"n_rows":522,"n_cols":5,"rows_kept":522,"cut":false,"hidden":true,"merged":[[0,1,0,4]]}
[null,"Growth and Related Disorders Panel"]
[null,"Gene","Previous Symbols","Alias Symbols","Disease Association"]
[null,"ACAN","MSK16, CSPG1, AGC1","CSPGCP","Spondyloepiphyseal Dysplasia Type Kimberley"]
[null,"ACP5","","TRAP, HPAP","Spondyloenchondrodysplasia With Immune Dysregulation"]
[null,"ACTB","","","Baraitser-Winter Syndrome 1"]
[null,"ACTG1","ACTG, DFNA20, DFNA26","","Baraitser-Winter Syndrome"]
[null,"ACVR1","ACVRLK2","SKR1, ALK2, ACVR1A","Fibrodysplasia Ossificans Progressiva"]
[null,"ADAMTS10","","ADAM-TS10","Weill-Marchesani Syndrome 1"]
[null,"ADAMTS17","","FLJ32769, FLJ16363","Weill-Marchesani Syndrome 4"]
[null,"ADAMTS2","","ADAMTS-3, HPCPNI, PCINP, ADAM-TS2, NPI","Ehlers-Danlos Syndrome Dermatosparaxis Type"]
[null,"ADAMTSL2","","KIAA0605","Geleophysic Dysplasia 1"]
[null,"AFF4","","AF5Q31, MCEF","Cornelia De Lange-Like Syndrome"]
[null,"AGA","","ASRG","Aspartylglucosaminuria"]
[null,"AGPS","","ADHAPS, ADAS, ALDHPSY, ADPS, ADAP-S","Rhizomelic Chondrodysplasia Punctata Type 3"]
[null,"AIFM1","PDCD8, NAMSD, AUNX1","AIF, CMTX4, DFNX5","Combined Oxidative Phosphorylation Deficiency 6"]
[null,"AKT1","","RAC, PKB, PRKBA, AKT, RAC-ALPHA","Proteus Syndrome"]
[null,"ALPL","HOPS","TNSALP, TNALP, TNAP","Hypophosphatasia"]
[null,"ALX1","CART1","","Frontonasal Dysplasia Type 3"]
[null,"ALX3","FND","","Frontonasal Dysplasia Type 1"]
[null,"ALX4","PFM2","FPP, PFM, KIAA1788","Parietal Foramina 2"]
[null,"AMER1","FAM123B","RP11-403E24.2, FLJ39827, WTX","Osteopathia Striata With Cranial Sclerosis"]
[null,"AMMECR1","","","Midface Hypoplasia Hearing Impairment Elliptocytosis And Nephrocalcinosis"]
[null,"ANKH","CCAL2, CMDJ","HANK, ANK, CPPDD, SLC62A1","Craniometaphyseal Dysplasia Jackson Type"]
[null,"ANKRD11","","LZ16, T13","Kbg Syndrome"]
[null,"ANO5","TMEM16E, LGMD2L","GDD1","Gnathodiaphyseal Dysplasia"]
[null,"ANTXR2","","CMG2, CMG-2, FLJ31074","Hyaline Fibromatosis Syndrome"]
[null,"ARCN1","COPD","","Microcephalic Dwarfism"]
[null,"ARHGAP31","","CDGAP","Adams-Oliver Syndrome 1"]
[null,"ARID1A","C1ORF4, SMARCF1","B120, P270, C10RF4, BAF250, BAF250A","Coffin-Siris Syndrome"]
[null,"ARID1B","","KIAA1235, ELD/OSA1, P250R, BAF250B, DAN15, 6A3-5, SMARCF2","Coffin Siris Syndrome"]
[null,"ARSB","","","Mucopolysaccharidosis Type 6"]
[null,"ARSL","CDPX, CDPX1, ARSE","","Chondrodysplasia Punctata 1 X-Linked"]
[null,"ASCC1","","CGI-18, ASC1P50, EM:AC022392.3, P50","Prenatal Spinal Muscular Atrophy And Congenital Bone Fractures"]
[null,"ASXL1","","KIAA0978","Bohring-Opitz Syndrome"]
[null,"ATP6V0A2","","TJ6, A2, TJ6S, TJ6M, ATP6A2, J6B7, ATP6N1D, VPH1, STV1, A2V, RTF","Cutis Laxa Autosomal Recessive Type Iia"]
[null,"ATR","","FRP1, SCKL, SCKL1, MEC1","Seckel Syndrome Type 1"]
[null,"B3GALT6","","BETA3GALT6","Spondyloepimetaphyseal Dysplasia With Joint Laxity Type 1"]
[null,"B3GAT3","","GLCAT-I","Multiple Joint Dislocations Short Stature And Craniofacial Dysmorphismwith Or Without Congenital Heart Defects"]
[null,"B4GALT7","","XGALT-1, BETA4GAL-T7","Ehlers-Danlos Syndrome Progeroid Type"]
[null,"BCOR","","FLJ20285, KIAA1575","Microphthalmia Syndromic Type 2"]
[null,"BCS1L","","HS.6719, BCS, H-BCS, BJS","Gracile Syndrome"]
[null,"BGN","","DSPG1, SLRR1A","X-Linked Spondyloepimetaphyseal Dysplasia"]
[null,"BHLHA9","","BHLHF42","Split Hand And Foot Malformation"]
[null,"BLM","","BS, RECQL3, RECQ2","Bloom Syndrome"]
[null,"BMP1","PCOLC","BMP-1","Osteogenesis Imperfecta Type Xiii"]
[null,"BMP2","BMP2A","","Short Stature Palatal Anomalies Congenital Heart Disease And Skeletal Malformations"]
[null,"BMPER","","CV2, CRIM3","Diaphanospondylodysostosis"]
[null,"BMPR1B","","ALK6, CDW293","Brachydactyly Type A2"]
[null,"BPNT2","IMPAD1","FLJ20421, IMPA3, GPAPP","Chondrodysplasia With Joint Dislocations Grapp Type"]
[null,"BRAF","","BRAF1","Cardiofaciocutaneous Syndrome"]
[null,"BRCA2","FANCD1, FACD, FANCD","FAD, FAD1, BRCC2, XRCC11","Fanconi Anemia Complementation Group D Type 1"]
[null,"BRIP1","","OF, BACH1, FANCJ","Fanconi Anemia Complementation Group J"]
[null,"C2CD3","","DKFZP586P0123","Orofaciodigital Syndrome Xiv"]
[null,"CA2","","CAR2, CA-II, CAII","Osteopetrosis Autosomal Recessive Type 3"]
[null,"CANT1","","SHAPY, SCAN-1","Desbuquois Dysplasia 1"]
[null,"CASR","HHC, HHC1","FHH, NSHPT, GPRC2A","Hypocalcemia Autosomal Dominant 1"]
[null,"CBL","CBL2","RNF55, C-CBL","Noonan Syndrome-Like Disorder With Or Without Juvenile Meylomonocytic Leukemia"]
[null,"CC2D2A","","KIAA1345, MKS6, JBTS9","Joubert Syndrome 9"]
[null,"CCDC47","","GK001","Woolly Hair Liver Dysfunction Dysmorphic Features And Global Developmental Delay"]
[null,"CCDC8","","DKFZP564K0322, 3M3, PPP1R20","Three M Syndrome 3"]
[null,"CCN6","WISP3","WISP-3","Progressive Pseudorheumatoid Dysplasia"]
[null,"CCNQ","FAM58A","CYCM","Star Syndrome"]
[null,"CDC42","","G25K, CDC42HS","Cdc42-Related Neurodevelopmental Disorder"]
[null,"CDC45","CDC45L2, CDC45L","","Meier-Gorlin Syndrome And Craniosynostosis"]
[null,"CDC6","CDC18L","","Meier-Gorlin Syndrome 5"]
[null,"CDH11","","OB, CAD11","Elsahy-Waters Syndrome"]
[null,"CDH3","","CDHP, PCAD","Eem Syndrome"]
[null,"CDK13","CDC2L5","CHED, CDC2L, KIAA1791","Syndromic Intellectual Disability With Or Without Congenital Heart Disease"]
[null,"CDKN1C","BWCR, BWS","P57, KIP2","Image Syndrome"]
[null,"CDT1","","DUP, RIS2","Meier-Gorlin Syndrome 4"]
[null,"CENPE","","KIF10, PPP1R61","Microcephaly 13 Primary Autosomal Recessive"]
[null,"CENPJ","MCPH6","CPAP, BM032, LAP, LIP1, SAS-4, SASS4, SCKL4","Cenpj-Related Developmental Disorder"]
[null,"CEP120","CCDC100","FLJ36090","Joubert Syndrome 31"]
[null,"CEP152","","KIAA0912, SCKL5, MCPH9","Cep152-Related Developmental Disorder"]
[null,"CEP290","","KIAA0373, FLJ13615, 3H11AG, RD16, NPHP6, JBTS5, SLSN6, LCA10, MKS4, BBS14, CT87, POC3","Joubert Syndrome Type 5"]
[null,"CEP63","","FLJ13386","Seckel Syndrome 6"]
[null,"CFAP410","C21ORF2","YF5, A2, LRRC76","Axial Spondylometaphyseal Dysplasia"]
[null,"CHD7","CRG","KIAA1416, FLJ20357, FLJ20361","Charge Syndrome"]
[null,"CHST14","D4ST1","HD4ST, D4ST-1","Ehlers-Danlos Syndrome Musculocontractural Type"]
[null,"CHST3","","C6ST, C6ST1","Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations"]
[null,"CHSY1","","KIAA0990, CSS1","Temtamy Preaxial Brachydactyly Syndrome"]
[null,"CILK1","ICK","MRK, LCK2, KIAA0936, MGC46090","Epilepsy Juvenile Myoclonic Susceptibility To 10"]
[null,"CKAP2L","","FLJ40629, RADMIS","Filippi Syndrome. Syndactyly Type I With Microcephaly And Mental Retardation"]
[null,"CLCN5","NPHL2, NPHL1","DENTS, XLRH, HCLC-K2, HCIC-K2, CLC5, XRN, CLC-5","Nephrolithiasis X-Linked Recessive With Renal Failure"]
[null,"CLCN7","","CLC-7, OPTA2, CLC7, CLC-7, PPP1R63","Clcn7-Related Osteopetrosis"]
[null,"COG4","","COD1, DKFZP586E1519","Congenital Disorder Of Glycosylation Type Iij"]
[null,"COL10A1","","","Schmid Type Metaphyseal Chondrodysplasia"]
[null,"COL11A1","COLL6, DFNA37","STL2, CO11A1","Stickler Syndrome Type Ii"]
[null,"COL11A2","DFNA13, DFNB53","HKE5","Autosomal Recessive Otospondylomegaepiphyseal Dysplasia"]
[null,"COL1A1","","OI4","Col1A1-Related Osteogenesis Imperfecta"]
[null,"COL1A2","OI4","","Osteogenesis Imperfecta Type Iv"]
[null,"COL27A1","","KIAA1870, MGC11337, FLJ11895","Steel Syndrome"]
[null,"COL2A1","SEDC, AOM","STL1","Kniest Dysplasia"]
[null,"COL3A1","EDS4A","","Ehlers-Danlos Syndrome Vascular Type"]
[null,"COL5A1","","","Ehlers-Danlos Syndrome Classic Type 1"]
[null,"COL5A2","","","Ehlers-Danlos Syndrome Classic Type 2"]
[null,"COL9A1","","","Multiple Epiphyseal Dysplasia Type 6"]
[null,"COL9A2","EDM2","MED","Stickler Syndrome Type V"]
[null,"COL9A3","","IDD, MED, EDM3, FLJ90759, DJ885L7.4.1","Multiple Epiphyseal Dysplasia Type 3"]
[null,"COMP","PSACH, EDM1, EPD1","MED, THBS5","Multiple Epiphyseal Dysplasia Type 1"]
[null,"CREB3L1","","OASIS","Osteogenesis Imperfecta Type Xvi"]
[null,"CREBBP","RSTS","RTS, CBP, KAT3A","Rubinstein-Taybi Syndrome Type 1"]
[null,"CRIPT","","HSPC139","Short Stature With Microcephaly And Distinctive Facies"]
[null,"CRLF1","","CLF-1, CLF, CISS, CISS1","Crisponi/Cold-Induced Sweating Syndrome 1"]
[null,"CRTAP","","CASP, LEPREL3, P3H5","Osteogenesis Imperfecta Type Vii"]
[null,"CSF1R","FMS","C-FMS, CSFR, CD115","Brain Abnormalities Neurodegeneration And Dysosteosclerosis"]
[null,"CSPP1","","FLJ22490, CSPP, JBTS21, CSPP-L","Joubert Syndrome With Or Without Jeune Asphyxiating Thoracic Dystrophy"]
[null,"CTSK","CTSO2, CTSO, PYCD","PKND","Pycnodysostosis"]
[null,"CUL7","KIAA0076","DJ20C7.5","3-M Syndrome 1"]
[null,"CWC27","SDCCAG10","NY-CO-10, SDCCAG-10","Retinitis Pigmentosa Skeletal Anomalies And Intellectual Disability"]
[null,"CYP27B1","VDD1, PDDR","CYP1, P450C1","Vitamin D Hydroxylation-Deficient Rickets Type 1A"]
[null,"CYP2R1","","","Vitamin D Hydroxylation-Deficient Rickets Type 1B"]
[null,"DDR2","TYRO10, NTRKR3","TKT","Spondyloepimetaphyseal Dysplasia Short Limb-Hand Type"]
[null,"DDRGK1","C20ORF116","DJ1187M17.3, UFBP1","Spondyloepimetaphyseal Dysplasia Shohat Type"]
[null,"DDX58","","RIG-I, FLJ13599, DKFZP434J1111, RIG-1, RIG1","Singleton-Merten Syndrome"]
[null,"DHCR24","DCE","KIAA0018, SELADIN-1","Desmosterolosis"]
[null,"DHCR7","SLOS","","Smith-Lemli-Opitz Syndrome"]
[null,"DHODH","","","Postaxial Acrofacial Dysostosis"]
[null,"DLL3","","SCDO1","Spondylocostal Dysostosis Type 1"]
[null,"DLL4","","","Adams-Oliver Syndrome 6"]
[null,"DLX3","","","Amelogenesis Imperfecta Type Iv"]
[null,"DLX5","","","Split Hand And Foot Malformation"]
[null,"DMP1","","","Hypophosphatemic Rickets Ar"]
[null,"DNAJC21","","GS3, DNAJA5, JJJ1","Bone Marrow Failure Syndrome 3"]
[null,"DNMT3A","","","Tatton-Brown Rahman Syndrome (Overgrowth Syndrome With Intellectual Disability)"]
[null,"DOCK6","","KIAA1395, ZIR1","Adams-Oliver Syndrome 2"]
[null,"DONSON","C21ORF60","B17, C2TA, DKFZP434M035","Microcephaly-Micromelia Syndrome"]
[null,"DSE","SART2","DSEPI, DS-EPI1","Ehlers-Danlos Syndrome Musculocontractural Type 2"]
[null,"DVL1","","","Autosomal Dominant Robinow Syndrome"]
[null,"DVL3","","KIAA0208","Autosomal Dominant Robinow Syndrome"]
[null,"DYM","","FLJ20071, DMC, SMC","Dyggve-Melchior-Clausen Syndrome/Smith-Mccort Dysplasia"]
[null,"DYNC2H1","DNCH2","HDHC11, DHC2, DHC1B, DYH1B","Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly"]
[null,"DYNC2I1","WDR60","FLJ10300, FAP163, CFAP163, DIC6","Short-Rib Polydactyly"]
[null,"DYNC2I2","WDR34","DIC5, MGC20486, BA216B9.3, FAP133, CFAP133","Severe Asphyxiating Thoracic Dysplasia"]
[null,"DYNC2LI1","","D2LIC, LIC3, CGI-60, DKFZP564A033","Short-Rib Thoracic Dysplasia 15 With Polydactyly"]
[null,"DYNLT2B","TCTEX1D2","MGC33212","Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly"]
[null,"EBP","CDPX2","CPX, CPXD, CHO2","Chondrodysplasia Punctata 2 X-Linked"]
[null,"EDN1","","ET1","Auriculocondylar Syndrome 3"]
[null,"EDNRA","","ET-A, ETA-R, HET-AR","Mandibulofacial Dysostosis With Alopecia"]
[null,"EFL1","EFTUD1","FLJ13119, FAM42A, HST19294, RIA1","Shwachman-Diamond Syndrome 2"]
[null,"EFNB1","EPLG2, CFNS","LERK2, ELK-L","Craniofrontonasal Syndrome"]
[null,"EFTUD2","","U5-116KD, SNRP116, SNU114, SNRNP116","Mandibulofacial Dysostosis With Microcephaly"]
[null,"EIF2AK3","","PEK, PERK","Wolcott-Rallison Syndrome"]
[null,"EIF4A3","DDX48","KIAA0111, EIF4AIII, FAL1","Richieri-Costa-Pereira Syndrome"]
[null,"ENAM","AIH2","","Amelogenesis Imperfecta Type Ib"]
[null,"ENPP1","NPPS, M6S1, PDNP1","PC-1, PCA1","Generalized Arterial Calcification Of Infancy And Hypophosphataemic Rickets"]
[null,"EOGT","C3ORF64","AER61, FLJ33770","Adams Oliver Syndrome"]
[null,"EP300","","P300, KAT3B","Rubinstein-Taybi Syndrome Type 2"]
[null,"ERCC4","XPF","RAD1, FANCQ","Fanconi Anemia Complementation Group Q"]
[null,"ERF","","PE-2, PE2","Complex Craniosynostosis"]
[null,"ESCO2","RBS","EFO2","Roberts Syndrome"]
[null,"EVC","","DWF-1, EVC1","Acrofacial Dysostosis Weyers Type"]
[null,"EVC2","","LBN","Acrofacial Dysostosis Weyers Type"]
[null,"EXOSC2","","HRRP4P, RRP4P, RRP4, P7","Short Stature Hearing Loss Retinitis Pigmentosa And Distinctive Facies"]
[null,"EXT1","LGCR, LGS","TTV","Hereditary Multiple Exostoses Type 1"]
[null,"EXT2","","SOTV","Seizures Scoliosis And Macrocephaly/Microcephaly Syndrome"]
[null,"EXTL3","","BOTV, REGR","Neuro Immuno Skeletal Dysplasia Syndrome"]
[null,"EYA1","BOR","","Branchiootorenal Syndrome Type 1"]
[null,"EZH2","","EZH1, ENX-1, KMT6, KMT6A","Weaver Syndrome 2"]
[null,"FAM111A","","FLJ22794, KIAA1895","Kenny-Caffey Syndrome"]
[null,"FAM20A","","DKFZP434F2322","Amelogenesis Imperfecta And Gingival Fibromatosis Syndrome"]
[null,"FAM20C","","IMAGE:4942737, DKFZP547D065, DMP4, G-CK","Raine Syndrome"]
[null,"FAM83H","","FLJ46072","Amelogenesis Imperfecta Type Iiia"]
[null,"FANCA","FACA, FANCH","FAA, FA-H, FAH","Fanconi Anemia Complementation Group A"]
[null,"FANCB","","FAB, FLJ34064, FAAP95","Fancb-Related Fanconi Anemia"]
[null,"FANCC","FACC","FAC, FA3","Fanconi Anemia Complementation Group C"]
[null,"FANCD2","FACD, FANCD","FAD, FA-D2","Fanconi Anemia Complementation Group D2"]
[null,"FANCE","FACE","FAE","Fanconi Anemia Complementation Group E"]
[null,"FANCF","","FAF","Fanconi Anemia Complementation Group F"]
[null,"FANCG","XRCC9","FAG","Fanconi Anemia Complementation Group G"]
[null,"FANCI","KIAA1794","FLJ10719","Fanconi Anemia"]
[null,"FANCL","PHF9","FLJ10335, FAAP43, POG","Fanconi Anemia"]
[null,"FANCM","KIAA1596","FAAP250","Fancm-Related Fanconi Anemia"]
[null,"FBN1","FBN, MFS1, WMS","MASS, OCTD, SGS","Weill-Marchesani Syndrome Autosomal Dominant"]
[null,"FBN2","CCA","DA9","Congenital Contractural Arachnodactyly"]
[null,"FERMT3","","URP2, KIND3, MIG2B, MGC10966, UNC112C","Leukocyte Adhesion Deficiency Type Iii"]
[null,"FGD1","FGDY","ZFYVE3","Aarskog-Scott Syndrome"]
[null,"FGF10","","","Ladd Syndrome"]
[null,"FGF23","","","Hypophosphatemic Rickets Autosomal Dominant"]
[null,"FGF9","","","Multiple Synostoses Syndrome Type 3"]
[null,"FGFR1","FLT2, KAL2","H2, H3, H4, H5, CEK, FLG, BFGFR, N-SAM, CD331","Pfeiffer Syndrome"]
[null,"FGFR2","KGFR, BEK, CFD1, JWS","CEK3, TK14, TK25, ECT1, K-SAM, CD332","Apert Syndrome"]
[null,"FGFR3","ACH","CEK2, JTK4, CD333","Achondroplasia"]
[null,"FIG4","KIAA0274","SAC3, HSAC3, DJ249I4.1, ALS11, CMT4J","Cleidocranial Dysplasia With Micrognathia Absent Thumbs And Distal Aphalangia Yunis-Varon Syndrome"]
[null,"FKBP10","","HFKBP65, FKBP65, FLJ22041, FKBP6, FLJ20683, FLJ23833","Osteogenesis Imperfecta Type Xi"]
[null,"FKBP14","","FLJ20731, FKBP22","Ehlers-Danlos Syndrome With Progressive Kyphoscoliosis Myopathy And Hearing Loss"]
[null,"FLNA","FLN1, FLN, OPD2, OPD1","ABP-280","Melnick-Needles Syndrome"]
[null,"FLNB","FLN1L, LRS1","TAP, TABP, ABP-278, FH1","Atelosteogenesis Type 1"]
[null,"FN1","","MSF, CIG, LETS, GFND2, FINC","Spondylometaphyseal Dysplasia With Corner Fractures"]
[null,"FTO","","KIAA1752, MGC5149, ALKBH9","Growth Retardation Developmental Delay Coarse Facies And Early Death"]
[null,"FUCA1","","","Fucosidosis"]
[null,"FZD2","","","Omodysplasia 2"]
[null,"GALNS","","GAS, GALNAC6S, GALN6S","Mucopolysaccharidosis Type 4A"]
[null,"GALNT3","","GALNAC-T3, HHS, HFTC","Tumoral Calcinosis Hyperphosphatemic Familial 1"]
[null,"GCM2","GCMB","HGCMB","Hypoparathyroidism Familial Isolated 2"]
[null,"GDF3","","","Gdf3 Multiple Malformations"]
[null,"GDF5","","CDMP1, BMP14","Gdf5-Related Symphalangism Spectrum Disorder"]
[null,"GDF6","SGM1","BMP13, KFS, KFS1","Gdf6 Oculo-Skeletal Syndrome"]
[null,"GH1","","GH-N, GHN, GH, HGH-N","Kowarski Syndrome"]
[null,"GHR","","GHBP","Pituitary Dwarfism Ii"]
[null,"GHRHR","","","Isolated Growth Hormone Deficiency Type Iv"]
[null,"GHSR","","","Growth Hormone Deficiency Isolated Partial"]
[null,"GJA1","ODDD, GJAL","CX43, ODD, ODOD, SDTY3","Syndactyly Type 3"]
[null,"GLB1","ELNR1","EBP","Gm1 Gangliosidosis Type 3"]
[null,"GLI1","GLI","","Polydactyly Preaxial I"]
[null,"GLI2","","THP2, HPE9, THP1","Gli2-Related Holoprosencephaly"]
[null,"GLI3","GCPS, PHS","PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV","Pallister-Hall Syndrome"]
[null,"GMNN","","GEM","Autosomal-Dominant Primordial Dwarfism Associated With Meier-Gorlin Syndrome"]
[null,"GNAI3","","87U6","Auriculocondylar Syndrome"]
[null,"GNAS","GNAS1","NESP55, NESP, GNASXL, GPSA, SCG6, SGVI","Pseudohypoparathyroidism Type 1B"]
[null,"GNPAT","","DHAPAT, DAPAT, DAP-AT","Rhizomelic Chondrodysplasia Punctata Type 2"]
[null,"GNPTAB","GNPTA","KIAA1208, MGC4170","Mucolipidosis Type Iii Complementation Group A"]
[null,"GNPTG","GNPTAG, C16ORF27","CAB56184, C316G12.3","Mucolipidosis Type Iii Complementation Group C"]
[null,"GNS","","","Mucopolysaccharidosis Type 3D"]
[null,"GORAB","SCYL1BP1","FLJ11752, NTKL-BP1, GO","Geroderma Osteodysplasticum"]
[null,"GPC6","","","Omodysplasia Type 1 (Omod1)"]
[null,"GSC","","","Short Stature Auditory Canal Atresia Mandibular Hypoplasia And Skeletal Abnormalities"]
[null,"GUSB","","","Mucopolysaccharidosis Type 7"]
[null,"GZF1","ZNF336","DJ322G13.2, ZBTB23","Larsen Syndrome"]
[null,"HAAO","","","Vertebral Cardiac Renal And Limb Defects Syndrome 1"]
[null,"HDAC4","BDMR","KIAA0288, HDAC-A, HDACA, HD4, HA6116, HDAC-4","Brachydactyly-Mental Retardation Syndrome"]
[null,"HDAC8","HDACL1, WTS, MRXS6","RPD3, KDAC8","Cornelia De Lange Syndrome Hdac8 X-Linked Dominant"]
[null,"HES7","","BHLHB37","Spondylocostal Dysostosis 4 Autosomal Recessive"]
[null,"HESX1","","RPX, ANF","Septooptic Dysplasia"]
[null,"HNRNPK","HNRPK","CSBP, TUNP","Au-Kline Syndrome"]
[null,"HOXA11","HOX1I, HOX1","","Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia"]
[null,"HOXA13","HOX1J, HOX1","","Hand-Foot-Genital Syndrome"]
[null,"HOXD13","HOX4I, SPD","","Brachydactyly-Syndactyly Syndrome"]
[null,"HPGD","","SDR36C1","Cranioosteoarthropathy"]
[null,"HRAS","HRAS1","","Costello Syndrome"]
[null,"HSPA9","HSPA9B","GRP75, PBP74, MOT-2, MTHSP75","Even-Plus Syndrome"]
[null,"HSPG2","SJS1","PERLECAN, PRCAN","Dyssegmental Dysplasia Silverman-Handmaker Type"]
[null,"IARS2","","FLJ10326","Cataracts Growth Hormone Deficiency Sensory Neuropathy Sensorineural Hearing Loss And Skeletal Dysplasia"]
[null,"IDH2","","","D-2-Hydroxyglutaric Aciduria 2"]
[null,"IDS","SIDS","ID2S","Mucopolysaccharidosis Type 2"]
[null,"IDUA","","MPS1, MPSI","Mucopolysaccharidosis Type 1S"]
[null,"IFIH1","","MDA-5, HLCD, MDA5, IDDM19","Aicardi-Goutieres Syndrome 7"]
[null,"IFITM5","","FRAGILIS4, HRMP1, BRIL, DSPA1","Osteogenesis Imperfecta Type V"]
[null,"IFT122","WDR10","WDR140, WDR10P, SPG, FAP80","Cranioectodermal Dysplasia"]
[null,"IFT140","WDTC2","GS114, KIAA0590","Mainzer-Saldino Syndrome"]
[null,"IFT172","","SLB, WIM, OSM-1, NPHP17, BBS20","Mainzer-Saldino Syndrome"]
[null,"IFT43","C14ORF179","FLJ32173, MGC16028","Cranioectodermal Dysplasia Type 3"]
[null,"IFT52","C20ORF9","CGI-53, NGD5, DJ1028D15.1, NGD2","Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly"]
[null,"IFT80","WDR56","KIAA1374, FAP167","Asphyxiating Thoracic Dystrophy 2"]
[null,"IFT81","CDV1","CDV-1R, MGC4027","Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly"]
[null,"IGF1","","IGF1A, IGFI, IGF-I, IGF","Insulin-Like Growth Factor I Deficiency"]
[null,"IGF1R","","JTK13, CD221, IGFIR, MGC18216, IGFR","Insulin-Like Growth Factor I Resistance To Biallelic"]
[null,"IGF2","C11ORF43","FLJ44734, IGF-II","Chromosome 11P15.5-Related Russell-Silver Syndrome"]
[null,"IGFALS","","ALS","Acid-Labile Subunit Deficiency"]
[null,"IHH","","HHG2, BDA1","Acrocapitofemoral Dysplasia"]
[null,"IL1RN","","IL1RA, ICIL-1RA, IL1F3, IRAP, IL-1RN, MGC10430","Osteomyelitis Sterile Multifocal With Periostitis And Pustulosis"]
[null,"INPPL1","","SHIP2","Opsismodysplasia"]
[null,"INSR","","CD220","Donohue Syndrome"]
[null,"INTU","PDZK6, PDZD6","KIAA1284, CPLANE4","Orofaciodigital Syndrome Xvii"]
[null,"IRF6","VWS, LPS","OFC6, VWS1","Popliteal Pterygium Syndrome"]
[null,"IRS1","","HIRS-1","Type 2 Diabetes Mellitus"]
[null,"KAT6B","MYST4","QUERKOPF, QKF, MORF, MOZ2, ZC2HC6B","Genitopatellar Syndrome"]
[null,"KCNJ2","","KIR2.1, IRK1, LQT7","Andersen Cardiodysrhythmic Periodic Paralysis"]
[null,"KDM1A","AOF2, KDM1","KIAA0601, BHC110, LSD1","Developmental Delay And Distinctive Facial Features"]
[null,"KDM6A","UTX","","Kabuki Syndrome 2"]
[null,"KIAA0586","","TALPID3, JBTS23","Joubert Syndrome"]
[null,"KIAA0753","","OFIP, MNR","Orofaciodigital Syndrome Xv"]
[null,"KIF22","KNSL4","KID, OBP-1, OBP-2","Spondyloepimetaphyseal Dysplasia With Joint Laxity Type 2"]
[null,"KIF7","","JBTS12","Acrocallosal Syndrome"]
[null,"KL","","KLA","Tumoral Calcinosis Hyperphosphatemic Familial 3"]
[null,"KMT2A","MLL","TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A","Wiedemann-Steiner Syndrome"]
[null,"KMT2D","TNRC21, MLL2","ALR, MLL4, CAGL114","Kabuki Syndrome"]
[null,"KRAS","KRAS2","KRAS1, K-RAS4B","Noonan Syndrome Type 3"]
[null,"KYNU","","","Vertebral Cardiac Renal And Limb Defects Syndrome 2"]
[null,"LARP7","","HDCMA18P, PIP7S, DKFZP564K112","Alazami Syndrome"]
[null,"LBR","","DHCR14B, TDRD18","Hydrops-Ectopic Calcification-Moth-Eaten Skeletal Dysplasia"]
[null,"LEMD3","","MAN1","Buschke-Ollendorff Syndrome"]
[null,"LFNG","","SCDO3","Spondylocostal Dysostosis Type 3"]
[null,"LHX3","","","Pituitary Hormone Deficiency Combined Type 3"]
[null,"LHX4","","GSH4","Lhx4-Related Combined Pituitary Hormone Deficiency"]
[null,"LIFR","","CD118","Stuve-Wiedemann Syndrome"]
[null,"LMNA","LMN1, CMD1A, LGMD1B, PRO1, LMNL1","HGPS, MADA","Emery-Dreifuss Muscular Dystrophy Type 2"]
[null,"LMX1B","NPS1","","Nail-Patella Syndrome"]
[null,"LONP1","PRSS15","LONHS, HLON, PIM1","Codas Syndrome"]
[null,"LPIN2","","KIAA0249","Majeed Syndrome"]
[null,"LRP4","","MEGF7, CLSS, LRP-4, SOST2","Cenani-Lenz Syndactyly Syndrome"]
[null,"LRP5","LRP7, OPPG, EVR1","LR3, BMND1, HBM, OPS, OPTA1, VBCH2, EVR4","Endosteal Hyperostosis Worth Type"]
[null,"LTBP2","LTBP3, C14ORF141","","Microspherophakia"]
[null,"LTBP3","LTBP2","","Platyspondyly With Amelogenesis Imperfecta"]
[null,"LZTR1","","LZTR-1, BTBD29","Noonan Syndrome"]
[null,"MAFB","KRML","","Multicentric Carpotarsal Osteolysis Syndrome"]
[null,"MAN2B1","MANB","LAMAN","Lysosomal Alpha-Mannosidosis"]
[null,"MANBA","","","Lysosomal Beta-Mannosidosis"]
[null,"MAP2K1","PRKMK1","MEK1, MAPKK1","Cardiofaciocutaneous Syndrome"]
[null,"MAP2K2","PRKMK2","MEK2","Cardiofaciocutaneous Syndrome"]
[null,"MAP3K7","TAK1","MEKK7","Frontometaphyseal Dysplasia"]
[null,"MATN3","","EDM5, HOA","Multiple Epiphyseal Dysplasia Type 5"]
[null,"MBTPS2","KFSD","S2P","Palmoplantar Keratoderma Mutilating With Periorificial Keratotic Plaques X-Linked"]
[null,"MECOM","MDS1, EVI1","MDS1-EVI1, PRDM3, KMT8E","Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia"]
[null,"MEGF8","EGFL4, C19ORF49","SBP1, FLJ22365","Carpenter Syndrome"]
[null,"MEOX1","","MOX1","Klippel-Feil Anomaly"]
[null,"MESP2","","SCDO2, BHLHC6","Spondylocostal Dysostosis Type 2"]
[null,"MET","","HGFR, RCCP2, DFNB97","Hepatocellular Carcinoma"]
[null,"MGP","","","Keutel Syndrome"]
[null,"MKS1","MKS","FLJ20345, POC12, BBS13","Bardet-Biedl Syndrome Type 13"]
[null,"MMP13","","CLG3","Metaphyseal Anadysplasia Type 1"]
[null,"MMP2","CLG4, CLG4A","TBE-1","Multicentric Osteolysis Nodulosis And Arthropathy"]
[null,"MMP9","CLG4B","","Metaphyseal Anadysplasia 2"]
[null,"MNX1","HLXB9","HB9, HOXHB9, SCRA1","Currarino Syndrome"]
[null,"MSX2","PFM1","CRS2, FPP, HOX8, MSH, PFM","Craniosynostosis Type 2"]
[null,"MYCN","NMYC","BHLHE37, N-MYC, MYCNOT","Feingold Syndrome Type 1"]
[null,"MYH3","","MYHC-EMB, MYHSE1, HEMHC, SMHCE","Distal Arthrogryposis Type 2A"]
[null,"MYO18B","","BK125H2.1","Klippel-Feil Syndrome 4 Autosomal Recessive With Nemaline Myopathy And Facial Dysmorphism"]
[null,"NAGLU","","NAG","Mucopolysaccharidosis Type 3B"]
[null,"NANS","","SAS","Infantile-Onset Severe Developmental Delay And Skeletal Dysplasia"]
[null,"NBAS","","NAG","Acute Liver Failure Alf In Infancy And Childhood; Short Stature Optic Nerve Atrophy And Pelger-Huet Anomaly"]
[null,"NEK1","","NY-REN-55, KIAA1901","Short Rib-Polydactyly Syndorme Type Ii"]
[null,"NEU1","NEU","","Sialidosis"]
[null,"NF1","","","Neurofibromatosis Type 1"]
[null,"NFIX","","NF1A","Marshall-Smith Syndrome"]
[null,"NIPBL","","IDN3, DKFZP434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, SCC2","Cornelia De Lange Syndrome Type 1"]
[null,"NKX3-2","BAPX1","NKX3B, NKX3.2","Spondylo-Megaepiphyseal-Metaphyseal Dysplasia"]
[null,"NOG","SYNS1, SYM1","","Nog-Related-Symphalangism Spectrum Disorder"]
[null,"NOTCH1","TAN1","","Left Ventricular Outflow Tract Obstruction"]
[null,"NOTCH2","","","Hajdu-Cheney Syndrome"]
[null,"NPR2","ANPRB, NPRB, AMDM","GUCY2B, ANPB, GC-B","Acromesomelic Dysplasia Maroteaux Type"]
[null,"NRAS","","N-RAS","Noonan Syndrome Type 6"]
[null,"NSD1","STO","ARA267, FLJ22263, KMT3B","Sotos Syndrome"]
[null,"NSDHL","","XAP104, H105E3, SDR31E1","Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects"]
[null,"OBSL1","","KIAA0657","3-M Syndrome 2"]
[null,"OCRL","","OCRL1, DENT-2","Lowe Oculocerebrorenal Syndrome"]
[null,"OFD1","CXORF5, RP23","71-7A, JBTS10","Joubert Syndrome Type 10"]
[null,"ORC1","ORC1L","HSORC1, PARC1","Meier-Gorlin Syndrome 1"]
[null,"ORC4","ORC4L","HSORC4, ORC4P","Meier-Gorlin Syndrome 2"]
[null,"ORC6","ORC6L","","Meier-Gorlin Syndrome 3"]
[null,"OSGEP","","PRSMG1, GCPL1, OSGEP1, KAE1, TCS3","Nephrotic Syndrome With Primary Microcephaly"]
[null,"OSTM1","","HSPC019, GL","Osteopetrosis Autosomal Recessive 5"]
[null,"OTX2","","","Microphthalmia Syndromic Type 5"]
[null,"P3H1","LEPRE1","GROS1, LEPRECAN, MGC117314","Osteogenesis Imperfecta Type Viii"]
[null,"P4HB","PO4DB, ERBA2L","PDIA1, PROHB, DSI, GIT, PDI, PO4HB, P4HBETA","Cole-Carpenter Syndrome"]
[null,"PALB2","","FLJ21816, FANCN","Fanconi Anemia Complementation Group N"]
[null,"PAM16","","MAGMAS, TIM16, TIMM16","Spondylometaphyseal Dysplasia Megarbane-Dagher-Melki Type"]
[null,"PAPSS2","","ATPSK2","Spondyloepimetaphyseal Dysplasia Pakistani Type"]
[null,"PAX3","WS1","HUP2","Waardenburg Syndrome Type 1"]
[null,"PCGF2","ZNF144, RNF110","MEL-18","Craniofacial Neurological Cardiovascular And Skeletal Features"]
[null,"PCNT","PCNT2","KEN, KIAA0402, PCN, PCNTB, SCKL4","Microcephalic Osteodysplastic Primordial Dwarfism Type Ii"]
[null,"PCYT1A","PCYT1","CT, CTPCT, CCTALPHA","Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy"]
[null,"PDE3A","","CGI-PDE","Hypertension And Brachydactyly Syndrome"]
[null,"PDE4D","DPDE3","","Acrodysostosis"]
[null,"PEX14","","","Peroxisome Biogenesis Disorder Complementation Group K"]
[null,"PEX19","PXF","HK33, D1S2223E, PMP1, PMPI, PXMP1","Zellweger Syndrome"]
[null,"PEX5","PXR1","PTS1R","Zellweger Syndrome"]
[null,"PEX7","","PTS2R, RD","Peroxisome Biogenesis Disorder Complementation Group 11"]
[null,"PGM3","","AGM1, DKFZP434B187, PAGM","Immunodeficiency 23"]
[null,"PHEX","HYP, HPDR","PEX, HPDR1, HYP1, XLH","Hypophosphatemic Rickets X-Linked Dominant"]
[null,"PIGV","","FLJ20477","Hyperphosphatasia With Mental Retardation"]
[null,"PIK3CA","","PI3K","Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome Somatic  3"]
[null,"PISD","","DJ858B16.2, PSDC","Liberfarb Syndrome"]
[null,"PITX1","BFT","PTX1, POTX","Homeotic Arm-To-Leg Transformation Associated With Genomic Rearrangements At The Pitx1 Locus"]
[null,"PITX2","IRID2, IHG2, RIEG, RIEG1, RGS","IGDS, RS, BRX1, OTLX2, ARP1","Axenfeld-Rieger Syndrome Type 1"]
[null,"PLCB4","","","Auriculocondylar Syndrome"]
[null,"PLEKHM1","","KIAA0356","Osteopetrosis Autosomal Dominant 3"]
[null,"PLK4","STK18","SAK","Microcephaly Growth Failure And Retinopathy"]
[null,"PLOD1","LLH, PLOD","LH1","Ehlers-Danlos Syndrome Kyphoscoliotic Form"]
[null,"PLOD2","","LH2","Bruck Syndrome Type 2"]
[null,"PLS3","","T-PLASTIN","Bone Mineral Density Quantitative Trait Locus 18"]
[null,"POC1A","WDR51A","DKFZP434C245","Primordial Dwarfism"]
[null,"POLA1","POLA, NSX","P180","Van Esch-Odriscoll Syndrome"]
[null,"POLR1A","","DKFZP586M0122, FLJ21915, RPO1-4, RPA1, RPA190","Acrofacial Dysostosis Cincinnati Type"]
[null,"POLR1C","","RPA40, RPA39, RPA5, RPAC1, AC40, RPC40","Polr1C-Related Leukodystrophy"]
[null,"POLR1D","","RPAC2, RPA16, RPO1-3, RPA9, MGC9850, AC19","Treacher Collins Syndrome Type 2"]
[null,"POLR3A","","RPC1, RPC155, HRPC155, C160","Autosomal Recessive Wiedemann Rautenstrauch Syndrome"]
[null,"POLR3B","","RPC2, FLJ10388, C128","Hypomyelination-Hypogonadotropic Hypogonadism-Hypodontia Syndrome"]
[null,"POP1","","","Anauxetic Dysplasia 2"]
[null,"POR","","CYPOR, FLJ26468","Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency"]
[null,"POU1F1","PIT1","GHF-1, POU1F1A, PIT-1","Pou1F1-Related Combined Pituitary Hormone Deficiency"]
[null,"PPIB","","CYPB, OI9, PPIASE, B, CYP-S1, SCYLP","Osteogenesis Imperfecta Type Ix"]
[null,"PPP3CA","CALN, CALNA","CNA1, PPP2B","Severe Neurodevelopmental Disease With Seizures"]
[null,"PRKAR1A","PRKAR1, TSE1","CNC1","Acrodysostosis"]
[null,"PRMT7","","FLJ10640, KIAA1933","Pseudohypoparathyroidism-Like Disorder"]
[null,"PROP1","","","Prop1-Related Combined Pituitary Hormone Deficiency"]
[null,"PTDSS1","","KIAA0024, PSSA, PSS1","Lenz-Majewski Hyperostotic Dwarfism"]
[null,"PTH1R","PTHR, PTHR1","","Chondrodysplasia Blomstrand Type"]
[null,"PTHLH","","PTHRP, HHM, PLP, PTHR","Brachydactyly Type E2"]
[null,"PTPN11","NS1","BPTP3, SH-PTP2, SHP-2, PTP2C, SHP2","Noonan Syndrome 1"]
[null,"PUF60","","FIR, SIAHBP1, ROBPI","Puf60 Syndrome"]
[null,"PYCR1","","P5C","Cutis Laxa Autosomal Recessive Type Iib"]
[null,"RAB23","","","Acrocephalopolysyndactyly Type 2"]
[null,"RAB33B","","DKFZP434G099","Smith-Mccort Dysplasia 2"]
[null,"RAD21","","KIAA0078, HHR21, SCC1","Cohesinopathy"]
[null,"RAD51C","","RAD51L2, FANCO","Fanconi Anemia Complementation Group 0"]
[null,"RAF1","","RAF-1, C-RAF, CRAF","Noonan Syndrome 5"]
[null,"RALA","RAL","","Hiatt-Neu-Cooper Neurodevelopmental Syndrome"]
[null,"RASA2","","GAP1M","Noonan Syndrome"]
[null,"RBBP8","SCKL2","CTIP, RIM, COM1","Jawad Syndrome"]
[null,"RBM8A","RBM8","ZNRP, BOV-1A, BOV-1B, BOV-1C, RBM8B, Y14","Thrombocytopenia-Absent Radius Syndrome"]
[null,"RBPJ","IGKJRB1, RBPSUH","SUH, IGKJRB, RBPJK, KBF2, RBP-J, CBF1","Adams Oliver Syndrome"]
[null,"RECQL4","","RECQ4","Baller-Gerold Syndrome"]
[null,"RIPPLY2","C6ORF159","DJ237I15.1","Spondylocostal Dysostosis 6 Autosomal Recessive"]
[null,"RIT1","RIT","RIBB, ROC1, MGC125864, MGC125865","Noonan Syndrome 8"]
[null,"RMRP","CHH","RMRPR, RRP2, NME1","Omenn Syndrome"]
[null,"RNU4ATAC","","RNU4ATAC1, U4ATAC","Microcephalic Osteodysplastic Primordial Dwarfism Type I"]
[null,"ROR2","NTRKR2, BDB, BDB1","","Brachydactyly Type B1"]
[null,"RPGRIP1L","","KIAA1005, CORS3, JBTS7, MKS5, NPHP8, FTM, PPP1R134","Meckel Syndrome Type 5"]
[null,"RRAS","","R-RAS","Atypical Noonan Syndrome"]
[null,"RSPRY1","","KIAA1972","Progressive Spondyloepimetaphyseal Dysplasia"]
[null,"RTTN","","DKFZP434G145","Bilateral Diffuse Polymicrogyria"]
[null,"RUNX2","CCD, CBFA1, CCD1","AML3, PEBP2A1, PEBP2AA1","Cleidocranial Dysplasia"]
[null,"SALL1","TBS","HSAL1, ZNF794","Townes-Brocks Syndrome"]
[null,"SALL4","","DJ1112F19.1, ZNF797","Duane-Radial Ray Syndrome"]
[null,"SBDS","","CGI-97, FLJ10917, SDS, SWDS, SDO1","Shwachman-Diamond Syndrome"]
[null,"SC5D","SC5DL","","Lathosterolosis"]
[null,"SEC24D","","KIAA0755","Syndromic Osteogenesis Imperfecta"]
[null,"SERPINF1","PEDF","EPC-1, PIG35","Osteogenesis Imperfecta Type Vi"]
[null,"SERPINH1","CBP1, CBP2, SERPINH2","HSP47","Osteogenesis Imperfecta Type X"]
[null,"SETBP1","","SEB, KIAA0437","Schinzel-Giedion Midface Retraction Syndrome"]
[null,"SETD2","","HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A","Setd2-Associated Overgrowth Syndrome"]
[null,"SF3B4","","SAP49, SF3B49, HSH49","Acrofacial Dysostosis 1 Nager Type"]
[null,"SFRP4","","FRPHE, FRP-4, FRPHE, FRZB-2","Pyle Disease"]
[null,"SGMS2","","MGC26963, SMS2","Calvarial Doughnut Lesions With Bone Fragility"]
[null,"SGSH","","HSS, MPS3A, SFMD","Mucopolysaccharidosis Type 3A"]
[null,"SH3BP2","","RES4-23, CRBM","Cherubism"]
[null,"SH3PXD2B","KIAA1295","FLJ20831","Frank-Ter Haar Syndrome"]
[null,"SHH","HPE3, HLP3","HHG1, SMMCI, TPT, TPTPS, MCOPCB5","Microphthalmia Isolated With Coloboma Type 5"]
[null,"SHOC2","","KIAA0862, SOC2, SUR-8, SOC-2, SUR8","Noonan-Like Syndrome With Loose Anagen Hair"]
[null,"SHOX","","PHOG, GCFX, SS, SHOXY","Langer Mesomelic Dysplasia"]
[null,"SIX5","DMAHP","","Branchiootorenal Syndrome Type 2"]
[null,"SKI","","","Shprintzen-Goldberg Craniosynostosis Syndrome"]
[null,"SLC10A7","C4ORF13","MGC25043, DKFZP566M114, DKFZP313H0531, DKFZP779O2438","Chondrodysplasia With Multiple Dislocations And Amelogenesis Imperfecta"]
[null,"SLC17A5","SIASD","AST, SD, ISSD, NSD, SIALIN, SLD","Salla Disease"]
[null,"SLC26A2","DTD","DTDST","Multiple Epiphyseal Dysplasia Type 4"]
[null,"SLC29A3","","ENT3, FLJ11160","Histiocytosis-Lymphadenopathy Plus Syndrome"]
[null,"SLC34A3","","NPTIIC, FLJ38680","Hypophosphatemic Rickets With Hypercalciuria Hereditary"]
[null,"SLC35D1","","UGTREL7, KIAA0260","Schneckenbecken Dysplasia"]
[null,"SLC39A13","","FLJ25785","Spondyloepimetaphyseal Dysplasia With Abnormal Dentition"]
[null,"SLCO2A1","SLC21A2, MATR1","PGT, OATP2A1","Hypertrophic Osteoarthropathy Primary Autosomal Recessive 2"]
[null,"SLX4","BTBD12","KIAA1784, KIAA1987, FANCP","Fanconi Anemia Complementation Group P"]
[null,"SMAD2","MADH2","MADR2, JV18-1","Congenital Heart Disease"]
[null,"SMAD3","MADH3","JV15-2, HST17436","Smad3-Related Loeys-Dietz Syndrome"]
[null,"SMAD4","MADH4","DPC4","Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome"]
[null,"SMARCA2","SNF2L2","BAF190, HSNF2A, HBRM, STH1P, SNF2LA, BRM, SNF2, SWI2","Nicolaides-Baraitser Syndrome"]
[null,"SMARCA4","SNF2L4","HSNF2B, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786","Rhabdoid Tumor Predisposition Syndrome 2"]
[null,"SMARCAL1","","HHARP, HARP","Schimke Immunoosseous Dysplasia"]
[null,"SMARCB1","SNF5L1","BAF47, INI1, SNR1, HSNFS, SFH1P, RDT, PPP1R144, SNF5","Rhabdoid Predisposition Syndrome 1"]
[null,"SMARCE1","","BAF57","Coffin Siris"]
[null,"SMC1A","SMC1L1","DXS423E, KIAA0178, SB1.8, SMCB","Epileptic Encephalopathy"]
[null,"SMC3","CSPG6","HCAP, BAM, SMC3L1, BAMACAN","Cornelia De Lange Syndrome Type 3"]
[null,"SNRPB","SNRPB1","COD, SMB/SMB', SM-B/B', SNRNP-B","Cerebro-Costo-Mandibular Syndrome"]
[null,"SNX10","","","Osteopetrosis Autosomal Recessive 8"]
[null,"SOS1","GINGF","HGF, GF1","Noonan Syndrome 4"]
[null,"SOST","","VBCH, DAND6","Craniodiaphyseal Dysplasia Autosomal Dominant"]
[null,"SOX11","","","Mental Retardation Autosomal Dominant 27"]
[null,"SOX2","","","Microphthalmia Syndromic Type 3"]
[null,"SOX3","PHP","","Mental Retardation X-Linked With Panhypopituitarism Mental Retardation X-Linked With Isolated Growth Hormone Deficiency Included"]
[null,"SOX9","CMD1, CMPD1","SRA1","Campomelic Dysplasia"]
[null,"SP7","","OSTERIX, OSX","Osteogenesis Imperfecta Type Xii"]
[null,"SPARC","ON","ONT, BM-40","Osteogenesis Imperfecta Type Xvii"]
[null,"SQSTM1","PDB3, OSIL","P62, P60, P62B, A170","Myopathy Distal With Rimmed Vacuoles"]
[null,"SRCAP","","KIAA0309, EAF1, SWR1, DOMO1","Floating-Harbor Syndrome"]
[null,"SRP54","","","Syndromic Neutropenia With Shwachman-Diamond-Like Features"]
[null,"STAG2","","SA-2, SCC3B, SA2","Stag2-Related Developmental Delay With Microcephaly And Congenital Anomalies"]
[null,"STAMBP","","AMSH","Microcephaly-Capillary Malformation Mic-Cap Syndrome"]
[null,"STAT5B","","","Growth Hormone Insensitivity With Immunodeficiency"]
[null,"SUMF1","","FGE, UNQ3037","Sulfatidosis Juvenile Austin Type"]
[null,"TAB2","MAP3K7IP2","KIAA0733","Congenital Heart Disease Nonsyndromic 2"]
[null,"TALDO1","","","Transaldolase Deficiency"]
[null,"TAPT1","","FLJ90013","Complex Lethal Osteochondrodysplasia"]
[null,"TBCE","KCS, HRD","KCS1, PAC2","Hypoparathyroidism-Retardation-Dysmorphism Syndrome"]
[null,"TBX15","TBX14","","Cousin Syndrome; Craniofacial Dysmorphism Hypoplasia Of Scapula And Pelvis And Short Stature"]
[null,"TBX19","","DJ747L4.1, TPIT","Acth Deficiency Isolated"]
[null,"TBX2","","","Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction"]
[null,"TBX3","UMS","TBX3-ISO, XHL","Ulnar-Mammary Syndrome"]
[null,"TBX4","","","Posterior Amelia With Pelvic And Pulmonary Hypoplasia"]
[null,"TBX5","HOS","","Holt-Oram Syndrome"]
[null,"TBX6","","","Spondylocostal Dysostosis 5"]
[null,"TBXAS1","","CYP5, CYP5A1, THAS, TXS, TXAS, TS","Ghosal Hematodiaphyseal Syndrome"]
[null,"TCF12","","HEB, HTF4, HST17266, BHLHB20, P64","Coronal Craniosynostosis"]
[null,"TCIRG1","","TIRC7, OC-116, OC116, ATP6N1C, ATP6I, A3, ATP6V0A3","Osteopetrosis Autosomal Recessive 1"]
[null,"TCOF1","","TREACLE, TCS","Treacher Collins Syndrome Type 1"]
[null,"TCTN3","C10ORF61","DKFZP564D116, TECT3, JBTS18","Mohr-Majewski Syndrome"]
[null,"TENT5A","C6ORF37, FAM46A","FLJ20037","Osteogenesis Imperfecta Type Xviii"]
[null,"TGDS","","TDPGD, SDR2E1","Catel Manzke Syndrome"]
[null,"TGFB1","TGFB, DPD1","CED, TGFBETA","Camurati-Engelmann Disease"]
[null,"TGFB2","","","Loeys-Dietz Syndrome Type 4"]
[null,"TGFB3","ARVD1, ARVD","","Loeys-Dietz Syndrome"]
[null,"TGFBR1","MSSE, ESS1","ALK-5, ACVRLK4, ALK5, TBRI, TBR-I","Loeys-Dietz Syndrome"]
[null,"TGFBR2","MFS2","TBRII, TBR-II","Loeys-Dietz Syndrome 2"]
[null,"THPO","MGDF","TPO, MPLLG","Thrombocythemia 1"]
[null,"THRA","THRA1, THRA2, ERBA1","EAR-7.1/EAR-7.2, THRA3, AR7, ERBA, NR1A1, TRALPHA","Hypothyroidism Congenital Nongoitrous 6"]
[null,"TMEM165","","TMPT27, TPARL, GDT1, SLC64A1","Congenital Disorder Of Glycosylation Type Iik"]
[null,"TMEM216","CORS2, MKS2","MGC13379, HSPC244, JBTS2","Joubert Syndrome 2"]
[null,"TMEM38B","C9ORF87","FLJ10493, BA219P18.1, D4ERTD89E, TRIC-B","Osteogenesis Imperfecta Type Xiv"]
[null,"TMEM67","MKS3","MGC26979, JBTS6, NPHP11","Nephronophthisis Type 11"]
[null,"TNFRSF11A","PDB2, LOH18CR1","RANK, CD265, FEO, ODFR, TRANCE-R","Familial Expansile Osteolysis"]
[null,"TNFRSF11B","OPG","OCIF, TR1","Paget Disease Of Bone 5 Juvenile-Onset"]
[null,"TNFSF11","","TRANCE, RANKL, OPGL, ODF, CD254","Osteopetrosis Autosomal Recessive 2"]
[null,"TONSL","NFKBIL2","IKBR","Spondyloepimetaphyseal Dysplasia Sponastrime Type"]
[null,"TOP3A","TOP3","ZGRF7","Bloom Syndrome Like Disorder"]
[null,"TP63","TP73L, TP53L, TP53CP","P51, SHFM4, EEC3, P63, P73L, OFC8, KET, P73H, NBP, P53CP","Limb-Mammary Syndrome"]
[null,"TRAF3IP1","","MIP-T3, DKFZP434F124, MIPT3, IFT54, FAP116","Senior-Loken Syndrome 9"]
[null,"TRAPPC2","SEDL","TRS20, SEDT, MIP-2A, ZNF547L, HYP38334","Spondyloepiphyseal Dysplasia Tarda"]
[null,"TREM2","","TREM-2, TREM2A, TREM2B, TREM2C","Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2"]
[null,"TRIM37","MUL","KIAA0898, POB1, TEF3","Mulibrey Nanism"]
[null,"TRIP11","","CEV14, TRIP230, GMAP-210, GMAP210","Achondrogenesis Type 1A"]
[null,"TRMT10A","RG9MTD2","MGC27034, TRM10","Microcephaly Short Stature And Impaired Glucose Metabolism 1"]
[null,"TRPS1","","LGCR, GC79","Tricho-Rhino-Phalangeal Syndrome Type 1"]
[null,"TRPV4","","OTRPC4, TRP12, VROAC, VRL-2, VR-OAC, CMT2C","Spondylometaphyseal Dysplasia Kozlowski Type"]
[null,"TRPV6","ECAC2","CAT1","Transient Neonatal Hyperparathyroidism"]
[null,"TTC21B","","FLJ11457, JBTS11, NPHP12, IFT139B, THM1, FAP60, FLA17","Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly"]
[null,"TUBGCP6","","GCP6, KIAA1669, DJ402G11.6","Microcephaly And Chorioretinopathy With Or Without Mental Retardation"]
[null,"TWIST1","ACS3, BPES3, TWIST, CRS","SCS, H-TWIST, BPES2, BHLHA38, CRS1","Saethre-Chotzen Syndrome"]
[null,"TYROBP","PLOSL","DAP12, PLO-SL, KARAP","Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1"]
[null,"UFSP2","C4ORF20","FLJ11200","Spondyloepimetaphyseal Dysplasia Di Rocco Type"]
[null,"VDR","","NR1I1, PPP1R163","Rickets Vitamin D-Dependent Type 2A"]
[null,"VIPAS39","C14ORF133","VIPAR, VPS16B, SPE-39, SPE39, HSPE-39","Arthrogryposis Renal Dysfunction And Cholestasis 2"]
[null,"WDR19","","PWDMP, KIAA1638, FLJ23127, ORF26, DYF-2, OSEG6, IFT144, NPHP13, FAP66","Cranioectodermal Dysplasia 4"]
[null,"WDR35","","MGC33196, KIAA1336, IFT121, IFTA1, FAP118","Cranioectodermal Dysplasia 2"]
[null,"WNT1","INT1","","Osteogenesis Imperfecta"]
[null,"WNT10B","","WNT-12, SHFM6","Split-Hand/Foot Malformation Type 6"]
[null,"WNT5A","","HWNT5A","Wnt5A-Related Robinow Syndrome Autosomal Dominant"]
[null,"WNT7A","","WNT-7A","Wnt7A- Associated Skeletal Malformations Syndrome"]
[null,"XRCC2","","FANCU","Fanconi Anemia Complementation Group U"]
[null,"XRCC4","","","Primordial Dwarfism"]
[null,"XYLT1","","XT-I, PXYLT1","Desbuquois Dysplasia 2"]
[null,"XYLT2","","XT-II, PXYLT2","Spondyloocular Syndrome"]
[null,"ZMPSTE24","","FACE-1, STE24P, STE24, HGPS, PRO1","Lethal Restrictive Dermopathy Zmpste24-Related"]
[null,"ZSWIM6","","KIAA1577","Acromelic Frontonasal Dysostosis"]

{"sheet":"Retinal Dystrophy","index":8,"n_rows":316,"n_cols":5,"rows_kept":316,"cut":false,"hidden":true,"merged":[[0,1,0,4]]}
[null,"Retinal Dystrophy Panel"]
[null,"Gene","Previous Symbols","Alias Symbols","Disease Association"]
[null,"ABCA4","STGD1, ABCR, RP19, STGD","FFM, ARMD2, CORD3","Retinitis Pigmentosa 19"]
[null,"ABCC6","ARA, PXE","MRP6, EST349056, MLP1, URG7","Pseudoxanthoma Elasticum"]
[null,"ABCD1","ALD","AMN, ALDP, ADRENOLEUKODYSTROPHY","Adrenoleukodystrophy X-Linked"]
[null,"ABHD12","C20ORF22","DKFZP434P106, DJ965G21.2, BEM46L2, ABHD12A","Polyneuropathy Hearing Loss Ataxia Retinitis Pigmentosa And Cataract"]
[null,"ACO2","","ACONM","Infantile Cerebellar-Retinal Degeneration"]
[null,"ADAM9","CORD9","MDC9, KIAA0021, MCMP, MLTNG","Cone-Rod Dystrophy 9"]
[null,"ADAMTS18","ADAMTS21","","Microcornea Myopic Chorioretinal Atrophy And Telecanthus"]
[null,"ADGRV1","USH2C, MASS1, GPR98","DKFZP761P0710, KIAA0686, FEB4, VLGR1","Usher Syndrome Type Iic"]
[null,"ADIPOR1","","PAQR1, ACDCR1",""]
[null,"AGBL5","","FLJ21839, CCP5","Retinitis Pigmentosa 75"]
[null,"AHI1","","FLJ20069, ORF1, JBTS3","Joubert Syndrome"]
[null,"AIPL1","LCA4","","Leber Congenital Amaurosis 4"]
[null,"ALMS1","","KIAA0328","Alstrom Syndrome"]
[null,"AMACR","","RACE, P504S","Bile Acid Synthesis Defect Congenital 4"]
[null,"ARHGEF18","","P114-RHOGEF, KIAA0521, MGC15913, P114RHOGEF","Retinitis Pigmentosa 78"]
[null,"ARL13B","ARL2L1","DKFZP761H079, JBTS8","Joubert Syndrome 8"]
[null,"ARL2BP","RP66","BART1, BART","Retinitis Pigmentosa 82 With Or Without Situs Inversus"]
[null,"ARL3","","ARFL3","Joubert Syndrome"]
[null,"ARL6","BBS3","RP55","Bardet-Biedl Syndrome"]
[null,"ARMC9","","FLJ12584, KIAA1868, ARM, KU-MEL-1","Joubert Syndrome 30"]
[null,"ARR3","","ARRX","Myopia 26 X-Linked Female-Limited"]
[null,"ARSG","","KIAA1001","Usher Syndrome Type Iv"]
[null,"ATF6","","ATF6A","Achromatopsia 7"]
[null,"ATOH7","","MATH5, BHLHA13","Retinal Non-Attachment Congenital Non-Syndromic"]
[null,"B9D1","","B9, EPPB9, MKS9, MKSR-1","Meckel Syndrome 9"]
[null,"B9D2","","MGC4093, MKS10, MKSR-2","Meckel Syndrome Type 10"]
[null,"BBIP1","NCRNA00081","BA348N5.3, BBIP10, BBS18","Bardet-Biedl Syndrome 18"]
[null,"BBS1","","FLJ23590","Bardet-Biedl Syndrome Type 1"]
[null,"BBS10","C12ORF58","FLJ23560","Bardet-Biedl Syndrome Type 10"]
[null,"BBS12","C4ORF24","FLJ35630, FLJ41559","Bardet-Biedl Syndrome Type 12"]
[null,"BBS2","BBS","","Bardet-Biedl Syndrome Type 2"]
[null,"BBS4","","","Bardet-Biedl Syndrome Type 4"]
[null,"BBS5","","DKFZP762I194","Bardet-Biedl Syndrome Type 5"]
[null,"BBS7","","FLJ10715, BBS2L1","Bardet-Biedl Syndrome Type 7"]
[null,"BBS9","","B1, PTHB1","Bardet-Biedl Syndrome Type 9"]
[null,"BEST1","VMD2","BMD, BEST, RP50","Vitreoretinochoroidopathy"]
[null,"C1QTNF5","","CTRP5, DKFZP586B0621, LORD","Late-Onset Retinal Degeneration"]
[null,"CA4","RP17","CAIV, CAR4","Retinitis Pigmentosa 17"]
[null,"CABP4","","CSNB2B","Cone-Rod Synaptic Disorder Congenital Nonprogressive"]
[null,"CACNA1F","CSNB2, AIED","CAV1.4, JM8, JMC8, CSNBX2, CORDX3, CSNB2A, OA2","Aland Island Eye Disease"]
[null,"CACNA2D4","","","Retinal Cone Dystrophy 4"]
[null,"CAPN5","VRNI","NCL-3, HTRA3, ADNIV","Vitreoretinopathy Neovascular Inflammatory"]
[null,"CC2D2A","","KIAA1345, MKS6, JBTS9","Joubert Syndrome 9"]
[null,"CDH23","DFNB12, USH1D","CDHR23","Usher Syndrome Type 1D"]
[null,"CDH3","","CDHP, PCAD","Eem Syndrome"]
[null,"CDHR1","PCDH21","KIAA1775, CORD15, RP65","Cone-Rod Dystrophy 15"]
[null,"CEP104","KIAA0562","GLYBP, RP1-286D6.4, CFAP256, ROC22, JBTS25","Joubert Syndrome"]
[null,"CEP120","CCDC100","FLJ36090","Joubert Syndrome 31"]
[null,"CEP164","","KIAA1052, NPHP15","Nephronophthisis 15"]
[null,"CEP19","C3ORF34","MGC14126","Morbid Obesity And Spermatogenic Failure"]
[null,"CEP250","CEP2","C-NAP1","Cone-Rod Dystrophy And Hearing Loss 2"]
[null,"CEP290","","KIAA0373, FLJ13615, 3H11AG, RD16, NPHP6, JBTS5, SLSN6, LCA10, MKS4, BBS14, CT87, POC3","Joubert Syndrome Type 5"]
[null,"CEP41","TSGA14","DKFZP762H1311, FLJ22445, JBTS15","Joubert Syndrome 15"]
[null,"CEP78","C9ORF81","FLJ12643","Cone-Rod Dystrophy And Hearing Loss 1"]
[null,"CEP83","CCDC41","NY-REN-58, NPHP18","Infantile Nephronophthisis And Intellectual Disability"]
[null,"CERKL","RP26","","Retinitis Pigmentosa 26"]
[null,"CFAP410","C21ORF2","YF5, A2, LRRC76","Axial Spondylometaphyseal Dysplasia"]
[null,"CFAP418","C8ORF37","FLJ30600, CORD16, RP64, BBS21, FAP418, MOT25","Cone-Rod Dystrophy 16"]
[null,"CHM","TCD, DXS540","REP-1","Choroideremia"]
[null,"CIB2","DFNB48, USH1J","KIP2","Usher Syndrome Type 1"]
[null,"CISD2","ZCD2, WFS2","MINER1, ERIS, NAF-1","Wolfram Syndrome Type 2"]
[null,"CLN3","BTS","JNCL, BTN1","Neuronal Ceroid Lipofuscinosis Type 3"]
[null,"CLN5","","","Neuronal Ceroid Lipofuscinosis Type 5"]
[null,"CLN6","","FLJ20561, HST18960, NCLF","Ceroid Lipofuscinosis Neuronal 6"]
[null,"CLN8","EPMR, C8ORF61","FLJ39417, TLCD6","Neuronal Ceroid Lipofuscinosis Type 8"]
[null,"CLRN1","USH3, USH3A, RP61","","Retinitis Pigmentosa 61"]
[null,"CNGA1","CNCG1, CNCG","RCNC1, RCNCA, CNG1, RP49","Retinitis Pigmentosa 49"]
[null,"CNGA3","CNCG3, ACHM2","CCNC1, CCNCA, CNG3","Achromatopsia 2"]
[null,"CNGB1","CNCG2, CNCG3L","RCNC2, RCNCB, GARP, GAR1, CNGB1B, RP45","Retinitis Pigmentosa 45"]
[null,"CNGB3","ACHM3, ACHM1, RMCH","","Achromatopsia 3"]
[null,"CNNM4","ACDP4","KIAA1592","Jalili Syndrome"]
[null,"COL11A1","COLL6, DFNA37","STL2, CO11A1","Stickler Syndrome Type Ii"]
[null,"COL11A2","DFNA13, DFNB53","HKE5","Autosomal Recessive Otospondylomegaepiphyseal Dysplasia"]
[null,"COL18A1","KNO","KS, KNO1","Knobloch Syndrome Type I"]
[null,"COL2A1","SEDC, AOM","STL1","Kniest Dysplasia"]
[null,"COL9A1","","","Multiple Epiphyseal Dysplasia Type 6"]
[null,"COL9A2","EDM2","MED","Stickler Syndrome Type V"]
[null,"COL9A3","","IDD, MED, EDM3, FLJ90759, DJ885L7.4.1","Multiple Epiphyseal Dysplasia Type 3"]
[null,"COQ2","","CL640, FLJ26072","Coenzyme Q10 Deficiency"]
[null,"CPE","","","Bvd Syndrome"]
[null,"CPLANE1","C5ORF42","FLJ13231, JBTS17, HUG","Joubert Syndrome"]
[null,"CRB1","RP12","LCA8","Crb1-Related Leber Congenital Amaurosis And Retinitis Pigmentosa"]
[null,"CRPPA","ISPD","HCG_1745121, ISPD, NIP","Walker-Warburg Syndrome"]
[null,"CRX","CORD2","CRD, LCA7, OTX3","Crx-Related Leber Congenital Amaurosis Leber Congenital Amaurosis 7"]
[null,"CSPP1","","FLJ22490, CSPP, JBTS21, CSPP-L","Joubert Syndrome With Or Without Jeune Asphyxiating Thoracic Dystrophy"]
[null,"CTC1","C17ORF68","FLJ22170, AAF132","Cerebroretinal Microangiopathy With Calcifications And Cysts"]
[null,"CTNNA1","","CAP102","Macular Dystrophy Patterned 2"]
[null,"CTNNB1","CTNNB","BETA-CATENIN, ARMADILLO","Neurodevelopmental Disorder With Spastic Diplegia And Visual Defects"]
[null,"CTSD","CPSD","CLN10","Neuronal Ceroid Lipofuscinosis Type 10"]
[null,"CWC27","SDCCAG10","NY-CO-10, SDCCAG-10","Retinitis Pigmentosa Skeletal Anomalies And Intellectual Disability"]
[null,"CYP4V2","","CYP4AH1","Bietti Crystalline Corneoretinal Dystrophy"]
[null,"DHDDS","","HDS, FLJ13102, DS, RP59, HCIT","Retinitis Pigmentosa 59"]
[null,"DHX38","DDX38","PRP16, KIAA0224, HPRP16, PRPF16","Retinitis Pigmentosa 84"]
[null,"DNAJC5","CLN4","FLJ00118, FLJ13070, DNAJC5A","Ceroid Lipofuscinosis Neuronal 4B Autosomal Dominant"]
[null,"DRAM2","TMEM77","MGC54289, PRO180, WWFQ154, RP5-1180E21.1","Cone-Rod Dystrophy 21"]
[null,"DTHD1","","FLJ16686",""]
[null,"DYNC2H1","DNCH2","HDHC11, DHC2, DHC1B, DYH1B","Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly"]
[null,"EFEMP1","DHRD, FBNL","S1-5, FBLN3, MTLV","Doyne Honeycomb Retinal Dystrophy"]
[null,"ELOVL4","STGD2, STGD3, SCA34","CT118","Ichthyosis Spastic Quadriplegia And Mental Retardation"]
[null,"EMC1","KIAA0090","","Cerebellar Atrophy Visual Impairment And Psychomotor Retardation"]
[null,"ESPN","DFNB36","","Usher Syndrome Type 1M"]
[null,"EXOSC2","","HRRP4P, RRP4P, RRP4, P7","Short Stature Hearing Loss Retinitis Pigmentosa And Distinctive Facies"]
[null,"EYS","C6ORF180, EGFL11, RP25, EGFL10, C6ORF178, C6ORF179","DJ1018A4.2, BA166P24.2, SPAM, BA307F22.3, DJ303F19.1, BA74E24.1","Retinitis Pigmentosa 25"]
[null,"FAM161A","RP28","FLJ13305","Retinitis Pigmentosa 28"]
[null,"FDXR","ADXR","ADR","Auditory Neuropathy And Optic Atrophy"]
[null,"FLVCR1","AXPC1","FLVCR, MFSD7B, PCA, SLC49A1","Ataxia Posterior Column With Retinitis Pigmentosa"]
[null,"FRMD7","NYS, NYS1","FLJ43346","Nystagmus 1 Congenital X-Linked"]
[null,"FZD4","EVR1","CD344","Exudative Vitreoretinopathy 1"]
[null,"GNAT1","","CSNBAD3","Night Blindness Congenital Stationary Type 1G"]
[null,"GNAT2","","ACHM4","Achromatopsia 4"]
[null,"GNB3","","","Gnb3 Autosomal-Recessive Congenital Stationary Night Blindness."]
[null,"GNPTG","GNPTAG, C16ORF27","CAB56184, C316G12.3","Mucolipidosis Type Iii Complementation Group C"]
[null,"GPR143","OA1","","Albinism Ocular Type I"]
[null,"GPR179","GPR158L1","CSNB1E","Night Blindness Congenital Stationary Type 1E"]
[null,"GRK1","RHOK","GPRK1, RK","Oguchi Disease 2"]
[null,"GRM6","","GPRC1F, MGLU6, MGLUR6, CSNB1B","Night Blindness Congenital Stationary Type 1B"]
[null,"GUCA1A","GUCA, GUCA1, C6ORF131","GCAP, GCAP1, COD3, DJ139D8.6, CORD14","Cone Dystrophy 3"]
[null,"GUCY2D","CORD6, LCA, GUC2D, GUC1A4","RETGC, RETGC-1, ROS-GC1, CYGD, LCA1","Leber Congenital Amaurosis 1"]
[null,"HARS1","USH3B, HARS","HISRS","Usher Syndrome"]
[null,"HGSNAT","TMEM76","FLJ32731, HGNAT","Mucopolysaccharidosis Type 3C"]
[null,"HK1","","","Hk1-Related Developmental Disorder Monoallelic"]
[null,"HMX1","","H6, NKX5-3","Oculoauricular Syndrome"]
[null,"IDH3A","","","Retinitis Pigmentosa 90"]
[null,"IDH3B","","RP46","Retinitis Pigmentosa 46"]
[null,"IFT140","WDTC2","GS114, KIAA0590","Mainzer-Saldino Syndrome"]
[null,"IFT172","","SLB, WIM, OSM-1, NPHP17, BBS20","Mainzer-Saldino Syndrome"]
[null,"IFT27","RABL4","RAYL, BBS19, FAP156","Bardet-Biedl Syndrome 19"]
[null,"IFT81","CDV1","CDV-1R, MGC4027","Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly"]
[null,"IMPDH1","RP10","SWSS2608, LCA11","Retinitis Pigmentosa 10"]
[null,"IMPG1","SPACR","IPM150, GP147","Macular Dystrophy Vitelliform 4"]
[null,"IMPG2","","IPM200, RP56, SPACRCAN","Macular Dystrophy Vitelliform 5"]
[null,"INPP5E","JBTS1","PPI5PIV, CORS1, PHARBIN","Joubert Syndrome Type 1"]
[null,"INVS","NPHP2","","Nephronophthisis 2"]
[null,"IQCB1","","KIAA0036, NPHP5, SLSN5","Senior-Loken Syndrome 5"]
[null,"JAG1","AGS, JAGL1","AHD, AWS, HJ1, CD339","Alagille Syndrome"]
[null,"KATNIP","KIAA0556","JBTS26","Joubert Syndrome 26"]
[null,"KCNJ13","","KIR7.1, KIR1.4, LCA16","Leber Congenital Amaurosis 16"]
[null,"KCNV2","","KV8.2","Retinal Cone Dystrophy 3B"]
[null,"KIAA0586","","TALPID3, JBTS23","Joubert Syndrome"]
[null,"KIAA0753","","OFIP, MNR","Orofaciodigital Syndrome Xv"]
[null,"KIAA1549","","","Retinitis Pigmentosa 86"]
[null,"KIF11","KNSL1","EG5, HKSP, TRIP5","Autosomal-Dominant Microcephaly Associated With Lymphedema And/Or Chorioretinopathy"]
[null,"KIF7","","JBTS12","Acrocallosal Syndrome"]
[null,"KIZ","NCRNA00153, C20ORF19, PLK1S1","HT013","Retinitis Pigmentosa 69"]
[null,"KLHL7","","KLHL6, SBBI26, RP42","Crisponi/Ciss1-Like Phenotype Associated With Early-Onset Retinitis Pigmentosa"]
[null,"LAMA1","LAMA","","Cerebellar Dysplasia With Cysts With Or Without Retinal Dystrophy"]
[null,"LCA5","C6ORF152","","Leber Congenital Amaurosis 5"]
[null,"LRAT","","LCA14","Leber Congenital Amaurosis"]
[null,"LRIT3","","FLJ44691, FIGLER4, CSNB1F","Autosomal-Recessive Complete Congenital Stationary Night Blindness"]
[null,"LRP2","","GP330, DBS","Donnai-Barrow Syndrome"]
[null,"LRP5","LRP7, OPPG, EVR1","LR3, BMND1, HBM, OPS, OPTA1, VBCH2, EVR4","Endosteal Hyperostosis Worth Type"]
[null,"LZTFL1","","BBS17","Bardet-Biedl Syndrome 17"]
[null,"MAK","","DJ417M14.2, RP62","Retinitis Pigmentosa 62"]
[null,"MERTK","","MER, RP38, C-EYK, TYRO12","Retinitis Pigmentosa 38"]
[null,"MFN2","","CPRP1, KIAA0214, MARF, CMT2A2","Mfn2-Related Developmental Disorder"]
[null,"MFRP","","FLJ30570, RD6, NNO2, C1QTNF5","Microphthalmia Isolated Type 5"]
[null,"MFSD8","CLN7","MGC33302","Mfsd8-Related Neuronal Ceroid-Lipofuscinosis"]
[null,"MKKS","BBS6","","Mckusick-Kaufman Syndrome"]
[null,"MKS1","MKS","FLJ20345, POC12, BBS13","Bardet-Biedl Syndrome Type 13"]
[null,"MMACHC","","DKFZP564I122, CBLC","Methylmalonic Aciduria And Homocystinuria Cblc Type"]
[null,"MTTP","MTP","ABL","Abetalipoproteinemia"]
[null,"MVK","","LRBP, MK","Hyper-Igd Syndrome"]
[null,"MYO7A","USH1B, DFNB2, DFNA11","NSRD2","Usher Syndrome Type I"]
[null,"NAGLU","","NAG","Mucopolysaccharidosis Type 3B"]
[null,"NDP","EVR2","NORRIN","Norrie Disease"]
[null,"NEK2","","NLK1, NEK2A, RP67, PPP1R111","Retinitis Pigmentosa 67"]
[null,"NMNAT1","LCA9","NMNAT, PNAT1","Leber Congenital Amaurosis"]
[null,"NPHP1","NPH1","JBTS4, SLSN1","Bardet-Biedl Syndrome"]
[null,"NPHP3","","NPH3, KIAA2000, FLJ30691, FLJ36696, MKS7, SLSN3, CFAP31","Nephronophthisis Type 3"]
[null,"NPHP4","","SLSN4, KIAA0673, POC10","Nephronophthisis Type 4"]
[null,"NR2E3","","PNR, RD7, RP37","Enhanced S-Cone Syndrome"]
[null,"NR2F1","ERBAL3, TFCOUP1","EAR-3, COUP-TFI, TCFCOUP1, SVP44, COUPTF1","Bosch-Boonstra Optic Atrophy Syndrome"]
[null,"NRL","","D14S46E, RP27, NRL-MAF","Retinitis Pigmentosa 27"]
[null,"NYX","CSNB1, CSNB4","CLRP, CSNB1A","Night Blindness Congenital Stationary Type 1A"]
[null,"OAT","","HOGA","Gyrate Atrophy Of Choroid And Retina"]
[null,"OCA2","D15S12, P, EYCL3, EYCL2","BEY2, EYCL, BEY, BEY1","Albinism Oculocutaneous Type Ii"]
[null,"OFD1","CXORF5, RP23","71-7A, JBTS10","Joubert Syndrome Type 10"]
[null,"OPA1","","NTG, KIAA0567, FLJ12460, NPG, MGM1","Behr Syndrome"]
[null,"OPA3","","FLJ22187, MGA3","3-Methylglutaconic Aciduria Type Iii"]
[null,"OPN1SW","BCP","BOP, CBT","Tritanopia"]
[null,"OTX2","","","Microphthalmia Syndromic Type 5"]
[null,"P3H2","LEPREL1","FLJ10718, MLAT4","Myopia High With Cataract And Vitreoretinal Degeneration"]
[null,"PANK2","C20ORF48, NBIA1","HSS, FLJ11729, PKAN, HARP","Neurodegeneration With Brain Iron Accumulation 1"]
[null,"PAX2","","","Renal-Coloboma Syndrome"]
[null,"PCARE","C2ORF71","FLJ34931, RP54","Retinitis Pigmentosa 54"]
[null,"PCDH15","USH1F, DFNB23","CDHR15","Usher Syndrome Type Id"]
[null,"PCYT1A","PCYT1","CT, CTPCT, CCTALPHA","Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy"]
[null,"PDE6A","PDEA","RP43","Retinitis Pigmentosa 43"]
[null,"PDE6B","PDEB","CSNB3, RD1, RP40, CSNBAD2","Retinitis Pigmentosa 40"]
[null,"PDE6C","","PDEA2, ACHM5, COD4","Cone Dystrophy 4"]
[null,"PDE6D","","JBTS22","Joubert Syndrome 22"]
[null,"PDE6G","PDEG","RP57","Retinitis Pigmentosa 57"]
[null,"PDE6H","","","Retinal Cone Dystrophy 3 Pde6H"]
[null,"PDSS1","TPRT","TPT, COQ1, COQ1A","Coenzyme Q10 Deficiency Primary 2"]
[null,"PDSS2","C6ORF210","BA59I9.3, COQ1B","Coenzyme Q10 Deficiency Primary 3"]
[null,"PDZD7","PDZK7, DFNB57","FLJ23209, BA108L7.8","Usher Syndrome Type Iic"]
[null,"PEX1","ZWS1, ZWS","","Peroxisome Biogenesis Disorder Complementation Group 1"]
[null,"PEX10","","RNF69","Peroxisome Biogenesis Disorder Complementation Group 7"]
[null,"PEX11B","","","Peroxisome Biogenesis Disorder 14B"]
[null,"PEX12","","","Peroxisome Biogenesis Disorder Complementation Group 3"]
[null,"PEX13","","","Peroxisome Biogenesis Disorder Complementation Group 13"]
[null,"PEX14","","","Peroxisome Biogenesis Disorder Complementation Group K"]
[null,"PEX16","","","Peroxisome Biogenesis Disorder Complementation Group 9"]
[null,"PEX19","PXF","HK33, D1S2223E, PMP1, PMPI, PXMP1","Zellweger Syndrome"]
[null,"PEX2","PXMP3","PMP35, PAF-1, RNF72, ZWS3","Peroxisome Biogenesis Disorder Complementation Group 5"]
[null,"PEX26","","FLJ20695","Zellweger Syndrome"]
[null,"PEX3","","","Peroxisome Biogenesis Disorder Complementation Group 12"]
[null,"PEX5","PXR1","PTS1R","Zellweger Syndrome"]
[null,"PEX6","","PXAAA1, PAF-2","Peroxisome Biogenesis Disorder Complementation Group 4"]
[null,"PEX7","","PTS2R, RD","Peroxisome Biogenesis Disorder Complementation Group 11"]
[null,"PHYH","","PAHX, RD, PHYH1","Refsum Disease Classic"]
[null,"PISD","","DJ858B16.2, PSDC","Liberfarb Syndrome"]
[null,"PITPNM3","CORD5","NIR1, RDGBA3, ACKR6","Cone-Rod Dystrophy 5"]
[null,"PLA2G5","","","Fleck Retina Familial Benign"]
[null,"PLK4","STK18","SAK","Microcephaly Growth Failure And Retinopathy"]
[null,"PNPLA6","","NTE, SWS, IPLA2DELTA, SPG39","Laurence-Moon Syndrome"]
[null,"POC1B","WDR51B","TUWD12, FLJ14923","Autosomal-Recessive Cone-Rod Dystrophy"]
[null,"POMGNT1","MEB","FLJ20277, MGAT1.2, LGMD2O","Muscular Dystrophy-Dystroglycanopathy Limb-Girdle Type C3"]
[null,"PPT1","PPT","CLN1, INCL","Neuronal Ceroid Lipofuscinosis Type 1"]
[null,"PRCD","","RP36","Retinitis Pigmentosa 36"]
[null,"PRDM13","","PFM10",""]
[null,"PROM1","PROML1, MCDR2, STGD4","AC133, CD133, RP41, CORD12","Stargardt Disease 4"]
[null,"PRPF3","RP18","PRP3, HPRP3, SNRNP90","Retinitis Pigmentosa 18"]
[null,"PRPF31","RP11","NY-BR-99, PRP31, HPRP31, SNRNP61","Retinitis Pigmentosa 11"]
[null,"PRPF4","","PRP4P, HPRP4, HPRP4P, PRP4, SNRNP60","Retinitis Pigmentosa 70"]
[null,"PRPF6","C20ORF14","TOM, BB152O15.1, ANT-1, U5-102K, PRP6, HPRP6, SNRNP102, RP60","Retinitis Pigmentosa 60"]
[null,"PRPF8","RP13","PRPC8, PRP8, HPRP8, SNRNP220","Prpf8-Related Developmental Disorder Monoallelic"]
[null,"PRPH2","RP7, RDS","TSPAN22, RD2, CACD2","Fundus Albipunctatus Retinitis Punctata Albescens Included"]
[null,"PRPS1","DFN2","CMTX5, DFNX1","Optic Atrophy Hearing Loss And Peripheral Neuropathy Autosomal Recessive"]
[null,"RAB28","","","Cone-Rod Dystrophy 18"]
[null,"RAX2","RAXL1","MGC15631, ARMD6, CORD11","Macular Degeneration Age-Related 6"]
[null,"RBP3","","D10S64, D10S65, D10S66, RP66","Retinitis Pigmentosa 66"]
[null,"RBP4","","","Microphthalmia Isolated With Coloboma 10"]
[null,"RCBTB1","","FLJ10716, CLLD7, CLLL7","Retinal Dystrophy With Or Without Extraocular Anomalies"]
[null,"RD3","C1ORF36","LCA12","Leber Congenital Amaurosis 12"]
[null,"RDH11","","MDT1, SDR7C1, ARSDR1","Retinal Dystrophy Juvenile Cataracts And Short Stature Syndrome"]
[null,"RDH12","","FLJ30273, SDR7C2, LCA13, RP53","Leber Congenital Amaurosis 13"]
[null,"RDH5","RDH1","HSD17B9, SDR9C5","Fundus Albipunctatus Retinitis Punctata Albescens Included"]
[null,"REEP6","C19ORF32","DP1L1, FLJ25383, YIP2F","Retinitis Pigmentosa 77"]
[null,"RGR","","RP44","Retinitis Pigmentosa 44"]
[null,"RGS9","","PERRS, RGS9L, MGC26458, MGC111763","Prolonged Electroretinal Response Suppression"]
[null,"RGS9BP","","FLJ45744, PERRS, R9AP","Prolonged Electroretinal Response Suppression"]
[null,"RHO","RP4","OPN2, CSNBAD1","Night Blindness Congenital Stationary Autosomal Dominant 1"]
[null,"RIMS1","RAB3IP2, CORD7","RIM, KIAA0340, RIM1","Cone-Rod Dystrophy 7"]
[null,"RLBP1","","CRALBP","Fundus Albipunctatus Retinitis Punctata Albescens Included"]
[null,"ROM1","","TSPAN23, ROM","Retinitis Pigmentosa 7"]
[null,"RP1","","DCDC4A, ORP1","Retinitis Pigmentosa 1"]
[null,"RP1L1","","DCDC4B","Occult Macular Dystrophy"]
[null,"RP2","","TBCCD2, NME10, NM23-H10","Retinitis Pigmentosa 2"]
[null,"RPE65","RP20","LCA2, RD12, BCO3","Leber Congenital Amaurosis"]
[null,"RPGR","CRD, RP3, RP15, COD1","CORDX1","Retinitis Pigmentosa X-Linked And Sinorespiratory Infections With Or Without Deafness"]
[null,"RPGRIP1","RPGRIP","RGI1, LCA6, CORD13","Leber Congenital Amaurosis 6"]
[null,"RPGRIP1L","","KIAA1005, CORS3, JBTS7, MKS5, NPHP8, FTM, PPP1R134","Meckel Syndrome Type 5"]
[null,"RS1","RS","XLRS1","Retinoschisis 1 X-Linked Juvenile"]
[null,"RTN4IP1","","NIMP","Early-Onset Recessive Optic Neuropathy"]
[null,"SAG","","ARRESTIN, RP47","Oguchi Disease 1"]
[null,"SAMD11","","MGC45873",""]
[null,"SCAPER","ZNF291","ZFP291","Autosomal Recessive Mental Retardation"]
[null,"SCLT1","","HCAP-1A, FLJ30655",""]
[null,"SDCCAG8","","NY-CO-8, CCCAP, SLSN7, NPHP10, BBS16","Senior-Loken Syndrome 7"]
[null,"SEMA4A","SEMAB","SEMB, FLJ12287, CORD10","Cone-Rod Dystrophy 10"]
[null,"SGSH","","HSS, MPS3A, SFMD","Mucopolysaccharidosis Type 3A"]
[null,"SLC24A1","","NCKX1, NCKX, RODX, KIAA0702, HST17412, CSNB1D","Night Blindness Congenital Stationary Type 1D"]
[null,"SLC25A46","","","Neuropathy Hereditary Motor And Sensory Type Vib With Optic Atrophy"]
[null,"SLC45A2","MATP","AIM-1, OCA4","Albinism Oculocutaneous Type Iv"]
[null,"SLC7A14","","KIAA1613, PPP1R142","Retinitis Pigmentosa 68"]
[null,"SNRNP200","ASCC3L1, RP33","U5-200KD, HELIC2, KIAA0788, BRR2","Retinitis Pigmentosa 33"]
[null,"SPATA7","LCA3","HSD3","Leber Congenital Amaurosis 3"]
[null,"SPP2","","SPP24",""]
[null,"SRD5A3","","FLJ13352, SRD5A2L, SRD5A2L1","Congenital Disorders Of Glycosylation"]
[null,"TCTN1","","FLJ21127, TECT1, JBTS13","Joubert Syndrome And Related Disorders"]
[null,"TCTN2","C12ORF38","FLJ12975, TECT2, MKS8, JBTS24","Joubert Syndrome And Related Disorders"]
[null,"TCTN3","C10ORF61","DKFZP564D116, TECT3, JBTS18","Mohr-Majewski Syndrome"]
[null,"TEAD1","TCF13, AA","TEF-1","Sveinsson Chorioretinal Atrophy"]
[null,"TIMM8A","DFN1","DDP, MTS","Jensen Syndrome"]
[null,"TIMP3","SFD","","Sorsby Fundus Dystrophy"]
[null,"TMEM107","","MGC10744, JBTS29, MKS13","Orofaciodigital Syndrome Xvi"]
[null,"TMEM126A","","DKFZP586C1924, OPA7","Optic Atrophy 7 With Or Without Auditory Neuropathy"]
[null,"TMEM138","","HSPC196, JBTS16","Joubert Syndrome 16"]
[null,"TMEM216","CORS2, MKS2","MGC13379, HSPC244, JBTS2","Joubert Syndrome 2"]
[null,"TMEM231","","FLJ22167, ALYE870, PRO1886, JBTS20, MKS11","Meckel Syndrome Type 11"]
[null,"TMEM237","ALS2CR4","JBTS14","Joubert Syndrome 14"]
[null,"TMEM67","MKS3","MGC26979, JBTS6, NPHP11","Nephronophthisis Type 11"]
[null,"TOPORS","RP31","TP53BPL, LUN","Retinitis Pigmentosa 31"]
[null,"TPP1","CLN2, SCAR7","LPIC, TPP-1","Neuronal Ceroid Lipofuscinosis Type 2"]
[null,"TRAF3IP1","","MIP-T3, DKFZP434F124, MIPT3, IFT54, FAP116","Senior-Loken Syndrome 9"]
[null,"TREX1","AGS1","DRN3","Aicardi-Goutieres Syndrome 1 Dominant And Recessive"]
[null,"TRIM32","LGMD2H","HT2A, TATIP, BBS11","Bardet-Biedl Syndrome Type 11"]
[null,"TRPM1","MLSN1","LTRPC1, CSNB1C","Night Blindness Congenital Stationary Type 1C"]
[null,"TSPAN12","TM4SF12","NET-2","Exudative Vitreoretinopathy 5"]
[null,"TTC21B","","FLJ11457, JBTS11, NPHP12, IFT139B, THM1, FAP60, FLA17","Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly"]
[null,"TTC8","","BBS8, RP51","Bardet-Biedl Syndrome Type 8"]
[null,"TTLL5","KIAA0998","","Cone-Rod Dystrophy 19"]
[null,"TTPA","AVED","","Ataxia With Vitamin E Deficiency"]
[null,"TUB","","RD5","Retinal Dystrophy And Obesity"]
[null,"TUBB4B","TUBB2C","BETA2","Leber Congenital Amaurosis With Early-Onset Deafness"]
[null,"TUBGCP4","","76P, FLJ14797","Autosomal-Recessive Microcephaly With Chorioretinopathy."]
[null,"TUBGCP6","","GCP6, KIAA1669, DJ402G11.6","Microcephaly And Chorioretinopathy With Or Without Mental Retardation"]
[null,"TULP1","RP14","TUBL1, LCA15","Retinitis Pigmentosa 14"]
[null,"TYR","","OCAIA, OCA1A, OCA1","Oculocutaneous Albinism Type 1"]
[null,"TYRP1","TYRP, CAS2","GP75, CATB, TRP, B-PROTEIN, OCA3","Oculocutaneous Albinism Type 3"]
[null,"USH1C","DFNB18","PDZ73, HARMONIN, NY-CO-37, NY-CO-38, PDZ-73, AIE-75, PDZD7C","Usher Syndrome Type Ic"]
[null,"USH1G","","SANS, FLJ33924, ANKS4A","Usher Syndrome Type Ig"]
[null,"USH2A","USH2","RP39","Retinitis Pigmentosa 39"]
[null,"VCAN","CSPG2","PG-M","Wagner Vitreoretinopathy"]
[null,"VPS13B","CHS1, COH1","","Cohen Syndrome"]
[null,"WDPCP","C2ORF86","HFRTZ, FRITZ, BBS15, CPLANE5","Bardet-Biedl Syndrome Type 15"]
[null,"WDR19","","PWDMP, KIAA1638, FLJ23127, ORF26, DYF-2, OSEG6, IFT144, NPHP13, FAP66","Cranioectodermal Dysplasia 4"]
[null,"WFS1","DFNA6, DFNA14, DFNA38","DIDMOAD, WFS","Wolfram-Like Syndrome Autosomal Dominant"]
[null,"WHRN","DFNB31","CIP98, USH2D, PDZD7B","Usher Syndrome Type Iid"]
[null,"YME1L1","","YME1L","Optic Atrophy 11"]
[null,"ZNF408","","FLJ12827","Retinitis Pigmentosa 72"]
[null,"ZNF423","","KIAA0760, OAZ, HOAZ, EBFAZ, ZFP104, NPHP14, JBTS19","Joubert Syndrome With Oculorenal Defect"]
[null,"ZNF513","","FLJ32203, RP58, ZFP513","Retinitis Pigmentosa 58"]

{"sheet":"Movement Disorders","index":9,"n_rows":611,"n_cols":5,"rows_kept":611,"cut":false,"hidden":true,"merged":[[0,1,0,4]]}
[null,"Movement Disorders Panel"]
[null,"Gene","Previous Symbols","Alias Symbols","Disease Association"]
[null,"AARS2","AARSL","KIAA1270, BA444E17.1","Combined Oxidative Phosphorylation Deficiency 8"]
[null,"AASS","","LORSDH, LKRSDH","Hyperlysinemia"]
[null,"ABCA2","ABC2","","Intellectual Developmental Disorder With Poor Growth And With Or Without Seizures Or Ataxia"]
[null,"ABCB7","ABC7","EST140535, ATM1P, ASAT","Anemia Sideroblastic With Ataxia"]
[null,"ABCD1","ALD","AMN, ALDP, ADRENOLEUKODYSTROPHY","Adrenoleukodystrophy X-Linked"]
[null,"ABHD12","C20ORF22","DKFZP434P106, DJ965G21.2, BEM46L2, ABHD12A","Polyneuropathy Hearing Loss Ataxia Retinitis Pigmentosa And Cataract"]
[null,"ACO2","","ACONM","Infantile Cerebellar-Retinal Degeneration"]
[null,"ACOX1","","PALMCOX","Adrenoleukodystrophy Pseudoneonatal"]
[null,"ACP5","","TRAP, HPAP","Spondyloenchondrodysplasia With Immune Dysregulation"]
[null,"ACTB","","","Baraitser-Winter Syndrome 1"]
[null,"ADAR","IFI4, G1P1","ADAR1","Dyschromatosis Symmetrica Hereditaria 1"]
[null,"ADCY5","","AC5","Dyskinesia Familial With Facial Myokymia"]
[null,"ADPRS","ADPRHL2","ARH3, FLJ20446","Neurodegeneration With Developmental Delay Ataxia And Axonal Neuropathy"]
[null,"ADSL","","","Adenylosuccinase Deficiency"]
[null,"AFG3L2","SCA28","SPAX5","Ataxia Spastic 5 Autosomal Recessive"]
[null,"AGTPBP1","","KIAA1035, NNA1, CCP1","Neurodegeneration Childhood-Onset With Cerebellar Atrophy"]
[null,"AHI1","","FLJ20069, ORF1, JBTS3","Joubert Syndrome"]
[null,"AIMP1","SCYE1","EMAPII, EMAP-2, P43","Leukodystrophy Hypomyelinating 3"]
[null,"ALDH18A1","GSAS, PYCS, SPG9","P5CS","Cutis Laxa Autosomal Dominant 3"]
[null,"ALDH3A2","SLS, ALDH10","FALDH","Sjoegren-Larsson Syndrome"]
[null,"ALDH5A1","","SSADH, SSDH","Succinate-Semialdehyde Dehydrogenase Deficiency"]
[null,"ALG1","","HMT-1, HMAT1, CDG1K, MAT-1","Congenital Disorder Of Glycosylation Type Ik"]
[null,"ALG13","GLT28D1, CXORF45","MDS031, YGL047W, FLJ23018, TDRD13, CDG1S","Congenital Disorder Of Glycosylation Type Is"]
[null,"ALG6","","","Congenital Disorder Of Glycosylation Type Ic"]
[null,"ALG8","","MGC2840","Congenital Disorder Of Glycosylation Type Ih"]
[null,"ALS2","ALS2CR6","","Amyotrophic Lateral Sclerosis 2 Juvenile"]
[null,"AMACR","","RACE, P504S","Bile Acid Synthesis Defect Congenital 4"]
[null,"AMPD2","","SPG63","Pontocerebellar Hypoplasia"]
[null,"AMT","","GCST, NKH","Glycine Encephalopathy"]
[null,"ANKLE2","KIAA0692","LEMD7, LEM4","Microcephaly 16 Primary Autosomal Recessive"]
[null,"ANO10","TMEM16K","FLJ10375, MGC47890, SCAR10","Spinocerebellar Ataxia Autosomal Recessive 10"]
[null,"ANO3","C11ORF25, TMEM16C","GENX-3947, DYT23","Dystonia 24"]
[null,"AP1S2","MRX59, MRXS5, PGS","SIGMA1B","X-Linked Intellectual Disability-Dandy-Walker Malformation-Basal Ganglia Disease-Seizures Syndrome"]
[null,"AP4B1","SPG47","BETA-4","Cerebral Palsy Spastic Quadriplegic Type 5"]
[null,"AP4E1","","AP-4-EPSILON, SPG51","Cerebral Palsy Spastic Quadriplegic Type 4"]
[null,"AP4M1","","MU-ARP2, MU-4, SPG50","Cerebral Palsy Spastic Quadriplegic Type 3"]
[null,"AP4S1","","CLA20, AP47B, SPG52","Cerebral Palsy Spastic Quadriplegic Type 6"]
[null,"AP5Z1","KIAA0415","SPG48, ZETA","Spastic Paraplegia 48 Autosomal Recessive"]
[null,"APTX","AXA1","FLJ20157, AOA, AOA1, EAOH, EOAHA","Ataxia With Oculomotor Apraxia 1"]
[null,"ARG1","","","Argininemia"]
[null,"ARL13B","ARL2L1","DKFZP761H079, JBTS8","Joubert Syndrome 8"]
[null,"ARL6","BBS3","RP55","Bardet-Biedl Syndrome"]
[null,"ARL6IP1","ARL6IP","AIP1, ARMER, KIAA0069, SPG61","Spastic Paraplegia 61 Autosomal Recessive"]
[null,"ARNT2","","KIAA0307, BHLHE1","Arnt2-Associated Hypopituitarism Post-Natal Microcephaly Visual And Renal Anomalies"]
[null,"ARSA","","","Arylsulfatase A Deficiency"]
[null,"ARX","MRXS1, PRTS, MRX76, MRX54, MRX43, MRX36, MRX29, MRX32, MRX33, MRX38, MRX87","ISSX, CT121, EIEE1","Partington Syndrome"]
[null,"ASNS","","","Asparagine Synthetase Deficiency"]
[null,"ASPA","","ASP, ACY2","Canavan Disease"]
[null,"ASXL1","","KIAA0978","Bohring-Opitz Syndrome"]
[null,"ATAD3A","","FLJ10709","Atad3A Disorder -  Global Developmental Delay Hypotonia Optic Atrophy Axonal Neuropathy And Hypertrophic Cardiomyopathy"]
[null,"ATCAY","","BNIP-H","Cerebellar Ataxia Cayman Type"]
[null,"ATL1","SPG3, SPG3A","FSP1, AD-FSP","Spastic Paraplegia 3 Autosomal Dominant"]
[null,"ATM","ATA, ATDC, ATC, ATD","TEL1, TELO1","Ataxia-Telangiectasia"]
[null,"ATP13A2","PARK9","HSA9947, CLN12","Spastic Paraplegia 78 Autosomal Recessive"]
[null,"ATP1A3","DYT12","","Alternating Hemiplegia Of Childhood"]
[null,"ATP2B3","SCAX1, CLA2","PMCA3, CFAP39","Spinocerebellar Ataxia X-Linked 1"]
[null,"ATP6AP2","ATP6IP2","M8-9, APT6M8-9, ATP6M8-9, PRR, RENR","Mental Retardation X-Linked With Epilepsy"]
[null,"ATP7A","MNK","","Spinal Muscular Atrophy Distal X-Linked 3"]
[null,"ATP7B","WND","","Wilson Disease"]
[null,"ATP8A2","","ATPIB, ML-1","Cerebellar Ataxia Mental Retardation And Dysequilibrium Syndrome 4"]
[null,"ATRX","RAD54, JMS, MRX52","XH2, XNP","Alpha-Thalassemia Mental Retardation Syndrome X-Linked Non-Deletion Type"]
[null,"AUH","","","3-Methylglutaconic Aciduria Type 1"]
[null,"B3GALT6","","BETA3GALT6","Spondyloepimetaphyseal Dysplasia With Joint Laxity Type 1"]
[null,"B4GALNT1","GALGT, SPG26","BETA1-4GALNAC-T","Spastic Paraplegia 26 Autosomal Recessive"]
[null,"BBS1","","FLJ23590","Bardet-Biedl Syndrome Type 1"]
[null,"BBS10","C12ORF58","FLJ23560","Bardet-Biedl Syndrome Type 10"]
[null,"BBS12","C4ORF24","FLJ35630, FLJ41559","Bardet-Biedl Syndrome Type 12"]
[null,"BBS2","BBS","","Bardet-Biedl Syndrome Type 2"]
[null,"BBS4","","","Bardet-Biedl Syndrome Type 4"]
[null,"BBS5","","DKFZP762I194","Bardet-Biedl Syndrome Type 5"]
[null,"BBS7","","FLJ10715, BBS2L1","Bardet-Biedl Syndrome Type 7"]
[null,"BBS9","","B1, PTHB1","Bardet-Biedl Syndrome Type 9"]
[null,"BCAP31","","DXS1357E, BAP31, 6C6-AG, CDM","Deafness Dystonia And Central Hypomyelination With Disorganization Of The Golgi Apparatus"]
[null,"BCKDHA","OVD1A","MSU","Maple Syrup Urine Disease"]
[null,"BCKDHB","","","Maple Syrup Urine Disease"]
[null,"BCOR","","FLJ20285, KIAA1575","Microphthalmia Syndromic Type 2"]
[null,"BCS1L","","HS.6719, BCS, H-BCS, BJS","Gracile Syndrome"]
[null,"BEAN1","SCA31","","Spinocerebellar Ataxia 31"]
[null,"BOLA3","","","Multiple Mitochondrial Dysfunctions Syndrome 2"]
[null,"BSCL2","GNG3LG, SPG17","SEIPIN","Spastic Paraplegia 17 Autosomal Dominant"]
[null,"BTD","","","Biotinidase Deficiency"]
[null,"BUB1B","","BUBR1, MAD3L, BUB1A, SSK1","Mosaic Variegated Aneuploidy Syndrome 1"]
[null,"C12ORF4","","","Mental Retardation Autosomal Recessive 66"]
[null,"C19ORF12","SPG43","MGC10922, DKFZP762D096, NBIA4, MPAN","Spastic Paraplegia 43 Autosomal Recessive"]
[null,"CA8","CALS","CARP","Cerebellar Ataxia Mental Retardation And Dysequilibrium Syndrome Type 3"]
[null,"CACNA1A","CACNL1A4, SCA6, MHP1, MHP","CAV2.1, EA2, APCA, HPCA, FHM","Epileptic Encephalopathy"]
[null,"CACNA1B","CACNL1A5","CAV2.2, CACNN","Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements"]
[null,"CACNA1D","CCHL1A2, CACNL1A2","CAV1.3, CACH3, CACN4","Primary Aldosteronism Seizures And Neurologic Abnormalities"]
[null,"CACNA1G","","CAV3.1, NBR13","Cacna1G-Related Developmental Disorder Monoallelic"]
[null,"CACNA2D2","","KIAA0558","Cerebellar Atrophy With Seizures And Variable Developmental Delay"]
[null,"CACNB4","","EJM4","Juvenile Myoclonic Epilepsy"]
[null,"CAMTA1","","KIAA0833","Cerebellar Ataxia Nonprogressive With Mental Retardation"]
[null,"CAPN1","","MUCANP, MUCL, CANP, CANPL1","Spastic Paraplegia 76 Autosomal Recessive"]
[null,"CASK","TNRC8","LIN2, CAGH39, FGS4","Early Infantile Epileptic Encephalopathy"]
[null,"CAV1","CAV","","Congenital Generalized Lipodystrophy Type 3"]
[null,"CC2D2A","","KIAA1345, MKS6, JBTS9","Joubert Syndrome 9"]
[null,"CCDC88C","KIAA1509","DAPLE, HKRP2, SCA40","Spinocerebellar Ataxia 40"]
[null,"CCT5","","KIAA0098","Neuropathy Hereditary Sensory With Spastic Paraplegia Autosomal Recessive"]
[null,"CD59","MIC11, MIN1, MSK21, MIN2, MIN3","16.3A5, EJ16, EJ30, EL32, G344, P18-20","Hemolytic Anemia Cd59-Mediated With Or Without Immune-Mediated Polyneuropathy"]
[null,"CEP120","CCDC100","FLJ36090","Joubert Syndrome 31"]
[null,"CEP290","","KIAA0373, FLJ13615, 3H11AG, RD16, NPHP6, JBTS5, SLSN6, LCA10, MKS4, BBS14, CT87, POC3","Joubert Syndrome Type 5"]
[null,"CEP41","TSGA14","DKFZP762H1311, FLJ22445, JBTS15","Joubert Syndrome 15"]
[null,"CFH","HF, HF1, HF2","HUS, FHL1, ARMS1, ARMD4","Hemolytic Uremic Syndrome Atypical Susceptibility To 1"]
[null,"CFHR1","HFL1, CFHL1, CFHR1P, HFL2, CFHL1P","H36-1, FHR1, CFHL, H36-2","Hemolytic Uremic Syndrome Atypical Susceptibility To 1"]
[null,"CFHR3","CFHL3","FHR-3, HLF4, FHR3, DOWN16","Hemolytic Uremic Syndrome Atypical Susceptibility To 1"]
[null,"CHCHD10","C22ORF16","N27C7-4, MIX17A","Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2"]
[null,"CHCHD2","C7ORF17","MIX17B, MNRR1","Parkinson Disease 22 Autosomal Dominant"]
[null,"CHMP1A","PRSM1, PCOLN3","KIAA0047, CHMP1, VPS46A","Pontocerebellar Hypoplasia And Microcephaly"]
[null,"CIT","","KIAA0949, STK21, CRIK, CITK","Primary Microcephaly"]
[null,"CLCN2","","CLC2, EJM6, CLC-2","Leukoencephalopathy With Ataxia"]
[null,"CLN5","","","Neuronal Ceroid Lipofuscinosis Type 5"]
[null,"CLN6","","FLJ20561, HST18960, NCLF","Ceroid Lipofuscinosis Neuronal 6"]
[null,"CLN8","EPMR, C8ORF61","FLJ39417, TLCD6","Neuronal Ceroid Lipofuscinosis Type 8"]
[null,"CLP1","","HEAB, HCLP1","Pontocerebellar Hypoplasia Type 10"]
[null,"CLPB","","HSP78, SKD3, FLJ13152, ANKCLB","3-Methylglutaconic Aciduria Type Vii With Cataracts Neurologic Involvement And Neutropenia"]
[null,"CLPP","","","Perrault Syndrome"]
[null,"COA7","C1ORF163, SELRC1","FLJ12439, RESA1","Spinocerebellar Ataxia Autosomal Recessive With Axonal Neuropathy 3"]
[null,"COASY","","DPCK, NBP, PPAT","Neurodegeneration With Brain Iron Accumulation"]
[null,"COG2","LDLC","","Congenital Disorder Of Glycosylation Type Iiq"]
[null,"COG5","GOLTC1","GTC90","Congenital Disorder Of Glycosylation Type Iii"]
[null,"COG8","","FLJ22315, DOR1","Congenital Disorder Of Glycosylation Type Iih"]
[null,"COL4A2","","FLJ22259, DKFZP686I14213","Porencephaly 2"]
[null,"COQ2","","CL640, FLJ26072","Coenzyme Q10 Deficiency"]
[null,"COQ4","","CGI-92","Coenzyme Q10 Deficiency Primary 7"]
[null,"COQ5","","MGC4767","Coenzyme Q10 Deficiency Primary 9"]
[null,"COQ6","","CGI-10","Coenzyme Q10 Deficiency Primary 6"]
[null,"COQ8A","CABC1, ADCK3","COQ8, SCAR9","Coenzyme Q10 Deficiency"]
[null,"COX10","","","Leigh Syndrome"]
[null,"COX15","","CEMCOX2","Cox15-Related Leigh Syndrome"]
[null,"COX20","FAM36A","FLJ43269","Mitochondrial Complex Iv Deficiency Nuclear Type 11"]
[null,"CP","","","Aceruloplasminemia Hypoceruloplasminemia Included"]
[null,"CPLANE1","C5ORF42","FLJ13231, JBTS17, HUG","Joubert Syndrome"]
[null,"CPT1C","","FLJ23809, CPTIC, CPT1P, CATL1","Spastic Paraplegia 73 Autosomal Dominant"]
[null,"CSF1R","FMS","C-FMS, CSFR, CD115","Brain Abnormalities Neurodegeneration And Dysosteosclerosis"]
[null,"CSTB","EPM1, STFB","CST6, PME","Unverricht-Lundborg Disease"]
[null,"CTBP1","","BARS","Ctbp1-Related Developmental Disorder Monoallelic"]
[null,"CTC1","C17ORF68","FLJ22170, AAF132","Cerebroretinal Microangiopathy With Calcifications And Cysts"]
[null,"CTDP1","","FCP1","Congenital Cataracts Facial Dysmorphism And Neuropathy Syndrome"]
[null,"CTNNB1","CTNNB","BETA-CATENIN, ARMADILLO","Neurodevelopmental Disorder With Spastic Diplegia And Visual Defects"]
[null,"CTSA","GSL, PPGB","","Galactosialidosis"]
[null,"CTSD","CPSD","CLN10","Neuronal Ceroid Lipofuscinosis Type 10"]
[null,"CWF19L1","","FLJ10998, HDRN1","Spinocerebellar Ataxia Autosomal Recessive 17"]
[null,"CYB5R3","DIA1","","Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase"]
[null,"CYP27A1","CYP27","CTX, CP27","Cerebrotendinous Xanthomatosis"]
[null,"CYP2U1","SPG56","SPG49","Hereditary Spastic Paraplegia"]
[null,"CYP7B1","SPG5A","","Spastic Paraplegia 5A Autosomal Recessive"]
[null,"DARS1","DARS","","Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity"]
[null,"DARS2","","FLJ10514, MTASPRS","Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation"]
[null,"DBT","","BCOADC-E2, BCKAD-E2, BCKDH-E2","Maple Syrup Urine Disease"]
[null,"DCAF17","C2ORF37","FLJ13096","Woodhouse-Sakati Syndrome"]
[null,"DCTN1","","","Perry Syndrome"]
[null,"DDHD1","SPG28","KIAA1705, PA-PLA1, PAPLA1, IPLA1A","Hereditary Spastic Paraplegia"]
[null,"DDHD2","SAMWD1","KIAA0725, SPG54, IPLA1?","Complex Hereditary Spastic Paraplegia"]
[null,"DDX3X","DDX3","DBX, HLP2, DDX14","Intellectual Developmental Disorder X-Linked Syndromic Snijders Blok Type"]
[null,"DHCR24","DCE","KIAA0018, SELADIN-1","Desmosterolosis"]
[null,"DHPS","","MIG13","Neurodevelopmental Disorder Of Hypusination"]
[null,"DLAT","DLTA","PDC-E2, E2","Pyruvate Dehydrogenase E2 Deficiency"]
[null,"DLD","LAD, GCSL","DLDH, E3, OGDC-E3","Dihydrolipoamide Dehydrogenase (E3) Deficiency"]
[null,"DNAJC12","","JDP1","Hyperphenylalaninemia Dystonia And Intellectual Disability"]
[null,"DNAJC19","","TIMM14, TIM14, PAM18","3-Methylglutaconic Aciduria Type V"]
[null,"DNAJC5","CLN4","FLJ00118, FLJ13070, DNAJC5A","Ceroid Lipofuscinosis Neuronal 4B Autosomal Dominant"]
[null,"DNAJC6","","KIAA0473, PARK19","Parkinson Disease 19A Juvenile-Onset"]
[null,"DNMT1","DNMT","MCMT, CXXC9","Neuropathy Hereditary Sensory Type Ie"]
[null,"DOCK3","","KIAA0299, MOCA, PBP","Neurodevelopmental Disorder With Impaired Intellectual Development Hypotonia And Ataxia"]
[null,"DPAGT1","DPAGT2, DPAGT","GPT, D11S366, DGPT, ALG7, CDG-IJ","Congenital Disorder Of Glycosylation Type Ij"]
[null,"DPH1","DPH2L, DPH2L1","OVCA1","Developmental Delay With Short Stature Dysmorphic Facial Featuresand Sparse Hair"]
[null,"DPM1","","MPDS, CDGIE","Congenital Disorders Of Glycosylation"]
[null,"DYNC1H1","DNECL, DNCL, DNCH1","DNCHC1, HL-3, P22, DHC1, CMT2O","Spinal Muscular Atrophy Lower Extremity-Predominant Ad"]
[null,"EARS2","","KIAA1970, MSE1, MTGLNRS","Combined Oxidative Phosphorylation Deficiency 12"]
[null,"EBF3","","COE3, DKFZP667B0210","Intellectual Disability Ataxia And Facial Dysmorphism"]
[null,"EEF2","EF2","EEF-2","Eef2-Related Developmental Disorder Monoallelic"]
[null,"EIF2B1","EIF2B","EIF-2BALPHA, EIF-2B, EIF2BA","Leukoencephalopathy With Vanishing White Matter"]
[null,"EIF2B2","","EIF2B, EIF-2BBETA","Leukoencephalopathy With Vanishing White Matter"]
[null,"EIF2B3","","EIF2BGAMMA, EIF-2B","Leukoencephalopathy With Vanishing White Matter"]
[null,"EIF2B4","","EIF2BDELTA, EIF-2B, DKFZP586J0119, EIF2B","Eif2B4-Related Leukoencephalopathy With Vanishing White Matter"]
[null,"EIF2B5","","EIF2BEPSILON, EIF-2B","Eif2B5-Related Leukoencephalopathy With Vanishing White Matter"]
[null,"ELOVL4","STGD2, STGD3, SCA34","CT118","Ichthyosis Spastic Quadriplegia And Mental Retardation"]
[null,"ELOVL5","SCA38","HELO1, DJ483K16.1","Spinocerebellar Ataxia 38"]
[null,"ELP2","STATIP1","FLJ10879, STIP","Autosomal Recessive Mental Retardation"]
[null,"EML1","EMAPL","EMAP, HUEMAP, ELP79","Band Heterotopia"]
[null,"ENTPD1","CD39","NTPDASE-1, ATPDASE, SPG64","Autosomal Recessive Mental Retardation"]
[null,"ERLIN1","C10ORF69, SPFH1","KE04, ERLIN-1, SPG62","Spastic Paraplegia 62 Autosomal Recessive"]
[null,"ERLIN2","C8ORF2, SPFH2, SPG18","NET32, ERLIN-2","Recessive Intellectual Disability-Motor Dysfunction-Multiple Joint Contractures Syndrome"]
[null,"ESCO2","RBS","EFO2","Roberts Syndrome"]
[null,"EVC","","DWF-1, EVC1","Acrofacial Dysostosis Weyers Type"]
[null,"EVC2","","LBN","Acrofacial Dysostosis Weyers Type"]
[null,"EXOSC3","","HRRP40P, RRP40P, RRP40, CGI-102, P10, HRRP-40","Pontocerebellar Hypoplasia Type 1"]
[null,"EXOSC8","","OIP2, RRP43, BA421P11.3, RRP43P, EAP2, P9, CIP3","Pontocerebellar Hypoplasia Type 1C"]
[null,"FA2H","FAXDC1, SPG35","FAAH, FLJ25287","Spastic Paraplegia 35 Autosomal Recessive"]
[null,"FAR1","MLSTD2","FLJ22728, SDR10E1","Severe Intellectual Disability Epilepsy And Cataracts"]
[null,"FARS2","FARS1","DJ236A3.1, MTPHERS","Neurometabolic Disorder Due To Fars2 Deficiency"]
[null,"FBXL4","","FBL4, FBL5","Fatal Encephalopathy Lactic Acidosis And Severe Mtdna Depletion In Muscle"]
[null,"FBXO7","","FBX7, FBX, PARK15","Parkinson Disease 15 Autosomal Recessive Early-Onset"]
[null,"FDXR","ADXR","ADR","Auditory Neuropathy And Optic Atrophy"]
[null,"FGF14","","FHF4, SCA27","Fgf14-Related Episodic Ataxia"]
[null,"FGFR1","FLT2, KAL2","H2, H3, H4, H5, CEK, FLG, BFGFR, N-SAM, CD331","Pfeiffer Syndrome"]
[null,"FITM2","C20ORF142","DJ881L22.2, FIT2","Siddiqi Syndrome"]
[null,"FLNA","FLN1, FLN, OPD2, OPD1","ABP-280","Melnick-Needles Syndrome"]
[null,"FLVCR1","AXPC1","FLVCR, MFSD7B, PCA, SLC49A1","Ataxia Posterior Column With Retinitis Pigmentosa"]
[null,"FMR1","POF1, POF","FMRP, FRAXA, MGC87458","Fragile X Syndrome"]
[null,"FOXG1","FKHL2, FOXG1B, FKHL4, FKH2, FKHL1, FOXG1C, FKHL3, FOXG1A","HFK2, QIN, BF1, HFK1, HFK3, HBF-3","Congenital Variant Of Rett Syndrome"]
[null,"FOXRED1","","H17","Mitochondrial Complex I Deficiency"]
[null,"FTL","","MGC71996, NBIA3","Hereditary Hyperferritinemia-Cataract Syndrome"]
[null,"FTO","","KIAA1752, MGC5149, ALKBH9","Growth Retardation Developmental Delay Coarse Facies And Early Death"]
[null,"FUCA1","","","Fucosidosis"]
[null,"FXN","FRDA","FA, FARR, X25, CYAY","Friedreich Ataxia"]
[null,"GAA","","","Glycogen Storage Disease Type Ii"]
[null,"GAD1","GAD","","Cerebral Palsy Spastic Quadriplegic Type 1"]
[null,"GALC","","","Krabbe Disease"]
[null,"GALT","","","Galactosemia"]
[null,"GAMT","","PIG2, TP53I2","Guanidinoacetate Methyltransferase Deficiency"]
[null,"GAN","","GAN1, KLHL16, GIG","Giant Axonal Neuropathy 1"]
[null,"GBA","GLUC","GBA1","Gaucher Disease Perinatal Lethal"]
[null,"GBA2","SPG46","KIAA1605, AD035, DKFZP762K054","Autosomal-Recessive Cerebellar Ataxia With Spasticity."]
[null,"GBE1","","","Glycogen Storage Disease Iv"]
[null,"GCDH","","ACAD5, GCD","Glutaricacidemia Type 1"]
[null,"GCH1","GCH, DYT5, DYT14","GTPCH1, DYT5A","Autosomal Dominant Dopa-Responsive Dystonia"]
[null,"GFAP","","FLJ45472","Alexander Disease"]
[null,"GFM1","","EFGM, GFM, EGF1, MTEF-G1","Combined Oxidative Phosphorylation Deficiency 1"]
[null,"GJA1","ODDD, GJAL","CX43, ODD, ODOD, SDTY3","Syndactyly Type 3"]
[null,"GJC2","GJA12","CX47, CX46.6, SPG44","Leukodystrophy Hypomyelinating 2"]
[null,"GLA","","GALA","Fabry Disease"]
[null,"GLB1","ELNR1","EBP","Gm1 Gangliosidosis Type 3"]
[null,"GLDC","","GCSP, NKH","Gldc-Related Glycine Encephalopathy"]
[null,"GLRX5","C14ORF87","PR01238, GRX5","Anemia Sideroblastic 3 Pyridoxine-Refractory"]
[null,"GLS","","KIAA0838, GLS1","Infantile Cataract Skin Abnormalities Glutamate Excess And Impaired Intellectual Development"]
[null,"GLYCTK","","HBEBP4, HBEBP2","D-Glyceric Aciduria"]
[null,"GM2A","","SAP-3","Gm2-Gangliosidosis Type Ab"]
[null,"GNAL","","","Dystonia 25"]
[null,"GNAO1","","G-ALPHA-O","Epileptic Encephalopathy"]
[null,"GNE","IBM2","UAE1","Nonaka Myopathy"]
[null,"GOSR2","","GS27, BOS1","Epilepsy Progressive Myoclonic 6"]
[null,"GPT2","","ALT2","Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly"]
[null,"GPX4","","PHGPX, MCSP","Spondylometaphyseal Dysplasia Sedaghatian Type"]
[null,"GRID2","","GLUD2, GLUR-DELTA-2","Grid2-Related Cerebellar Ataxia Biallelic"]
[null,"GRM1","","GPRC1A, MGLU1, MGLUR1, PPP1R85","Congenital Cerebellar Ataxia"]
[null,"GRN","","PCDGF, PGRN, CLN11","Frontotemporal Lobar Degeneration With Tdp43 Inclusions Grn-Related"]
[null,"GSS","","","Glutathione Synthetase Deficiency"]
[null,"GTF2E2","","TFIIE-B, FE, TF2E2","Dna Repair-Proficient Trichothiodystrophy"]
[null,"GUCY1A1","GUC1A3, GUCY1A3","GC-SA3","Moyamoya Disease 6 With Or Without Achalasia"]
[null,"H19","","D11S813E, ASM, ASM1, NCRNA00008, LINC00008, MIR675HG","Wilms Tumor 1"]
[null,"HACE1","","KIAA1320","Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures"]
[null,"HARS2","HARSL","HO3, HARSR","Perrault Syndrome 2"]
[null,"HEXA","","","Gm2-Gangliosidosis Type 1"]
[null,"HEXB","","","Gm2-Gangliosidosis Type 2"]
[null,"HIBCH","","","Neurodegeneration Due To 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency"]
[null,"HIKESHI","C11ORF73","HSPC138, HSPC179, OPI10","Leukodystrophy Hypomyelinating 13"]
[null,"HLCS","","HCS","Holocarboxylase Synthetase Deficiency"]
[null,"HPRT1","HPRT","HGPRT","Lesch-Nyhan Syndrome"]
[null,"HSD17B4","","MFE-2, DBP, SDR8C1","D-Bifunctional Protein Deficiency"]
[null,"HSPB3","","HSPL27","Neuronopathy Distal Hereditary Motor Type Iic"]
[null,"HSPD1","SPG13","GROEL, HSP60","Leukodystrophy Hypomyelinating Type 4"]
[null,"HTRA1","PRSS11","HTRA, IGFBP5-PROTEASE, ARMD7","Cerebral Arteriopathy Autosomal Recessive With Subcortical Infarcts And Leukoencephalopathy"]
[null,"HTT","HD","IT15","Lopes-Maciel-Rodan Syndrome"]
[null,"HYLS1","","FLJ32915","Hydrolethalus Syndrome Type 1"]
[null,"IBA57","C1ORF69","FLJ12734","Multiple Mitochondrial Dysfunctions Syndrome 3"]
[null,"IDUA","","MPS1, MPSI","Mucopolysaccharidosis Type 1S"]
[null,"IFIH1","","MDA-5, HLCD, MDA5, IDDM19","Aicardi-Goutieres Syndrome 7"]
[null,"IKBKG","IP2, IP1","IKK-GAMMA, NEMO, FIP3P, FIP-3, FIP3, ZC2HC9","Ectodermal Dysplasia Anhidrotic With Immunodeficiency X-Linked"]
[null,"INPP5E","JBTS1","PPI5PIV, CORS1, PHARBIN","Joubert Syndrome Type 1"]
[null,"IRF2BPL","C14ORF4","EAP1, KIAA1865","Neurodevelopmental Disorder With Regression Abnormal Movements Loss Of Speech And Seizures"]
[null,"ISCA2","HBLD1","ISA2","Multiple Mitochondrial Dysfunctions Syndrome 4"]
[null,"ITM2B","","BRI, E25B, E3-16, BRICD2B, BRI2","Cerebral Amyloid Angiopathy Itm2B-Related 1"]
[null,"ITPR1","SCA15, SCA16, SCA29","INSP3R1, IP3R1, ACV, PPP1R94","Spinocerebellar Ataxia 29 Congenital Nonprogressive"]
[null,"JAM3","","JAM-C, JAMC","Hemorrhagic Destruction Of The Brain Subependymal Calcification And Cataracts"]
[null,"KATNB1","","","Katnb1- Associated Complex Cerebral Malformations"]
[null,"KCNA1","AEMK","KV1.1, RBK1, HUK1, MBK1","Early Infantile Epileptic Encephalopathy"]
[null,"KCNA2","","KV1.2, HK4","Epileptic Encephalopathy Loss-Of-Function"]
[null,"KCNC3","SCA13","KV3.3","Spinocerebellar Ataxia Type 13"]
[null,"KCND3","SCA22, SCA19","KV4.3, KSHIVB","Kcnd3-Related Developmental Disorder Monoallelic"]
[null,"KCNJ10","","KIR4.1, KIR1.2","Seizures-Sensorineural Deafness-Ataxia-Mental Retardation-Electrolyte Imbalance"]
[null,"KCNJ6","KCNJ7","KIR3.2, GIRK2, KATP2, BIR1, HIGIRK2","Keppen-Lubinsky Syndrome"]
[null,"KCNMA1","SLO","KCA1.1, MSLO1","Generalized Epilepsy And Paroxysmal Dyskinesia"]
[null,"KCNQ2","EBN, EBN1","KV7.2, ENB1, BFNC, KCNA11, HNSPC","Epileptic Encephalopathy Early Infantile Type 7"]
[null,"KCNT1","","KCA4.1, KIAA1422, SLACK, SLO2.2","Malignant Migrating Partial Seizures Of Infancy"]
[null,"KDM5C","SMCX, JARID1C, MRX13","DXS1272E, XE169","Mental Retardation Syndromic X-Linked Jarid1C-Related"]
[null,"KIDINS220","","ARMS","Spastic Paraplegia Intellectual Disability Nystagmus And Obesity"]
[null,"KIF1A","ATSV, C2ORF20, SPG30","UNC104","Nescav Syndrome"]
[null,"KIF1C","SAX2","SPAX2, SPG58","Spastic Ataxia 2 Autosomal Recessive"]
[null,"KIF2A","KIF2","HK2","Malformations Of Cortical Development And Microcephaly."]
[null,"KIF5A","SPG10","D12S1889, NKHC, MY050","Spastic Paraplegia 10 Autosomal Dominant"]
[null,"KIF5C","","","Cortical Dysplasia Complex With Other Brain Malformations 2"]
[null,"KIF7","","JBTS12","Acrocallosal Syndrome"]
[null,"KLC2","","FLJ12387","Spastic Paraplegia Optic Atrophy And Neuropathy"]
[null,"KMT2B","","KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4, CXXC10","Complex Early-Onset Dystonia"]
[null,"L1CAM","HSAS1, SPG1, HSAS, MASA, MIC5, S10","CD171, NCAM-L1, CAML1","Hydrocephalus Due To Stenosis Of The Aqueduct Of Sylvius"]
[null,"L2HGDH","C14ORF160","FLJ12618","L-2-Hydroxyglutaric Aciduria"]
[null,"LAGE3","","ITBA2, CVG5, DXS9951E, DXS9879E, ESO3, PCC1","Galloway-Mowat Syndrome 2"]
[null,"LAMA1","LAMA","","Cerebellar Dysplasia With Cysts With Or Without Retinal Dystrophy"]
[null,"LAMB1","CLM","","Cobblestone Brain Malformation Without Muscular Or Ocular Abnormalities"]
[null,"LARS2","","KIAA0028, LEURS, MGC26121, MTLEURS","Perrault Syndrome"]
[null,"LIAS","","LAS","Neonatal-Onset Epilepsy Defective Mitochondrial Energy Metabolism And Glycine Elevation"]
[null,"LIPT1","","MGC12290, MGC13378","Leigh Syndrome With Secondary Deficiency For Pyruvate And Alpha-Ketoglutarate Dehydrogenase."]
[null,"LIPT2","","","Mitochondrial Lipoylation Defect Associated With Severe Neonatal Encephalopathy"]
[null,"LMNB1","","","Lmnb1-Associated Developmental Disorder"]
[null,"LRP4","","MEGF7, CLSS, LRP-4, SOST2","Cenani-Lenz Syndactyly Syndrome"]
[null,"LRPPRC","LSFC","GP130, LRP130","Leigh Syndrome French Canadian Type"]
[null,"LRRK2","PARK8","ROCO2, DKFZP434H2111, FLJ45829, RIPK7","Parkinson Disease 8 Autosomal Dominant"]
[null,"LRSAM1","","FLJ31641, CMT2P, RIFLE, TAL","Charcot-Marie-Tooth Disease Axonal Type 2P"]
[null,"LYRM7","C5ORF31","FLJ20796, MZM1L","Mitochondrial Complex Iii Deficiency Nuclear Type 8"]
[null,"MAG","GMA","SIGLEC4A, SIGLEC-4A, S-MAG","Spastic Paraplegia 75 Autosomal Recessive"]
[null,"MAN2B1","MANB","LAMAN","Lysosomal Alpha-Mannosidosis"]
[null,"MAPT","DDPAC, MAPTL","MTBT1, TAU, PPND, FTDP-17, TAU, MSTD, MTBT2, FLJ31424, MGC138549, PPP1R103, TAU-40","Parkinson-Dementia Syndrome Supranuclear Palsy Progressive 1 Atypical Included"]
[null,"MARS2","","MTMETRS, SPAX3","Combined Oxidative Phosphorylation Deficiency 25"]
[null,"MCEE","","GLOD2, MCE","Methylmalonyl-Coa Epimerase Deficiency"]
[null,"MCOLN1","","TRPML1, ML4, MLIV, MST080, MSTP080, TRPM-L1","Mucolipidosis Iv"]
[null,"MECP2","RTT, MRX16, MRX79","","Encephalopathy Neonatal Severe Due To Mecp2 Mutations"]
[null,"MECR","","CGI-63, NRBF1, FASN2B, ETR1","Childhood-Onset Dystonia And Optic Atrophy"]
[null,"MED17","CRSP6","CRSP77, TRAP80, DRIP80, SRB4","Microcephaly Postnatal Progressive With Seizures And Brain Atrophy"]
[null,"MFF","C2ORF33","GL004","Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 2"]
[null,"MFSD2A","MFSD2","FLJ14490, SLC59A1","Microcephaly 15 Primary Autosomal Recessive"]
[null,"MFSD8","CLN7","MGC33302","Mfsd8-Related Neuronal Ceroid-Lipofuscinosis"]
[null,"MGME1","C20ORF72","BA504H3.4, DDK1","Mitochondrial Dna Depletion Syndrome 11"]
[null,"MIPEP","","MIP","Combined Oxidative Phosphorylation Deficiency 31"]
[null,"MKKS","BBS6","","Mckusick-Kaufman Syndrome"]
[null,"MKS1","MKS","FLJ20345, POC12, BBS13","Bardet-Biedl Syndrome Type 13"]
[null,"MLC1","","MLC, KIAA0027, LVM, VL","Leukoencephalopathy Megalencephalic With Subcortical Cysts"]
[null,"MMACHC","","DKFZP564I122, CBLC","Methylmalonic Aciduria And Homocystinuria Cblc Type"]
[null,"MMADHC","C2ORF25","CL25022, CBLD","Methylmalonic Aciduria And Homocystinuria Type Cbld"]
[null,"MME","","CALLA, CD10, NEP","Spinocerebellar Ataxia 43"]
[null,"MOCS1","","MOCOD","Molybdenum Cofactor Deficiency"]
[null,"MOCS2","","MOCO1, MOCS2A, MOCS2B","Molybdenum Cofactor Deficiency"]
[null,"MPDU1","","SL15, LEC35, PQLC5, CDGIF, SLC66A5","Congenital Disorders Of Glycosylation"]
[null,"MRE11","MRE11A","ATLD","Ataxia Telangiectasia-Like Disorder"]
[null,"MRPS22","","MRP-S22, GK002, C3ORF5, GIBT","Combined Oxidative Phosphorylation Deficiency 5"]
[null,"MRPS34","","MRP-S12, MGC2616","Leigh Syndrome With Instability Of The Small Mitoribosomal Subunit"]
[null,"MSTO1","","FLJ10504, LST005, MST, MISATO","Myopathy Mitochondrial And Ataxia"]
[null,"MTFMT","","FMT1","Mitochondrial Complex I Deficiency Nuclear Type 27"]
[null,"MTHFR","","","Methylenetetrahydrofolate Reductase Deficiency"]
[null,"MTO1","","","Combined Oxidative Phosphorylation Deficiency 10"]
[null,"MTPAP","PAPD1","FLJ10486, SPAX4, TENT6","Spastic Ataxia 4 Autosomal Recessive"]
[null,"MTRFR","C12ORF65","FLJ38663, SPG55, COXPD7","Combined Oxidative Phosphorylation Deficiency 7"]
[null,"MTTP","MTP","ABL","Abetalipoproteinemia"]
[null,"MVK","","LRBP, MK","Hyper-Igd Syndrome"]
[null,"NACC1","BTBD14B","NAC1, NAC-1, BEND8, BTBD30","Infantile Epilepsy Cataracts And Profound Developmental Delay"]
[null,"NADK2","C5ORF33, NADKD1","FLJ30596, MNADK","Dienoyl-Coa Reductase Deficiency With Hyperlysinemia"]
[null,"NALCN","VGCNL1","BA430M15.1, CANION","Congenital Contractures Of The Limbs And Face Hypotonia And Developmental Delay"]
[null,"NARS2","DFNB94","FLJ23441, SLM5","Combined Oxidative Phosphorylation Deficiency 24"]
[null,"NAXE","APOA1BP","AIBP, MGC119143, MGC119144, MGC119145, YJEFN1","Lethal Neurometabolic Disorder Of Early Childhood"]
[null,"NDE1","","NUDE, FLJ20101, NDE","Lissencephaly 4"]
[null,"NDUFA1","","MWFE, CI-MWFE","Mitochondrial Respiratory Chain Complex I Deficiency"]
[null,"NDUFA10","","CI-42K","Leigh Syndrome With Leukodystrophy"]
[null,"NDUFA11","","B14.7","Mitochondrial Complex I Deficiency Nuclear Type 14"]
[null,"NDUFA12","","DAP13, B17.2","Mitochondrial Complex I Deficiency Nuclear Type 23"]
[null,"NDUFA2","","B8","Mitochondrial Complex I Deficiency Nuclear Type 13"]
[null,"NDUFA9","NDUFS2L","SDR22E1, CI-39K, COQ11","Leigh Syndrome"]
[null,"NDUFAF1","","CIA30, CGI-65","Mitochondrial Complex I Deficiency Nuclear Type 11"]
[null,"NDUFAF2","NDUFA12L","B17.2L, MMTN, MIMITIN","Leigh Syndrome"]
[null,"NDUFAF3","C3ORF60","MGC10527, DKFZP564J0123, E3-3, 2P1","Mitochondrial Complex I Deficiency Nuclear Type 18"]
[null,"NDUFAF4","C6ORF66","HSPC125, BA22L21.1, MY013, HRPAP20","Mitochondrial Complex I Deficiency Nuclear Type 15"]
[null,"NDUFAF5","C20ORF7","DJ842G6.1","Mitochondrial Complex I Deficiency Nuclear Type 16"]
[null,"NDUFAF6","C8ORF38","MGC40214","Mitochondrial Complex I Deficiency Nuclear Type 17"]
[null,"NDUFB11","","ESSS, NP17.3, NP15","Microphthalmia With Linear Skin Defects Syndrome"]
[null,"NDUFB3","","B12","Mitochondrial Complex I Deficiency Nuclear Type 25"]
[null,"NDUFB9","","B22, UQOR22, LYRM3","Mitochondrial Complex I Deficiency Nuclear Type 24"]
[null,"NDUFS1","","CI-75K","Mitochondrial Respiratory Chain Complex I Deficiency"]
[null,"NDUFS2","","CI-49","Mitochondrial Complex I Deficiency Nuclear Type 6"]
[null,"NDUFS3","","CI-30","Mitochondrial Complex I Deficiency Nuclear Type 8"]
[null,"NDUFS4","","AQDQ, CI-18","Leigh Syndrome"]
[null,"NDUFS6","","CI-13KA","Mitochondrial Complex I Deficiency Nuclear Type 9"]
[null,"NDUFS7","","PSST, FLJ46880, FLJ45860, CI-20","Mitochondrial Respiratory Chain Complex I Deficiency"]
[null,"NDUFS8","","TYKY, CI-23K","Mitochondrial Respiratory Chain Complex I Deficiency"]
[null,"NDUFV1","","CI-51K","Mitochondrial Complex I Deficiency"]
[null,"NDUFV2","","CI-24K","Mitochondrial Complex I Deficiency Nuclear Type 7"]
[null,"NEU1","NEU","","Sialidosis"]
[null,"NEXMIF","KIAA2022","XPN, MRX98, KIDLIA","Intellectual Disability And Epilepsy"]
[null,"NIPA1","SPG6","MGC35570, SLC57A1","Spastic Paraplegia 6 Autosomal Dominant"]
[null,"NKX2-1","NKX2A, BCH, TITF1","TTF-1, TTF1","Choreoathetosis Hypothyroidism And Neonatal Respiratory Distress"]
[null,"NKX6-2","","NKX6B, GTX, NKX6.1","Progressive Spastic Ataxia And Hypomyelination"]
[null,"NOL3","","ARC, NOP30, MYP, CARD2","Myoclonus Familial 1"]
[null,"NPC1","","SLC65A1","Niemann-Pick Disease Type C1"]
[null,"NPC2","","HE1, NP-C2, EDDM1","Niemann-Pick Disease Type C2"]
[null,"NPHP1","NPH1","JBTS4, SLSN1","Bardet-Biedl Syndrome"]
[null,"NSUN2","MRT5","FLJ20303, TRM4, MISU","Dubowitz Syndrome"]
[null,"NT5C2","NT5B, SPG45","PNT5, GMP, CN-II, SPG65","Spastic Paraplegia 45 Autosomal Recessive"]
[null,"NUBPL","C14ORF127","FLJ12660, IND1, HUIND1","Mitochondrial Complex I Deficiency"]
[null,"NUP62","","P62, DKFZP547L134, IBSN, SNDI, MGC841, FLJ20822, FLJ43869","Infantile Striatonigral Degeneration"]
[null,"NUS1","C6ORF68","MGC7199, NGBR, TANGO14","Epilepsy And Intellectual Disability"]
[null,"OFD1","CXORF5, RP23","71-7A, JBTS10","Joubert Syndrome Type 10"]
[null,"OPA1","","NTG, KIAA0567, FLJ12460, NPG, MGM1","Behr Syndrome"]
[null,"OPA3","","FLJ22187, MGA3","3-Methylglutaconic Aciduria Type Iii"]
[null,"OPHN1","MRX60","OPN1, ARHGAP41","Mental Retardation X-Linked Ophn1-Related"]
[null,"OSGEP","","PRSMG1, GCPL1, OSGEP1, KAE1, TCS3","Nephrotic Syndrome With Primary Microcephaly"]
[null,"PAFAH1B1","MDCR, MDS","LIS1, PAFAH, NUDF","Lissencephaly Type 1"]
[null,"PAH","","PH","Non-Phenylketonuria Hyperphenylalaninemia"]
[null,"PANK2","C20ORF48, NBIA1","HSS, FLJ11729, PKAN, HARP","Neurodegeneration With Brain Iron Accumulation 1"]
[null,"PARK7","","DJ-1, DJ1, GATD2","Parkinson Disease 7 Autosomal Recessive Early-Onset"]
[null,"PAX6","AN1, AN2","D11S812E, AN, WAGR","Aniridia"]
[null,"PC","","PCB","Pyruvate Carboxylase Deficiency"]
[null,"PCLO","","KIAA0559, DKFZP779G1236, ACZ","Pontocerebellar Hypoplasia Type 3"]
[null,"PDCD1","SLEB2","CD279, PD1, HSLE1, PD-1","Multiple Sclerosis Susceptibility To"]
[null,"PDE10A","","","Childhood-Onset Chorea With Bilateral Striatal Lesions"]
[null,"PDE8B","","","Pigmented Nodular Adrenocortical Disease Primary 3"]
[null,"PDGFB","SIS","SSV","Basal Ganglia Calcification Idiopathic 1"]
[null,"PDGFRA","","CD140A, PDGFR2, GAS9","Gist-Plus Syndrome"]
[null,"PDGFRB","PDGFR","JTK12, CD140B, PDGFR1","Premature Aging Syndrome Penttinen Type"]
[null,"PDHA1","PDHA","","Pyruvate Dehydrogenase E1-Alpha Deficiency"]
[null,"PDHB","","PDHE1B","Pyruvate Dehydrogenase E1-Beta Deficiency"]
[null,"PDHX","","E3BP, PROX, PDX1, OPDX, DLDBP","Lacticacidemia Due To Pdx1 Deficiency"]
[null,"PDP1","PPM2C","PDP, PDH, PPM2A","Pyruvate Dehydrogenase Phosphatase Deficiency"]
[null,"PDSS2","C6ORF210","BA59I9.3, COQ1B","Coenzyme Q10 Deficiency Primary 3"]
[null,"PDYN","SCA23","PENKB, ADCA","Spinocerebellar Ataxia 23"]
[null,"PEX10","","RNF69","Peroxisome Biogenesis Disorder Complementation Group 7"]
[null,"PEX12","","","Peroxisome Biogenesis Disorder Complementation Group 3"]
[null,"PEX16","","","Peroxisome Biogenesis Disorder Complementation Group 9"]
[null,"PEX2","PXMP3","PMP35, PAF-1, RNF72, ZWS3","Peroxisome Biogenesis Disorder Complementation Group 5"]
[null,"PEX3","","","Peroxisome Biogenesis Disorder Complementation Group 12"]
[null,"PEX6","","PXAAA1, PAF-2","Peroxisome Biogenesis Disorder Complementation Group 4"]
[null,"PEX7","","PTS2R, RD","Peroxisome Biogenesis Disorder Complementation Group 11"]
[null,"PGAP1","","FLJ12377, BST1, SPG67","Intellectual Disability Encephalopathy Impaired Gpi-Anchor Maturation"]
[null,"PGAP3","PERLD1","MGC9753, CAB2, PP1498, PER1","Hyperphosphatasia With Mental Retardation Syndrome 4"]
[null,"PHGDH","","SERA, PGDH, PDG","Phosphoglycerate Dehydrogenase Deficiency"]
[null,"PHYH","","PAHX, RD, PHYH1","Refsum Disease Classic"]
[null,"PIEZO2","FAM38B2, C18ORF30, C18ORF58, FAM38B","FLJ23403, FLJ23144, HST748, HST771, FLJ34907","Arthrogryposis Distal Type 3"]
[null,"PIGA","","GPI3","Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2"]
[null,"PIGG","","FLJ20265, GPI7, LAS21","Intellectual Disability With Seizures And Hypotonia"]
[null,"PIGN","","MCD4, PIG-N","Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome"]
[null,"PINK1","PARK6","BRPK","Parkinson Disease 6 Autosomal Recessive Early-Onset"]
[null,"PLA2G6","","IPLA2, PNPLA9, PARK14, IPLA2BETA, NBIA2","Infantile Neuroaxonal Dystrophy 1"]
[null,"PLCB1","","KIAA0581, PLC-I, PLC154","Epileptic Encephalopathy Early Infantile 12"]
[null,"PLG","","","Plasminogen Deficiency Type I Ligneous Conjunctivitis Included"]
[null,"PLP1","SPG2, PLP","GPM6C","Spastic Paraplegia X-Linked Type 2"]
[null,"PMM2","CDG1","CDGS, CDG1A, PMI, PMI1","Congenital Disorders Of Glycosylation"]
[null,"PMPCA","INPP5E, SCAR2, CLA1","KIAA0123, ALPHA-MPP, MAS2","Spinocerebellar Ataxia Autosomal Recessive 2"]
[null,"PNKD","","DYT8, PDC, DKFZP564N1362, FPD1, MR-1, BRP17, FKSG19, TAHCCP2, KIAA1184, KIPP1184, MGC31943, PKND1, MR-1S","Paroxysmal Nonkinesigenic Dyskinesia 1"]
[null,"PNKP","","PNK","Ataxia-Oculomotor Apraxia 4"]
[null,"PNP","NP","PUNP","Purine Nucleoside Phosphorylase Deficiency"]
[null,"PNPLA6","","NTE, SWS, IPLA2DELTA, SPG39","Laurence-Moon Syndrome"]
[null,"PNPLA8","","IPLA2G, IPLA2-2, IPLA2GAMMA","Mitochondrial Myopathy With Lactic Acidosis"]
[null,"POLG","","POLG1, POLGA","Mitochondrial Dna Depletion Syndrome 4A"]
[null,"POLG2","","MTPOLB, HP55","Progressive External Ophthalmoplegia With Mitochondrial Dna Deletionsautosomal Dominant 4"]
[null,"POLR1C","","RPA40, RPA39, RPA5, RPAC1, AC40, RPC40","Polr1C-Related Leukodystrophy"]
[null,"POLR3A","","RPC1, RPC155, HRPC155, C160","Autosomal Recessive Wiedemann Rautenstrauch Syndrome"]
[null,"POLR3B","","RPC2, FLJ10388, C128","Hypomyelination-Hypogonadotropic Hypogonadism-Hypodontia Syndrome"]
[null,"PPP3CA","CALN, CALNA","CNA1, PPP2B","Severe Neurodevelopmental Disease With Seizures"]
[null,"PPT1","PPT","CLN1, INCL","Neuronal Ceroid Lipofuscinosis Type 1"]
[null,"PRDM8","","KMT8D","Epilepsy Progressive Myoclonic 10"]
[null,"PRF1","","PFP, P1, HPLH2","Hemophagocytic Lymphohistiocytosis Familial 2"]
[null,"PRKCG","PKCG, SCA14","PKCC, MGC57564, PKC?","Spinocerebellar Ataxia 14"]
[null,"PRKN","PARK2","PDJ, AR-JP, PARKIN","Parkinson Disease 2 Autosomal Recessive Juvenile"]
[null,"PRKRA","","PACT, RAX, HSD14, DYT16","Dystonia 16"]
[null,"PRNP","PRIP, GSS, CJD","CD230, PRP, ALTPRP","Kuru Susceptibility To"]
[null,"PROC","","","Thrombophilia Due To Protein C Deficiency Autosomal Recessive"]
[null,"PRPS1","DFN2","CMTX5, DFNX1","Optic Atrophy Hearing Loss And Peripheral Neuropathy Autosomal Recessive"]
[null,"PRRT2","ICCA, DYT10","FLJ25513, DKFZP547J199, IFITMD1, FICCA, DSPB3, PKC, EKD1","Benign Familial Infantile Epilepsy And Infantile Convulsions With Choreoathetosis Syndrome"]
[null,"PSAP","SAP1, GLBA, SAP2","","Atypical Krabbe Disease"]
[null,"PSEN1","AD3","FAD, S182, PS1","Pick Disease Of Brain"]
[null,"PUM1","","PUMH1, KIAA0099","Spinocerebellar Ataxia 47"]
[null,"PYCR2","","P5CR2","Postnatal Microcephaly Hypomyelination And Reduced Cerebral White-Matter Volume"]
[null,"RAB18","","","Warburg Micro Syndrome Type 3"]
[null,"RAB27A","","RAB27, RAM, GS2, HST18676","Griscelli Syndrome Type 2"]
[null,"RAB39B","MRX72, WSN","","Mental Retardation X-Linked Type 72 (Mrx72) +/- Parkinsons"]
[null,"RAB3GAP1","","RAB3GAP, KIAA0066, RAB3GAP130, WARBM1","Warburg Micro Syndrome Type 1"]
[null,"RAB3GAP2","","RAB3-GAP150, KIAA0839, DKFZP434D245, SPG69","Martsolf Syndrome"]
[null,"RARS1","RARS","DALRD1","Rars1 Related Hypomyelinating Leukodystrophy"]
[null,"RARS2","RARSL","MGC14993, MGC23778, PRO1992, DJ382I10.6, DALRD2","Pontocerebellar Hypoplasia Type 6"]
[null,"REEP1","C2ORF23","FLJ13110, SPG31, YIP2A","Neuronopathy Distal Hereditary Motor Type Vb"]
[null,"REEP2","C5ORF19","SGC32445, SPG72, YIP2D","Spastic Paraplegia 72 Autosomal Recessive"]
[null,"RFT1","","CDG1N","Congenital Disorder Of Glycosylation Type 1N"]
[null,"RNASEH2A","","RNASEHI, RNHIA, RNHL, AGS4","Aicardi-Goutieres Syndrome 4"]
[null,"RNASEH2B","DLEU8, AGS2","FLJ11712","Aicardi-Goutieres Syndrome 2"]
[null,"RNASEH2C","","AYP1, AGS3","Aicardi-Goutieres Syndrome 3"]
[null,"RNASET2","","RNASE6PL, FLJ10907, BA514O12.3","Leukoencephalopathy Cystic Without Megalencephaly"]
[null,"RNF113A","ZNF183","RNF113, CWC24","X-Linked Trichothiodystrophy"]
[null,"RNF216","","TRIAD3, UBCE7IP1, ZIN","Gordon Holmes Syndrome"]
[null,"RORA","","RZRA, ROR1, ROR2, ROR3, NR1F1","Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia"]
[null,"RPGRIP1L","","KIAA1005, CORS3, JBTS7, MKS5, NPHP8, FTM, PPP1R134","Meckel Syndrome Type 5"]
[null,"RPIA","","","Ribose 5-Phosphate Isomerase Deficiency"]
[null,"RTN2","SPG12","NSP2, NSPL1","Spastic Paraplegia 12 Autosomal Dominant"]
[null,"RTN4IP1","","NIMP","Early-Onset Recessive Optic Neuropathy"]
[null,"RUBCN","KIAA0226","RUBICON, RUNDATAXIN","Syndromic Mr With Ataxia Dysarthria And Epilepsy"]
[null,"SACS","","ARSACS, KIAA0730, DKFZP686B15167, DNAJC29, SPAX6, PPP1R138","Spastic Ataxia Charlevoix-Saguenay Type"]
[null,"SAMD9","C7ORF5","KIAA2004, FLJ20073","Mirage - Myelodysplasia Infection Restriction Of Growth Adrenal Hypoplasia Genital Phenotypes Enteropathy"]
[null,"SAMD9L","C7ORF6","KIAA2005, FLJ39885","Ataxia-Pancytopenia Syndrome"]
[null,"SAMHD1","","SBBI88, MG11, HDDC1, MOP-5, AGS5","Aicardi-Goutieres Syndrome"]
[null,"SCN2A","SCN2A1, SCN2A2","NAV1.2, HBSCII, HBSCI","Infantile Epileptic Encephalopathy"]
[null,"SCN8A","MED","NAV1.6, NACH6, PN4, CERIII, CIAT","Epileptic Encephalopathy Early Infantile 13"]
[null,"SCP2","","","Leukoencephalopathy With Dystonia And Motor Neuropathy"]
[null,"SCYL1","NTKL","HT019, P105, GKLP, NKTL, TAPK, TRAP, TEIF, MGC78454","Episodes Of Liver Failure Peripheral Neuropathy Cerebellar Atrophy And Ataxia"]
[null,"SDHA","SDH2","FP, SDHF","Leigh Syndrome"]
[null,"SDHAF1","","LYRM8","Mitochondrial Complex Ii Deficiency"]
[null,"SDHD","PGL, PGL1","CYBS","Mitochondrial Complex Ii Deficiency"]
[null,"SEPSECS","","SLA/LP, SLA","Pontocerebellar Hypoplasia Type 2D"]
[null,"SERAC1","","FLJ14917","3-Methylglutaconic Aciduria With Deafness Encephalopathy And Leigh-Like Syndrome"]
[null,"SETX","ALS4, SCAR1","KIAA0625, AOA2, SEN1","Spinocerebellar Ataxia Autosomal Recessive With Axonal Neuropathy 2"]
[null,"SGCE","DYT11","","Dystonia 11 Myoclonic"]
[null,"SH3TC2","","KIAA1985, CMT4C","Charcot-Marie-Tooth Disease Type 4C"]
[null,"SIL1","MSS","BAP, ULG5","Marinesco-Sjoegren Syndrome"]
[null,"SLC16A2","DXS128, AHDS, MRX22","XPCT, MCT8, MCT7","Allan-Herndon-Dudley Syndrome"]
[null,"SLC17A5","SIASD","AST, SD, ISSD, NSD, SIALIN, SLD","Salla Disease"]
[null,"SLC19A2","TRMA","THTR1","Thiamine-Responsive Megaloblastic Anemia Syndrome"]
[null,"SLC19A3","","THTR2","Thiamine Metabolism Dysfunction Syndrome 2"]
[null,"SLC1A2","","GLT-1, EAAT2","Epileptic Encephalopathy"]
[null,"SLC1A3","","EAAT1, GLAST, EA6","Episodic Ataxia Type 6"]
[null,"SLC1A4","","SATT, ASCT1","Spastic Tetraplegia Thin Corpus Callosum And Progressive Microcephaly"]
[null,"SLC20A2","MLVAR, GLVR2","PIT-2, GLVR-2, RAM-1","Basal Ganglia Calcification Idiopathic 1"]
[null,"SLC25A12","","ARALAR","Developmental And Epileptic Encephalopathy 39"]
[null,"SLC25A15","ORNT1, HHH","ORC1, D13S327","Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome"]
[null,"SLC25A22","","GC1, FLJ13044, NET44, EIEE3","Epileptic Encephalopathy Early Infantile 3"]
[null,"SLC25A46","","","Neuropathy Hereditary Motor And Sensory Type Vib With Optic Atrophy"]
[null,"SLC2A1","GLUT1, GLUT, HTLVR, CSE","DYT18, DYT9","Glucose Transporter Type 1 Deficiency Syndrome"]
[null,"SLC30A10","","DKFZP547M236, ZNT-10, ZRC1, ZNT8","Hypermanganesemia With Dystonia 1"]
[null,"SLC33A1","ACATN, SPG42","AT-1, AT1","Autosomal-Recessive Disorder With Congenital Cataracts Hearing Loss And Low Serum Copper And Ceruloplasmin"]
[null,"SLC39A14","","KIAA0062, NET34, ZIP14","Hyperostosis Cranialis Interna"]
[null,"SLC4A1","EPB3, AE1, DI, WD","RTA1A, CD233, FR, SW, WR","Renal Tubular Acidosis Distal Ad"]
[null,"SLC52A2","GPR172A","FLJ11856, PAR1, GPCR41, D15ERTD747E, RFVT2, HRFT3","Brown-Vialetto-Van Laere Syndrome 2"]
[null,"SLC52A3","C20ORF54","BA371L19.1, HRFT2, RFVT3","Brown-Vialetto-Van Laere Syndrome"]
[null,"SLC6A19","","","Iminoglycinuria"]
[null,"SLC6A3","DAT1","DAT","Parkinsonism-Dystonia Infantile"]
[null,"SLC6A8","","CRTR, CT1","X-Linked Creatine Deficiency Syndrome"]
[null,"SLC9A1","APNH, NHE1","PPP1R143","Lichtenstein-Knorr Syndrome"]
[null,"SLC9A6","","NHE6, KIAA0267","Mental Retardation Syndromic X-Linked Christianson Type"]
[null,"SMG9","C19ORF61","FLJ12886","Smg9 Multiple Congenital Anomaly Syndrome"]
[null,"SMPD1","","ASM","Niemann-Pick Disease Type A"]
[null,"SNCA","PARK1, PARK4","NACP, PD1","Parkinson Disease 1 Autosomal Dominant"]
[null,"SNX14","","RGS-PX2","Id Macrocephaly And Cerebellar Hypoplasia"]
[null,"SOD1","ALS, ALS1","IPOA","Amyotrophic Lateral Sclerosis 1"]
[null,"SOX10","","DOM, WS4, WS2E","Yemenite Deaf-Blind Hypopigmentation Syndrome"]
[null,"SOX2","","","Microphthalmia Syndromic Type 3"]
[null,"SPART","SPG20","KIAA0610, TAHCCP1","Spastic Paraplegia 20 Autosomal Recessive"]
[null,"SPAST","SPG4","FSP2, ADPSP, KIAA1083","Spast-Related Developmental Disorder Monoallelic"]
[null,"SPATA5","","SPAF, AFG2","Epilepsy Hearing Loss And Mental Retardation Syndrome"]
[null,"SPG11","KIAA1840, ALS5","FLJ21439","Spastic Paraplegia-11"]
[null,"SPG21","","ACP33, GL010, BM-019, MAST, ABHD21","Mast Syndrome"]
[null,"SPG7","CMAR","CAR, SPG5C","Spastic Paraplegia 7 Autosomal Recessive"]
[null,"SPR","","SDR38C1","Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency"]
[null,"SPTAN1","","","Epileptic Encephalopathy Early Infantile Type 5"]
[null,"SPTBN2","SCA5","","Infantile Ataxia With Oculomotor And Pyramidal Signs"]
[null,"SQSTM1","PDB3, OSIL","P62, P60, P62B, A170","Myopathy Distal With Rimmed Vacuoles"]
[null,"ST3GAL5","SIAT9","ST3GALV, SIATGM3S","Amish Infantile Epilepsy Syndrome"]
[null,"STAMBP","","AMSH","Microcephaly-Capillary Malformation Mic-Cap Syndrome"]
[null,"STN1","OBFC1","FLJ22559, BA541N10.2","Cerebroretinal Microangiopathy With Calcifications And Cysts 2"]
[null,"STUB1","","UBOX1, CHIP, SDCCAG7, HSPABP2, NY-CO-7","Spinocerebellar Ataxia Autosomal Recessive 16"]
[null,"STXBP1","","HUNC18, MUNC18-1, UNC18, RBSEC1, NSEC1","Epileptic Encephalopathy Early Infantile Type 4"]
[null,"SUCLA2","LINC00444","","Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)"]
[null,"SUMF1","","FGE, UNQ3037","Sulfatidosis Juvenile Austin Type"]
[null,"SUOX","","","Sulfite Oxidase Deficiency Isolated"]
[null,"SURF1","","SHY1","Leigh Syndrome"]
[null,"SYNE1","C6ORF98","SYNE-1B, KIAA0796, 8B, NESPRIN-1, ENAPTIN, MYNE1, CPG2, DJ45H2.2, SCAR8, ARCA1, NESP1","Spinocerebellar Ataxia Autosomal Recessive 8"]
[null,"SYNGAP1","","SYNGAP, RASA5, KIAA1938","Syngap1-Related Developmental And Epileptic Encephalopathy"]
[null,"SYNJ1","","INPP5G, PARK20","Developmental And Epileptic Encephalopathy 53"]
[null,"SYT14","","SYTXIV, FLJ34198","Spinocerebellar Ataxia Autosomal Recessive 11"]
[null,"TAF1","TAF2A, BA2R, CCG1, CCGS, DYT3","NSCL2, TAFII250, KAT4, DYT3/TAF1","Dysmorphic Features Intellectual Disability And Neurological Manifestations"]
[null,"TAF2","TAF2B","TAFII150, CIF150","Autosomal Recessive Mental Retardation"]
[null,"TANGO2","C22ORF25","DKFZP761P1121","Infancy-Onset Recurrent Metabolic Crises With Encephalocardiomyopathy"]
[null,"TARDBP","","TDP-43, ALS10","Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia"]
[null,"TBC1D20","C20ORF140","DJ852M4.2","Warburg Micro Syndrome 4"]
[null,"TBCD","","","Early-Onset Neurodegenerative Encephalopathy"]
[null,"TBCE","KCS, HRD","KCS1, PAC2","Hypoparathyroidism-Retardation-Dysmorphism Syndrome"]
[null,"TCIRG1","","TIRC7, OC-116, OC116, ATP6N1C, ATP6I, A3, ATP6V0A3","Osteopetrosis Autosomal Recessive 1"]
[null,"TCTN1","","FLJ21127, TECT1, JBTS13","Joubert Syndrome And Related Disorders"]
[null,"TCTN2","C12ORF38","FLJ12975, TECT2, MKS8, JBTS24","Joubert Syndrome And Related Disorders"]
[null,"TCTN3","C10ORF61","DKFZP564D116, TECT3, JBTS18","Mohr-Majewski Syndrome"]
[null,"TDP1","","FLJ11090, SCAN1","Spinocerebellar Ataxia Autosomal Recessive With Axonal Neuropathy 1"]
[null,"TDP2","TTRAP","","Spinocerebellar Ataxia Autosomal Recessive 23"]
[null,"TECPR2","KIAA0329","","Hereditary Spastic Paraparesis"]
[null,"TELO2","","KIAA0683, HCLK2, TEL2","Telo2 Syndromic Intellectual Disability Disorder"]
[null,"TFG","","TF6, FLJ36137, SPG57","Neuropathy Hereditary Motor And Sensory Okinawa Type"]
[null,"TGM6","TGM3L","DJ734P14.3, TGY, SCA35","Spinocerebellar Ataxia 35"]
[null,"TH","","DYT5B","Dopa-Responsive Dystonia"]
[null,"THAP1","DYT6","FLJ10477, 4833431A01RIK","Dystonia 6 Torsion"]
[null,"TIMM8A","DFN1","DDP, MTS","Jensen Syndrome"]
[null,"TIMMDC1","C3ORF1","FLJ22597","Mitochondrial Complex I Deficiency Nuclear Type 31"]
[null,"TMEM126B","","HT007","Muscle Weakness And Isolated Complex I Deficiency"]
[null,"TMEM138","","HSPC196, JBTS16","Joubert Syndrome 16"]
[null,"TMEM216","CORS2, MKS2","MGC13379, HSPC244, JBTS2","Joubert Syndrome 2"]
[null,"TMEM231","","FLJ22167, ALYE870, PRO1886, JBTS20, MKS11","Meckel Syndrome Type 11"]
[null,"TMEM237","ALS2CR4","JBTS14","Joubert Syndrome 14"]
[null,"TMEM240","C1ORF70, SCA21","","Spinocerebellar Ataxia 21"]
[null,"TMEM67","MKS3","MGC26979, JBTS6, NPHP11","Nephronophthisis Type 11"]
[null,"TNFSF11","","TRANCE, RANKL, OPGL, ODF, CD254","Osteopetrosis Autosomal Recessive 2"]
[null,"TOR1A","DYT1","DQ2","Arthrogryposis Multiplex Congenita 5"]
[null,"TP53RK","C20ORF64","DJ101A2.2, PRPK, NORI-2P, BUD32, TPRKB","Galloway-Mowat Syndrome 4"]
[null,"TPI1","","","Triosephosphate Isomerase Deficiency"]
[null,"TPP1","CLN2, SCAR7","LPIC, TPP-1","Neuronal Ceroid Lipofuscinosis Type 2"]
[null,"TRAPPC11","C4ORF41","FLJ12716, GRY, FOIGR","Muscular Dystrophy Limb-Girdle Type 2S"]
[null,"TREM2","","TREM-2, TREM2A, TREM2B, TREM2C","Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2"]
[null,"TREX1","AGS1","DRN3","Aicardi-Goutieres Syndrome 1 Dominant And Recessive"]
[null,"TRIM32","LGMD2H","HT2A, TATIP, BBS11","Bardet-Biedl Syndrome Type 11"]
[null,"TRMT5","KIAA1393","TRM5","Combined Oxidative Phosphorylation Deficiency 26"]
[null,"TTBK2","SCA11","KIAA0847","Spinocerebellar Ataxia 11"]
[null,"TTC19","","FLJ20343, MGC19520","Mitochondrial Complex Iii Deficiency"]
[null,"TTC8","","BBS8, RP51","Bardet-Biedl Syndrome Type 8"]
[null,"TTPA","AVED","","Ataxia With Vitamin E Deficiency"]
[null,"TUBB4A","TUBB4, DYT4","BETA-5","Hypomyelination With Atrophy Of The Basal Ganglia And Cerebellum"]
[null,"TWNK","IOSCA, C10ORF2","PEO, PEO1, TWINKLE, FLJ21832, TWINL","Mitochondrial Dna Depletion Syndrome 7 Hepatocerebral Type"]
[null,"TYMP","MNGIE, ECGF1","","Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)"]
[null,"UBA5","UBE1DC1","FLJ23251","Severe Infantile-Onset Encephalopathy"]
[null,"UBAP1","UBAP","","Spastic Paraplegia 80 Autosomal Dominant"]
[null,"UBTF","","UBF, NOR-90, UBF1, UBF2","Childhood-Onset Neurodegeneration"]
[null,"UCHL1","PARK5","PGP9.5, UCH-L1","Early-Onset Progressive Neurodegeneration-Blindness-Ataxia-Spasticity Syndrome"]
[null,"VAC14","TAX1BP2","FLJ10305, ARPIKFYVE","Progressive Neurological Disorder And Regression Of Developmental Milestones"]
[null,"VAMP1","SYB1","VAMP-1","Myasthenic Syndrome Congenital 25 Presynaptic"]
[null,"VLDLR","","CARMQ1, CHRMQ1, VLDLRCH","Cerebellar Ataxia Mental Retardation And Dysequilibrium Syndrome Type 1"]
[null,"VPS13A","CHAC","KIAA0986","Choreoacanthocytosis"]
[null,"VPS13C","","FLJ20136, FLJ10381, KIAA1421","Parkinson Disease 23 Autosomal Recessive Early-Onset"]
[null,"VPS13D","","FLJ10619, KIAA0453","Spinocerebellar Ataxia Autosomal Recessive 4"]
[null,"VPS35","","FLJ10752, MEM3, PARK17","Parkinson Disease 17"]
[null,"VWA3B","","DKFZP686F2227, MGC26733","Spinocerebellar Ataxia Autosomal Recessive 22"]
[null,"WASHC4","KIAA1033","SWIP","Mental Retardation Autosomal Recessive 43"]
[null,"WASHC5","SPG8, KIAA0196","","Ritscher-Schinzel Syndrome 1"]
[null,"WDPCP","C2ORF86","HFRTZ, FRITZ, BBS15, CPLANE5","Bardet-Biedl Syndrome Type 15"]
[null,"WDR81","","FLJ33817, PPP1R166, CAMRQ2, SORF-2","Cerebellar Ataxia Mental Retardation And Dysequilibrium Syndrome 2"]
[null,"WFS1","DFNA6, DFNA14, DFNA38","DIDMOAD, WFS","Wolfram-Like Syndrome Autosomal Dominant"]
[null,"WWOX","","FOR, WOX1, SDR41C1","Epileptic Encephalopathy Early Infantile 28"]
[null,"XPR1","","SYG1, X3, SLC53A1","Basal Ganglia Calcification Idiopathic 6"]
[null,"XRCC1","RCC","","Spinocerebellar Ataxia Autosomal Recessive 26"]
[null,"ZFYVE26","SPG15","KIAA0321","Spastic Paraplegia Autosomal Recessive Type 15"]
[null,"ZNF423","","KIAA0760, OAZ, HOAZ, EBFAZ, ZFP104, NPHP14, JBTS19","Joubert Syndrome With Oculorenal Defect"]

{"sheet":"Spastic Paraplegia","index":10,"n_rows":77,"n_cols":5,"rows_kept":77,"cut":false,"hidden":true,"merged":[[0,1,0,4]]}
[null,"Spastic Paraplegia Panel"]
[null,"Gene","Previous Symbols","Alias Symbols","Disease Association"]
[null,"ABCD1","ALD","AMN, ALDP, ADRENOLEUKODYSTROPHY","Adrenoleukodystrophy X-Linked"]
[null,"AFG3L2","SCA28","SPAX5","Ataxia Spastic 5 Autosomal Recessive"]
[null,"ALDH18A1","GSAS, PYCS, SPG9","P5CS","Cutis Laxa Autosomal Dominant 3"]
[null,"ALS2","ALS2CR6","","Amyotrophic Lateral Sclerosis 2 Juvenile"]
[null,"AP4B1","SPG47","BETA-4","Cerebral Palsy Spastic Quadriplegic Type 5"]
[null,"AP4E1","","AP-4-EPSILON, SPG51","Cerebral Palsy Spastic Quadriplegic Type 4"]
[null,"AP4M1","","MU-ARP2, MU-4, SPG50","Cerebral Palsy Spastic Quadriplegic Type 3"]
[null,"AP4S1","","CLA20, AP47B, SPG52","Cerebral Palsy Spastic Quadriplegic Type 6"]
[null,"AP5Z1","KIAA0415","SPG48, ZETA","Spastic Paraplegia 48 Autosomal Recessive"]
[null,"ARG1","","","Argininemia"]
[null,"ARL6IP1","ARL6IP","AIP1, ARMER, KIAA0069, SPG61","Spastic Paraplegia 61 Autosomal Recessive"]
[null,"ATAD3A","","FLJ10709","Atad3A Disorder -  Global Developmental Delay Hypotonia Optic Atrophy Axonal Neuropathy And Hypertrophic Cardiomyopathy"]
[null,"ATL1","SPG3, SPG3A","FSP1, AD-FSP","Spastic Paraplegia 3 Autosomal Dominant"]
[null,"B4GALNT1","GALGT, SPG26","BETA1-4GALNAC-T","Spastic Paraplegia 26 Autosomal Recessive"]
[null,"BSCL2","GNG3LG, SPG17","SEIPIN","Spastic Paraplegia 17 Autosomal Dominant"]
[null,"BTD","","","Biotinidase Deficiency"]
[null,"C19ORF12","SPG43","MGC10922, DKFZP762D096, NBIA4, MPAN","Spastic Paraplegia 43 Autosomal Recessive"]
[null,"CACNA1G","","CAV3.1, NBR13","Cacna1G-Related Developmental Disorder Monoallelic"]
[null,"CAPN1","","MUCANP, MUCL, CANP, CANPL1","Spastic Paraplegia 76 Autosomal Recessive"]
[null,"COASY","","DPCK, NBP, PPAT","Neurodegeneration With Brain Iron Accumulation"]
[null,"CTNNB1","CTNNB","BETA-CATENIN, ARMADILLO","Neurodevelopmental Disorder With Spastic Diplegia And Visual Defects"]
[null,"CYP27A1","CYP27","CTX, CP27","Cerebrotendinous Xanthomatosis"]
[null,"CYP2U1","SPG56","SPG49","Hereditary Spastic Paraplegia"]
[null,"CYP7B1","SPG5A","","Spastic Paraplegia 5A Autosomal Recessive"]
[null,"DARS1","DARS","","Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity"]
[null,"DDHD1","SPG28","KIAA1705, PA-PLA1, PAPLA1, IPLA1A","Hereditary Spastic Paraplegia"]
[null,"DDHD2","SAMWD1","KIAA0725, SPG54, IPLA1?","Complex Hereditary Spastic Paraplegia"]
[null,"ERLIN2","C8ORF2, SPFH2, SPG18","NET32, ERLIN-2","Recessive Intellectual Disability-Motor Dysfunction-Multiple Joint Contractures Syndrome"]
[null,"FA2H","FAXDC1, SPG35","FAAH, FLJ25287","Spastic Paraplegia 35 Autosomal Recessive"]
[null,"FARS2","FARS1","DJ236A3.1, MTPHERS","Neurometabolic Disorder Due To Fars2 Deficiency"]
[null,"FXN","FRDA","FA, FARR, X25, CYAY","Friedreich Ataxia"]
[null,"GALC","","","Krabbe Disease"]
[null,"GBA2","SPG46","KIAA1605, AD035, DKFZP762K054","Autosomal-Recessive Cerebellar Ataxia With Spasticity."]
[null,"GBE1","","","Glycogen Storage Disease Iv"]
[null,"GCH1","GCH, DYT5, DYT14","GTPCH1, DYT5A","Autosomal Dominant Dopa-Responsive Dystonia"]
[null,"GJC2","GJA12","CX47, CX46.6, SPG44","Leukodystrophy Hypomyelinating 2"]
[null,"GPT2","","ALT2","Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly"]
[null,"HACE1","","KIAA1320","Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures"]
[null,"HSPD1","SPG13","GROEL, HSP60","Leukodystrophy Hypomyelinating Type 4"]
[null,"IBA57","C1ORF69","FLJ12734","Multiple Mitochondrial Dysfunctions Syndrome 3"]
[null,"IRF2BPL","C14ORF4","EAP1, KIAA1865","Neurodevelopmental Disorder With Regression Abnormal Movements Loss Of Speech And Seizures"]
[null,"KDM5C","SMCX, JARID1C, MRX13","DXS1272E, XE169","Mental Retardation Syndromic X-Linked Jarid1C-Related"]
[null,"KIDINS220","","ARMS","Spastic Paraplegia Intellectual Disability Nystagmus And Obesity"]
[null,"KIF1A","ATSV, C2ORF20, SPG30","UNC104","Nescav Syndrome"]
[null,"KIF5A","SPG10","D12S1889, NKHC, MY050","Spastic Paraplegia 10 Autosomal Dominant"]
[null,"L1CAM","HSAS1, SPG1, HSAS, MASA, MIC5, S10","CD171, NCAM-L1, CAML1","Hydrocephalus Due To Stenosis Of The Aqueduct Of Sylvius"]
[null,"L2HGDH","C14ORF160","FLJ12618","L-2-Hydroxyglutaric Aciduria"]
[null,"MARS2","","MTMETRS, SPAX3","Combined Oxidative Phosphorylation Deficiency 25"]
[null,"MTRFR","C12ORF65","FLJ38663, SPG55, COXPD7","Combined Oxidative Phosphorylation Deficiency 7"]
[null,"NIPA1","SPG6","MGC35570, SLC57A1","Spastic Paraplegia 6 Autosomal Dominant"]
[null,"NKX6-2","","NKX6B, GTX, NKX6.1","Progressive Spastic Ataxia And Hypomyelination"]
[null,"NT5C2","NT5B, SPG45","PNT5, GMP, CN-II, SPG65","Spastic Paraplegia 45 Autosomal Recessive"]
[null,"PAH","","PH","Non-Phenylketonuria Hyperphenylalaninemia"]
[null,"PLP1","SPG2, PLP","GPM6C","Spastic Paraplegia X-Linked Type 2"]
[null,"PNPLA6","","NTE, SWS, IPLA2DELTA, SPG39","Laurence-Moon Syndrome"]
[null,"RARS1","RARS","DALRD1","Rars1 Related Hypomyelinating Leukodystrophy"]
[null,"REEP1","C2ORF23","FLJ13110, SPG31, YIP2A","Neuronopathy Distal Hereditary Motor Type Vb"]
[null,"RTN2","SPG12","NSP2, NSPL1","Spastic Paraplegia 12 Autosomal Dominant"]
[null,"SACS","","ARSACS, KIAA0730, DKFZP686B15167, DNAJC29, SPAX6, PPP1R138","Spastic Ataxia Charlevoix-Saguenay Type"]
[null,"SETX","ALS4, SCAR1","KIAA0625, AOA2, SEN1","Spinocerebellar Ataxia Autosomal Recessive With Axonal Neuropathy 2"]
[null,"SLC16A2","DXS128, AHDS, MRX22","XPCT, MCT8, MCT7","Allan-Herndon-Dudley Syndrome"]
[null,"SLC1A4","","SATT, ASCT1","Spastic Tetraplegia Thin Corpus Callosum And Progressive Microcephaly"]
[null,"SLC25A15","ORNT1, HHH","ORC1, D13S327","Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome"]
[null,"SLC33A1","ACATN, SPG42","AT-1, AT1","Autosomal-Recessive Disorder With Congenital Cataracts Hearing Loss And Low Serum Copper And Ceruloplasmin"]
[null,"SPART","SPG20","KIAA0610, TAHCCP1","Spastic Paraplegia 20 Autosomal Recessive"]
[null,"SPAST","SPG4","FSP2, ADPSP, KIAA1083","Spast-Related Developmental Disorder Monoallelic"]
[null,"SPG11","KIAA1840, ALS5","FLJ21439","Spastic Paraplegia-11"]
[null,"SPG7","CMAR","CAR, SPG5C","Spastic Paraplegia 7 Autosomal Recessive"]
[null,"SPR","","SDR38C1","Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency"]
[null,"TECPR2","KIAA0329","","Hereditary Spastic Paraparesis"]
[null,"TFG","","TF6, FLJ36137, SPG57","Neuropathy Hereditary Motor And Sensory Okinawa Type"]
[null,"TH","","DYT5B","Dopa-Responsive Dystonia"]
[null,"UBAP1","UBAP","","Spastic Paraplegia 80 Autosomal Dominant"]
[null,"WASHC5","SPG8, KIAA0196","","Ritscher-Schinzel Syndrome 1"]
[null,"ZFYVE26","SPG15","KIAA0321","Spastic Paraplegia Autosomal Recessive Type 15"]

{"sheet":"Inputs","index":11,"n_rows":100,"n_cols":36,"rows_kept":100,"cut":false,"hidden":true,"merged":[[1,0,1,4]]}
["This Sheet is Lab Use Only",null,null,null,null,"Blue cells are used for macros\nYellow cells are uploaded to the database\nOrange cells are concatenated with existing information and then uploaded"]
["Form",null,null,null,null,"If importing from previous version check that B4 corresponds to these values: 1=Panel, 2=single, 3=duo, 4=trio 5= other"]
["Test information","Value","Table","Field","Notes","Provider information","Value","Table","Field","Notes","Proband information","Value","Table","Field","Notes","Family history","Value","Table","Field","Notes","Family member 1","Value","Table","Field","Notes","Family member 2","Value","Table","Field","Notes"]
["Test Type",0,"Case_Details","Approach","1=Panel, 2=single, 3=duo, 4=trio 5= other","provider name",{"$f":"Form!D19","v":0},"Case_Details","Provider",null,"first name",{"$f":"Form!$D$28","v":0},"Patient","First_Name",null,"Family history",0,"Case_Details","Family_History","1=known, 2=unknown, 3=possible, 4=none","first name",{"$f":"Form!D64","v":0},"Patient","First_Name",null,"first name",{"$f":"Form!D85","v":0},"Patient","First_Name"]
["Ongoing pregnancy",false,"Case_Details","Ongoing_Pregnancy",null,"provider email",{"$f":"Form!I19","v":0},"Case_Details","Provider_Email",null,"last name",{"$f":"Form!$I$28","v":0},"Patient","Last_Name",null,"consanguinity",false,"Case_Details","Consanguinity",null,"last name",{"$f":"Form!I64","v":0},"Patient","Last_Name",null,"last name",{"$f":"Form!I85","v":0},"Patient","Last_Name"]
["Genes",{"$f":"Form!M8","v":0},"Case_Details","Gene_List",null,"provider phone",{"$f":"Form!N19","v":0},"Case_Details","Provider_Phone",null,"preferred name",{"$f":"Form!$N$28","v":0},"Patient","Preferred_Name",null,"ethnic background",{"$f":"Form!H52","v":0},"Patient (proband)","Ethnic_Background",null,"ethnic background",{"$f":"Form!N64","v":0},"Patient","Ethnic_Background",null,"ethnic background",{"$f":"Form!N85","v":0},"Patient","Ethnic_Background"]
["Reason for genes",{"$f":"Form!M12","v":0},"Case_Details","Gene_List_Notes",null,"clinic contact",{"$f":"Form!D21","v":0},"Case_Details","Clinic_Contact",null,"email",{"$f":"Form!$D$33","v":0},"Patient","Email",null,"notes",{"$f":"Form!H54","v":0},"Case_Details","Family_History_Notes",null,"email",{"$f":"Form!D70","v":0},"Patient","Email",null,"email",{"$f":"Form!D91","v":0},"Patient","Email"]
["Epilepsy",false,"Case_Details","Panel_List",null,"clinic email",{"$f":"Form!I21","v":0},"Case_Details","Clinic_Contact_Email",null,"phone",{"$f":"Form!$I$33","v":0},"Patient","Phone",null,null,null,null,null,null,"phone",{"$f":"Form!I70","v":0},"Patient","Phone",null,"phone",{"$f":"Form!I91","v":0},"Patient","Phone"]
["Charcot-Marie-Tooth",false,"Case_Details","Panel_List",null,"copy to name",{"$f":"Form!D23","v":0},"Case_Details","Copy_Name",null,"DOB",{"$f":"Form!$D$30","v":"00:00:00"},"Patient","DOB",null,null,null,null,null,null,"DOB",{"$f":"Form!D66","v":"00:00:00"},"Patient","DOB",null,"DOB",{"$f":"Form!D87","v":"00:00:00"},"Patient","DOB"]
["Retinal Dystrophy",false,"Case_Details","Panel_List",null,"copy to email",{"$f":"Form!I23","v":0},"Case_Details","Copy_Email",null,"AHN",{"$f":"Form!$I$30","v":0},"Patient","PHN",null,null,null,null,null,null,"PHN",{"$f":"Form!I66","v":0},"Patient","PHN",null,"PHN",{"$f":"Form!I87","v":0},"Patient","PHN"]
["Complex Immune Dysregulation",false,"Case_Details","Panel_List",null,null,null,null,null,null,"Sex",{"$f":"Form!$N$30","v":0},"Patient","Sex",null,null,null,null,null,null,"Province",{"$f":"Form!I68","v":0},"Patient","Province",null,"Province",{"$f":"Form!I89","v":0},"Patient","Province"]
["Growth and Related Disorders",false,"Case_Details","Panel_List",null,null,null,null,null,null,"Gender",{"$f":"Form!$N$32","v":0},"Patient","Gender",null,null,null,null,null,null,"Sex",{"$f":"Form!N66","v":0},"Patient","Sex",null,"Sex",{"$f":"Form!N87","v":0},"Patient","Sex"]
["Ataxia",false,"Case_Details","Panel_List",null,null,null,null,null,null,"Research Future &\nResearch Database",false,"Patient","Research_Recontact\nResearch_Database",null,null,null,null,null,null,"Gender",{"$f":"Form!N68","v":0},"Patient","Gender",null,"Gender",{"$f":"Form!N89","v":0},"Patient","Gender"]
["Spastic Paraplegia",false,"Case_Details","Panel_List",null,null,null,null,null,null,"Notes",{"$f":"Form!$D$36","v":0},"Case_Details","Notes",null,null,null,null,null,null,"Research Future &\n Research Database",false,"Patient","Research_Recontact\nResearch_Database",null,"Research Future &\n Research Database",false,"Patient","Research_Recontact\nResearch_Database"]
["Movement Disorders",false,"Case_Details","Panel_List",null,null,null,null,null,null,"HPO terms",{"$f":"Form!$L$36","v":0},"Used for HPO validation",null,null,null,null,null,null,null,"Relationship",0,"Patient","Relationship","1=mother, 2=father, 3=sibling, 4=other","Relationship",0,"Patient","Relationship","1=mother, 2=father, 3=sibling, 4=other"]
[null,null,null,null,null,null,null,null,null,null,"stem cell",false,"Patient","Stem_Cells",null,null,null,null,null,null,"Phenotype",0,"Patient","Phenotype","1=affected, 2=not affected, 3=partially affected, 4=uncertain","Phenotype",0,"Patient","Phenotype","1=affected, 2=not affected, 3=partially affected, 4=uncertain"]
[null,null,null,null,null,null,null,null,null,null,"blood transfusion",false,"Patient","Blood_Transfusion",null,null,null,null,null,null,"stem cell",false,"Patient","Stem_Cells",null,"stem cell",false,"Patient","Stem_Cells"]
[null,null,null,"Case Prioritized?",null,null,null,null,null,null,"ACMG genes",false,"Patient","Secondary_Analysis",null,null,null,null,null,null,"blood transfusion",false,"Patient","Blood_Transfusion",null,"blood transfusion",false,"Patient","Blood_Transfusion"]
[null,null,null,false,null,null,null,null,null,null,"Clinical Data Sharing",false,"Patient","Clinical_Data_Sharing",null,null,null,null,null,null,"ACMG genes",false,"Patient","Secondary_Analysis",null,"ACMG genes",false,"Patient","Secondary_Analysis"]
[null,null,null,null,null,null,null,null,null,null,null,null,null,null,null,null,null,null,null,null,"notes",{"$f":"Form!D78","v":0},"Patient","Notes",null,"notes",{"$f":"Form!D99","v":0},"Patient","Notes"]
[null,null,null,null,null,null,null,null,null,null,null,null,null,null,null,null,null,null,null,null,"Clinical Data Sharing",false,"Patient","Clinical_Data_Sharing",null,"Clinical Data Sharing",false,"Patient","Clinical_Data_Sharing"]
[null,null,null,null,null,null,null,null,null,null,null,null,null,null,null,null,null,null,null,null,null,{"$f":"LEFT(V10, 5)","v":"0"},"Patient","Relationship","If the relationship is sibling or other, the first 5 digits of the PHN are added to the relationship so that family members can be distinguished from one another",null,{"$f":"LEFT(AA10, 5)","v":"0"},"Patient","Relationship","If the relationship is sibling or other, the first 5 digits of the PHN are added to the relationship so that family members can be distinguished from one another"]
[]
[]
[]
[]
[]
[]
["intellectual disability, mild"," autism"," tall stature"," Abnormality of speech or vocalization"]
[]
[null,"IDs","Approved Terms","Unapproved Terms","semicolon  separated list of approved terms","semicolon  separated list of approved IDs"]
[null,{"$f":"HPO_Check!E2","v":""},{"$f":"HPO_Check!D2","v":""},{"$f":"HPO_Check!F2","v":""},{"$f":"IFERROR(_xlfn.TEXTJOIN(\"; \", TRUE, C32:C99),\"\")","v":""},{"$f":"IFERROR(_xlfn.TEXTJOIN(\"; \", TRUE, B32:B99), \"\")","v":""}]
[null,{"$f":"HPO_Check!E3","v":""},{"$f":"HPO_Check!D3","v":""},{"$f":"HPO_Check!F3","v":""},"Uploaded to Case_Details HPO_List","Uploaded to Case_Details HPO_ID_List"]
[null,{"$f":"HPO_Check!E4","v":""},{"$f":"HPO_Check!D4","v":""},{"$f":"HPO_Check!F4","v":""}]
[null,{"$f":"HPO_Check!E5","v":""},{"$f":"HPO_Check!D5","v":""},{"$f":"HPO_Check!F5","v":""}]
[null,{"$f":"HPO_Check!E6","v":""},{"$f":"HPO_Check!D6","v":""},{"$f":"HPO_Check!F6","v":""}]
[null,{"$f":"HPO_Check!E7","v":""},{"$f":"HPO_Check!D7","v":""},{"$f":"HPO_Check!F7","v":""}]
[null,{"$f":"HPO_Check!E8","v":""},{"$f":"HPO_Check!D8","v":""},{"$f":"HPO_Check!F8","v":""}]
[null,{"$f":"HPO_Check!E9","v":""},{"$f":"HPO_Check!D9","v":""},{"$f":"HPO_Check!F9","v":""}]
[null,{"$f":"HPO_Check!E10","v":""},{"$f":"HPO_Check!D10","v":""},{"$f":"HPO_Check!F10","v":""}]
[null,{"$f":"HPO_Check!E11","v":""},{"$f":"HPO_Check!D11","v":""},{"$f":"HPO_Check!F11","v":""}]
[null,{"$f":"HPO_Check!E12","v":""},{"$f":"HPO_Check!D12","v":""},{"$f":"HPO_Check!F12","v":""}]
[null,{"$f":"HPO_Check!E13","v":""},{"$f":"HPO_Check!D13","v":""},{"$f":"HPO_Check!F13","v":""}]
[null,{"$f":"HPO_Check!E14","v":""},{"$f":"HPO_Check!D14","v":""},{"$f":"HPO_Check!F14","v":""}]
[null,{"$f":"HPO_Check!E15","v":""},{"$f":"HPO_Check!D15","v":""},{"$f":"HPO_Check!F15","v":""}]
[null,{"$f":"HPO_Check!E16","v":""},{"$f":"HPO_Check!D16","v":""},{"$f":"HPO_Check!F16","v":""}]
[null,{"$f":"HPO_Check!E17","v":""},{"$f":"HPO_Check!D17","v":""},{"$f":"HPO_Check!F17","v":""}]
[null,{"$f":"HPO_Check!E18","v":""},{"$f":"HPO_Check!D18","v":""},{"$f":"HPO_Check!F18","v":""}]
[null,{"$f":"HPO_Check!E19","v":""},{"$f":"HPO_Check!D19","v":""},{"$f":"HPO_Check!F19","v":""}]
[null,{"$f":"HPO_Check!E20","v":""},{"$f":"HPO_Check!D20","v":""},{"$f":"HPO_Check!F20","v":""}]
[null,{"$f":"HPO_Check!E21","v":""},{"$f":"HPO_Check!D21","v":""},{"$f":"HPO_Check!F21","v":""}]
[null,{"$f":"HPO_Check!E22","v":""},{"$f":"HPO_Check!D22","v":""},{"$f":"HPO_Check!F22","v":""}]
[null,{"$f":"HPO_Check!E23","v":""},{"$f":"HPO_Check!D23","v":""},{"$f":"HPO_Check!F23","v":""}]
[null,{"$f":"HPO_Check!E24","v":""},{"$f":"HPO_Check!D24","v":""},{"$f":"HPO_Check!F24","v":""}]
[null,{"$f":"HPO_Check!E25","v":""},{"$f":"HPO_Check!D25","v":""},{"$f":"HPO_Check!F25","v":""}]
[null,{"$f":"HPO_Check!E26","v":""},{"$f":"HPO_Check!D26","v":""},{"$f":"HPO_Check!F26","v":""}]
[null,{"$f":"HPO_Check!E27","v":""},{"$f":"HPO_Check!D27","v":""},{"$f":"HPO_Check!F27","v":""}]
[null,{"$f":"HPO_Check!E28","v":""},{"$f":"HPO_Check!D28","v":""},{"$f":"HPO_Check!F28","v":""}]
[null,{"$f":"HPO_Check!E29","v":""},{"$f":"HPO_Check!D29","v":""},{"$f":"HPO_Check!F29","v":""}]
[null,{"$f":"HPO_Check!E30","v":""},{"$f":"HPO_Check!D30","v":""},{"$f":"HPO_Check!F30","v":""}]
[null,{"$f":"HPO_Check!E31","v":""},{"$f":"HPO_Check!D31","v":""},{"$f":"HPO_Check!F31","v":""}]
[null,{"$f":"HPO_Check!E32","v":""},{"$f":"HPO_Check!D32","v":""},{"$f":"HPO_Check!F32","v":""}]
[null,{"$f":"HPO_Check!E33","v":""},{"$f":"HPO_Check!D33","v":""},{"$f":"HPO_Check!F33","v":""}]
[null,{"$f":"HPO_Check!E34","v":""},{"$f":"HPO_Check!D34","v":""},{"$f":"HPO_Check!F34","v":""}]
[null,{"$f":"HPO_Check!E35","v":""},{"$f":"HPO_Check!D35","v":""},{"$f":"HPO_Check!F35","v":""}]
[null,{"$f":"HPO_Check!E36","v":""},{"$f":"HPO_Check!D36","v":""},{"$f":"HPO_Check!F36","v":""}]
[null,{"$f":"HPO_Check!E37","v":""},{"$f":"HPO_Check!D37","v":""},{"$f":"HPO_Check!F37","v":""}]
[null,{"$f":"HPO_Check!E38","v":""},{"$f":"HPO_Check!D38","v":""},{"$f":"HPO_Check!F38","v":""}]
[null,{"$f":"HPO_Check!E39","v":""},{"$f":"HPO_Check!D39","v":""},{"$f":"HPO_Check!F39","v":""}]
[null,{"$f":"HPO_Check!E40","v":""},{"$f":"HPO_Check!D40","v":""},{"$f":"HPO_Check!F40","v":""}]
[null,{"$f":"HPO_Check!E41","v":""},{"$f":"HPO_Check!D41","v":""},{"$f":"HPO_Check!F41","v":""}]
[null,{"$f":"HPO_Check!E42","v":""},{"$f":"HPO_Check!D42","v":""},{"$f":"HPO_Check!F42","v":""}]
[null,{"$f":"HPO_Check!E43","v":""},{"$f":"HPO_Check!D43","v":""},{"$f":"HPO_Check!F43","v":""}]
[null,{"$f":"HPO_Check!E44","v":""},{"$f":"HPO_Check!D44","v":""},{"$f":"HPO_Check!F44","v":""}]
[null,{"$f":"HPO_Check!E45","v":""},{"$f":"HPO_Check!D45","v":""},{"$f":"HPO_Check!F45","v":""}]
[null,{"$f":"HPO_Check!E46","v":""},{"$f":"HPO_Check!D46","v":""},{"$f":"HPO_Check!F46","v":""}]
[null,{"$f":"HPO_Check!E47","v":""},{"$f":"HPO_Check!D47","v":""},{"$f":"HPO_Check!F47","v":""}]
[null,{"$f":"HPO_Check!E48","v":""},{"$f":"HPO_Check!D48","v":""},{"$f":"HPO_Check!F48","v":""}]
[null,{"$f":"HPO_Check!E49","v":""},{"$f":"HPO_Check!D49","v":""},{"$f":"HPO_Check!F49","v":""}]
[null,{"$f":"HPO_Check!E50","v":""}]
[]
[]
[]
[]
[]
[]
[]
[]
[]
[]
[]
[]
[]
[]
[]
[]
[]
[]
[]
[716,null,"Awaiting Samples",false,"Exome-Duo",null,"Prov Test","prov@ahs.ca","0","GC test","gc@ahs.ca","0","0","0","0","intellectual disability, mild; autism; tall stature","HP:0001256; HP:0000717; HP:0000098","Test information","None","0",false,false,null,false,false,false,null,null,null,null,null,null,null,null,null,"2024-04-09T11:27:59"]

{"sheet":"Inputs_Update","index":12,"n_rows":712,"n_cols":36,"rows_kept":712,"cut":false,"hidden":true,"merged":[[1,0,1,4]]}
["This Sheet is Lab Use Only",null,null,null,null,"Blue cells are used for macros\nYellow cells are uploaded to the database\nOrange cells are concatenated with existing information in the database and then uploaded"]
["Update Form",null,null,null,null,"If importing from previous version check that G4 corresponds to these values: 1=Panel, 2=single, 3=duo, 4=trio 5= other"]
["Case_Details info","Value","Table","Field","Notes","Test info","Value","Table","Field","Notes","Family member","Value","Table","Field","Notes","Add information","Value","Table","Field","Notes"]
["index first name",{"$f":"Update!D7","v":0},"Look up - Patient","First_Name",null,"Approach",0,"Case_Details","Approach","1=Panel, 2=single, 3=duo, 4=trio 5= other","first name",{"$f":"Update!$D$28","v":0},"Patient","First_Name",null,"HPO terms",{"$f":"Update!D49","v":0},"Used for HPO validation"]
["index last name",{"$f":"Update!I7","v":0},"Look up - Patient","Last_Name",null,"Ongoing pregnancy",false,"Case_Details","Ongoing_Pregnancy",null,"last name",{"$f":"Update!$I$28","v":0},"Patient","Last_Name",null,"Genes",{"$f":"Update!H49","v":0},"Case_Details","Gene_List"]
["index DOB",{"$f":"Update!D10","v":"00:00:00"},"Look up - Patient","DOB",null,"Genes",{"$f":"Update!$M$17","v":0},"Case_Details","Gene_List",null,"ethnic background",{"$f":"Update!$N$28","v":0},"Patient","Ethnic_Background",null,"Notes",{"$f":"Update!L49","v":0},"Case_Details","Added_Notes"]
["Case number",{"$f":"Update!I10","v":0},"Look up - Patient","Tiger_Case_ID",null,"Reason for genes",{"$f":"Update!$M$21","v":0},"Case_Details","Gene_List_Notes",null,"email",{"$f":"Update!$D$34","v":0},"Patient","Email"]
["Reason for request",0,"Case_Details","Add_Why","1=add family member, 2=genes, 3= phenotype, 4=reanalysis, 5=other","Epilepsy",false,"Case_Details","Panel_List",null,"phone",{"$f":"Update!$I$34","v":0},"Patient","Phone"]
[null,null,null,null,null,"Charcot-Marie-Tooth",false,"Case_Details","Panel_List",null,"DOB",{"$f":"Update!$D$30","v":"00:00:00"},"Patient","DOB"]
[null,null,null,null,null,"Retinal Dystrophy",false,"Case_Details","Panel_List",null,"PHN",{"$f":"Update!$I$30","v":0},"Patient","PHN"]
[null,null,null,null,null,"Complex Immune Dysregulation",false,"Case_Details","Panel_List",null,"Province",{"$f":"Update!$I$32","v":0},"Patient","Province"]
[null,null,"Case:",null,null,"Growth and Related Disorders",false,"Case_Details","Panel_List",null,"Sex",{"$f":"Update!$N$30","v":0},"Patient","Sex"]
[null,null,"TIGER716",null,null,"Ataxia",false,"Case_Details","Panel_List",null,"Gender",{"$f":"Update!$N$32","v":0},"Patient","Gender"]
[null,null,null,null,null,"Spastic Paraplegia",false,"Case_Details","Panel_List",null,"Research Future &\n Research Database",false,"Patient","Research_Recontact\nResearch_Database"]
[null,null,null,null,null,"Spastic Ataxia",false,"Case_Details","Panel_List",null,"Relationship",0,"Patient","Relationship","1=mother, 2=father, 3=sibling, 4=other"]
[null,null,null,null,null,null,null,null,null,null,"Phenotype",0,"Patient","Phenotype","1=affected, 2=not affected, 3=partially affected, 4=uncertain"]
[null,null,null,null,null,null,null,null,null,null,"stem cell",false,"Patient","Stem_Cells"]
[null,null,null,null,null,null,null,null,null,null,"blood transfusion",false,"Patient","Blood_Transfusion"]
[null,null,null,null,null,null,null,null,null,null,"ACMG genes",false,"Patient","Secondary_Analysis"]
[null,null,null,null,null,null,null,null,null,null,"notes",{"$f":"Update!$D$42","v":0},"Patient","Notes"]
[null,null,null,null,null,null,null,null,null,null,"Clinical Data Sharing",false,"Patient","Clinical_Data_Sharing"]
[null,null,null,null,null,null,null,null,null,null,null,{"$f":"LEFT(L10, 5)","v":"0"},"Patient","Relationship","If the relationship is sibling or other, the first 5 digits of the PHN are added to the relationship so that family members can be distinguished from one another"]
[]
[]
[]
[]
[]
[]
["Abnormal facial shape"," pes planus"]
[]
[null,"IDs","Approved Terms","Unapproved Terms","Comma separated list of approved terms","Comma separated list of approved IDs"]
[null,{"$f":"HPO_Check!E100","v":""},{"$f":"HPO_Check!D100","v":""},{"$f":"HPO_Check!F100","v":""},{"$f":"IFERROR(_xlfn.TEXTJOIN(\"; \", TRUE, C32:C99),\"\")","v":""},{"$f":"IFERROR(_xlfn.TEXTJOIN(\"; \", TRUE, B32:B99),\"\")","v":""}]
[null,{"$f":"HPO_Check!E101","v":""},{"$f":"HPO_Check!D101","v":""},{"$f":"HPO_Check!F101","v":""},"Uploaded to Case_Details HPO_List (concatenated)","Uploaded to Case_Details HPO_ID_List (concatenated)"]
[null,{"$f":"HPO_Check!E102","v":""},{"$f":"HPO_Check!D102","v":""},{"$f":"HPO_Check!F102","v":""}]
[null,{"$f":"HPO_Check!E103","v":""},{"$f":"HPO_Check!D103","v":""},{"$f":"HPO_Check!F103","v":""}]
[null,{"$f":"HPO_Check!E104","v":""},{"$f":"HPO_Check!D104","v":""},{"$f":"HPO_Check!F104","v":""}]
[null,{"$f":"HPO_Check!E105","v":""},{"$f":"HPO_Check!D105","v":""},{"$f":"HPO_Check!F105","v":""}]
[null,{"$f":"HPO_Check!E106","v":""},{"$f":"HPO_Check!D106","v":""},{"$f":"HPO_Check!F106","v":""}]
[null,{"$f":"HPO_Check!E107","v":""},{"$f":"HPO_Check!D107","v":""},{"$f":"HPO_Check!F107","v":""}]
[null,{"$f":"HPO_Check!E108","v":""},{"$f":"HPO_Check!D108","v":""},{"$f":"HPO_Check!F108","v":""}]
[null,{"$f":"HPO_Check!E109","v":""},{"$f":"HPO_Check!D109","v":""},{"$f":"HPO_Check!F109","v":""}]
[null,{"$f":"HPO_Check!E110","v":""},{"$f":"HPO_Check!D110","v":""},{"$f":"HPO_Check!F110","v":""}]
[null,{"$f":"HPO_Check!E111","v":""},{"$f":"HPO_Check!D111","v":""},{"$f":"HPO_Check!F111","v":""}]
[null,{"$f":"HPO_Check!E112","v":""},{"$f":"HPO_Check!D112","v":""},{"$f":"HPO_Check!F112","v":""}]
[null,{"$f":"HPO_Check!E113","v":""},{"$f":"HPO_Check!D113","v":""},{"$f":"HPO_Check!F113","v":""}]
[null,{"$f":"HPO_Check!E114","v":""},{"$f":"HPO_Check!D114","v":""},{"$f":"HPO_Check!F114","v":""}]
[null,{"$f":"HPO_Check!E115","v":""},{"$f":"HPO_Check!D115","v":""},{"$f":"HPO_Check!F115","v":""}]
[null,{"$f":"HPO_Check!E116","v":""},{"$f":"HPO_Check!D116","v":""},{"$f":"HPO_Check!F116","v":""}]
[null,{"$f":"HPO_Check!E117","v":""},{"$f":"HPO_Check!D117","v":""},{"$f":"HPO_Check!F117","v":""}]
[null,{"$f":"HPO_Check!E118","v":""},{"$f":"HPO_Check!D118","v":""},{"$f":"HPO_Check!F118","v":""}]
[null,{"$f":"HPO_Check!E119","v":""},{"$f":"HPO_Check!D119","v":""},{"$f":"HPO_Check!F119","v":""}]
[null,{"$f":"HPO_Check!E120","v":""},{"$f":"HPO_Check!D120","v":""},{"$f":"HPO_Check!F120","v":""}]
[null,{"$f":"HPO_Check!E121","v":""},{"$f":"HPO_Check!D121","v":""},{"$f":"HPO_Check!F121","v":""}]
[null,{"$f":"HPO_Check!E122","v":""},{"$f":"HPO_Check!D122","v":""},{"$f":"HPO_Check!F122","v":""}]
[null,{"$f":"HPO_Check!E123","v":""},{"$f":"HPO_Check!D123","v":""},{"$f":"HPO_Check!F123","v":""}]
[null,{"$f":"HPO_Check!E124","v":""},{"$f":"HPO_Check!D124","v":""},{"$f":"HPO_Check!F124","v":""}]
[null,{"$f":"HPO_Check!E125","v":""},{"$f":"HPO_Check!D125","v":""},{"$f":"HPO_Check!F125","v":""}]
[null,{"$f":"HPO_Check!E126","v":""},{"$f":"HPO_Check!D126","v":""},{"$f":"HPO_Check!F126","v":""}]
[null,{"$f":"HPO_Check!E127","v":""},{"$f":"HPO_Check!D127","v":""},{"$f":"HPO_Check!F127","v":""}]
[null,{"$f":"HPO_Check!E128","v":""},{"$f":"HPO_Check!D128","v":""},{"$f":"HPO_Check!F128","v":""}]
[null,{"$f":"HPO_Check!E129","v":""},{"$f":"HPO_Check!D129","v":""},{"$f":"HPO_Check!F129","v":""}]
[null,{"$f":"HPO_Check!E130","v":""},{"$f":"HPO_Check!D130","v":""},{"$f":"HPO_Check!F130","v":""}]
[null,{"$f":"HPO_Check!E131","v":""},{"$f":"HPO_Check!D131","v":""},{"$f":"HPO_Check!F33","v":""}]
[null,{"$f":"HPO_Check!E132","v":""},{"$f":"HPO_Check!D132","v":""},{"$f":"HPO_Check!F34","v":""}]
[null,{"$f":"HPO_Check!E133","v":""},{"$f":"HPO_Check!D133","v":""},{"$f":"HPO_Check!F35","v":""}]
[null,{"$f":"HPO_Check!E134","v":""},null,{"$f":"HPO_Check!F36","v":""}]
[null,{"$f":"HPO_Check!E135","v":""},null,{"$f":"HPO_Check!F37","v":""}]
[null,{"$f":"HPO_Check!E136","v":""}]
[null,{"$f":"HPO_Check!E137","v":""}]
[null,{"$f":"HPO_Check!E138","v":""}]
[null,{"$f":"HPO_Check!E139","v":""}]
[null,{"$f":"HPO_Check!E140","v":""}]
[null,{"$f":"HPO_Check!E141","v":""}]
[null,{"$f":"HPO_Check!E142","v":""}]
[null,{"$f":"HPO_Check!E143","v":""}]
[null,{"$f":"HPO_Check!E144","v":""}]
[null,{"$f":"HPO_Check!E145","v":""}]
[null,{"$f":"HPO_Check!E146","v":""}]
[null,{"$f":"HPO_Check!E147","v":""}]
[null,{"$f":"HPO_Check!E148","v":""}]
[null,{"$f":"HPO_Check!E149","v":""}]
[null,{"$f":"HPO_Check!E150","v":""}]
[null,{"$f":"HPO_Check!E151","v":""}]
[null,{"$f":"HPO_Check!E152","v":""}]
[null,{"$f":"HPO_Check!E153","v":""}]
[null,{"$f":"HPO_Check!E154","v":""}]
[null,{"$f":"HPO_Check!E155","v":""}]
[null,{"$f":"HPO_Check!E156","v":""}]
[null,{"$f":"HPO_Check!E157","v":""}]
[null,{"$f":"HPO_Check!E158","v":""}]
[null,{"$f":"HPO_Check!E159","v":""}]
[null,{"$f":"HPO_Check!E160","v":""}]
[null,{"$f":"HPO_Check!E161","v":""}]
[null,{"$f":"HPO_Check!E162","v":""}]
[null,{"$f":"HPO_Check!E163","v":""}]
[null,{"$f":"HPO_Check!E164","v":""}]
[null,{"$f":"HPO_Check!E165","v":""}]
[null,{"$f":"HPO_Check!E166","v":""}]
[null,{"$f":"HPO_Check!E167","v":""}]
[null,{"$f":"HPO_Check!E168","v":""}]
[716,"TIGER716","Awaiting Samples",false,"Exome-Duo, ",null,"Prov Test","prov@ahs.ca","0","GC test","gc@ahs.ca","0","0","0, ","0. ","intellectual disability, mild; autism; tall stature, Abnormal facial shape; pes planus","HP:0001256; HP:0000717; HP:0000098, HP:0001999; HP:0001763","Test information, test","None","0",false,false,"Other",false,false,false,null,null,null,null,null,null,null,null,null,"2024-04-09T11:27:59"]
[]
[null,{"$f":"HPO_Check!E171","v":""}]
[null,{"$f":"HPO_Check!E172","v":""}]
[null,{"$f":"HPO_Check!E173","v":""}]
[null,{"$f":"HPO_Check!E174","v":""}]
[null,{"$f":"HPO_Check!E175","v":""}]
[null,{"$f":"HPO_Check!E176","v":""}]
[null,{"$f":"HPO_Check!E177","v":""}]
[null,{"$f":"HPO_Check!E178","v":""}]
[null,{"$f":"HPO_Check!E179","v":""}]
[null,{"$f":"HPO_Check!E180","v":""}]
[null,{"$f":"HPO_Check!E181","v":""}]
[null,{"$f":"HPO_Check!E182","v":""}]
[null,{"$f":"HPO_Check!E183","v":""}]
[null,{"$f":"HPO_Check!E184","v":""}]
[null,{"$f":"HPO_Check!E185","v":""}]
[null,{"$f":"HPO_Check!E186","v":""}]
[null,{"$f":"HPO_Check!E187","v":""}]
[null,{"$f":"HPO_Check!E188","v":""}]
[null,{"$f":"HPO_Check!E189","v":""}]
[null,{"$f":"HPO_Check!E190","v":""}]
[null,{"$f":"HPO_Check!E191","v":""}]
[null,{"$f":"HPO_Check!E192","v":""}]
[null,{"$f":"HPO_Check!E193","v":""}]
[null,{"$f":"HPO_Check!E194","v":""}]
[null,{"$f":"HPO_Check!E195","v":""}]
[null,{"$f":"HPO_Check!E196","v":""}]
[null,{"$f":"HPO_Check!E197","v":""}]
[null,{"$f":"HPO_Check!E198","v":""}]
[null,{"$f":"HPO_Check!E199","v":""}]
[null,{"$f":"HPO_Check!E200","v":""}]
[null,{"$f":"HPO_Check!E201","v":0}]
[null,{"$f":"HPO_Check!E202","v":0}]
[null,{"$f":"HPO_Check!E203","v":0}]
[null,{"$f":"HPO_Check!E204","v":0}]
[null,{"$f":"HPO_Check!E205","v":0}]
[null,{"$f":"HPO_Check!E206","v":0}]
[null,{"$f":"HPO_Check!E207","v":0}]
[null,{"$f":"HPO_Check!E208","v":0}]
[null,{"$f":"HPO_Check!E209","v":0}]
[null,{"$f":"HPO_Check!E210","v":0}]
[null,{"$f":"HPO_Check!E211","v":0}]
[null,{"$f":"HPO_Check!E212","v":0}]
[null,{"$f":"HPO_Check!E213","v":0}]
[null,{"$f":"HPO_Check!E214","v":0}]
[null,{"$f":"HPO_Check!E215","v":0}]
[null,{"$f":"HPO_Check!E216","v":0}]
[null,{"$f":"HPO_Check!E217","v":0}]
[null,{"$f":"HPO_Check!E218","v":0}]
[null,{"$f":"HPO_Check!E219","v":0}]
[null,{"$f":"HPO_Check!E220","v":0}]
[null,{"$f":"HPO_Check!E221","v":0}]
[null,{"$f":"HPO_Check!E222","v":0}]
[null,{"$f":"HPO_Check!E223","v":0}]
[null,{"$f":"HPO_Check!E224","v":0}]
[null,{"$f":"HPO_Check!E225","v":0}]
[null,{"$f":"HPO_Check!E226","v":0}]
[null,{"$f":"HPO_Check!E227","v":0}]
[null,{"$f":"HPO_Check!E228","v":0}]
[null,{"$f":"HPO_Check!E229","v":0}]
[null,{"$f":"HPO_Check!E230","v":0}]
[null,{"$f":"HPO_Check!E231","v":0}]
[null,{"$f":"HPO_Check!E232","v":0}]
[null,{"$f":"HPO_Check!E233","v":0}]
[null,{"$f":"HPO_Check!E234","v":0}]
[null,{"$f":"HPO_Check!E235","v":0}]
[null,{"$f":"HPO_Check!E236","v":0}]
[null,{"$f":"HPO_Check!E237","v":0}]
[null,{"$f":"HPO_Check!E238","v":0}]
[null,{"$f":"HPO_Check!E239","v":0}]
[null,{"$f":"HPO_Check!E240","v":0}]
[null,{"$f":"HPO_Check!E241","v":0}]
[null,{"$f":"HPO_Check!E242","v":0}]
[null,{"$f":"HPO_Check!E243","v":0}]
[null,{"$f":"HPO_Check!E244","v":0}]
[null,{"$f":"HPO_Check!E245","v":0}]
[null,{"$f":"HPO_Check!E246","v":0}]
[null,{"$f":"HPO_Check!E247","v":0}]
[null,{"$f":"HPO_Check!E248","v":0}]
[null,{"$f":"HPO_Check!E249","v":0}]
[null,{"$f":"HPO_Check!E250","v":0}]
[null,{"$f":"HPO_Check!E251","v":0}]
[null,{"$f":"HPO_Check!E252","v":0}]
[null,{"$f":"HPO_Check!E253","v":0}]
[null,{"$f":"HPO_Check!E254","v":0}]
[null,{"$f":"HPO_Check!E255","v":0}]
[null,{"$f":"HPO_Check!E256","v":0}]
[null,{"$f":"HPO_Check!E257","v":0}]
[null,{"$f":"HPO_Check!E258","v":0}]
[null,{"$f":"HPO_Check!E259","v":0}]
[null,{"$f":"HPO_Check!E260","v":0}]
[null,{"$f":"HPO_Check!E261","v":0}]
[null,{"$f":"HPO_Check!E262","v":0}]
[null,{"$f":"HPO_Check!E263","v":0}]
[null,{"$f":"HPO_Check!E264","v":0}]
[null,{"$f":"HPO_Check!E265","v":0}]
[null,{"$f":"HPO_Check!E266","v":0}]
[null,{"$f":"HPO_Check!E267","v":0}]
[null,{"$f":"HPO_Check!E268","v":0}]
[null,{"$f":"HPO_Check!E269","v":0}]
[null,{"$f":"HPO_Check!E270","v":0}]
[null,{"$f":"HPO_Check!E271","v":0}]
[null,{"$f":"HPO_Check!E272","v":0}]
[null,{"$f":"HPO_Check!E273","v":0}]
[null,{"$f":"HPO_Check!E274","v":0}]
[null,{"$f":"HPO_Check!E275","v":0}]
[null,{"$f":"HPO_Check!E276","v":0}]
[null,{"$f":"HPO_Check!E277","v":0}]
[null,{"$f":"HPO_Check!E278","v":0}]
[null,{"$f":"HPO_Check!E279","v":0}]
[null,{"$f":"HPO_Check!E280","v":0}]
[null,{"$f":"HPO_Check!E281","v":0}]
[null,{"$f":"HPO_Check!E282","v":0}]
[null,{"$f":"HPO_Check!E283","v":0}]
[null,{"$f":"HPO_Check!E284","v":0}]
[null,{"$f":"HPO_Check!E285","v":0}]
[null,{"$f":"HPO_Check!E286","v":0}]
[null,{"$f":"HPO_Check!E287","v":0}]
[null,{"$f":"HPO_Check!E288","v":0}]
[null,{"$f":"HPO_Check!E289","v":0}]
[null,{"$f":"HPO_Check!E290","v":0}]
[null,{"$f":"HPO_Check!E291","v":0}]
[null,{"$f":"HPO_Check!E292","v":0}]
[null,{"$f":"HPO_Check!E293","v":0}]
[null,{"$f":"HPO_Check!E294","v":0}]
[null,{"$f":"HPO_Check!E295","v":0}]
[null,{"$f":"HPO_Check!E296","v":0}]
[null,{"$f":"HPO_Check!E297","v":0}]
[null,{"$f":"HPO_Check!E298","v":0}]
[null,{"$f":"HPO_Check!E299","v":0}]
[null,{"$f":"HPO_Check!E300","v":0}]
[null,{"$f":"HPO_Check!E301","v":0}]
[null,{"$f":"HPO_Check!E302","v":0}]
[null,{"$f":"HPO_Check!E303","v":0}]
[null,{"$f":"HPO_Check!E304","v":0}]
[null,{"$f":"HPO_Check!E305","v":0}]
[null,{"$f":"HPO_Check!E306","v":0}]
[null,{"$f":"HPO_Check!E307","v":0}]
[null,{"$f":"HPO_Check!E308","v":0}]
[null,{"$f":"HPO_Check!E309","v":0}]
[null,{"$f":"HPO_Check!E310","v":0}]
[null,{"$f":"HPO_Check!E311","v":0}]
[null,{"$f":"HPO_Check!E312","v":0}]
[null,{"$f":"HPO_Check!E313","v":0}]
[null,{"$f":"HPO_Check!E314","v":0}]
[null,{"$f":"HPO_Check!E315","v":0}]
[null,{"$f":"HPO_Check!E316","v":0}]
[null,{"$f":"HPO_Check!E317","v":0}]
[null,{"$f":"HPO_Check!E318","v":0}]
[null,{"$f":"HPO_Check!E319","v":0}]
[null,{"$f":"HPO_Check!E320","v":0}]
[null,{"$f":"HPO_Check!E321","v":0}]
[null,{"$f":"HPO_Check!E322","v":0}]
[null,{"$f":"HPO_Check!E323","v":0}]
[null,{"$f":"HPO_Check!E324","v":0}]
[null,{"$f":"HPO_Check!E325","v":0}]
[null,{"$f":"HPO_Check!E326","v":0}]
[null,{"$f":"HPO_Check!E327","v":0}]
[null,{"$f":"HPO_Check!E328","v":0}]
[null,{"$f":"HPO_Check!E329","v":0}]
[null,{"$f":"HPO_Check!E330","v":0}]
[null,{"$f":"HPO_Check!E331","v":0}]
[null,{"$f":"HPO_Check!E332","v":0}]
[null,{"$f":"HPO_Check!E333","v":0}]
[null,{"$f":"HPO_Check!E334","v":0}]
[null,{"$f":"HPO_Check!E335","v":0}]
[null,{"$f":"HPO_Check!E336","v":0}]
[null,{"$f":"HPO_Check!E337","v":0}]
[null,{"$f":"HPO_Check!E338","v":0}]
[null,{"$f":"HPO_Check!E339","v":0}]
[null,{"$f":"HPO_Check!E340","v":0}]
[null,{"$f":"HPO_Check!E341","v":0}]
[null,{"$f":"HPO_Check!E342","v":0}]
[null,{"$f":"HPO_Check!E343","v":0}]
[null,{"$f":"HPO_Check!E344","v":0}]
[null,{"$f":"HPO_Check!E345","v":0}]
[null,{"$f":"HPO_Check!E346","v":0}]
[null,{"$f":"HPO_Check!E347","v":0}]
[null,{"$f":"HPO_Check!E348","v":0}]
[null,{"$f":"HPO_Check!E349","v":0}]
[null,{"$f":"HPO_Check!E350","v":0}]
[null,{"$f":"HPO_Check!E351","v":0}]
[null,{"$f":"HPO_Check!E352","v":0}]
[null,{"$f":"HPO_Check!E353","v":0}]
[null,{"$f":"HPO_Check!E354","v":0}]
[null,{"$f":"HPO_Check!E355","v":0}]
[null,{"$f":"HPO_Check!E356","v":0}]
[null,{"$f":"HPO_Check!E357","v":0}]
[null,{"$f":"HPO_Check!E358","v":0}]
[null,{"$f":"HPO_Check!E359","v":0}]
[null,{"$f":"HPO_Check!E360","v":0}]
[null,{"$f":"HPO_Check!E361","v":0}]
[null,{"$f":"HPO_Check!E362","v":0}]
[null,{"$f":"HPO_Check!E363","v":0}]
[null,{"$f":"HPO_Check!E364","v":0}]
[null,{"$f":"HPO_Check!E365","v":0}]
[null,{"$f":"HPO_Check!E366","v":0}]
[null,{"$f":"HPO_Check!E367","v":0}]
[null,{"$f":"HPO_Check!E368","v":0}]
[null,{"$f":"HPO_Check!E369","v":0}]
[null,{"$f":"HPO_Check!E370","v":0}]
[null,{"$f":"HPO_Check!E371","v":0}]
[null,{"$f":"HPO_Check!E372","v":0}]
[null,{"$f":"HPO_Check!E373","v":0}]
[null,{"$f":"HPO_Check!E374","v":0}]
[null,{"$f":"HPO_Check!E375","v":0}]
[null,{"$f":"HPO_Check!E376","v":0}]
[null,{"$f":"HPO_Check!E377","v":0}]
[null,{"$f":"HPO_Check!E378","v":0}]
[null,{"$f":"HPO_Check!E379","v":0}]
[null,{"$f":"HPO_Check!E380","v":0}]
[null,{"$f":"HPO_Check!E381","v":0}]
[null,{"$f":"HPO_Check!E382","v":0}]
[null,{"$f":"HPO_Check!E383","v":0}]
[null,{"$f":"HPO_Check!E384","v":0}]
[null,{"$f":"HPO_Check!E385","v":0}]
[null,{"$f":"HPO_Check!E386","v":0}]
[null,{"$f":"HPO_Check!E387","v":0}]
[null,{"$f":"HPO_Check!E388","v":0}]
[null,{"$f":"HPO_Check!E389","v":0}]
[null,{"$f":"HPO_Check!E390","v":0}]
[null,{"$f":"HPO_Check!E391","v":0}]
[null,{"$f":"HPO_Check!E392","v":0}]
[null,{"$f":"HPO_Check!E393","v":0}]
[null,{"$f":"HPO_Check!E394","v":0}]
[null,{"$f":"HPO_Check!E395","v":0}]
[null,{"$f":"HPO_Check!E396","v":0}]
[null,{"$f":"HPO_Check!E397","v":0}]
[null,{"$f":"HPO_Check!E398","v":0}]
[null,{"$f":"HPO_Check!E399","v":0}]
[null,{"$f":"HPO_Check!E400","v":0}]
[null,{"$f":"HPO_Check!E401","v":0}]
[null,{"$f":"HPO_Check!E402","v":0}]
[null,{"$f":"HPO_Check!E403","v":0}]
[null,{"$f":"HPO_Check!E404","v":0}]
[null,{"$f":"HPO_Check!E405","v":0}]
[null,{"$f":"HPO_Check!E406","v":0}]
[null,{"$f":"HPO_Check!E407","v":0}]
[null,{"$f":"HPO_Check!E408","v":0}]
[null,{"$f":"HPO_Check!E409","v":0}]
[null,{"$f":"HPO_Check!E410","v":0}]
[null,{"$f":"HPO_Check!E411","v":0}]
[null,{"$f":"HPO_Check!E412","v":0}]
[null,{"$f":"HPO_Check!E413","v":0}]
[null,{"$f":"HPO_Check!E414","v":0}]
[null,{"$f":"HPO_Check!E415","v":0}]
[null,{"$f":"HPO_Check!E416","v":0}]
[null,{"$f":"HPO_Check!E417","v":0}]
[null,{"$f":"HPO_Check!E418","v":0}]
[null,{"$f":"HPO_Check!E419","v":0}]
[null,{"$f":"HPO_Check!E420","v":0}]
[null,{"$f":"HPO_Check!E421","v":0}]
[null,{"$f":"HPO_Check!E422","v":0}]
[null,{"$f":"HPO_Check!E423","v":0}]
[null,{"$f":"HPO_Check!E424","v":0}]
[null,{"$f":"HPO_Check!E425","v":0}]
[null,{"$f":"HPO_Check!E426","v":0}]
[null,{"$f":"HPO_Check!E427","v":0}]
[null,{"$f":"HPO_Check!E428","v":0}]
[null,{"$f":"HPO_Check!E429","v":0}]
[null,{"$f":"HPO_Check!E430","v":0}]
[null,{"$f":"HPO_Check!E431","v":0}]
[null,{"$f":"HPO_Check!E432","v":0}]
[null,{"$f":"HPO_Check!E433","v":0}]
[null,{"$f":"HPO_Check!E434","v":0}]
[null,{"$f":"HPO_Check!E435","v":0}]
[null,{"$f":"HPO_Check!E436","v":0}]
[null,{"$f":"HPO_Check!E437","v":0}]
[null,{"$f":"HPO_Check!E438","v":0}]
[null,{"$f":"HPO_Check!E439","v":0}]
[null,{"$f":"HPO_Check!E440","v":0}]
[null,{"$f":"HPO_Check!E441","v":0}]
[null,{"$f":"HPO_Check!E442","v":0}]
[null,{"$f":"HPO_Check!E443","v":0}]
[null,{"$f":"HPO_Check!E444","v":0}]
[null,{"$f":"HPO_Check!E445","v":0}]
[null,{"$f":"HPO_Check!E446","v":0}]
[null,{"$f":"HPO_Check!E447","v":0}]
[null,{"$f":"HPO_Check!E448","v":0}]
[null,{"$f":"HPO_Check!E449","v":0}]
[null,{"$f":"HPO_Check!E450","v":0}]
[null,{"$f":"HPO_Check!E451","v":0}]
[null,{"$f":"HPO_Check!E452","v":0}]
[null,{"$f":"HPO_Check!E453","v":0}]
[null,{"$f":"HPO_Check!E454","v":0}]
[null,{"$f":"HPO_Check!E455","v":0}]
[null,{"$f":"HPO_Check!E456","v":0}]
[null,{"$f":"HPO_Check!E457","v":0}]
[null,{"$f":"HPO_Check!E458","v":0}]
[null,{"$f":"HPO_Check!E459","v":0}]
[null,{"$f":"HPO_Check!E460","v":0}]
[null,{"$f":"HPO_Check!E461","v":0}]
[null,{"$f":"HPO_Check!E462","v":0}]
[null,{"$f":"HPO_Check!E463","v":0}]
[null,{"$f":"HPO_Check!E464","v":0}]
[null,{"$f":"HPO_Check!E465","v":0}]
[null,{"$f":"HPO_Check!E466","v":0}]
[null,{"$f":"HPO_Check!E467","v":0}]
[null,{"$f":"HPO_Check!E468","v":0}]
[null,{"$f":"HPO_Check!E469","v":0}]
[null,{"$f":"HPO_Check!E470","v":0}]
[null,{"$f":"HPO_Check!E373","v":0}]
[null,{"$f":"HPO_Check!E374","v":0}]
[null,{"$f":"HPO_Check!E375","v":0}]
[null,{"$f":"HPO_Check!E376","v":0}]
[null,{"$f":"HPO_Check!E377","v":0}]
[null,{"$f":"HPO_Check!E378","v":0}]
[null,{"$f":"HPO_Check!E379","v":0}]
[null,{"$f":"HPO_Check!E380","v":0}]
[null,{"$f":"HPO_Check!E381","v":0}]
[null,{"$f":"HPO_Check!E382","v":0}]
[null,{"$f":"HPO_Check!E383","v":0}]
[null,{"$f":"HPO_Check!E384","v":0}]
[null,{"$f":"HPO_Check!E385","v":0}]
[null,{"$f":"HPO_Check!E386","v":0}]
[null,{"$f":"HPO_Check!E387","v":0}]
[null,{"$f":"HPO_Check!E388","v":0}]
[null,{"$f":"HPO_Check!E389","v":0}]
[null,{"$f":"HPO_Check!E390","v":0}]
[null,{"$f":"HPO_Check!E391","v":0}]
[null,{"$f":"HPO_Check!E392","v":0}]
[null,{"$f":"HPO_Check!E393","v":0}]
[null,{"$f":"HPO_Check!E394","v":0}]
[null,{"$f":"HPO_Check!E395","v":0}]
[null,{"$f":"HPO_Check!E396","v":0}]
[null,{"$f":"HPO_Check!E397","v":0}]
[null,{"$f":"HPO_Check!E398","v":0}]
[null,{"$f":"HPO_Check!E399","v":0}]
[null,{"$f":"HPO_Check!E400","v":0}]
[null,{"$f":"HPO_Check!E401","v":0}]
[null,{"$f":"HPO_Check!E402","v":0}]
[null,{"$f":"HPO_Check!E403","v":0}]
[null,{"$f":"HPO_Check!E404","v":0}]
[null,{"$f":"HPO_Check!E405","v":0}]
[null,{"$f":"HPO_Check!E406","v":0}]
[null,{"$f":"HPO_Check!E407","v":0}]
[null,{"$f":"HPO_Check!E408","v":0}]
[null,{"$f":"HPO_Check!E409","v":0}]
[null,{"$f":"HPO_Check!E410","v":0}]
[null,{"$f":"HPO_Check!E411","v":0}]
[null,{"$f":"HPO_Check!E412","v":0}]
[null,{"$f":"HPO_Check!E413","v":0}]
[null,{"$f":"HPO_Check!E414","v":0}]
[null,{"$f":"HPO_Check!E415","v":0}]
[null,{"$f":"HPO_Check!E416","v":0}]
[null,{"$f":"HPO_Check!E417","v":0}]
[null,{"$f":"HPO_Check!E418","v":0}]
[null,{"$f":"HPO_Check!E419","v":0}]
[null,{"$f":"HPO_Check!E420","v":0}]
[null,{"$f":"HPO_Check!E421","v":0}]
[null,{"$f":"HPO_Check!E422","v":0}]
[null,{"$f":"HPO_Check!E423","v":0}]
[null,{"$f":"HPO_Check!E424","v":0}]
[null,{"$f":"HPO_Check!E425","v":0}]
[null,{"$f":"HPO_Check!E426","v":0}]
[null,{"$f":"HPO_Check!E427","v":0}]
[null,{"$f":"HPO_Check!E428","v":0}]
[null,{"$f":"HPO_Check!E429","v":0}]
[null,{"$f":"HPO_Check!E430","v":0}]
[null,{"$f":"HPO_Check!E431","v":0}]
[null,{"$f":"HPO_Check!E432","v":0}]
[null,{"$f":"HPO_Check!E433","v":0}]
[null,{"$f":"HPO_Check!E434","v":0}]
[null,{"$f":"HPO_Check!E435","v":0}]
[null,{"$f":"HPO_Check!E436","v":0}]
[null,{"$f":"HPO_Check!E437","v":0}]
[null,{"$f":"HPO_Check!E438","v":0}]
[null,{"$f":"HPO_Check!E439","v":0}]
[null,{"$f":"HPO_Check!E440","v":0}]
[null,{"$f":"HPO_Check!E441","v":0}]
[null,{"$f":"HPO_Check!E442","v":0}]
[null,{"$f":"HPO_Check!E443","v":0}]
[null,{"$f":"HPO_Check!E444","v":0}]
[null,{"$f":"HPO_Check!E445","v":0}]
[null,{"$f":"HPO_Check!E446","v":0}]
[null,{"$f":"HPO_Check!E447","v":0}]
[null,{"$f":"HPO_Check!E448","v":0}]
[null,{"$f":"HPO_Check!E449","v":0}]
[null,{"$f":"HPO_Check!E450","v":0}]
[null,{"$f":"HPO_Check!E451","v":0}]
[null,{"$f":"HPO_Check!E452","v":0}]
[null,{"$f":"HPO_Check!E453","v":0}]
[null,{"$f":"HPO_Check!E454","v":0}]
[null,{"$f":"HPO_Check!E455","v":0}]
[null,{"$f":"HPO_Check!E456","v":0}]
[null,{"$f":"HPO_Check!E457","v":0}]
[null,{"$f":"HPO_Check!E458","v":0}]
[null,{"$f":"HPO_Check!E459","v":0}]
[null,{"$f":"HPO_Check!E460","v":0}]
[null,{"$f":"HPO_Check!E461","v":0}]
[null,{"$f":"HPO_Check!E462","v":0}]
[null,{"$f":"HPO_Check!E463","v":0}]
[null,{"$f":"HPO_Check!E464","v":0}]
[null,{"$f":"HPO_Check!E465","v":0}]
[null,{"$f":"HPO_Check!E466","v":0}]
[null,{"$f":"HPO_Check!E467","v":0}]
[null,{"$f":"HPO_Check!E468","v":0}]
[null,{"$f":"HPO_Check!E469","v":0}]
[null,{"$f":"HPO_Check!E470","v":0}]
[null,{"$f":"HPO_Check!E471","v":0}]
[null,{"$f":"HPO_Check!E472","v":0}]
[null,{"$f":"HPO_Check!E473","v":0}]
[null,{"$f":"HPO_Check!E474","v":0}]
[null,{"$f":"HPO_Check!E475","v":0}]
[null,{"$f":"HPO_Check!E476","v":0}]
[null,{"$f":"HPO_Check!E477","v":0}]
[null,{"$f":"HPO_Check!E478","v":0}]
[null,{"$f":"HPO_Check!E479","v":0}]
[null,{"$f":"HPO_Check!E480","v":0}]
[null,{"$f":"HPO_Check!E481","v":0}]
[null,{"$f":"HPO_Check!E482","v":0}]
[null,{"$f":"HPO_Check!E483","v":0}]
[null,{"$f":"HPO_Check!E484","v":0}]
[null,{"$f":"HPO_Check!E485","v":0}]
[null,{"$f":"HPO_Check!E486","v":0}]
[null,{"$f":"HPO_Check!E487","v":0}]
[null,{"$f":"HPO_Check!E488","v":0}]
[null,{"$f":"HPO_Check!E489","v":0}]
[null,{"$f":"HPO_Check!E490","v":0}]
[null,{"$f":"HPO_Check!E491","v":0}]
[null,{"$f":"HPO_Check!E492","v":0}]
[null,{"$f":"HPO_Check!E493","v":0}]
[null,{"$f":"HPO_Check!E494","v":0}]
[null,{"$f":"HPO_Check!E495","v":0}]
[null,{"$f":"HPO_Check!E496","v":0}]
[null,{"$f":"HPO_Check!E497","v":0}]
[null,{"$f":"HPO_Check!E498","v":0}]
[null,{"$f":"HPO_Check!E499","v":0}]
[null,{"$f":"HPO_Check!E500","v":0}]
[null,{"$f":"HPO_Check!E501","v":0}]
[null,{"$f":"HPO_Check!E502","v":0}]
[null,{"$f":"HPO_Check!E503","v":0}]
[null,{"$f":"HPO_Check!E504","v":0}]
[null,{"$f":"HPO_Check!E505","v":0}]
[null,{"$f":"HPO_Check!E506","v":0}]
[null,{"$f":"HPO_Check!E507","v":0}]
[null,{"$f":"HPO_Check!E508","v":0}]
[null,{"$f":"HPO_Check!E509","v":0}]
[null,{"$f":"HPO_Check!E510","v":0}]
[null,{"$f":"HPO_Check!E511","v":0}]
[null,{"$f":"HPO_Check!E512","v":0}]
[null,{"$f":"HPO_Check!E513","v":0}]
[null,{"$f":"HPO_Check!E514","v":0}]
[null,{"$f":"HPO_Check!E515","v":0}]
[null,{"$f":"HPO_Check!E516","v":0}]
[null,{"$f":"HPO_Check!E517","v":0}]
[null,{"$f":"HPO_Check!E518","v":0}]
[null,{"$f":"HPO_Check!E519","v":0}]
[null,{"$f":"HPO_Check!E520","v":0}]
[null,{"$f":"HPO_Check!E521","v":0}]
[null,{"$f":"HPO_Check!E522","v":0}]
[null,{"$f":"HPO_Check!E523","v":0}]
[null,{"$f":"HPO_Check!E524","v":0}]
[null,{"$f":"HPO_Check!E525","v":0}]
[null,{"$f":"HPO_Check!E526","v":0}]
[null,{"$f":"HPO_Check!E527","v":0}]
[null,{"$f":"HPO_Check!E528","v":0}]
[null,{"$f":"HPO_Check!E529","v":0}]
[null,{"$f":"HPO_Check!E530","v":0}]
[null,{"$f":"HPO_Check!E531","v":0}]
[null,{"$f":"HPO_Check!E532","v":0}]
[null,{"$f":"HPO_Check!E533","v":0}]
[null,{"$f":"HPO_Check!E534","v":0}]
[null,{"$f":"HPO_Check!E535","v":0}]
[null,{"$f":"HPO_Check!E536","v":0}]
[null,{"$f":"HPO_Check!E537","v":0}]
[null,{"$f":"HPO_Check!E538","v":0}]
[null,{"$f":"HPO_Check!E539","v":0}]
[null,{"$f":"HPO_Check!E540","v":0}]
[null,{"$f":"HPO_Check!E541","v":0}]
[null,{"$f":"HPO_Check!E542","v":0}]
[null,{"$f":"HPO_Check!E543","v":0}]
[null,{"$f":"HPO_Check!E544","v":0}]
[null,{"$f":"HPO_Check!E545","v":0}]
[null,{"$f":"HPO_Check!E546","v":0}]
[null,{"$f":"HPO_Check!E547","v":0}]
[null,{"$f":"HPO_Check!E548","v":0}]
[null,{"$f":"HPO_Check!E549","v":0}]
[null,{"$f":"HPO_Check!E550","v":0}]
[null,{"$f":"HPO_Check!E551","v":0}]
[null,{"$f":"HPO_Check!E552","v":0}]
[null,{"$f":"HPO_Check!E553","v":0}]
[null,{"$f":"HPO_Check!E554","v":0}]
[null,{"$f":"HPO_Check!E555","v":0}]
[null,{"$f":"HPO_Check!E556","v":0}]
[null,{"$f":"HPO_Check!E557","v":0}]
[null,{"$f":"HPO_Check!E558","v":0}]
[null,{"$f":"HPO_Check!E559","v":0}]
[null,{"$f":"HPO_Check!E560","v":0}]
[null,{"$f":"HPO_Check!E561","v":0}]
[null,{"$f":"HPO_Check!E562","v":0}]
[null,{"$f":"HPO_Check!E563","v":0}]
[null,{"$f":"HPO_Check!E564","v":0}]
[null,{"$f":"HPO_Check!E565","v":0}]
[null,{"$f":"HPO_Check!E566","v":0}]
[null,{"$f":"HPO_Check!E567","v":0}]
[null,{"$f":"HPO_Check!E568","v":0}]
[null,{"$f":"HPO_Check!E569","v":0}]
[null,{"$f":"HPO_Check!E570","v":0}]
[null,{"$f":"HPO_Check!E571","v":0}]
[null,{"$f":"HPO_Check!E572","v":0}]
[null,{"$f":"HPO_Check!E573","v":0}]
[null,{"$f":"HPO_Check!E574","v":0}]
[null,{"$f":"HPO_Check!E575","v":0}]
[null,{"$f":"HPO_Check!E576","v":0}]
[null,{"$f":"HPO_Check!E577","v":0}]
[null,{"$f":"HPO_Check!E578","v":0}]
[null,{"$f":"HPO_Check!E579","v":0}]
[null,{"$f":"HPO_Check!E580","v":0}]
[null,{"$f":"HPO_Check!E581","v":0}]
[null,{"$f":"HPO_Check!E582","v":0}]
[null,{"$f":"HPO_Check!E583","v":0}]
[null,{"$f":"HPO_Check!E584","v":0}]
[null,{"$f":"HPO_Check!E585","v":0}]
[null,{"$f":"HPO_Check!E586","v":0}]
[null,{"$f":"HPO_Check!E587","v":0}]
[null,{"$f":"HPO_Check!E588","v":0}]
[null,{"$f":"HPO_Check!E589","v":0}]
[null,{"$f":"HPO_Check!E590","v":0}]
[null,{"$f":"HPO_Check!E591","v":0}]
[null,{"$f":"HPO_Check!E592","v":0}]
[null,{"$f":"HPO_Check!E593","v":0}]
[null,{"$f":"HPO_Check!E594","v":0}]
[null,{"$f":"HPO_Check!E595","v":0}]
[null,{"$f":"HPO_Check!E596","v":0}]
[null,{"$f":"HPO_Check!E597","v":0}]
[null,{"$f":"HPO_Check!E598","v":0}]
[null,{"$f":"HPO_Check!E599","v":0}]
[null,{"$f":"HPO_Check!E600","v":0}]
[null,{"$f":"HPO_Check!E601","v":0}]
[null,{"$f":"HPO_Check!E602","v":0}]
[null,{"$f":"HPO_Check!E603","v":0}]
[null,{"$f":"HPO_Check!E604","v":0}]
[null,{"$f":"HPO_Check!E605","v":0}]
[null,{"$f":"HPO_Check!E606","v":0}]
[null,{"$f":"HPO_Check!E607","v":0}]
[null,{"$f":"HPO_Check!E608","v":0}]
[null,{"$f":"HPO_Check!E609","v":0}]
[null,{"$f":"HPO_Check!E610","v":0}]
[null,{"$f":"HPO_Check!E611","v":0}]
[null,{"$f":"HPO_Check!E612","v":0}]
[null,{"$f":"HPO_Check!E613","v":0}]
[null,{"$f":"HPO_Check!E614","v":0}]
[null,{"$f":"HPO_Check!E615","v":0}]
[null,{"$f":"HPO_Check!E616","v":0}]
[null,{"$f":"HPO_Check!E617","v":0}]
[null,{"$f":"HPO_Check!E618","v":0}]
[null,{"$f":"HPO_Check!E619","v":0}]
[null,{"$f":"HPO_Check!E620","v":0}]
[null,{"$f":"HPO_Check!E621","v":0}]
[null,{"$f":"HPO_Check!E622","v":0}]
[null,{"$f":"HPO_Check!E623","v":0}]
[null,{"$f":"HPO_Check!E624","v":0}]
[null,{"$f":"HPO_Check!E625","v":0}]
[null,{"$f":"HPO_Check!E626","v":0}]
[null,{"$f":"HPO_Check!E627","v":0}]
[null,{"$f":"HPO_Check!E628","v":0}]
[null,{"$f":"HPO_Check!E629","v":0}]
[null,{"$f":"HPO_Check!E630","v":0}]
[null,{"$f":"HPO_Check!E631","v":0}]
[null,{"$f":"HPO_Check!E632","v":0}]
[null,{"$f":"HPO_Check!E633","v":0}]
[null,{"$f":"HPO_Check!E634","v":0}]
[null,{"$f":"HPO_Check!E635","v":0}]
[null,{"$f":"HPO_Check!E636","v":0}]
[null,{"$f":"HPO_Check!E637","v":0}]
[null,{"$f":"HPO_Check!E638","v":0}]
[null,{"$f":"HPO_Check!E639","v":0}]
[null,{"$f":"HPO_Check!E640","v":0}]
[null,{"$f":"HPO_Check!E641","v":0}]
[null,{"$f":"HPO_Check!E642","v":0}]
[null,{"$f":"HPO_Check!E643","v":0}]
[null,{"$f":"HPO_Check!E644","v":0}]
[null,{"$f":"HPO_Check!E645","v":0}]
[null,{"$f":"HPO_Check!E646","v":0}]
[null,{"$f":"HPO_Check!E647","v":0}]
[null,{"$f":"HPO_Check!E648","v":0}]
[null,{"$f":"HPO_Check!E649","v":0}]
[null,{"$f":"HPO_Check!E650","v":0}]
[null,{"$f":"HPO_Check!E651","v":0}]
[null,{"$f":"HPO_Check!E652","v":0}]
[null,{"$f":"HPO_Check!E653","v":0}]
[null,{"$f":"HPO_Check!E654","v":0}]
[null,{"$f":"HPO_Check!E655","v":0}]
[null,{"$f":"HPO_Check!E656","v":0}]
[null,{"$f":"HPO_Check!E657","v":0}]
[null,{"$f":"HPO_Check!E658","v":0}]
[null,{"$f":"HPO_Check!E659","v":0}]
[null,{"$f":"HPO_Check!E660","v":0}]
[null,{"$f":"HPO_Check!E661","v":0}]
[null,{"$f":"HPO_Check!E662","v":0}]
[null,{"$f":"HPO_Check!E663","v":0}]
[null,{"$f":"HPO_Check!E664","v":0}]
[null,{"$f":"HPO_Check!E665","v":0}]
[null,{"$f":"HPO_Check!E666","v":0}]
[null,{"$f":"HPO_Check!E667","v":0}]
[null,{"$f":"HPO_Check!E668","v":0}]
[null,{"$f":"HPO_Check!E669","v":0}]
[null,{"$f":"HPO_Check!E670","v":0}]
[null,{"$f":"HPO_Check!E671","v":0}]
[null,{"$f":"HPO_Check!E672","v":0}]
[null,{"$f":"HPO_Check!E673","v":0}]
[null,{"$f":"HPO_Check!E674","v":0}]
[null,{"$f":"HPO_Check!E675","v":0}]
[null,{"$f":"HPO_Check!E676","v":0}]
[null,{"$f":"HPO_Check!E677","v":0}]
[null,{"$f":"HPO_Check!E678","v":0}]
[null,{"$f":"HPO_Check!E679","v":0}]
[null,{"$f":"HPO_Check!E680","v":0}]
[null,{"$f":"HPO_Check!E681","v":0}]
[null,{"$f":"HPO_Check!E682","v":0}]

{"sheet":"Disease_Gene_List","index":13,"n_rows":4145,"n_cols":10,"rows_kept":4145,"cut":false,"hidden":true,"merged":[[7,9,7,13]]}
[]
[]
["GENE",null,"User List",null,"No Match?"]
["A2M"]
["A2ML1",0,{"$f":"UPPER(B5)","v":"0"},null,{"$f":"ISERROR(INDEX($A$4:$A$4180, MATCH(C5, $A$4:$A$4180, 0)))","v":true}]
["A4GALT",null,"",null,true]
["AAAS",null,"",null,true]
["AAGAB",null,"",null,true,null,null,null,null,"This Sheet is Lab Use Only"]
["AARS1",null,"",null,true]
["AARS2",null,"",null,true]
["AASS",null,"",null,true]
["ABAT",null,"",null,true]
["ABCA1",null,"",null,true]
["ABCA12",null,"",null,true]
["ABCA2",null,"",null,true]
["ABCA3",null,"",null,true]
["ABCA4",null,"",null,true]
["ABCA5",null,"",null,true]
["ABCB1",null,"",null,true]
["ABCB11",null,"",null,true]
["ABCB4",null,"",null,true]
["ABCB6",null,"",null,true]
["ABCB7",null,"",null,true]
["ABCC1",null,"",null,true]
["ABCC11",null,"",null,true]
["ABCC2",null,"",null,true]
["ABCC6",null,"",null,true]
["ABCC8",null,"",null,true]
["ABCC9",null,"",null,true]
["ABCD1",null,"",null,true]
["ABCD3",null,"",null,true]
["ABCD4",null,"",null,true]
["ABCG2",null,"",null,true]
["ABCG5",null,"",null,true]
["ABCG8",null,"",null,true]
["ABHD12",null,"",null,true]
["ABHD5",null,"",null,true]
["ABL1",null,"",null,true]
["ABO",null,"",null,true]
["ACAD8",null,"",null,true]
["ACAD9",null,"",null,true]
["ACADM",null,"",null,true]
["ACADS",null,"",null,true]
["ACADSB",null,"",null,true]
["ACADVL",null,"",null,true]
["ACAN",null,"",null,true]
["ACAT1",null,"",null,true]
["ACBD5",null,"",null,true]
["ACD",null,"",null,true]
["ACE",null,"",null,true]
["ACER3",null,"",null,true]
["ACHE",null,"",null,true]
["ACKR1",null,"",null,true]
["ACO2",null,"",null,true]
["ACOX1",null,"",null,true]
["ACOX2",null,"",null,true]
["ACP4",null,"",null,true]
["ACP5",null,"",null,true]
["ACSF3",null,"",null,true]
["ACSL4",null,"",null,true]
["ACTA1",null,"",null,true]
["ACTA2",null,"",null,true]
["ACTB",null,"",null,true]
["ACTC1",null,"",null,true]
["ACTG1",null,"",null,true]
["ACTG2",null,"",null,true]
["ACTL6B",null,"",null,true]
["ACTN1",null,"",null,true]
["ACTN2",null,{"$f":"UPPER(B69)","v":""},null,{"$f":"ISERROR(INDEX($A$4:$A$4180, MATCH(C69, $A$4:$A$4180, 0)))","v":true}]
["ACTN3",null,"",null,true]
["ACTN4",null,"",null,true]
["ACVR1",null,"",null,true]
["ACVR2B",null,"",null,true]
["ACVRL1",null,"",null,true]
["ACY1",null,"",null,true]
["ADA",null,"",null,true]
["ADA2",null,"",null,true]
["ADAM10",null,"",null,true]
["ADAM17",null,"",null,true]
["ADAM22",null,"",null,true]
["ADAM9",null,"",null,true]
["ADAMTS10",null,"",null,true]
["ADAMTS13",null,"",null,true]
["ADAMTS17",null,"",null,true]
["ADAMTS18",null,"",null,true]
["ADAMTS2",null,"",null,true]
["ADAMTS3",null,"",null,true]
["ADAMTSL2",null,"",null,true]
["ADAMTSL4",null,"",null,true]
["ADAR",null,"",null,true]
["ADARB1",null,"",null,true]
["ADAT3",null,"",null,true]
["ADCY1",null,"",null,true]
["ADCY3",null,"",null,true]
["ADCY5",null,"",null,true]
["ADCY6",null,"",null,true]
["ADD3",null,"",null,true]
["ADGRE2",null,"",null,true]
["ADGRG1",null,"",null,true]
["ADGRG2",null,"",null,true]
["ADGRG6",null,"",null,true]
["ADGRV1",null,"",null,true]
["ADH5",null,"",null,true]
["ADK",null,"",null,true]
["ADNP",null,"",null,true]
["ADPRS",null,"",null,true]
["ADRA2B",null,"",null,true]
["ADRA2C",null,"",null,true]
["ADRB1",null,"",null,true]
["ADRB2",null,"",null,true]
["ADSL",null,"",null,true]
["ADSS1",null,"",null,true]
["AEBP1",null,"",null,true]
["AFF2",null,"",null,true]
["AFF4",null,"",null,true]
["AFG3L2",null,"",null,true]
["AFP",null,"",null,true]
["AGA",null,"",null,true]
["AGBL1",null,"",null,true]
["AGBL5",null,"",null,true]
["AGK",null,"",null,true]
["AGL",null,"",null,true]
["AGPAT2",null,"",null,true]
["AGPS",null,"",null,true]
["AGRN",null,"",null,true]
["AGT",null,"",null,true]
["AGTPBP1",null,"",null,true]
["AGTR1",null,"",null,true]
["AGTR2",null,"",null,true]
["AGXT",null,"",null,true]
["AGXT2",null,"",null,true]
["AHCY",null,"",null,true]
["AHDC1",null,{"$f":"UPPER(B133)","v":""},null,{"$f":"ISERROR(INDEX($A$4:$A$4180, MATCH(C133, $A$4:$A$4180, 0)))","v":true}]
["AHI1",null,"",null,true]
["AHR",null,"",null,true]
["AHSG",null,"",null,true]
["AICDA",null,"",null,true]
["AIFM1",null,"",null,true]
["AIMP1",null,"",null,true]
["AIMP2",null,"",null,true]
["AIP",null,"",null,true]
["AIPL1",null,"",null,true]
["AIRE",null,"",null,true]
["AK1",null,"",null,true]
["AK2",null,"",null,true]
["AK7",null,"",null,true]
["AKAP9",null,"",null,true]
["AKR1C2",null,"",null,true]
["AKR1D1",null,"",null,true]
["AKT1",null,"",null,true]
["AKT2",null,"",null,true]
["AKT3",null,"",null,true]
["ALAD",null,"",null,true]
["ALAS2",null,"",null,true]
["ALB",null,"",null,true]
["ALDH18A1",null,"",null,true]
["ALDH1A3",null,"",null,true]
["ALDH3A2",null,"",null,true]
["ALDH4A1",null,"",null,true]
["ALDH5A1",null,"",null,true]
["ALDH6A1",null,"",null,true]
["ALDH7A1",null,"",null,true]
["ALDOA",null,"",null,true]
["ALDOB",null,"",null,true]
["ALG1",null,"",null,true]
["ALG11",null,"",null,true]
["ALG12",null,"",null,true]
["ALG13",null,"",null,true]
["ALG14",null,"",null,true]
["ALG2",null,"",null,true]
["ALG3",null,"",null,true]
["ALG6",null,"",null,true]
["ALG8",null,"",null,true]
["ALG9",null,"",null,true]
["ALK",null,"",null,true]
["ALKBH8",null,"",null,true]
["ALMS1",null,"",null,true]
["ALOX12B",null,"",null,true]
["ALOX5",null,"",null,true]
["ALOXE3",null,"",null,true]
["ALPK1",null,"",null,true]
["ALPK3",null,"",null,true]
["ALPL",null,"",null,true]
["ALS2",null,"",null,true]
["ALS2CL",null,"",null,true]
["ALX1",null,"",null,true]
["ALX3",null,"",null,true]
["ALX4",null,"",null,true]
["AMACR",null,"",null,true]
["AMBN",null,"",null,true]
["AMELX",null,"",null,true]
["AMER1",null,"",null,true]
["AMH",null,"",null,true]
["AMHR2",null,"",null,true]
["AMMECR1",null,"",null,true]
["AMN",null,"",null,true]
["AMPD1",null,{"$f":"UPPER(B197)","v":""},null,{"$f":"ISERROR(INDEX($A$4:$A$4180, MATCH(C197, $A$4:$A$4180, 0)))","v":true}]
["AMPD2",null,"",null,true]
["AMPD3",null,"",null,true]
["AMT",null,"",null,true]
["AMTN",null,"",null,true]
["ANAPC1",null,"",null,true]
["ANG",null,"",null,true]
["ANGPTL3",null,"",null,true]
["ANK1",null,"",null,true]
["ANK2",null,"",null,true]
["ANK3",null,"",null,true]
["ANKH",null,"",null,true]
["ANKLE2",null,"",null,true]
["ANKRD11",null,"",null,true]
["ANKRD26",null,"",null,true]
["ANKS6",null,"",null,true]
["ANLN",null,"",null,true]
["ANO10",null,"",null,true]
["ANO3",null,"",null,true]
["ANO5",null,"",null,true]
["ANO6",null,"",null,true]
["ANOS1",null,"",null,true]
["ANTXR1",null,"",null,true]
["ANTXR2",null,"",null,true]
["ANXA11",null,"",null,true]
["AP1B1",null,"",null,true]
["AP1S1",null,"",null,true]
["AP1S2",null,"",null,true]
["AP1S3",null,"",null,true]
["AP2M1",null,"",null,true]
["AP2S1",null,"",null,true]
["AP3B1",null,"",null,true]
["AP3B2",null,"",null,true]
["AP3D1",null,"",null,true]
["AP4B1",null,"",null,true]
["AP4E1",null,"",null,true]
["AP4M1",null,"",null,true]
["AP4S1",null,"",null,true]
["AP5Z1",null,"",null,true]
["APC",null,"",null,true]
["APC2",null,"",null,true]
["APCDD1",null,"",null,true]
["APOA1",null,"",null,true]
["APOA2",null,"",null,true]
["APOA5",null,"",null,true]
["APOB",null,"",null,true]
["APOC2",null,"",null,true]
["APOC3",null,"",null,true]
["APOE",null,"",null,true]
["APP",null,"",null,true]
["APPL1",null,"",null,true]
["APRT",null,"",null,true]
["APTX",null,"",null,true]
["AQP1",null,"",null,true]
["AQP2",null,"",null,true]
["AQP3",null,"",null,true]
["AR",null,"",null,true]
["ARCN1",null,"",null,true]
["ARF1",null,"",null,true]
["ARFGEF2",null,"",null,true]
["ARG1",null,"",null,true]
["ARHGAP31",null,"",null,true]
["ARHGDIA",null,"",null,true]
["ARHGEF1",null,"",null,true]
["ARHGEF10",null,{"$f":"UPPER(B261)","v":""},null,{"$f":"ISERROR(INDEX($A$4:$A$4180, MATCH(C261, $A$4:$A$4180, 0)))","v":true}]
["ARHGEF18",null,"",null,true]
["ARHGEF2",null,"",null,true]
["ARHGEF6",null,"",null,true]
["ARHGEF9",null,"",null,true]
["ARID1A",null,"",null,true]
["ARID1B",null,"",null,true]
["ARID2",null,"",null,true]
["ARL13B",null,"",null,true]
["ARL2",null,"",null,true]
["ARL2BP",null,"",null,true]
["ARL3",null,"",null,true]
["ARL6",null,"",null,true]
["ARL6IP1",null,"",null,true]
["ARMC2",null,"",null,true]
["ARMC5",null,"",null,true]
["ARMC9",null,"",null,true]
["ARNT2",null,"",null,true]
["ARPC1B",null,"",null,true]
["ARR3",null,"",null,true]
["ARSA",null,"",null,true]
["ARSB",null,"",null,true]
["ARSL",null,"",null,true]
["ART4",null,"",null,true]
["ARV1",null,"",null,true]
["ARX",null,"",null,true]
["ASAH1",null,"",null,true]
["ASB10",null,"",null,true]
["ASCC1",null,"",null,true]
["ASCL1",null,"",null,true]
["ASH1L",null,"",null,true]
["ASIP",null,"",null,true]
["ASL",null,"",null,true]
["ASNS",null,"",null,true]
["ASPA",null,"",null,true]
["ASPH",null,"",null,true]
["ASPM",null,"",null,true]
["ASPRV1",null,"",null,true]
["ASS1",null,"",null,true]
["ASXL1",null,"",null,true]
["ASXL2",null,"",null,true]
["ASXL3",null,"",null,true]
["ATAD1",null,"",null,true]
["ATAD3A",null,"",null,true]
["ATCAY",null,"",null,true]
["ATF6",null,"",null,true]
["ATIC",null,"",null,true]
["ATL1",null,"",null,true]
["ATL3",null,"",null,true]
["ATM",null,"",null,true]
["ATN1",null,"",null,true]
["ATOH7",null,"",null,true]
["ATP11C",null,"",null,true]
["ATP13A2",null,"",null,true]
["ATP1A1",null,"",null,true]
["ATP1A2",null,"",null,true]
["ATP1A3",null,"",null,true]
["ATP2A1",null,"",null,true]
["ATP2A2",null,"",null,true]
["ATP2B3",null,"",null,true]
["ATP2C1",null,"",null,true]
["ATP5F1A",null,"",null,true]
["ATP5F1E",null,"",null,true]
["ATP5MK",null,"",null,true]
["ATP6AP1",null,{"$f":"UPPER(B325)","v":""},null,{"$f":"ISERROR(INDEX($A$4:$A$4180, MATCH(C325, $A$4:$A$4180, 0)))","v":true}]
["ATP6AP2",null,"",null,true]
["ATP6V0A2",null,"",null,true]
["ATP6V0A4",null,"",null,true]
["ATP6V1A",null,"",null,true]
["ATP6V1B1",null,"",null,true]
["ATP6V1B2",null,"",null,true]
["ATP6V1E1",null,"",null,true]
["ATP7A",null,"",null,true]
["ATP7B",null,"",null,true]
["ATP8A2",null,"",null,true]
["ATP8B1",null,"",null,true]
["ATPAF2",null,"",null,true]
["ATR",null,"",null,true]
["ATRX",null,"",null,true]
["ATXN1",null,"",null,true]
["ATXN10",null,"",null,true]
["ATXN2",null,"",null,true]
["ATXN3",null,"",null,true]
["ATXN7",null,"",null,true]
["ATXN8",null,"",null,true]
["ATXN8OS",null,"",null,true]
["AUH",null,"",null,true]
["AURKC",null,"",null,true]
["AUTS2",null,"",null,true]
["AVIL",null,"",null,true]
["AVP",null,"",null,true]
["AVPR2",null,"",null,true]
["AXIN1",null,"",null,true]
["AXIN2",null,"",null,true]
["B2M",null,"",null,true]
["B3GALNT1",null,"",null,true]
["B3GALNT2",null,"",null,true]
["B3GALT6",null,"",null,true]
["B3GAT3",null,"",null,true]
["B3GLCT",null,"",null,true]
["B4GALNT1",null,"",null,true]
["B4GALT1",null,"",null,true]
["B4GALT7",null,"",null,true]
["B4GAT1",null,"",null,true]
["B9D1",null,"",null,true]
["B9D2",null,"",null,true]
["BAAT",null,"",null,true]
["BACH2",null,"",null,true]
["BAG3",null,"",null,true]
["BANF1",null,"",null,true]
["BAP1",null,"",null,true]
["BARD1",null,"",null,true]
["BBIP1",null,"",null,true]
["BBS1",null,"",null,true]
["BBS10",null,"",null,true]
["BBS12",null,"",null,true]
["BBS2",null,"",null,true]
["BBS4",null,"",null,true]
["BBS5",null,"",null,true]
["BBS7",null,"",null,true]
["BBS9",null,"",null,true]
["BCAM",null,"",null,true]
["BCAP31",null,"",null,true]
["BCAT2",null,"",null,true]
["BCHE",null,"",null,true]
["BCKDHA",null,"",null,true]
["BCKDHB",null,"",null,true]
["BCKDK",null,"",null,true]
["BCL10",null,{"$f":"UPPER(B389)","v":""},null,{"$f":"ISERROR(INDEX($A$4:$A$4180, MATCH(C389, $A$4:$A$4180, 0)))","v":true}]
["BCL11A",null,"",null,true]
["BCL11B",null,"",null,true]
["BCO1",null,"",null,true]
["BCOR",null,"",null,true]
["BCORL1",null,"",null,true]
["BCR",null,"",null,true]
["BCS1L",null,"",null,true]
["BDNF",null,"",null,true]
["BDP1",null,"",null,true]
["BEAN1",null,"",null,true]
["BEST1",null,"",null,true]
["BFSP1",null,"",null,true]
["BFSP2",null,"",null,true]
["BGN",null,"",null,true]
["BHLHA9",null,"",null,true]
["BHLHE41",null,"",null,true]
["BICC1",null,"",null,true]
["BICD2",null,"",null,true]
["BIN1",null,"",null,true]
["BLK",null,"",null,true]
["BLM",null,"",null,true]
["BLNK",null,"",null,true]
["BLOC1S3",null,"",null,true]
["BLOC1S5",null,"",null,true]
["BLOC1S6",null,"",null,true]
["BLVRA",null,"",null,true]
["BMP1",null,"",null,true]
["BMP15",null,"",null,true]
["BMP2",null,"",null,true]
["BMP4",null,"",null,true]
["BMPER",null,"",null,true]
["BMPR1A",null,"",null,true]
["BMPR1B",null,"",null,true]
["BMPR2",null,"",null,true]
["BMS1",null,"",null,true]
["BNC1",null,"",null,true]
["BNC2",null,"",null,true]
["BOLA3",null,"",null,true]
["BPGM",null,"",null,true]
["BPNT2",null,"",null,true]
["BPTF",null,"",null,true]
["BRAF",null,"",null,true]
["BRAT1",null,"",null,true]
["BRCA1",null,"",null,true]
["BRCA2",null,"",null,true]
["BRDT",null,"",null,true]
["BRF1",null,"",null,true]
["BRIP1",null,"",null,true]
["BRPF1",null,"",null,true]
["BRWD3",null,"",null,true]
["BSCL2",null,"",null,true]
["BSG",null,"",null,true]
["BSND",null,"",null,true]
["BTD",null,"",null,true]
["BTG4",null,"",null,true]
["BTK",null,"",null,true]
["BUB1B",null,"",null,true]
["BVES",null,"",null,true]
["C11ORF80",null,"",null,true]
["C12ORF4",null,"",null,true]
["C12ORF57",null,"",null,true]
["C19ORF12",null,"",null,true]
["C1QA",null,"",null,true]
["C1QB",null,{"$f":"UPPER(B453)","v":""},null,{"$f":"ISERROR(INDEX($A$4:$A$4180, MATCH(C453, $A$4:$A$4180, 0)))","v":true}]
["C1QBP",null,"",null,true]
["C1QC",null,"",null,true]
["C1QTNF5",null,"",null,true]
["C1R",null,"",null,true]
["C1S",null,"",null,true]
["C2",null,"",null,true]
["C2CD3",null,"",null,true]
["C3",null,"",null,true]
["C4A",null,"",null,true]
["C4B",null,"",null,true]
["C5",null,"",null,true]
["C6",null,"",null,true]
["C7",null,"",null,true]
["C8A",null,"",null,true]
["C8B",null,"",null,true]
["C9",null,"",null,true]
["C9ORF72",null,"",null,true]
["CA12",null,"",null,true]
["CA2",null,"",null,true]
["CA4",null,"",null,true]
["CA5A",null,"",null,true]
["CA8",null,"",null,true]
["CABP2",null,"",null,true]
["CABP4",null,"",null,true]
["CACNA1A",null,"",null,true]
["CACNA1B",null,"",null,true]
["CACNA1C",null,"",null,true]
["CACNA1D",null,"",null,true]
["CACNA1E",null,"",null,true]
["CACNA1F",null,"",null,true]
["CACNA1G",null,"",null,true]
["CACNA1H",null,"",null,true]
["CACNA1S",null,"",null,true]
["CACNA2D2",null,"",null,true]
["CACNA2D4",null,"",null,true]
["CACNB2",null,"",null,true]
["CACNB4",null,"",null,true]
["CACNG2",null,"",null,true]
["CAD",null,"",null,true]
["CALCRL",null,"",null,true]
["CALM1",null,"",null,true]
["CALM2",null,"",null,true]
["CALM3",null,"",null,true]
["CALR3",null,"",null,true]
["CAMK2A",null,"",null,true]
["CAMK2B",null,"",null,true]
["CAMK2G",null,"",null,true]
["CAMTA1",null,"",null,true]
["CANT1",null,"",null,true]
["CAPN1",null,"",null,true]
["CAPN3",null,"",null,true]
["CAPN5",null,"",null,true]
["CARD11",null,"",null,true]
["CARD14",null,"",null,true]
["CARD8",null,"",null,true]
["CARD9",null,"",null,true]
["CARMIL2",null,"",null,true]
["CARS1",null,"",null,true]
["CARS2",null,"",null,true]
["CASK",null,"",null,true]
["CASP10",null,"",null,true]
["CASP14",null,"",null,true]
["CASP8",null,"",null,true]
["CASQ1",null,{"$f":"UPPER(B517)","v":""},null,{"$f":"ISERROR(INDEX($A$4:$A$4180, MATCH(C517, $A$4:$A$4180, 0)))","v":true}]
["CASQ2",null,"",null,true]
["CASR",null,"",null,true]
["CAST",null,"",null,true]
["CAT",null,"",null,true]
["CATSPER1",null,"",null,true]
["CAV1",null,"",null,true]
["CAV3",null,"",null,true]
["CAVIN1",null,"",null,true]
["CBL",null,"",null,true]
["CBLIF",null,"",null,true]
["CBS",null,"",null,true]
["CBX2",null,"",null,true]
["CC2D1A",null,"",null,true]
["CC2D2A",null,"",null,true]
["CCBE1",null,"",null,true]
["CCDC103",null,"",null,true]
["CCDC115",null,"",null,true]
["CCDC137",null,"",null,true]
["CCDC174",null,"",null,true]
["CCDC22",null,"",null,true]
["CCDC28B",null,"",null,true]
["CCDC32",null,"",null,true]
["CCDC39",null,"",null,true]
["CCDC40",null,"",null,true]
["CCDC47",null,"",null,true]
["CCDC50",null,"",null,true]
["CCDC65",null,"",null,true]
["CCDC78",null,"",null,true]
["CCDC8",null,"",null,true]
["CCDC88A",null,"",null,true]
["CCDC88C",null,"",null,true]
["CCM2",null,"",null,true]
["CCN6",null,"",null,true]
["CCND2",null,"",null,true]
["CCNF",null,"",null,true]
["CCNK",null,"",null,true]
["CCNO",null,"",null,true]
["CCNQ",null,"",null,true]
["CCT5",null,"",null,true]
["CD151",null,"",null,true]
["CD164",null,"",null,true]
["CD19",null,"",null,true]
["CD207",null,"",null,true]
["CD247",null,"",null,true]
["CD27",null,"",null,true]
["CD2AP",null,"",null,true]
["CD320",null,"",null,true]
["CD36",null,"",null,true]
["CD3D",null,"",null,true]
["CD3E",null,"",null,true]
["CD3G",null,"",null,true]
["CD4",null,"",null,true]
["CD40",null,"",null,true]
["CD40LG",null,"",null,true]
["CD44",null,"",null,true]
["CD46",null,"",null,true]
["CD55",null,"",null,true]
["CD59",null,"",null,true]
["CD70",null,"",null,true]
["CD79A",null,"",null,true]
["CD79B",null,"",null,true]
["CD81",null,"",null,true]
["CD8A",null,"",null,true]
["CD96",null,{"$f":"UPPER(B581)","v":""},null,{"$f":"ISERROR(INDEX($A$4:$A$4180, MATCH(C581, $A$4:$A$4180, 0)))","v":true}]
["CDAN1",null,"",null,true]
["CDC14A",null,"",null,true]
["CDC42",null,"",null,true]
["CDC45",null,"",null,true]
["CDC6",null,"",null,true]
["CDC73",null,"",null,true]
["CDCA7",null,"",null,true]
["CDH1",null,"",null,true]
["CDH11",null,"",null,true]
["CDH15",null,"",null,true]
["CDH2",null,"",null,true]
["CDH23",null,"",null,true]
["CDH3",null,"",null,true]
["CDHR1",null,"",null,true]
["CDIN1",null,"",null,true]
["CDK10",null,"",null,true]
["CDK13",null,"",null,true]
["CDK19",null,"",null,true]
["CDK4",null,"",null,true]
["CDK5",null,"",null,true]
["CDK5RAP2",null,"",null,true]
["CDK6",null,"",null,true]
["CDK8",null,"",null,true]
["CDKL5",null,"",null,true]
["CDKN1B",null,"",null,true]
["CDKN1C",null,"",null,true]
["CDKN2A",null,"",null,true]
["CDON",null,"",null,true]
["CDSN",null,"",null,true]
["CDT1",null,"",null,true]
["CEACAM16",null,"",null,true]
["CEBPA",null,"",null,true]
["CEBPE",null,"",null,true]
["CEL",null,"",null,true]
["CELA2A",null,"",null,true]
["CENPE",null,"",null,true]
["CENPF",null,"",null,true]
["CENPJ",null,"",null,true]
["CENPT",null,"",null,true]
["CEP112",null,"",null,true]
["CEP120",null,"",null,true]
["CEP135",null,"",null,true]
["CEP152",null,"",null,true]
["CEP164",null,"",null,true]
["CEP19",null,"",null,true]
["CEP250",null,"",null,true]
["CEP290",null,"",null,true]
["CEP41",null,"",null,true]
["CEP55",null,"",null,true]
["CEP57",null,"",null,true]
["CEP63",null,"",null,true]
["CEP78",null,"",null,true]
["CEP83",null,"",null,true]
["CEP85L",null,"",null,true]
["CERKL",null,"",null,true]
["CERS1",null,"",null,true]
["CERS3",null,"",null,true]
["CERT1",null,"",null,true]
["CES1",null,"",null,true]
["CETP",null,"",null,true]
["CFAP251",null,"",null,true]
["CFAP298",null,"",null,true]
["CFAP410",null,"",null,true]
["CFAP418",null,{"$f":"UPPER(B645)","v":""},null,{"$f":"ISERROR(INDEX($A$4:$A$4180, MATCH(C645, $A$4:$A$4180, 0)))","v":true}]
["CFAP43",null,"",null,true]
["CFAP44",null,"",null,true]
["CFAP53",null,"",null,true]
["CFAP57",null,"",null,true]
["CFAP58",null,"",null,true]
["CFAP65",null,"",null,true]
["CFAP69",null,"",null,true]
["CFAP70",null,"",null,true]
["CFB",null,"",null,true]
["CFC1",null,"",null,true]
["CFD",null,"",null,true]
["CFH",null,"",null,true]
["CFHR1",null,"",null,true]
["CFHR3",null,"",null,true]
["CFHR4",null,"",null,true]
["CFHR5",null,"",null,true]
["CFI",null,"",null,true]
["CFL2",null,"",null,true]
["CFP",null,"",null,true]
["CFTR",null,"",null,true]
["CHAMP1",null,"",null,true]
["CHAT",null,"",null,true]
["CHCHD10",null,"",null,true]
["CHCHD2",null,"",null,true]
["CHD1",null,"",null,true]
["CHD2",null,"",null,true]
["CHD3",null,"",null,true]
["CHD4",null,"",null,true]
["CHD7",null,"",null,true]
["CHD8",null,"",null,true]
["CHEK2",null,"",null,true]
["CHIT1",null,"",null,true]
["CHKB",null,"",null,true]
["CHM",null,"",null,true]
["CHMP1A",null,"",null,true]
["CHMP2B",null,"",null,true]
["CHMP4B",null,"",null,true]
["CHN1",null,"",null,true]
["CHP1",null,"",null,true]
["CHRDL1",null,"",null,true]
["CHRM3",null,"",null,true]
["CHRNA1",null,"",null,true]
["CHRNA2",null,"",null,true]
["CHRNA3",null,"",null,true]
["CHRNA4",null,"",null,true]
["CHRNA7",null,"",null,true]
["CHRNB1",null,"",null,true]
["CHRNB2",null,"",null,true]
["CHRND",null,"",null,true]
["CHRNE",null,"",null,true]
["CHRNG",null,"",null,true]
["CHST11",null,"",null,true]
["CHST14",null,"",null,true]
["CHST3",null,"",null,true]
["CHST6",null,"",null,true]
["CHST8",null,"",null,true]
["CHSY1",null,"",null,true]
["CHUK",null,"",null,true]
["CIB1",null,"",null,true]
["CIB2",null,"",null,true]
["CIBAR1",null,"",null,true]
["CIC",null,"",null,true]
["CIDEC",null,"",null,true]
["CIITA",null,{"$f":"UPPER(B709)","v":""},null,{"$f":"ISERROR(INDEX($A$4:$A$4180, MATCH(C709, $A$4:$A$4180, 0)))","v":true}]
["CILK1",null,"",null,true]
["CISD2",null,"",null,true]
["CIT",null,"",null,true]
["CITED2",null,"",null,true]
["CIZ1",null,"",null,true]
["CKAP2L",null,"",null,true]
["CLCC1",null,"",null,true]
["CLCF1",null,"",null,true]
["CLCN1",null,"",null,true]
["CLCN2",null,"",null,true]
["CLCN4",null,"",null,true]
["CLCN5",null,"",null,true]
["CLCN7",null,"",null,true]
["CLCNKA",null,"",null,true]
["CLCNKB",null,"",null,true]
["CLDN1",null,"",null,true]
["CLDN10",null,"",null,true]
["CLDN14",null,"",null,true]
["CLDN16",null,"",null,true]
["CLDN19",null,"",null,true]
["CLDN9",null,"",null,true]
["CLEC7A",null,"",null,true]
["CLIC2",null,"",null,true]
["CLIC5",null,"",null,true]
["CLMP",null,"",null,true]
["CLN3",null,"",null,true]
["CLN5",null,"",null,true]
["CLN6",null,"",null,true]
["CLN8",null,"",null,true]
["CLP1",null,"",null,true]
["CLPB",null,"",null,true]
["CLPP",null,"",null,true]
["CLPX",null,"",null,true]
["CLRN1",null,"",null,true]
["CLRN2",null,"",null,true]
["CLTC",null,"",null,true]
["CNBP",null,"",null,true]
["CNGA1",null,"",null,true]
["CNGA3",null,"",null,true]
["CNGB1",null,"",null,true]
["CNGB3",null,"",null,true]
["CNKSR2",null,"",null,true]
["CNNM2",null,"",null,true]
["CNNM4",null,"",null,true]
["CNOT1",null,"",null,true]
["CNOT2",null,"",null,true]
["CNOT3",null,"",null,true]
["CNP",null,"",null,true]
["CNPY3",null,"",null,true]
["CNTN1",null,"",null,true]
["CNTN2",null,"",null,true]
["CNTNAP1",null,"",null,true]
["CNTNAP2",null,"",null,true]
["COA3",null,"",null,true]
["COA5",null,"",null,true]
["COA6",null,"",null,true]
["COA7",null,"",null,true]
["COA8",null,"",null,true]
["COASY",null,"",null,true]
["COCH",null,"",null,true]
["COG1",null,"",null,true]
["COG2",null,"",null,true]
["COG4",null,"",null,true]
["COG5",null,{"$f":"UPPER(B773)","v":""},null,{"$f":"ISERROR(INDEX($A$4:$A$4180, MATCH(C773, $A$4:$A$4180, 0)))","v":true}]
["COG6",null,"",null,true]
["COG7",null,"",null,true]
["COG8",null,"",null,true]
["COL10A1",null,"",null,true]
["COL11A1",null,"",null,true]
["COL11A2",null,"",null,true]
["COL12A1",null,"",null,true]
["COL13A1",null,"",null,true]
["COL17A1",null,"",null,true]
["COL18A1",null,"",null,true]
["COL1A1",null,"",null,true]
["COL1A2",null,"",null,true]
["COL25A1",null,"",null,true]
["COL27A1",null,"",null,true]
["COL2A1",null,"",null,true]
["COL3A1",null,"",null,true]
["COL4A1",null,"",null,true]
["COL4A2",null,"",null,true]
["COL4A3",null,"",null,true]
["COL4A4",null,"",null,true]
["COL4A5",null,"",null,true]
["COL4A6",null,"",null,true]
["COL5A1",null,"",null,true]
["COL5A2",null,"",null,true]
["COL6A1",null,"",null,true]
["COL6A2",null,"",null,true]
["COL6A3",null,"",null,true]
["COL7A1",null,"",null,true]
["COL8A2",null,"",null,true]
["COL9A1",null,"",null,true]
["COL9A2",null,"",null,true]
["COL9A3",null,"",null,true]
["COLEC10",null,"",null,true]
["COLEC11",null,"",null,true]
["COLGALT1",null,"",null,true]
["COLQ",null,"",null,true]
["COMP",null,"",null,true]
["COMT",null,"",null,true]
["COPA",null,"",null,true]
["COPB2",null,"",null,true]
["COQ2",null,"",null,true]
["COQ4",null,"",null,true]
["COQ5",null,"",null,true]
["COQ6",null,"",null,true]
["COQ7",null,"",null,true]
["COQ8A",null,"",null,true]
["COQ8B",null,"",null,true]
["COQ9",null,"",null,true]
["CORIN",null,"",null,true]
["CORO1A",null,"",null,true]
["COX10",null,"",null,true]
["COX14",null,"",null,true]
["COX15",null,"",null,true]
["COX20",null,"",null,true]
["COX4I1",null,"",null,true]
["COX4I2",null,"",null,true]
["COX5A",null,"",null,true]
["COX6A1",null,"",null,true]
["COX6A2",null,"",null,true]
["COX6B1",null,"",null,true]
["COX7B",null,"",null,true]
["COX8A",null,"",null,true]
["CP",null,"",null,true]
["CPA6",null,{"$f":"UPPER(B837)","v":""},null,{"$f":"ISERROR(INDEX($A$4:$A$4180, MATCH(C837, $A$4:$A$4180, 0)))","v":true}]
["CPAMD8",null,"",null,true]
["CPLANE1",null,"",null,true]
["CPLX1",null,"",null,true]
["CPN1",null,"",null,true]
["CPOX",null,"",null,true]
["CPS1",null,"",null,true]
["CPSF1",null,"",null,true]
["CPT1A",null,"",null,true]
["CPT1C",null,"",null,true]
["CPT2",null,"",null,true]
["CR1",null,"",null,true]
["CR2",null,"",null,true]
["CRADD",null,"",null,true]
["CRAT",null,"",null,true]
["CRB1",null,"",null,true]
["CRB2",null,"",null,true]
["CRBN",null,"",null,true]
["CREB3L1",null,"",null,true]
["CREBBP",null,"",null,true]
["CRELD1",null,"",null,true]
["CRIPT",null,"",null,true]
["CRLF1",null,"",null,true]
["CRPPA",null,"",null,true]
["CRTAP",null,"",null,true]
["CRX",null,"",null,true]
["CRY1",null,"",null,true]
["CRYAA",null,"",null,true]
["CRYAB",null,"",null,true]
["CRYBA1",null,"",null,true]
["CRYBA2",null,"",null,true]
["CRYBA4",null,"",null,true]
["CRYBB1",null,"",null,true]
["CRYBB2",null,"",null,true]
["CRYBB3",null,"",null,true]
["CRYGB",null,"",null,true]
["CRYGC",null,"",null,true]
["CRYGD",null,"",null,true]
["CRYGS",null,"",null,true]
["CRYM",null,"",null,true]
["CSF1R",null,"",null,true]
["CSF2RA",null,"",null,true]
["CSF2RB",null,"",null,true]
["CSF3R",null,"",null,true]
["CSGALNACT1",null,"",null,true]
["CSNK1D",null,"",null,true]
["CSNK2A1",null,"",null,true]
["CSNK2B",null,"",null,true]
["CSPP1",null,"",null,true]
["CSRP3",null,"",null,true]
["CST3",null,"",null,true]
["CST6",null,"",null,true]
["CSTA",null,"",null,true]
["CSTB",null,"",null,true]
["CTBP1",null,"",null,true]
["CTC1",null,"",null,true]
["CTCF",null,"",null,true]
["CTDP1",null,"",null,true]
["CTH",null,"",null,true]
["CTHRC1",null,"",null,true]
["CTLA4",null,"",null,true]
["CTNNA1",null,"",null,true]
["CTNNA2",null,"",null,true]
["CTNNA3",null,"",null,true]
["CTNNB1",null,{"$f":"UPPER(B901)","v":""},null,{"$f":"ISERROR(INDEX($A$4:$A$4180, MATCH(C901, $A$4:$A$4180, 0)))","v":true}]
["CTNND1",null,"",null,true]
["CTNS",null,"",null,true]
["CTPS1",null,"",null,true]
["CTSA",null,"",null,true]
["CTSB",null,"",null,true]
["CTSC",null,"",null,true]
["CTSD",null,"",null,true]
["CTSF",null,"",null,true]
["CTSK",null,"",null,true]
["CTU2",null,"",null,true]
["CUBN",null,"",null,true]
["CUL3",null,"",null,true]
["CUL4B",null,"",null,true]
["CUL7",null,"",null,true]
["CUX1",null,"",null,true]
["CUX2",null,"",null,true]
["CWC27",null,"",null,true]
["CWF19L1",null,"",null,true]
["CXCR4",null,"",null,true]
["CYB5A",null,"",null,true]
["CYB5R3",null,"",null,true]
["CYBA",null,"",null,true]
["CYBB",null,"",null,true]
["CYBC1",null,"",null,true]
["CYC1",null,"",null,true]
["CYCS",null,"",null,true]
["CYFIP2",null,"",null,true]
["CYLD",null,"",null,true]
["CYP11A1",null,"",null,true]
["CYP11B1",null,"",null,true]
["CYP11B2",null,"",null,true]
["CYP17A1",null,"",null,true]
["CYP19A1",null,"",null,true]
["CYP1A2",null,"",null,true]
["CYP1B1",null,"",null,true]
["CYP21A2",null,"",null,true]
["CYP24A1",null,"",null,true]
["CYP26C1",null,"",null,true]
["CYP27A1",null,"",null,true]
["CYP27B1",null,"",null,true]
["CYP2A6",null,"",null,true]
["CYP2B6",null,"",null,true]
["CYP2C19",null,"",null,true]
["CYP2C8",null,"",null,true]
["CYP2C9",null,"",null,true]
["CYP2D6",null,"",null,true]
["CYP2R1",null,"",null,true]
["CYP2U1",null,"",null,true]
["CYP3A4",null,"",null,true]
["CYP3A5",null,"",null,true]
["CYP4F2",null,"",null,true]
["CYP4F22",null,"",null,true]
["CYP4V2",null,"",null,true]
["CYP7B1",null,"",null,true]
["D2HGDH",null,"",null,true]
["DAB1",null,"",null,true]
["DACT1",null,"",null,true]
["DAG1",null,"",null,true]
["DALRD3",null,"",null,true]
["DARS1",null,"",null,true]
["DARS2",null,"",null,true]
["DBH",null,"",null,true]
["DBT",null,"",null,true]
["DCAF17",null,{"$f":"UPPER(B965)","v":""},null,{"$f":"ISERROR(INDEX($A$4:$A$4180, MATCH(C965, $A$4:$A$4180, 0)))","v":true}]
["DCAF8",null,"",null,true]
["DCC",null,"",null,true]
["DCDC2",null,"",null,true]
["DCHS1",null,"",null,true]
["DCLRE1C",null,"",null,true]
["DCN",null,"",null,true]
["DCPS",null,"",null,true]
["DCT",null,"",null,true]
["DCTN1",null,"",null,true]
["DCX",null,"",null,true]
["DCXR",null,"",null,true]
["DDB2",null,"",null,true]
["DDC",null,"",null,true]
["DDHD1",null,"",null,true]
["DDHD2",null,"",null,true]
["DDOST",null,"",null,true]
["DDR2",null,"",null,true]
["DDRGK1",null,"",null,true]
["DDX11",null,"",null,true]
["DDX3X",null,"",null,true]
["DDX41",null,"",null,true]
["DDX58",null,"",null,true]
["DDX59",null,"",null,true]
["DDX6",null,"",null,true]
["DEAF1",null,"",null,true]
["DECR1",null,"",null,true]
["DEGS1",null,"",null,true]
["DENND5A",null,"",null,true]
["DEPDC5",null,"",null,true]
["DES",null,"",null,true]
["DGAT1",null,"",null,true]
["DGCR2",null,"",null,true]
["DGKE",null,"",null,true]
["DGUOK",null,"",null,true]
["DHCR24",null,"",null,true]
["DHCR7"]
["DHDDS"]
["DHFR"]
["DHH"]
["DHODH"]
["DHPS"]
["DHTKD1"]
["DHX16"]
["DHX30"]
["DHX37"]
["DHX38"]
["DIABLO"]
["DIAPH1"]
["DIAPH2"]
["DICER1"]
["DIP2B"]
["DIS3L2"]
["DKC1"]
["DLAT"]
["DLD"]
["DLG3"]
["DLG4"]
["DLL1"]
["DLL3"]
["DLL4"]
["DLST"]
["DLX3"]
["DLX4"]
["DLX5"]
["DMD"]
["DMGDH"]
["DMP1"]
["DMPK"]
["DMXL2"]
["DNA2"]
["DNAAF1"]
["DNAAF11"]
["DNAAF2"]
["DNAAF4"]
["DNAAF5"]
["DNAAF6"]
["DNAH1"]
["DNAH11"]
["DNAH17"]
["DNAH2"]
["DNAH5"]
["DNAH8"]
["DNAH9"]
["DNAI1"]
["DNAI2"]
["DNAJB11"]
["DNAJB13"]
["DNAJB2"]
["DNAJB6"]
["DNAJC12"]
["DNAJC13"]
["DNAJC19"]
["DNAJC21"]
["DNAJC3"]
["DNAJC5"]
["DNAJC6"]
["DNAL1"]
["DNAL4"]
["DNASE1L3"]
["DNM1"]
["DNM1L"]
["DNM2"]
["DNMBP"]
["DNMT1"]
["DNMT3A"]
["DNMT3B"]
["DOCK2"]
["DOCK3"]
["DOCK6"]
["DOCK7"]
["DOCK8"]
["DOK7"]
["DOLK"]
["DONSON"]
["DPAGT1"]
["DPF2"]
["DPH1"]
["DPM1"]
["DPM2"]
["DPM3"]
["DPP6"]
["DPY19L2"]
["DPYD"]
["DPYS"]
["DRAM2"]
["DRC1"]
["DRD2"]
["DSC2"]
["DSC3"]
["DSE"]
["DSG1"]
["DSG2"]
["DSG4"]
["DSP"]
["DSPP"]
["DST"]
["DSTYK"]
["DTNA"]
["DTNBP1"]
["DUOX2"]
["DUOXA2"]
["DUSP6"]
["DUX4"]
["DVL1"]
["DVL3"]
["DYM"]
["DYNC1H1"]
["DYNC2H1"]
["DYNC2I1"]
["DYNC2I2"]
["DYNC2LI1"]
["DYNLT2B"]
["DYRK1A"]
["DYRK1B"]
["DYSF"]
["DZIP1"]
["DZIP1L"]
["EARS2"]
["EBF3"]
["EBP"]
["ECE1"]
["ECEL1"]
["ECHS1"]
["ECM1"]
["EDA"]
["EDAR"]
["EDARADD"]
["EDC3"]
["EDN1"]
["EDN3"]
["EDNRA"]
["EDNRB"]
["EED"]
["EEF1A2"]
["EEF2"]
["EFEMP1"]
["EFEMP2"]
["EFHC1"]
["EFL1"]
["EFNB1"]
["EFTUD2"]
["EGF"]
["EGFR"]
["EGLN1"]
["EGR2"]
["EHHADH"]
["EHMT1"]
["EIF2AK1"]
["EIF2AK2"]
["EIF2AK3"]
["EIF2AK4"]
["EIF2B1"]
["EIF2B2"]
["EIF2B3"]
["EIF2B4"]
["EIF2B5"]
["EIF2S3"]
["EIF3F"]
["EIF4A3"]
["EIF4E"]
["EIF4G1"]
["ELAC2"]
["ELANE"]
["ELMO2"]
["ELMOD3"]
["ELN"]
["ELOVL1"]
["ELOVL4"]
["ELOVL5"]
["ELP1"]
["ELP2"]
["ELP4"]
["EMC1"]
["EMD"]
["EMG1"]
["EML1"]
["EMP2"]
["EMX2"]
["ENAM"]
["ENG"]
["ENO3"]
["ENPP1"]
["ENTPD1"]
["EOGT"]
["EP300"]
["EPAS1"]
["EPB41"]
["EPB41L1"]
["EPB42"]
["EPCAM"]
["EPG5"]
["EPHA2"]
["EPHB2"]
["EPHB4"]
["EPHX1"]
["EPM2A"]
["EPO"]
["EPOR"]
["EPRS1"]
["EPS8"]
["EPS8L2"]
["EPX"]
["ERAL1"]
["ERBB3"]
["ERBB4"]
["ERCC1"]
["ERCC2"]
["ERCC3"]
["ERCC4"]
["ERCC5"]
["ERCC6"]
["ERCC6L2"]
["ERCC8"]
["ERF"]
["ERGIC1"]
["ERLIN1"]
["ERLIN2"]
["ERMAP"]
["ERMARD"]
["ESAM"]
["ESCO2"]
["ESPN"]
["ESR1"]
["ESR2"]
["ESRP1"]
["ESRRB"]
["ETFA"]
["ETFB"]
["ETFDH"]
["ETHE1"]
["ETV6"]
["EVC"]
["EVC2"]
["EXOC6B"]
["EXOSC2"]
["EXOSC3"]
["EXOSC8"]
["EXOSC9"]
["EXPH5"]
["EXT1"]
["EXT2"]
["EXTL3"]
["EYA1"]
["EYA4"]
["EYS"]
["EZH2"]
["F10"]
["F11"]
["F12"]
["F13A1"]
["F13B"]
["F2"]
["F5"]
["F7"]
["F8"]
["F9"]
["FA2H"]
["FAAHP1"]
["FADD"]
["FAH"]
["FAM111A"]
["FAM111B"]
["FAM126A"]
["FAM149B1"]
["FAM161A"]
["FAM20A"]
["FAM20C"]
["FAM50A"]
["FAM83H"]
["FAN1"]
["FANCA"]
["FANCB"]
["FANCC"]
["FANCD2"]
["FANCE"]
["FANCF"]
["FANCG"]
["FANCI"]
["FANCL"]
["FANCM"]
["FAR1"]
["FARS2"]
["FARSA"]
["FARSB"]
["FAS"]
["FASLG"]
["FASTKD2"]
["FAT2"]
["FAT4"]
["FBLN1"]
["FBLN5"]
["FBN1"]
["FBN2"]
["FBP1"]
["FBXL3"]
["FBXL4"]
["FBXO11"]
["FBXO31"]
["FBXO38"]
["FBXO7"]
["FBXW11"]
["FCGR3A"]
["FCN3"]
["FCSK"]
["FDFT1"]
["FDPS"]
["FDX2"]
["FDXR"]
["FECH"]
["FERMT1"]
["FERMT3"]
["FEZF1"]
["FGA"]
["FGB"]
["FGD1"]
["FGD4"]
["FGF10"]
["FGF12"]
["FGF14"]
["FGF16"]
["FGF17"]
["FGF20"]
["FGF23"]
["FGF3"]
["FGF5"]
["FGF8"]
["FGF9"]
["FGFR1"]
["FGFR2"]
["FGFR3"]
["FGG"]
["FH"]
["FHL1"]
["FIBP"]
["FIG4"]
["FIGLA"]
["FITM2"]
["FKBP10"]
["FKBP14"]
["FKRP"]
["FKTN"]
["FLAD1"]
["FLCN"]
["FLG"]
["FLG2"]
["FLI1"]
["FLNA"]
["FLNB"]
["FLNC"]
["FLRT3"]
["FLT4"]
["FLVCR1"]
["FLVCR2"]
["FMN2"]
["FMO3"]
["FMR1"]
["FN1"]
["FOLR1"]
["FOXC1"]
["FOXC2"]
["FOXE1"]
["FOXE3"]
["FOXF1"]
["FOXG1"]
["FOXH1"]
["FOXI1"]
["FOXJ1"]
["FOXL2"]
["FOXN1"]
["FOXP1"]
["FOXP2"]
["FOXP3"]
["FOXRED1"]
["FRAS1"]
["FREM1"]
["FREM2"]
["FRMD4A"]
["FRMD7"]
["FRMPD4"]
["FRRS1L"]
["FSCN2"]
["FSHB"]
["FSHR"]
["FSIP2"]
["FTCD"]
["FTH1"]
["FTL"]
["FTO"]
["FTSJ1"]
["FUCA1"]
["FUS"]
["FUT1"]
["FUT2"]
["FUT3"]
["FUT6"]
["FUT8"]
["FUZ"]
["FXN"]
["FXR1"]
["FXYD2"]
["FYB1"]
["FYCO1"]
["FZD2"]
["FZD4"]
["FZD6"]
["G6PC1"]
["G6PC3"]
["G6PD"]
["GAA"]
["GAB1"]
["GABBR2"]
["GABRA1"]
["GABRA2"]
["GABRA5"]
["GABRB1"]
["GABRB2"]
["GABRB3"]
["GABRG2"]
["GAD1"]
["GAL"]
["GALC"]
["GALE"]
["GALK1"]
["GALM"]
["GALNS"]
["GALNT12"]
["GALNT2"]
["GALNT3"]
["GALT"]
["GAMT"]
["GAN"]
["GANAB"]
["GARS1"]
["GAS1"]
["GAS8"]
["GATA1"]
["GATA2"]
["GATA3"]
["GATA4"]
["GATA5"]
["GATA6"]
["GATAD1"]
["GATAD2B"]
["GATB"]
["GATC"]
["GATM"]
["GBA"]
["GBA2"]
["GBE1"]
["GCDH"]
["GCH1"]
["GCK"]
["GCLC"]
["GCM2"]
["GCNT2"]
["GCSH"]
["GDAP1"]
["GDAP2"]
["GDF1"]
["GDF11"]
["GDF2"]
["GDF3"]
["GDF5"]
["GDF6"]
["GDF9"]
["GDI1"]
["GDNF"]
["GEMIN4"]
["GFAP"]
["GFER"]
["GFI1"]
["GFI1B"]
["GFM1"]
["GFM2"]
["GFPT1"]
["GGCX"]
["GGT1"]
["GH1"]
["GHR"]
["GHRHR"]
["GHSR"]
["GIGYF2"]
["GINS1"]
["GIPC1"]
["GIPC3"]
["GJA1"]
["GJA3"]
["GJA5"]
["GJA8"]
["GJB1"]
["GJB2"]
["GJB3"]
["GJB4"]
["GJB6"]
["GJC2"]
["GK"]
["GLA"]
["GLB1"]
["GLDC"]
["GLDN"]
["GLE1"]
["GLI1"]
["GLI2"]
["GLI3"]
["GLIS2"]
["GLIS3"]
["GLMN"]
["GLRA1"]
["GLRB"]
["GLRX5"]
["GLS"]
["GLUD1"]
["GLUL"]
["GLYCTK"]
["GM2A"]
["GMNN"]
["GMPPA"]
["GMPPB"]
["GNA11"]
["GNAI3"]
["GNAL"]
["GNAO1"]
["GNAS"]
["GNAT1"]
["GNAT2"]
["GNB1"]
["GNB3"]
["GNB4"]
["GNB5"]
["GNE"]
["GNMT"]
["GNPAT"]
["GNPTAB"]
["GNPTG"]
["GNRH1"]
["GNRHR"]
["GNS"]
["GORAB"]
["GOSR2"]
["GOT2"]
["GP1BA"]
["GP1BB"]
["GP6"]
["GP9"]
["GPAA1"]
["GPC3"]
["GPC4"]
["GPC6"]
["GPD1"]
["GPD1L"]
["GPHN"]
["GPI"]
["GPIHBP1"]
["GPNMB"]
["GPR101"]
["GPR143"]
["GPR179"]
["GPR68"]
["GPR88"]
["GPRASP2"]
["GPSM2"]
["GPT2"]
["GPX4"]
["GRAP"]
["GREB1L"]
["GREM1"]
["GREM2"]
["GRHL2"]
["GRHL3"]
["GRHPR"]
["GRIA2"]
["GRIA3"]
["GRIA4"]
["GRID2"]
["GRIK2"]
["GRIK4"]
["GRIN1"]
["GRIN2A"]
["GRIN2B"]
["GRIN2D"]
["GRIP1"]
["GRK1"]
["GRM1"]
["GRM6"]
["GRM7"]
["GRN"]
["GRXCR1"]
["GRXCR2"]
["GSC"]
["GSDME"]
["GSN"]
["GSR"]
["GSS"]
["GSTZ1"]
["GTF2E2"]
["GTF2H5"]
["GTPBP2"]
["GTPBP3"]
["GUCA1A"]
["GUCA1B"]
["GUCY1A1"]
["GUCY2C"]
["GUCY2D"]
["GUF1"]
["GUSB"]
["GYG1"]
["GYPA"]
["GYPB"]
["GYPC"]
["GYS1"]
["GYS2"]
["GZF1"]
["H1-4"]
["H19"]
["H6PD"]
["HAAO"]
["HABP2"]
["HACE1"]
["HADH"]
["HADHA"]
["HADHB"]
["HAL"]
["HAMP"]
["HARS1"]
["HARS2"]
["HAVCR2"]
["HAX1"]
["HBA1"]
["HBA2"]
["HBB"]
["HBG1"]
["HBG2"]
["HCCS"]
["HCFC1"]
["HCN1"]
["HCN4"]
["HCRT"]
["HDAC4"]
["HDAC6"]
["HDAC8"]
["HDC"]
["HECW2"]
["HELLS"]
["HEPACAM"]
["HEPHL1"]
["HERC1"]
["HERC2"]
["HES7"]
["HESX1"]
["HEXA"]
["HEXB"]
["HFE"]
["HFM1"]
["HGD"]
["HGF"]
["HGSNAT"]
["HHAT"]
["HIBCH"]
["HIKESHI"]
["HINT1"]
["HIVEP2"]
["HJV"]
["HK1"]
["HLA-A"]
["HLA-B"]
["HLCS"]
["HMBS"]
["HMCN1"]
["HMGA2"]
["HMGB3"]
["HMGCL"]
["HMGCR"]
["HMGCS2"]
["HMOX1"]
["HMX1"]
["HNF1A"]
["HNF1B"]
["HNF4A"]
["HNMT"]
["HNRNPA1"]
["HNRNPA2B1"]
["HNRNPDL"]
["HNRNPH2"]
["HNRNPK"]
["HNRNPU"]
["HOGA1"]
["HOMER2"]
["HOXA1"]
["HOXA11"]
["HOXA13"]
["HOXA2"]
["HOXB1"]
["HOXC13"]
["HOXD10"]
["HOXD13"]
["HP"]
["HPCA"]
["HPD"]
["HPDL"]
["HPGD"]
["HPRT1"]
["HPS1"]
["HPS3"]
["HPS4"]
["HPS5"]
["HPS6"]
["HPSE2"]
["HR"]
["HRAS"]
["HRG"]
["HS6ST1"]
["HS6ST2"]
["HSD11B1"]
["HSD11B2"]
["HSD17B10"]
["HSD17B3"]
["HSD17B4"]
["HSD3B2"]
["HSD3B7"]
["HSF4"]
["HSPA1L"]
["HSPA9"]
["HSPB1"]
["HSPB3"]
["HSPB8"]
["HSPD1"]
["HSPG2"]
["HTR1A"]
["HTR2A"]
["HTRA1"]
["HTRA2"]
["HTT"]
["HUWE1"]
["HYAL1"]
["HYDIN"]
["HYLS1"]
["HYOU1"]
["IARS1"]
["IARS2"]
["IBA57"]
["ICAM4"]
["ICOS"]
["IDH2"]
["IDH3A"]
["IDH3B"]
["IDS"]
["IDUA"]
["IER3IP1"]
["IFIH1"]
["IFITM5"]
["IFNAR2"]
["IFNG"]
["IFNGR1"]
["IFNGR2"]
["IFNL3"]
["IFT122"]
["IFT140"]
["IFT172"]
["IFT27"]
["IFT43"]
["IFT52"]
["IFT57"]
["IFT74"]
["IFT80"]
["IFT81"]
["IFT88"]
["IGBP1"]
["IGF1"]
["IGF1R"]
["IGF2"]
["IGFALS"]
["IGFBP7"]
["IGHM"]
["IGHMBP2"]
["IGKC"]
["IGLL1"]
["IGSF1"]
["IGSF3"]
["IHH"]
["IKBKB"]
["IKBKG"]
["IKZF1"]
["IL10"]
["IL10RA"]
["IL10RB"]
["IL11RA"]
["IL12B"]
["IL12RB1"]
["IL17F"]
["IL17RA"]
["IL17RC"]
["IL17RD"]
["IL18BP"]
["IL1RAPL1"]
["IL1RN"]
["IL21"]
["IL21R"]
["IL2RA"]
["IL2RB"]
["IL2RG"]
["IL31RA"]
["IL36RN"]
["IL6R"]
["IL6ST"]
["IL7"]
["IL7R"]
["ILDR1"]
["IMPA1"]
["IMPDH1"]
["IMPDH2"]
["IMPG1"]
["IMPG2"]
["INF2"]
["INPP5E"]
["INPP5K"]
["INPPL1"]
["INS"]
["INSL3"]
["INSR"]
["INTS1"]
["INTU"]
["INVS"]
["IPMK"]
["IQCB1"]
["IQCE"]
["IQSEC1"]
["IQSEC2"]
["IRAK4"]
["IREB2"]
["IRF2BP2"]
["IRF2BPL"]
["IRF3"]
["IRF4"]
["IRF6"]
["IRF7"]
["IRF8"]
["IRF9"]
["IRS4"]
["ISCA1"]
["ISCA2"]
["ISCU"]
["ISG15"]
["ITCH"]
["ITGA2B"]
["ITGA3"]
["ITGA6"]
["ITGA7"]
["ITGA8"]
["ITGB2"]
["ITGB3"]
["ITGB4"]
["ITGB6"]
["ITK"]
["ITM2B"]
["ITPA"]
["ITPR1"]
["ITPR2"]
["IVD"]
["IVNS1ABP"]
["IYD"]
["JAG1"]
["JAGN1"]
["JAK1"]
["JAK2"]
["JAK3"]
["JAM2"]
["JAM3"]
["JPH2"]
["JPH3"]
["JUP"]
["KANK1"]
["KANK2"]
["KANSL1"]
["KARS1"]
["KAT5"]
["KAT6A"]
["KAT6B"]
["KAT8"]
["KATNB1"]
["KATNIP"]
["KBTBD13"]
["KCNA1"]
["KCNA2"]
["KCNA4"]
["KCNA5"]
["KCNB1"]
["KCNC1"]
["KCNC3"]
["KCND3"]
["KCNE1"]
["KCNE2"]
["KCNE3"]
["KCNH1"]
["KCNH2"]
["KCNJ1"]
["KCNJ10"]
["KCNJ11"]
["KCNJ13"]
["KCNJ18"]
["KCNJ2"]
["KCNJ3"]
["KCNJ5"]
["KCNJ6"]
["KCNK18"]
["KCNK3"]
["KCNK4"]
["KCNK9"]
["KCNMA1"]
["KCNN3"]
["KCNN4"]
["KCNQ1"]
["KCNQ1OT1"]
["KCNQ2"]
["KCNQ3"]
["KCNQ4"]
["KCNQ5"]
["KCNT1"]
["KCNT2"]
["KCNV2"]
["KCTD17"]
["KCTD7"]
["KDELR2"]
["KDF1"]
["KDM1A"]
["KDM3B"]
["KDM5B"]
["KDM5C"]
["KDM6A"]
["KDM6B"]
["KDSR"]
["KEL"]
["KERA"]
["KHDC3L"]
["KHK"]
["KIAA0586"]
["KIAA0753"]
["KIAA0825"]
["KIAA1549"]
["KIDINS220"]
["KIF11"]
["KIF14"]
["KIF1A"]
["KIF1B"]
["KIF1C"]
["KIF21A"]
["KIF22"]
["KIF2A"]
["KIF3B"]
["KIF4A"]
["KIF5A"]
["KIF5C"]
["KIF7"]
["KIFBP"]
["KIRREL3"]
["KISS1"]
["KISS1R"]
["KIT"]
["KITLG"]
["KIZ"]
["KL"]
["KLC2"]
["KLF1"]
["KLF11"]
["KLHDC8B"]
["KLHL10"]
["KLHL15"]
["KLHL24"]
["KLHL3"]
["KLHL40"]
["KLHL41"]
["KLHL7"]
["KLK4"]
["KLKB1"]
["KLLN"]
["KMT2A"]
["KMT2B"]
["KMT2C"]
["KMT2D"]
["KMT2E"]
["KMT5B"]
["KNG1"]
["KNL1"]
["KPTN"]
["KRAS"]
["KREMEN1"]
["KRIT1"]
["KRT1"]
["KRT10"]
["KRT12"]
["KRT13"]
["KRT14"]
["KRT16"]
["KRT17"]
["KRT2"]
["KRT25"]
["KRT3"]
["KRT4"]
["KRT5"]
["KRT6A"]
["KRT6B"]
["KRT6C"]
["KRT71"]
["KRT74"]
["KRT75"]
["KRT81"]
["KRT83"]
["KRT85"]
["KRT86"]
["KRT9"]
["KY"]
["KYNU"]
["L1CAM"]
["L2HGDH"]
["LACC1"]
["LAGE3"]
["LAMA1"]
["LAMA2"]
["LAMA3"]
["LAMA4"]
["LAMB1"]
["LAMB2"]
["LAMB3"]
["LAMC2"]
["LAMC3"]
["LAMP2"]
["LAMTOR2"]
["LARGE1"]
["LARP7"]
["LARS1"]
["LARS2"]
["LAS1L"]
["LAT"]
["LBR"]
["LCA5"]
["LCAT"]
["LCK"]
["LCT"]
["LDB3"]
["LDHA"]
["LDHB"]
["LDHD"]
["LDLR"]
["LDLRAP1"]
["LEFTY2"]
["LEMD2"]
["LEMD3"]
["LEP"]
["LEPR"]
["LFNG"]
["LGI1"]
["LGI4"]
["LHB"]
["LHCGR"]
["LHFPL5"]
["LHX3"]
["LHX4"]
["LIAS"]
["LIFR"]
["LIG4"]
["LIM2"]
["LIMA1"]
["LIMS2"]
["LINGO1"]
["LINS1"]
["LIPA"]
["LIPC"]
["LIPE"]
["LIPH"]
["LIPI"]
["LIPN"]
["LIPT1"]
["LIPT2"]
["LITAF"]
["LMAN1"]
["LMAN2L"]
["LMBR1"]
["LMBRD1"]
["LMF1"]
["LMNA"]
["LMNB1"]
["LMNB2"]
["LMOD3"]
["LMX1A"]
["LMX1B"]
["LNPK"]
["LONP1"]
["LORICRIN"]
["LOX"]
["LOXHD1"]
["LPA"]
["LPAR6"]
["LPIN1"]
["LPIN2"]
["LPL"]
["LRAT"]
["LRBA"]
["LRIG2"]
["LRIT3"]
["LRMDA"]
["LRP1"]
["LRP12"]
["LRP2"]
["LRP4"]
["LRP5"]
["LRP6"]
["LRPAP1"]
["LRPPRC"]
["LRRC32"]
["LRRC56"]
["LRRC8A"]
["LRRK2"]
["LRSAM1"]
["LRTOMT"]
["LSS"]
["LTBP2"]
["LTBP3"]
["LTBP4"]
["LTC4S"]
["LYRM4"]
["LYRM7"]
["LYST"]
["LYZ"]
["LZTFL1"]
["LZTR1"]
["M1AP"]
["MAB21L1"]
["MAB21L2"]
["MACF1"]
["MAD2L2"]
["MADD"]
["MAF"]
["MAFA"]
["MAFB"]
["MAG"]
["MAGED2"]
["MAGEL2"]
["MAGI2"]
["MAGT1"]
["MAK"]
["MALT1"]
["MAMLD1"]
["MAN1B1"]
["MAN2B1"]
["MANBA"]
["MAOA"]
["MAP1B"]
["MAP2K1"]
["MAP2K2"]
["MAP3K1"]
["MAP3K14"]
["MAP3K20"]
["MAP3K6"]
["MAP3K7"]
["MAPK1"]
["MAPK10"]
["MAPK8IP1"]
["MAPK8IP3"]
["MAPKAPK3"]
["MAPKBP1"]
["MAPRE2"]
["MAPT"]
["MARCHF6"]
["MARK3"]
["MARS1"]
["MARS2"]
["MARVELD2"]
["MASP1"]
["MASP2"]
["MAST1"]
["MASTL"]
["MAT1A"]
["MATN3"]
["MATR3"]
["MAX"]
["MBD5"]
["MBL2"]
["MBOAT7"]
["MBTPS1"]
["MBTPS2"]
["MC1R"]
["MC2R"]
["MC3R"]
["MC4R"]
["MCCC1"]
["MCCC2"]
["MCEE"]
["MCFD2"]
["MCIDAS"]
["MCM2"]
["MCM3AP"]
["MCM4"]
["MCM5"]
["MCM6"]
["MCM8"]
["MCM9"]
["MCOLN1"]
["MCPH1"]
["MDH1"]
["MDH2"]
["MDM2"]
["MDM4"]
["MECOM"]
["MECP2"]
["MECR"]
["MED12"]
["MED12L"]
["MED13"]
["MED13L"]
["MED17"]
["MED23"]
["MED25"]
["MEF2C"]
["MEFV"]
["MEGF10"]
["MEGF8"]
["MEI1"]
["MEIOB"]
["MEIS2"]
["MEN1"]
["MEOX1"]
["MERTK"]
["MESD"]
["MESP2"]
["MET"]
["METTL13"]
["METTL23"]
["METTL5"]
["MFAP5"]
["MFF"]
["MFN2"]
["MFRP"]
["MFSD2A"]
["MFSD8"]
["MGAT2"]
["MGME1"]
["MGP"]
["MIB1"]
["MICOS13"]
["MICU1"]
["MID1"]
["MID2"]
["MIEF2"]
["MIP"]
["MIPEP"]
["MIR140"]
["MIR17HG"]
["MIR184"]
["MIR204"]
["MIR96"]
["MITF"]
["MKKS"]
["MKRN3"]
["MKS1"]
["MLC1"]
["MLH1"]
["MLH3"]
["MLPH"]
["MLYCD"]
["MMAA"]
["MMAB"]
["MMACHC"]
["MMADHC"]
["MME"]
["MMP13"]
["MMP14"]
["MMP19"]
["MMP2"]
["MMP20"]
["MMP21"]
["MMP9"]
["MMUT"]
["MN1"]
["MNS1"]
["MNX1"]
["MOCOS"]
["MOCS1"]
["MOCS2"]
["MOG"]
["MOGS"]
["MORC2"]
["MPC1"]
["MPDU1"]
["MPDZ"]
["MPI"]
["MPIG6B"]
["MPL"]
["MPLKIP"]
["MPO"]
["MPV17"]
["MPZ"]
["MPZL2"]
["MR1"]
["MRAP"]
["MRAP2"]
["MRAS"]
["MRE11"]
["MRM2"]
["MRPL12"]
["MRPL3"]
["MRPL44"]
["MRPS14"]
["MRPS16"]
["MRPS2"]
["MRPS22"]
["MRPS23"]
["MRPS25"]
["MRPS28"]
["MRPS34"]
["MRPS7"]
["MRTFA"]
["MS4A1"]
["MSH2"]
["MSH3"]
["MSH5"]
["MSH6"]
["MSL3"]
["MSMO1"]
["MSN"]
["MSR1"]
["MSRB3"]
["MSTN"]
["MSTO1"]
["MSX1"]
["MSX2"]
["MTAP"]
["MTFMT"]
["MTHFD1"]
["MTHFR"]
["MTHFS"]
["MTM1"]
["MTMR2"]
["MTO1"]
["MTOR"]
["MTPAP"]
["MTR"]
["MTRFR"]
["MTRR"]
["MTTP"]
["MTX2"]
["MUC1"]
["MUSK"]
["MUTYH"]
["MVD"]
["MVK"]
["MYBPC1"]
["MYBPC3"]
["MYCN"]
["MYD88"]
["MYF5"]
["MYF6"]
["MYH11"]
["MYH14"]
["MYH2"]
["MYH3"]
["MYH6"]
["MYH7"]
["MYH8"]
["MYH9"]
["MYL1"]
["MYL2"]
["MYL3"]
["MYL4"]
["MYLK"]
["MYLK2"]
["MYLPF"]
["MYMK"]
["MYO15A"]
["MYO18B"]
["MYO1A"]
["MYO1E"]
["MYO3A"]
["MYO5A"]
["MYO5B"]
["MYO6"]
["MYO7A"]
["MYO9A"]
["MYOC"]
["MYOCD"]
["MYOD1"]
["MYORG"]
["MYOT"]
["MYOZ2"]
["MYPN"]
["MYRF"]
["MYT1L"]
["NAA10"]
["NAA15"]
["NACC1"]
["NADK2"]
["NADSYN1"]
["NAGA"]
["NAGLU"]
["NAGS"]
["NALCN"]
["NANOS1"]
["NANS"]
["NARS1"]
["NARS2"]
["NAT1"]
["NAT2"]
["NAT8L"]
["NAXD"]
["NAXE"]
["NBAS"]
["NBEA"]
["NBEAL2"]
["NBN"]
["NCAPD2"]
["NCAPD3"]
["NCAPG2"]
["NCAPH"]
["NCF1"]
["NCF2"]
["NCF4"]
["NCKAP1L"]
["NCSTN"]
["NDE1"]
["NDNF"]
["NDP"]
["NDRG1"]
["NDST1"]
["NDUFA1"]
["NDUFA10"]
["NDUFA11"]
["NDUFA12"]
["NDUFA13"]
["NDUFA2"]
["NDUFA4"]
["NDUFA6"]
["NDUFA9"]
["NDUFAF1"]
["NDUFAF2"]
["NDUFAF3"]
["NDUFAF4"]
["NDUFAF5"]
["NDUFAF6"]
["NDUFAF8"]
["NDUFB10"]
["NDUFB11"]
["NDUFB3"]
["NDUFB8"]
["NDUFB9"]
["NDUFC2"]
["NDUFS1"]
["NDUFS2"]
["NDUFS3"]
["NDUFS4"]
["NDUFS6"]
["NDUFS7"]
["NDUFS8"]
["NDUFV1"]
["NDUFV2"]
["NEB"]
["NECAP1"]
["NECTIN1"]
["NECTIN4"]
["NEDD4L"]
["NEFH"]
["NEFL"]
["NEK1"]
["NEK10"]
["NEK2"]
["NEK8"]
["NEK9"]
["NEMF"]
["NEPRO"]
["NEU1"]
["NEUROD1"]
["NEUROD2"]
["NEUROG3"]
["NEXMIF"]
["NEXN"]
["NF1"]
["NF2"]
["NFASC"]
["NFE2L2"]
["NFIA"]
["NFIB"]
["NFIX"]
["NFKB1"]
["NFKB2"]
["NFKBIA"]
["NFU1"]
["NGF"]
["NGLY1"]
["NHEJ1"]
["NHLRC1"]
["NHLRC2"]
["NHP2"]
["NHS"]
["NIN"]
["NIPA1"]
["NIPAL4"]
["NIPBL"]
["NKAP"]
["NKX2-1"]
["NKX2-5"]
["NKX2-6"]
["NKX3-2"]
["NKX6-2"]
["NLGN1"]
["NLGN3"]
["NLGN4X"]
["NLRC4"]
["NLRP1"]
["NLRP12"]
["NLRP3"]
["NLRP7"]
["NME8"]
["NNT"]
["NOBOX"]
["NOD2"]
["NODAL"]
["NOG"]
["NOL3"]
["NONO"]
["NOP10"]
["NOP56"]
["NOS1AP"]
["NOTCH1"]
["NOTCH2"]
["NOTCH2NLC"]
["NOTCH3"]
["NOVA2"]
["NPAT"]
["NPC1"]
["NPC1L1"]
["NPC2"]
["NPHP1"]
["NPHP3"]
["NPHP4"]
["NPHS1"]
["NPHS2"]
["NPPA"]
["NPR2"]
["NPRL2"]
["NPRL3"]
["NR0B1"]
["NR1H4"]
["NR2E3"]
["NR2F1"]
["NR2F2"]
["NR3C1"]
["NR3C2"]
["NR5A1"]
["NRAS"]
["NRIP1"]
["NRL"]
["NRROS"]
["NRXN1"]
["NSD1"]
["NSDHL"]
["NSMCE2"]
["NSMCE3"]
["NSMF"]
["NSUN3"]
["NT5C2"]
["NT5C3A"]
["NT5E"]
["NTF4"]
["NTHL1"]
["NTN1"]
["NTNG2"]
["NTRK1"]
["NTRK2"]
["NUBPL"]
["NUDT15"]
["NUP107"]
["NUP133"]
["NUP155"]
["NUP160"]
["NUP188"]
["NUP205"]
["NUP214"]
["NUP37"]
["NUP62"]
["NUP85"]
["NUP88"]
["NUS1"]
["NUTM2B-AS1"]
["NXF5"]
["NXN"]
["NYX"]
["OAT"]
["OBSL1"]
["OCA2"]
["OCLN"]
["OCRL"]
["ODAD1"]
["ODAD2"]
["ODAD3"]
["ODAD4"]
["ODAPH"]
["ODC1"]
["OFD1"]
["OGT"]
["OPA1"]
["OPA3"]
["OPHN1"]
["OPLAH"]
["OPN1LW"]
["OPN1MW"]
["OPN1SW"]
["OPTN"]
["ORAI1"]
["ORC1"]
["ORC4"]
["ORC6"]
["OSBPL2"]
["OSGEP"]
["OSMR"]
["OSTM1"]
["OTC"]
["OTOA"]
["OTOF"]
["OTOG"]
["OTOGL"]
["OTUD6B"]
["OTULIN"]
["OTX2"]
["OVOL2"]
["OXCT1"]
["OXR1"]
["P2RX2"]
["P2RY12"]
["P3H1"]
["P3H2"]
["P4HA2"]
["P4HB"]
["P4HTM"]
["PABPN1"]
["PACS1"]
["PACS2"]
["PADI3"]
["PADI6"]
["PAFAH1B1"]
["PAH"]
["PAK1"]
["PAK3"]
["PALB2"]
["PALLD"]
["PAM16"]
["PANK2"]
["PANX1"]
["PAPSS2"]
["PARK7"]
["PARN"]
["PARS2"]
["PATL2"]
["PAX1"]
["PAX2"]
["PAX3"]
["PAX4"]
["PAX5"]
["PAX6"]
["PAX7"]
["PAX8"]
["PAX9"]
["PBRM1"]
["PBX1"]
["PC"]
["PCARE"]
["PCBD1"]
["PCCA"]
["PCCB"]
["PCDH12"]
["PCDH15"]
["PCDH19"]
["PCGF2"]
["PCK1"]
["PCLO"]
["PCNA"]
["PCNT"]
["PCSK1"]
["PCSK9"]
["PCYT1A"]
["PCYT2"]
["PDCD10"]
["PDE10A"]
["PDE11A"]
["PDE1C"]
["PDE2A"]
["PDE3A"]
["PDE4D"]
["PDE6A"]
["PDE6B"]
["PDE6C"]
["PDE6D"]
["PDE6G"]
["PDE6H"]
["PDE8B"]
["PDGFB"]
["PDGFRA"]
["PDGFRB"]
["PDHA1"]
["PDHB"]
["PDHX"]
["PDK3"]
["PDP1"]
["PDSS1"]
["PDSS2"]
["PDX1"]
["PDXK"]
["PDYN"]
["PDZD7"]
["PEPD"]
["PER2"]
["PER3"]
["PERCC1"]
["PET100"]
["PET117"]
["PEX1"]
["PEX10"]
["PEX11B"]
["PEX12"]
["PEX13"]
["PEX14"]
["PEX16"]
["PEX19"]
["PEX2"]
["PEX26"]
["PEX3"]
["PEX5"]
["PEX6"]
["PEX7"]
["PFKM"]
["PFN1"]
["PGAM2"]
["PGAP1"]
["PGAP2"]
["PGAP3"]
["PGK1"]
["PGM1"]
["PGM3"]
["PHACTR1"]
["PHC1"]
["PHEX"]
["PHF21A"]
["PHF6"]
["PHF8"]
["PHGDH"]
["PHIP"]
["PHKA1"]
["PHKA2"]
["PHKB"]
["PHKG2"]
["PHOX2A"]
["PHOX2B"]
["PHYH"]
["PHYKPL"]
["PI4KA"]
["PIBF1"]
["PIEZO1"]
["PIEZO2"]
["PIGA"]
["PIGB"]
["PIGC"]
["PIGG"]
["PIGH"]
["PIGK"]
["PIGL"]
["PIGM"]
["PIGN"]
["PIGO"]
["PIGP"]
["PIGQ"]
["PIGT"]
["PIGU"]
["PIGV"]
["PIGW"]
["PIGY"]
["PIK3C2A"]
["PIK3CA"]
["PIK3CD"]
["PIK3R1"]
["PIK3R2"]
["PIK3R5"]
["PIKFYVE"]
["PINK1"]
["PIP5K1C"]
["PITPNM3"]
["PITX1"]
["PITX2"]
["PITX3"]
["PJVK"]
["PKD1"]
["PKD1L1"]
["PKD2"]
["PKDCC"]
["PKHD1"]
["PKLR"]
["PKP1"]
["PKP2"]
["PLA2G4A"]
["PLA2G5"]
["PLA2G6"]
["PLA2G7"]
["PLAA"]
["PLAG1"]
["PLAGL1"]
["PLAU"]
["PLCB1"]
["PLCB3"]
["PLCB4"]
["PLCD1"]
["PLCE1"]
["PLCG2"]
["PLCZ1"]
["PLD1"]
["PLD3"]
["PLEC"]
["PLEKHG2"]
["PLEKHG5"]
["PLEKHM1"]
["PLG"]
["PLIN1"]
["PLK4"]
["PLN"]
["PLOD1"]
["PLOD2"]
["PLOD3"]
["PLP1"]
["PLPBP"]
["PLS1"]
["PLS3"]
["PLVAP"]
["PMFBP1"]
["PMM2"]
["PMP2"]
["PMP22"]
["PMPCA"]
["PMPCB"]
["PMS2"]
["PMVK"]
["PNKP"]
["PNLIP"]
["PNP"]
["PNPLA1"]
["PNPLA2"]
["PNPLA6"]
["PNPLA8"]
["PNPO"]
["PNPT1"]
["POC1A"]
["POC1B"]
["POF1B"]
["POFUT1"]
["POGLUT1"]
["POGZ"]
["POLA1"]
["POLD1"]
["POLE"]
["POLG"]
["POLG2"]
["POLH"]
["POLR1A"]
["POLR1B"]
["POLR1C"]
["POLR1D"]
["POLR3A"]
["POLR3B"]
["POMC"]
["POMGNT1"]
["POMGNT2"]
["POMK"]
["POMP"]
["POMT1"]
["POMT2"]
["PON1"]
["POP1"]
["POPDC3"]
["POR"]
["PORCN"]
["POT1"]
["POU1F1"]
["POU3F3"]
["POU3F4"]
["POU4F3"]
["POU6F2"]
["PPA2"]
["PPARG"]
["PPCS"]
["PPIB"]
["PPIP5K2"]
["PPM1D"]
["PPM1K"]
["PPOX"]
["PPP1CB"]
["PPP1R12A"]
["PPP1R15B"]
["PPP1R3A"]
["PPP2CA"]
["PPP2R1A"]
["PPP2R2B"]
["PPP2R3C"]
["PPP2R5D"]
["PPP3CA"]
["PPT1"]
["PQBP1"]
["PRCD"]
["PRDM12"]
["PRDM13"]
["PRDM16"]
["PRDM5"]
["PRDM6"]
["PRDM8"]
["PRDX1"]
["PREPL"]
["PRF1"]
["PRG4"]
["PRICKLE1"]
["PRICKLE2"]
["PRIMPOL"]
["PRKACA"]
["PRKACB"]
["PRKACG"]
["PRKAG2"]
["PRKAG3"]
["PRKAR1A"]
["PRKCD"]
["PRKCG"]
["PRKCSH"]
["PRKD1"]
["PRKDC"]
["PRKG1"]
["PRKN"]
["PRKRA"]
["PRLR"]
["PRMT7"]
["PRNP"]
["PROC"]
["PRODH"]
["PROK2"]
["PROKR2"]
["PROM1"]
["PROP1"]
["PROS1"]
["PROZ"]
["PRPF3"]
["PRPF31"]
["PRPF4"]
["PRPF6"]
["PRPF8"]
["PRPH2"]
["PRPS1"]
["PRRT2"]
["PRRX1"]
["PRSS1"]
["PRSS12"]
["PRSS56"]
["PRUNE1"]
["PRX"]
["PSAP"]
["PSAT1"]
["PSEN1"]
["PSEN2"]
["PSENEN"]
["PSMA3"]
["PSMB4"]
["PSMB8"]
["PSMB9"]
["PSMC3IP"]
["PSMD12"]
["PSPH"]
["PSTPIP1"]
["PTCD3"]
["PTCH1"]
["PTCH2"]
["PTCHD1"]
["PTDSS1"]
["PTEN"]
["PTF1A"]
["PTH"]
["PTH1R"]
["PTHLH"]
["PTPN11"]
["PTPN14"]
["PTPN23"]
["PTPRC"]
["PTPRF"]
["PTPRO"]
["PTPRQ"]
["PTRH2"]
["PTS"]
["PUF60"]
["PUM1"]
["PURA"]
["PUS1"]
["PUS3"]
["PUS7"]
["PXDN"]
["PYCR1"]
["PYCR2"]
["PYGL"]
["PYGM"]
["PYROXD1"]
["QARS1"]
["QDPR"]
["QRICH1"]
["QRICH2"]
["QRSL1"]
["RAB11B"]
["RAB18"]
["RAB23"]
["RAB27A"]
["RAB28"]
["RAB33B"]
["RAB39B"]
["RAB3GAP1"]
["RAB3GAP2"]
["RAB7A"]
["RABL3"]
["RAC1"]
["RAC2"]
["RAC3"]
["RAD21"]
["RAD50"]
["RAD51"]
["RAD51C"]
["RAD51D"]
["RAF1"]
["RAG1"]
["RAG2"]
["RAI1"]
["RALGAPA1"]
["RANBP2"]
["RAPGEF2"]
["RAPSN"]
["RARB"]
["RARS1"]
["RARS2"]
["RASA1"]
["RASGRP1"]
["RASGRP2"]
["RAX"]
["RAX2"]
["RB1"]
["RB1CC1"]
["RBBP8"]
["RBCK1"]
["RBM10"]
["RBM12"]
["RBM20"]
["RBM28"]
["RBMX"]
["RBP3"]
["RBP4"]
["RBPJ"]
["RC3H1"]
["RCBTB1"]
["RD3"]
["RDH11"]
["RDH12"]
["RDH5"]
["RDX"]
["RECQL4"]
["REEP1"]
["REEP2"]
["REEP6"]
["RELA"]
["RELB"]
["RELN"]
["RELT"]
["REN"]
["REPS1"]
["RERE"]
["REST"]
["RET"]
["RETREG1"]
["RFC1"]
["RFT1"]
["RFWD3"]
["RFX5"]
["RFX6"]
["RFXANK"]
["RFXAP"]
["RGR"]
["RGS9"]
["RGS9BP"]
["RHAG"]
["RHBDF2"]
["RHCE"]
["RHO"]
["RHOA"]
["RHOBTB2"]
["RHOH"]
["RIC1"]
["RIMS1"]
["RIMS2"]
["RIN2"]
["RINT1"]
["RIPK1"]
["RIPK4"]
["RIPOR2"]
["RIPPLY2"]
["RIT1"]
["RLBP1"]
["RLIM"]
["RMND1"]
["RMRP"]
["RNASEH1"]
["RNASEH2A"]
["RNASEH2B"]
["RNASEH2C"]
["RNASEL"]
["RNASET2"]
["RNF113A"]
["RNF125"]
["RNF13"]
["RNF135"]
["RNF139"]
["RNF168"]
["RNF170"]
["RNF213"]
["RNF216"]
["RNF43"]
["RNPC3"]
["RNU4ATAC"]
["ROBO2"]
["ROBO3"]
["ROBO4"]
["ROGDI"]
["ROM1"]
["ROR1"]
["ROR2"]
["RORA"]
["RORB"]
["RORC"]
["RP1"]
["RP1L1"]
["RP2"]
["RP9"]
["RPE65"]
["RPGR"]
["RPGRIP1"]
["RPGRIP1L"]
["RPIA"]
["RPL10"]
["RPL11"]
["RPL13"]
["RPL15"]
["RPL18"]
["RPL21"]
["RPL26"]
["RPL27"]
["RPL35"]
["RPL35A"]
["RPL5"]
["RPS10"]
["RPS15A"]
["RPS17"]
["RPS19"]
["RPS23"]
["RPS24"]
["RPS26"]
["RPS27"]
["RPS28"]
["RPS29"]
["RPS6KA3"]
["RPS7"]
["RPSA"]
["RRAS2"]
["RRM2B"]
["RS1"]
["RSPH1"]
["RSPH3"]
["RSPH4A"]
["RSPH9"]
["RSPO1"]
["RSPO2"]
["RSPO4"]
["RSPRY1"]
["RSRC1"]
["RTEL1"]
["RTN2"]
["RTN4IP1"]
["RTTN"]
["RUBCN"]
["RUNX1"]
["RUNX2"]
["RUSC2"]
["RXFP2"]
["RXYLT1"]
["RYR1"]
["RYR2"]
["S1PR2"]
["SACS"]
["SAG"]
["SALL1"]
["SALL2"]
["SALL4"]
["SAMD12"]
["SAMD9"]
["SAMD9L"]
["SAMHD1"]
["SAR1B"]
["SARS1"]
["SARS2"]
["SART3"]
["SASH1"]
["SASS6"]
["SATB2"]
["SBDS"]
["SBF1"]
["SBF2"]
["SC5D"]
["SCAPER"]
["SCARB2"]
["SCARF2"]
["SCD5"]
["SCN10A"]
["SCN11A"]
["SCN1A"]
["SCN1B"]
["SCN2A"]
["SCN2B"]
["SCN3A"]
["SCN3B"]
["SCN4A"]
["SCN4B"]
["SCN5A"]
["SCN8A"]
["SCN9A"]
["SCNN1A"]
["SCNN1B"]
["SCNN1G"]
["SCO1"]
["SCO2"]
["SCP2"]
["SCYL1"]
["SCYL2"]
["SDCCAG8"]
["SDHA"]
["SDHAF1"]
["SDHAF2"]
["SDHB"]
["SDHC"]
["SDHD"]
["SDR9C7"]
["SEC23A"]
["SEC23B"]
["SEC24D"]
["SEC31A"]
["SEC61A1"]
["SEC63"]
["SECISBP2"]
["SELENBP1"]
["SELENOI"]
["SELENON"]
["SEMA3A"]
["SEMA3E"]
["SEMA4A"]
["SEMA6B"]
["SEMA7A"]
["SEPSECS"]
["SEPTIN12"]
["SEPTIN9"]
["SERAC1"]
["SERPINA1"]
["SERPINA6"]
["SERPINA7"]
["SERPINB6"]
["SERPINB7"]
["SERPINB8"]
["SERPINC1"]
["SERPIND1"]
["SERPINE1"]
["SERPINF1"]
["SERPINF2"]
["SERPING1"]
["SERPINH1"]
["SERPINI1"]
["SET"]
["SETBP1"]
["SETD1A"]
["SETD1B"]
["SETD2"]
["SETD5"]
["SETX"]
["SF3B4"]
["SFRP4"]
["SFTPA2"]
["SFTPB"]
["SFTPC"]
["SFXN4"]
["SGCA"]
["SGCB"]
["SGCD"]
["SGCE"]
["SGCG"]
["SGMS2"]
["SGPL1"]
["SGSH"]
["SH2D1A"]
["SH3BP2"]
["SH3KBP1"]
["SH3PXD2B"]
["SH3TC2"]
["SHANK2"]
["SHANK3"]
["SHH"]
["SHMT2"]
["SHOC2"]
["SHOX"]
["SHPK"]
["SHROOM4"]
["SI"]
["SIGMAR1"]
["SIK1"]
["SIK3"]
["SIL1"]
["SIN3A"]
["SIPA1L3"]
["SIX1"]
["SIX3"]
["SIX5"]
["SIX6"]
["SKI"]
["SKIV2L"]
["SLC10A2"]
["SLC10A7"]
["SLC11A2"]
["SLC12A1"]
["SLC12A2"]
["SLC12A3"]
["SLC12A5"]
["SLC12A6"]
["SLC13A3"]
["SLC13A5"]
["SLC14A1"]
["SLC16A1"]
["SLC16A12"]
["SLC16A2"]
["SLC17A5"]
["SLC17A8"]
["SLC17A9"]
["SLC18A2"]
["SLC18A3"]
["SLC19A2"]
["SLC19A3"]
["SLC1A1"]
["SLC1A2"]
["SLC1A3"]
["SLC1A4"]
["SLC20A2"]
["SLC22A12"]
["SLC22A5"]
["SLC24A1"]
["SLC24A4"]
["SLC24A5"]
["SLC25A1"]
["SLC25A10"]
["SLC25A11"]
["SLC25A12"]
["SLC25A13"]
["SLC25A15"]
["SLC25A19"]
["SLC25A20"]
["SLC25A21"]
["SLC25A22"]
["SLC25A24"]
["SLC25A26"]
["SLC25A3"]
["SLC25A32"]
["SLC25A38"]
["SLC25A4"]
["SLC25A42"]
["SLC25A46"]
["SLC26A1"]
["SLC26A2"]
["SLC26A3"]
["SLC26A4"]
["SLC26A5"]
["SLC26A8"]
["SLC27A4"]
["SLC28A1"]
["SLC29A3"]
["SLC2A1"]
["SLC2A10"]
["SLC2A2"]
["SLC2A9"]
["SLC30A10"]
["SLC30A2"]
["SLC30A9"]
["SLC33A1"]
["SLC34A1"]
["SLC34A2"]
["SLC34A3"]
["SLC35A1"]
["SLC35A2"]
["SLC35A3"]
["SLC35C1"]
["SLC35D1"]
["SLC36A2"]
["SLC37A4"]
["SLC38A8"]
["SLC39A13"]
["SLC39A14"]
["SLC39A4"]
["SLC39A5"]
["SLC39A8"]
["SLC3A1"]
["SLC40A1"]
["SLC41A1"]
["SLC44A1"]
["SLC44A4"]
["SLC45A1"]
["SLC45A2"]
["SLC46A1"]
["SLC4A1"]
["SLC4A11"]
["SLC4A4"]
["SLC52A1"]
["SLC52A2"]
["SLC52A3"]
["SLC5A1"]
["SLC5A2"]
["SLC5A5"]
["SLC5A6"]
["SLC5A7"]
["SLC6A17"]
["SLC6A19"]
["SLC6A2"]
["SLC6A20"]
["SLC6A3"]
["SLC6A5"]
["SLC6A8"]
["SLC6A9"]
["SLC7A14"]
["SLC7A7"]
["SLC7A9"]
["SLC9A1"]
["SLC9A3"]
["SLC9A3R1"]
["SLC9A6"]
["SLC9A7"]
["SLC9A9"]
["SLCO1B1"]
["SLCO1B3"]
["SLCO2A1"]
["SLFN14"]
["SLITRK1"]
["SLITRK6"]
["SLURP1"]
["SLX4"]
["SMAD3"]
["SMAD4"]
["SMAD6"]
["SMAD9"]
["SMARCA2"]
["SMARCA4"]
["SMARCAD1"]
["SMARCAL1"]
["SMARCB1"]
["SMARCC2"]
["SMARCD1"]
["SMARCD2"]
["SMARCE1"]
["SMC1A"]
["SMC3"]
["SMCHD1"]
["SMG9"]
["SMIM1"]
["SMN1"]
["SMN2"]
["SMO"]
["SMOC1"]
["SMOC2"]
["SMPD1"]
["SMPD4"]
["SMPX"]
["SMS"]
["SNAI2"]
["SNAP25"]
["SNAP29"]
["SNCA"]
["SNCAIP"]
["SNCB"]
["SNIP1"]
["SNORD118"]
["SNRNP200"]
["SNRPB"]
["SNRPE"]
["SNTA1"]
["SNX10"]
["SNX14"]
["SOBP"]
["SOD1"]
["SOHLH1"]
["SON"]
["SORD"]
["SOS1"]
["SOS2"]
["SOST"]
["SOX10"]
["SOX11"]
["SOX17"]
["SOX18"]
["SOX2"]
["SOX3"]
["SOX4"]
["SOX5"]
["SOX6"]
["SOX9"]
["SP110"]
["SP7"]
["SPARC"]
["SPART"]
["SPAST"]
["SPATA16"]
["SPATA5"]
["SPATA7"]
["SPECC1L"]
["SPEF2"]
["SPEG"]
["SPG11"]
["SPG21"]
["SPG7"]
["SPINK1"]
["SPINK2"]
["SPINK5"]
["SPINT2"]
["SPNS2"]
["SPOP"]
["SPR"]
["SPRED1"]
["SPRY2"]
["SPRY4"]
["SPTA1"]
["SPTAN1"]
["SPTB"]
["SPTBN2"]
["SPTBN4"]
["SPTLC1"]
["SPTLC2"]
["SPZ1"]
["SQSTM1"]
["SRC"]
["SRCAP"]
["SRD5A2"]
["SRD5A3"]
["SREBF1"]
["SRP54"]
["SRP72"]
["SRPX2"]
["SRY"]
["SSBP1"]
["SSR4"]
["SSTR5"]
["ST14"]
["ST3GAL3"]
["ST3GAL5"]
["STAC3"]
["STAG1"]
["STAG2"]
["STAG3"]
["STAMBP"]
["STAR"]
["STARD7"]
["STAT1"]
["STAT2"]
["STAT3"]
["STAT5B"]
["STEAP3"]
["STEEP1"]
["STIL"]
["STIM1"]
["STING1"]
["STK11"]
["STK4"]
["STN1"]
["STRA6"]
["STRADA"]
["STRC"]
["STS"]
["STT3A"]
["STT3B"]
["STUB1"]
["STX11"]
["STX16"]
["STX1B"]
["STXBP1"]
["STXBP2"]
["SUCLA2"]
["SUCLG1"]
["SUFU"]
["SUGCT"]
["SULT2B1"]
["SUMF1"]
["SUMO1"]
["SUN5"]
["SUOX"]
["SURF1"]
["SUZ12"]
["SVBP"]
["SVIL"]
["SYCE1"]
["SYCP2"]
["SYCP3"]
["SYN1"]
["SYNE1"]
["SYNE2"]
["SYNE4"]
["SYNGAP1"]
["SYNJ1"]
["SYP"]
["SYT1"]
["SYT14"]
["SYT2"]
["SZT2"]
["TAB2"]
["TAC3"]
["TACO1"]
["TACR3"]
["TACSTD2"]
["TAF1"]
["TAF13"]
["TAF2"]
["TAF4B"]
["TAF6"]
["TAFAZZIN"]
["TALDO1"]
["TANC2"]
["TANGO2"]
["TAP1"]
["TAP2"]
["TAPBP"]
["TARDBP"]
["TARS1"]
["TARS2"]
["TAS2R16"]
["TAS2R38"]
["TASP1"]
["TAT"]
["TBC1D20"]
["TBC1D23"]
["TBC1D24"]
["TBC1D4"]
["TBC1D7"]
["TBC1D8B"]
["TBCD"]
["TBCE"]
["TBCK"]
["TBK1"]
["TBL1X"]
["TBL1XR1"]
["TBL1Y"]
["TBP"]
["TBR1"]
["TBX1"]
["TBX15"]
["TBX18"]
["TBX19"]
["TBX2"]
["TBX20"]
["TBX22"]
["TBX3"]
["TBX4"]
["TBX5"]
["TBX6"]
["TBXA2R"]
["TBXAS1"]
["TBXT"]
["TCAP"]
["TCF12"]
["TCF20"]
["TCF3"]
["TCF4"]
["TCHH"]
["TCIRG1"]
["TCN2"]
["TCOF1"]
["TCTN1"]
["TCTN2"]
["TCTN3"]
["TDGF1"]
["TDO2"]
["TDP1"]
["TDP2"]
["TDRD7"]
["TDRD9"]
["TEAD1"]
["TECPR2"]
["TECR"]
["TECRL"]
["TECTA"]
["TEK"]
["TELO2"]
["TENM1"]
["TENM3"]
["TENM4"]
["TENT5A"]
["TERC"]
["TERT"]
["TET2"]
["TET3"]
["TEX11"]
["TEX14"]
["TEX15"]
["TF"]
["TFAM"]
["TFAP2A"]
["TFAP2B"]
["TFG"]
["TFR2"]
["TFRC"]
["TG"]
["TGDS"]
["TGFB1"]
["TGFB2"]
["TGFB3"]
["TGFBI"]
["TGFBR1"]
["TGFBR2"]
["TGIF1"]
["TGM1"]
["TGM3"]
["TGM5"]
["TGM6"]
["TH"]
["THAP1"]
["THBD"]
["THG1L"]
["THOC2"]
["THOC6"]
["THPO"]
["THRA"]
["THRB"]
["THSD1"]
["TIA1"]
["TICAM1"]
["TIMM22"]
["TIMM50"]
["TIMM8A"]
["TIMMDC1"]
["TIMP3"]
["TINF2"]
["TJP2"]
["TK2"]
["TKFC"]
["TKT"]
["TLE6"]
["TLK2"]
["TLL1"]
["TLR3"]
["TLR7"]
["TM4SF20"]
["TMC1"]
["TMC6"]
["TMC8"]
["TMCO1"]
["TMEM106B"]
["TMEM107"]
["TMEM126A"]
["TMEM126B"]
["TMEM127"]
["TMEM132E"]
["TMEM138"]
["TMEM165"]
["TMEM199"]
["TMEM216"]
["TMEM231"]
["TMEM237"]
["TMEM240"]
["TMEM260"]
["TMEM38B"]
["TMEM43"]
["TMEM63A"]
["TMEM67"]
["TMEM70"]
["TMEM94"]
["TMEM98"]
["TMIE"]
["TMLHE"]
["TMPO"]
["TMPRSS15"]
["TMPRSS3"]
["TMPRSS6"]
["TMTC3"]
["TMX2"]
["TNC"]
["TNFAIP3"]
["TNFRSF10B"]
["TNFRSF11A"]
["TNFRSF11B"]
["TNFRSF13B"]
["TNFRSF13C"]
["TNFRSF1A"]
["TNFRSF4"]
["TNFSF11"]
["TNIK"]
["TNNC1"]
["TNNI2"]
["TNNI3"]
["TNNI3K"]
["TNNT1"]
["TNNT2"]
["TNNT3"]
["TNPO3"]
["TNRC6A"]
["TNXB"]
["TOE1"]
["TONSL"]
["TOP3A"]
["TOPORS"]
["TOR1A"]
["TOR1AIP1"]
["TOR1AIP2"]
["TP53"]
["TP53RK"]
["TP63"]
["TPCN2"]
["TPI1"]
["TPK1"]
["TPM1"]
["TPM2"]
["TPM3"]
["TPMT"]
["TPO"]
["TPP1"]
["TPRKB"]
["TPRN"]
["TPSAB1"]
["TRAC"]
["TRAF3"]
["TRAF3IP1"]
["TRAF3IP2"]
["TRAF7"]
["TRAIP"]
["TRAK1"]
["TRAP1"]
["TRAPPC11"]
["TRAPPC12"]
["TRAPPC14"]
["TRAPPC2"]
["TRAPPC2L"]
["TRAPPC4"]
["TRAPPC6B"]
["TRAPPC9"]
["TRDN"]
["TREH"]
["TREM2"]
["TREX1"]
["TRHR"]
["TRIM2"]
["TRIM32"]
["TRIM36"]
["TRIM37"]
["TRIM44"]
["TRIM71"]
["TRIO"]
["TRIOBP"]
["TRIP11"]
["TRIP12"]
["TRIP13"]
["TRIP4"]
["TRIT1"]
["TRMT1"]
["TRMT10A"]
["TRMT10C"]
["TRMT5"]
["TRMU"]
["TRNT1"]
["TRPA1"]
["TRPC3"]
["TRPC6"]
["TRPM1"]
["TRPM4"]
["TRPM6"]
["TRPS1"]
["TRPV3"]
["TRPV4"]
["TRRAP"]
["TSC1"]
["TSC2"]
["TSEN15"]
["TSEN2"]
["TSEN34"]
["TSEN54"]
["TSFM"]
["TSGA10"]
["TSHB"]
["TSHR"]
["TSHZ1"]
["TSPAN12"]
["TSPAN7"]
["TSPEAR"]
["TSPYL1"]
["TSR2"]
["TTBK2"]
["TTC12"]
["TTC19"]
["TTC21B"]
["TTC29"]
["TTC37"]
["TTC7A"]
["TTC8"]
["TTI2"]
["TTLL5"]
["TTN"]
["TTPA"]
["TTR"]
["TUB"]
["TUBA1A"]
["TUBA3D"]
["TUBA4A"]
["TUBA8"]
["TUBB"]
["TUBB1"]
["TUBB2A"]
["TUBB2B"]
["TUBB3"]
["TUBB4A"]
["TUBB4B"]
["TUBB6"]
["TUBB8"]
["TUBG1"]
["TUBGCP2"]
["TUBGCP4"]
["TUBGCP6"]
["TUFM"]
["TULP1"]
["TUSC3"]
["TWIST1"]
["TWIST2"]
["TWNK"]
["TXN2"]
["TXNL4A"]
["TXNRD2"]
["TYK2"]
["TYMP"]
["TYR"]
["TYROBP"]
["TYRP1"]
["UBA1"]
["UBA5"]
["UBAP1"]
["UBE2A"]
["UBE2T"]
["UBE3A"]
["UBE3B"]
["UBIAD1"]
["UBQLN2"]
["UBR1"]
["UBTF"]
["UCHL1"]
["UFC1"]
["UFM1"]
["UFSP2"]
["UGDH"]
["UGP2"]
["UGT1A1"]
["UMOD"]
["UMPS"]
["UNC119"]
["UNC13D"]
["UNC45B"]
["UNC80"]
["UNC93B1"]
["UNG"]
["UPB1"]
["UPF3B"]
["UPK3A"]
["UQCC2"]
["UQCC3"]
["UQCRB"]
["UQCRC2"]
["UQCRFS1"]
["UQCRQ"]
["UROC1"]
["UROD"]
["UROS"]
["USB1"]
["USH1C"]
["USH1G"]
["USH2A"]
["USP18"]
["USP27X"]
["USP45"]
["USP7"]
["USP9X"]
["USP9Y"]
["UTP4"]
["UVSSA"]
["VAC14"]
["VAMP1"]
["VAMP2"]
["VANGL1"]
["VANGL2"]
["VAPB"]
["VARS1"]
["VARS2"]
["VAX1"]
["VCAN"]
["VCL"]
["VCP"]
["VDR"]
["VEGFC"]
["VHL"]
["VIM"]
["VIPAS39"]
["VKORC1"]
["VLDLR"]
["VMA21"]
["VPS11"]
["VPS13A"]
["VPS13B"]
["VPS13C"]
["VPS13D"]
["VPS33A"]
["VPS35"]
["VPS37A"]
["VPS39"]
["VPS45"]
["VPS51"]
["VPS53"]
["VRK1"]
["VSX1"]
["VSX2"]
["VWA3B"]
["VWF"]
["WAC"]
["WARS1"]
["WARS2"]
["WAS"]
["WASF1"]
["WASHC4"]
["WASHC5"]
["WBP2"]
["WDFY3"]
["WDPCP"]
["WDR11"]
["WDR19"]
["WDR26"]
["WDR35"]
["WDR37"]
["WDR4"]
["WDR45"]
["WDR45B"]
["WDR62"]
["WDR72"]
["WDR73"]
["WDR81"]
["WEE2"]
["WFS1"]
["WHRN"]
["WIPF1"]
["WIPI2"]
["WNK1"]
["WNK4"]
["WNT1"]
["WNT10A"]
["WNT10B"]
["WNT2B"]
["WNT3"]
["WNT4"]
["WNT5A"]
["WNT7A"]
["WRAP53"]
["WRN"]
["WT1"]
["WWOX"]
["XDH"]
["XG"]
["XIAP"]
["XIST"]
["XK"]
["XPA"]
["XPC"]
["XPNPEP2"]
["XPNPEP3"]
["XPR1"]
["XRCC1"]
["XRCC2"]
["XRCC4"]
["XYLT1"]
["XYLT2"]
["YAP1"]
["YARS1"]
["YARS2"]
["YEATS2"]
["YIF1B"]
["YME1L1"]
["YWHAG"]
["YWHAZ"]
["YY1"]
["YY1AP1"]
["ZAP70"]
["ZBTB11"]
["ZBTB16"]
["ZBTB18"]
["ZBTB20"]
["ZBTB24"]
["ZBTB42"]
["ZC3H14"]
["ZC4H2"]
["ZCCHC8"]
["ZDHHC15"]
["ZDHHC9"]
["ZEB1"]
["ZEB2"]
["ZFHX2"]
["ZFP57"]
["ZFPM2"]
["ZFYVE26"]
["ZFYVE27"]
["ZIC1"]
["ZIC2"]
["ZIC3"]
["ZIM2"]
["ZMIZ1"]
["ZMPSTE24"]
["ZMYND10"]
["ZMYND11"]
["ZMYND15"]
["ZNF141"]
["ZNF142"]
["ZNF148"]
["ZNF335"]
["ZNF341"]
["ZNF408"]
["ZNF41"]
["ZNF423"]
["ZNF462"]
["ZNF469"]
["ZNF480"]
["ZNF513"]
["ZNF565"]
["ZNF592"]
["ZNF644"]
["ZNF674"]
["ZNF687"]
["ZNF711"]
["ZNF750"]
["ZNF81"]
["ZNHIT3"]
["ZP1"]
["ZP2"]
["ZP3"]
["ZSWIM6"]

{"sheet":"HPO_Check","index":14,"n_rows":200,"n_cols":17,"rows_kept":200,"cut":false,"hidden":true,"merged":[[2,16,2,20]]}
["HPO List Transformed","Error?",null,"HPO List No Error","HPO ID","HPO List Error"]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs!A32))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A2, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,{"$f":"IF(ISERROR(TRUE), \"\", IF(B2=FALSE, A2, \"\"))","v":""},{"$f":"IF(D2=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D2,HPO_terms!A:A,0)))","v":""},{"$f":"IF(B2=TRUE, A2, \"\")","v":""}]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs!A33))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A3, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,{"$f":"IF(ISERROR(TRUE), \"\", IF(B3=FALSE, A3, \"\"))","v":""},{"$f":"IF(D3=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D3,HPO_terms!A:A,0)))","v":""},{"$f":"IF(B3=TRUE, A3, \"\")","v":""},null,null,null,null,null,null,null,null,null,null,"This Sheet is Lab Use Only"]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs!A34))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A4, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D4=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D4,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs!A35))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A5, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D5=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D5,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs!A36))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A6, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D6=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D6,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs!A37))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A7, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D7=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D7,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs!A38))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A8, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D8=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D8,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs!A39))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A9, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D9=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D9,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs!A40))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A10, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D10=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D10,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs!A41))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A11, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D11=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D11,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs!A42))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A12, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D12=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D12,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs!A43))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A13, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D13=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D13,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs!A44))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A14, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D14=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D14,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs!A45))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A15, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D15=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D15,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs!A46))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A16, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D16=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D16,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs!A47))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A17, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D17=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D17,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs!A48))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A18, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D18=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D18,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs!A49))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A19, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D19=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D19,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs!A50))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A20, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D20=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D20,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs!A51))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A21, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D21=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D21,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs!A52))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A22, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D22=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D22,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs!A53))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A23, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D23=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D23,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs!A54))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A24, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D24=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D24,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs!A55))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A25, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D25=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D25,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs!A56))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A26, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D26=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D26,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs!A57))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A27, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D27=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D27,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs!A58))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A28, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D28=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D28,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs!A59))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A29, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D29=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D29,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs!A60))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A30, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D30=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D30,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs!A61))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A31, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D31=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D31,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs!A62))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A32, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D32=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D32,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs!A63))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A33, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D33=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D33,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs!A64))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A34, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D34=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D34,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs!A65))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A35, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D35=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D35,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs!A66))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A36, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D36=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D36,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs!A67))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A37, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D37=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D37,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs!A68))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A38, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D38=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D38,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs!A69))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A39, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D39=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D39,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs!A70))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A40, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D40=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D40,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs!A71))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A41, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D41=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D41,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs!A72))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A42, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D42=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D42,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs!A73))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A43, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D43=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D43,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs!A74))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A44, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D44=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D44,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs!A75))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A45, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D45=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D45,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs!A76))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A46, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D46=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D46,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs!A77))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A47, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D47=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D47,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs!A78))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A48, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D48=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D48,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs!A79))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A49, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D49=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D49,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs!A80))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A50, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D50=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D50,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs!A81))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A51, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D51=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D51,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs!A82))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A52, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D52=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D52,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs!A83))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A53, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D53=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D53,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs!A84))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A54, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D54=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D54,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs!A85))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A55, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D55=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D55,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs!A86))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A56, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D56=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D56,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs!A87))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A57, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D57=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D57,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs!A88))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A58, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D58=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D58,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs!A89))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A59, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D59=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D59,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs!A90))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A60, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D60=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D60,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs!A91))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A61, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D61=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D61,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs!A92))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A62, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D62=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D62,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs!A93))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A63, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D63=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D63,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs!A94))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A64, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D64=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D64,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs!A95))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A65, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D65=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D65,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs!A96))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A66, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D66=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D66,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs!A97))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A67, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,{"$f":"IF(ISERROR(TRUE), \"\", IF(B67=FALSE, A67, \"\"))","v":""},{"$f":"IF(D67=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D67,HPO_terms!A:A,0)))","v":""},{"$f":"IF(B67=TRUE, A67, \"\")","v":""}]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs!A98))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A68, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D68=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D68,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs!A99))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A69, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D69=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D69,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs!A100))","v":"716"},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A70, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D70=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D70,HPO_terms!A:A,0)))","v":""},"716"]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs!A101))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A71, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D71=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D71,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs!A102))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A72, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D72=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D72,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs!A103))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A73, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D73=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D73,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs!A104))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A74, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D74=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D74,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs!A105))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A75, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D75=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D75,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs!A106))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A76, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D76=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D76,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs!A107))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A77, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D77=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D77,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs!A108))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A78, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D78=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D78,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs!A109))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A79, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D79=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D79,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs!A110))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A80, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D80=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D80,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs!A111))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A81, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D81=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D81,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs!A112))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A82, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D82=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D82,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs!A113))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A83, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D83=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D83,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs!A114))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A84, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D84=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D84,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs!A115))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A85, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D85=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D85,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs!A116))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A86, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D86=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D86,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs!A117))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A87, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D87=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D87,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs!A118))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A88, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D88=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D88,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs!A119))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A89, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D89=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D89,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs!A120))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A90, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D90=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D90,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs!A121))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A91, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D91=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D91,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs!A122))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A92, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D92=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D92,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs!A123))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A93, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D93=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D93,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs!A124))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A94, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D94=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D94,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs!A125))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A95, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D95=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D95,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs!A126))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A96, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D96=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D96,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs!A127))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A97, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D97=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D97,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs!A128))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A98, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D98=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D98,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs!A129))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A99, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D99=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D99,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs_Update!A32))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A100, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D100=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D100,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs_Update!A33))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A101, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D101=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D101,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs_Update!A34))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A102, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D102=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D102,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs_Update!A35))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A103, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D103=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D103,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs_Update!A36))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A104, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D104=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D104,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs_Update!A37))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A105, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D105=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D105,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs_Update!A38))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A106, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D106=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D106,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs_Update!A39))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A107, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D107=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D107,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs_Update!A40))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A108, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D108=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D108,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs_Update!A41))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A109, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D109=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D109,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs_Update!A42))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A110, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D110=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D110,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs_Update!A43))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A111, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D111=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D111,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs_Update!A44))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A112, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D112=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D112,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs_Update!A45))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A113, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D113=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D113,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs_Update!A46))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A114, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D114=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D114,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs_Update!A47))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A115, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D115=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D115,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs_Update!A48))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A116, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D116=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D116,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs_Update!A49))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A117, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D117=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D117,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs_Update!A50))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A118, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D118=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D118,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs_Update!A51))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A119, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D119=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D119,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs_Update!A52))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A120, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D120=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D120,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs_Update!A53))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A121, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D121=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D121,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs_Update!A54))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A122, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D122=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D122,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs_Update!A55))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A123, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D123=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D123,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs_Update!A56))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A124, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D124=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D124,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs_Update!A57))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A125, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D125=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D125,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs_Update!A58))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A126, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D126=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D126,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs_Update!A59))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A127, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D127=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D127,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs_Update!A60))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A128, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D128=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D128,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs_Update!A61))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A129, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D129=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D129,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs_Update!A62))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A130, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D130=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D130,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs_Update!A63))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A131, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,{"$f":"IF(ISERROR(TRUE), \"\", IF(B131=FALSE, A131, \"\"))","v":""},{"$f":"IF(D131=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D131,HPO_terms!A:A,0)))","v":""},{"$f":"IF(B131=TRUE, A131, \"\")","v":""}]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs_Update!A64))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A132, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D132=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D132,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs_Update!A65))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A133, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D133=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D133,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs_Update!A66))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A134, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D134=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D134,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs_Update!A67))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A135, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D135=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D135,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs_Update!A68))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A136, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D136=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D136,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs_Update!A69))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A137, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D137=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D137,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs_Update!A70))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A138, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D138=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D138,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs_Update!A71))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A139, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D139=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D139,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs_Update!A72))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A140, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D140=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D140,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs_Update!A73))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A141, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D141=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D141,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs_Update!A74))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A142, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D142=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D142,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs_Update!A75))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A143, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D143=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D143,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs_Update!A76))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A144, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D144=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D144,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs_Update!A77))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A145, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D145=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D145,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs_Update!A78))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A146, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D146=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D146,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs_Update!A79))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A147, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D147=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D147,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs_Update!A80))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A148, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D148=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D148,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs_Update!A81))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A149, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D149=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D149,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs_Update!A82))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A150, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D150=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D150,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs_Update!A83))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A151, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D151=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D151,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs_Update!A84))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A152, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D152=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D152,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs_Update!A85))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A153, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D153=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D153,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs_Update!A86))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A154, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D154=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D154,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs_Update!A87))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A155, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D155=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D155,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs_Update!A88))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A156, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D156=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D156,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs_Update!A89))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A157, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D157=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D157,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs_Update!A90))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A158, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D158=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D158,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs_Update!A91))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A159, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D159=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D159,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs_Update!A92))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A160, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D160=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D160,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs_Update!A93))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A161, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D161=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D161,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs_Update!A94))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A162, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D162=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D162,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs_Update!A95))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A163, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D163=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D163,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs_Update!A96))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A164, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D164=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D164,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs_Update!A97))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A165, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D165=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D165,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs_Update!A98))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A166, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D166=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D166,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs_Update!A99))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A167, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D167=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D167,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs_Update!A100))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A168, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D168=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D168,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs_Update!A101))","v":"716"},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A169, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D169=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D169,HPO_terms!A:A,0)))","v":""},"716"]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs_Update!A102))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A170, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D170=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D170,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs_Update!A103))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A171, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D171=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D171,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs_Update!A104))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A172, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D172=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D172,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs_Update!A105))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A173, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D173=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D173,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs_Update!A106))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A174, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D174=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D174,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs_Update!A107))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A175, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D175=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D175,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs_Update!A108))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A176, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D176=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D176,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs_Update!A109))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A177, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D177=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D177,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs_Update!A110))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A178, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D178=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D178,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs_Update!A111))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A179, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D179=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D179,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs_Update!A112))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A180, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D180=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D180,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs_Update!A113))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A181, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D181=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D181,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs_Update!A114))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A182, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D182=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D182,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs_Update!A115))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A183, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D183=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D183,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs_Update!A116))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A184, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D184=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D184,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs_Update!A117))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A185, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D185=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D185,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs_Update!A118))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A186, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D186=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D186,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs_Update!A119))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A187, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D187=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D187,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs_Update!A120))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A188, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D188=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D188,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs_Update!A121))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A189, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D189=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D189,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs_Update!A122))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A190, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D190=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D190,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs_Update!A123))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A191, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D191=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D191,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs_Update!A124))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A192, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D192=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D192,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs_Update!A125))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A193, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D193=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D193,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs_Update!A126))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A194, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D194=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D194,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs_Update!A127))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A195, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,{"$f":"IF(ISERROR(TRUE), \"\", IF(B195=FALSE, A195, \"\"))","v":""},{"$f":"IF(D195=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D195,HPO_terms!A:A,0)))","v":""},{"$f":"IF(B195=TRUE, A195, \"\")","v":""}]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs_Update!A128))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A196, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D196=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D196,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs_Update!A129))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A197, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D197=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D197,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs_Update!A130))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A198, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D198=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D198,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs_Update!A131))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A199, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D199=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D199,HPO_terms!A:A,0)))","v":""},""]
[{"$f":"IF(ISERROR(TRUE),\"\",TRIM(Inputs_Update!A132))","v":""},{"$f":"ISERROR(INDEX(HPO_terms!$A$2:$A$17000, MATCH(A200, HPO_terms!$A$2:$A$17000, 0)))","v":true},null,"",{"$f":"IF(D200=\"\",\"\",INDEX(HPO_terms!B:B,MATCH(D200,HPO_terms!A:A,0)))","v":""},""]

{"sheet":"HPO_terms","index":15,"n_rows":16546,"n_cols":11,"rows_kept":16546,"cut":false,"hidden":true,"merged":[[1,10,1,14]]}
["Name","ID"]
["All","HP:0000001",null,null,null,null,null,null,null,null,"This Sheet is Lab Use Only"]
["Abnormality of body height","HP:0000002"]
["Multicystic kidney dysplasia","HP:0000003"]
["Mode of inheritance","HP:0000005"]
["Autosomal dominant inheritance","HP:0000006"]
["Autosomal recessive inheritance","HP:0000007"]
["Abnormal morphology of female internal genitalia","HP:0000008"]
["Functional abnormality of the bladder","HP:0000009"]
["Recurrent urinary tract infections","HP:0000010"]
["Neurogenic bladder","HP:0000011"]
["Urinary urgency","HP:0000012"]
["Hypoplasia of the uterus","HP:0000013"]
["Abnormality of the bladder","HP:0000014"]
["Bladder diverticulum","HP:0000015"]
["Urinary retention","HP:0000016"]
["Nocturia","HP:0000017"]
["Urinary hesitancy","HP:0000019"]
["Urinary incontinence","HP:0000020"]
["Megacystis","HP:0000021"]
["Abnormality of male internal genitalia","HP:0000022"]
["Inguinal hernia","HP:0000023"]
["Prostatitis","HP:0000024"]
["Functional abnormality of male internal genitalia","HP:0000025"]
["Male hypogonadism","HP:0000026"]
["Azoospermia","HP:0000027"]
["Cryptorchidism","HP:0000028"]
["Testicular atrophy","HP:0000029"]
["Testicular gonadoblastoma","HP:0000030"]
["Epididymitis","HP:0000031"]
["Abnormality of male external genitalia","HP:0000032"]
["Ambiguous genitalia, male","HP:0000033"]
["Hydrocele testis","HP:0000034"]
["Abnormal testis morphology","HP:0000035"]
["Abnormal penis morphology","HP:0000036"]
["Male pseudohermaphroditism","HP:0000037"]
["Epispadias","HP:0000039"]
["Long penis","HP:0000040"]
["Chordee","HP:0000041"]
["Absent external genitalia","HP:0000042"]
["Hypogonadotropic hypogonadism","HP:0000044"]
["Abnormality of the scrotum","HP:0000045"]
["Scrotal hypoplasia","HP:0000046"]
["Hypospadias","HP:0000047"]
["Bifid scrotum","HP:0000048"]
["Shawl scrotum","HP:0000049"]
["Hypoplastic male external genitalia","HP:0000050"]
["Perineal hypospadias","HP:0000051"]
["Urethral atresia, male","HP:0000052"]
["Macroorchidism","HP:0000053"]
["Micropenis","HP:0000054"]
["Abnormality of female external genitalia","HP:0000055"]
["Abnormality of the clitoris","HP:0000056"]
["obsolete Clitoromegaly","HP:0000057"]
["Abnormal labia morphology","HP:0000058"]
["Hypoplastic labia majora","HP:0000059"]
["Clitoral hypoplasia","HP:0000060"]
["Ambiguous genitalia, female","HP:0000061"]
["Ambiguous genitalia","HP:0000062"]
["Fused labia minora","HP:0000063"]
["Hypoplastic labia minora","HP:0000064"]
["Labial hypertrophy","HP:0000065"]
["Labial hypoplasia","HP:0000066"]
["Urethral atresia, female","HP:0000067"]
["Urethral atresia","HP:0000068"]
["Abnormality of the ureter","HP:0000069"]
["Ureterocele","HP:0000070"]
["Ureteral stenosis","HP:0000071"]
["Hydroureter","HP:0000072"]
["Ureteral duplication","HP:0000073"]
["Ureteropelvic junction obstruction","HP:0000074"]
["Renal duplication","HP:0000075"]
["Vesicoureteral reflux","HP:0000076"]
["Abnormality of the kidney","HP:0000077"]
["Abnormality of the genital system","HP:0000078"]
["Abnormality of the urinary system","HP:0000079"]
["Abnormality of reproductive system physiology","HP:0000080"]
["Duplicated collecting system","HP:0000081"]
["Renal insufficiency","HP:0000083"]
["Horseshoe kidney","HP:0000085"]
["Ectopic kidney","HP:0000086"]
["Renal hypoplasia","HP:0000089"]
["Nephronophthisis","HP:0000090"]
["Abnormal renal tubule morphology","HP:0000091"]
["Renal tubular atrophy","HP:0000092"]
["Proteinuria","HP:0000093"]
["Abnormal renal glomerulus morphology","HP:0000095"]
["Glomerular sclerosis","HP:0000096"]
["Focal segmental glomerulosclerosis","HP:0000097"]
["Tall stature","HP:0000098"]
["Glomerulonephritis","HP:0000099"]
["Nephrotic syndrome","HP:0000100"]
["Polyuria","HP:0000103"]
["Renal agenesis","HP:0000104"]
["Enlarged kidney","HP:0000105"]
["Renal cyst","HP:0000107"]
["Renal corticomedullary cysts","HP:0000108"]
["Renal dysplasia","HP:0000110"]
["Renal juxtaglomerular cell hypertrophy/hyperplasia","HP:0000111"]
["Nephropathy","HP:0000112"]
["Polycystic kidney dysplasia","HP:0000113"]
["Proximal tubulopathy","HP:0000114"]
["Renal phosphate wasting","HP:0000117"]
["Phenotypic abnormality","HP:0000118"]
["Abnormality of the genitourinary system","HP:0000119"]
["Nephrocalcinosis","HP:0000121"]
["Unilateral renal agenesis","HP:0000122"]
["Nephritis","HP:0000123"]
["Renal tubular dysfunction","HP:0000124"]
["Pelvic kidney","HP:0000125"]
["Hydronephrosis","HP:0000126"]
["Renal salt wasting","HP:0000127"]
["Renal potassium wasting","HP:0000128"]
["Abnormality of the uterus","HP:0000130"]
["Uterine leiomyoma","HP:0000131"]
["Menorrhagia","HP:0000132"]
["Gonadal dysgenesis","HP:0000133"]
["Female hypogonadism","HP:0000134"]
["Hypogonadism","HP:0000135"]
["Bifid uterus","HP:0000136"]
["Abnormality of the ovary","HP:0000137"]
["Ovarian cyst","HP:0000138"]
["Uterine prolapse","HP:0000139"]
["Abnormality of the menstrual cycle","HP:0000140"]
["Amenorrhea","HP:0000141"]
["Abnormal vagina morphology","HP:0000142"]
["Rectovaginal fistula","HP:0000143"]
["Decreased fertility","HP:0000144"]
["Transverse vaginal septum","HP:0000145"]
["Polycystic ovaries","HP:0000147"]
["Vaginal atresia","HP:0000148"]
["Ovarian gonadoblastoma","HP:0000149"]
["Gonadoblastoma","HP:0000150"]
["Aplasia of the uterus","HP:0000151"]
["Abnormality of head or neck","HP:0000152"]
["Abnormality of the mouth","HP:0000153"]
["Wide mouth","HP:0000154"]
["Oral ulcer","HP:0000155"]
["Abnormality of the tongue","HP:0000157"]
["Macroglossia","HP:0000158"]
["Abnormal lip morphology","HP:0000159"]
["Narrow mouth","HP:0000160"]
["Median cleft lip","HP:0000161"]
["Glossoptosis","HP:0000162"]
["Abnormal oral cavity morphology","HP:0000163"]
["Abnormality of the dentition","HP:0000164"]
["Severe periodontitis","HP:0000166"]
["Abnormality of the gingiva","HP:0000168"]
["Gingival fibromatosis","HP:0000169"]
["Microglossia","HP:0000171"]
["Abnormal uvula morphology","HP:0000172"]
["Abnormal palate morphology","HP:0000174"]
["Cleft palate","HP:0000175"]
["Submucous cleft hard palate","HP:0000176"]
["Abnormality of upper lip","HP:0000177"]
["Abnormality of lower lip","HP:0000178"]
["Thick lower lip vermilion","HP:0000179"]
["Lobulated tongue","HP:0000180"]
["Movement abnormality of the tongue","HP:0000182"]
["Difficulty in tongue movements","HP:0000183"]
["Cleft soft palate","HP:0000185"]
["Broad alveolar ridges","HP:0000187"]
["Short upper lip","HP:0000188"]
["Narrow palate","HP:0000189"]
["Abnormal oral frenulum morphology","HP:0000190"]
["Accessory oral frenulum","HP:0000191"]
["Bifid uvula","HP:0000193"]
["Open mouth","HP:0000194"]
["Lower lip pit","HP:0000196"]
["Abnormal parotid gland morphology","HP:0000197"]
["Absence of Stensen duct","HP:0000198"]
["Tongue nodules","HP:0000199"]
["Short lingual frenulum","HP:0000200"]
["Pierre-Robin sequence","HP:0000201"]
["Oral cleft","HP:0000202"]
["Cleft upper lip","HP:0000204"]
["Pursed lips","HP:0000205"]
["Glossitis","HP:0000206"]
["Triangular mouth","HP:0000207"]
["Trismus","HP:0000211"]
["Gingival overgrowth","HP:0000212"]
["Lip telangiectasia","HP:0000214"]
["Thick upper lip vermilion","HP:0000215"]
["Broad secondary alveolar ridge","HP:0000216"]
["Xerostomia","HP:0000217"]
["High palate","HP:0000218"]
["Thin upper lip vermilion","HP:0000219"]
["Velopharyngeal insufficiency","HP:0000220"]
["Furrowed tongue","HP:0000221"]
["Gingival hyperkeratosis","HP:0000222"]
["Abnormality of taste sensation","HP:0000223"]
["Hypogeusia","HP:0000224"]
["Gingival bleeding","HP:0000225"]
["Tongue telangiectasia","HP:0000227"]
["Oral cavity telangiectasia","HP:0000228"]
["Gingivitis","HP:0000230"]
["Everted lower lip vermilion","HP:0000232"]
["Thin vermilion border","HP:0000233"]
["Abnormality of the head","HP:0000234"]
["Abnormality of the fontanelles or cranial sutures","HP:0000235"]
["Abnormality of the anterior fontanelle","HP:0000236"]
["Small anterior fontanelle","HP:0000237"]
["Hydrocephalus","HP:0000238"]
["Large fontanelles","HP:0000239"]
["Abnormality of skull size","HP:0000240"]
["Parietal bossing","HP:0000242"]
["Trigonocephaly","HP:0000243"]
["Brachyturricephaly","HP:0000244"]
["Abnormal paranasal sinus morphology","HP:0000245"]
["Sinusitis","HP:0000246"]
["Brachycephaly","HP:0000248"]
["Dense calvaria","HP:0000250"]
["Microcephaly","HP:0000252"]
["Progressive microcephaly","HP:0000253"]
["Acute sinusitis","HP:0000255"]
["Macrocephaly","HP:0000256"]
["Wide anterior fontanel","HP:0000260"]
["Turricephaly","HP:0000262"]
["Oxycephaly","HP:0000263"]
["Abnormality of the mastoid","HP:0000264"]
["Mastoiditis","HP:0000265"]
["Cranial asymmetry","HP:0000267"]
["Dolichocephaly","HP:0000268"]
["Prominent occiput","HP:0000269"]
["Delayed cranial suture closure","HP:0000270"]
["Abnormality of the face","HP:0000271"]
["Malar flattening","HP:0000272"]
["Facial grimacing","HP:0000273"]
["Small face","HP:0000274"]
["Narrow face","HP:0000275"]
["Long face","HP:0000276"]
["Abnormality of the mandible","HP:0000277"]
["Retrognathia","HP:0000278"]
["Coarse facial features","HP:0000280"]
["Facial edema","HP:0000282"]
["Broad face","HP:0000283"]
["obsolete Abnormality of the ocular region","HP:0000284"]
["Epicanthus","HP:0000286"]
["Increased facial adipose tissue","HP:0000287"]
["Abnormality of the philtrum","HP:0000288"]
["Broad philtrum","HP:0000289"]
["Abnormality of the forehead","HP:0000290"]
["Abnormality of facial adipose tissue","HP:0000291"]
["Loss of facial adipose tissue","HP:0000292"]
["Full cheeks","HP:0000293"]
["Low anterior hairline","HP:0000294"]
["Doll-like facies","HP:0000295"]
["Facial hypotonia","HP:0000297"]
["Mask-like facies","HP:0000298"]
["Oval face","HP:0000300"]
["Abnormality of facial musculature","HP:0000301"]
["Mandibular prognathia","HP:0000303"]
["Abnormality of the chin","HP:0000306"]
["Pointed chin","HP:0000307"]
["Microretrognathia","HP:0000308"]
["Abnormality of the midface","HP:0000309"]
["Round face","HP:0000311"]
["Abnormality of the orbital region","HP:0000315"]
["Hypertelorism","HP:0000316"]
["Facial myokymia","HP:0000317"]
["Smooth philtrum","HP:0000319"]
["Bird-like facies","HP:0000320"]
["Square face","HP:0000321"]
["Short philtrum","HP:0000322"]
["Facial asymmetry","HP:0000324"]
["Triangular face","HP:0000325"]
["Abnormality of the maxilla","HP:0000326"]
["Hypoplasia of the maxilla","HP:0000327"]
["Facial hemangioma","HP:0000329"]
["Short chin","HP:0000331"]
["Prominent supraorbital ridges","HP:0000336"]
["Broad forehead","HP:0000337"]
["Hypomimic face","HP:0000338"]
["Pugilistic facies","HP:0000339"]
["Sloping forehead","HP:0000340"]
["Narrow forehead","HP:0000341"]
["Long philtrum","HP:0000343"]
["Whistling appearance","HP:0000346"]
["Micrognathia","HP:0000347"]
["High forehead","HP:0000348"]
["Widow's peak","HP:0000349"]
["Small forehead","HP:0000350"]
["Abnormality of the outer ear","HP:0000356"]
["Abnormal location of ears","HP:0000357"]
["Posteriorly rotated ears","HP:0000358"]
["Abnormality of the inner ear","HP:0000359"]
["Tinnitus","HP:0000360"]
["obsolete Pulsatile tinnitus (tympanic paraganglioma)","HP:0000361"]
["Otosclerosis","HP:0000362"]
["Abnormality of earlobe","HP:0000363"]
["Hearing abnormality","HP:0000364"]
["Hearing impairment","HP:0000365"]
["Abnormality of the nose","HP:0000366"]
["Low-set, posteriorly rotated ears","HP:0000368"]
["Low-set ears","HP:0000369"]
["Abnormality of the middle ear","HP:0000370"]
["Acute otitis media","HP:0000371"]
["Abnormality of the auditory canal","HP:0000372"]
["Abnormal cochlea morphology","HP:0000375"]
["Incomplete partition of the cochlea type II","HP:0000376"]
["Abnormality of the pinna","HP:0000377"]
["Cupped ear","HP:0000378"]
["Stapes ankylosis","HP:0000381"]
["Abnormality of periauricular region","HP:0000383"]
["Preauricular skin tag","HP:0000384"]
["Small earlobe","HP:0000385"]
["Absent earlobe","HP:0000387"]
["Otitis media","HP:0000388"]
["Chronic otitis media","HP:0000389"]
["Thickened helices","HP:0000391"]
["Lop ear","HP:0000394"]
["Prominent antihelix","HP:0000395"]
["Overfolded helix","HP:0000396"]
["Prelingual sensorineural hearing impairment","HP:0000399"]
["Macrotia","HP:0000400"]
["Stenosis of the external auditory canal","HP:0000402"]
["Recurrent otitis media","HP:0000403"]
["Conductive hearing impairment","HP:0000405"]
["Sensorineural hearing impairment","HP:0000407"]
["Progressive sensorineural hearing impairment","HP:0000408"]
["Mixed hearing impairment","HP:0000410"]
["Protruding ear","HP:0000411"]
["Atresia of the external auditory canal","HP:0000413"]
["Bulbous nose","HP:0000414"]
["Abnormality of the choanae","HP:0000415"]
["Slender nose","HP:0000417"]
["Narrow nasal ridge","HP:0000418"]
["Abnormality of the nasal septum","HP:0000419"]
["Short nasal septum","HP:0000420"]
["Epistaxis","HP:0000421"]
["Abnormal nasal bridge morphology","HP:0000422"]
["Prominent nasal bridge","HP:0000426"]
["Abnormality of the nasal alae","HP:0000429"]
["Underdeveloped nasal alae","HP:0000430"]
["Wide nasal bridge","HP:0000431"]
["Abnormal nasal mucosa morphology","HP:0000433"]
["Nasal mucosa telangiectasia","HP:0000434"]
["Abnormality of the nasal tip","HP:0000436"]
["Depressed nasal tip","HP:0000437"]
["Convex nasal ridge","HP:0000444"]
["Wide nose","HP:0000445"]
["Narrow nasal bridge","HP:0000446"]
["Pear-shaped nose","HP:0000447"]
["Prominent nose","HP:0000448"]
["Triangular nasal tip","HP:0000451"]
["Choanal stenosis","HP:0000452"]
["Choanal atresia","HP:0000453"]
["Flared nostrils","HP:0000454"]
["Broad nasal tip","HP:0000455"]
["Bifid nasal tip","HP:0000456"]
["Depressed nasal ridge","HP:0000457"]
["Anosmia","HP:0000458"]
["Narrow nose","HP:0000460"]
["Anteverted nares","HP:0000463"]
["Abnormality of the neck","HP:0000464"]
["Webbed neck","HP:0000465"]
["Limited neck range of motion","HP:0000466"]
["Neck muscle weakness","HP:0000467"]
["Increased adipose tissue around the neck","HP:0000468"]
["Short neck","HP:0000470"]
["Gastrointestinal angiodysplasia","HP:0000471"]
["Long neck","HP:0000472"]
["Torticollis","HP:0000473"]
["Thickened nuchal skin fold","HP:0000474"]
["Broad neck","HP:0000475"]
["Cystic hygroma","HP:0000476"]
["Abnormality of the eye","HP:0000478"]
["Abnormal retinal morphology","HP:0000479"]
["Retinal coloboma","HP:0000480"]
["Abnormal cornea morphology","HP:0000481"]
["Microcornea","HP:0000482"]
["Astigmatism","HP:0000483"]
["Hyperopic astigmatism","HP:0000484"]
["Megalocornea","HP:0000485"]
["Strabismus","HP:0000486"]
["obsolete Congenital strabismus","HP:0000487"]
["Retinopathy","HP:0000488"]
["obsolete Abnormality of globe location or size","HP:0000489"]
["Deeply set eye","HP:0000490"]
["Keratitis","HP:0000491"]
["Abnormal eyelid morphology","HP:0000492"]
["Abnormal foveal morphology","HP:0000493"]
["Downslanted palpebral fissures","HP:0000494"]
["Recurrent corneal erosions","HP:0000495"]
["Abnormality of eye movement","HP:0000496"]
["Globe retraction and deviation on abduction","HP:0000497"]
["Blepharitis","HP:0000498"]
["Abnormal eyelash morphology","HP:0000499"]
["Glaucoma","HP:0000501"]
["Abnormal conjunctiva morphology","HP:0000502"]
["Tortuosity of conjunctival vessels","HP:0000503"]
["Abnormality of vision","HP:0000504"]
["Visual impairment","HP:0000505"]
["Telecanthus","HP:0000506"]
["Ptosis","HP:0000508"]
["Conjunctivitis","HP:0000509"]
["Rod-cone dystrophy","HP:0000510"]
["Vertical supranuclear gaze palsy","HP:0000511"]
["Abnormal electroretinogram","HP:0000512"]
["Slow saccadic eye movements","HP:0000514"]
["Abnormality of the lens","HP:0000517"]
["Cataract","HP:0000518"]
["Developmental cataract","HP:0000519"]
["Proptosis","HP:0000520"]
["Alacrima","HP:0000522"]
["Subcapsular cataract","HP:0000523"]
["Conjunctival telangiectasia","HP:0000524"]
["Abnormality iris morphology","HP:0000525"]
["Aniridia","HP:0000526"]
["Long eyelashes","HP:0000527"]
["Anophthalmia","HP:0000528"]
["Progressive visual loss","HP:0000529"]
["Corneal crystals","HP:0000531"]
["Abnormal chorioretinal morphology","HP:0000532"]
["Chorioretinal atrophy","HP:0000533"]
["Abnormal eyebrow morphology","HP:0000534"]
["Sparse and thin eyebrow","HP:0000535"]
["Epicanthus inversus","HP:0000537"]
["Pseudopapilledema","HP:0000538"]
["Abnormality of refraction","HP:0000539"]
["Hypermetropia","HP:0000540"]
["Retinal detachment","HP:0000541"]
["Impaired ocular adduction","HP:0000542"]
["Optic disc pallor","HP:0000543"]
["External ophthalmoplegia","HP:0000544"]
["Myopia","HP:0000545"]
["Retinal degeneration","HP:0000546"]
["obsolete Tapetoretinal degeneration","HP:0000547"]
["Cone/cone-rod dystrophy","HP:0000548"]
["Abnormal conjugate eye movement","HP:0000549"]
["Undetectable electroretinogram","HP:0000550"]
["Color vision defect","HP:0000551"]
["Tritanomaly","HP:0000552"]
["Abnormal uvea morphology","HP:0000553"]
["Uveitis","HP:0000554"]
["Leukocoria","HP:0000555"]
["Retinal dystrophy","HP:0000556"]
["Buphthalmos","HP:0000557"]
["Rieger anomaly","HP:0000558"]
["Corneal scarring","HP:0000559"]
["Absent eyelashes","HP:0000561"]
["Keratoconus","HP:0000563"]
["Lacrimal duct atresia","HP:0000564"]
["Esotropia","HP:0000565"]
["Chorioretinal coloboma","HP:0000567"]
["Microphthalmia","HP:0000568"]
["Abnormal saccadic eye movements","HP:0000570"]
["Hypometric saccades","HP:0000571"]
["Visual loss","HP:0000572"]
["Retinal hemorrhage","HP:0000573"]
["Thick eyebrow","HP:0000574"]
["Scotoma","HP:0000575"]
["Centrocecal scotoma","HP:0000576"]
["Exotropia","HP:0000577"]
["Nasolacrimal duct obstruction","HP:0000579"]
["Pigmentary retinopathy","HP:0000580"]
["Blepharophimosis","HP:0000581"]
["Upslanted palpebral fissure","HP:0000582"]
["Punctate corneal epithelial erosions","HP:0000584"]
["Band keratopathy","HP:0000585"]
["Shallow orbits","HP:0000586"]
["Abnormality of the optic nerve","HP:0000587"]
["Optic disc coloboma","HP:0000588"]
["Coloboma","HP:0000589"]
["Progressive external ophthalmoplegia","HP:0000590"]
["Abnormal sclera morphology","HP:0000591"]
["Blue sclerae","HP:0000592"]
["Abnormal anterior chamber morphology","HP:0000593"]
["Shallow anterior chamber","HP:0000594"]
["Ophthalmoparesis","HP:0000597"]
["Abnormality of the ear","HP:0000598"]
["Abnormality of the frontal hairline","HP:0000599"]
["Abnormality of the pharynx","HP:0000600"]
["Hypotelorism","HP:0000601"]
["Ophthalmoplegia","HP:0000602"]
["Central scotoma","HP:0000603"]
["Supranuclear gaze palsy","HP:0000605"]
["Abnormality of the periorbital region","HP:0000606"]
["Periorbital wrinkles","HP:0000607"]
["Macular degeneration","HP:0000608"]
["Optic nerve hypoplasia","HP:0000609"]
["Abnormal choroid morphology","HP:0000610"]
["obsolete Choroid coloboma","HP:0000611"]
["Iris coloboma","HP:0000612"]
["Photophobia","HP:0000613"]
["Abnormal nasolacrimal system morphology","HP:0000614"]
["Abnormal pupil morphology","HP:0000615"]
["Miosis","HP:0000616"]
["Abnormality of ocular smooth pursuit","HP:0000617"]
["Blindness","HP:0000618"]
["Impaired convergence","HP:0000619"]
["Dacryocystitis","HP:0000620"]
["Entropion","HP:0000621"]
["Blurred vision","HP:0000622"]
["Supranuclear ophthalmoplegia","HP:0000623"]
["Eyelid coloboma","HP:0000625"]
["Posterior embryotoxon","HP:0000627"]
["Periorbital fullness","HP:0000629"]
["Abnormal retinal artery morphology","HP:0000630"]
["Retinal arterial tortuosity","HP:0000631"]
["Lacrimation abnormality","HP:0000632"]
["Decreased lacrimation","HP:0000633"]
["Impaired ocular abduction","HP:0000634"]
["Blue irides","HP:0000635"]
["Upper eyelid coloboma","HP:0000636"]
["Long palpebral fissure","HP:0000637"]
["Nystagmus","HP:0000639"]
["Gaze-evoked nystagmus","HP:0000640"]
["Dysmetric saccades","HP:0000641"]
["Red-green dyschromatopsia","HP:0000642"]
["Blepharospasm","HP:0000643"]
["Amblyopia","HP:0000646"]
["Sclerocornea","HP:0000647"]
["Optic atrophy","HP:0000648"]
["Abnormality of visual evoked potentials","HP:0000649"]
["Abnormal amplitude of pattern reversal visual evoked potentials","HP:0000650"]
["Diplopia","HP:0000651"]
["Lower eyelid coloboma","HP:0000652"]
["Sparse eyelashes","HP:0000653"]
["Decreased light- and dark-adapted electroretinogram amplitude","HP:0000654"]
["obsolete Vitreoretinal degeneration","HP:0000655"]
["Ectropion","HP:0000656"]
["Oculomotor apraxia","HP:0000657"]
["Eyelid apraxia","HP:0000658"]
["Peters anomaly","HP:0000659"]
["Lipemia retinalis","HP:0000660"]
["Palpebral fissure narrowing on adduction","HP:0000661"]
["Nyctalopia","HP:0000662"]
["Synophrys","HP:0000664"]
["Horizontal nystagmus","HP:0000666"]
["Phthisis bulbi","HP:0000667"]
["Hypodontia","HP:0000668"]
["Carious teeth","HP:0000670"]
["Anodontia","HP:0000674"]
["Macrodontia of permanent maxillary central incisor","HP:0000675"]
["Abnormality of the incisor","HP:0000676"]
["Oligodontia","HP:0000677"]
["Dental crowding","HP:0000678"]
["Taurodontia","HP:0000679"]
["Delayed eruption of primary teeth","HP:0000680"]
["Abnormal dental enamel morphology","HP:0000682"]
["Grayish enamel","HP:0000683"]
["Delayed eruption of teeth","HP:0000684"]
["Hypoplasia of teeth","HP:0000685"]
["Widely spaced teeth","HP:0000687"]
["Dental malocclusion","HP:0000689"]
["Agenesis of maxillary lateral incisor","HP:0000690"]
["Microdontia","HP:0000691"]
["Tooth malposition","HP:0000692"]
["Odontodysplasia","HP:0000694"]
["Natal tooth","HP:0000695"]
["Delayed eruption of permanent teeth","HP:0000696"]
["Conical tooth","HP:0000698"]
["Diastema","HP:0000699"]
["Periapical bone loss","HP:0000700"]
["Dentinogenesis imperfecta","HP:0000703"]
["Periodontitis","HP:0000704"]
["Amelogenesis imperfecta","HP:0000705"]
["Eruption failure","HP:0000706"]
["Abnormality of the nervous system","HP:0000707"]
["Behavioral abnormality","HP:0000708"]
["Psychosis","HP:0000709"]
["Hyperorality","HP:0000710"]
["Restlessness","HP:0000711"]
["Emotional lability","HP:0000712"]
["Agitation","HP:0000713"]
["Depression","HP:0000716"]
["Autism","HP:0000717"]
["Aggressive behavior","HP:0000718"]
["Inappropriate behavior","HP:0000719"]
["Mood swings","HP:0000720"]
["Lack of spontaneous play","HP:0000721"]
["Obsessive-compulsive behavior","HP:0000722"]
["Restrictive behavior","HP:0000723"]
["Psychotic episodes","HP:0000725"]
["Dementia","HP:0000726"]
["Frontal lobe dementia","HP:0000727"]
["Impaired ability to form peer relationships","HP:0000728"]
["Autistic behavior","HP:0000729"]
["Inflexible adherence to routines or rituals","HP:0000732"]
["Stereotypy","HP:0000733"]
["Disinhibition","HP:0000734"]
["Impaired social interactions","HP:0000735"]
["Short attention span","HP:0000736"]
["Irritability","HP:0000737"]
["Hallucinations","HP:0000738"]
["Anxiety","HP:0000739"]
["Episodic paroxysmal anxiety","HP:0000740"]
["Apathy","HP:0000741"]
["Self-mutilation","HP:0000742"]
["Frontal release signs","HP:0000743"]
["Low frustration tolerance","HP:0000744"]
["Diminished motivation","HP:0000745"]
["Delusions","HP:0000746"]
["Inappropriate laughter","HP:0000748"]
["Paroxysmal bursts of laughter","HP:0000749"]
["Delayed speech and language development","HP:0000750"]
["Personality changes","HP:0000751"]
["Hyperactivity","HP:0000752"]
["Autism with high cognitive abilities","HP:0000753"]
["Agoraphobia","HP:0000756"]
["Lack of insight","HP:0000757"]
["Impaired use of nonverbal behaviors","HP:0000758"]
["Abnormal peripheral nervous system morphology","HP:0000759"]
["Decreased nerve conduction velocity","HP:0000762"]
["Sensory neuropathy","HP:0000763"]
["Peripheral axonal degeneration","HP:0000764"]
["Abnormal thorax morphology","HP:0000765"]
["Abnormal sternum morphology","HP:0000766"]
["Pectus excavatum","HP:0000767"]
["Pectus carinatum","HP:0000768"]
["Abnormality of the breast","HP:0000769"]
["Gynecomastia","HP:0000771"]
["Abnormality of the ribs","HP:0000772"]
["Short ribs","HP:0000773"]
["Narrow chest","HP:0000774"]
["Abnormality of the diaphragm","HP:0000775"]
["Congenital diaphragmatic hernia","HP:0000776"]
["Abnormality of the thymus","HP:0000777"]
["Hypoplasia of the thymus","HP:0000778"]
["Abnormal scapula morphology","HP:0000782"]
["Primary amenorrhea","HP:0000786"]
["Nephrolithiasis","HP:0000787"]
["Infertility","HP:0000789"]
["Hematuria","HP:0000790"]
["Uric acid nephrolithiasis","HP:0000791"]
["Membranoproliferative glomerulonephritis","HP:0000793"]
["IgA deposition in the glomerulus","HP:0000794"]
["Abnormality of the urethra","HP:0000795"]
["Urethral obstruction","HP:0000796"]
["Oligospermia","HP:0000798"]
["Renal steatosis","HP:0000799"]
["Cystic renal dysplasia","HP:0000800"]
["Impotence","HP:0000802"]
["Renal cortical cysts","HP:0000803"]
["Xanthine nephrolithiasis","HP:0000804"]
["Enuresis","HP:0000805"]
["Glandular hypospadias","HP:0000807"]
["Penoscrotal hypospadias","HP:0000808"]
["Urinary tract atresia","HP:0000809"]
["Abnormal external genitalia","HP:0000811"]
["Abnormal internal genitalia","HP:0000812"]
["Bicornuate uterus","HP:0000813"]
["Hypergonadotropic hypogonadism","HP:0000815"]
["Abnormality of Krebs cycle metabolism","HP:0000816"]
["Poor eye contact","HP:0000817"]
["Abnormality of the endocrine system","HP:0000818"]
["Diabetes mellitus","HP:0000819"]
["Abnormality of the thyroid gland","HP:0000820"]
["Hypothyroidism","HP:0000821"]
["Hypertension","HP:0000822"]
["Delayed puberty","HP:0000823"]
["Decreased response to growth hormone stimuation test","HP:0000824"]
["Hyperinsulinemic hypoglycemia","HP:0000825"]
["Precocious puberty","HP:0000826"]
["Abnormality of the parathyroid gland","HP:0000828"]
["Hypoparathyroidism","HP:0000829"]
["Anterior hypopituitarism","HP:0000830"]
["Insulin-resistant diabetes mellitus","HP:0000831"]
["Primary hypothyroidism","HP:0000832"]
["obsolete Glucose intolerance","HP:0000833"]
["Abnormality of the adrenal glands","HP:0000834"]
["Adrenal hypoplasia","HP:0000835"]
["Hyperthyroidism","HP:0000836"]
["Increased circulating gonadotropin level","HP:0000837"]
["Pituitary dwarfism","HP:0000839"]
["Adrenogenital syndrome","HP:0000840"]
["Hyperactive renin-angiotensin system","HP:0000841"]
["Hyperinsulinemia","HP:0000842"]
["Hyperparathyroidism","HP:0000843"]
["Elevated circulating growth hormone concentration","HP:0000845"]
["Adrenal insufficiency","HP:0000846"]
["Abnormality of renin-angiotensin system","HP:0000847"]
["Increased circulating renin level","HP:0000848"]
["Adrenocortical abnormality","HP:0000849"]
["Congenital hypothyroidism","HP:0000851"]
["Pseudohypoparathyroidism","HP:0000852"]
["Goiter","HP:0000853"]
["Thyroid adenoma","HP:0000854"]
["Insulin resistance","HP:0000855"]
["Neonatal insulin-dependent diabetes mellitus","HP:0000857"]
["Irregular menstruation","HP:0000858"]
["Hyperaldosteronism","HP:0000859"]
["Parathyroid hypoplasia","HP:0000860"]
["Central diabetes insipidus","HP:0000863"]
["Abnormality of the hypothalamus-pituitary axis","HP:0000864"]
["Euthyroid multinodular goiter","HP:0000866"]
["Secondary hyperparathyroidism","HP:0000867"]
["Decreased fertility in females","HP:0000868"]
["Secondary amenorrhea","HP:0000869"]
["Increased circulating prolactin concentration","HP:0000870"]
["Panhypopituitarism","HP:0000871"]
["Hashimoto thyroiditis","HP:0000872"]
["Diabetes insipidus","HP:0000873"]
["Episodic hypertension","HP:0000875"]
["Oligomenorrhea","HP:0000876"]
["Insulin-resistant diabetes mellitus at puberty","HP:0000877"]
["11 pairs of ribs","HP:0000878"]
["Short sternum","HP:0000879"]
["Hypoplastic scapulae","HP:0000882"]
["Thin ribs","HP:0000883"]
["Prominent sternum","HP:0000884"]
["Broad ribs","HP:0000885"]
["Deformed rib cage","HP:0000886"]
["Cupped ribs","HP:0000887"]
["Horizontal ribs","HP:0000888"]
["Abnormal clavicle morphology","HP:0000889"]
["Long clavicles","HP:0000890"]
["Cervical ribs","HP:0000891"]
["Bifid ribs","HP:0000892"]
["Bulging of the costochondral junction","HP:0000893"]
["Short clavicles","HP:0000894"]
["Lateral clavicle hook","HP:0000895"]
["Rib exostoses","HP:0000896"]
["Rachitic rosary","HP:0000897"]
["Thickened ribs","HP:0000900"]
["Rib fusion","HP:0000902"]
["Flaring of rib cage","HP:0000904"]
["Progressive clavicular acroosteolysis","HP:0000905"]
["Anterior rib cupping","HP:0000907"]
["Wide-cupped costochondral junctions","HP:0000910"]
["Flat glenoid fossa","HP:0000911"]
["Sprengel anomaly","HP:0000912"]
["Posterior rib fusion","HP:0000913"]
["Shield chest","HP:0000914"]
["Pectus excavatum of inferior sternum","HP:0000915"]
["Broad clavicles","HP:0000916"]
["Superior pectus carinatum","HP:0000917"]
["Scapular exostoses","HP:0000918"]
["Abnormality of the costochondral junction","HP:0000919"]
["Enlargement of the costochondral junction","HP:0000920"]
["Missing ribs","HP:0000921"]
["Posterior rib cupping","HP:0000922"]
["Beaded ribs","HP:0000923"]
["Abnormality of the skeletal system","HP:0000924"]
["Abnormality of the vertebral column","HP:0000925"]
["Platyspondyly","HP:0000926"]
["Abnormality of skeletal maturation","HP:0000927"]
["Abnormal skull morphology","HP:0000929"]
["Elevated imprint of the transverse sinuses","HP:0000930"]
["Thinning and bulging of the posterior fossa bones","HP:0000931"]
["Abnormal posterior cranial fossa morphology","HP:0000932"]
["Posterior fossa cyst at the fourth ventricle","HP:0000933"]
["Chondrocalcinosis","HP:0000934"]
["Thickened cortex of long bones","HP:0000935"]
["Osteopenia","HP:0000938"]
["Osteoporosis","HP:0000939"]
["Abnormal diaphysis morphology","HP:0000940"]
["Short diaphyses","HP:0000941"]
["Dysostosis multiplex","HP:0000943"]
["Abnormality of the metaphysis","HP:0000944"]
["Hypoplastic ilia","HP:0000946"]
["Dumbbell-shaped long bone","HP:0000947"]
["Abnormality of the skin","HP:0000951"]
["Jaundice","HP:0000952"]
["Hyperpigmentation of the skin","HP:0000953"]
["Single transverse palmar crease","HP:0000954"]
["Acanthosis nigricans","HP:0000956"]
["Cafe-au-lait spot","HP:0000957"]
["Dry skin","HP:0000958"]
["Sacral dimple","HP:0000960"]
["Cyanosis","HP:0000961"]
["Hyperkeratosis","HP:0000962"]
["Thin skin","HP:0000963"]
["Eczema","HP:0000964"]
["Cutis marmorata","HP:0000965"]
["Hypohidrosis","HP:0000966"]
["Petechiae","HP:0000967"]
["Ectodermal dysplasia","HP:0000968"]
["Edema","HP:0000969"]
["Anhidrosis","HP:0000970"]
["Abnormal sweat gland morphology","HP:0000971"]
["Palmoplantar hyperkeratosis","HP:0000972"]
["Cutis laxa","HP:0000973"]
["Hyperextensible skin","HP:0000974"]
["Hyperhidrosis","HP:0000975"]
["Eczematoid dermatitis","HP:0000976"]
["Soft skin","HP:0000977"]
["Bruising susceptibility","HP:0000978"]
["Purpura","HP:0000979"]
["Pallor","HP:0000980"]
["Palmoplantar keratoderma","HP:0000982"]
["Atypical scarring of skin","HP:0000987"]
["Skin rash","HP:0000988"]
["Pruritus","HP:0000989"]
["Xanthomatosis","HP:0000991"]
["Cutaneous photosensitivity","HP:0000992"]
["Molluscoid pseudotumors","HP:0000993"]
["Melanocytic nevus","HP:0000995"]
["Facial capillary hemangioma","HP:0000996"]
["Axillary freckling","HP:0000997"]
["Hypertrichosis","HP:0000998"]
["Pyoderma","HP:0000999"]
["Abnormality of skin pigmentation","HP:0001000"]
["Abnormality of subcutaneous fat tissue","HP:0001001"]
["obsolete Decreased subcutaneous fat","HP:0001002"]
["Multiple lentigines","HP:0001003"]
["Lymphedema","HP:0001004"]
["Dermatological manifestations of systemic disorders","HP:0001005"]
["obsolete Hypotrichosis","HP:0001006"]
["Hirsutism","HP:0001007"]
["Accumulation of melanosomes in melanocytes","HP:0001008"]
["Telangiectasia","HP:0001009"]
["Hypopigmentation of the skin","HP:0001010"]
["obsolete Diaphoresis (with pheochromocytoma)","HP:0001011"]
["Multiple lipomas","HP:0001012"]
["Eruptive xanthomas","HP:0001013"]
["Angiokeratoma","HP:0001014"]
["Prominent superficial veins","HP:0001015"]
["Anemic pallor","HP:0001017"]
["Abnormal palmar dermatoglyphics","HP:0001018"]
["Erythroderma","HP:0001019"]
["Albinism","HP:0001022"]
["Skin dimple over apex of long bone angulation","HP:0001024"]
["Urticaria","HP:0001025"]
["Penetrating foot ulcers","HP:0001026"]
["Soft, doughy skin","HP:0001027"]
["Hemangioma","HP:0001028"]
["Poikiloderma","HP:0001029"]
["Fragile skin","HP:0001030"]
["Subcutaneous lipoma","HP:0001031"]
["Absent distal interphalangeal creases","HP:0001032"]
["Facial flushing after alcohol intake","HP:0001033"]
["Hypermelanotic macule","HP:0001034"]
["Parakeratosis","HP:0001036"]
["Warfarin-induced skin necrosis","HP:0001038"]
["Atheroeruptive xanthoma","HP:0001039"]
["Multiple pterygia","HP:0001040"]
["Facial erythema","HP:0001041"]
["High axial triradius","HP:0001042"]
["Prominent scalp veins","HP:0001043"]
["Vitiligo","HP:0001045"]
["Intermittent jaundice","HP:0001046"]
["Atopic dermatitis","HP:0001047"]
["Cavernous hemangioma","HP:0001048"]
["Absent dorsal skin creases over affected joints","HP:0001049"]
["Plethora","HP:0001050"]
["Seborrheic dermatitis","HP:0001051"]
["Nevus flammeus","HP:0001052"]
["Hypopigmented skin patches","HP:0001053"]
["Numerous nevi","HP:0001054"]
["Erysipelas","HP:0001055"]
["Milia","HP:0001056"]
["Aplasia cutis congenita","HP:0001057"]
["Poor wound healing","HP:0001058"]
["Pterygium","HP:0001059"]
["Axillary pterygium","HP:0001060"]
["Acne","HP:0001061"]
["Atypical nevus","HP:0001062"]
["Acrocyanosis","HP:0001063"]
["Striae distensae","HP:0001065"]
["Neurofibromas","HP:0001067"]
["Episodic hyperhidrosis","HP:0001069"]
["Mottled pigmentation","HP:0001070"]
["Angiokeratoma corporis diffusum","HP:0001071"]
["Thickened skin","HP:0001072"]
["Cigarette-paper scars","HP:0001073"]
["Atypical nevi in non-sun exposed areas","HP:0001074"]
["Atrophic scars","HP:0001075"]
["Glabellar hemangioma","HP:0001076"]
["Biliary tract abnormality","HP:0001080"]
["Cholelithiasis","HP:0001081"]
["Cholecystitis","HP:0001082"]
["Ectopia lentis","HP:0001083"]
["Corneal arcus","HP:0001084"]
["Papilledema","HP:0001085"]
["Developmental glaucoma","HP:0001087"]
["Brushfield spots","HP:0001088"]
["Iris atrophy","HP:0001089"]
["Abnormally large globe","HP:0001090"]
["Absent lacrimal punctum","HP:0001092"]
["Optic nerve dysplasia","HP:0001093"]
["Iridocyclitis","HP:0001094"]
["Hypertensive retinopathy","HP:0001095"]
["Keratoconjunctivitis","HP:0001096"]
["Keratoconjunctivitis sicca","HP:0001097"]
["Abnormal fundus morphology","HP:0001098"]
["Fundus atrophy","HP:0001099"]
["Heterochromia iridis","HP:0001100"]
["Iritis","HP:0001101"]
["Angioid streaks of the fundus","HP:0001102"]
["Abnormal macular morphology","HP:0001103"]
["Macular hypoplasia","HP:0001104"]
["Retinal atrophy","HP:0001105"]
["Periorbital hyperpigmentation","HP:0001106"]
["Ocular albinism","HP:0001107"]
["Leber optic atrophy","HP:0001112"]
["obsolete Early cataracts","HP:0001113"]
["Xanthelasma","HP:0001114"]
["Posterior polar cataract","HP:0001115"]
["Macular coloboma","HP:0001116"]
["Sudden loss of visual acuity","HP:0001117"]
["Juvenile cataract","HP:0001118"]
["Keratoglobus","HP:0001119"]
["Abnormality of corneal size","HP:0001120"]
["obsolete Aplasia/Hypoplasia of the choroid","HP:0001122"]
["Visual field defect","HP:0001123"]
["Transient unilateral blurring of vision","HP:0001125"]
["Cryptophthalmos","HP:0001126"]
["Trichiasis","HP:0001128"]
["Large central visual field defect","HP:0001129"]
["Corneal dystrophy","HP:0001131"]
["Lens subluxation","HP:0001132"]
["Constriction of peripheral visual field","HP:0001133"]
["Anterior polar cataract","HP:0001134"]
["Chorioretinal dystrophy","HP:0001135"]
["Retinal arteriolar tortuosity","HP:0001136"]
["Alternating esotropia","HP:0001137"]
["Optic neuropathy","HP:0001138"]
["Choroideremia","HP:0001139"]
["Limbal dermoid","HP:0001140"]
["Severely reduced visual acuity","HP:0001141"]
["Lenticonus","HP:0001142"]
["Orbital cyst","HP:0001144"]
["obsolete Chorioretinopathy","HP:0001145"]
["obsolete Pigmentary retinal degeneration","HP:0001146"]
["Retinal exudate","HP:0001147"]
["Lattice corneal dystrophy","HP:0001149"]
["obsolete Choroidal sclerosis","HP:0001150"]
["Impaired horizontal smooth pursuit","HP:0001151"]
["Saccadic smooth pursuit","HP:0001152"]
["Septate vagina","HP:0001153"]
["Abnormality of the hand","HP:0001155"]
["Brachydactyly","HP:0001156"]
["Syndactyly","HP:0001159"]
["Hand polydactyly","HP:0001161"]
["Postaxial hand polydactyly","HP:0001162"]
["Abnormality of the metacarpal bones","HP:0001163"]
["Arachnodactyly","HP:0001166"]
["Abnormality of finger","HP:0001167"]
["Broad palm","HP:0001169"]
["Split hand","HP:0001171"]
["Abnormal thumb morphology","HP:0001172"]
["Large hands","HP:0001176"]
["Preaxial hand polydactyly","HP:0001177"]
["Ulnar claw","HP:0001178"]
["Hand oligodactyly","HP:0001180"]
["Adducted thumb","HP:0001181"]
["Tapered finger","HP:0001182"]
["Hyperextensibility of the finger joints","HP:0001187"]
["Hand clenching","HP:0001188"]
["Abnormality of the carpal bones","HP:0001191"]
["Ulnar deviation of the hand or of fingers of the hand","HP:0001193"]
["Abnormalities of placenta or umbilical cord","HP:0001194"]
["Single umbilical artery","HP:0001195"]
["Short umbilical cord","HP:0001196"]
["Abnormality of prenatal development or birth","HP:0001197"]
["Triphalangeal thumb","HP:0001199"]
["Distal symphalangism of hands","HP:0001204"]
["Abnormal fingertip morphology","HP:0001211"]
["Prominent fingertip pads","HP:0001212"]
["Camptodactyly of 2nd-5th fingers","HP:0001215"]
["Delayed ossification of carpal bones","HP:0001216"]
["Clubbing","HP:0001217"]
["Autoamputation","HP:0001218"]
["Interphalangeal joint contracture of finger","HP:0001220"]
["Spatulate thumbs","HP:0001222"]
["Pointed proximal second through fifth metacarpals","HP:0001223"]
["Wrist swelling","HP:0001225"]
["obsolete Acral ulceration and osteomyelitis leading to autoamputation of digits","HP:0001226"]
["Abnormality of the thenar eminence","HP:0001227"]
["Broad metacarpals","HP:0001230"]
["Abnormal fingernail morphology","HP:0001231"]
["Nail bed telangiectasia","HP:0001232"]
["2-3 finger syndactyly","HP:0001233"]
["Hitchhiker thumb","HP:0001234"]
["Slender finger","HP:0001238"]
["Wrist flexion contracture","HP:0001239"]
["Capitate-hamate fusion","HP:0001241"]
["Small thenar eminence","HP:0001245"]
["Short tubular bones of the hand","HP:0001248"]
["Intellectual disability","HP:0001249"]
["Seizure","HP:0001250"]
["Ataxia","HP:0001251"]
["Hypotonia","HP:0001252"]
["Lethargy","HP:0001254"]
["Intellectual disability, mild","HP:0001256"]
["Spasticity","HP:0001257"]
["Spastic paraplegia","HP:0001258"]
["Coma","HP:0001259"]
["Dysarthria","HP:0001260"]
["Excessive daytime somnolence","HP:0001262"]
["Global developmental delay","HP:0001263"]
["Spastic diplegia","HP:0001264"]
["Hyporeflexia","HP:0001265"]
["Choreoathetosis","HP:0001266"]
["Mental deterioration","HP:0001268"]
["Hemiparesis","HP:0001269"]
["Motor delay","HP:0001270"]
["Polyneuropathy","HP:0001271"]
["Cerebellar atrophy","HP:0001272"]
["Abnormal corpus callosum morphology","HP:0001273"]
["Agenesis of corpus callosum","HP:0001274"]
["Hypertonia","HP:0001276"]
["Orthostatic hypotension","HP:0001278"]
["Syncope","HP:0001279"]
["Tetany","HP:0001281"]
["Bulbar palsy","HP:0001283"]
["Areflexia","HP:0001284"]
["Spastic tetraparesis","HP:0001285"]
["Meningitis","HP:0001287"]
["Gait disturbance","HP:0001288"]
["Confusion","HP:0001289"]
["Generalized hypotonia","HP:0001290"]
["Abnormal cranial nerve morphology","HP:0001291"]
["Cranial nerve compression","HP:0001293"]
["Stroke","HP:0001297"]
["Encephalopathy","HP:0001298"]
["Parkinsonism","HP:0001300"]
["Chronic sensorineural polyneuropathy","HP:0001301"]
["Pachygyria","HP:0001302"]
["Torsion dystonia","HP:0001304"]
["Dandy-Walker malformation","HP:0001305"]
["Tongue fasciculations","HP:0001308"]
["Dysmetria","HP:0001310"]
["Abnormal nervous system electrophysiology","HP:0001311"]
["Giant somatosensory evoked potentials","HP:0001312"]
["Reduced tendon reflexes","HP:0001315"]
["Abnormal cerebellum morphology","HP:0001317"]
["Neonatal hypotonia","HP:0001319"]
["Cerebellar vermis hypoplasia","HP:0001320"]
["Cerebellar hypoplasia","HP:0001321"]
["obsolete Brain very small","HP:0001322"]
["Muscle weakness","HP:0001324"]
["Hypoglycemic coma","HP:0001325"]
["EEG with irregular generalized spike and wave complexes","HP:0001326"]
["Photosensitive myoclonic seizure","HP:0001327"]
["Specific learning disability","HP:0001328"]
["Absent septum pellucidum","HP:0001331"]
["Dystonia","HP:0001332"]
["Communicating hydrocephalus","HP:0001334"]
["Bimanual synkinesia","HP:0001335"]
["Myoclonus","HP:0001336"]
["Tremor","HP:0001337"]
["Partial agenesis of the corpus callosum","HP:0001338"]
["Lissencephaly","HP:0001339"]
["Enhancement of the C-reflex","HP:0001340"]
["Olfactory lobe agenesis","HP:0001341"]
["Cerebral hemorrhage","HP:0001342"]
["Kernicterus","HP:0001343"]
["Absent speech","HP:0001344"]
["Psychotic mentation","HP:0001345"]
["Hyperreflexia","HP:0001347"]
["Brisk reflexes","HP:0001348"]
["Facial diplegia","HP:0001349"]
["Slurred speech","HP:0001350"]
["Jerk-locked premyoclonus spikes","HP:0001351"]
["Megalencephaly","HP:0001355"]
["Plagiocephaly","HP:0001357"]
["Holoprosencephaly","HP:0001360"]
["Nystagmus-induced head nodding","HP:0001361"]
["Calvarial skull defect","HP:0001362"]
["Craniosynostosis","HP:0001363"]
["Abnormal joint morphology","HP:0001367"]
["Arthritis","HP:0001369"]
["Rheumatoid arthritis","HP:0001370"]
["Flexion contracture","HP:0001371"]
["Joint dislocation","HP:0001373"]
["Congenital hip dislocation","HP:0001374"]
["Limitation of joint mobility","HP:0001376"]
["Limited elbow extension","HP:0001377"]
["obsolete Degenerative joint disease","HP:0001379"]
["obsolete Ligamentous laxity","HP:0001380"]
["Joint hypermobility","HP:0001382"]
["Abnormal hip joint morphology","HP:0001384"]
["Hip dysplasia","HP:0001385"]
["Joint swelling","HP:0001386"]
["Joint stiffness","HP:0001387"]
["Joint laxity","HP:0001388"]
["Abnormality of the liver","HP:0001392"]
["Cirrhosis","HP:0001394"]
["Hepatic fibrosis","HP:0001395"]
["Cholestasis","HP:0001396"]
["Hepatic steatosis","HP:0001397"]
["Hepatic failure","HP:0001399"]
["obsolete Hepatic abscesses due to immunodeficiency","HP:0001400"]
["Intrahepatic biliary dysgenesis","HP:0001401"]
["Hepatocellular carcinoma","HP:0001402"]
["Macrovesicular hepatic steatosis","HP:0001403"]
["Hepatocellular necrosis","HP:0001404"]
["Periportal fibrosis","HP:0001405"]
["Intrahepatic cholestasis","HP:0001406"]
["Hepatic cysts","HP:0001407"]
["Bile duct proliferation","HP:0001408"]
["Portal hypertension","HP:0001409"]
["Decreased liver function","HP:0001410"]
["Enteroviral hepatitis","HP:0001412"]
["Micronodular cirrhosis","HP:0001413"]
["Microvesicular hepatic steatosis","HP:0001414"]
["X-linked inheritance","HP:0001417"]
["X-linked recessive inheritance","HP:0001419"]
["Abnormality of the musculature of the hand","HP:0001421"]
["X-linked dominant inheritance","HP:0001423"]
["Heterogeneous","HP:0001425"]
["Multifactorial inheritance","HP:0001426"]
["Mitochondrial inheritance","HP:0001427"]
["Somatic mutation","HP:0001428"]
["Abnormality of the calf musculature","HP:0001430"]
["Hepatosplenomegaly","HP:0001433"]
["Abnormality of the shoulder girdle musculature","HP:0001435"]
["Abnormality of the foot musculature","HP:0001436"]
["Abnormality of the musculature of the lower limbs","HP:0001437"]
["Abnormal abdomen morphology","HP:0001438"]
["Metatarsal synostosis","HP:0001440"]
["Abnormality of the musculature of the thigh","HP:0001441"]
["Somatic mosaicism","HP:0001442"]
["Abnormality of the gluteal musculature","HP:0001443"]
["Autosomal dominant somatic cell mutation","HP:0001444"]
["Abnormality of the hip-girdle musculature","HP:0001445"]
["Abnormality of the musculature of the upper limbs","HP:0001446"]
["Duplication of metatarsal bones","HP:0001449"]
["Y-linked inheritance","HP:0001450"]
["Autosomal dominant contiguous gene syndrome","HP:0001452"]
["Abnormality of the upper arm","HP:0001454"]
["Abnormality of the musculature of the upper arm","HP:0001457"]
["1-3 toe syndactyly","HP:0001459"]
["Aplasia/Hypoplasia involving the skeletal musculature","HP:0001460"]
["Aplasia/Hypoplasia involving the shoulder musculature","HP:0001464"]
["Amyotrophy involving the shoulder musculature","HP:0001465"]
["Contiguous gene syndrome","HP:0001466"]
["Aplasia/Hypoplasia involving the musculature of the upper limbs","HP:0001467"]
["Aplasia/Hypoplasia involving the musculature of the upper arm","HP:0001468"]
["Abnormal morphology of the pelvis musculature","HP:0001469"]
["Sex-limited autosomal dominant","HP:0001470"]
["Aplasia/Hypoplasia of the musculature of the pelvis","HP:0001471"]
["obsolete Familial predisposition","HP:0001472"]
["Metatarsal osteolysis","HP:0001473"]
["Sclerotic scapulae","HP:0001474"]
["Male-limited autosomal dominant","HP:0001475"]
["Delayed closure of the anterior fontanelle","HP:0001476"]
["Compensatory chin elevation","HP:0001477"]
["Freckling","HP:0001480"]
["Subcutaneous nodule","HP:0001482"]
["Eye poking","HP:0001483"]
["obsolete Hypopigmented fundi","HP:0001487"]
["Bilateral ptosis","HP:0001488"]
["Posterior vitreous detachment","HP:0001489"]
["Congenital fibrosis of extraocular muscles","HP:0001491"]
["Axenfeld anomaly","HP:0001492"]
["Falciform retinal fold","HP:0001493"]
["Carpal osteolysis","HP:0001495"]
["Carpal bone hypoplasia","HP:0001498"]
["Broad finger","HP:0001500"]
["6 metacarpals","HP:0001501"]
["Metacarpal osteolysis","HP:0001504"]
["Growth abnormality","HP:0001507"]
["Failure to thrive","HP:0001508"]
["Growth delay","HP:0001510"]
["Intrauterine growth retardation","HP:0001511"]
["Obesity","HP:0001513"]
["Small for gestational age","HP:0001518"]
["Disproportionate tall stature","HP:0001519"]
["Large for gestational age","HP:0001520"]
["Death in infancy","HP:0001522"]
["Severe failure to thrive","HP:0001525"]
["Hemihypertrophy","HP:0001528"]
["Mild postnatal growth retardation","HP:0001530"]
["Failure to thrive in infancy","HP:0001531"]
["Slender build","HP:0001533"]
["Umbilical hernia","HP:0001537"]
["Protuberant abdomen","HP:0001538"]
["Omphalocele","HP:0001539"]
["Diastasis recti","HP:0001540"]
["Ascites","HP:0001541"]
["Gastroschisis","HP:0001543"]
["Prominent umbilicus","HP:0001544"]
["Anteriorly placed anus","HP:0001545"]
["Abnormal rib cage morphology","HP:0001547"]
["Overgrowth","HP:0001548"]
["Abnormal ileum morphology","HP:0001549"]
["Abnormal umbilicus morphology","HP:0001551"]
["Barrel-shaped chest","HP:0001552"]
["Asymmetry of the thorax","HP:0001555"]
["Prenatal movement abnormality","HP:0001557"]
["Decreased fetal movement","HP:0001558"]
["Abnormality of the amniotic fluid","HP:0001560"]
["Polyhydramnios","HP:0001561"]
["Oligohydramnios","HP:0001562"]
["Fetal polyuria","HP:0001563"]
["Widely-spaced maxillary central incisors","HP:0001566"]
["Multiple impacted teeth","HP:0001571"]
["Macrodontia","HP:0001572"]
["Abnormality of the integument","HP:0001574"]
["obsolete Mood changes","HP:0001575"]
["Primary hypercortisolism","HP:0001579"]
["Pigmented micronodular adrenocortical disease","HP:0001580"]
["Recurrent skin infections","HP:0001581"]
["Redundant skin","HP:0001582"]
["Rotary nystagmus","HP:0001583"]
["Vesicovaginal fistula","HP:0001586"]
["obsolete Primary ovarian failure","HP:0001587"]
["Bell-shaped thorax","HP:0001591"]
["Selective tooth agenesis","HP:0001592"]
["Maxillary lateral incisor microdontia","HP:0001593"]
["Abnormal hair morphology","HP:0001595"]
["Alopecia","HP:0001596"]
["Abnormality of the nail","HP:0001597"]
["Concave nail","HP:0001598"]
["Abnormality of the larynx","HP:0001600"]
["Laryngomalacia","HP:0001601"]
["Laryngeal stenosis","HP:0001602"]
["Vocal cord paresis","HP:0001604"]
["Vocal cord paralysis","HP:0001605"]
["obsolete Vocal cord paralysis (caused by tumor impingement)","HP:0001606"]
["Subglottic stenosis","HP:0001607"]
["Abnormality of the voice","HP:0001608"]
["Hoarse voice","HP:0001609"]
["Nasal speech","HP:0001611"]
["Weak cry","HP:0001612"]
["obsolete Hoarse voice (caused by tumor impingement)","HP:0001613"]
["Hoarse cry","HP:0001615"]
["Dysphonia","HP:0001618"]
["High pitched voice","HP:0001620"]
["Weak voice","HP:0001621"]
["Premature birth","HP:0001622"]
["Breech presentation","HP:0001623"]
["Abnormality of the cardiovascular system","HP:0001626"]
["Abnormal heart morphology","HP:0001627"]
["Ventricular septal defect","HP:0001629"]
["Atrial septal defect","HP:0001631"]
["Abnormal mitral valve morphology","HP:0001633"]
["Mitral valve prolapse","HP:0001634"]
["Congestive heart failure","HP:0001635"]
["Tetralogy of Fallot","HP:0001636"]
["Abnormal myocardium morphology","HP:0001637"]
["Cardiomyopathy","HP:0001638"]
["Hypertrophic cardiomyopathy","HP:0001639"]
["Cardiomegaly","HP:0001640"]
["Abnormal pulmonary valve morphology","HP:0001641"]
["Pulmonic stenosis","HP:0001642"]
["Patent ductus arteriosus","HP:0001643"]
["Dilated cardiomyopathy","HP:0001644"]
["Sudden cardiac death","HP:0001645"]
["Abnormal aortic valve morphology","HP:0001646"]
["Bicuspid aortic valve","HP:0001647"]
["Cor pulmonale","HP:0001648"]
["Tachycardia","HP:0001649"]
["Aortic valve stenosis","HP:0001650"]
["Dextrocardia","HP:0001651"]
["Mitral regurgitation","HP:0001653"]
["Abnormal heart valve morphology","HP:0001654"]
["Patent foramen ovale","HP:0001655"]
["Prolonged QT interval","HP:0001657"]
["Myocardial infarction","HP:0001658"]
["Aortic regurgitation","HP:0001659"]
["Truncus arteriosus","HP:0001660"]
["Bradycardia","HP:0001662"]
["Ventricular fibrillation","HP:0001663"]
["Torsade de pointes","HP:0001664"]
["Right ventricular hypertrophy","HP:0001667"]
["Transposition of the great arteries","HP:0001669"]
["Asymmetric septal hypertrophy","HP:0001670"]
["Abnormal cardiac septum morphology","HP:0001671"]
["obsolete Tachycardia (with pheochromocytoma)","HP:0001673"]
["Complete atrioventricular canal defect","HP:0001674"]
["obsolete Rhythm disturbances associated with pheochromocytoma","HP:0001675"]
["obsolete Palpitations (with pheochromocytoma)","HP:0001676"]
["Coronary artery atherosclerosis","HP:0001677"]
["Atrioventricular block","HP:0001678"]
["Abnormal aortic morphology","HP:0001679"]
["Coarctation of aorta","HP:0001680"]
["Angina pectoris","HP:0001681"]
["Subvalvular aortic stenosis","HP:0001682"]
["Ectopia cordis","HP:0001683"]
["Secundum atrial septal defect","HP:0001684"]
["Myocardial fibrosis","HP:0001685"]
["Loss of voice","HP:0001686"]
["Sinus bradycardia","HP:0001688"]
["Muscular subvalvular aortic stenosis","HP:0001691"]
["Atrial arrhythmia","HP:0001692"]
["Cardiac shunt","HP:0001693"]
["Right-to-left shunt","HP:0001694"]
["Cardiac arrest","HP:0001695"]
["Situs inversus totalis","HP:0001696"]
["Abnormal pericardium morphology","HP:0001697"]
["Pericardial effusion","HP:0001698"]
["Sudden death","HP:0001699"]
["Myocardial necrosis","HP:0001700"]
["Pericarditis","HP:0001701"]
["Abnormal tricuspid valve morphology","HP:0001702"]
["Tricuspid valve prolapse","HP:0001704"]
["Right ventricular outlet tract obstruction","HP:0001705"]
["Endocardial fibroelastosis","HP:0001706"]
["Abnormal right ventricle morphology","HP:0001707"]
["Right ventricular failure","HP:0001708"]
["Third degree atrioventricular block","HP:0001709"]
["Conotruncal defect","HP:0001710"]
["Abnormal left ventricle morphology","HP:0001711"]
["Left ventricular hypertrophy","HP:0001712"]
["Abnormal cardiac ventricle morphology","HP:0001713"]
["Ventricular hypertrophy","HP:0001714"]
["Wolff-Parkinson-White syndrome","HP:0001716"]
["Coronary artery calcification","HP:0001717"]
["Mitral stenosis","HP:0001718"]
["Double outlet right ventricle","HP:0001719"]
["High-output congestive heart failure","HP:0001722"]
["Restrictive cardiomyopathy","HP:0001723"]
["obsolete Aortic dilatation","HP:0001724"]
["obsolete Increased prevalence of valvular disease","HP:0001726"]
["Thromboembolic stroke","HP:0001727"]
["Progressive hearing impairment","HP:0001730"]
["Abnormality of the pancreas","HP:0001732"]
["Pancreatitis","HP:0001733"]
["Annular pancreas","HP:0001734"]
["Acute pancreatitis","HP:0001735"]
["Pancreatic cysts","HP:0001737"]
["Exocrine pancreatic insufficiency","HP:0001738"]
["Abnormal nasopharynx morphology","HP:0001739"]
["Phimosis","HP:0001741"]
["Nasal congestion","HP:0001742"]
["Abnormality of the spleen","HP:0001743"]
["Splenomegaly","HP:0001744"]
["Asplenia","HP:0001746"]
["Accessory spleen","HP:0001747"]
["Polysplenia","HP:0001748"]
["Single ventricle","HP:0001750"]
["Vestibular dysfunction","HP:0001751"]
["Vestibular hypofunction","HP:0001756"]
["High-frequency sensorineural hearing impairment","HP:0001757"]
["Abnormal foot morphology","HP:0001760"]
["Pes cavus","HP:0001761"]
["Talipes equinovarus","HP:0001762"]
["Pes planus","HP:0001763"]
["Hammertoe","HP:0001765"]
["Broad foot","HP:0001769"]
["Toe syndactyly","HP:0001770"]
["Achilles tendon contracture","HP:0001771"]
["Talipes equinovalgus","HP:0001772"]
["Short foot","HP:0001773"]
["Tarsal osteovalgus","HP:0001775"]
["Bilateral talipes equinovarus","HP:0001776"]
["Abnormality of toe","HP:0001780"]
["Bulbous tips of toes","HP:0001782"]
["Broad metatarsal","HP:0001783"]
["Ankle swelling","HP:0001785"]
["Narrow foot","HP:0001786"]
["Abnormal delivery","HP:0001787"]
["Premature rupture of membranes","HP:0001788"]
["Hydrops fetalis","HP:0001789"]
["Nonimmune hydrops fetalis","HP:0001790"]
["Fetal ascites","HP:0001791"]
["Small nail","HP:0001792"]
["Hyperconvex nail","HP:0001795"]
["Anonychia","HP:0001798"]
["Short nail","HP:0001799"]
["Hypoplastic toenails","HP:0001800"]
["Absent toenail","HP:0001802"]
["Nail pits","HP:0001803"]
["Hypoplastic fingernail","HP:0001804"]
["Onychogryposis","HP:0001805"]
["Onycholysis","HP:0001806"]
["Ridged nail","HP:0001807"]
["Fragile nails","HP:0001808"]
["Split nail","HP:0001809"]
["Dystrophic toenail","HP:0001810"]
["Hyperconvex fingernails","HP:0001812"]
["Deep-set nails","HP:0001814"]
["Thin nail","HP:0001816"]
["Absent fingernail","HP:0001817"]
["Paronychia","HP:0001818"]
["Leukonychia","HP:0001820"]
["Broad nail","HP:0001821"]
["Hallux valgus","HP:0001822"]
["Weight loss","HP:0001824"]
["Genital tract atresia","HP:0001827"]
["Foot polydactyly","HP:0001829"]
["Postaxial foot polydactyly","HP:0001830"]
["Short toe","HP:0001831"]
["Abnormal metatarsal morphology","HP:0001832"]
["Long foot","HP:0001833"]
["Camptodactyly of toe","HP:0001836"]
["Broad toe","HP:0001837"]
["Rocker bottom foot","HP:0001838"]
["Split foot","HP:0001839"]
["Metatarsus adductus","HP:0001840"]
["Preaxial foot polydactyly","HP:0001841"]
["Foot acroosteolysis","HP:0001842"]
["Abnormality of the hallux","HP:0001844"]
["Overlapping toe","HP:0001845"]
["Long hallux","HP:0001847"]
["Calcaneovalgus deformity","HP:0001848"]
["Foot oligodactyly","HP:0001849"]
["Abnormality of the tarsal bones","HP:0001850"]
["Sandal gap","HP:0001852"]
["Bifid distal phalanx of toe","HP:0001853"]
["Podagra","HP:0001854"]
["Short distal phalanx of toe","HP:0001857"]
["Distal foot symphalangism","HP:0001859"]
["obsolete Acral ulceration and osteomyelitis leading to autoamputation of the digits (feet)","HP:0001862"]
["Toe clinodactyly","HP:0001863"]
["Clinodactyly of the 5th toe","HP:0001864"]
["Autoamputation of foot","HP:0001868"]
["Deep plantar creases","HP:0001869"]
["Acroosteolysis of distal phalanges (feet)","HP:0001870"]
["Abnormality of blood and blood-forming tissues","HP:0001871"]
["Abnormal thrombocyte morphology","HP:0001872"]
["Thrombocytopenia","HP:0001873"]
["Abnormality of neutrophils","HP:0001874"]
["Neutropenia","HP:0001875"]
["Pancytopenia","HP:0001876"]
["Abnormal erythrocyte morphology","HP:0001877"]
["Hemolytic anemia","HP:0001878"]
["Abnormal eosinophil morphology","HP:0001879"]
["Eosinophilia","HP:0001880"]
["Abnormal leukocyte morphology","HP:0001881"]
["Leukopenia","HP:0001882"]
["Talipes","HP:0001883"]
["Talipes calcaneovalgus","HP:0001884"]
["Short 2nd toe","HP:0001885"]
["Foot osteomyelitis","HP:0001886"]
["Lymphopenia","HP:0001888"]
["Megaloblastic anemia","HP:0001889"]
["Autoimmune hemolytic anemia","HP:0001890"]
["Iron deficiency anemia","HP:0001891"]
["Abnormal bleeding","HP:0001892"]
["Thrombocytosis","HP:0001894"]
["Normochromic anemia","HP:0001895"]
["Reticulocytopenia","HP:0001896"]
["Normocytic anemia","HP:0001897"]
["Increased red blood cell mass","HP:0001898"]
["Increased hematocrit","HP:0001899"]
["Increased hemoglobin","HP:0001900"]
["Polycythemia","HP:0001901"]
["Giant platelets","HP:0001902"]
["Anemia","HP:0001903"]
["Neutropenia in presence of anti-neutropil antibodies","HP:0001904"]
["Congenital thrombocytopenia","HP:0001905"]
["Thromboembolism","HP:0001907"]
["Hypoplastic anemia","HP:0001908"]
["Leukemia","HP:0001909"]
["Abnormal granulocyte morphology","HP:0001911"]
["Abnormal basophil morphology","HP:0001912"]
["Granulocytopenia","HP:0001913"]
["Aplastic anemia","HP:0001915"]
["Renal amyloidosis","HP:0001917"]
["Acute kidney injury","HP:0001919"]
["Renal artery stenosis","HP:0001920"]
["Vacuolated lymphocytes","HP:0001922"]
["Reticulocytosis","HP:0001923"]
["Sideroblastic anemia","HP:0001924"]
["Acanthocytosis","HP:0001927"]
["Abnormality of coagulation","HP:0001928"]
["Reduced factor XI activity","HP:0001929"]
["Nonspherocytic hemolytic anemia","HP:0001930"]
["Hypochromic anemia","HP:0001931"]
["Subcutaneous hemorrhage","HP:0001933"]
["Persistent bleeding after trauma","HP:0001934"]
["Microcytic anemia","HP:0001935"]
["Microangiopathic hemolytic anemia","HP:0001937"]
["Abnormality of metabolism/homeostasis","HP:0001939"]
["Acidosis","HP:0001941"]
["Metabolic acidosis","HP:0001942"]
["Hypoglycemia","HP:0001943"]
["Dehydration","HP:0001944"]
["Fever","HP:0001945"]
["Ketosis","HP:0001946"]
["Renal tubular acidosis","HP:0001947"]
["Alkalosis","HP:0001948"]
["Hypokalemic alkalosis","HP:0001949"]
["Respiratory alkalosis","HP:0001950"]
["Episodic ammonia intoxication","HP:0001951"]
["Glucose intolerance","HP:0001952"]
["Diabetic ketoacidosis","HP:0001953"]
["Recurrent fever","HP:0001954"]
["Unexplained fevers","HP:0001955"]
["Truncal obesity","HP:0001956"]
["Nonketotic hypoglycemia","HP:0001958"]
["Polydipsia","HP:0001959"]
["Hypokalemic metabolic alkalosis","HP:0001960"]
["Hypoplastic heart","HP:0001961"]
["Palpitations","HP:0001962"]
["Abnormal speech discrimination","HP:0001963"]
["Aplasia/Hypoplasia of metatarsal bones","HP:0001964"]
["Abnormal scalp morphology","HP:0001965"]
["Abnormal glomerular mesangium morphology","HP:0001966"]
["Diffuse mesangial sclerosis","HP:0001967"]
["Abnormal tubulointerstitial morphology","HP:0001969"]
["Tubulointerstitial nephritis","HP:0001970"]
["Hypersplenism","HP:0001971"]
["Macrocytic anemia","HP:0001972"]
["Autoimmune thrombocytopenia","HP:0001973"]
["Leukocytosis","HP:0001974"]
["Decreased platelet glycoprotein IIb-IIIa","HP:0001975"]
["Reduced antithrombin III activity","HP:0001976"]
["Abnormal thrombosis","HP:0001977"]
["Extramedullary hematopoiesis","HP:0001978"]
["Megaloblastic bone marrow","HP:0001980"]
["Schistocytosis","HP:0001981"]
["Sea-blue histiocytosis","HP:0001982"]
["Reduced lymphocyte surface expression of CD43","HP:0001983"]
["Intolerance to protein","HP:0001984"]
["Hypoketotic hypoglycemia","HP:0001985"]
["Hypertonic dehydration","HP:0001986"]
["Hyperammonemia","HP:0001987"]
["Recurrent hypoglycemia","HP:0001988"]
["Fetal akinesia sequence","HP:0001989"]
["Aplasia/Hypoplasia of toe","HP:0001991"]
["Organic aciduria","HP:0001992"]
["Ketoacidosis","HP:0001993"]
["Renal Fanconi syndrome","HP:0001994"]
["Hyperchloremic acidosis","HP:0001995"]
["Chronic metabolic acidosis","HP:0001996"]
["Gout","HP:0001997"]
["Neonatal hypoglycemia","HP:0001998"]
["Abnormal facial shape","HP:0001999"]
["Short columella","HP:0002000"]
["Deep philtrum","HP:0002002"]
["Large forehead","HP:0002003"]
["Facial cleft","HP:0002006"]
["Frontal bossing","HP:0002007"]
["Potter facies","HP:0002009"]
["Narrow maxilla","HP:0002010"]
["Morphological central nervous system abnormality","HP:0002011"]
["Abnormality of the abdominal organs","HP:0002012"]
["Vomiting","HP:0002013"]
["Diarrhea","HP:0002014"]
["Dysphagia","HP:0002015"]
["Nausea and vomiting","HP:0002017"]
["Nausea","HP:0002018"]
["Constipation","HP:0002019"]
["Gastroesophageal reflux","HP:0002020"]
["Pyloric stenosis","HP:0002021"]
["Anal atresia","HP:0002023"]
["Malabsorption","HP:0002024"]
["Anal stenosis","HP:0002025"]
["Abdominal pain","HP:0002027"]
["Chronic diarrhea","HP:0002028"]
["Abnormal esophagus morphology","HP:0002031"]
["Esophageal atresia","HP:0002032"]
["Poor suck","HP:0002033"]
["Abnormal rectum morphology","HP:0002034"]
["Rectal prolapse","HP:0002035"]
["Hiatus hernia","HP:0002036"]
["Inflammation of the large intestine","HP:0002037"]
["Protein avoidance","HP:0002038"]
["Anorexia","HP:0002039"]
["Esophageal varix","HP:0002040"]
["Intractable diarrhea","HP:0002041"]
["Esophageal stricture","HP:0002043"]
["Zollinger-Ellison syndrome","HP:0002044"]
["Hypothermia","HP:0002045"]
["Heat intolerance","HP:0002046"]
["Malignant hyperthermia","HP:0002047"]
["Renal cortical atrophy","HP:0002048"]
["Proximal renal tubular acidosis","HP:0002049"]
["Macroorchidism, postpubertal","HP:0002050"]
["Heavy supraorbital ridges","HP:0002054"]
["Curved linear dimple below the lower lip","HP:0002055"]
["Abnormality of the glabella","HP:0002056"]
["Prominent glabella","HP:0002057"]
["Myopathic facies","HP:0002058"]
["Cerebral atrophy","HP:0002059"]
["Abnormal cerebral morphology","HP:0002060"]
["Lower limb spasticity","HP:0002061"]
["Morphological abnormality of the pyramidal tract","HP:0002062"]
["Rigidity","HP:0002063"]
["Spastic gait","HP:0002064"]
["Gait ataxia","HP:0002066"]
["Bradykinesia","HP:0002067"]
["Neuromuscular dysphagia","HP:0002068"]
["Bilateral tonic-clonic seizure","HP:0002069"]
["Limb ataxia","HP:0002070"]
["Abnormality of extrapyramidal motor function","HP:0002071"]
["Chorea","HP:0002072"]
["Progressive cerebellar ataxia","HP:0002073"]
["Increased neuronal autofluorescent lipopigment","HP:0002074"]
["Dysdiadochokinesis","HP:0002075"]
["Migraine","HP:0002076"]
["Migraine with aura","HP:0002077"]
["Truncal ataxia","HP:0002078"]
["Hypoplasia of the corpus callosum","HP:0002079"]
["Intention tremor","HP:0002080"]
["Migraine without aura","HP:0002083"]
["Encephalocele","HP:0002084"]
["Occipital encephalocele","HP:0002085"]
["Abnormality of the respiratory system","HP:0002086"]
["Abnormality of the upper respiratory tract","HP:0002087"]
["Abnormal lung morphology","HP:0002088"]
["Pulmonary hypoplasia","HP:0002089"]
["Pneumonia","HP:0002090"]
["Restrictive ventilatory defect","HP:0002091"]
["Pulmonary arterial hypertension","HP:0002092"]
["Respiratory insufficiency","HP:0002093"]
["Dyspnea","HP:0002094"]
["Emphysema","HP:0002097"]
["Respiratory distress","HP:0002098"]
["Asthma","HP:0002099"]
["Recurrent aspiration pneumonia","HP:0002100"]
["Abnormal lung lobation","HP:0002101"]
["Pleuritis","HP:0002102"]
["Abnormal pleura morphology","HP:0002103"]
["Apnea","HP:0002104"]
["Hemoptysis","HP:0002105"]
["Pneumothorax","HP:0002107"]
["Spontaneous pneumothorax","HP:0002108"]
["obsolete Abnormality of the bronchi","HP:0002109"]
["Bronchiectasis","HP:0002110"]
["obsolete Restrictive deficit on pulmonary function testing","HP:0002111"]
["Pulmonary infiltrates","HP:0002113"]
["Abnormal cerebral ventricle morphology","HP:0002118"]
["Ventriculomegaly","HP:0002119"]
["Cerebral cortical atrophy","HP:0002120"]
["Generalized non-motor (absence) seizure","HP:0002121"]
["Generalized myoclonic seizure","HP:0002123"]
["Polymicrogyria","HP:0002126"]
["Abnormal upper motor neuron morphology","HP:0002127"]
["Episodic ataxia","HP:0002131"]
["Porencephalic cyst","HP:0002132"]
["Status epilepticus","HP:0002133"]
["Abnormality of the basal ganglia","HP:0002134"]
["Basal ganglia calcification","HP:0002135"]
["Broad-based gait","HP:0002136"]
["Subarachnoid hemorrhage","HP:0002138"]
["Arrhinencephaly","HP:0002139"]
["Ischemic stroke","HP:0002140"]
["Gait imbalance","HP:0002141"]
["Abnormality of the spinal cord","HP:0002143"]
["Tethered cord","HP:0002144"]
["Frontotemporal dementia","HP:0002145"]
["Hypophosphatemia","HP:0002148"]
["Hyperuricemia","HP:0002149"]
["Hypercalciuria","HP:0002150"]
["Increased serum lactate","HP:0002151"]
["Hyperproteinemia","HP:0002152"]
["Hyperkalemia","HP:0002153"]
["Hyperglycinemia","HP:0002154"]
["Hypertriglyceridemia","HP:0002155"]
["Homocystinuria","HP:0002156"]
["Azotemia","HP:0002157"]
["Heparan sulfate excretion in urine","HP:0002159"]
["Hyperhomocystinemia","HP:0002160"]
["Hyperlysinemia","HP:0002161"]
["Low posterior hairline","HP:0002162"]
["Nail dysplasia","HP:0002164"]
["Pterygium of nails","HP:0002165"]
["Impaired vibration sensation in the lower limbs","HP:0002166"]
["Neurological speech impairment","HP:0002167"]
["Scanning speech","HP:0002168"]
["Clonus","HP:0002169"]
["Intracranial hemorrhage","HP:0002170"]
["Gliosis","HP:0002171"]
["Postural instability","HP:0002172"]
["Hypoglycemic seizures","HP:0002173"]
["Postural tremor","HP:0002174"]
["Spinal cord compression","HP:0002176"]
["Opisthotonus","HP:0002179"]
["Neurodegeneration","HP:0002180"]
["Cerebral edema","HP:0002181"]
["Phonophobia","HP:0002183"]
["Neurofibrillary tangles","HP:0002185"]
["Apraxia","HP:0002186"]
["Intellectual disability, profound","HP:0002187"]
["Delayed CNS myelination","HP:0002188"]
["obsolete Excessive daytime sleepiness","HP:0002189"]
["Choroid plexus cyst","HP:0002190"]
["Progressive spasticity","HP:0002191"]
["Pseudobulbar behavioral symptoms","HP:0002193"]
["Delayed gross motor development","HP:0002194"]
["Dysgenesis of the cerebellar vermis","HP:0002195"]
["Myelopathy","HP:0002196"]
["Generalized-onset seizure","HP:0002197"]
["Dilated fourth ventricle","HP:0002198"]
["Hypocalcemic seizures","HP:0002199"]
["Pseudobulbar signs","HP:0002200"]
["Pleural effusion","HP:0002202"]
["Respiratory paralysis","HP:0002203"]
["Pulmonary embolism","HP:0002204"]
["Recurrent respiratory infections","HP:0002205"]
["Pulmonary fibrosis","HP:0002206"]
["Diffuse reticular or finely nodular infiltrations","HP:0002207"]
["Coarse hair","HP:0002208"]
["Sparse scalp hair","HP:0002209"]
["White forelock","HP:0002211"]
["Curly hair","HP:0002212"]
["Fine hair","HP:0002213"]
["Sparse axillary hair","HP:0002215"]
["Premature graying of hair","HP:0002216"]
["Slow-growing hair","HP:0002217"]
["Silver-gray hair","HP:0002218"]
["Facial hypertrichosis","HP:0002219"]
["Melanin pigment aggregation in hair shafts","HP:0002220"]
["Absent axillary hair","HP:0002221"]
["Absent eyebrow","HP:0002223"]
["Woolly hair","HP:0002224"]
["Sparse pubic hair","HP:0002225"]
["White eyebrow","HP:0002226"]
["White eyelashes","HP:0002227"]
["obsolete Alopecia areata","HP:0002229"]
["Generalized hirsutism","HP:0002230"]
["Sparse body hair","HP:0002231"]
["Patchy alopecia","HP:0002232"]
["Early balding","HP:0002234"]
["Pili canaliculi","HP:0002235"]
["Frontal upsweep of hair","HP:0002236"]
["Gastrointestinal hemorrhage","HP:0002239"]
["Hepatomegaly","HP:0002240"]
["Abnormal intestine morphology","HP:0002242"]
["Protein-losing enteropathy","HP:0002243"]
["Abnormality of the small intestine","HP:0002244"]
["Meckel diverticulum","HP:0002245"]
["Abnormal duodenum morphology","HP:0002246"]
["Duodenal atresia","HP:0002247"]
["Hematemesis","HP:0002248"]
["Melena","HP:0002249"]
["Abnormal large intestine morphology","HP:0002250"]
["Aganglionic megacolon","HP:0002251"]
["Colonic diverticula","HP:0002253"]
["Intermittent diarrhea","HP:0002254"]
["Small bowel diverticula","HP:0002256"]
["Chronic rhinitis","HP:0002257"]
["Exaggerated cupid's bow","HP:0002263"]
["Large fleshy ears","HP:0002265"]
["Focal clonic seizure","HP:0002266"]
["Exaggerated startle response","HP:0002267"]
["Paroxysmal dystonia","HP:0002268"]
["Abnormality of neuronal migration","HP:0002269"]
["Abnormality of the autonomic nervous system","HP:0002270"]
["obsolete Autonomic dysregulation","HP:0002271"]
["Tetraparesis","HP:0002273"]
["Poor motor coordination","HP:0002275"]
["Horner syndrome","HP:0002277"]
["Enlarged cisterna magna","HP:0002280"]
["obsolete Gray matter heterotopias","HP:0002281"]
["Gray matter heterotopia","HP:0002282"]
["Global brain atrophy","HP:0002283"]
["Fair hair","HP:0002286"]
["Progressive alopecia","HP:0002287"]
["Alopecia universalis","HP:0002289"]
["Poliosis","HP:0002290"]
["Frontal balding","HP:0002292"]
["Alopecia of scalp","HP:0002293"]
["Progressive hypotrichosis","HP:0002296"]
["Red hair","HP:0002297"]
["Absent hair","HP:0002298"]
["Brittle hair","HP:0002299"]
["Mutism","HP:0002300"]
["Hemiplegia","HP:0002301"]
["Akinesia","HP:0002304"]
["Athetosis","HP:0002305"]
["Drooling","HP:0002307"]
["Arnold-Chiari malformation","HP:0002308"]
["Orofacial dyskinesia","HP:0002310"]
["Incoordination","HP:0002311"]
["Clumsiness","HP:0002312"]
["Spastic paraparesis","HP:0002313"]
["Degeneration of the lateral corticospinal tracts","HP:0002314"]
["Headache","HP:0002315"]
["Unsteady gait","HP:0002317"]
["Cervical myelopathy","HP:0002318"]
["Vertigo","HP:0002321"]
["Resting tremor","HP:0002322"]
["Anencephaly","HP:0002323"]
["Hydranencephaly","HP:0002324"]
["Transient ischemic attack","HP:0002326"]
["Drowsiness","HP:0002329"]
["Paroxysmal drowsiness","HP:0002330"]
["Recurrent paroxysmal headache","HP:0002331"]
["Lack of peer relationships","HP:0002332"]
["Motor deterioration","HP:0002333"]
["Abnormal cerebellar vermis morphology","HP:0002334"]
["Agenesis of cerebellar vermis","HP:0002335"]
["Abnormal caudate nucleus morphology","HP:0002339"]
["Caudate atrophy","HP:0002340"]
["Cervical cord compression","HP:0002341"]
["Intellectual disability, moderate","HP:0002342"]
["Normal pressure hydrocephalus","HP:0002343"]
["Progressive neurologic deterioration","HP:0002344"]
["Action tremor","HP:0002345"]
["Head tremor","HP:0002346"]
["Focal aware seizure","HP:0002349"]
["Cerebellar cyst","HP:0002350"]
["Leukoencephalopathy","HP:0002352"]
["EEG abnormality","HP:0002353"]
["Memory impairment","HP:0002354"]
["Difficulty walking","HP:0002355"]
["Writer's cramp","HP:0002356"]
["Dysphasia","HP:0002357"]
["Frequent falls","HP:0002359"]
["Sleep disturbance","HP:0002360"]
["Psychomotor deterioration","HP:0002361"]
["Shuffling gait","HP:0002362"]
["Abnormal brainstem morphology","HP:0002363"]
["Hypoplasia of the brainstem","HP:0002365"]
["Abnormal lower motor neuron morphology","HP:0002366"]
["Visual hallucinations","HP:0002367"]
["Poor coordination","HP:0002370"]
["Loss of speech","HP:0002371"]
["Normal interictal EEG","HP:0002372"]
["Febrile seizure (within the age range of 3 months to 6 years)","HP:0002373"]
["Diminished movement","HP:0002374"]
["Hypokinesia","HP:0002375"]
["Developmental regression","HP:0002376"]
["obsolete Paraganglioma-related cranial nerve palsy","HP:0002377"]
["Hand tremor","HP:0002378"]
["Fasciculations","HP:0002380"]
["Aphasia","HP:0002381"]
["Encephalitis","HP:0002383"]
["Focal impaired awareness seizure","HP:0002384"]
["Paraparesis","HP:0002385"]
["Cavum septum pellucidum","HP:0002389"]
["Spinal arteriovenous malformation","HP:0002390"]
["EEG with polyspike wave complexes","HP:0002392"]
["Lower limb hyperreflexia","HP:0002395"]
["Cogwheel rigidity","HP:0002396"]
["Degeneration of anterior horn cells","HP:0002398"]
["Stroke-like episode","HP:0002401"]
["Positive Romberg sign","HP:0002403"]
["Thickened superior cerebellar peduncle","HP:0002404"]
["Limb dysmetria","HP:0002406"]
["Cerebral arteriovenous malformation","HP:0002408"]
["Aqueductal stenosis","HP:0002410"]
["Myokymia","HP:0002411"]
["Spina bifida","HP:0002414"]
["Leukodystrophy","HP:0002415"]
["Subependymal cysts","HP:0002416"]
["Abnormal midbrain morphology","HP:0002418"]
["Molar tooth sign on MRI","HP:0002419"]
["Poor head control","HP:0002421"]
["Long-tract signs","HP:0002423"]
["Anarthria","HP:0002425"]
["Expressive aphasia","HP:0002427"]
["Meningocele","HP:0002435"]
["Occipital meningocele","HP:0002436"]
["Cerebellar malformation","HP:0002438"]
["Frontolimbic dementia","HP:0002439"]
["Dyscalculia","HP:0002442"]
["Hypothalamic hamartoma","HP:0002444"]
["Tetraplegia","HP:0002445"]
["Astrocytosis","HP:0002446"]
["Progressive encephalopathy","HP:0002448"]
["Abnormal motor neuron morphology","HP:0002450"]
["Limb dystonia","HP:0002451"]
["Abnormal globus pallidus morphology","HP:0002453"]
["Eye of the tiger anomaly of globus pallidus","HP:0002454"]
["Abnormal head movements","HP:0002457"]
["obsolete Dysautonomia","HP:0002459"]
["Distal muscle weakness","HP:0002460"]
["Dense calcifications in the cerebellar dentate nucleus","HP:0002461"]
["Language impairment","HP:0002463"]
["Spastic dysarthria","HP:0002464"]
["Poor speech","HP:0002465"]
["Nonprogressive cerebellar ataxia","HP:0002470"]
["Small cerebral cortex","HP:0002472"]
["Expressive language delay","HP:0002474"]
["Myelomeningocele","HP:0002475"]
["Primitive reflex","HP:0002476"]
["Progressive spastic quadriplegia","HP:0002478"]
["Hepatic encephalopathy","HP:0002480"]
["Bulbar signs","HP:0002483"]
["Myotonia","HP:0002486"]
["Hyperkinetic movements","HP:0002487"]
["Acute leukemia","HP:0002488"]
["Increased CSF lactate","HP:0002490"]
["Spasticity of facial muscles","HP:0002491"]
["Morphological abnormality of the corticospinal tract","HP:0002492"]
["Upper motor neuron dysfunction","HP:0002493"]
["Abnormal rapid eye movement sleep","HP:0002494"]
["Impaired vibratory sensation","HP:0002495"]
["Spastic ataxia","HP:0002497"]
["Abnormal cerebral white matter morphology","HP:0002500"]
["Spasticity of pharyngeal muscles","HP:0002501"]
["Spinocerebellar tract degeneration","HP:0002503"]
["Calcification of the small brain vessels","HP:0002504"]
["Progressive inability to walk","HP:0002505"]
["Diffuse cerebral atrophy","HP:0002506"]
["Semilobar holoprosencephaly","HP:0002507"]
["Brainstem dysplasia","HP:0002508"]
["Limb hypertonia","HP:0002509"]
["Spastic tetraplegia","HP:0002510"]
["Alzheimer disease","HP:0002511"]
["Brain stem compression","HP:0002512"]
["Cerebral calcification","HP:0002514"]
["Waddling gait","HP:0002515"]
["Increased intracranial pressure","HP:0002516"]
["Abnormal periventricular white matter morphology","HP:0002518"]
["Hypnagogic hallucinations","HP:0002519"]
["Hypsarrhythmia","HP:0002521"]
["Areflexia of lower limbs","HP:0002522"]
["Cataplexy","HP:0002524"]
["Deficit in nonword repetition","HP:0002526"]
["Falls","HP:0002527"]
["Granulovacuolar degeneration","HP:0002528"]
["Neuronal loss in central nervous system","HP:0002529"]
["Axial dystonia","HP:0002530"]
["Abnormal posturing","HP:0002533"]
["Abnormal cortical gyration","HP:0002536"]
["Abnormal cerebral cortex morphology","HP:0002538"]
["Cortical dysplasia","HP:0002539"]
["Inability to walk","HP:0002540"]
["Olivopontocerebellar atrophy","HP:0002542"]
["Retrocollis","HP:0002544"]
["Patchy demyelination of subcortical white matter","HP:0002545"]
["Incomprehensible speech","HP:0002546"]
["Parkinsonism with favorable response to dopaminergic medication","HP:0002548"]
["Deficit in phonologic short-term memory","HP:0002549"]
["Absent facial hair","HP:0002550"]
["Trichodysplasia","HP:0002552"]
["Highly arched eyebrow","HP:0002553"]
["Absent pubic hair","HP:0002555"]
["Hypoplastic nipples","HP:0002557"]
["Supernumerary nipple","HP:0002558"]
["Absent nipple","HP:0002561"]
["Low-set nipples","HP:0002562"]
["Constrictive pericarditis","HP:0002563"]
["obsolete Malformation of the heart and great vessels","HP:0002564"]
["Intestinal malrotation","HP:0002566"]
["Steatorrhea","HP:0002570"]
["Achalasia","HP:0002571"]
["Episodic vomiting","HP:0002572"]
["Hematochezia","HP:0002573"]
["Episodic abdominal pain","HP:0002574"]
["Tracheoesophageal fistula","HP:0002575"]
["Intussusception","HP:0002576"]
["Abnormal stomach morphology","HP:0002577"]
["Gastroparesis","HP:0002578"]
["Gastrointestinal dysmotility","HP:0002579"]
["Volvulus","HP:0002580"]
["Chronic atrophic gastritis","HP:0002582"]
["Colitis","HP:0002583"]
["Intestinal bleeding","HP:0002584"]
["Abnormality of the peritoneum","HP:0002585"]
["Peritonitis","HP:0002586"]
["Projectile vomiting","HP:0002587"]
["Duodenal ulcer","HP:0002588"]
["Gastrointestinal atresia","HP:0002589"]
["Paralytic ileus","HP:0002590"]
["Polyphagia","HP:0002591"]
["Gastric ulcer","HP:0002592"]
["Intestinal lymphangiectasia","HP:0002593"]
["Pancreatic hypoplasia","HP:0002594"]
["Ileus","HP:0002595"]
["Abnormality of the vasculature","HP:0002597"]
["Head titubation","HP:0002599"]
["Hyporeflexia of lower limbs","HP:0002600"]
["Paresis of extensor muscles of the big toe","HP:0002601"]
["Gastrointestinal telangiectasia","HP:0002604"]
["Hepatic necrosis","HP:0002605"]
["Bowel incontinence","HP:0002607"]
["Celiac disease","HP:0002608"]
["Cholestatic liver disease","HP:0002611"]
["Congenital hepatic fibrosis","HP:0002612"]
["Biliary cirrhosis","HP:0002613"]
["Hepatic periportal necrosis","HP:0002614"]
["Hypotension","HP:0002615"]
["Aortic root aneurysm","HP:0002616"]
["Vascular dilatation","HP:0002617"]
["Varicose veins","HP:0002619"]
["Atherosclerosis","HP:0002621"]
["obsolete Dissecting aortic dilatation","HP:0002622"]
["Overriding aorta","HP:0002623"]
["Abnormal venous morphology","HP:0002624"]
["Deep venous thrombosis","HP:0002625"]
["Venous varicosities of celiac and mesenteric vessels","HP:0002626"]
["Right aortic arch with mirror image branching","HP:0002627"]
["Gastrointestinal arteriovenous malformation","HP:0002629"]
["Fat malabsorption","HP:0002630"]
["obsolete Dilatation of ascending aorta","HP:0002631"]
["Low-to-normal blood pressure","HP:0002632"]
["Vasculitis","HP:0002633"]
["Arteriosclerosis","HP:0002634"]
["Type IV atherosclerotic lesion","HP:0002635"]
["Dilatation of an abdominal artery","HP:0002636"]
["Cerebral ischemia","HP:0002637"]
["Superficial thrombophlebitis","HP:0002638"]
["Budd-Chiari syndrome","HP:0002639"]
["Hypertension associated with pheochromocytoma","HP:0002640"]
["Peripheral thrombosis","HP:0002641"]
["Arteriovenous fistulas of celiac and mesenteric vessels","HP:0002642"]
["Neonatal respiratory distress","HP:0002643"]
["Abnormality of pelvic girdle bone morphology","HP:0002644"]
["Wormian bones","HP:0002645"]
["Aortic dissection","HP:0002647"]
["Abnormality of calvarial morphology","HP:0002648"]
["Scoliosis","HP:0002650"]
["Spondyloepimetaphyseal dysplasia","HP:0002651"]
["Skeletal dysplasia","HP:0002652"]
["Bone pain","HP:0002653"]
["Multiple epiphyseal dysplasia","HP:0002654"]
["Spondyloepiphyseal dysplasia","HP:0002655"]
["Epiphyseal dysplasia","HP:0002656"]
["Spondylometaphyseal dysplasia","HP:0002657"]
["Increased susceptibility to fractures","HP:0002659"]
["Painless fractures due to injury","HP:0002661"]
["Delayed epiphyseal ossification","HP:0002663"]
["Neoplasm","HP:0002664"]
["Lymphoma","HP:0002665"]
["Pheochromocytoma","HP:0002666"]
["Nephroblastoma","HP:0002667"]
["Paraganglioma","HP:0002668"]
["Osteosarcoma","HP:0002669"]
["Basal cell carcinoma","HP:0002671"]
["Gastrointestinal carcinoma","HP:0002672"]
["Coxa valga","HP:0002673"]
["Cloverleaf skull","HP:0002676"]
["Small foramen magnum","HP:0002677"]
["Skull asymmetry","HP:0002678"]
["Abnormal sella turcica morphology","HP:0002679"]
["J-shaped sella turcica","HP:0002680"]
["Deformed sella turcica","HP:0002681"]
["Broad skull","HP:0002682"]
["Abnormality of the calvaria","HP:0002683"]
["Thickened calvaria","HP:0002684"]
["Prenatal maternal abnormality","HP:0002686"]
["Abnormality of frontal sinus","HP:0002687"]
["Absent frontal sinuses","HP:0002688"]
["Absent paranasal sinuses","HP:0002689"]
["Large sella turcica","HP:0002690"]
["Platybasia","HP:0002691"]
["Hypoplastic facial bones","HP:0002692"]
["Abnormality of the skull base","HP:0002693"]
["Sclerosis of skull base","HP:0002694"]
["Symmetrical, oval parietal bone defects","HP:0002695"]
["Abnormal parietal bone morphology","HP:0002696"]
["Parietal foramina","HP:0002697"]
["Abnormal foramen magnum morphology","HP:0002699"]
["Large foramen magnum","HP:0002700"]
["Abnormality of skull ossification","HP:0002703"]
["High, narrow palate","HP:0002705"]
["Palate telangiectasia","HP:0002707"]
["Prominent median palatal raphe","HP:0002708"]
["Commissural lip pit","HP:0002710"]
["Exaggerated median tongue furrow","HP:0002711"]
["Downturned corners of mouth","HP:0002714"]
["Abnormality of the immune system","HP:0002715"]
["Lymphadenopathy","HP:0002716"]
["Adrenal overactivity","HP:0002717"]
["Recurrent bacterial infections","HP:0002718"]
["Recurrent infections","HP:0002719"]
["Decreased circulating IgA level","HP:0002720"]
["Immunodeficiency","HP:0002721"]
["Recurrent abscess formation","HP:0002722"]
["Absence of bactericidal oxidative respiratory burst in phagocytes","HP:0002723"]
["Recurrent Aspergillus infections","HP:0002724"]
["Systemic lupus erythematosus","HP:0002725"]
["Recurrent Staphylococcus aureus infections","HP:0002726"]
["Chronic mucocutaneous candidiasis","HP:0002728"]
["Follicular hyperplasia","HP:0002729"]
["Chronic noninfectious lymphadenopathy","HP:0002730"]
["Decreased lymphocyte apoptosis","HP:0002731"]
["Lymph node hypoplasia","HP:0002732"]
["Abnormality of the lymph nodes","HP:0002733"]
["Thick skull base","HP:0002737"]
["Hypoplastic frontal sinuses","HP:0002738"]
["Recurrent E. coli infections","HP:0002740"]
["Recurrent Serratia marcescens infections","HP:0002741"]
["Recurrent Klebsiella infections","HP:0002742"]
["Recurrent enteroviral infections","HP:0002743"]
["Bilateral cleft lip and palate","HP:0002744"]
["Oral leukoplakia","HP:0002745"]
["Respiratory insufficiency due to muscle weakness","HP:0002747"]
["Rickets","HP:0002748"]
["Osteomalacia","HP:0002749"]
["Delayed skeletal maturation","HP:0002750"]
["Kyphoscoliosis","HP:0002751"]
["Sparse bone trabeculae","HP:0002752"]
["Thin bony cortex","HP:0002753"]
["Osteomyelitis","HP:0002754"]
["obsolete Osteomyelitis due to immunodeficiency","HP:0002755"]
["Pathologic fracture","HP:0002756"]
["Recurrent fractures","HP:0002757"]
["Osteoarthritis","HP:0002758"]
["Generalized joint laxity","HP:0002761"]
["Multiple exostoses","HP:0002762"]
["Abnormal cartilage morphology","HP:0002763"]
["Stippled chondral calcification","HP:0002764"]
["Relatively short spine","HP:0002766"]
["obsolete Small vertebral bodies","HP:0002773"]
["Tracheal stenosis","HP:0002777"]
["Abnormal trachea morphology","HP:0002778"]
["Tracheomalacia","HP:0002779"]
["Bronchomalacia","HP:0002780"]
["Upper airway obstruction","HP:0002781"]
["Recurrent lower respiratory tract infections","HP:0002783"]
["Tracheobronchomalacia","HP:0002786"]
["Tracheal calcification","HP:0002787"]
["Recurrent upper respiratory tract infections","HP:0002788"]
["Tachypnea","HP:0002789"]
["Neonatal breathing dysregulation","HP:0002790"]
["Hypoventilation","HP:0002791"]
["Reduced vital capacity","HP:0002792"]
["Abnormal pattern of respiration","HP:0002793"]
["Abnormal respiratory system physiology","HP:0002795"]
["Osteolysis","HP:0002797"]
["Congenital contracture","HP:0002803"]
["Arthrogryposis multiplex congenita","HP:0002804"]
["Accelerated bone age after puberty","HP:0002805"]
["Kyphosis","HP:0002808"]
["Dumbbell-shaped metaphyses","HP:0002810"]
["Coxa vara","HP:0002812"]
["Abnormality of limb bone morphology","HP:0002813"]
["Abnormality of the lower limb","HP:0002814"]
["Abnormality of the knee","HP:0002815"]
["Genu recurvatum","HP:0002816"]
["Abnormality of the upper limb","HP:0002817"]
["Abnormality of the radius","HP:0002818"]
["Neuropathic arthropathy","HP:0002821"]
["Hyperplasia of the femoral trochanters","HP:0002822"]
["Abnormality of femur morphology","HP:0002823"]
["Caudal appendage","HP:0002825"]
["Halberd-shaped pelvis","HP:0002826"]
["Hip dislocation","HP:0002827"]
["Multiple joint contractures","HP:0002828"]
["Arthralgia","HP:0002829"]
["Long coccyx","HP:0002831"]
["Calcific stippling","HP:0002832"]
["Cystic angiomatosis of bone","HP:0002833"]
["Flared femoral metaphysis","HP:0002834"]
["Aspiration","HP:0002835"]
["Bladder exstrophy","HP:0002836"]
["Recurrent bronchitis","HP:0002837"]
["Urinary bladder sphincter dysfunction","HP:0002839"]
["Lymphadenitis","HP:0002840"]
["Recurrent fungal infections","HP:0002841"]
["Recurrent Burkholderia cepacia infections","HP:0002842"]
["Abnormal T cell morphology","HP:0002843"]
["obsolete Increased proportion of peripheral CD3+ T cells","HP:0002845"]
["Abnormal B cell morphology","HP:0002846"]
["Impaired memory B cell generation","HP:0002847"]
["Decreased specific anti-polysaccharide antibody level","HP:0002848"]
["Absence of lymph node germinal center","HP:0002849"]
["Decreased circulating total IgM","HP:0002850"]
["Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells","HP:0002851"]
["Increased proportion of HLA DR+ T cells","HP:0002853"]
["Genu valgum","HP:0002857"]
["Meningioma","HP:0002858"]
["Rhabdomyosarcoma","HP:0002859"]
["Squamous cell carcinoma","HP:0002860"]
["Melanoma","HP:0002861"]
["Bladder carcinoma","HP:0002862"]
["Myelodysplasia","HP:0002863"]
["Paraganglioma of head and neck","HP:0002864"]
["Medullary thyroid carcinoma","HP:0002865"]
["Hypoplastic iliac wing","HP:0002866"]
["Abnormal ilium morphology","HP:0002867"]
["Narrow iliac wing","HP:0002868"]
["Flared iliac wing","HP:0002869"]
["Obstructive sleep apnea","HP:0002870"]
["Central apnea","HP:0002871"]
["Apneic episodes precipitated by illness, fatigue, stress","HP:0002872"]
["Exertional dyspnea","HP:0002875"]
["Episodic tachypnea","HP:0002876"]
["Nocturnal hypoventilation","HP:0002877"]
["Respiratory failure","HP:0002878"]
["Anisospondyly","HP:0002879"]
["obsolete Respiratory difficulties","HP:0002880"]
["Sudden episodic apnea","HP:0002882"]
["Hyperventilation","HP:0002883"]
["Hepatoblastoma","HP:0002884"]
["Medulloblastoma","HP:0002885"]
["Vagal paraganglioma","HP:0002886"]
["Ependymoma","HP:0002888"]
["Thyroid carcinoma","HP:0002890"]
["Uterine leiomyosarcoma","HP:0002891"]
["Pituitary adenoma","HP:0002893"]
["Neoplasm of the pancreas","HP:0002894"]
["Papillary thyroid carcinoma","HP:0002895"]
["Neoplasm of the liver","HP:0002896"]
["Parathyroid adenoma","HP:0002897"]
["Embryonal neoplasm","HP:0002898"]
["Hypokalemia","HP:0002900"]
["Hypocalcemia","HP:0002901"]
["Hyponatremia","HP:0002902"]
["Hyperbilirubinemia","HP:0002904"]
["Hyperphosphatemia","HP:0002905"]
["Microscopic hematuria","HP:0002907"]
["Conjugated hyperbilirubinemia","HP:0002908"]
["Generalized aminoaciduria","HP:0002909"]
["Elevated hepatic transaminase","HP:0002910"]
["Methylmalonic acidemia","HP:0002912"]
["Myoglobinuria","HP:0002913"]
["Hyperchloriduria","HP:0002914"]
["Abnormality of chromosome segregation","HP:0002916"]
["Hypomagnesemia","HP:0002917"]
["Hypermagnesemia","HP:0002918"]
["Ketonuria","HP:0002919"]
["Decreased circulating ACTH level","HP:0002920"]
["Abnormality of the cerebrospinal fluid","HP:0002921"]
["Increased CSF protein","HP:0002922"]
["Rheumatoid factor positive","HP:0002923"]
["obsolete Decreased circulating aldosterone level","HP:0002924"]
["Elevated circulating thyroid-stimulating hormone concentration","HP:0002925"]
["Abnormality of thyroid physiology","HP:0002926"]
["Histidinuria","HP:0002927"]
["Decreased activity of the pyruvate dehydrogenase complex","HP:0002928"]
["Leydig cell insensitivity to gonadotropin","HP:0002929"]
["Impaired sensitivity to thyroid hormone","HP:0002930"]
["Aldehyde oxidase deficiency","HP:0002932"]
["Ventral hernia","HP:0002933"]
["Distal sensory impairment","HP:0002936"]
["Hemivertebrae","HP:0002937"]
["Lumbar hyperlordosis","HP:0002938"]
["Thoracic kyphosis","HP:0002942"]
["Thoracic scoliosis","HP:0002943"]
["Thoracolumbar scoliosis","HP:0002944"]
["Intervertebral space narrowing","HP:0002945"]
["Supernumerary vertebrae","HP:0002946"]
["Cervical kyphosis","HP:0002947"]
["Vertebral fusion","HP:0002948"]
["Fused cervical vertebrae","HP:0002949"]
["Partial absence of cerebellar vermis","HP:0002951"]
["Vertebral compression fracture","HP:0002953"]
["Granulomatosis","HP:0002955"]
["Immune dysregulation","HP:0002958"]
["Impaired Ig class switch recombination","HP:0002959"]
["Autoimmunity","HP:0002960"]
["Dysgammaglobulinemia","HP:0002961"]
["Abnormal delayed hypersensitivity skin test","HP:0002963"]
["Cutaneous anergy","HP:0002965"]
["Cubitus valgus","HP:0002967"]
["Genu varum","HP:0002970"]
["Absent microvilli on the surface of peripheral blood lymphocytes","HP:0002971"]
["Reduced delayed hypersensitivity","HP:0002972"]
["Abnormality of the forearm","HP:0002973"]
["Radioulnar synostosis","HP:0002974"]
["Aplasia/Hypoplasia involving the central nervous system","HP:0002977"]
["Bowing of the legs","HP:0002979"]
["Femoral bowing","HP:0002980"]
["Abnormality of the calf","HP:0002981"]
["Tibial bowing","HP:0002982"]
["Micromelia","HP:0002983"]
["Hypoplasia of the radius","HP:0002984"]
["Radial bowing","HP:0002986"]
["Elbow flexion contracture","HP:0002987"]
["Fibular aplasia","HP:0002990"]
["Abnormality of fibula morphology","HP:0002991"]
["Abnormality of tibia morphology","HP:0002992"]
["Limited elbow movement","HP:0002996"]
["Abnormality of the ulna","HP:0002997"]
["Patellar dislocation","HP:0002999"]
["Glomus jugular tumor","HP:0003001"]
["Breast carcinoma","HP:0003002"]
["Colon cancer","HP:0003003"]
["Ganglioneuroma","HP:0003005"]
["Neuroblastoma","HP:0003006"]
["Enhanced neurotoxicity of vincristine","HP:0003009"]
["Prolonged bleeding time","HP:0003010"]
["Abnormality of the musculature","HP:0003011"]
["Bulging epiphyses","HP:0003013"]
["Flared metaphysis","HP:0003015"]
["Metaphyseal widening","HP:0003016"]
["Abnormality of the wrist","HP:0003019"]
["Enlargement of the wrists","HP:0003020"]
["Metaphyseal cupping","HP:0003021"]
["Hypoplasia of the ulna","HP:0003022"]
["Bowing of limbs due to multiple fractures","HP:0003023"]
["Metaphyseal irregularity","HP:0003025"]
["Short long bone","HP:0003026"]
["Mesomelia","HP:0003027"]
["Abnormality of the ankles","HP:0003028"]
["Enlargement of the ankles","HP:0003029"]
["Ulnar bowing","HP:0003031"]
["Diaphyseal sclerosis","HP:0003034"]
["Enlarged joints","HP:0003037"]
["Fibular hypoplasia","HP:0003038"]
["Arthropathy","HP:0003040"]
["Humeroradial synostosis","HP:0003041"]
["Elbow dislocation","HP:0003042"]
["Abnormal shoulder morphology","HP:0003043"]
["Shoulder flexion contracture","HP:0003044"]
["Abnormal patella morphology","HP:0003045"]
["Radial head subluxation","HP:0003048"]
["Ulnar deviation of the wrist","HP:0003049"]
["Enlarged metaphyses","HP:0003051"]
["Epiphyseal deformities of tubular bones","HP:0003053"]
["Tetraamelia","HP:0003057"]
["Abnormality of the radioulnar joints","HP:0003059"]
["Abnormality of the humerus","HP:0003063"]
["Patellar hypoplasia","HP:0003065"]
["Limited knee extension","HP:0003066"]
["Madelung deformity","HP:0003067"]
["Madelung-like forearm deformities","HP:0003068"]
["Elbow ankylosis","HP:0003070"]
["Flattened epiphysis","HP:0003071"]
["Hypercalcemia","HP:0003072"]
["Hypoalbuminemia","HP:0003073"]
["Hyperglycemia","HP:0003074"]
["Hypoproteinemia","HP:0003075"]
["Glycosuria","HP:0003076"]
["Hyperlipidemia","HP:0003077"]
["Defective DNA repair after ultraviolet radiation damage","HP:0003079"]
["Hydroxyprolinuria","HP:0003080"]
["Increased urinary potassium","HP:0003081"]
["Dislocated radial head","HP:0003083"]
["Fractures of the long bones","HP:0003084"]
["Long fibula","HP:0003085"]
["Acromesomelia","HP:0003086"]
["Premature osteoarthritis","HP:0003088"]
["Hamstring contractures","HP:0003089"]
["Hypoplasia of the capital femoral epiphysis","HP:0003090"]
["Trophic limb changes","HP:0003091"]
["Limited hip extension","HP:0003093"]
["Septic arthritis","HP:0003095"]
["Short femur","HP:0003097"]
["Fibular overgrowth","HP:0003099"]
["Slender long bone","HP:0003100"]
["Increased carrying angle","HP:0003102"]
["Abnormal cortical bone morphology","HP:0003103"]
["Protuberances at ends of long bones","HP:0003105"]
["Subperiosteal bone resorption","HP:0003106"]
["Abnormal circulating cholesterol concentration","HP:0003107"]
["Hyperglycinuria","HP:0003108"]
["Hyperphosphaturia","HP:0003109"]
["Abnormality of urine homeostasis","HP:0003110"]
["Abnormal blood ion concentration","HP:0003111"]
["Abnormal circulating amino acid concentration","HP:0003112"]
["Hypochloremia","HP:0003113"]
["obsolete Abnormal cardiological findings","HP:0003114"]
["Abnormal EKG","HP:0003115"]
["Abnormal echocardiogram","HP:0003116"]
["Abnormal circulating hormone concentration","HP:0003117"]
["Increased circulating cortisol level","HP:0003118"]
["Abnormal circulating lipid concentration","HP:0003119"]
["Limb joint contracture","HP:0003121"]
["Hypercholesterolemia","HP:0003124"]
["Reduced factor VIII activity","HP:0003125"]
["Low-molecular-weight proteinuria","HP:0003126"]
["Hypocalciuria","HP:0003127"]
["Lactic acidosis","HP:0003128"]
["Abnormal peripheral myelination","HP:0003130"]
["Cystinuria","HP:0003131"]
["Abnormality of the spinocerebellar tracts","HP:0003133"]
["Abnormality of peripheral nerve conduction","HP:0003134"]
["Prolinuria","HP:0003137"]
["Increased blood urea nitrogen","HP:0003138"]
["Panhypogammaglobulinemia","HP:0003139"]
["T-wave inversion in the right precordial leads","HP:0003140"]
["Increased LDL cholesterol concentration","HP:0003141"]
["Excessive purine production","HP:0003142"]
["Increased serum serotonin","HP:0003144"]
["Decreased adenosylcobalamin","HP:0003145"]
["Hypocholesterolemia","HP:0003146"]
["Elevated serum acid phosphatase","HP:0003148"]
["Hyperuricosuria","HP:0003149"]
["Glutaric aciduria","HP:0003150"]
["obsolete Increased serum 1,25-dihydroxyvitamin D3","HP:0003152"]
["Cystathioninuria","HP:0003153"]
["Increased circulating ACTH level","HP:0003154"]
["Elevated circulating alkaline phosphatase concentration","HP:0003155"]
["Hyposthenuria","HP:0003158"]
["Hyperoxaluria","HP:0003159"]
["Abnormal isoelectric focusing of serum transferrin","HP:0003160"]
["4-Hydroxyphenylpyruvic aciduria","HP:0003161"]
["Fasting hypoglycemia","HP:0003162"]
["Elevated urinary delta-aminolevulinic acid","HP:0003163"]
["Hypothalamic gonadotropin-releasing hormone deficiency","HP:0003164"]
["Elevated circulating parathyroid hormone level","HP:0003165"]
["Increased urinary taurine","HP:0003166"]
["Carnosinuria","HP:0003167"]
["Dibasicaminoaciduria","HP:0003168"]
["Abnormal acetabulum morphology","HP:0003170"]
["Abnormality of the pubic bone","HP:0003172"]
["Hypoplastic pubic bone","HP:0003173"]
["Abnormality of the ischium","HP:0003174"]
["Hypoplastic ischia","HP:0003175"]
["Squared iliac bones","HP:0003177"]
["Protrusio acetabuli","HP:0003179"]
["Flat acetabular roof","HP:0003180"]
["Shallow acetabular fossae","HP:0003182"]
["Wide pubic symphysis","HP:0003183"]
["Decreased hip abduction","HP:0003184"]
["Short greater sciatic notch","HP:0003185"]
["Inverted nipples","HP:0003186"]
["Breast hypoplasia","HP:0003187"]
["Long nose","HP:0003189"]
["Cleft ala nasi","HP:0003191"]
["Allergic rhinitis","HP:0003193"]
["Short nasal bridge","HP:0003194"]
["Short nose","HP:0003196"]
["Myopathy","HP:0003198"]
["Decreased muscle mass","HP:0003199"]
["Ragged-red muscle fibers","HP:0003200"]
["Rhabdomyolysis","HP:0003201"]
["Skeletal muscle atrophy","HP:0003202"]
["Impaired oxidative burst","HP:0003203"]
["Intracellular accumulation of autofluorescent lipopigment storage material","HP:0003204"]
["Curvilinear intracellular accumulation of autofluorescent lipopigment storage material","HP:0003205"]
["Decreased activity of NADPH oxidase","HP:0003206"]
["Arterial calcification","HP:0003207"]
["Fingerprint intracellular accumulation of autofluorescent lipopigment storage material","HP:0003208"]
["Decreased pyruvate carboxylase activity","HP:0003209"]
["Decreased methylmalonyl-CoA mutase activity","HP:0003210"]
["Increased circulating IgE level","HP:0003212"]
["Deficient excision of UV-induced pyrimidine dimers in DNA","HP:0003213"]
["Prolonged G2 phase of cell cycle","HP:0003214"]
["Dicarboxylic aciduria","HP:0003215"]
["Generalized amyloid deposition","HP:0003216"]
["Hyperglutaminemia","HP:0003217"]
["Oroticaciduria","HP:0003218"]
["Ethylmalonic aciduria","HP:0003219"]
["Abnormality of chromosome stability","HP:0003220"]
["Chromosomal breakage induced by crosslinking agents","HP:0003221"]
["Decreased methylcobalamin","HP:0003223"]
["Increased cellular sensitivity to UV light","HP:0003224"]
["Reduced coagulation factor V activity","HP:0003225"]
["Rectilinear intracellular accumulation of autofluorescent lipopigment storage material","HP:0003226"]
["Hypernatremia","HP:0003228"]
["Hypertyrosinemia","HP:0003231"]
["Mitochondrial malic enzyme reduced","HP:0003232"]
["Decreased HDL cholesterol concentration","HP:0003233"]
["Decreased plasma carnitine","HP:0003234"]
["Hypermethioninemia","HP:0003235"]
["Elevated circulating creatine kinase concentration","HP:0003236"]
["Increased circulating IgG level","HP:0003237"]
["Hyperpepsinogenemia I","HP:0003238"]
["Phosphoethanolaminuria","HP:0003239"]
["Increased phosphoribosylpyrophosphate synthetase level","HP:0003240"]
["External genital hypoplasia","HP:0003241"]
["Penile hypospadias","HP:0003244"]
["Prominent scrotal raphe","HP:0003246"]
["Overgrowth of external genitalia","HP:0003247"]
["Gonadal tissue inappropriate for external genitalia or chromosomal sex","HP:0003248"]
["Genital ulcers","HP:0003249"]
["Aplasia of the vagina","HP:0003250"]
["Male infertility","HP:0003251"]
["Anteriorly displaced genitalia","HP:0003252"]
["Abnormality of DNA repair","HP:0003254"]
["Abnormality of the coagulation cascade","HP:0003256"]
["Glyoxalase deficiency","HP:0003258"]
["Elevated circulating creatinine concentration","HP:0003259"]
["Hydroxyprolinemia","HP:0003260"]
["Increased circulating IgA level","HP:0003261"]
["Smooth muscle antibody positivity","HP:0003262"]
["Deficiency of N-acetylglucosamine-1-phosphotransferase","HP:0003264"]
["Neonatal hyperbilirubinemia","HP:0003265"]
["Reduced orotidine 5-prime phosphate decarboxylase level","HP:0003267"]
["Argininuria","HP:0003268"]
["Sudanophilic leukodystrophy","HP:0003269"]
["Abdominal distention","HP:0003270"]
["Visceromegaly","HP:0003271"]
["Abnormal hip bone morphology","HP:0003272"]
["Hip contracture","HP:0003273"]
["Hypoplastic acetabulae","HP:0003274"]
["Narrow pelvis bone","HP:0003275"]
["Pelvic bone exostoses","HP:0003276"]
["Constricted iliac wing","HP:0003277"]
["Square pelvis bone","HP:0003278"]
["Coxa magna","HP:0003279"]
["Increased circulating ferritin concentration","HP:0003281"]
["Low alkaline phosphatase","HP:0003282"]
["Cystathioninemia","HP:0003286"]
["Abnormality of mitochondrial metabolism","HP:0003287"]
["Mitochondrial propionyl-CoA carboxylase defect","HP:0003288"]
["Decreased serum leptin","HP:0003292"]
["obsolete Impaired FSH and LH secretion","HP:0003295"]
["Hyperthreoninuria","HP:0003296"]
["Hyperlysinuria","HP:0003297"]
["Spina bifida occulta","HP:0003298"]
["Ovoid vertebral bodies","HP:0003300"]
["Irregular vertebral endplates","HP:0003301"]
["Spondylolisthesis","HP:0003302"]
["Spondylolysis","HP:0003304"]
["Block vertebrae","HP:0003305"]
["Spinal rigidity","HP:0003306"]
["Hyperlordosis","HP:0003307"]
["Cervical subluxation","HP:0003308"]
["Ovoid thoracolumbar vertebrae","HP:0003309"]
["Abnormality of the odontoid process","HP:0003310"]
["Hypoplasia of the odontoid process","HP:0003311"]
["Abnormal form of the vertebral bodies","HP:0003312"]
["Butterfly vertebrae","HP:0003316"]
["Cervical spine hypermobility","HP:0003318"]
["Abnormality of the cervical spine","HP:0003319"]
["C1-C2 subluxation","HP:0003320"]
["Biconcave flattened vertebrae","HP:0003321"]
["Progressive muscle weakness","HP:0003323"]
["Generalized muscle weakness","HP:0003324"]
["Limb-girdle muscle weakness","HP:0003325"]
["Myalgia","HP:0003326"]
["Axial muscle weakness","HP:0003327"]
["Abnormal hair laboratory examination","HP:0003328"]
["Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes","HP:0003329"]
["Abnormal bone structure","HP:0003330"]
["Absent primary metaphyseal spongiosa","HP:0003332"]
["Increased serum beta-hexosaminidase","HP:0003333"]
["Elevated circulating catecholamine level","HP:0003334"]
["obsolete Low gonadotropins (secondary hypogonadism)","HP:0003335"]
["Abnormal enchondral ossification","HP:0003336"]
["Reduced prothrombin consumption","HP:0003337"]
["Focal necrosis of right ventricular muscle cells","HP:0003338"]
["Pyrimidine-responsive megaloblastic anemia","HP:0003339"]
["obsolete Abnormal dermatological laboratory findings","HP:0003340"]
["Subepidermal blistering with cleavage in the lamina lucida","HP:0003341"]
["Reduced glutathione synthetase level","HP:0003343"]
["3-Methylglutaric aciduria","HP:0003344"]
["Elevated urinary norepinephrine","HP:0003345"]
["Impaired lymphocyte transformation with phytohemagglutinin","HP:0003347"]
["Hyperalaninemia","HP:0003348"]
["Low cholesterol esterification rate","HP:0003349"]
["Decreased circulating renin level","HP:0003351"]
["Endopolyploidy on chromosome studies of bone marrow","HP:0003352"]
["Propionyl-CoA carboxylase deficiency","HP:0003353"]
["Hyperthreoninemia","HP:0003354"]
["Aminoaciduria","HP:0003355"]
["Thymic hormone decreased","HP:0003357"]
["Elevated intracellular cystine","HP:0003358"]
["Decreased urinary sulfate","HP:0003359"]
["Tryptophanuria","HP:0003361"]
["Increased VLDL cholesterol concentration","HP:0003362"]
["Abdominal situs inversus","HP:0003363"]
["Arthralgia of the hip","HP:0003365"]
["Abnormal femoral neck/head morphology","HP:0003366"]
["Abnormal femoral neck morphology","HP:0003367"]
["Abnormal femoral head morphology","HP:0003368"]
["Flat capital femoral epiphysis","HP:0003370"]
["Enlargement of the proximal femoral epiphysis","HP:0003371"]
["Narrow greater sciatic notch","HP:0003375"]
["Steppage gait","HP:0003376"]
["Axonal degeneration/regeneration","HP:0003378"]
["Decreased number of peripheral myelinated nerve fibers","HP:0003380"]
["Hypertrophic nerve changes","HP:0003382"]
["Onion bulb formation","HP:0003383"]
["Peripheral axonal atrophy","HP:0003384"]
["Decreased number of large peripheral myelinated nerve fibers","HP:0003387"]
["Easy fatigability","HP:0003388"]
["Sensory axonal neuropathy","HP:0003390"]
["Gowers sign","HP:0003391"]
["First dorsal interossei muscle weakness","HP:0003392"]
["Thenar muscle atrophy","HP:0003393"]
["Muscle spasm","HP:0003394"]
["Syringomyelia","HP:0003396"]
["Generalized hypotonia due to defect at the neuromuscular junction","HP:0003397"]
["Abnormal synaptic transmission at the neuromuscular junction","HP:0003398"]
["Basal lamina onion bulb formation","HP:0003400"]
["Paresthesia","HP:0003401"]
["Decreased miniature endplate potentials","HP:0003402"]
["EMG: decremental response of compound muscle action potential to repetitive nerve stimulation","HP:0003403"]
["Diffuse axonal swelling","HP:0003405"]
["Peripheral nerve compression","HP:0003406"]
["Distal sensory impairment of all modalities","HP:0003409"]
["Proximal femoral metaphyseal irregularity","HP:0003411"]
["Atlantoaxial abnormality","HP:0003413"]
["Atlantoaxial dislocation","HP:0003414"]
["Spinal canal stenosis","HP:0003416"]
["Coronal cleft vertebrae","HP:0003417"]
["Back pain","HP:0003418"]
["Low back pain","HP:0003419"]
["obsolete Platyspondyly (childhood)","HP:0003421"]
["Vertebral segmentation defect","HP:0003422"]
["Thoracolumbar kyphoscoliosis","HP:0003423"]
["First dorsal interossei muscle atrophy","HP:0003426"]
["Thenar muscle weakness","HP:0003427"]
["CNS hypomyelination","HP:0003429"]
["Decreased motor nerve conduction velocity","HP:0003431"]
["Sensory ataxic neuropathy","HP:0003434"]
["Cold-induced hand cramps","HP:0003435"]
["Prolonged miniature endplate currents","HP:0003436"]
["Absent Achilles reflex","HP:0003438"]
["Horizontal sacrum","HP:0003440"]
["Decreased size of nerve terminals","HP:0003443"]
["EMG: chronic denervation signs","HP:0003444"]
["EMG: neuropathic changes","HP:0003445"]
["Axonal loss","HP:0003447"]
["Decreased sensory nerve conduction velocity","HP:0003448"]
["Cold-induced muscle cramps","HP:0003449"]
["Axonal regeneration","HP:0003450"]
["Increased rate of premature chromosome condensation","HP:0003451"]
["Increased serum iron","HP:0003452"]
["Antineutrophil antibody positivity","HP:0003453"]
["Platelet antibody positive","HP:0003454"]
["Elevated circulating long chain fatty acid concentration","HP:0003455"]
["Low urinary cyclic AMP response to PTH administration","HP:0003456"]
["EMG abnormality","HP:0003457"]
["EMG: myopathic abnormalities","HP:0003458"]
["Polyclonal elevation of IgM","HP:0003459"]
["Decreased circulating total IgA","HP:0003460"]
["Increased urinary O-linked sialopeptides","HP:0003461"]
["Elevated 8-dehydrocholesterol","HP:0003462"]
["Increased extraneuronal autofluorescent lipopigment","HP:0003463"]
["obsolete Abnormal cholesterol homeostasis","HP:0003464"]
["Elevated 8(9)-cholestenol","HP:0003465"]
["Paradoxical increased cortisol secretion on dexamethasone suppression test","HP:0003466"]
["Atlantoaxial instability","HP:0003467"]
["Abnormal vertebral morphology","HP:0003468"]
["Peripheral dysmyelination","HP:0003469"]
["Paralysis","HP:0003470"]
["Hypocalcemic tetany","HP:0003472"]
["Fatigable weakness","HP:0003473"]
["Somatic sensory dysfunction","HP:0003474"]
["Peripheral axonal neuropathy","HP:0003477"]
["Segmental peripheral demyelination/remyelination","HP:0003481"]
["EMG: axonal abnormality","HP:0003482"]
["Upper limb muscle weakness","HP:0003484"]
["Babinski sign","HP:0003487"]
["Acute episodes of neuropathic symptoms","HP:0003489"]
["obsolete Defective dehydrogenation of isovaleryl CoA and butyryl CoA","HP:0003490"]
["Elevated urine pyrophosphate","HP:0003491"]
["High urinary gonadotropin level","HP:0003492"]
["Antinuclear antibody positivity","HP:0003493"]
["obsolete Loss of heterozygosity, multiple chromosomes","HP:0003494"]
["GM2-ganglioside accumulation","HP:0003495"]
["Increased circulating IgM level","HP:0003496"]
["Disproportionate short stature","HP:0003498"]
["Mild short stature","HP:0003502"]
["Proportionate short stature","HP:0003508"]
["Severe short stature","HP:0003510"]
["Reduced ratio of renal calcium clearance to creatinine clearance","HP:0003513"]
["Deficiency or absence of cytochrome b(-245)","HP:0003514"]
["Birth length greater than 97th percentile","HP:0003517"]
["Disproportionate short-trunk short stature","HP:0003521"]
["Decreased methionine synthase activity","HP:0003524"]
["Orotic acid crystalluria","HP:0003526"]
["Hyperprostaglandinuria","HP:0003527"]
["Elevated calcitonin","HP:0003528"]
["Parathormone-independent increased renal tubular calcium reabsorption","HP:0003529"]
["Elevated circulating glutaric acid concentration","HP:0003530"]
["Ornithinuria","HP:0003532"]
["Reduced acetaldehyde dehydrogenase level","HP:0003533"]
["Reduced xanthine dehydrogenase level","HP:0003534"]
["3-Methylglutaconic aciduria","HP:0003535"]
["Decreased fumarate hydratase activity","HP:0003536"]
["Hypouricemia","HP:0003537"]
["Increased serum iduronate sulfatase level","HP:0003538"]
["Impaired platelet aggregation","HP:0003540"]
["Urinary glycosaminoglycan excretion","HP:0003541"]
["Increased serum pyruvate","HP:0003542"]
["Exercise intolerance","HP:0003546"]
["Shoulder girdle muscle weakness","HP:0003547"]
["Subsarcolemmal accumulations of abnormally shaped mitochondria","HP:0003548"]
["Abnormality of connective tissue","HP:0003549"]
["Predominantly lower limb lymphedema","HP:0003550"]
["Difficulty climbing stairs","HP:0003551"]
["Muscle stiffness","HP:0003552"]
["obsolete Cellulitis due to immunodeficiency","HP:0003553"]
["Type 2 muscle fiber atrophy","HP:0003554"]
["Muscle fiber splitting","HP:0003555"]
["Increased variability in muscle fiber diameter","HP:0003557"]
["Viral infection-induced rhabdomyolysis","HP:0003558"]
["Muscle hyperirritability","HP:0003559"]
["Muscular dystrophy","HP:0003560"]
["Birth length less than 3rd percentile","HP:0003561"]
["Abnormal metaphyseal vascular invasion","HP:0003562"]
["Decreased LDL cholesterol concentration","HP:0003563"]
["Folate-dependent fragile site at Xq28","HP:0003564"]
["Elevated erythrocyte sedimentation rate","HP:0003565"]
["Increased serum prostaglandin E2","HP:0003566"]
["Decreased glucosephosphate isomerase level","HP:0003568"]
["Molybdenum cofactor deficiency","HP:0003570"]
["Propionic acidemia","HP:0003571"]
["Low plasma citrulline","HP:0003572"]
["Increased total bilirubin","HP:0003573"]
["Positive regitine blocking test","HP:0003574"]
["Increased intracellular sodium","HP:0003575"]
["Congenital onset","HP:0003577"]
["Adult onset","HP:0003581"]
["Late onset","HP:0003584"]
["Insidious onset","HP:0003587"]
["Infantile onset","HP:0003593"]
["Middle age onset","HP:0003596"]
["Absent urinary urothione","HP:0003606"]
["4-hydroxyphenylacetic aciduria","HP:0003607"]
["Foam cells with lamellar inclusion bodies","HP:0003609"]
["Fibroblast metachromasia","HP:0003610"]
["Positive ferric chloride test","HP:0003612"]
["Antiphospholipid antibody positivity","HP:0003613"]
["Trimethylaminuria","HP:0003614"]
["Premature separation of centromeric heterochromatin","HP:0003616"]
["Juvenile onset","HP:0003621"]
["Neonatal onset","HP:0003623"]
["Amyoplasia","HP:0003634"]
["Loss of subcutaneous adipose tissue in limbs","HP:0003635"]
["Reduced 4-Hydroxyphenylpyruvate dioxygenase level","HP:0003637"]
["Elevated urinary epinephrine","HP:0003639"]
["Foam cells in visceral organs and CNS","HP:0003640"]
["Hemoglobinuria","HP:0003641"]
["Type I transferrin isoform profile","HP:0003642"]
["Sulfite oxidase deficiency","HP:0003643"]
["Prolonged partial thromboplastin time","HP:0003645"]
["Bicarbonaturia","HP:0003646"]
["Electron transfer flavoprotein-ubiquinone oxidoreductase defect","HP:0003647"]
["Lacticaciduria","HP:0003648"]
["Abnormality of glycoside metabolism","HP:0003649"]
["Foam cells","HP:0003651"]
["Recurrent myoglobinuria","HP:0003652"]
["Cellular metachromasia","HP:0003653"]
["Reduced dihydropyrimidine dehydrogenase level","HP:0003654"]
["Reduced level of N-acetylglucosaminyltransferase II","HP:0003655"]
["Decreased beta-glucocerebrosidase level","HP:0003656"]
["Granular osmiophilic deposits (GROD) in cells","HP:0003657"]
["Hypomethioninemia","HP:0003658"]
["Amyotrophy of the musculature of the pelvis","HP:0003665"]
["Onset","HP:0003674"]
["Progressive","HP:0003676"]
["Slowly progressive","HP:0003677"]
["Rapidly progressive","HP:0003678"]
["Pace of progression","HP:0003679"]
["Nonprogressive","HP:0003680"]
["Variable progression rate","HP:0003682"]
["Large beaked nose","HP:0003683"]
["Centrally nucleated skeletal muscle fibers","HP:0003687"]
["Cytochrome C oxidase-negative muscle fibers","HP:0003688"]
["Multiple mitochondrial DNA deletions","HP:0003689"]
["Limb muscle weakness","HP:0003690"]
["Scapular winging","HP:0003691"]
["Distal amyotrophy","HP:0003693"]
["Late-onset proximal muscle weakness","HP:0003694"]
["Absent epiphysis of the distal phalanx of the 5th finger","HP:0003696"]
["Scapuloperoneal amyotrophy","HP:0003697"]
["Difficulty standing","HP:0003698"]
["Generalized amyotrophy","HP:0003700"]
["Proximal muscle weakness","HP:0003701"]
["Scapuloperoneal weakness","HP:0003704"]
["Calf muscle pseudohypertrophy","HP:0003707"]
["Exercise-induced muscle cramps","HP:0003710"]
["Skeletal muscle hypertrophy","HP:0003712"]
["Muscle fiber necrosis","HP:0003713"]
["Myofibrillar myopathy","HP:0003715"]
["Generalized muscular appearance from birth","HP:0003716"]
["Minimal subcutaneous fat","HP:0003717"]
["Muscle mounding","HP:0003719"]
["Generalized muscle hypertrophy","HP:0003720"]
["Neck flexor weakness","HP:0003722"]
["Shoulder girdle muscle atrophy","HP:0003724"]
["Firm muscles","HP:0003725"]
["Enteroviral dermatomyositis syndrome","HP:0003729"]
["EMG: myotonic runs","HP:0003730"]
["Quadriceps muscle weakness","HP:0003731"]
["Thigh hypertrophy","HP:0003733"]
["Autophagic vacuoles","HP:0003736"]
["Mitochondrial myopathy","HP:0003737"]
["Exercise-induced myalgia","HP:0003738"]
["Myoclonic spasms","HP:0003739"]
["Myotonia with warm-up phenomenon","HP:0003740"]
["Congenital muscular dystrophy","HP:0003741"]
["Genetic anticipation","HP:0003743"]
["Genetic anticipation with paternal anticipation bias","HP:0003744"]
["Sporadic","HP:0003745"]
["Pelvic girdle muscle weakness","HP:0003749"]
["Increased muscle fatiguability","HP:0003750"]
["Episodic flaccid weakness","HP:0003752"]
["Type 1 fibers relatively smaller than type 2 fibers","HP:0003755"]
["Skeletal myopathy","HP:0003756"]
["Reduced subcutaneous adipose tissue","HP:0003758"]
["Hypoplasia of lymphatic vessels","HP:0003759"]
["Percussion-induced rapid rolling muscle contractions","HP:0003760"]
["Calcinosis","HP:0003761"]
["Uterus didelphys","HP:0003762"]
["Bruxism","HP:0003763"]
["Nevus","HP:0003764"]
["Psoriasiform dermatitis","HP:0003765"]
["Periodic paralysis","HP:0003768"]
["Pulp calcification","HP:0003771"]
["Stage 5 chronic kidney disease","HP:0003774"]
["Pili torti","HP:0003777"]
["Short mandibular rami","HP:0003778"]
["Antegonial notching of mandible","HP:0003779"]
["Excessive salivation","HP:0003781"]
["Eunuchoid habitus","HP:0003782"]
["Externally rotated/abducted legs","HP:0003783"]
["Type 1 collagen overmodification","HP:0003784"]
["Decreased CSF homovanillic acid","HP:0003785"]
["Type 1 and type 2 muscle fiber minicore regions","HP:0003787"]
["Minicore myopathy","HP:0003789"]
["Deposits immunoreactive to beta-amyloid protein","HP:0003791"]
["Short middle phalanx of toe","HP:0003795"]
["Irregular iliac crest","HP:0003796"]
["Limb-girdle muscle atrophy","HP:0003797"]
["Nemaline bodies","HP:0003798"]
["Marked delay in bone age","HP:0003799"]
["Muscle abnormality related to mitochondrial dysfunction","HP:0003800"]
["Type 1 muscle fiber predominance","HP:0003803"]
["Rimmed vacuoles","HP:0003805"]
["Abnormal muscle tone","HP:0003808"]
["Reduced intrathoracic adipose tissue","HP:0003809"]
["Late-onset distal muscle weakness","HP:0003810"]
["Neonatal death","HP:0003811"]
["Phenotypic variability","HP:0003812"]
["Death in childhood","HP:0003819"]
["Stillbirth","HP:0003826"]
["Variable expressivity","HP:0003828"]
["Incomplete penetrance","HP:0003829"]
["Age-dependent penetrance","HP:0003831"]
["Abnormality of the tibial plateaux","HP:0003832"]
["Laterally deficient tibial plateaux","HP:0003833"]
["Shoulder dislocation","HP:0003834"]
["Shoulder subluxation","HP:0003835"]
["Stippled calcification of the shoulder","HP:0003836"]
["Soft-tissue ossification around the shoulders","HP:0003837"]
["Abnormality of upper limb epiphysis morphology","HP:0003839"]
["Delayed upper limb epiphyseal ossification","HP:0003840"]
["Fragmented epiphyses of the upper limbs","HP:0003841"]
["Irregular epiphyses of the upper limbs","HP:0003842"]
["Round epiphyses of the upper limbs","HP:0003843"]
["Small epiphyses of the upper limbs","HP:0003844"]
["Wide epiphyseal plates of the upper limbs","HP:0003846"]
["Cupped metaphyses of the upper limbs","HP:0003848"]
["Flared upper limb metaphysis","HP:0003849"]
["Upper-limb metaphyseal irregularity","HP:0003850"]
["Lytic defects in metaphyses of the upper limbs","HP:0003851"]
["Normal density transverse bands in metaphyses of the upper limbs","HP:0003852"]
["Sclerosis with transverse striations in metaphyses of the upper limbs","HP:0003853"]
["Sclerosis of metaphyses of the upper limbs","HP:0003854"]
["Spurred metaphyses of the upper limbs","HP:0003855"]
["Upper limb metaphyseal widening","HP:0003856"]
["Cortical diaphyseal irregularity of the upper limbs","HP:0003858"]
["Cortical diaphyseal thickening of the upper limbs","HP:0003859"]
["Diaphyseal sclerosis of the upper limbs","HP:0003860"]
["Broad diaphyses of the upper limbs","HP:0003861"]
["Absent humerus","HP:0003862"]
["Angulated humerus","HP:0003863"]
["Bifid humerus","HP:0003864"]
["Bowed humerus","HP:0003865"]
["Coarse humeral trabeculae","HP:0003866"]
["Humeral cortical irregularity","HP:0003867"]
["Humeral cortical thickening","HP:0003868"]
["Humeral cortical thinning","HP:0003869"]
["Crumpled humerus","HP:0003870"]
["Deformed humerus","HP:0003871"]
["Humeral exostoses","HP:0003872"]
["Humerus varus","HP:0003874"]
["Humeral lytic defects","HP:0003875"]
["Osteoporotic humerus","HP:0003876"]
["Oval transradiancy of humerus","HP:0003877"]
["Periosteal new bone of humerus","HP:0003878"]
["Humeral pseudarthrosis","HP:0003879"]
["Sclerotic foci of the humerus","HP:0003880"]
["Humeral sclerosis","HP:0003881"]
["Slender humerus","HP:0003882"]
["Tapered humerus","HP:0003883"]
["Triangular humerus","HP:0003884"]
["Undermodeled humerus","HP:0003885"]
["Wide humerus","HP:0003886"]
["Abnormality of the humeral heads","HP:0003887"]
["Flattened humeral heads","HP:0003888"]
["Abnormality of the deltoid tuberosities","HP:0003889"]
["Prominent deltoid tuberosities","HP:0003890"]
["Abnormality of the humeral epiphysis","HP:0003891"]
["Absent humeral epiphyseal ossification","HP:0003892"]
["Advanced ossification of the humeral epiphysis","HP:0003893"]
["Delayed humeral epiphyseal ossification","HP:0003894"]
["Flattened humeral epiphyses","HP:0003895"]
["Irregular humeral epiphyses","HP:0003896"]
["Irregular ossification of the humeral epiphyses","HP:0003897"]
["Large humeral epiphyses","HP:0003898"]
["Round humeral epiphyses","HP:0003899"]
["Small humeral epiphyses","HP:0003900"]
["Stippled calcification of the humeral epiphyses","HP:0003901"]
["Epiphyseal stippling of the humerus","HP:0003902"]
["Broad humeral epiphyses","HP:0003903"]
["Wide epiphyses of the upper limbs","HP:0003904"]
["Abnormality of the humeral epiphyseal plate","HP:0003905"]
["Broad humeral epiphyseal plate","HP:0003906"]
["Abnormality of the humeral metaphyses","HP:0003907"]
["Corner fracture of metaphysis","HP:0003908"]
["Cortical subperiosteal resorption of humeral metaphyses","HP:0003909"]
["Enlarged humeral metaphyses","HP:0003910"]
["Flared humeral metaphysis","HP:0003911"]
["Frayed humeral metaphyses","HP:0003912"]
["Humeral metaphyseal irregularity","HP:0003913"]
["Irregular ossification of humeral metaphyses","HP:0003914"]
["Lytic defects of the humeral metaphysis","HP:0003915"]
["Normal-density transverse humeral bands","HP:0003916"]
["Pointed humeral metaphysis","HP:0003917"]
["Sclerotic humeral metaphysis","HP:0003918"]
["Sclerotic humeral metaphysis with longitudinal striations","HP:0003919"]
["Sloping humeral metaphysis","HP:0003920"]
["Laterally sloping humeral metaphysis","HP:0003921"]
["Spurred humeral metaphysis","HP:0003922"]
["Square humeral metaphysis","HP:0003923"]
["Stippled calcification of humeral metaphysis","HP:0003924"]
["Abnormality of the humeral diaphysis","HP:0003926"]
["Cortical irregularity of humeral diaphysis","HP:0003927"]
["Cortical thickening of humeral diaphysis","HP:0003928"]
["Ground glass opacity of humeral diaphysis","HP:0003929"]
["Lytic defects of humeral diaphysis","HP:0003930"]
["Periosteal new bone of humeral diaphysis","HP:0003931"]
["Sclerotic foci of humeral diaphysis","HP:0003932"]
["Sclerosis of humeral diaphysis","HP:0003933"]
["Slender humeral diaphysis","HP:0003934"]
["Wide humeral diaphysis","HP:0003935"]
["Synostosis involving the elbow","HP:0003938"]
["Humeroulnar synostosis","HP:0003939"]
["Osteoarthritis of the elbow","HP:0003940"]
["Stippled calcification of the elbow","HP:0003941"]
["Synovial chondromatosis of the elbow","HP:0003942"]
["Abnormality of the joint spaces of the elbow","HP:0003943"]
["Narrow joint spaces of the elbow","HP:0003944"]
["Irregular articular surfaces of the elbow joints","HP:0003945"]
["Abnormality of the epiphyses of the elbow","HP:0003946"]
["Delayed elbow epiphyseal ossification","HP:0003947"]
["Irregular epiphyses of the elbow","HP:0003948"]
["Abnormality of the elbow metaphyses","HP:0003949"]
["Flared elbow metaphyses","HP:0003950"]
["Distal humeral metaphyseal irregularity","HP:0003951"]
["Sclerotic foci of metaphyses of the elbow","HP:0003952"]
["Absent forearm bone","HP:0003953"]
["Angulated forearm bones","HP:0003954"]
["Bone-in-a-bone appearance of forearm","HP:0003955"]
["Bowed forearm bones","HP:0003956"]
["Cortical thickening of the forearm bones","HP:0003957"]
["Cross-fusion of the forearm bones","HP:0003958"]
["Deformed forearm bones","HP:0003959"]
["Exostoses of the forearm bones","HP:0003960"]
["Fractured forearm bones","HP:0003961"]
["Lytic defects of the forearm bones","HP:0003963"]
["Osteoporotic forearm bones","HP:0003964"]
["Pseudarthrosis of the forearm bones","HP:0003965"]
["Sclerotic foci in forearm bones","HP:0003966"]
["Sclerotic forearm bones","HP:0003967"]
["Slender forearm bones","HP:0003969"]
["Undermodelled forearm bones","HP:0003970"]
["Broad forearm bones","HP:0003971"]
["Wide radioulnar joints","HP:0003973"]
["Absent radius","HP:0003974"]
["obsolete Chevron-shaped/cone-shaped radius","HP:0003975"]
["Constricted radius","HP:0003976"]
["Deformed radius","HP:0003977"]
["Fractured radius","HP:0003978"]
["Lytic defects of the radius","HP:0003979"]
["Pseudarthrosis of the radius","HP:0003980"]
["Broad radius","HP:0003981"]
["Aplasia of the ulna","HP:0003982"]
["Posteriorly dislocated ulna","HP:0003984"]
["Exostoses of the ulna","HP:0003985"]
["Exostoses of the radius","HP:0003986"]
["Fractured ulna","HP:0003987"]
["Long ulna","HP:0003988"]
["Notched ulna","HP:0003989"]
["Pointed ulna","HP:0003990"]
["Osteosclerosis of the ulna","HP:0003991"]
["Slender ulna","HP:0003992"]
["Broad ulna","HP:0003993"]
["Dislocated wrist","HP:0003994"]
["Abnormality of the radial head","HP:0003995"]
["Flattened radial head","HP:0003996"]
["Hypoplastic radial head","HP:0003997"]
["Constricted radial neck","HP:0003998"]
["Abnormality of radial epiphyses","HP:0003999"]
["Cone-shaped distal radial epiphysis","HP:0004000"]
["Medially deficient radial epiphyses","HP:0004001"]
["Flattened radial epiphyses","HP:0004002"]
["Medially flattened radial epiphyses","HP:0004003"]
["Irregular radial epiphyses","HP:0004004"]
["Large radial epiphyses","HP:0004005"]
["Round radial epiphyses","HP:0004006"]
["Sclerotic radial epiphyses","HP:0004007"]
["Sloping radial epiphyses","HP:0004008"]
["Medially sloping radial epiphyses","HP:0004009"]
["Small radial epiphyses","HP:0004010"]
["Premature fusion of the radial epiphyseal plates","HP:0004012"]
["Medially fused radial epiphyseal plates","HP:0004013"]
["Broad radial epiphyseal plate","HP:0004014"]
["Abnormality of radial metaphyses","HP:0004015"]
["Cupped radial metaphyses","HP:0004016"]
["Exostoses of the radial metaphysis","HP:0004017"]
["Flared radial metaphysis","HP:0004018"]
["Radial metaphyseal irregularity","HP:0004019"]
["Irregular ossification of the radial metaphysis","HP:0004020"]
["Lytic defects of radial metaphysis","HP:0004021"]
["Sclerotic radial metaphysis with longitudinal striations","HP:0004022"]
["Sloping radial metaphysis","HP:0004023"]
["Medially sloping radial metaphysis","HP:0004024"]
["Spurred radial metaphysis","HP:0004025"]
["Broad radial metaphysis","HP:0004026"]
["Abnormality of radial diaphysis","HP:0004027"]
["Spurs of radial diaphysis","HP:0004028"]
["Lytic defects of radial diaphysis","HP:0004029"]
["Patchy sclerosis of radial diaphysis","HP:0004030"]
["Broad radial diaphysis","HP:0004031"]
["Abnormality of the olecranon","HP:0004032"]
["Curved olecranon","HP:0004033"]
["Irregular olecranon","HP:0004034"]
["Abnormality of the styloid process of ulna","HP:0004035"]
["Long styloid process of ulna","HP:0004036"]
["Abnormality of the ulnar epiphyses","HP:0004037"]
["obsolete Bony spicule of ulnar epiphyseal plate","HP:0004038"]
["Abnormality of ulnar metaphysis","HP:0004039"]
["Corner fragments of ulnar metaphysis","HP:0004040"]
["Cupped ulnar metaphysis","HP:0004041"]
["Ulnar metaphyseal irregularity","HP:0004042"]
["Lytic defects of ulnar metaphysis","HP:0004043"]
["Pointed ulnar metaphysis","HP:0004044"]
["Sloping ulnar metaphysis","HP:0004045"]
["Spurred ulnar metaphysis","HP:0004046"]
["Wide ulnar metaphysis","HP:0004047"]
["Narrow joint spaces of wrist","HP:0004048"]
["Decreased carpal angles of wrist","HP:0004049"]
["Absent hand","HP:0004050"]
["Advanced ossification of the hand bones","HP:0004051"]
["Delayed ossification of the hand bones","HP:0004052"]
["Dysharmonic maturation of the hand bones","HP:0004053"]
["Sclerosis of hand bone","HP:0004054"]
["Mitten deformity","HP:0004057"]
["Hand monodactyly","HP:0004058"]
["Radial club hand","HP:0004059"]
["Trident hand","HP:0004060"]
["obsolete Laterally deviated thumb phalanges","HP:0004066"]
["obsolete Laterally deviated terminal thumb phalanx","HP:0004083"]
["obsolete Advanced maturation/advanced ossification of terminal thumb phalanx epiphysis","HP:0004090"]
["Curved fingers","HP:0004095"]
["Deviation of finger","HP:0004097"]
["Macrodactyly","HP:0004099"]
["Abnormal 2nd finger morphology","HP:0004100"]
["obsolete Radially deviated index finger phalanges","HP:0004110"]
["Midline nasal groove","HP:0004112"]
["obsolete Radially displaced proximal index finger phalanx","HP:0004121"]
["Midline defect of the nose","HP:0004122"]
["Dimple on nasal tip","HP:0004132"]
["obsolete Metaphyseal abnormality of middle phalanx of the 2nd finger","HP:0004138"]
["obsolete Flared metaphysis of middle phalanx of index finger","HP:0004139"]
["obsolete Radially deviated terminal index finger phalanx","HP:0004143"]
["obsolete Duplication of terminal index finger phalanx","HP:0004144"]
["Abnormal 3rd finger morphology","HP:0004150"]
["obsolete Overgrowth of middle finger","HP:0004153"]
["obsolete Accessory middle-finger phalanges","HP:0004157"]
["obsolete Periosteal new bone of middle finger phalanges","HP:0004161"]
["obsolete Radially pointed middle finger phalanges","HP:0004162"]
["obsolete Radially pointed proximal middle-finger phalanx","HP:0004168"]
["Abnormality of the middle phalanx of the 3rd finger","HP:0004172"]
["obsolete Accessory middle phalanx of middle finger","HP:0004174"]
["obsolete Periosteal new bone of middle phalanx of middle-finger","HP:0004175"]
["Short distal phalanx of the 3rd finger","HP:0004180"]
["obsolete Abnormality of the epiphyses of the terminal phalanx of the middle finger","HP:0004183"]
["obsolete Cone-shaped epiphysis of terminal phalanx of the middle finger","HP:0004184"]
["obsolete Fused epiphysis of terminal phalanx of the middle finger","HP:0004185"]
["obsolete Large epiphysis of terminal phalanx of the middle finger","HP:0004186"]
["obsolete Prematurely fused epiphysis of terminal phalanx of the middle finger","HP:0004187"]
["Abnormal 4th finger morphology","HP:0004188"]
["obsolete Bracket epiphyses of the 4th finger","HP:0004192"]
["obsolete Expanded phalanges of the ring finger","HP:0004193"]
["obsolete Hypoplastic phalanges of the ring finger","HP:0004194"]
["Osteolytic defects of the phalanges of the 4th finger","HP:0004195"]
["obsolete Short phalanges of the ring finger","HP:0004196"]
["Symphalangism of the 4th finger","HP:0004197"]
["obsolete Wide/broad phalanges of the ring finger","HP:0004198"]
["obsolete Expanded proximal phalanx of the ring finger","HP:0004201"]
["obsolete Lytic defects of the proximal phalanx of the ring finger","HP:0004202"]
["obsolete Short proximal phalanx of the ring finger","HP:0004203"]
["Abnormal 5th finger morphology","HP:0004207"]
["Clinodactyly of the 5th finger","HP:0004209"]
["Abnormal 5th finger phalanx morphology","HP:0004213"]
["Curved phalanges of the 5th finger","HP:0004214"]
["Osteolytic defects of the phalanges of the 5th finger","HP:0004216"]
["Symphalangism of the 5th finger","HP:0004218"]
["Abnormality of the middle phalanx of the 5th finger","HP:0004219"]
["Short middle phalanx of the 5th finger","HP:0004220"]
["Cone-shaped epiphysis of the distal phalanx of the 5th finger","HP:0004222"]
["Ivory epiphysis of the distal phalanx of the 5th finger","HP:0004223"]
["Abnormality of the epiphysis of the middle phalanx of the 5th finger","HP:0004224"]
["Abnormality of the distal phalanx of the 5th finger","HP:0004225"]
["Curved distal phalanx of the 5th finger","HP:0004226"]
["Short distal phalanx of the 5th finger","HP:0004227"]
["Subluxation of the proximal interphalangeal joint of the little finger","HP:0004230"]
["Carpal bone aplasia","HP:0004231"]
["Accessory carpal bones","HP:0004232"]
["Advanced ossification of carpal bones","HP:0004233"]
["Bone-in-a-bone appearance of carpal bones","HP:0004234"]
["Comma-shaped carpal bones","HP:0004235"]
["Irregular carpal bones","HP:0004236"]
["Large carpal bones","HP:0004237"]
["Lytic defects of carpal bones","HP:0004238"]
["Proximally placed carpal bones","HP:0004239"]
["Sclerotic foci within carpal bones","HP:0004240"]
["Stippled calcification in carpal bones","HP:0004241"]
["Broad carpal bones","HP:0004242"]
["Abnormality of the scaphoid","HP:0004243"]
["Accessory scaphoid","HP:0004244"]
["Comma-shaped scaphoid","HP:0004245"]
["Delayed ossification of the scaphoid","HP:0004246"]
["Small scaphoid","HP:0004247"]
["Abnormality of the lunate bone","HP:0004248"]
["Accessory lunate","HP:0004249"]
["Proximally placed lunate","HP:0004250"]
["Lunate-triquetral fusion","HP:0004251"]
["Abnormality of the trapezium","HP:0004252"]
["Absent trapezium","HP:0004253"]
["Delayed ossification of the trapezium","HP:0004254"]
["Small trapezium","HP:0004255"]
["Abnormality of the trapezoid bone","HP:0004256"]
["Delayed ossification of the trapezoid bone","HP:0004257"]
["Small trapezoid bone","HP:0004258"]
["Abnormality of the hamate bone","HP:0004259"]
["Large hamate bone","HP:0004260"]
["Wide hamate bone","HP:0004261"]
["Abnormality of the capitate bone","HP:0004262"]
["Large capitate bone","HP:0004263"]
["Narrow carpal joint spaces","HP:0004264"]
["Narrow small joints of the hand","HP:0004267"]
["Osteoarthritis of the small joints of the hand","HP:0004268"]
["Subluxation of the small joints of the hand","HP:0004269"]
["Cortical thickening of hand bones","HP:0004271"]
["Cortical thinning of hand bones","HP:0004272"]
["Cupped metaphyses of hand bones","HP:0004273"]
["Deficient ossification of hand bones","HP:0004274"]
["Duplication of hand bones","HP:0004275"]
["Exostoses of hand bones","HP:0004276"]
["Fractured hand bones","HP:0004277"]
["Synostosis involving bones of the hand","HP:0004278"]
["Short palm","HP:0004279"]
["Irregular ossification of hand bones","HP:0004280"]
["Irregular sclerosis of hand bones","HP:0004281"]
["Narrow palm","HP:0004283"]
["Notched hand bones","HP:0004284"]
["Overmodelled hand bones","HP:0004285"]
["Patchy sclerosis of hand bones","HP:0004286"]
["Pointed hand bones","HP:0004287"]
["Pseudoepiphyses of hand bones","HP:0004288"]
["Sclerotic foci in hand bones","HP:0004289"]
["Sclerosis of hand bones with transverse striations","HP:0004290"]
["Stippled calcification of hand bones","HP:0004291"]
["Undermodelled hand bones","HP:0004292"]
["Synostosis of second metacarpal-trapezoid","HP:0004293"]
["Subluxation of metacarpal phalangeal joints","HP:0004294"]
["Abnormality of the gastric mucosa","HP:0004295"]
["Abnormality of gastrointestinal vasculature","HP:0004296"]
["Abnormality of the biliary system","HP:0004297"]
["Abnormality of the abdominal wall","HP:0004298"]
["Hernia of the abdominal wall","HP:0004299"]
["Functional motor deficit","HP:0004302"]
["Abnormal muscle fiber morphology","HP:0004303"]
["Involuntary movements","HP:0004305"]
["Abnormal endocardium morphology","HP:0004306"]
["Abnormal anatomic location of the heart","HP:0004307"]
["Ventricular arrhythmia","HP:0004308"]
["Ventricular preexcitation","HP:0004309"]
["Abnormal macrophage morphology","HP:0004311"]
["Abnormal reticulocyte morphology","HP:0004312"]
["Decreased circulating antibody level","HP:0004313"]
["Decreased circulating IgG level","HP:0004315"]
["Decreased circulating aldosterone level","HP:0004319"]
["Vaginal fistula","HP:0004320"]
["Bladder fistula","HP:0004321"]
["Short stature","HP:0004322"]
["Abnormality of body weight","HP:0004323"]
["Increased body weight","HP:0004324"]
["Decreased body weight","HP:0004325"]
["Cachexia","HP:0004326"]
["Abnormal vitreous humor morphology","HP:0004327"]
["Abnormal anterior eye segment morphology","HP:0004328"]
["Abnormal posterior eye segment morphology","HP:0004329"]
["Increased skull ossification","HP:0004330"]
["Decreased skull ossification","HP:0004331"]
["Abnormal lymphocyte morphology","HP:0004332"]
["Bone-marrow foam cells","HP:0004333"]
["Dermal atrophy","HP:0004334"]
["Myelin outfoldings","HP:0004336"]
["Abnormality of amino acid metabolism","HP:0004337"]
["Abnormal circulating aromatic amino acid concentration","HP:0004338"]
["Abnormal circulating sulfur amino acid concentration","HP:0004339"]
["Abnormality of vitamin B metabolism","HP:0004340"]
["Abnormality of vitamin B12 metabolism","HP:0004341"]
["Abnormality of galactoside metabolism","HP:0004342"]
["Abnormal glycosphingolipid metabolism","HP:0004343"]
["Abnormality of cerebrosidase metabolism","HP:0004344"]
["Ganglioside accumulation","HP:0004345"]
["Weakness of muscles of respiration","HP:0004347"]
["Abnormality of bone mineral density","HP:0004348"]
["Reduced bone mineral density","HP:0004349"]
["Abnormal circulating purine concentration","HP:0004352"]
["Abnormal circulating pyrimidine concentration","HP:0004353"]
["Abnormal circulating carboxylic acid concentration","HP:0004354"]
["obsolete Abnormality of proteoglycan metabolism","HP:0004355"]
["Abnormality of lysosomal metabolism","HP:0004356"]
["Abnormal circulating leucine concentration","HP:0004357"]
["Abnormality of superoxide metabolism","HP:0004358"]
["Abnormal circulating fatty-acid concentration","HP:0004359"]
["Abnormality of acid-base homeostasis","HP:0004360"]
["Abnormality of circulating leptin level","HP:0004361"]
["Abnormality of enteric ganglion morphology","HP:0004362"]
["Abnormal circulating calcium concentration","HP:0004363"]
["Abnormal circulating nitrogen compound concentration","HP:0004364"]
["Abnormal circulating tryptophan concentration","HP:0004365"]
["Abnormality of glycolysis","HP:0004366"]
["obsolete Abnormality of glycoprotein metabolism","HP:0004367"]
["Increased circulating purine concentration","HP:0004368"]
["Decreased circulating purine concentration","HP:0004369"]
["Abnormality of temperature regulation","HP:0004370"]
["Abnormality of glycosaminoglycan metabolism","HP:0004371"]
["Reduced consciousness/confusion","HP:0004372"]
["Focal dystonia","HP:0004373"]
["Hemiplegia/hemiparesis","HP:0004374"]
["Neoplasm of the nervous system","HP:0004375"]
["Neuroblastic tumor","HP:0004376"]
["Hematological neoplasm","HP:0004377"]
["Abnormality of the anus","HP:0004378"]
["Abnormality of alkaline phosphatase level","HP:0004379"]
["Aortic valve calcification","HP:0004380"]
["Supravalvular aortic stenosis","HP:0004381"]
["Mitral valve calcification","HP:0004382"]
["Hypoplastic left heart","HP:0004383"]
["Type I truncus arteriosus","HP:0004384"]
["Protracted diarrhea","HP:0004385"]
["Gastrointestinal inflammation","HP:0004386"]
["Enterocolitis","HP:0004387"]
["Microcolon","HP:0004388"]
["Intestinal pseudo-obstruction","HP:0004389"]
["Hamartomatous polyposis","HP:0004390"]
["Prune belly","HP:0004392"]
["Multiple gastric polyps","HP:0004394"]
["Malnutrition","HP:0004395"]
["Poor appetite","HP:0004396"]
["Ectopic anus","HP:0004397"]
["Peptic ulcer","HP:0004398"]
["Congenital pyloric atresia","HP:0004399"]
["Abnormality of the pylorus","HP:0004400"]
["Meconium ileus","HP:0004401"]
["Proximal esophageal atresia","HP:0004403"]
["Abnormal nipple morphology","HP:0004404"]
["Prominent nipples","HP:0004405"]
["Spontaneous, recurrent epistaxis","HP:0004406"]
["Bony paranasal bossing","HP:0004407"]
["Abnormality of the sense of smell","HP:0004408"]
["Hyposmia","HP:0004409"]
["Deviated nasal septum","HP:0004411"]
["Abnormality of the pulmonary artery","HP:0004414"]
["Pulmonary artery stenosis","HP:0004415"]
["Precocious atherosclerosis","HP:0004416"]
["Intermittent claudication","HP:0004417"]
["Thrombophlebitis","HP:0004418"]
["Recurrent thrombophlebitis","HP:0004419"]
["Arterial thrombosis","HP:0004420"]
["Elevated systolic blood pressure","HP:0004421"]
["Biparietal narrowing","HP:0004422"]
["Cranium bifidum occultum","HP:0004423"]
["Flat forehead","HP:0004425"]
["Abnormality of the cheek","HP:0004426"]
["Elfin facies","HP:0004428"]
["Recurrent viral infections","HP:0004429"]
["Severe combined immunodeficiency","HP:0004430"]
["Complement deficiency","HP:0004431"]
["Agammaglobulinemia","HP:0004432"]
["Secretory IgA deficiency","HP:0004433"]
["Decreased serum complement C8","HP:0004434"]
["Cranial hyperostosis","HP:0004437"]
["Hyperostosis frontalis interna","HP:0004438"]
["Craniofacial dysostosis","HP:0004439"]
["Coronal craniosynostosis","HP:0004440"]
["Sagittal craniosynostosis","HP:0004442"]
["Lambdoidal craniosynostosis","HP:0004443"]
["Spherocytosis","HP:0004444"]
["Elliptocytosis","HP:0004445"]
["Stomatocytosis","HP:0004446"]
["Poikilocytosis","HP:0004447"]
["Fulminant hepatic failure","HP:0004448"]
["Preauricular skin furrow","HP:0004450"]
["Postauricular skin tag","HP:0004451"]
["Abnormality of the middle ear ossicles","HP:0004452"]
["Overfolding of the superior helices","HP:0004453"]
["Abnormal middle ear reflexes","HP:0004454"]
["Dilatated internal auditory canal","HP:0004458"]
["Exostosis of the external auditory canal","HP:0004459"]
["Congenital earlobe sinuses","HP:0004461"]
["Absent brainstem auditory responses","HP:0004463"]
["Postauricular pit","HP:0004464"]
["Prolonged brainstem auditory evoked potentials","HP:0004466"]
["Preauricular pit","HP:0004467"]
["Anomalous tracheal cartilage","HP:0004468"]
["Chronic bronchitis","HP:0004469"]
["Atretic occipital cephalocele","HP:0004470"]
["Aplasia cutis congenita over the scalp vertex","HP:0004471"]
["Mandibular hyperostosis","HP:0004472"]
["Persistent open anterior fontanelle","HP:0004474"]
["Aplasia cutis congenita over parietal area","HP:0004476"]
["Ethmoidal encephalocele","HP:0004478"]
["Progressive macrocephaly","HP:0004481"]
["Relative macrocephaly","HP:0004482"]
["Craniofacial asymmetry","HP:0004484"]
["Cessation of head growth","HP:0004485"]
["Acrobrachycephaly","HP:0004487"]
["Macrocephaly at birth","HP:0004488"]
["Calvarial hyperostosis","HP:0004490"]
["Large posterior fontanelle","HP:0004491"]
["Widely patent fontanelles and sutures","HP:0004492"]
["Craniofacial hyperostosis","HP:0004493"]
["Thin anteverted nares","HP:0004495"]
["Posterior choanal atresia","HP:0004496"]
["Chronic rhinitis due to narrow nasal airway","HP:0004499"]
["Bilateral choanal atresia","HP:0004502"]
["Pancreatic islet-cell hyperplasia","HP:0004510"]
["Long eyebrows","HP:0004523"]
["Temporal hypotrichosis","HP:0004524"]
["Large clumps of pigment irregularly distributed along hair shaft","HP:0004527"]
["Generalized hypotrichosis","HP:0004528"]
["Atrophic, patchy alopecia","HP:0004529"]
["Sacral hypertrichosis","HP:0004532"]
["Anterior cervical hypertrichosis","HP:0004535"]
["Congenital, generalized hypertrichosis","HP:0004540"]
["obsolete Pointed frontal hairline","HP:0004544"]
["Scarring alopecia of scalp","HP:0004552"]
["Generalized hypertrichosis","HP:0004554"]
["Anterior vertebral fusion","HP:0004557"]
["Cervical platyspondyly","HP:0004558"]
["Beaking of vertebral bodies T12-L3","HP:0004562"]
["Increased spinal bone density","HP:0004563"]
["Severe platyspondyly","HP:0004565"]
["Pear-shaped vertebrae","HP:0004566"]
["Beaking of vertebral bodies","HP:0004568"]
["Increased vertebral height","HP:0004570"]
["Widening of cervical spinal canal","HP:0004571"]
["Anterior wedging of T11","HP:0004573"]
["Fusion of midcervical facet joints","HP:0004575"]
["Sclerotic vertebral endplates","HP:0004576"]
["Anterior scalloping of vertebral bodies","HP:0004580"]
["Increased anterior vertebral height","HP:0004581"]
["Irregularity of vertebral bodies","HP:0004582"]
["Biconcave vertebral bodies","HP:0004586"]
["Dysplasia of second lumbar vertebra","HP:0004589"]
["Hypoplastic sacrum","HP:0004590"]
["Disc-like vertebral bodies","HP:0004591"]
["Thoracic platyspondyly","HP:0004592"]
["Hump-shaped mound of bone in central and posterior portions of vertebral endplate","HP:0004594"]
["Supernumerary vertebral ossification centers","HP:0004598"]
["Absent or minimally ossified vertebral bodies","HP:0004599"]
["Spina bifida occulta at L5","HP:0004601"]
["Cervical C2/C3 vertebral fusion","HP:0004602"]
["Hyperconvex vertebral body endplates","HP:0004603"]
["Absent vertebral body mineralization","HP:0004605"]
["Unossified vertebral bodies","HP:0004606"]
["Anterior beaking of lower thoracic vertebrae","HP:0004607"]
["Anteriorly placed odontoid process","HP:0004608"]
["Patchy distortion of vertebrae","HP:0004609"]
["Lumbar spinal canal stenosis","HP:0004610"]
["Anterior concavity of thoracic vertebrae","HP:0004611"]
["Spina bifida occulta at S1","HP:0004614"]
["Cleft vertebral arch","HP:0004616"]
["Butterfly vertebral arch","HP:0004617"]
["Sandwich appearance of vertebral bodies","HP:0004618"]
["Lumbar kyphoscoliosis","HP:0004619"]
["Enlarged vertebral pedicles","HP:0004621"]
["Progressive intervertebral space narrowing","HP:0004622"]
["Biconvex vertebral bodies","HP:0004625"]
["Lumbar scoliosis","HP:0004626"]
["Small cervical vertebral bodies","HP:0004629"]
["Anterior beaking of thoracic vertebrae","HP:0004630"]
["Decreased cervical spine flexion due to contractures of posterior cervical muscles","HP:0004631"]
["Cervical segmentation defect","HP:0004632"]
["Lower thoracic kyphosis","HP:0004633"]
["Cuboid-shaped vertebral bodies","HP:0004634"]
["Cervical C5/C6 vertebrae fusion","HP:0004635"]
["Decreased cervical spine mobility","HP:0004637"]
["Elevated amniotic fluid alpha-fetoprotein","HP:0004639"]
["Hypoplasia of the nasal bone","HP:0004646"]
["Hypoplasia of facial musculature","HP:0004660"]
["Frontalis muscle weakness","HP:0004661"]
["Facial midline hemangioma","HP:0004664"]
["Decreased facial expression","HP:0004673"]
["Prominent supraorbital arches in adult","HP:0004676"]
["Large tarsal bones","HP:0004679"]
["Deep longitudinal plantar crease","HP:0004681"]
["Talipes valgus","HP:0004684"]
["Short third metatarsal","HP:0004686"]
["Irregular tarsal bones","HP:0004688"]
["Short fourth metatarsal","HP:0004689"]
["Thickened Achilles tendon","HP:0004690"]
["2-3 toe syndactyly","HP:0004691"]
["4-5 toe syndactyly","HP:0004692"]
["Calcaneal epiphyseal stippling","HP:0004695"]
["Talipes cavus equinovarus","HP:0004696"]
["Osteoporotic metatarsal","HP:0004699"]
["Short fifth metatarsal","HP:0004704"]
["Renal malrotation","HP:0004712"]
["Reversible renal failure","HP:0004713"]
["Axial malrotation of the kidney","HP:0004717"]
["Hyperechogenic kidneys","HP:0004719"]
["Thickened glomerular basement membrane","HP:0004722"]
["Calcium nephrolithiasis","HP:0004724"]
["Impaired renal concentrating ability","HP:0004727"]
["Acute tubulointerstitial nephritis","HP:0004729"]
["Impaired renal uric acid clearance","HP:0004732"]
["Renal cortical microcysts","HP:0004734"]
["Crossed fused renal ectopia","HP:0004736"]
["Global glomerulosclerosis","HP:0004737"]
["Abnormal renal collecting system morphology","HP:0004742"]
["Chronic tubulointerstitial nephritis","HP:0004743"]
["Glomerular subendothelial electron-dense deposits","HP:0004746"]
["Atrial flutter","HP:0004749"]
["Paroxysmal ventricular tachycardia","HP:0004751"]
["Congenital atrioventricular dissociation","HP:0004752"]
["Permanent atrial fibrillation","HP:0004754"]
["Supraventricular tachycardia","HP:0004755"]
["Ventricular tachycardia","HP:0004756"]
["Paroxysmal atrial fibrillation","HP:0004757"]
["Effort-induced polymorphic ventricular tachycardia","HP:0004758"]
["obsolete Nodular calcific aortic valve disease","HP:0004759"]
["obsolete Congenital septal defect","HP:0004760"]
["Post-angioplasty coronary artery restenosis","HP:0004761"]
["Hypoplasia of right ventricle","HP:0004762"]
["Paroxysmal supraventricular tachycardia","HP:0004763"]
["Myxomatous mitral valve degeneration","HP:0004764"]
["Sparse anterior scalp hair","HP:0004768"]
["Premature graying of body hair","HP:0004771"]
["Brittle scalp hair","HP:0004779"]
["Elbow hypertrichosis","HP:0004780"]
["obsolete Hypotrichosis of the scalp","HP:0004782"]
["Duodenal polyposis","HP:0004783"]
["Juvenile gastrointestinal polyposis","HP:0004784"]
["Malrotation of colon","HP:0004785"]
["Jejunal diverticula","HP:0004786"]
["Fulminant hepatitis","HP:0004787"]
["Intestinal lymphedema","HP:0004788"]
["Lactose intolerance","HP:0004789"]
["Hypoplasia of the small intestine","HP:0004790"]
["Esophageal ulceration","HP:0004791"]
["Rectoperineal fistula","HP:0004792"]
["Malrotation of small bowel","HP:0004794"]
["Hamartomatous stomach polyps","HP:0004795"]
["Gastrointestinal obstruction","HP:0004796"]
["Multiple small bowel atresias","HP:0004797"]
["Recurrent infection of the gastrointestinal tract","HP:0004798"]
["Jejunoileal diverticula","HP:0004799"]
["Duodenal diverticula","HP:0004800"]
["Episodic hemolytic anemia","HP:0004802"]
["Congenital hemolytic anemia","HP:0004804"]
["Acute myeloid leukemia","HP:0004808"]
["Neonatal alloimmune thrombocytopenia","HP:0004809"]
["Congenital hypoplastic anemia","HP:0004810"]
["B Acute Lymphoblastic Leukemia","HP:0004812"]
["Post-transfusion thrombocytopenia","HP:0004813"]
["Fava bean-induced hemolytic anemia","HP:0004814"]
["Drug-sensitive hemolytic anemia","HP:0004817"]
["Paroxysmal nocturnal hemoglobinuria","HP:0004818"]
["Normocytic hypoplastic anemia","HP:0004819"]
["Acute myelomonocytic leukemia","HP:0004820"]
["Hypersegmentation of neutrophil nuclei","HP:0004821"]
["Atypical elliptocytosis","HP:0004822"]
["Anisopoikilocytosis","HP:0004823"]
["Increased hemoglobin oxygen affinity","HP:0004825"]
["Folate-unresponsive megaloblastic anemia","HP:0004826"]
["Refractory anemia with ringed sideroblasts","HP:0004828"]
["Recurrent thromboembolism","HP:0004831"]
["Microspherocytosis","HP:0004835"]
["Acute promyelocytic leukemia","HP:0004836"]
["Pyropoikilocytosis","HP:0004839"]
["Hypochromic microcytic anemia","HP:0004840"]
["Reduced factor XII activity","HP:0004841"]
["Coombs-positive hemolytic anemia","HP:0004844"]
["Acute monocytic leukemia","HP:0004845"]
["Prolonged bleeding after surgery","HP:0004846"]
["Ph-positive acute lymphoblastic leukemia","HP:0004848"]
["Recurrent deep vein thrombosis","HP:0004850"]
["Folate-responsive megaloblastic anemia","HP:0004851"]
["Reduced leukocyte alkaline phosphatase","HP:0004852"]
["Intermittent thrombocytopenia","HP:0004854"]
["Reduced protein S activity","HP:0004855"]
["Normochromic microcytic anemia","HP:0004856"]
["Hyperchromic macrocytic anemia","HP:0004857"]
["Amegakaryocytic thrombocytopenia","HP:0004859"]
["Thiamine-responsive megaloblastic anemia","HP:0004860"]
["Refractory macrocytic anemia","HP:0004861"]
["Compensated hemolytic anemia","HP:0004863"]
["Refractory sideroblastic anemia","HP:0004864"]
["Impaired ADP-induced platelet aggregation","HP:0004866"]
["Chronic hemolytic anemia","HP:0004870"]
["Perineal fistula","HP:0004871"]
["Incisional hernia","HP:0004872"]
["Neonatal inspiratory stridor","HP:0004875"]
["Spontaneous neonatal pneumothorax","HP:0004876"]
["Intercostal muscle weakness","HP:0004878"]
["Intermittent hyperventilation","HP:0004879"]
["Respiratory infections in early life","HP:0004880"]
["Episodic hypoventilation","HP:0004881"]
["Episodic respiratory distress","HP:0004885"]
["Congenital laryngeal stridor","HP:0004886"]
["Respiratory failure requiring assisted ventilation","HP:0004887"]
["Intermittent episodes of respiratory insufficiency due to muscle weakness","HP:0004889"]
["Elevated pulmonary artery pressure","HP:0004890"]
["Recurrent infections due to aspiration","HP:0004891"]
["Laryngotracheal stenosis","HP:0004894"]
["Stress/infection-induced lactic acidosis","HP:0004897"]
["Persistent lactic acidosis","HP:0004898"]
["Severe lactic acidosis","HP:0004900"]
["Exercise-induced lactic acidemia","HP:0004901"]
["Congenital lactic acidosis","HP:0004902"]
["Maturity-onset diabetes of the young","HP:0004904"]
["Low levels of vitamin A","HP:0004905"]
["Hypernatremic dehydration","HP:0004906"]
["Hypokalemic hypochloremic metabolic alkalosis","HP:0004909"]
["Bicarbonate-wasting renal tubular acidosis","HP:0004910"]
["Episodic metabolic acidosis","HP:0004911"]
["Hypophosphatemic rickets","HP:0004912"]
["Intermittent lactic acidemia","HP:0004913"]
["Recurrent infantile hypoglycemia","HP:0004914"]
["Impairment of galactose metabolism","HP:0004915"]
["Generalized distal tubular acidosis","HP:0004916"]
["Hyperchloremic metabolic acidosis","HP:0004918"]
["Galactose intolerance","HP:0004919"]
["Phenylpyruvic acidemia","HP:0004920"]
["Abnormal magnesium concentration","HP:0004921"]
["Atypical hyperphenylalaninemia","HP:0004922"]
["Hyperphenylalaninemia","HP:0004923"]
["Abnormal oral glucose tolerance","HP:0004924"]
["Chronic lactic acidosis","HP:0004925"]
["Orthostatic hypotension due to autonomic dysfunction","HP:0004926"]
["Pulmonary artery dilatation","HP:0004927"]
["obsolete Peripheral arterial stenosis","HP:0004928"]
["obsolete Coronary atherosclerosis","HP:0004929"]
["Abnormality of the pulmonary vasculature","HP:0004930"]
["Arteriosclerosis of small cerebral arteries","HP:0004931"]
["Ascending aortic dissection","HP:0004933"]
["Vascular calcification","HP:0004934"]
["Pulmonary artery atresia","HP:0004935"]
["Venous thrombosis","HP:0004936"]
["Pulmonary artery aneurysm","HP:0004937"]
["Tortuous cerebral arteries","HP:0004938"]
["Generalized arterial calcification","HP:0004940"]
["Extrahepatic portal hypertension","HP:0004941"]
["Aortic aneurysm","HP:0004942"]
["Accelerated atherosclerosis","HP:0004943"]
["Dilatation of the cerebral artery","HP:0004944"]
["Extracranial internal carotid artery dissection","HP:0004945"]
["Arteriovenous fistula","HP:0004947"]
["Vascular tortuosity","HP:0004948"]
["Peripheral arterial stenosis","HP:0004950"]
["Pulmonary arteriovenous fistulas","HP:0004952"]
["obsolete Dilatation of abdominal aorta","HP:0004953"]
["obsolete Dilatation of the descending aorta","HP:0004954"]
["Generalized arterial tortuosity","HP:0004955"]
["Descending thoracic aorta aneurysm","HP:0004959"]
["Absent pulmonary artery","HP:0004960"]
["Pulmonary artery sling","HP:0004961"]
["Thoracic aorta calcification","HP:0004962"]
["Calcification of the aorta","HP:0004963"]
["Pulmonary arterial medial hypertrophy","HP:0004964"]
["Medial calcification of large arteries","HP:0004966"]
["Recurrent cerebral hemorrhage","HP:0004968"]
["Peripheral pulmonary artery stenosis","HP:0004969"]
["Ascending tubular aorta aneurysm","HP:0004970"]
["Pulmonary artery hypoplasia","HP:0004971"]
["Elevated mean arterial pressure","HP:0004972"]
["Coarctation of abdominal aorta","HP:0004974"]
["Erlenmeyer flask deformity of the femurs","HP:0004975"]
["Knee dislocation","HP:0004976"]
["Bilateral radial aplasia","HP:0004977"]
["Metaphyseal sclerosis","HP:0004979"]
["Metaphyseal rarefaction","HP:0004980"]
["Prominent styloid process of ulna","HP:0004981"]
["obsolete Rudimentary to absent fibulae","HP:0004986"]
["Mesomelic leg shortening","HP:0004987"]
["Epiphyseal streaking","HP:0004990"]
["Rhizomelic arm shortening","HP:0004991"]
["Slender long bones with narrow diaphyses","HP:0004993"]
["Multicentric ossification of proximal humeral epiphyses","HP:0004997"]
["Recurrent patellar dislocation","HP:0005001"]
["Aplasia/Hypoplasia of the capital femoral epiphysis","HP:0005003"]
["Flattened proximal radial epiphyses","HP:0005004"]
["Femoral bowing present at birth, straightening with time","HP:0005005"]
["Large joint dislocations","HP:0005008"]
["Dumbbell-shaped humerus","HP:0005009"]
["Osteomyelitis leading to amputation due to slow healing fractures","HP:0005010"]
["Mesomelic arm shortening","HP:0005011"]
["Dysplastic distal radial epiphyses","HP:0005013"]
["Polyarticular chondrocalcinosis","HP:0005017"]
["Diaphyseal thickening","HP:0005019"]
["Bilateral elbow dislocations","HP:0005021"]
["Hypoplastic distal humeri","HP:0005025"]
["Mesomelic/rhizomelic limb shortening","HP:0005026"]
["Widened proximal tibial metaphyses","HP:0005028"]
["Distal ulnar hypoplasia","HP:0005033"]
["Shortening of all phalanges of the toes","HP:0005035"]
["Unilateral ulnar hypoplasia","HP:0005036"]
["Proximal radio-ulnar synostosis","HP:0005037"]
["Multiple long-bone exostoses","HP:0005039"]
["Irregular capital femoral epiphysis","HP:0005041"]
["Irregular, rachitic-like metaphyses","HP:0005042"]
["Proximal humeral metaphyseal irregularity","HP:0005043"]
["Diaphyseal cortical sclerosis","HP:0005045"]
["Synostosis of carpal bones","HP:0005048"]
["Anterolateral radial head dislocation","HP:0005050"]
["Metaphyseal spurs","HP:0005054"]
["Arthralgia/arthritis","HP:0005059"]
["Limited elbow flexion/extension","HP:0005060"]
["Fragmented, irregular epiphyses","HP:0005063"]
["Cone-shaped epiphyses fused within their metaphyses","HP:0005066"]
["Proximal fibular overgrowth","HP:0005067"]
["Absent styloid process of ulna","HP:0005068"]
["Rhizo-meso-acromelic limb shortening","HP:0005069"]
["Proximal radial head dislocation","HP:0005070"]
["Hyperextensibility at wrists","HP:0005072"]
["Anterior radial head dislocation","HP:0005084"]
["Limited knee flexion/extension","HP:0005085"]
["Knee osteoarthritis","HP:0005086"]
["Abnormal metaphyseal trabeculation","HP:0005089"]
["Lateral femoral bowing","HP:0005090"]
["Streaky metaphyseal sclerosis","HP:0005092"]
["Absent proximal radial epiphyses","HP:0005093"]
["Distal femoral bowing","HP:0005096"]
["Severe hydrops fetalis","HP:0005099"]
["Premature birth following premature rupture of fetal membranes","HP:0005100"]
["High-frequency hearing impairment","HP:0005101"]
["Cochlear degeneration","HP:0005102"]
["Calcification of the auricular cartilage","HP:0005103"]
["Hypoplastic nasal septum","HP:0005104"]
["Abnormal nasal morphology","HP:0005105"]
["Abnormality of the vertebral endplates","HP:0005106"]
["Abnormal sacrum morphology","HP:0005107"]
["Abnormality of the intervertebral disk","HP:0005108"]
["Abnormality of the Achilles tendon","HP:0005109"]
["Atrial fibrillation","HP:0005110"]
["obsolete Dilatation of the ascending aorta","HP:0005111"]
["Abdominal aortic aneurysm","HP:0005112"]
["Aortic arch aneurysm","HP:0005113"]
["obsolete Abnormalities of the peripheral arteries","HP:0005114"]
["Supraventricular arrhythmia","HP:0005115"]
["Arterial tortuosity","HP:0005116"]
["Elevated diastolic blood pressure","HP:0005117"]
["Abnormal cardiac atrium morphology","HP:0005120"]
["Posterior scalloping of vertebral bodies","HP:0005121"]
["Congenital hypertrophy of left ventricle","HP:0005129"]
["obsolete Restrictive heart failure","HP:0005130"]
["Pericardial constriction","HP:0005132"]
["Right ventricular dilatation","HP:0005133"]
["Absence of the pulmonary valve","HP:0005134"]
["Abnormal T-wave","HP:0005135"]
["Mitral annular calcification","HP:0005136"]
["obsolete Episodes of ventricular tachycardia","HP:0005141"]
["Anomalous origin of right pulmonary artery from ascending aorta","HP:0005143"]
["Ventricular septal hypertrophy","HP:0005144"]
["Coronary artery stenosis","HP:0005145"]
["Cardiac valve calcification","HP:0005146"]
["Bidirectional ventricular ectopy","HP:0005147"]
["Pulmonary valve defects","HP:0005148"]
["Abnormal atrioventricular conduction","HP:0005150"]
["Preductal coarctation of the aorta","HP:0005151"]
["Histiocytoid cardiomyopathy","HP:0005152"]
["Ventricular escape rhythm","HP:0005155"]
["Hypoplastic left atrium","HP:0005156"]
["Concentric hypertrophic cardiomyopathy","HP:0005157"]
["Total anomalous pulmonary venous return","HP:0005160"]
["Abnormal left ventricular function","HP:0005162"]
["Dysplastic pulmonary valve","HP:0005164"]
["Shortened PR interval","HP:0005165"]
["Elevated right atrial pressure","HP:0005168"]
["Complete heart block with broad QRS complexes","HP:0005170"]
["Left posterior fascicular block","HP:0005172"]
["obsolete Calcific aortic valve stenosis","HP:0005173"]
["Membranous subvalvular aortic stenosis","HP:0005174"]
["Dysplastic aortic valve","HP:0005176"]
["Premature arteriosclerosis","HP:0005177"]
["Complete heart block with narrow QRS complexes","HP:0005178"]
["Tricuspid regurgitation","HP:0005180"]
["Premature coronary artery atherosclerosis","HP:0005181"]
["Bicuspid pulmonary valve","HP:0005182"]
["Pericardial lymphangiectasia","HP:0005183"]
["Prolonged QTc interval","HP:0005184"]
["Global systolic dysfunction","HP:0005185"]
["Synovial hypertrophy","HP:0005186"]
["Progressive joint destruction","HP:0005187"]
["Proximal finger joint hyperextensibility","HP:0005190"]
["Congenital knee dislocation","HP:0005191"]
["Restricted large joint movement","HP:0005193"]
["Flattened metatarsal heads","HP:0005194"]
["Polyarticular arthropathy","HP:0005195"]
["Generalized morning stiffness","HP:0005197"]
["Stiff interphalangeal joints","HP:0005198"]
["Aplasia of the abdominal wall musculature","HP:0005199"]
["Retroperitoneal fibrosis","HP:0005200"]
["Anomalous splenoportal venous system","HP:0005201"]
["Helicobacter pylori infection","HP:0005202"]
["Spontaneous esophageal perforation","HP:0005203"]
["Pancreatic pseudocyst","HP:0005206"]
["Gastric hypertrophy","HP:0005207"]
["Secretory diarrhea","HP:0005208"]
["Intrahepatic bile duct cysts","HP:0005209"]
["Hypoplastic colon","HP:0005210"]
["Midgut malrotation","HP:0005211"]
["Anal mucosal leukoplakia","HP:0005212"]
["Pancreatic calcification","HP:0005213"]
["Intestinal obstruction","HP:0005214"]
["Frequent Giardia lamblia infestation","HP:0005215"]
["Impaired mastication","HP:0005216"]
["Duplication of internal organs","HP:0005217"]
["Anoperineal fistula","HP:0005218"]
["Absence of intrinsic factor","HP:0005219"]
["Multiple intestinal neurofibromatosis","HP:0005220"]
["Bowel diverticulosis","HP:0005222"]
["Duplicated colon","HP:0005223"]
["Rectal abscess","HP:0005224"]
["Intestinal edema","HP:0005225"]
["Adenomatous colonic polyposis","HP:0005227"]
["Jejunoileal ulceration","HP:0005229"]
["Biliary tract obstruction","HP:0005230"]
["Chronic gastritis","HP:0005231"]
["Pancreatic dysplasia","HP:0005232"]
["Hypoplasia of the gallbladder","HP:0005233"]
["Neonatal intestinal obstruction","HP:0005234"]
["Jejunal atresia","HP:0005235"]
["Chronic calcifying pancreatitis","HP:0005236"]
["Degenerative liver disease","HP:0005237"]
["Discrete intestinal polyps","HP:0005238"]
["Esophageal obstruction","HP:0005240"]
["Total intestinal aganglionosis","HP:0005241"]
["Extrahepatic biliary duct atresia","HP:0005242"]
["Partial abdominal muscle agenesis","HP:0005243"]
["Gastrointestinal infarctions","HP:0005244"]
["Intestinal hypoplasia","HP:0005245"]
["Giant hypertrophic gastritis","HP:0005246"]
["Hypoplasia of the abdominal wall musculature","HP:0005247"]
["Intrahepatic biliary atresia","HP:0005248"]
["Functional intestinal obstruction","HP:0005249"]
["High intestinal obstruction","HP:0005250"]
["Increased anterioposterior diameter of thorax","HP:0005253"]
["Unilateral chest hypoplasia","HP:0005254"]
["Absence of pectoralis minor muscle","HP:0005255"]
["Unilateral absence of pectoralis major muscle","HP:0005256"]
["Thoracic hypoplasia","HP:0005257"]
["Pectoral muscle hypoplasia/aplasia","HP:0005258"]
["Abnormal facility in opposing the shoulders","HP:0005259"]
["Joint hemorrhage","HP:0005261"]
["Abnormality of the synovia","HP:0005262"]
["Gastritis","HP:0005263"]
["Abnormality of the gallbladder","HP:0005264"]
["Abnormal jejunum morphology","HP:0005265"]
["Intestinal polyp","HP:0005266"]
["Premature delivery because of cervical insufficiency or membrane fragility","HP:0005267"]
["Spontaneous abortion","HP:0005268"]
["Prominent nasolabial fold","HP:0005272"]
["Absent nasal septal cartilage","HP:0005273"]
["Prominent nasal tip","HP:0005274"]
["Cartilaginous ossification of nose","HP:0005275"]
["Hypoplastic nasal tip","HP:0005278"]
["Depressed nasal bridge","HP:0005280"]
["Hypoplastic nasal bridge","HP:0005281"]
["Absent nasal bridge","HP:0005285"]
["Abnormality of the nares","HP:0005288"]
["Abnormality of the nasolabial region","HP:0005289"]
["Internal carotid artery hypoplasia","HP:0005290"]
["Inflammatory arteriopathy","HP:0005291"]
["Intimal thickening in the coronary arteries","HP:0005292"]
["Venous insufficiency","HP:0005293"]
["Arterial dissection","HP:0005294"]
["Pseudocoarctation of the aorta","HP:0005295"]
["obsolete Occlusive vascular disease","HP:0005296"]
["Premature occlusive vascular stenosis","HP:0005297"]
["obsolete Atrioventricular canal defect with right ventricle aorta and pulmonary atresia","HP:0005298"]
["obsolete Premature peripheral vascular disease","HP:0005299"]
["Nodular inflammatory vasculitis","HP:0005300"]
["Persistent left superior vena cava","HP:0005301"]
["Carotid artery tortuosity","HP:0005302"]
["Aortic arch calcification","HP:0005303"]
["Hypoplastic pulmonary veins","HP:0005304"]
["Cerebral venous thrombosis","HP:0005305"]
["Capillary hemangioma","HP:0005306"]
["Postural hypotension with compensatory tachycardia","HP:0005307"]
["Pulmonary artery vasoconstriction","HP:0005308"]
["obsolete Peripheral vascular insufficiency","HP:0005309"]
["Large vessel vasculitis","HP:0005310"]
["Agenesis of pulmonary vessels","HP:0005311"]
["Pulmonary aterial intimal fibrosis","HP:0005312"]
["Arterial fibromuscular dysplasia","HP:0005313"]
["Anomalous branches of internal carotid artery","HP:0005314"]
["obsolete Peripheral artery occlusive disease","HP:0005315"]
["Peripheral pulmonary vessel aplasia","HP:0005316"]
["Increased pulmonary vascular resistance","HP:0005317"]
["Cerebral vasculitis","HP:0005318"]
["Lack of facial subcutaneous fat","HP:0005320"]
["Mandibulofacial dysostosis","HP:0005321"]
["Prominent nasal septum","HP:0005322"]
["Hemifacial hypertrophy","HP:0005323"]
["Disturbance of facial expression","HP:0005324"]
["Extension of hair growth on temples to lateral eyebrow","HP:0005325"]
["Hypoplastic philtrum","HP:0005326"]
["Loss of facial expression","HP:0005327"]
["Progeroid facial appearance","HP:0005328"]
["Fixed facial expression","HP:0005329"]
["Recurrent mandibular subluxations","HP:0005332"]
["Sleepy facial expression","HP:0005335"]
["Forehead hyperpigmentation","HP:0005336"]
["Sparse lateral eyebrow","HP:0005338"]
["Abnormality of complement system","HP:0005339"]
["Spastic/hyperactive bladder","HP:0005340"]
["Autonomic bladder dysfunction","HP:0005341"]
["Hypoplasia of the bladder","HP:0005343"]
["Abnormal carotid artery morphology","HP:0005344"]
["Abnormal vena cava morphology","HP:0005345"]
["Abnormal facial expression","HP:0005346"]
["Cartilaginous trachea","HP:0005347"]
["Inspiratory stridor","HP:0005348"]
["Hypoplasia of the epiglottis","HP:0005349"]
["Severe T-cell immunodeficiency","HP:0005352"]
["Recurrent herpes","HP:0005353"]
["Lack of T cell function","HP:0005354"]
["Decreased serum complement factor I","HP:0005356"]
["Defective B cell differentiation","HP:0005357"]
["Aplasia of the thymus","HP:0005359"]
["Susceptibility to chickenpox","HP:0005360"]
["Humoral immunodeficiency","HP:0005363"]
["obsolete Severe viral infections","HP:0005364"]
["Severe B lymphocytopenia","HP:0005365"]
["Recurrent streptococcus pneumoniae infections","HP:0005366"]
["Abnormality of humoral immunity","HP:0005368"]
["Decreased serum complement factor H","HP:0005369"]
["Abnormality of B cell physiology","HP:0005372"]
["Cellular immunodeficiency","HP:0005374"]
["obsolete Partial cellular immunodeficiency","HP:0005375"]
["Recurrent Haemophilus influenzae infections","HP:0005376"]
["obsolete Severe T lymphocytopenia","HP:0005379"]
["Recurrent meningococcal disease","HP:0005381"]
["Defective B cell activation","HP:0005384"]
["Recurrent protozoan infections","HP:0005386"]
["Combined immunodeficiency","HP:0005387"]
["Depletion of components of the alternative complement pathway","HP:0005389"]
["Recurrent opportunistic infections","HP:0005390"]
["Susceptibility to coronavirus 229e","HP:0005396"]
["obsolete Exaggerated cellular immune processes","HP:0005397"]
["Reduction of neutrophil motility","HP:0005400"]
["Recurrent candida infections","HP:0005401"]
["obsolete Primary T-lymphocyte immune abnormalities","HP:0005402"]
["T lymphocytopenia","HP:0005403"]
["Increased B cell count","HP:0005404"]
["Recurrent bacterial skin infections","HP:0005406"]
["Decreased proportion of CD4-positive helper T cells","HP:0005407"]
["obsolete Markedly reduced T cell function","HP:0005409"]
["Chronic intestinal candidiasis","HP:0005411"]
["Increased alpha-globulin","HP:0005413"]
["Decreased proportion of CD8-positive T cells","HP:0005415"]
["Decreased serum complement factor B","HP:0005416"]
["Decreased T cell activation","HP:0005419"]
["Recurrent gram-negative bacterial infections","HP:0005420"]
["Decreased serum complement C3","HP:0005421"]
["Absence of CD8-positive T cells","HP:0005422"]
["Dysfunctional alternative complement pathway","HP:0005423"]
["Absent specific antibody response","HP:0005424"]
["Recurrent sinopulmonary infections","HP:0005425"]
["Severe recurrent varicella","HP:0005428"]
["Recurrent systemic pyogenic infections","HP:0005429"]
["Recurrent Neisserial infections","HP:0005430"]
["Transient hypogammaglobulinemia of infancy","HP:0005432"]
["Impaired T cell function","HP:0005435"]
["Recurrent infections in infancy and early childhood","HP:0005437"]
["Maxillozygomatic hypoplasia","HP:0005439"]
["Sclerotic cranial sutures","HP:0005441"]
["Widely patent coronal suture","HP:0005442"]
["Enlarged posterior fossa","HP:0005445"]
["Obtuse angle of mandible","HP:0005446"]
["Bridged sella turcica","HP:0005449"]
["Calvarial osteosclerosis","HP:0005450"]
["Decreased cranial base ossification","HP:0005451"]
["Absent/hypoplastic paranasal sinuses","HP:0005453"]
["Absent ethmoidal sinuses","HP:0005456"]
["Premature closure of fontanelles","HP:0005458"]
["Craniofacial disproportion","HP:0005461"]
["Calcification of falx cerebri","HP:0005462"]
["Elongated sella turcica","HP:0005463"]
["Craniofacial osteosclerosis","HP:0005464"]
["Facial hyperostosis","HP:0005465"]
["Hypoplasia of the frontal bone","HP:0005466"]
["Flat occiput","HP:0005469"]
["Orbital craniosynostosis","HP:0005472"]
["Fusion of middle ear ossicles","HP:0005473"]
["Decreased calvarial ossification","HP:0005474"]
["Widely patent sagittal suture","HP:0005476"]
["Progressive sclerosis of skull base","HP:0005477"]
["Prominent frontal sinuses","HP:0005478"]
["Decreased circulating IgE","HP:0005479"]
["Abnormality of the alternative complement pathway","HP:0005482"]
["Abnormal epiglottis morphology","HP:0005483"]
["Secondary microcephaly","HP:0005484"]
["Small fontanelle","HP:0005486"]
["Prominent metopic ridge","HP:0005487"]
["Postnatal macrocephaly","HP:0005490"]
["Premature posterior fontanelle closure","HP:0005494"]
["Metopic suture patent to nasal root","HP:0005495"]
["Midline skin dimples over anterior/posterior fontanelles","HP:0005498"]
["Increased red cell osmotic fragility","HP:0005502"]
["Refractory anemia","HP:0005505"]
["Chronic myelogenous leukemia","HP:0005506"]
["Hemoglobin Barts","HP:0005507"]
["Monoclonal immunoglobulin M proteinemia","HP:0005508"]
["Transient erythroblastopenia","HP:0005510"]
["Heinz body anemia","HP:0005511"]
["Impaired neutrophil killing of staphylococci","HP:0005512"]
["Increased megakaryocyte count","HP:0005513"]
["T-cell lymphoma/leukemia","HP:0005517"]
["Increased mean corpuscular volume","HP:0005518"]
["Chronic disseminated intravascular coagulation","HP:0005520"]
["Disseminated intravascular coagulation","HP:0005521"]
["Pyridoxine-responsive sideroblastic anemia","HP:0005522"]
["Lymphoproliferative disorder","HP:0005523"]
["Macrocytic hemolytic disease","HP:0005524"]
["Spontaneous hemolytic crises","HP:0005525"]
["Lymphoid leukemia","HP:0005526"]
["Reduced kininogen activity","HP:0005527"]
["Bone marrow hypocellularity","HP:0005528"]
["Biphenotypic acute leukemia","HP:0005531"]
["Macrocytic dyserythropoietic anemia","HP:0005532"]
["Transient myeloproliferative syndrome","HP:0005534"]
["Exercise-induced hemolysis","HP:0005535"]
["Decreased mean platelet volume","HP:0005537"]
["T cell chronic lymphocytic lymphoma/leukemia","HP:0005539"]
["Red blood cell keratocytosis","HP:0005540"]
["Congenital agranulocytosis","HP:0005541"]
["Prolonged whole-blood clotting time","HP:0005542"]
["Reduced protein C activity","HP:0005543"]
["Increased red cell osmotic resistance","HP:0005546"]
["Myeloproliferative disorder","HP:0005547"]
["Megakaryocytopenia","HP:0005548"]
["obsolete Congenital neutropenia","HP:0005549"]
["Chronic lymphatic leukemia","HP:0005550"]
["Abnormality of the metopic suture","HP:0005556"]
["Abnormality of the zygomatic arch","HP:0005557"]
["Chronic leukemia","HP:0005558"]
["Abnormality of the kinin-kallikrein system","HP:0005559"]
["Imbalanced hemoglobin synthesis","HP:0005560"]
["Abnormality of bone marrow cell morphology","HP:0005561"]
["Multiple renal cysts","HP:0005562"]
["Decreased numbers of nephrons","HP:0005563"]
["Absence of renal corticomedullary differentiation","HP:0005564"]
["Reduced renal corticomedullary differentiation","HP:0005565"]
["Renal magnesium wasting","HP:0005567"]
["Increased renal tubular phosphate reabsorption","HP:0005571"]
["Decreased renal tubular phosphate excretion","HP:0005572"]
["Non-acidotic proximal tubulopathy","HP:0005574"]
["Hemolytic-uremic syndrome","HP:0005575"]
["Tubulointerstitial fibrosis","HP:0005576"]
["Impaired reabsorption of chloride","HP:0005579"]
["Duplication of renal pelvis","HP:0005580"]
["Tubular basement membrane disintegration","HP:0005583"]
["Renal cell carcinoma","HP:0005584"]
["Spotty hyperpigmentation","HP:0005585"]
["Hyperpigmentation in sun-exposed areas","HP:0005586"]
["Profuse pigmented skin lesions","HP:0005587"]
["Patchy palmoplantar hyperkeratosis","HP:0005588"]
["Spotty hypopigmentation","HP:0005590"]
["Giant melanosomes in melanocytes","HP:0005592"]
["Macular hypopigmented whorls, streaks, and patches","HP:0005593"]
["Generalized hyperkeratosis","HP:0005595"]
["Congenital alopecia totalis","HP:0005597"]
["Facial telangiectasia in butterfly midface distribution","HP:0005598"]
["Hypopigmentation of hair","HP:0005599"]
["Congenital giant melanocytic nevus","HP:0005600"]
["Progressive vitiligo","HP:0005602"]
["Numerous congenital melanocytic nevi","HP:0005603"]
["Large cafe-au-lait macules with irregular margins","HP:0005605"]
["Hyperpigmented nevi and streak","HP:0005606"]
["Abnormal tracheobronchial morphology","HP:0005607"]
["Bilobate gallbladder","HP:0005608"]
["Gallbladder dysfunction","HP:0005609"]
["Arthrogryposis-like hand anomaly","HP:0005612"]
["Aplasia/hypoplasia of the femur","HP:0005613"]
["Accelerated skeletal maturation","HP:0005616"]
["Bilateral camptodactyly","HP:0005617"]
["Thoracolumbar kyphosis","HP:0005619"]
["Hypermobility of interphalangeal joints","HP:0005620"]
["Trapezoidal shaped vertebral bodies","HP:0005621"]
["Broad long bones","HP:0005622"]
["Absent ossification of calvaria","HP:0005623"]
["Osteoporosis of vertebrae","HP:0005625"]
["Posterior fusion of lumbosacral vertebrae","HP:0005626"]
["Type D brachydactyly","HP:0005627"]
["Absent forearm","HP:0005632"]
["Decreased anterioposterior diameter of lumbar vertebral bodies","HP:0005638"]
["Hyperextensible hand joints","HP:0005639"]
["Abnormal vertebral segmentation and fusion","HP:0005640"]
["Short 3rd toe","HP:0005643"]
["Intervertebral disk calcification","HP:0005645"]
["Bilateral ulnar hypoplasia","HP:0005648"]
["Cutaneous syndactyly between fingers 2 and 5","HP:0005650"]
["Cortical sclerosis","HP:0005652"]
["Moderate generalized osteoporosis","HP:0005653"]
["Multiple digital exostoses","HP:0005655"]
["Positional foot deformity","HP:0005656"]
["Thoracic kyphoscoliosis","HP:0005659"]
["Salmonella osteomyelitis","HP:0005661"]
["Massively thickened long bone cortices","HP:0005665"]
["Os odontoideum","HP:0005667"]
["Bilateral intracerebral calcifications","HP:0005671"]
["Rudimentary postaxial polydactyly of hands","HP:0005676"]
["Anterior atlanto-occipital dislocation","HP:0005678"]
["Dupuytren contracture","HP:0005679"]
["Tongue-like lumbar vertebral deformities","HP:0005680"]
["Juvenile rheumatoid arthritis","HP:0005681"]
["Talocalcaneal synostosis","HP:0005682"]
["Distal arthrogryposis","HP:0005684"]
["Patchy osteosclerosis","HP:0005686"]
["Deformed humeral heads","HP:0005687"]
["Dysplastic distal thumb phalanges with a central hole","HP:0005688"]
["Dermatoglyphic ridges abnormal","HP:0005689"]
["Joint hyperflexibility","HP:0005692"]
["Partial fusion of proximal row of carpal bones","HP:0005694"]
["Postaxial polydactyly type A","HP:0005696"]
["Increased bone density with cystic changes","HP:0005700"]
["Multiple enchondromatosis","HP:0005701"]
["Bilateral triphalangeal thumbs","HP:0005707"]
["2-3 toe cutaneous syndactyly","HP:0005709"]
["Flattened knee epiphyses","HP:0005715"]
["Lethal skeletal dysplasia","HP:0005716"]
["Shortening of all metacarpals","HP:0005720"]
["Hyperextensible thumb","HP:0005722"]
["Shoe-shaped sella turcica","HP:0005723"]
["Nonopposable triphalangeal thumb","HP:0005725"]
["Thumbs hypoplastic with bulbous tips","HP:0005726"]
["Cortical irregularity","HP:0005731"]
["Spinal stenosis with reduced interpedicular distance","HP:0005733"]
["Short tibia","HP:0005736"]
["Posterior subluxation of radial head","HP:0005739"]
["Avascular necrosis of the capital femoral epiphysis","HP:0005743"]
["obsolete Generalized osteoporosis with pathologic fractures","HP:0005744"]
["Congenital foot contractures","HP:0005745"]
["Osteosclerosis of the base of the skull","HP:0005746"]
["Easily subluxated first metacarpophalangeal joints","HP:0005747"]
["Contractures of the joints of the lower limbs","HP:0005750"]
["Flattened moderately deformed vertebrae","HP:0005752"]
["Neonatal epiphyseal stippling","HP:0005756"]
["Basilar impression","HP:0005758"]
["Small flat posterior fossa","HP:0005759"]
["Polyarticular arthritis","HP:0005764"]
["Sacral meningocele","HP:0005765"]
["Disproportionate shortening of the tibia","HP:0005766"]
["1-2 toe complete cutaneous syndactyly","HP:0005767"]
["2-4 toe cutaneous syndactyly","HP:0005768"]
["Fifth finger distal phalanx clinodactyly","HP:0005769"]
["Aplasia/Hypoplasia of the tibia","HP:0005772"]
["Short forearm","HP:0005773"]
["Multiple skeletal anomalies","HP:0005775"]
["Carpal bone malsegmentation","HP:0005776"]
["Absent fourth finger distal interphalangeal crease","HP:0005780"]
["Contractures of the large joints","HP:0005781"]
["Lumbar platyspondyly","HP:0005787"]
["Abnormal cervical myelogram","HP:0005788"]
["Generalized osteosclerosis","HP:0005789"]
["Short mandibular condyles","HP:0005790"]
["Cortical thickening of long bone diaphyses","HP:0005791"]
["Short humerus","HP:0005792"]
["Shortening of all distal phalanges of the toes","HP:0005793"]
["obsolete Arterial disease of legs","HP:0005794"]
["Posterior radial head dislocation","HP:0005798"]
["Coalescence of tarsal bones","HP:0005802"]
["Absent distal phalanges","HP:0005807"]
["Supernumerary ribs","HP:0005815"]
["Postaxial polysyndactyly of foot","HP:0005817"]
["Short middle phalanx of finger","HP:0005819"]
["Superior rib anomalies","HP:0005820"]
["Clinodactyly of the 2nd toe","HP:0005824"]
["Mixed sclerosis of humeral metaphyses","HP:0005825"]
["Transient pulmonary infiltrates","HP:0005828"]
["Maldevelopment of radioulnar joint","HP:0005829"]
["Flexion contracture of toe","HP:0005830"]
["Type B brachydactyly","HP:0005831"]
["Dysharmonic delayed bone age","HP:0005832"]
["obsolete Joint swelling onset late infancy","HP:0005833"]
["obsolete Thumbs hypo/aplastic","HP:0005834"]
["obsolete Joint dislocations in young adult","HP:0005837"]
["Calcific stippling of infantile cartilaginous skeleton","HP:0005841"]
["Rounded middle phalanx of finger","HP:0005844"]
["obsolete Bifid thumb distal phalanx","HP:0005848"]
["Diffuse cerebral calcification","HP:0005849"]
["Congenital talipes calcaneovalgus","HP:0005850"]
["Limited elbow extension and supination","HP:0005852"]
["Congenital foot contraction deformities","HP:0005853"]
["Multiple prenatal fractures","HP:0005855"]
["Ulnar radial head dislocation","HP:0005856"]
["Cervical spina bifida","HP:0005857"]
["Type E brachydactyly","HP:0005863"]
["Pseudoarthrosis","HP:0005864"]
["Opposable triphalangeal thumb","HP:0005866"]
["Fused fourth and fifth metacarpals","HP:0005867"]
["Metaphyseal enchondromatosis","HP:0005868"]
["Metaphyseal chondrodysplasia","HP:0005871"]
["Brachytelomesophalangy","HP:0005872"]
["Polysyndactyly of hallux","HP:0005873"]
["Increased dermatoglyphic whorls","HP:0005875"]
["Progressive flexion contractures","HP:0005876"]
["Multiple small vertebral fractures","HP:0005877"]
["Enlarged sagittal diameter of the cervical canal","HP:0005878"]
["Congenital finger flexion contractures","HP:0005879"]
["Metacarpophalangeal synostosis","HP:0005880"]
["Spinal instability","HP:0005881"]
["Dermatoglyphic variants","HP:0005882"]
["Absent ossification of cervical vertebral bodies","HP:0005885"]
["Aphalangy of the hands","HP:0005886"]
["Hyperostosis cranialis interna","HP:0005890"]
["Progressive forearm bowing","HP:0005891"]
["Proximal tibial and fibular fusion","HP:0005892"]
["Double first metacarpals","HP:0005894"]
["Radial deviation of thumb terminal phalanx","HP:0005895"]
["Severe generalized osteoporosis","HP:0005897"]
["Metaphyseal dysostosis","HP:0005899"]
["Fifth metacarpal with ulnar notch","HP:0005900"]
["obsolete Chronic recurrent multifocal osteomyelitis","HP:0005901"]
["Abnormal cervical curvature","HP:0005905"]
["Delayed pneumatization of the mastoid process","HP:0005906"]
["Rhomboid or triangular shaped 5th finger middle phalanx","HP:0005910"]
["Biliary atresia","HP:0005912"]
["Abnormality of metacarpal epiphyses","HP:0005913"]
["Aplasia/Hypoplasia involving the metacarpal bones","HP:0005914"]
["Abnormal metacarpal morphology","HP:0005916"]
["Supernumerary metacarpal bones","HP:0005917"]
["Abnormal finger phalanx morphology","HP:0005918"]
["Abnormal epiphysis morphology of the phalanges of the hand","HP:0005920"]
["obsolete Abnormal ossification of hand bones","HP:0005921"]
["Abnormal hand morphology","HP:0005922"]
["Abnormalities of the metaphyses of the hand","HP:0005923"]
["Abnormality of the epiphyses of the hand","HP:0005924"]
["Abnormalities of the diaphyses of the hand","HP:0005925"]
["Abnormality of hand cortical bone","HP:0005926"]
["Aplasia/hypoplasia involving bones of the hand","HP:0005927"]
["Synostosis involving the fibula","HP:0005928"]
["Synostosis involving the tibia","HP:0005929"]
["Abnormality of epiphysis morphology","HP:0005930"]
["Abnormal renal corticomedullary differentiation","HP:0005932"]
["Imperfect vocal cord adduction","HP:0005934"]
["Abnormal respiratory motile cilium morphology","HP:0005938"]
["Multiple bilateral pneumothoraces","HP:0005939"]
["Intermittent hyperpnea at rest","HP:0005941"]
["Desquamative interstitial pneumonitis","HP:0005942"]
["Respiratory arrest","HP:0005943"]
["Bilateral lung agenesis","HP:0005944"]
["Laryngeal obstruction","HP:0005945"]
["Ventilator dependence with inability to wean","HP:0005946"]
["Decreased sensitivity to hypoxemia","HP:0005947"]
["Multiple pulmonary cysts","HP:0005948"]
["Apneic episodes in infancy","HP:0005949"]
["Laryngeal web","HP:0005950"]
["Progressive inspiratory stridor","HP:0005951"]
["Decreased pulmonary function","HP:0005952"]
["Pulmonary capillary hemangiomatosis","HP:0005954"]
["Anteroposteriorly shortened larynx","HP:0005956"]
["Breathing dysregulation","HP:0005957"]
["Impaired gluconeogenesis","HP:0005959"]
["Hypoargininemia","HP:0005961"]
["Intermittent hypothermia","HP:0005964"]
["Mixed respiratory and metabolic acidosis","HP:0005967"]
["Temperature instability","HP:0005968"]
["Respiratory acidosis","HP:0005972"]
["Fructose intolerance","HP:0005973"]
["Episodic ketoacidosis","HP:0005974"]
["Hyperkalemic metabolic acidosis","HP:0005976"]
["Hypochloremic metabolic alkalosis","HP:0005977"]
["Type II diabetes mellitus","HP:0005978"]
["Metabolic ketoacidosis","HP:0005979"]
["Reduced phenylalanine hydroxylase level","HP:0005982"]
["Elevated maternal serum alpha-fetoprotein","HP:0005984"]
["Limitation of neck motion","HP:0005986"]
["Multinodular goiter","HP:0005987"]
["Congenital muscular torticollis","HP:0005988"]
["Redundant neck skin","HP:0005989"]
["Thyroid hypoplasia","HP:0005990"]
["Limited neck flexion","HP:0005991"]
["Nodular goiter","HP:0005994"]
["Decreased adipose tissue around neck","HP:0005995"]
["Restricted neck movement due to contractures","HP:0005997"]
["Ureteral atresia","HP:0005999"]
["Ureteral obstruction","HP:0006000"]
["Hypotrophy of the small hand muscles","HP:0006006"]
["Unilateral brachydactyly","HP:0006008"]
["Broad phalanx","HP:0006009"]
["Cuboidal metacarpal","HP:0006011"]
["Widened metacarpal shaft","HP:0006012"]
["Abnormally shaped carpal bones","HP:0006014"]
["Delayed phalangeal epiphyseal ossification","HP:0006016"]
["Reduced proximal interphalangeal joint space","HP:0006019"]
["Rounded epiphyses","HP:0006026"]
["Metaphyseal cupping of metacarpals","HP:0006028"]
["Cone-shaped epiphyses of phalanges 2 to 5","HP:0006035"]
["Long second metacarpal","HP:0006040"]
["Y-shaped metacarpals","HP:0006042"]
["Short pointed phalanges","HP:0006045"]
["Distal widening of metacarpals","HP:0006048"]
["Metacarpal periosteal thickening","HP:0006051"]
["Ulnar deviated club hands","HP:0006055"]
["Cone-shaped metacarpal epiphyses","HP:0006059"]
["Tombstone-shaped proximal phalanges","HP:0006060"]
["Limited interphalangeal movement","HP:0006064"]
["Multiple carpal ossification centers","HP:0006067"]
["Severe carpal ossification delay","HP:0006069"]
["Metacarpophalangeal joint contracture","HP:0006070"]
["Absent proximal finger flexion creases","HP:0006077"]
["Thin metacarpal cortices","HP:0006086"]
["1-5 finger complete cutaneous syndactyly","HP:0006088"]
["Palmar hyperhidrosis","HP:0006089"]
["Malaligned carpal bone","HP:0006092"]
["Finger joint hypermobility","HP:0006094"]
["Wide tufts of distal phalanges","HP:0006095"]
["3-4 finger syndactyly","HP:0006097"]
["Metacarpophalangeal joint hyperextensibility","HP:0006099"]
["Finger syndactyly","HP:0006101"]
["Absent trapezoid bone","HP:0006106"]
["Fingerpad telangiectases","HP:0006107"]
["Tapered metacarpals","HP:0006108"]
["Absent phalangeal crease","HP:0006109"]
["Shortening of all middle phalanges of the fingers","HP:0006110"]
["Expanded phalanges with widened medullary cavities","HP:0006112"]
["Multiple palmar creases","HP:0006114"]
["Shortening of all distal phalanges of the fingers","HP:0006118"]
["Proximal tapering of metacarpals","HP:0006119"]
["Acral ulceration","HP:0006121"]
["Long proximal phalanx of finger","HP:0006127"]
["Drumstick terminal phalanges","HP:0006129"]
["Enlarged metacarpal epiphyses","HP:0006134"]
["Decreased finger mobility","HP:0006135"]
["Bilateral postaxial polydactyly","HP:0006136"]
["Premature fusion of phalangeal epiphyses","HP:0006140"]
["Abnormal finger flexion creases","HP:0006143"]
["Shortening of all proximal phalanges of the fingers","HP:0006144"]
["Central Y-shaped metacarpal","HP:0006145"]
["Broad metacarpal epiphyses","HP:0006146"]
["Progressive fusion 2nd-5th pip joints","HP:0006147"]
["Increased laxity of fingers","HP:0006149"]
["Swan neck-like deformities of the fingers","HP:0006150"]
["Proximal symphalangism of hands","HP:0006152"]
["Disharmonious carpal bone","HP:0006153"]
["Long phalanx of finger","HP:0006155"]
["Ulnar deviation of thumb","HP:0006156"]
["Prominent palmar flexion creases","HP:0006157"]
["obsolete Finger joint hyperextensibility","HP:0006158"]
["Mesoaxial hand polydactyly","HP:0006159"]
["Irregular metacarpals","HP:0006160"]
["Short metacarpals with rounded proximal ends","HP:0006161"]
["Soft tissue swelling of interphalangeal joints","HP:0006162"]
["Enlarged metacarpophalangeal joints","HP:0006163"]
["Proportionate shortening of all digits","HP:0006165"]
["Tubular metacarpal bones","HP:0006166"]
["Prominent proximal interphalangeal joints","HP:0006167"]
["Decreased mobility 3rd-5th fingers","HP:0006169"]
["Chess-pawn distal phalanges","HP:0006170"]
["Flattened, squared-off epiphyses of tubular bones","HP:0006172"]
["Metacarpal diaphyseal endosteal sclerosis","HP:0006174"]
["Proximal phalangeal periosteal thickening","HP:0006175"]
["Two carpal ossification centers present at birth","HP:0006176"]
["Pseudoepiphyses of second metacarpal","HP:0006179"]
["Crowded carpal bones","HP:0006180"]
["Decreased palmar creases","HP:0006184"]
["Enlarged proximal interphalangeal joints","HP:0006185"]
["Fusion of midphalangeal joints","HP:0006187"]
["Prominent interdigital folds","HP:0006189"]
["Radially deviated wrists","HP:0006190"]
["Deep palmar crease","HP:0006191"]
["Tapered phalanx of finger","HP:0006192"]
["Thimble-shaped middle phalanges of hand","HP:0006193"]
["Widened distal phalanges","HP:0006200"]
["Hypermobility of distal interphalangeal joints","HP:0006201"]
["Osteolysis of scaphoids","HP:0006202"]
["Decreased movement range in interphalangeal joints","HP:0006203"]
["Irregular phalanges","HP:0006205"]
["Hypersegmentation of proximal phalanx of second finger","HP:0006206"]
["Partial fusion of carpals","HP:0006207"]
["Metaphyseal cupping of proximal phalanges","HP:0006208"]
["Partial-complete absence of 5th phalanges","HP:0006209"]
["Postaxial oligodactyly","HP:0006210"]
["Thin proximal phalanges with broad epiphyses of the hand","HP:0006213"]
["Single interphalangeal crease of fifth finger","HP:0006216"]
["Limited mobility of proximal interphalangeal joint","HP:0006217"]
["Tapering pointed ends of distal finger phalanges","HP:0006224"]
["Osteoarthritis of the first carpometacarpal joint","HP:0006226"]
["Valgus hand deformity","HP:0006228"]
["Unilateral oligodactyly","HP:0006230"]
["Expanded metacarpals with widened medullary cavities","HP:0006232"]
["Osteoarthritis of the distal interphalangeal joint","HP:0006233"]
["Osteolysis involving tarsal bones","HP:0006234"]
["Slender metacarpals","HP:0006236"]
["Prominent interphalangeal joints","HP:0006237"]
["Shortening of all middle phalanges of the toes","HP:0006239"]
["Phalangeal dislocation","HP:0006243"]
["Enlarged interphalangeal joints","HP:0006247"]
["Limited wrist movement","HP:0006248"]
["Limited wrist extension","HP:0006251"]
["Interphalangeal joint erosions","HP:0006252"]
["Swelling of proximal interphalangeal joints","HP:0006253"]
["Elevated alpha-fetoprotein","HP:0006254"]
["Abnormality of hand joint mobility","HP:0006256"]
["Abnormality of carpal bone ossification","HP:0006257"]
["Abnormal phalangeal joint morphology of the hand","HP:0006261"]
["Aplasia/Hypoplasia of the 5th finger","HP:0006262"]
["Abnormality of the epiphyses of the 2nd finger","HP:0006263"]
["Aplasia/Hypoplasia of the 2nd finger","HP:0006264"]
["Aplasia/Hypoplasia of fingers","HP:0006265"]
["Small placenta","HP:0006266"]
["Large placenta","HP:0006267"]
["Fluctuating splenomegaly","HP:0006268"]
["Hypoplastic spleen","HP:0006270"]
["Pancreatic lymphangiectasis","HP:0006273"]
["Reduced pancreatic beta cells","HP:0006274"]
["Hyperechogenic pancreas","HP:0006276"]
["Pancreatic hyperplasia","HP:0006277"]
["Ectopic pancreatic tissue","HP:0006278"]
["Beta-cell dysfunction","HP:0006279"]
["Chronic pancreatitis","HP:0006280"]
["Generalized hypoplasia of dental enamel","HP:0006282"]
["Multiple unerupted teeth","HP:0006283"]
["Enamel hypomineralization","HP:0006285"]
["Yellow-brown discoloration of the teeth","HP:0006286"]
["Advanced eruption of teeth","HP:0006288"]
["Agenesis of central incisor","HP:0006289"]
["Discolored lateral incisors","HP:0006290"]
["Marked delay in eruption of permanent teeth","HP:0006291"]
["Abnormality of dental eruption","HP:0006292"]
["Agenesis of maxillary central incisor","HP:0006293"]
["Enamel hypoplasia","HP:0006297"]
["Prolonged bleeding after dental extraction","HP:0006298"]
["Dagger-shaped pulp calcifications","HP:0006302"]
["Widely-spaced incisors","HP:0006304"]
["Atrophy of alveolar ridges","HP:0006308"]
["Generalized microdontia","HP:0006311"]
["Widely spaced primary teeth","HP:0006313"]
["Solitary median maxillary central incisor","HP:0006315"]
["Irregularly spaced teeth","HP:0006316"]
["Multiple non-erupting secondary teeth","HP:0006321"]
["Premature loss of primary teeth","HP:0006323"]
["Buried teeth encased in mucopolysaccharide","HP:0006326"]
["Alveolar process hypoplasia","HP:0006329"]
["Rotated maxillary central incisors","HP:0006330"]
["Supernumerary maxillary incisor","HP:0006332"]
["Crowded maxillary incisors","HP:0006333"]
["Hypoplasia of the primary teeth","HP:0006334"]
["Persistence of primary teeth","HP:0006335"]
["Short dental root","HP:0006336"]
["Premature eruption of permanent teeth","HP:0006337"]
["Malformation of mandibular premolar","HP:0006338"]
["Conical mandibular incisor","HP:0006339"]
["Peg-shaped maxillary lateral incisors","HP:0006342"]
["Abnormality of primary molar morphology","HP:0006344"]
["Screwdriver-shaped incisors","HP:0006346"]
["Microdontia of primary teeth","HP:0006347"]
["Agenesis of permanent teeth","HP:0006349"]
["Pulp obliteration","HP:0006350"]
["Failure of eruption of permanent teeth","HP:0006352"]
["Hypoplasia of the tooth germ","HP:0006353"]
["Agenesis of mandibular central incisor","HP:0006355"]
["Premature loss of permanent teeth","HP:0006357"]
["Shovel-shaped maxillary central incisors","HP:0006358"]
["Irregular femoral epiphysis","HP:0006361"]
["Varus deformity of humeral neck","HP:0006362"]
["Adductor longus contractures","HP:0006366"]
["Crumpled long bones","HP:0006367"]
["Forearm reduction defects","HP:0006368"]
["Irregular patellae","HP:0006369"]
["Distal ulnar epiphyseal stippling","HP:0006370"]
["Broad long bone diaphyses","HP:0006371"]
["Dumbbell-shaped femur","HP:0006375"]
["Limited elbow flexion","HP:0006376"]
["Osteolysis of patellae","HP:0006378"]
["Proximal tibial hypoplasia","HP:0006379"]
["Knee flexion contracture","HP:0006380"]
["Rudimentary fibula","HP:0006381"]
["Progressive bowing of long bones","HP:0006383"]
["Club-shaped distal femur","HP:0006384"]
["Short lower limbs","HP:0006385"]
["Hypoplastic distal radial epiphyses","HP:0006386"]
["Wide distal femoral metaphysis","HP:0006387"]
["Limited knee flexion","HP:0006389"]
["Anterior tibial bowing","HP:0006390"]
["Overtubulated long bones","HP:0006391"]
["Increased density of long bones","HP:0006392"]
["Limited pronation/supination of forearm","HP:0006394"]
["Lateral displacement of patellae","HP:0006397"]
["Flat distal femoral epiphysis","HP:0006398"]
["Absent knee epiphyses","HP:0006400"]
["Distal shortening of limbs","HP:0006402"]
["Club-shaped proximal femur","HP:0006406"]
["Irregular distal femoral epiphysis","HP:0006407"]
["Distal tapering femur","HP:0006408"]
["Progressive leg bowing","HP:0006409"]
["Broad tibial metaphyses","HP:0006413"]
["Distal tibial bowing","HP:0006414"]
["Cortically dense long tubular bones","HP:0006415"]
["Broad femoral metaphyses","HP:0006417"]
["Asymmetric radial dysplasia","HP:0006420"]
["Peg-like central prominence of distal tibial metaphyses","HP:0006423"]
["Elongated radius","HP:0006424"]
["Rudimentary to absent tibiae","HP:0006426"]
["Broad femoral neck","HP:0006429"]
["Proximal femoral metaphyseal abnormality","HP:0006431"]
["Trapezoidal distal femoral condyles","HP:0006432"]
["Radial dysplasia","HP:0006433"]
["Hypoplasia of proximal radius","HP:0006434"]
["obsolete Shortening of the tibia","HP:0006436"]
["Disproportionate prominence of the femoral medial condyle","HP:0006437"]
["Enlargement of the distal femoral epiphysis","HP:0006438"]
["Radioulnar dislocation","HP:0006439"]
["Increased density of long bone diaphyses","HP:0006440"]
["Lateral humeral condyle aplasia","HP:0006441"]
["Hypoplasia of proximal fibula","HP:0006442"]
["Patellar aplasia","HP:0006443"]
["Dysplastic patella","HP:0006446"]
["Distal radial epiphyseal osteolysis","HP:0006449"]
["Multicentric ossification of proximal femoral epiphyses","HP:0006450"]
["Lateral displacement of the femoral head","HP:0006453"]
["Delayed patellar ossification","HP:0006454"]
["Irregular proximal tibial epiphyses","HP:0006456"]
["Dorsal subluxation of ulna","HP:0006459"]
["Increased laxity of ankles","HP:0006460"]
["Proximal femoral epiphysiolysis","HP:0006461"]
["Generalized bone demineralization","HP:0006462"]
["Rickets of the lower limbs","HP:0006463"]
["Periosteal thickening of long tubular bones","HP:0006465"]
["Ankle flexion contracture","HP:0006466"]
["Limited shoulder movement","HP:0006467"]
["Thin long bone diaphyses","HP:0006470"]
["Fixed elbow flexion","HP:0006471"]
["Anterior bowing of long bones","HP:0006473"]
["Abnormality of the pancreatic islet cells","HP:0006476"]
["Abnormality of the alveolar ridges","HP:0006477"]
["Abnormal dental pulp morphology","HP:0006479"]
["Premature loss of teeth","HP:0006480"]
["Abnormality of primary teeth","HP:0006481"]
["Abnormality of dental morphology","HP:0006482"]
["Abnormal number of teeth","HP:0006483"]
["Agenesis of incisor","HP:0006485"]
["Abnormal dental root morphology","HP:0006486"]
["Bowing of the long bones","HP:0006487"]
["Bowing of the arm","HP:0006488"]
["Abnormality of the femoral metaphysis","HP:0006489"]
["Abnormality of lower-limb metaphyses","HP:0006490"]
["Abnormality of the tibial metaphysis","HP:0006491"]
["Aplasia/Hypoplasia of the fibula","HP:0006492"]
["Aplasia/hypoplasia involving bones of the lower limbs","HP:0006493"]
["Aplasia/Hypoplasia involving bones of the feet","HP:0006494"]
["Aplasia/Hypoplasia of the ulna","HP:0006495"]
["Aplasia/hypoplasia involving bones of the upper limbs","HP:0006496"]
["Aplasia/Hypoplasia of the patella","HP:0006498"]
["Abnormality of femoral epiphysis","HP:0006499"]
["Abnormality of lower limb epiphysis morphology","HP:0006500"]
["Aplasia/Hypoplasia of the radius","HP:0006501"]
["Aplasia/Hypoplasia involving the carpal bones","HP:0006502"]
["Aplasia/hypoplasia involving forearm bones","HP:0006503"]
["obsolete Anomaly of the limb diaphyses morphology","HP:0006504"]
["Abnormality of limb epiphysis morphology","HP:0006505"]
["Aplasia/hypoplasia of the humerus","HP:0006507"]
["Abnormality of tibial epiphyses","HP:0006508"]
["Diverticulosis of trachea","HP:0006509"]
["Chronic pulmonary obstruction","HP:0006510"]
["Laryngeal stridor","HP:0006511"]
["Intraalveolar nodular calcifications","HP:0006514"]
["Interstitial pneumonitis","HP:0006515"]
["Hypersensitivity pneumonitis","HP:0006516"]
["Intraalveolar phospholipid accumulation","HP:0006517"]
["Pulmonary venous occlusion","HP:0006518"]
["Alveolar cell carcinoma","HP:0006519"]
["Progressive pulmonary function impairment","HP:0006520"]
["Pulmonary lymphangiectasia","HP:0006521"]
["Repeated pneumothoraces","HP:0006522"]
["Tracheobronchial leiomyomatosis","HP:0006524"]
["obsolete Lung segmentation defects","HP:0006525"]
["Lymphocytic interstitial pneumonia","HP:0006527"]
["Chronic lung disease","HP:0006528"]
["Abnormal pulmonary lymphatics","HP:0006529"]
["Abnormal pulmonary interstitial morphology","HP:0006530"]
["Pleural lymphangiectasia","HP:0006531"]
["Recurrent pneumonia","HP:0006532"]
["Bronchodysplasia","HP:0006533"]
["Recurrent intrapulmonary hemorrhage","HP:0006535"]
["Airway obstruction","HP:0006536"]
["Recurrent bronchopulmonary infections","HP:0006538"]
["Bronchial cartilage hypoplasia","HP:0006539"]
["obsolete Chronic obstructive airway disease from birth","HP:0006541"]
["Cardiorespiratory arrest","HP:0006543"]
["Extrapulmonary sequestrum","HP:0006544"]
["Pulmonary arteriovenous malformation","HP:0006548"]
["Unilateral primary pulmonary dysgenesis","HP:0006549"]
["Fibrocystic lung disease","HP:0006552"]
["Acute hepatic failure","HP:0006554"]
["Diffuse hepatic steatosis","HP:0006555"]
["Polycystic liver disease","HP:0006557"]
["Decreased mitochondrial complex III activity in liver tissue","HP:0006558"]
["Hepatic calcification","HP:0006559"]
["Biliary hyperplasia","HP:0006560"]
["Lipid accumulation in hepatocytes","HP:0006561"]
["Viral hepatitis","HP:0006562"]
["Malformation of the hepatic ductal plate","HP:0006563"]
["Fluctuating hepatomegaly","HP:0006564"]
["Increased hepatocellular lipid droplets","HP:0006565"]
["Neonatal cholestatic liver disease","HP:0006566"]
["Increased hepatic glycogen content","HP:0006568"]
["Reduced number of intrahepatic bile ducts","HP:0006571"]
["Subacute progressive viral hepatitis","HP:0006572"]
["Acute hepatic steatosis","HP:0006573"]
["Hepatic arteriovenous malformation","HP:0006574"]
["Intrahepatic cholestasis with episodic jaundice","HP:0006575"]
["Hepatic vascular malformations","HP:0006576"]
["Macronodular cirrhosis","HP:0006577"]
["Prolonged neonatal jaundice","HP:0006579"]
["Portal fibrosis","HP:0006580"]
["Depletion of mitochondrial DNA in liver","HP:0006581"]
["Reye syndrome-like episodes","HP:0006582"]
["Fatal liver failure in infancy","HP:0006583"]
["Small abnormally formed scapulae","HP:0006584"]
["Congenital pseudoarthrosis of the clavicle","HP:0006585"]
["Straight clavicles","HP:0006587"]
["Flaring of lower rib cage","HP:0006589"]
["Premature sternal synostosis","HP:0006590"]
["Absent glenoid fossa","HP:0006591"]
["Anomalous rib insertion to vertebrae","HP:0006593"]
["Scapulohumeral synostosis","HP:0006595"]
["Restricted chest movement","HP:0006596"]
["Diaphragmatic paralysis","HP:0006597"]
["Irregular ossification at anterior rib ends","HP:0006598"]
["Medial widening of clavicles","HP:0006599"]
["Progressive calcification of costochondral cartilage","HP:0006600"]
["Flared, irregular rib ends","HP:0006603"]
["Irregular chondrocostal junctions","HP:0006606"]
["Precocious costochondral ossification","HP:0006607"]
["Midclavicular hypoplasia","HP:0006608"]
["Wide intermamillary distance","HP:0006610"]
["Decreased number of sternal ossification centers","HP:0006611"]
["Absent in utero rib ossification","HP:0006615"]
["Anterior rib punctate calcifications","HP:0006619"]
["Costochondral joint sclerosis","HP:0006623"]
["Multifocal breast carcinoma","HP:0006625"]
["Absent sternal ossification","HP:0006628"]
["Hypoplastic distal segments of scapulae","HP:0006631"]
["Glenoid fossa hypoplasia","HP:0006633"]
["Osteosclerosis of ribs","HP:0006634"]
["Sternal punctate calcifications","HP:0006637"]
["Midclavicular aplasia","HP:0006638"]
["Multiple rib fractures","HP:0006640"]
["Prominent floating ribs","HP:0006641"]
["Large sternal ossification centers","HP:0006642"]
["Fused sternal ossification centers","HP:0006643"]
["Thoracic dysplasia","HP:0006644"]
["Thin clavicles","HP:0006645"]
["Costal cartilage calcification","HP:0006646"]
["Congenital microthorax","HP:0006647"]
["Costochondral pain","HP:0006649"]
["Thickening of the lateral border of the scapula","HP:0006650"]
["Rib segmentation abnormalities","HP:0006655"]
["Hypoplasia of first ribs","HP:0006657"]
["Internally rotated shoulders","HP:0006659"]
["Aplastic clavicle","HP:0006660"]
["Coat hanger sign of ribs","HP:0006665"]
["Twelfth rib hypoplasia","HP:0006668"]
["Impaired myocardial contractility","HP:0006670"]
["Paroxysmal atrial tachycardia","HP:0006671"]
["Reduced systolic function","HP:0006673"]
["Prolonged QRS complex","HP:0006677"]
["Granulomatous coronary arteritis","HP:0006679"]
["Absent atrioventricular node","HP:0006681"]
["Ventricular extrasystoles","HP:0006682"]
["Abnormal ventricular filling","HP:0006683"]
["Ventricular preexcitation with multiple accessory pathways","HP:0006684"]
["Endocardial fibrosis","HP:0006685"]
["Aortic tortuosity","HP:0006687"]
["Paroxysmal tachycardia","HP:0006688"]
["Bacterial endocarditis","HP:0006689"]
["Myocardial calcification","HP:0006690"]
["Pulmonic valve myxoma","HP:0006691"]
["Short chordae tendineae of the tricuspid valve","HP:0006692"]
["Myocardial steatosis","HP:0006693"]
["Early progressive calcific cardiac valvular disease","HP:0006694"]
["Atrioventricular canal defect","HP:0006695"]
["Polymorphic and polytopic ventricular extrasystoles","HP:0006696"]
["Dilatation of the ventricular cavity","HP:0006698"]
["Premature atrial contractions","HP:0006699"]
["Coronary artery dissection","HP:0006702"]
["Aplasia/Hypoplasia of the lungs","HP:0006703"]
["Abnormal coronary artery morphology","HP:0006704"]
["Abnormal atrioventricular valve morphology","HP:0006705"]
["Cystic liver disease","HP:0006706"]
["Abnormality of the hepatic vasculature","HP:0006707"]
["Aplasia/Hypoplasia of the nipples","HP:0006709"]
["Aplasia/Hypoplasia of the clavicles","HP:0006710"]
["Aplasia/Hypoplasia involving bones of the thorax","HP:0006711"]
["Aplasia/Hypoplasia of the ribs","HP:0006712"]
["Aplasia/Hypoplasia of the scapulae","HP:0006713"]
["Aplasia/Hypoplasia of the sternum","HP:0006714"]
["Glomus tympanicum paraganglioma","HP:0006715"]
["Hereditary nonpolyposis colorectal carcinoma","HP:0006716"]
["Peripheral neuroepithelioma","HP:0006717"]
["Benign gastrointestinal tract tumors","HP:0006719"]
["Acute lymphoblastic leukemia","HP:0006721"]
["Small intestine carcinoid","HP:0006722"]
["Intestinal carcinoid","HP:0006723"]
["Pancreatic adenocarcinoma","HP:0006725"]
["T-cell acute lymphoblastic leukemias","HP:0006727"]
["Retroperitoneal chemodectomas","HP:0006729"]
["Follicular thyroid carcinoma","HP:0006731"]
["Papillary renal cell carcinoma type 2","HP:0006732"]
["Acute megakaryocytic leukemia","HP:0006733"]
["Renal cortical adenoma","HP:0006735"]
["Extraadrenal pheochromocytoma","HP:0006737"]
["Squamous cell carcinoma of the skin","HP:0006739"]
["Transitional cell carcinoma of the bladder","HP:0006740"]
["Congenital neuroblastoma","HP:0006742"]
["Embryonal rhabdomyosarcoma","HP:0006743"]
["Adrenocortical carcinoma","HP:0006744"]
["Ganglioneuroblastoma","HP:0006747"]
["Adrenal pheochromocytoma","HP:0006748"]
["Malignant gastrointestinal tract tumors","HP:0006749"]
["Paraspinal neurofibromas","HP:0006751"]
["Neoplasm of the stomach","HP:0006753"]
["Cutaneous leiomyosarcoma","HP:0006755"]
["Diffuse leiomyomatosis","HP:0006756"]
["Malignant genitourinary tract tumor","HP:0006758"]
["Renal pelvic carcinoma","HP:0006762"]
["Anal canal squamous carcinoma","HP:0006763"]
["Chondrosarcoma","HP:0006765"]
["Papillary renal cell carcinoma","HP:0006766"]
["Pituitary prolactin cell adenoma","HP:0006767"]
["Localized neuroblastoma","HP:0006768"]
["Myxoid subcutaneous tumors","HP:0006769"]
["Clear cell renal cell carcinoma","HP:0006770"]
["Duodenal adenocarcinoma","HP:0006771"]
["Renal angiomyolipoma","HP:0006772"]
["Cutaneous angiolipomas","HP:0006773"]
["Ovarian papillary adenocarcinoma","HP:0006774"]
["Multiple myeloma","HP:0006775"]
["Benign genitourinary tract neoplasm","HP:0006778"]
["Alveolar rhabdomyosarcoma","HP:0006779"]
["Parathyroid carcinoma","HP:0006780"]
["Hurthle cell thyroid adenoma","HP:0006781"]
["Malignant eosinophil proliferation","HP:0006782"]
["Posterior pharyngeal cleft","HP:0006783"]
["Paranasal sinus hypoplasia","HP:0006784"]
["Limb-girdle muscular dystrophy","HP:0006785"]
["Mitochondrial encephalopathy","HP:0006789"]
["Cerebral cortex with spongiform changes","HP:0006790"]
["Loss of ability to walk in first decade","HP:0006794"]
["Basal ganglia cysts","HP:0006799"]
["Hyperactive deep tendon reflexes","HP:0006801"]
["Abnormal anterior horn cell morphology","HP:0006802"]
["Vivid hallucinations","HP:0006803"]
["Cerebral hypomyelination","HP:0006808"]
["White mater abnormalities in the posterior periventricular region","HP:0006812"]
["Focal hemiclonic seizure","HP:0006813"]
["Aplasia/Hypoplasia of the cerebellar vermis","HP:0006817"]
["4-layered lissencephaly","HP:0006818"]
["Frontal polymicrogyria","HP:0006821"]
["Cranial nerve paralysis","HP:0006824"]
["Pallor of dorsal columns of the spinal cord","HP:0006825"]
["Atrophy of the spinal cord","HP:0006827"]
["Severe muscular hypotonia","HP:0006829"]
["obsolete Severe neonatal hypotonia in males","HP:0006830"]
["Developmental stagnation at onset of seizures","HP:0006834"]
["Congenital Horner syndrome","HP:0006837"]
["Absent patellar reflexes","HP:0006844"]
["Acute encephalopathy","HP:0006846"]
["Hypodysplasia of the corpus callosum","HP:0006849"]
["Hypoplasia of the ventral pons","HP:0006850"]
["Symmetric spinal nerve root neurofibromas","HP:0006851"]
["Episodic generalized hypotonia","HP:0006852"]
["Cerebellar vermis atrophy","HP:0006855"]
["Impaired distal proprioception","HP:0006858"]
["Posterior leukoencephalopathy","HP:0006859"]
["Severe expressive language delay","HP:0006863"]
["Sensorimotor polyneuropathy affecting arms more than legs","HP:0006865"]
["Midline central nervous system lipomas","HP:0006866"]
["Lobar holoprosencephaly","HP:0006870"]
["Cerebral hypoplasia","HP:0006872"]
["Symmetrical progressive peripheral demyelination","HP:0006873"]
["obsolete Mental retardation, in some","HP:0006877"]
["Pontocerebellar atrophy","HP:0006879"]
["Cerebellar hemangioblastoma","HP:0006880"]
["Diffuse peripheral demyelination","HP:0006881"]
["Severe hydrocephalus","HP:0006882"]
["Impaired distal vibration sensation","HP:0006886"]
["Intellectual disability, progressive","HP:0006887"]
["Meningoencephalocele","HP:0006888"]
["Intellectual disability, borderline","HP:0006889"]
["Thick cerebral cortex","HP:0006891"]
["Frontotemporal cerebral atrophy","HP:0006892"]
["obsolete Severely dysplastic cerebellum","HP:0006893"]
["Hypoplastic olfactory lobes","HP:0006894"]
["Lower limb hypertonia","HP:0006895"]
["Hypnopompic hallucinations","HP:0006896"]
["Abducens palsy","HP:0006897"]
["Fusion of the cerebellar hemispheres","HP:0006899"]
["obsolete Impaired thermal sensitivity","HP:0006901"]
["Congenital peripheral neuropathy","HP:0006903"]
["Late-onset spinocerebellar degeneration","HP:0006904"]
["Congenital intracerebral calcification","HP:0006906"]
["Frontal cortical atrophy","HP:0006913"]
["Inability to walk by childhood/adolescence","HP:0006915"]
["Intraaxonal accumulation of curvilinear autofluorescent lipopigment storage material","HP:0006916"]
["Diffuse cerebral sclerosis","HP:0006918"]
["Abnormal aggressive, impulsive or violent behavior","HP:0006919"]
["Axial muscle stiffness","HP:0006921"]
["Metachromatic leukodystrophy variant","HP:0006926"]
["Unilateral polymicrogyria","HP:0006927"]
["Hypoglycemic encephalopathy","HP:0006929"]
["Frontoparietal cortical dysplasia","HP:0006930"]
["Lipoma of corpus callosum","HP:0006931"]
["Transient psychotic episodes","HP:0006932"]
["Congenital nystagmus","HP:0006934"]
["Impaired distal tactile sensation","HP:0006937"]
["Impaired vibration sensation at ankles","HP:0006938"]
["Diffuse spongiform leukoencephalopathy","HP:0006943"]
["Abolished vibration sense","HP:0006944"]
["Recurrent meningitis","HP:0006946"]
["Episodic peripheral neuropathy","HP:0006949"]
["Retrocerebellar cyst","HP:0006951"]
["Olivopontocerebellar hypoplasia","HP:0006955"]
["Dilation of lateral ventricles","HP:0006956"]
["Loss of ability to walk","HP:0006957"]
["Abnormal auditory evoked potentials","HP:0006958"]
["Proximal spinal muscular atrophy","HP:0006959"]
["Choroid plexus calcification","HP:0006960"]
["Jerky head movements","HP:0006961"]
["Gait instability, worse in the dark","HP:0006962"]
["Cerebral cortical neurodegeneration","HP:0006964"]
["Acute necrotizing encephalopathy","HP:0006965"]
["Periventricular leukomalacia","HP:0006970"]
["Necrotizing encephalopathy","HP:0006976"]
["Grammar-specific speech disorder","HP:0006977"]
["Dysmyelinating leukodystrophy","HP:0006978"]
["Sleep-wake cycle disturbance","HP:0006979"]
["Progressive leukoencephalopathy","HP:0006980"]
["Slowly progressive spastic quadriparesis","HP:0006983"]
["Distal sensory loss of all modalities","HP:0006984"]
["Upper limb spasticity","HP:0006986"]
["Alobar holoprosencephaly","HP:0006988"]
["Dysplastic corpus callosum","HP:0006989"]
["Myelin-dependent gliosis","HP:0006990"]
["Anterior basal encephalocele","HP:0006992"]
["Diffuse leukoencephalopathy","HP:0006994"]
["Basal ganglia gliosis","HP:0006999"]
["Morning myoclonic jerks","HP:0007000"]
["Loss of Purkinje cells in the cerebellar vermis","HP:0007001"]
["Motor axonal neuropathy","HP:0007002"]
["Dorsal column degeneration","HP:0007006"]
["Cavitation of the basal ganglia","HP:0007007"]
["Central nervous system degeneration","HP:0007009"]
["Poor fine motor coordination","HP:0007010"]
["Fourth cranial nerve palsy","HP:0007011"]
["Poor gross motor coordination","HP:0007015"]
["Corticospinal tract hypoplasia","HP:0007016"]
["Progressive forgetfulness","HP:0007017"]
["Attention deficit hyperactivity disorder","HP:0007018"]
["Progressive spastic paraplegia","HP:0007020"]
["Pain insensitivity","HP:0007021"]
["Antenatal intracerebral hemorrhage","HP:0007023"]
["Pseudobulbar paralysis","HP:0007024"]
["Poorly formed metencephalon","HP:0007027"]
["Cerebral berry aneurysm","HP:0007029"]
["Nonprogressive encephalopathy","HP:0007030"]
["Cerebellar dysplasia","HP:0007033"]
["Generalized hyperreflexia","HP:0007034"]
["Anterior encephalocele","HP:0007035"]
["Hypoplasia of olfactory tract","HP:0007036"]
["Symmetric lesions of the basal ganglia","HP:0007039"]
["Chronic lymphocytic meningitis","HP:0007041"]
["Focal white matter lesions","HP:0007042"]
["Midline brain calcifications","HP:0007045"]
["Atrophy of the dentate nucleus","HP:0007047"]
["Large basal ganglia","HP:0007048"]
["Multifocal cerebral white matter abnormalities","HP:0007052"]
["Hyperreflexia proximally","HP:0007054"]
["Poor hand-eye coordination","HP:0007057"]
["Generalized cerebral atrophy/hypoplasia","HP:0007058"]
["Aplasia of the inferior half of the cerebellar vermis","HP:0007063"]
["Progressive language deterioration","HP:0007064"]
["Disorganization of the anterior cerebellar vermis","HP:0007065"]
["Proximal limb muscle stiffness","HP:0007066"]
["Distal peripheral sensory neuropathy","HP:0007067"]
["Inferior vermis hypoplasia","HP:0007068"]
["Profound static encephalopathy","HP:0007069"]
["Thick corpus callosum","HP:0007074"]
["Extrapyramidal muscular rigidity","HP:0007076"]
["Decreased amplitude of sensory action potentials","HP:0007078"]
["Late-onset muscular dystrophy","HP:0007081"]
["Dilated third ventricle","HP:0007082"]
["Hyperactive patellar reflex","HP:0007083"]
["Social and occupational deterioration","HP:0007086"]
["obsolete Involuntary jerking movements","HP:0007087"]
["Facial-lingual fasciculations","HP:0007089"]
["obsolete Frontoparietal polymicrogyria","HP:0007095"]
["Hypoplasia of the optic tract","HP:0007096"]
["Cranial nerve motor loss","HP:0007097"]
["Paroxysmal choreoathetosis","HP:0007098"]
["Arnold-Chiari type I malformation","HP:0007099"]
["Progressive ventriculomegaly","HP:0007100"]
["Hypointensity of cerebral white matter on MRI","HP:0007103"]
["Prolonged somatosensory evoked potentials","HP:0007104"]
["Infantile encephalopathy","HP:0007105"]
["Segmental peripheral demyelination","HP:0007107"]
["Demyelinating peripheral neuropathy","HP:0007108"]
["Periventricular cysts","HP:0007109"]
["Central hypoventilation","HP:0007110"]
["Chronic hepatic encephalopathy","HP:0007111"]
["Temporal cortical atrophy","HP:0007112"]
["Orbital encephalocele","HP:0007115"]
["Corticospinal tract atrophy","HP:0007117"]
["Subcortical dementia","HP:0007123"]
["Proximal amyotrophy","HP:0007126"]
["Cerebellar medulloblastoma","HP:0007129"]
["Acute demyelinating polyneuropathy","HP:0007131"]
["Pallidal degeneration","HP:0007132"]
["Progressive peripheral neuropathy","HP:0007133"]
["Sensorimotor neuropathy","HP:0007141"]
["Bilateral basal ganglia lesions","HP:0007146"]
["Distal upper limb amyotrophy","HP:0007149"]
["Progressive extrapyramidal movement disorder","HP:0007153"]
["Asymmetric limb muscle stiffness","HP:0007156"]
["Progressive extrapyramidal muscular rigidity","HP:0007158"]
["Fluctuations in consciousness","HP:0007159"]
["Diffuse demyelination of the cerebral white matter","HP:0007162"]
["obsolete Corticospinal tract disease in lower limbs","HP:0007163"]
["Slowed slurred speech","HP:0007164"]
["Periventricular heterotopia","HP:0007165"]
["Paroxysmal dyskinesia","HP:0007166"]
["Motor polyneuropathy","HP:0007178"]
["Absent smooth pursuit","HP:0007179"]
["Interosseus muscle atrophy","HP:0007181"]
["Peripheral hypomyelination","HP:0007182"]
["Focal T2 hyperintense basal ganglia lesion","HP:0007183"]
["Loss of consciousness","HP:0007185"]
["Focal lissencephaly","HP:0007187"]
["Congenital facial diplegia","HP:0007188"]
["Neuronal loss in the cerebral cortex","HP:0007190"]
["Bilateral tonic-clonic seizure on awakening","HP:0007193"]
["Progressive spastic paraparesis","HP:0007199"]
["Episodic hypersomnia","HP:0007200"]
["Cerebral artery atherosclerosis","HP:0007201"]
["Diffuse white matter abnormalities","HP:0007204"]
["Hemimegalencephaly","HP:0007206"]
["Photosensitive tonic-clonic seizure","HP:0007207"]
["Irregular myelin loops","HP:0007208"]
["Facial paralysis","HP:0007209"]
["Lower limb amyotrophy","HP:0007210"]
["Periodic hyperkalemic paralysis","HP:0007215"]
["Demyelinating motor neuropathy","HP:0007220"]
["Progressive truncal ataxia","HP:0007221"]
["Macrogyria","HP:0007227"]
["Intracerebral periventricular calcifications","HP:0007229"]
["Decreased distal sensory nerve action potential","HP:0007230"]
["Spinocerebellar tract disease in lower limbs","HP:0007232"]
["Clusters of axonal regeneration","HP:0007233"]
["Recurrent subcortical infarcts","HP:0007236"]
["Nonarteriosclerotic cerebral calcification","HP:0007238"]
["Congenital encephalopathy","HP:0007239"]
["Progressive gait ataxia","HP:0007240"]
["Decreased number of small peripheral myelinated nerve fibers","HP:0007249"]
["Recurrent external ophthalmoplegia","HP:0007250"]
["Abnormal pyramidal sign","HP:0007256"]
["Severe demyelination of the white matter","HP:0007258"]
["Type II lissencephaly","HP:0007260"]
["Symmetric peripheral demyelination","HP:0007262"]
["Spinocerebellar atrophy","HP:0007263"]
["Absent mesencephalon","HP:0007265"]
["Cerebral dysmyelination","HP:0007266"]
["Chronic axonal neuropathy","HP:0007267"]
["Aprosencephaly","HP:0007268"]
["Spinal muscular atrophy","HP:0007269"]
["Atypical absence seizure","HP:0007270"]
["Occipital myelomeningocele","HP:0007271"]
["Progressive psychomotor deterioration","HP:0007272"]
["Recurrent bacterial meningitis","HP:0007274"]
["Paucity of anterior horn motor neurons","HP:0007277"]
["Acute infantile spinal muscular atrophy","HP:0007280"]
["Developmental stagnation","HP:0007281"]
["Facial palsy secondary to cranial hyperostosis","HP:0007285"]
["Horizontal jerk nystagmus","HP:0007286"]
["Limb fasciculations","HP:0007289"]
["Posterior fossa cyst","HP:0007291"]
["Anterior sacral meningocele","HP:0007293"]
["Chaotic rapid conjugate ocular movements","HP:0007295"]
["Dysfunction of lateral corticospinal tracts","HP:0007299"]
["Oromotor apraxia","HP:0007301"]
["Bipolar affective disorder","HP:0007302"]
["CNS demyelination","HP:0007305"]
["Rapid neurologic deterioration","HP:0007307"]
["Extrapyramidal dyskinesia","HP:0007308"]
["Short stepped shuffling gait","HP:0007311"]
["Cerebral degeneration","HP:0007313"]
["obsolete White matter neuronal heterotopia","HP:0007314"]
["obsolete Involuntary writhing movements","HP:0007316"]
["Deep white matter hypodensities","HP:0007321"]
["Generalized dystonia","HP:0007325"]
["Progressive choreoathetosis","HP:0007326"]
["Mixed demyelinating and axonal polyneuropathy","HP:0007327"]
["Impaired pain sensation","HP:0007328"]
["Frontal encephalocele","HP:0007330"]
["Focal hemifacial clonic seizure","HP:0007332"]
["Hypoplasia of the frontal lobes","HP:0007333"]
["Bilateral tonic-clonic seizure with focal onset","HP:0007334"]
["Recurrent encephalopathy","HP:0007335"]
["Hypermetric saccades","HP:0007338"]
["Lower limb muscle weakness","HP:0007340"]
["Diffuse swelling of cerebral white matter","HP:0007341"]
["Abnormal morphology of the limbic system","HP:0007343"]
["Atrophy/Degeneration involving the spinal cord","HP:0007344"]
["Subcortical white matter calcifications","HP:0007346"]
["Hypoplasia of the pyramidal tract","HP:0007348"]
["Hyperreflexia in upper limbs","HP:0007350"]
["Upper limb postural tremor","HP:0007351"]
["Cerebellar calcifications","HP:0007352"]
["Amyotrophic lateral sclerosis","HP:0007354"]
["Focal-onset seizure","HP:0007359"]
["Aplasia/Hypoplasia of the cerebellum","HP:0007360"]
["Abnormal pons morphology","HP:0007361"]
["Aplasia/Hypoplasia of the brainstem","HP:0007362"]
["Aplasia/Hypoplasia of the pyramidal tract","HP:0007363"]
["Aplasia/Hypoplasia of the cerebrum","HP:0007364"]
["Aplasia/Hypoplasia involving the corticospinal tracts","HP:0007365"]
["Atrophy/Degeneration affecting the brainstem","HP:0007366"]
["Atrophy/Degeneration affecting the central nervous system","HP:0007367"]
["Atrophy/Degeneration affecting the cerebrum","HP:0007369"]
["Aplasia/Hypoplasia of the corpus callosum","HP:0007370"]
["Corpus callosum atrophy","HP:0007371"]
["Atrophy/Degeneration involving the corticospinal tracts","HP:0007372"]
["Motor neuron atrophy","HP:0007373"]
["Atrophy/Degeneration involving the caudate nucleus","HP:0007374"]
["Abnormality of the septum pellucidum","HP:0007375"]
["Abnormal choroid plexus morphology","HP:0007376"]
["Abnormality of somatosensory evoked potentials","HP:0007377"]
["Neoplasm of the gastrointestinal tract","HP:0007378"]
["Neoplasm of the genitourinary tract","HP:0007379"]
["Facial telangiectasia","HP:0007380"]
["Congenital exfoliative erythroderma","HP:0007381"]
["Congenital localized absence of skin","HP:0007383"]
["Aberrant melanosome maturation","HP:0007384"]
["Aplasia cutis congenita of scalp","HP:0007385"]
["Hypoplastic sweat glands","HP:0007387"]
["Hyperkeratosis with erythema","HP:0007390"]
["Excessive wrinkled skin","HP:0007392"]
["Prominent superficial blood vessels","HP:0007394"]
["Postnatal-onset ichthyosiform erythroderma","HP:0007395"]
["Early cutaneous photosensitivity","HP:0007396"]
["Axillary apocrine gland hypoplasia","HP:0007397"]
["Asymmetric, linear skin defects","HP:0007398"]
["Irregular hyperpigmentation","HP:0007400"]
["Macular atrophy","HP:0007401"]
["Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko lines","HP:0007402"]
["Hypertrophy of skin of soles","HP:0007403"]
["Nonepidermolytic palmoplantar hyperkeratosis","HP:0007404"]
["Hyperpigmentation of eyelids","HP:0007406"]
["Excessive skin wrinkling on dorsum of hands and fingers","HP:0007407"]
["Tegumentary leishmaniasis susceptibility","HP:0007408"]
["obsolete Absence of subcutaneous fat over entire body except buttocks, hips, and thighs","HP:0007409"]
["Palmoplantar hyperhidrosis","HP:0007410"]
["Hypoplastic-absent sebaceous glands","HP:0007411"]
["Macular hyperpigmented dermopathy","HP:0007412"]
["Nevus flammeus of the forehead","HP:0007413"]
["Neonatal wrinkled skin of hands and feet","HP:0007414"]
["Discoid lupus rash","HP:0007417"]
["Alopecia totalis","HP:0007418"]
["Spontaneous hematomas","HP:0007420"]
["Telangiectases of the cheeks","HP:0007421"]
["Hyperextensible skin of face","HP:0007425"]
["Reticulated skin pigmentation","HP:0007427"]
["Telangiectasia of the oral mucosa","HP:0007428"]
["Few cafe-au-lait spots","HP:0007429"]
["Generalized edema","HP:0007430"]
["Congenital ichthyosiform erythroderma","HP:0007431"]
["Intermittent generalized erythematous papular rash","HP:0007432"]
["Plaque-like facial hemangioma","HP:0007434"]
["obsolete Diffuse palmoplantar keratoderma","HP:0007435"]
["Hair-nail ectodermal dysplasia","HP:0007436"]
["Multiple cutaneous leiomyomas","HP:0007437"]
["Mottled pigmentation of the trunk and proximal extremities","HP:0007438"]
["Generalized keratosis follicularis","HP:0007439"]
["Generalized hyperpigmentation","HP:0007440"]
["Hyperpigmented/hypopigmented macules","HP:0007441"]
["Partial albinism","HP:0007443"]
["Palmoplantar blistering","HP:0007446"]
["Diffuse palmoplantar hyperkeratosis","HP:0007447"]
["Hyperkeratosis over edematous areas","HP:0007448"]
["Confetti-like hypopigmented macules","HP:0007449"]
["Increased groin pigmentation with raindrop depigmentation","HP:0007450"]
["Ipsilateral lack of facial sweating","HP:0007451"]
["Midface capillary hemangioma","HP:0007452"]
["Flexural lichenification","HP:0007453"]
["Adermatoglyphia","HP:0007455"]
["Progressive reticulate hyperpigmentation","HP:0007456"]
["Prominent veins on trunk","HP:0007457"]
["Focal hyperextensible skin","HP:0007458"]
["Generalized anhidrosis","HP:0007459"]
["Autoamputation of digits","HP:0007460"]
["Hemangiomatosis","HP:0007461"]
["Bitot spots of the conjunctiva","HP:0007462"]
["Sparse facial hair","HP:0007464"]
["Honeycomb palmoplantar hyperkeratosis","HP:0007465"]
["Midfrontal capillary hemangioma","HP:0007466"]
["Perifollicular hyperkeratosis","HP:0007468"]
["Palmoplantar cutis gyrata","HP:0007469"]
["Periarticular subcutaneous nodules","HP:0007470"]
["Axillary and groin hyperpigmentation and hypopigmentation","HP:0007471"]
["Crusting erythematous dermatitis","HP:0007473"]
["Congenital bullous ichthyosiform erythroderma","HP:0007475"]
["Anhidrotic ectodermal dysplasia","HP:0007476"]
["Abnormal dermatoglyphics","HP:0007477"]
["Congenital nonbullous ichthyosiform erythroderma","HP:0007479"]
["Decreased sweating due to autonomic dysfunction","HP:0007480"]
["Hyperpigmented nevi","HP:0007481"]
["Generalized papillary lesions","HP:0007482"]
["Depigmentation/hyperpigmentation of skin","HP:0007483"]
["Absence of subcutaneous fat","HP:0007485"]
["Cavernous hemangioma of the face","HP:0007486"]
["Diffuse skin atrophy","HP:0007488"]
["Diffuse telangiectasia","HP:0007489"]
["Linear arrays of macular hyperkeratoses in flexural areas","HP:0007490"]
["Discrete 2 to 5-mm hyper- and hypopigmented macules","HP:0007494"]
["Prematurely aged appearance","HP:0007495"]
["Focal friction-related palmoplantar hyperkeratosis","HP:0007497"]
["Recurrent staphylococcal infections","HP:0007499"]
["Decreased number of sweat glands","HP:0007500"]
["Streaks of hyperkeratosis along each finger onto the palm","HP:0007501"]
["Follicular hyperkeratosis","HP:0007502"]
["Generalized ichthyosis","HP:0007503"]
["Diffuse slow skin atrophy","HP:0007504"]
["Progressive hyperpigmentation","HP:0007505"]
["Congenital absence of skin of limbs","HP:0007506"]
["Punctate palmar hyperkeratosis","HP:0007508"]
["Patchy hypo- and hyperpigmentation","HP:0007509"]
["Focal dermal aplasia/hypoplasia","HP:0007510"]
["Mottled pigmentation of photoexposed areas","HP:0007511"]
["Generalized hypopigmentation","HP:0007513"]
["Edema of the dorsum of hands","HP:0007514"]
["Hypoplastic pilosebaceous units","HP:0007515"]
["Redundant skin on fingers","HP:0007516"]
["Palmoplantar cutis laxa","HP:0007517"]
["obsolete Lack of subcutaneous fatty tissue","HP:0007519"]
["Irregular hyperpigmentation of back","HP:0007521"]
["Increased number of skin folds","HP:0007522"]
["Atypical neurofibromatosis","HP:0007524"]
["Yellow subcutaneous tissue covered by thin, scaly skin","HP:0007525"]
["Hypopigmented skin patches on arms","HP:0007526"]
["Hidrotic ectodermal dysplasia","HP:0007529"]
["Punctate palmoplantar hyperkeratosis","HP:0007530"]
["Congenital posterior occipital alopecia","HP:0007534"]
["Hypopigmented streaks","HP:0007535"]
["Aplasia cutis congenita of midline scalp vertex","HP:0007536"]
["Severe photosensitivity","HP:0007537"]
["Frontal cutaneous lipoma","HP:0007541"]
["Absent pigmentation of the ventral chest","HP:0007542"]
["Epidermal hyperkeratosis","HP:0007543"]
["Piebaldism","HP:0007544"]
["Congenital palmoplantar hyperkeratosis","HP:0007545"]
["Linear hyperpigmentation","HP:0007546"]
["Palmoplantar keratosis with erythema and scale","HP:0007548"]
["Desquamation of skin soon after birth","HP:0007549"]
["Hypohidrosis or hyperhidrosis","HP:0007550"]
["Abnormal subcutaneous fat tissue distribution","HP:0007552"]
["Congenital symmetrical palmoplantar keratosis","HP:0007553"]
["Confetti hypopigmentation pattern of lower leg skin","HP:0007554"]
["Plantar hyperkeratosis","HP:0007556"]
["Localized epidermolytic hyperkeratosis","HP:0007559"]
["Unusual dermatoglyphics","HP:0007560"]
["Telangiectases in sun-exposed and nonexposed skin","HP:0007561"]
["Multiple cafe-au-lait spots","HP:0007565"]
["Index finger dermatoglyphic radial loop","HP:0007566"]
["Generalized seborrheic dermatitis","HP:0007569"]
["Hyperkeratosis lenticularis perstans","HP:0007570"]
["Hyperpigmented streaks","HP:0007572"]
["Late onset atopic dermatitis","HP:0007573"]
["Generalized bronze hyperpigmentation","HP:0007574"]
["Palmar neurofibromas","HP:0007576"]
["Mediosternal, longitudinal streak of hypopigmentation","HP:0007581"]
["Telangiectasia macularis eruptiva perstans","HP:0007583"]
["Skin fragility with non-scarring blistering","HP:0007585"]
["Telangiectases producing 'marbled' skin","HP:0007586"]
["Numerous pigmented freckles","HP:0007587"]
["Reticular hyperpigmentation","HP:0007588"]
["Aplasia cutis congenita on trunk or limbs","HP:0007589"]
["Aplasia cutis congenita over posterior parietal area","HP:0007590"]
["Aplasia/Hypoplastia of the eccrine sweat glands","HP:0007592"]
["Redundant skin in infancy","HP:0007595"]
["Painful subcutaneous lipomas","HP:0007596"]
["obsolete Congenital palmoplantar keratodermia","HP:0007597"]
["Bilateral single transverse palmar creases","HP:0007598"]
["Generalized reticulate brown pigmentation","HP:0007599"]
["Midline facial capillary hemangioma","HP:0007601"]
["Complex palmar dermatoglyphic pattern","HP:0007602"]
["Freckles in sun-exposed areas","HP:0007603"]
["Excessive wrinkling of palmar skin","HP:0007605"]
["Multiple cutaneous malignancies","HP:0007606"]
["Hypohidrotic ectodermal dysplasia","HP:0007607"]
["Abnormal palmar dermal ridges","HP:0007608"]
["Hypoproteinemic edema","HP:0007609"]
["Blotching pigmentation of the skin","HP:0007610"]
["Spinous keratoses of palms and soles","HP:0007613"]
["Nevus flammeus nuchae","HP:0007616"]
["Fine, reticulate skin pigmentation","HP:0007617"]
["Subcutaneous calcification","HP:0007618"]
["Cutaneous leiomyoma","HP:0007620"]
["Telangiectasia of extensor surfaces","HP:0007621"]
["Pigmentation anomalies of sun-exposed skin","HP:0007623"]
["Mandibular osteomyelitis","HP:0007626"]
["Mandibular condyle aplasia","HP:0007627"]
["Mandibular condyle hypoplasia","HP:0007628"]
["Bilateral microphthalmos","HP:0007633"]
["Nonarteritic anterior ischemic optic neuropathy","HP:0007634"]
["Dyschromatopsia","HP:0007641"]
["Congenital stationary night blindness","HP:0007642"]
["Peripheral tractional retinal detachment","HP:0007643"]
["Absent lower eyelashes","HP:0007646"]
["Congenital extraocular muscle anomaly","HP:0007647"]
["Punctate cataract","HP:0007648"]
["Congenital hypertrophy of retinal pigment epithelium","HP:0007649"]
["Progressive ophthalmoplegia","HP:0007650"]
["Ectropion of lower eyelids","HP:0007651"]
["obsolete Retinal striation","HP:0007654"]
["Eversion of lateral third of lower eyelids","HP:0007655"]
["Lacrimal gland aplasia","HP:0007656"]
["Diffuse nuclear cataract","HP:0007657"]
["Large hyperpigmented retinal spots","HP:0007658"]
["obsolete Decreased retinal pigmentation with dispersion","HP:0007659"]
["Abnormality of chorioretinal pigmentation","HP:0007661"]
["Reduced visual acuity","HP:0007663"]
["Curly eyelashes","HP:0007665"]
["Peripheral cystoid retinal degeneration","HP:0007667"]
["Impaired pursuit initiation and maintenance","HP:0007668"]
["Abnormal vestibulo-ocular reflex","HP:0007670"]
["Progressive night blindness","HP:0007675"]
["Hypoplasia of the iris","HP:0007676"]
["Vitelliform-like macular lesions","HP:0007677"]
["Lacrimal duct stenosis","HP:0007678"]
["Depigmented fundus","HP:0007680"]
["Peripheral retinal avascularization","HP:0007685"]
["Abnormal pupillary function","HP:0007686"]
["Unilateral ptosis","HP:0007687"]
["Undetectable light- and dark-adapted electroretinogram","HP:0007688"]
["Map-dot-fingerprint corneal dystrophy","HP:0007690"]
["obsolete Short curly eyelashes","HP:0007691"]
["obsolete Nonnuclear polymorphic congenital cataract","HP:0007692"]
["Abnormal pupillary light reflex","HP:0007695"]
["Hypoplasia of the lower eyelids","HP:0007697"]
["obsolete Retinal pigment epithelial atrophy","HP:0007698"]
["Ocular anterior segment dysgenesis","HP:0007700"]
["obsolete Pigmentary retinal deposits","HP:0007702"]
["Abnormality of retinal pigmentation","HP:0007703"]
["Paroxysmal involuntary eye movements","HP:0007704"]
["Corneal degeneration","HP:0007705"]
["Congenital aphakia","HP:0007707"]
["Absent inner eyelashes","HP:0007708"]
["Band-shaped corneal dystrophy","HP:0007709"]
["Peripheral vitreous opacities","HP:0007710"]
["obsolete Choroidal dystrophy","HP:0007712"]
["obsolete Juvenile zonular cataracts","HP:0007713"]
["Weak extraocular muscles","HP:0007715"]
["Uveal melanoma","HP:0007716"]
["Chronic irritative conjunctivitis","HP:0007717"]
["Flat cornea","HP:0007720"]
["Saccular conjunctival dilatations","HP:0007721"]
["Retinal pigment epithelial atrophy","HP:0007722"]
["Opacification of the corneal epithelium","HP:0007727"]
["Congenital miosis","HP:0007728"]
["Iris hypopigmentation","HP:0007730"]
["Chorioretinal dysplasia","HP:0007731"]
["Lacrimal gland hypoplasia","HP:0007732"]
["Laterally curved eyebrow","HP:0007733"]
["Enlarged lacrimal glands","HP:0007734"]
["obsolete Pericentral retinal dystrophy","HP:0007736"]
["Bone spicule pigmentation of the retina","HP:0007737"]
["Uncontrolled eye movements","HP:0007738"]
["obsolete Mildly reduced visual acuity","HP:0007739"]
["Long eyelashes in irregular rows","HP:0007740"]
["obsolete Iridoretinal coloboma","HP:0007744"]
["Monocular horizontal nystagmus","HP:0007747"]
["obsolete Irido-fundal coloboma","HP:0007748"]
["Hypoplasia of the fovea","HP:0007750"]
["Macular dystrophy","HP:0007754"]
["Juvenile epithelial corneal dystrophy","HP:0007755"]
["obsolete Slitlike anterior chamber angles in children","HP:0007756"]
["obsolete Hypoplasia of choroid","HP:0007757"]
["obsolete Congenital visual impairment","HP:0007758"]
["Opacification of the corneal stroma","HP:0007759"]
["Crystalline corneal dystrophy","HP:0007760"]
["Pericentral scotoma","HP:0007761"]
["Retinal telangiectasia","HP:0007763"]
["Deep anterior chamber","HP:0007765"]
["Optic disc hypoplasia","HP:0007766"]
["Central retinal vessel vascular tortuosity","HP:0007768"]
["Peripheral retinal degeneration","HP:0007769"]
["Hypoplasia of the retina","HP:0007770"]
["Impaired smooth pursuit","HP:0007772"]
["Vitreoretinopathy","HP:0007773"]
["Hypoplasia of the ciliary body","HP:0007774"]
["Sparse lower eyelashes","HP:0007776"]
["Chorioretinal scar","HP:0007777"]
["Posterior retinal neovascularization","HP:0007778"]
["Anterior segment of eye aplasia","HP:0007779"]
["Cortical pulverulent cataract","HP:0007780"]
["obsolete Peripheral retinal cone degeneration","HP:0007782"]
["obsolete Butterfly retinal pigment epithelial dystrophy","HP:0007783"]
["obsolete Lacunar retinal depigmentation","HP:0007786"]
["Posterior subcapsular cataract","HP:0007787"]
["Patchy atrophy of the retinal pigment epithelium","HP:0007791"]
["Microsaccadic pursuit","HP:0007792"]
["Granular macular appearance","HP:0007793"]
["Anterior cortical cataract","HP:0007795"]
["Retinal vascular malformation","HP:0007797"]
["obsolete Foveal dystrophy","HP:0007798"]
["Conjunctival whitish salt-like deposits","HP:0007799"]
["Increased axial length of the globe","HP:0007800"]
["obsolete Fishnet retinal pigmentation","HP:0007801"]
["Granular corneal dystrophy","HP:0007802"]
["Monochromacy","HP:0007803"]
["Optic nerve compression","HP:0007807"]
["obsolete Bilateral retinal coloboma","HP:0007808"]
["Punctate corneal dystrophy","HP:0007809"]
["obsolete Progressive bifocal chorioretinal atrophy","HP:0007810"]
["Horizontal pendular nystagmus","HP:0007811"]
["Herpetiform corneal ulceration","HP:0007812"]
["Nongranulomatous uveitis","HP:0007813"]
["Retinal pigment epithelial mottling","HP:0007814"]
["Abnormal distribution of retinal arterioles and venules","HP:0007815"]
["Horizontal supranuclear gaze palsy","HP:0007817"]
["Central heterochromia","HP:0007818"]
["Presenile cataracts","HP:0007819"]
["Lacrimal punctal atresia","HP:0007820"]
["Central retinal exudate","HP:0007822"]
["Total ophthalmoplegia","HP:0007824"]
["obsolete Cataracts develop in second or third decade","HP:0007825"]
["Nodular corneal dystrophy","HP:0007827"]
["obsolete Diffuse retinal cone degeneration","HP:0007829"]
["Adult-onset night blindness","HP:0007830"]
["Nonprogressive restrictive external ophthalmoplegia","HP:0007831"]
["Pigmentation of the sclera","HP:0007832"]
["Anterior chamber synechiae","HP:0007833"]
["Progressive cataract","HP:0007834"]
["S-shaped palpebral fissures","HP:0007835"]
["Mosaic corneal dystrophy","HP:0007836"]
["Progressive ptosis","HP:0007838"]
["Long upper eyelashes","HP:0007840"]
["Amyloid deposition in the vitreous humor","HP:0007841"]
["Attenuation of retinal blood vessels","HP:0007843"]
["Retinal vascular proliferation","HP:0007850"]
["obsolete Temporal displacement of maculae","HP:0007851"]
["obsolete Pericentral pigmentary retinopathy","HP:0007852"]
["Glaucomatous visual field defect","HP:0007854"]
["Punctate opacification of the cornea","HP:0007856"]
["Chorioretinal lacunae","HP:0007858"]
["Congenital horizontal nystagmus","HP:0007859"]
["Retinal calcification","HP:0007862"]
["Retinal infarction","HP:0007866"]
["Restrictive partial external ophthalmoplegia","HP:0007867"]
["obsolete Age-related macular degeneration","HP:0007868"]
["obsolete Peripheral retinopathy","HP:0007869"]
["Choroidal hemangioma","HP:0007872"]
["Abnormally prominent line of Schwalbe","HP:0007873"]
["Almond-shaped palpebral fissure","HP:0007874"]
["Congenital blindness","HP:0007875"]
["obsolete Juvenile cortical cataract","HP:0007876"]
["Allergic conjunctivitis","HP:0007879"]
["Marginal corneal dystrophy","HP:0007880"]
["Central corneal dystrophy","HP:0007881"]
["Slowed horizontal saccades","HP:0007885"]
["Absent extraocular muscles","HP:0007886"]
["Iridescent posterior subcapsular cataract","HP:0007889"]
["Hypoplasia of the lacrimal punctum","HP:0007892"]
["obsolete Progressive retinal degeneration","HP:0007893"]
["Hypopigmentation of the fundus","HP:0007894"]
["Exudative retinopathy","HP:0007898"]
["Retinal nonattachment","HP:0007899"]
["Hypoplastic lacrimal duct","HP:0007900"]
["obsolete Retinal malformation","HP:0007901"]
["Vitreous hemorrhage","HP:0007902"]
["Paravenous chorioretinal atrophy","HP:0007903"]
["Abnormal iris vasculature","HP:0007905"]
["Ocular hypertension","HP:0007906"]
["obsolete Nonprogressive congenital retinal dystrophy","HP:0007910"]
["Congenital bilateral ptosis","HP:0007911"]
["Reticular retinal dystrophy","HP:0007913"]
["Polymorphous posterior corneal dystrophy","HP:0007915"]
["obsolete Small anterior lens surface opacities","HP:0007916"]
["Tractional retinal detachment","HP:0007917"]
["obsolete Congenital chorioretinal dystrophy","HP:0007920"]
["Hypermyelinated retinal nerve fibers","HP:0007922"]
["obsolete Foveal hyperplasia","HP:0007923"]
["Slow decrease in visual acuity","HP:0007924"]
["Lacrimal duct aplasia","HP:0007925"]
["Abnormal flash visual evoked potentials","HP:0007928"]
["Peripheral retinal detachment","HP:0007929"]
["obsolete Prominent epicanthal folds","HP:0007930"]
["Bilateral congenital mydriasis","HP:0007932"]
["Broad lateral eyebrow","HP:0007933"]
["Juvenile posterior subcapsular lenticular opacities","HP:0007935"]
["Restrictive external ophthalmoplegia","HP:0007936"]
["Reticular pigmentary degeneration","HP:0007937"]
["Blue cone monochromacy","HP:0007939"]
["Limited extraocular movements","HP:0007941"]
["Internal ophthalmoplegia","HP:0007942"]
["Congenital stapes ankylosis","HP:0007943"]
["Intermittent microsaccadic pursuits","HP:0007944"]
["obsolete Choroidal degeneration","HP:0007945"]
["Unilateral narrow palpebral fissure","HP:0007946"]
["Pericentral retinitis pigmentosa","HP:0007947"]
["Dense posterior cortical cataract","HP:0007948"]
["obsolete Progressive macular scarring","HP:0007949"]
["Peripapillary chorioretinal atrophy","HP:0007950"]
["obsolete Bilateral choroid coloboma","HP:0007956"]
["Corneal opacity","HP:0007957"]
["Optic atrophy from cranial nerve compression","HP:0007958"]
["obsolete Rarefaction of retinal pigmentation","HP:0007961"]
["Speckled corneal dystrophy","HP:0007962"]
["Pattern dystrophy of the retina","HP:0007963"]
["Degenerative vitreoretinopathy","HP:0007964"]
["Undetectable visual evoked potentials","HP:0007965"]
["Remnants of the hyaloid vascular system","HP:0007968"]
["Congenital ptosis","HP:0007970"]
["Lamellar cataract","HP:0007971"]
["Retinal dysplasia","HP:0007973"]
["Hypometric horizontal saccades","HP:0007975"]
["Cerulean cataract","HP:0007976"]
["Gaze-evoked horizontal nystagmus","HP:0007979"]
["Absent retinal pigment epithelium","HP:0007980"]
["obsolete Concentric narrowing of visual field","HP:0007981"]
["obsolete Central tapetoretinal dystrophy","HP:0007982"]
["Electronegative electroretinogram","HP:0007984"]
["Retinal arteriolar occlusion","HP:0007985"]
["Increased retinal vascularity","HP:0007986"]
["Progressive visual field defects","HP:0007987"]
["Macular hypopigmentation","HP:0007988"]
["Intraretinal exudate","HP:0007989"]
["Hypoplastic iris stroma","HP:0007990"]
["Lattice retinal degeneration","HP:0007992"]
["Malformed lacrimal duct","HP:0007993"]
["Peripheral visual field loss","HP:0007994"]
["Decreased corneal reflex","HP:0008000"]
["Foveal hyperpigmentation","HP:0008001"]
["Abnormality of macular pigmentation","HP:0008002"]
["Jerky ocular pursuit movements","HP:0008003"]
["Congenital corneal dystrophy","HP:0008005"]
["Primary congenital glaucoma","HP:0008007"]
["obsolete Progressive central visual loss","HP:0008008"]
["Three rows of eyelashes","HP:0008009"]
["Peripheral opacification of the cornea","HP:0008011"]
["obsolete Congenital myopia","HP:0008012"]
["Central fundal arteriolar microaneurysms","HP:0008014"]
["obsolete Depigmented lesions of the retinal pigment epithelium","HP:0008017"]
["Superior lens subluxation","HP:0008019"]
["Cone dystrophy","HP:0008020"]
["obsolete Congenital nuclear cataract","HP:0008024"]
["Horizontal opticokinetic nystagmus","HP:0008026"]
["Cystoid macular degeneration","HP:0008028"]
["Retinal arteritis","HP:0008030"]
["Posterior Y-sutural cataract","HP:0008031"]
["obsolete Congenital exotropia","HP:0008033"]
["Abnormal iris pigmentation","HP:0008034"]
["Retinitis pigmentosa inversa","HP:0008035"]
["obsolete Rod-cone dystrophy","HP:0008036"]
["Absent anterior chamber of the eye","HP:0008037"]
["Aplastic/hypoplastic lacrimal glands","HP:0008038"]
["Subepithelial corneal opacities","HP:0008039"]
["Late onset congenital glaucoma","HP:0008041"]
["Retinal arteriolar constriction","HP:0008043"]
["Enlarged flash visual evoked potentials","HP:0008045"]
["Abnormal retinal vascular morphology","HP:0008046"]
["Abnormality of the vasculature of the eye","HP:0008047"]
["Abnormality of the line of Schwalbe","HP:0008048"]
["Abnormality of the extraocular muscles","HP:0008049"]
["Abnormality of the palpebral fissures","HP:0008050"]
["obsolete Abnormality of the retinal pigment epithelium","HP:0008051"]
["Retinal fold","HP:0008052"]
["Aplasia/Hypoplasia of the iris","HP:0008053"]
["Abnormal morphology of the conjunctival vasculature","HP:0008054"]
["Aplasia/Hypoplasia affecting the uvea","HP:0008055"]
["Aplasia/Hypoplasia affecting the eye","HP:0008056"]
["Aplasia/Hypoplasia affecting the fundus","HP:0008057"]
["Aplasia/Hypoplasia of the optic nerve","HP:0008058"]
["Aplasia/Hypoplasia of the macula","HP:0008059"]
["Aplasia/Hypoplasia of the fovea","HP:0008060"]
["Aplasia/Hypoplasia of the retina","HP:0008061"]
["Aplasia/Hypoplasia affecting the anterior segment of the eye","HP:0008062"]
["Aplasia/Hypoplasia of the lens","HP:0008063"]
["Ichthyosis","HP:0008064"]
["Aplasia/Hypoplasia of the skin","HP:0008065"]
["Abnormal blistering of the skin","HP:0008066"]
["Abnormally lax or hyperextensible skin","HP:0008067"]
["Neoplasm of the skin","HP:0008069"]
["Sparse hair","HP:0008070"]
["Maternal hypertension","HP:0008071"]
["Maternal virilization in pregnancy","HP:0008072"]
["Low maternal serum estriol","HP:0008073"]
["Metatarsal periosteal thickening","HP:0008074"]
["Progressive pes cavus","HP:0008075"]
["Osteoporotic tarsals","HP:0008076"]
["Thin metatarsal cortices","HP:0008078"]
["Absent fifth metatarsal","HP:0008079"]
["Hallux varus","HP:0008080"]
["Pes valgus","HP:0008081"]
["Medial deviation of the foot","HP:0008082"]
["2nd-5th toe middle phalangeal hypoplasia","HP:0008083"]
["Nonossified fifth metatarsal","HP:0008087"]
["Abnormality of the fifth metatarsal bone","HP:0008089"]
["Ankylosis of feet small joints","HP:0008090"]
["Short 4th toe","HP:0008093"]
["Widely spaced toes","HP:0008094"]
["Osteolysis of talus","HP:0008095"]
["Medially deviated second toe","HP:0008096"]
["Partial fusion of tarsals","HP:0008097"]
["Expanded metatarsals with widened medullary cavities","HP:0008102"]
["Delayed tarsal ossification","HP:0008103"]
["Plantar crease between first and second toes","HP:0008107"]
["Advanced tarsal ossification","HP:0008108"]
["Equinovarus deformity","HP:0008110"]
["Broad distal hallux","HP:0008111"]
["Plantar flexion contractures","HP:0008112"]
["Multiple plantar creases","HP:0008113"]
["Metatarsal diaphyseal endosteal sclerosis","HP:0008114"]
["Clinodactyly of the 3rd toe","HP:0008115"]
["Flexion limitation of toes","HP:0008116"]
["Shortening of the talar neck","HP:0008117"]
["Deformed tarsal bones","HP:0008119"]
["Calcaneonavicular fusion","HP:0008122"]
["Talipes calcaneovarus","HP:0008124"]
["Second metatarsal posteriorly placed","HP:0008125"]
["Bipartite calcaneus","HP:0008127"]
["Tarsal stippling","HP:0008131"]
["Medial rotation of the medial malleolus","HP:0008132"]
["Distal tapering of metatarsals","HP:0008133"]
["Irregular tarsal ossification","HP:0008134"]
["Equinus calcaneus","HP:0008138"]
["Dislocation of toes","HP:0008141"]
["Delayed calcaneal ossification","HP:0008142"]
["Flattening of the talar dome","HP:0008144"]
["Impaired epinephrine-induced platelet aggregation","HP:0008148"]
["Elevated serum transaminases during infections","HP:0008150"]
["Prolonged prothrombin time","HP:0008151"]
["Periodic hypokalemic paresis","HP:0008153"]
["Mucopolysacchariduria","HP:0008155"]
["Hyperapobetalipoproteinemia","HP:0008158"]
["3-hydroxydicarboxylic aciduria","HP:0008160"]
["Absent leukocyte alkaline phosphatase","HP:0008161"]
["Asymptomatic hyperammonemia","HP:0008162"]
["Decreased circulating cortisol level","HP:0008163"]
["Decreased helper T cell proportion","HP:0008165"]
["Decreased beta-galactosidase activity","HP:0008166"]
["Very long chain fatty acid accumulation","HP:0008167"]
["Reduced factor VII activity","HP:0008169"]
["Neonatal unconjugated hyperbilirubinemia","HP:0008176"]
["Abnormal cartilage matrix","HP:0008178"]
["Decreased Arden ratio of electrooculogram","HP:0008179"]
["Mildly elevated creatine kinase","HP:0008180"]
["Abetalipoproteinemia","HP:0008181"]
["Adrenocortical hypoplasia","HP:0008182"]
["Precocious puberty in males","HP:0008185"]
["Adrenocortical cytomegaly","HP:0008186"]
["Absence of secondary sex characteristics","HP:0008187"]
["Thyroid dysgenesis","HP:0008188"]
["Insulin insensitivity","HP:0008189"]
["Thyroid agenesis","HP:0008191"]
["Primary gonadal insufficiency","HP:0008193"]
["Multiple pancreatic beta-cell adenomas","HP:0008194"]
["Absence of pubertal development","HP:0008197"]
["Congenital hypoparathyroidism","HP:0008198"]
["Primary hyperparathyroidism","HP:0008200"]
["Reduced circulating prolactin concentration","HP:0008202"]
["Precocious puberty with Sertoli cell tumor","HP:0008204"]
["Insulin-dependent but ketosis-resistant diabetes","HP:0008205"]
["Primary adrenal insufficiency","HP:0008207"]
["Parathyroid hyperplasia","HP:0008208"]
["Premature ovarian insufficiency","HP:0008209"]
["Parathyroid agenesis","HP:0008211"]
["Gonadotropin deficiency","HP:0008213"]
["Decreased serum estradiol","HP:0008214"]
["Adrenal gland dysgenesis","HP:0008216"]
["Adrenal hyperplasia","HP:0008221"]
["Female infertility","HP:0008222"]
["Compensated hypothyroidism","HP:0008223"]
["Thyroid follicular hyperplasia","HP:0008225"]
["Androgen insufficiency","HP:0008226"]
["Pituitary resistance to thyroid hormone","HP:0008227"]
["Thyroid lymphangiectasia","HP:0008229"]
["obsolete Decreased testosterone in males","HP:0008230"]
["Macronodular adrenal hyperplasia","HP:0008231"]
["Elevated circulating follicle stimulating hormone level","HP:0008232"]
["Decreased circulating progesterone","HP:0008233"]
["Isosexual precocious puberty","HP:0008236"]
["Hypothalamic hypothyroidism","HP:0008237"]
["Adrenal medullary hypoplasia","HP:0008239"]
["Secondary growth hormone deficiency","HP:0008240"]
["Pseudohypoaldosteronism","HP:0008242"]
["Congenital adrenal hypoplasia","HP:0008244"]
["Pituitary hypothyroidism","HP:0008245"]
["Euthyroid hyperthyroxinemia","HP:0008247"]
["Thyroid hyperplasia","HP:0008249"]
["Infantile hypercalcemia","HP:0008250"]
["Congenital goiter","HP:0008251"]
["Transient neonatal diabetes mellitus","HP:0008255"]
["Adrenocortical adenoma","HP:0008256"]
["Congenital adrenal hyperplasia","HP:0008258"]
["Adrenocorticotropin receptor defect","HP:0008259"]
["Pancreatic islet cell adenoma","HP:0008261"]
["Thyroid defect in oxidation and organification of iodide","HP:0008263"]
["Neutrophil inclusion bodies","HP:0008264"]
["Mitochondrial lysine transport defect","HP:0008265"]
["Increased red cell hemolysis by shear stress","HP:0008269"]
["Abnormal cartilage collagen","HP:0008271"]
["Renal tubular lysine transport defect","HP:0008272"]
["Transient aminoaciduria","HP:0008273"]
["Abnormal light-adapted electroretinogram","HP:0008275"]
["Abnormal blood zinc concentration","HP:0008277"]
["Cerebellar cortical atrophy","HP:0008278"]
["Transient hyperlipidemia","HP:0008279"]
["Acute hyperammonemia","HP:0008281"]
["Unconjugated hyperbilirubinemia","HP:0008282"]
["Fasting hyperinsulinemia","HP:0008283"]
["Transient hypophosphatemia","HP:0008285"]
["Nonketotic hyperglycinemia","HP:0008288"]
["Partial complement factor H deficiency","HP:0008290"]
["Pituitary corticotropic cell adenoma","HP:0008291"]
["Long-chain dicarboxylic aciduria","HP:0008293"]
["Transient hyperphenylalaninemia","HP:0008297"]
["Dermatan sulfate excretion in urine","HP:0008301"]
["Olivary degeneration","HP:0008303"]
["Exercise-induced myoglobinuria","HP:0008305"]
["Abnormal iron deposition in mitochondria","HP:0008306"]
["Medium chain dicarboxylic aciduria","HP:0008309"]
["Spinal cord posterior columns myelin loss","HP:0008311"]
["Decreased activity of mitochondrial complex II","HP:0008314"]
["Decreased plasma free carnitine","HP:0008315"]
["Abnormal mitochondria in muscle tissue","HP:0008316"]
["Elevated leukocyte alkaline phosphatase","HP:0008318"]
["Impaired collagen-induced platelet aggregation","HP:0008320"]
["Reduced factor X activity","HP:0008321"]
["Abnormal mitochondrial morphology","HP:0008322"]
["Abnormal light- and dark-adapted electroretinogram","HP:0008323"]
["Reduced circulating vitamin B6 level","HP:0008326"]
["Microscopic nephrocalcinosis","HP:0008327"]
["Reduced von Willebrand factor activity","HP:0008330"]
["Elevated creatine kinase after exercise","HP:0008331"]
["obsolete Renal aminoaciduria","HP:0008335"]
["Complex organic aciduria","HP:0008336"]
["Partial functional complement factor D deficiency","HP:0008338"]
["Diaminoaciduria","HP:0008339"]
["Distal renal tubular acidosis","HP:0008341"]
["Elevated plasma branched chain amino acids","HP:0008344"]
["Hypoplasia of the iris dilator muscle","HP:0008345"]
["Increased red cell sickling tendency","HP:0008346"]
["Decreased activity of mitochondrial complex IV","HP:0008347"]
["Decreased circulating IgG2 level","HP:0008348"]
["Impaired platelet adhesion","HP:0008352"]
["Neutral hyperaminoaciduria","HP:0008353"]
["Factor X activation deficiency","HP:0008354"]
["obsolete Combined hyperlipidemia","HP:0008356"]
["Reduced factor XIII activity","HP:0008357"]
["Hyperprolinemia","HP:0008358"]
["Neonatal hypoproteinemia","HP:0008360"]
["Corticospinal tract pallor","HP:0008361"]
["Aplasia/Hypoplasia of the hallux","HP:0008362"]
["Aplasia/Hypoplasia of the tarsal bones","HP:0008363"]
["Abnormality of the calcaneus","HP:0008364"]
["Abnormal talus morphology","HP:0008365"]
["Contractures involving the joints of the feet","HP:0008366"]
["Tarsal synostosis","HP:0008368"]
["Abnormal tarsal ossification","HP:0008369"]
["Abnormal metatarsal ossification","HP:0008371"]
["Abnormality of vitamin A metabolism","HP:0008372"]
["Puberty and gonadal disorders","HP:0008373"]
["Nasal, dysarthic speech","HP:0008376"]
["Slow-growing nails","HP:0008383"]
["Aplasia/Hypoplasia of the nails","HP:0008386"]
["Abnormal toenail morphology","HP:0008388"]
["Recurrent loss of toenails and fingernails","HP:0008390"]
["Dystrophic fingernails","HP:0008391"]
["Subungual hyperkeratosis","HP:0008392"]
["Congenital curved nail of fourth toe","HP:0008393"]
["Congenital onychodystrophy","HP:0008394"]
["Chronic monilial nail infection","HP:0008396"]
["Hypoplastic fifth fingernail","HP:0008398"]
["Circumungual hyperkeratosis","HP:0008399"]
["Onycholysis of distal fingernails","HP:0008400"]
["Onychogryposis of toenails","HP:0008401"]
["Ridged fingernail","HP:0008402"]
["Nail dystrophy","HP:0008404"]
["Hyperconvex thumb nails","HP:0008407"]
["Subungual hyperkeratotic fragments","HP:0008410"]
["Lumbar kyphosis in infancy","HP:0008414"]
["Six lumbar vertebrae","HP:0008416"]
["Vertebral hypoplasia","HP:0008417"]
["Squared-off platyspondyly","HP:0008418"]
["Intervertebral disc degeneration","HP:0008419"]
["Punctate vertebral calcifications","HP:0008420"]
["Tall lumbar vertebral bodies","HP:0008421"]
["Vertebral wedging","HP:0008422"]
["Spinal dysplasia","HP:0008423"]
["Hypoplastic 5th lumbar vertebrae","HP:0008424"]
["Cuboid-shaped thoracolumbar vertebral bodies","HP:0008425"]
["Vertebral clefting","HP:0008428"]
["Anterior beaking of lumbar vertebrae","HP:0008430"]
["Anterior wedging of L1","HP:0008432"]
["Reversed usual vertebral column curves","HP:0008433"]
["Hypoplastic cervical vertebrae","HP:0008434"]
["Absent in utero ossification of vertebral bodies","HP:0008435"]
["Absent/hypoplastic coccyx","HP:0008436"]
["Bifid thoracic vertebrae","HP:0008437"]
["Vertebral arch anomaly","HP:0008438"]
["Lumbar hemivertebrae","HP:0008439"]
["C1-C2 vertebral abnormality","HP:0008440"]
["Herniation of intervertebral nuclei","HP:0008441"]
["Vertebral hyperostosis","HP:0008442"]
["Spinal deformities","HP:0008443"]
["Posterior wedging of vertebral bodies","HP:0008444"]
["Cervical spinal canal stenosis","HP:0008445"]
["Hypoplastic coccygeal vertebrae","HP:0008447"]
["Progressive cervical vertebral spine fusion","HP:0008449"]
["Narrow vertebral interpedicular distance","HP:0008450"]
["Posterior vertebral hypoplasia","HP:0008451"]
["Wafer-thin platyspondyly","HP:0008452"]
["Congenital kyphoscoliosis","HP:0008453"]
["Lumbar kyphosis","HP:0008454"]
["Dysplastic sacrum","HP:0008455"]
["C2-C3 subluxation","HP:0008456"]
["Caudal interpedicular narrowing","HP:0008457"]
["Progressive congenital scoliosis","HP:0008458"]
["Cervical vertebral agenesis","HP:0008459"]
["Hypoplastic spinal processes","HP:0008460"]
["Cervical vertebral facet hypoplasia","HP:0008461"]
["Cervical instability","HP:0008462"]
["Central vertebral hypoplasia","HP:0008463"]
["Absent spinous processes of lower thoracic and lumbar vertebrae","HP:0008464"]
["Absent vertebra","HP:0008465"]
["Thoracic hemivertebrae","HP:0008467"]
["Abnormal sacral segmentation","HP:0008468"]
["Cervical vertebral dysplasia","HP:0008469"]
["Lower thoracic interpediculate narrowness","HP:0008470"]
["Prominent protruding coccyx","HP:0008472"]
["Narrow anterio-posterior vertebral body diameter","HP:0008473"]
["Hypoplastic sacral vertebrae","HP:0008475"]
["Irregular sclerotic endplates","HP:0008476"]
["Poorly ossified cervical vertebrae","HP:0008477"]
["Scheuermann-like vertebral changes","HP:0008478"]
["Hypoplastic vertebral bodies","HP:0008479"]
["Cervical spondylosis","HP:0008480"]
["Asymmetry of spinal facet joints","HP:0008482"]
["Cervical vertebral bodies with decreased anteroposterior diameter","HP:0008483"]
["Thoracolumbar interpediculate narrowness","HP:0008484"]
["Lumbar interpedicular narrowing","HP:0008486"]
["Anterior rounding of vertebral bodies","HP:0008488"]
["Spondylolisthesis at L5-S1","HP:0008489"]
["Sacral segmentation defect","HP:0008490"]
["Premature anterior fontanel closure","HP:0008491"]
["Inferior lens subluxation","HP:0008494"]
["Multiple rows of eyelashes","HP:0008496"]
["Congenital craniofacial dysostosis","HP:0008497"]
["No permanent dentition","HP:0008498"]
["High hypermetropia","HP:0008499"]
["Median cleft lip and palate","HP:0008501"]
["Moderate sensorineural hearing impairment","HP:0008504"]
["Static ophthalmoparesis","HP:0008507"]
["Aged leonine appearance","HP:0008509"]
["Central posterior corneal opacity","HP:0008511"]
["Bilateral conductive hearing impairment","HP:0008513"]
["Aplasia/Hypoplasia of the vertebrae","HP:0008515"]
["Abnormality of the vertebral spinous processes","HP:0008516"]
["Aplasia/Hypoplasia of the sacrum","HP:0008517"]
["Aplasia/Hypoplasia involving the vertebral column","HP:0008518"]
["Abnormal coccyx morphology","HP:0008519"]
["Posterior helix pit","HP:0008523"]
["Congenital sensorineural hearing impairment","HP:0008527"]
["Long hairs growing from helix of pinna","HP:0008528"]
["Absence of acoustic reflex","HP:0008529"]
["Cleft at the superior portion of the pinna","HP:0008537"]
["Superiorly displaced ears","HP:0008541"]
["Low-frequency hearing loss","HP:0008542"]
["Abnormally folded helix","HP:0008544"]
["Microtia","HP:0008551"]
["Cochlear malformation","HP:0008554"]
["Absent vestibular function","HP:0008555"]
["Hypoplastic superior helix","HP:0008559"]
["Vestibular areflexia","HP:0008568"]
["Microtia, second degree","HP:0008569"]
["External ear malformation","HP:0008572"]
["Low-frequency sensorineural hearing impairment","HP:0008573"]
["Underfolded helix","HP:0008577"]
["Underfolded superior helices","HP:0008583"]
["Hypoplasia of the cochlea","HP:0008586"]
["Mild neurosensory hearing impairment","HP:0008587"]
["Slit-like opening of the exterior auditory meatus","HP:0008588"]
["Hypoplastic helices","HP:0008589"]
["Congenital conductive hearing impairment","HP:0008591"]
["Prominent antitragus","HP:0008593"]
["Postlingual sensorineural hearing impairment","HP:0008596"]
["Mild conductive hearing impairment","HP:0008598"]
["Unilateral external ear deformity","HP:0008605"]
["Supraauricular pit","HP:0008606"]
["Progressive conductive hearing impairment","HP:0008607"]
["Hypertrophic auricular cartilage","HP:0008608"]
["Morphological abnormality of the middle ear","HP:0008609"]
["Infantile sensorineural hearing impairment","HP:0008610"]
["Adult onset sensorineural hearing impairment","HP:0008615"]
["Bilateral sensorineural hearing impairment","HP:0008619"]
["Severe sensorineural hearing impairment","HP:0008625"]
["Abnormality of the stapes","HP:0008628"]
["Pulsatile tinnitus","HP:0008629"]
["Ureteral dysgenesis","HP:0008631"]
["Agonadism","HP:0008633"]
["Hypertrophy of the urinary bladder","HP:0008635"]
["Lobular glomerulopathy","HP:0008636"]
["Gonadal hypoplasia","HP:0008639"]
["Congenital macroorchidism","HP:0008640"]
["Nephroblastomatosis","HP:0008643"]
["Pubertal developmental failure in females","HP:0008647"]
["Anteriorly displaced urethral meatus","HP:0008648"]
["Uric acid urolithiasis independent of gout","HP:0008651"]
["Autonomic erectile dysfunction","HP:0008652"]
["Crescentic glomerulonephritis","HP:0008653"]
["Aplasia/Hypoplasia of the fallopian tube","HP:0008655"]
["Incomplete male pseudohermaphroditism","HP:0008656"]
["Multiple small medullary renal cysts","HP:0008659"]
["Renotubular dysgenesis","HP:0008660"]
["Urethral stenosis","HP:0008661"]
["Renal sarcoma","HP:0008663"]
["Urethral sphincter sclerosis","HP:0008664"]
["Clitoral hypertrophy","HP:0008665"]
["Impaired histidine renal tubular absorption","HP:0008666"]
["Gonadal dysgenesis, male","HP:0008668"]
["Abnormal spermatogenesis","HP:0008669"]
["Partial vaginal septum","HP:0008670"]
["Calcium oxalate nephrolithiasis","HP:0008672"]
["Enlarged polycystic ovaries","HP:0008675"]
["Congenital megaureter","HP:0008676"]
["Congenital nephrotic syndrome","HP:0008677"]
["Renal hypoplasia/aplasia","HP:0008678"]
["Renal tubular epithelial necrosis","HP:0008682"]
["Enlarged labia minora","HP:0008683"]
["Aplasia/hypoplasia of the uterus","HP:0008684"]
["Hypoplasia of the prostate","HP:0008687"]
["Bilateral cryptorchidism","HP:0008689"]
["Solitary bladder diverticulum","HP:0008691"]
["obsolete Hypertrophic labia minora","HP:0008694"]
["Transient nephrotic syndrome","HP:0008695"]
["Renal hamartoma","HP:0008696"]
["Hypoplasia of the fallopian tube","HP:0008697"]
["Absent internal genitalia","HP:0008702"]
["Gonadal calcification","HP:0008703"]
["Ureteral triplication","HP:0008705"]
["Distal urethral duplication","HP:0008706"]
["Absent scrotum","HP:0008707"]
["Partial development of the penile shaft","HP:0008708"]
["Benign prostatic hyperplasia","HP:0008711"]
["Ureterovesical stenosis","HP:0008714"]
["Testicular dysgenesis","HP:0008715"]
["Urethrovaginal fistula","HP:0008716"]
["Unilateral renal atrophy","HP:0008717"]
["Unilateral renal dysplasia","HP:0008718"]
["Primary testicular failure","HP:0008720"]
["Urethral diverticulum","HP:0008722"]
["Gonadal dysgenesis with female appearance, male","HP:0008723"]
["Hypoplasia of the ovary","HP:0008724"]
["Hypoplasia of the vagina","HP:0008726"]
["Absence of labia majora","HP:0008729"]
["Female external genitalia in individual with 46,XY karyotype","HP:0008730"]
["Renal hypophosphatemia","HP:0008732"]
["Dysplastic testes","HP:0008733"]
["Decreased testicular size","HP:0008734"]
["Hypoplasia of penis","HP:0008736"]
["Partially duplicated kidney","HP:0008738"]
["Labial pseudohypertrophy","HP:0008739"]
["Longitudinal vaginal septum","HP:0008740"]
["Prominent prostate median bar","HP:0008742"]
["Coronal hypospadias","HP:0008743"]
["Abnormal aryepiglottic fold morphology","HP:0008744"]
["Cartilaginous ossification of larynx","HP:0008747"]
["Laryngeal hypoplasia","HP:0008749"]
["Laryngeal atresia","HP:0008750"]
["Laryngeal cleft","HP:0008751"]
["Laryngeal cartilage malformation","HP:0008752"]
["Aplasia of the epiglottis","HP:0008753"]
["Laryngeal calcification","HP:0008754"]
["Laryngotracheomalacia","HP:0008755"]
["Bowing of the vocal cords","HP:0008756"]
["Unilateral vocal cord paralysis","HP:0008757"]
["Violent behavior","HP:0008760"]
["Repetitive compulsive behavior","HP:0008762"]
["No social interaction","HP:0008763"]
["Auditory hallucinations","HP:0008765"]
["Self-mutilation of tongue and lips due to involuntary movements","HP:0008767"]
["Inappropriate sexual behavior","HP:0008768"]
["Obsessive-compulsive trait","HP:0008770"]
["Aplasia/Hypoplasia of the ear","HP:0008771"]
["Aplasia/Hypoplasia of the external ear","HP:0008772"]
["Aplasia/Hypoplasia of the middle ear","HP:0008773"]
["Aplasia/Hypoplasia of the inner ear","HP:0008774"]
["Abnormal prostate morphology","HP:0008775"]
["Abnormal renal artery morphology","HP:0008776"]
["Abnormal vocal cord morphology","HP:0008777"]
["Congenital bilateral hip dislocation","HP:0008780"]
["Wide proximal femoral metaphysis","HP:0008783"]
["Wide capital femoral epiphyses","HP:0008784"]
["Delayed ossification of pubic rami","HP:0008785"]
["Iliac crest serration","HP:0008786"]
["Delayed pubic bone ossification","HP:0008788"]
["Cone-shaped capital femoral epiphysis","HP:0008789"]
["Dysplastic iliac wing","HP:0008794"]
["Externally rotated hips","HP:0008796"]
["Early ossification of capital femoral epiphyses","HP:0008797"]
["Widened greater sciatic notch","HP:0008798"]
["Limited hip movement","HP:0008800"]
["Hypoplasia of the lesser trochanter","HP:0008801"]
["Hypoplasia of the femoral head","HP:0008802"]
["obsolete Narrow sacroiliac notch","HP:0008803"]
["Broad femoral head","HP:0008804"]
["Acetabular dysplasia","HP:0008807"]
["High iliac wing","HP:0008808"]
["Flattened femoral head","HP:0008812"]
["Aplastic pubic bones","HP:0008817"]
["Large iliac wing","HP:0008818"]
["Narrow femoral neck","HP:0008819"]
["Absent ossification of capital femoral epiphysis","HP:0008820"]
["Hypoplastic inferior ilia","HP:0008821"]
["Hypoplastic ischiopubic rami","HP:0008822"]
["Hypoplastic inferior pubic rami","HP:0008823"]
["Hypoplastic iliac body","HP:0008824"]
["Dislocation of the femoral head","HP:0008826"]
["Delayed proximal femoral epiphyseal ossification","HP:0008828"]
["Delayed femoral head ossification","HP:0008829"]
["Hypoplastic pubic rami","HP:0008830"]
["Irregular acetabular roof","HP:0008833"]
["Multicentric femoral head ossification","HP:0008835"]
["Stippled calcification proximal humeral epiphyses","HP:0008838"]
["Hypoplastic pelvis","HP:0008839"]
["Hip osteoarthritis","HP:0008843"]
["Mesomelic short stature","HP:0008845"]
["Severe intrauterine growth retardation","HP:0008846"]
["Moderately short stature","HP:0008848"]
["Severe postnatal growth retardation","HP:0008850"]
["Moderate postnatal growth retardation","HP:0008855"]
["Neonatal short-trunk short stature","HP:0008857"]
["Failure to thrive secondary to recurrent infections","HP:0008866"]
["Feeding difficulties in infancy","HP:0008872"]
["Disproportionate short-limb short stature","HP:0008873"]
["Mild intrauterine growth retardation","HP:0008883"]
["Adipose tissue loss","HP:0008887"]
["Severe short-limb dwarfism","HP:0008890"]
["Postnatal growth retardation","HP:0008897"]
["Rhizomelia","HP:0008905"]
["Lethal short-limbed short stature","HP:0008909"]
["Childhood-onset truncal obesity","HP:0008915"]
["Neonatal short-limb short stature","HP:0008921"]
["Childhood-onset short-trunk short stature","HP:0008922"]
["Asymmetric short stature","HP:0008929"]
["Generalized neonatal hypotonia","HP:0008935"]
["Muscular hypotonia of the trunk","HP:0008936"]
["Generalized lymphadenopathy","HP:0008940"]
["Acute rhabdomyolysis","HP:0008942"]
["Distal lower limb amyotrophy","HP:0008944"]
["Loss of ability to walk in early childhood","HP:0008945"]
["Pelvic girdle amyotrophy","HP:0008946"]
["Infantile muscular hypotonia","HP:0008947"]
["Proximal upper limb amyotrophy","HP:0008948"]
["Shoulder muscle hypoplasia","HP:0008952"]
["Pectoralis major hypoplasia","HP:0008953"]
["Intrinsic hand muscle atrophy","HP:0008954"]
["Progressive distal muscular atrophy","HP:0008955"]
["Proximal lower limb amyotrophy","HP:0008956"]
["Distal upper limb muscle weakness","HP:0008959"]
["Calf muscle hypoplasia","HP:0008962"]
["Tibialis muscle weakness","HP:0008963"]
["Nonprogressive muscular atrophy","HP:0008964"]
["Exercise-induced muscle stiffness","HP:0008967"]
["Muscle hypertrophy of the lower extremities","HP:0008968"]
["Leg muscle stiffness","HP:0008969"]
["Scapulohumeral muscular dystrophy","HP:0008970"]
["Decreased activity of mitochondrial respiratory chain","HP:0008972"]
["Necrotizing myopathy","HP:0008978"]
["Calf muscle hypertrophy","HP:0008981"]
["Neck muscle hypoplasia","HP:0008984"]
["Increased intramuscular fat","HP:0008985"]
["Agenesis of the diaphragm","HP:0008986"]
["Pelvic girdle muscle atrophy","HP:0008988"]
["Exercise-induced leg cramps","HP:0008991"]
["Increased intraabdominal fat","HP:0008993"]
["Proximal muscle weakness in lower limbs","HP:0008994"]
["Proximal muscle weakness in upper limbs","HP:0008997"]
["Pectoralis hypoplasia","HP:0008998"]
["Loss of truncal subcutaneous adipose tissue","HP:0009002"]
["Increased subcutaneous truncal adipose tissue","HP:0009003"]
["Hypoplasia of the musculature","HP:0009004"]
["Weakness of the intrinsic hand muscles","HP:0009005"]
["Biceps hypoplasia","HP:0009007"]
["Hypoplasia of serratus anterior muscle","HP:0009011"]
["Congenital absence of gluteal muscles","HP:0009013"]
["Upper limb muscle hypoplasia","HP:0009016"]
["Loss of gluteal subcutaneous adipose tissue","HP:0009017"]
["Progressive loss of facial adipose tissue","HP:0009019"]
["Exercise-induced muscle fatigue","HP:0009020"]
["Abdominal wall muscle weakness","HP:0009023"]
["Increased connective tissue","HP:0009025"]
["Hypoplasia of latissimus dorsi muscle","HP:0009026"]
["Foot dorsiflexor weakness","HP:0009027"]
["Generalized weakness of limb muscles","HP:0009028"]
["Amyotrophy of ankle musculature","HP:0009031"]
["Segmental spinal muscular atrophy","HP:0009037"]
["Marked muscular hypertrophy","HP:0009042"]
["obsolete Hypoplasia of deltoid muscle","HP:0009044"]
["Exercise-induced rhabdomyolysis","HP:0009045"]
["Difficulty running","HP:0009046"]
["Peroneal muscle atrophy","HP:0009049"]
["Quadriceps muscle atrophy","HP:0009050"]
["Increased muscle glycogen content","HP:0009051"]
["Distal lower limb muscle weakness","HP:0009053"]
["Scapuloperoneal myopathy","HP:0009054"]
["Generalized limb muscle atrophy","HP:0009055"]
["Loss of subcutaneous adipose tissue from upper limbs","HP:0009056"]
["Increased muscle lipid content","HP:0009058"]
["Congenital generalized lipodystrophy","HP:0009059"]
["Scapular muscle atrophy","HP:0009060"]
["Infantile axial hypotonia","HP:0009062"]
["Progressive distal muscle weakness","HP:0009063"]
["Generalized lipodystrophy","HP:0009064"]
["Progressive spinal muscular atrophy","HP:0009067"]
["Lethal infantile mitochondrial myopathy","HP:0009069"]
["Inflammatory myopathy","HP:0009071"]
["Decreased Achilles reflex","HP:0009072"]
["Progressive proximal muscle weakness","HP:0009073"]
["Weakness of long finger extensor muscles","HP:0009077"]
["Midline notch of upper alveolar ridge","HP:0009084"]
["Alveolar ridge overgrowth","HP:0009085"]
["Posteriorly placed tongue","HP:0009087"]
["Speech articulation difficulties","HP:0009088"]
["obsolete Facial diplegic appearance","HP:0009090"]
["Progressive alveolar ridge hypertropy","HP:0009092"]
["Cleft lower alveolar ridge","HP:0009094"]
["Chronic oral candidiasis","HP:0009098"]
["Median cleft palate","HP:0009099"]
["Thick anterior alveolar ridges","HP:0009100"]
["Submucous cleft lip","HP:0009101"]
["Anterior open-bite malocclusion","HP:0009102"]
["Aplasia/Hypoplasia involving the pelvis","HP:0009103"]
["Aplasia/Hypoplasia of the pubic bone","HP:0009104"]
["Abnormal ossification of the pubic bone","HP:0009105"]
["Abnormal pelvis bone ossification","HP:0009106"]
["Abnormal ossification involving the femoral head and neck","HP:0009107"]
["Aplasia/Hypoplasia involving the femoral head and neck","HP:0009108"]
["Denervation of the diaphragm","HP:0009109"]
["Diaphragmatic eventration","HP:0009110"]
["Aplasia of the left hemidiaphragm","HP:0009112"]
["Diaphragmatic weakness","HP:0009113"]
["Aplasia/hypoplasia involving the skeleton","HP:0009115"]
["Aplasia/Hypoplasia involving bones of the skull","HP:0009116"]
["Aplasia/Hypoplasia of the maxilla","HP:0009117"]
["Aplasia/Hypoplasia of the mandible","HP:0009118"]
["Aplasia/Hypoplasia of the frontal sinuses","HP:0009119"]
["Aplasia/Hypoplasia involving the sinuses","HP:0009120"]
["Abnormal axial skeleton morphology","HP:0009121"]
["Aplasia/hypoplasia affecting bones of the axial skeleton","HP:0009122"]
["Mixed hypo- and hyperpigmentation of the skin","HP:0009123"]
["Abnormal adipose tissue morphology","HP:0009124"]
["Lipodystrophy","HP:0009125"]
["Increased adipose tissue","HP:0009126"]
["Abnormality of the musculature of the limbs","HP:0009127"]
["Aplasia/Hypoplasia involving the musculature of the extremities","HP:0009128"]
["Upper limb amyotrophy","HP:0009129"]
["Hand muscle atrophy","HP:0009130"]
["Abnormality of the musculature of the thorax","HP:0009131"]
["Abnormal tarsal bone mineral density","HP:0009132"]
["Osteolysis involving bones of the feet","HP:0009134"]
["Duplication involving bones of the feet","HP:0009136"]
["Synostosis involving bones of the lower limbs","HP:0009138"]
["Osteolysis involving bones of the lower limbs","HP:0009139"]
["Synostosis involving bones of the feet","HP:0009140"]
["Depletion of mitochondrial DNA in muscle tissue","HP:0009141"]
["Duplication of bones involving the upper extremities","HP:0009142"]
["Supernumerary bones of the axial skeleton","HP:0009144"]
["Abnormal cerebral artery morphology","HP:0009145"]
["Enlarged epiphysis of the distal phalanx of the 5th finger","HP:0009147"]
["Small epiphysis of the distal phalanx of the 5th finger","HP:0009148"]
["Triangular epiphysis of the distal phalanx of the 5th finger","HP:0009149"]
["Abnormality of the proximal phalanx of the 5th finger","HP:0009150"]
["Abnormality of the epiphyses of the 5th finger","HP:0009152"]
["Abnormality of the epiphysis of the proximal phalanx of the 5th finger","HP:0009153"]
["Triangular epiphysis of the proximal phalanx of the 5th finger","HP:0009154"]
["Cone-shaped epiphysis of the proximal phalanx of the 5th finger","HP:0009155"]
["Ivory epiphysis of the proximal phalanx of the 5th finger","HP:0009157"]
["Enlarged epiphysis of the proximal phalanx of the 5th finger","HP:0009158"]
["Small epiphysis of the proximal phalanx of the 5th finger","HP:0009159"]
["Absent epiphysis of the proximal phalanx of the 5th finger","HP:0009160"]
["Aplasia/Hypoplasia of the middle phalanx of the 5th finger","HP:0009161"]
["Absent middle phalanx of 5th finger","HP:0009162"]
["obsolete Abnormal form of the 5th finger","HP:0009163"]
["Abnormal calcification of the carpal bones","HP:0009164"]
["Stippling of the epiphysis of the distal phalanx of the 5th finger","HP:0009165"]
["Fragmentation of the epiphysis of the distal phalanx of the 5th finger","HP:0009166"]
["Irregular epiphysis of the distal phalanx of the 5th finger","HP:0009167"]
["Bullet-shaped middle phalanx of the 5th finger","HP:0009168"]
["Broad middle phalanx of the 5th finger","HP:0009169"]
["Osteolytic defects of the middle phalanx of the 5th finger","HP:0009170"]
["Triangular epiphyses of the metacarpals","HP:0009171"]
["Abnormal 4th finger phalanx morphology","HP:0009172"]
["Curved middle phalanx of the 5th finger","HP:0009173"]
["Abnormality of the epiphyses of the 4th finger","HP:0009174"]
["Patchy sclerosis of the middle phalanx of the 5th finger","HP:0009175"]
["Proximal/middle symphalangism of 5th finger","HP:0009177"]
["Symphalangism of middle phalanx of 5th finger","HP:0009178"]
["Deviation of the 5th finger","HP:0009179"]
["Ulnar deviation of the 5th finger","HP:0009180"]
["Triangular shaped middle phalanx of the 5th finger","HP:0009182"]
["Joint contracture of the 5th finger","HP:0009183"]
["Contracture of the distal interphalangeal joint of the 5th finger","HP:0009184"]
["Contracture of the proximal interphalangeal joint of the 5th finger","HP:0009185"]
["Contracture of the metacarpophalangeal joint of the 5th finger","HP:0009186"]
["Bracket epiphysis of the distal phalanx of the 5th finger","HP:0009187"]
["Pseudoepiphysis of the distal phalanx of the 5th finger","HP:0009188"]
["Fragmentation of the metacarpal epiphyses","HP:0009189"]
["Irregular epiphyses of the metacarpals","HP:0009190"]
["Ivory epiphyses of the metacarpals","HP:0009191"]
["Aplasia/Hypoplasia of the proximal phalanx of the 5th finger","HP:0009192"]
["Pseudoepiphyses of the metacarpals","HP:0009193"]
["Small epiphyses of the metacarpals","HP:0009194"]
["Epiphyseal stippling of the metacarpals","HP:0009195"]
["Absent metacarpal epiphyses","HP:0009196"]
["Bracket epiphysis of the proximal phalanx of the 5th finger","HP:0009197"]
["Abnormality of the epiphysis of the distal phalanx of the 5th finger","HP:0009198"]
["Irregular epiphysis of the proximal phalanx of the 5th finger","HP:0009199"]
["Pseudoepiphysis of the proximal phalanx of the 5th finger","HP:0009200"]
["Stippling of the epiphysis of the proximal phalanx of the 5th finger","HP:0009201"]
["Fragmentation of the epiphysis of the proximal phalanx of the 5th finger","HP:0009202"]
["Absent epiphysis of the middle phalanx of the 5th finger","HP:0009203"]
["Bracket epiphysis of the middle phalanx of the 5th finger","HP:0009204"]
["Cone-shaped epiphysis of the middle phalanx of the 5th finger","HP:0009205"]
["Enlarged epiphysis of the middle phalanx of the 5th finger","HP:0009206"]
["Fragmentation of the epiphysis of the middle phalanx of the 5th finger","HP:0009207"]
["Irregular epiphysis of the middle phalanx of the 5th finger","HP:0009208"]
["Ivory epiphysis of the middle phalanx of the 5th finger","HP:0009209"]
["Pseudoepiphysis of the middle phalanx of the 5th finger","HP:0009210"]
["Small epiphysis of the middle phalanx of the 5th finger","HP:0009211"]
["Stippling of the epiphysis of the middle phalanx of the 5th finger","HP:0009212"]
["Triangular epiphysis of the middle phalanx of the 5th finger","HP:0009213"]
["Absent epiphysis of the middle phalanx of the 4th finger","HP:0009214"]
["Bracket epiphysis of the middle phalanx of the 4th finger","HP:0009215"]
["Cone-shaped epiphysis of the middle phalanx of the 4th finger","HP:0009216"]
["Enlarged epiphysis of the middle phalanx of the 4th finger","HP:0009217"]
["Fragmentation of the epiphysis of the middle phalanx of the 4th finger","HP:0009218"]
["Irregular epiphysis of the middle phalanx of the 4th finger","HP:0009219"]
["Ivory epiphysis of the middle phalanx of the 4th finger","HP:0009220"]
["Pseudoepiphysis of the middle phalanx of the 4th finger","HP:0009221"]
["Small epiphysis of the middle phalanx of the 4th finger","HP:0009222"]
["Stippling of the epiphysis of the middle phalanx of the 4th finger","HP:0009223"]
["Triangular epiphysis of the middle phalanx of the 4th finger","HP:0009224"]
["Aplasia of the proximal phalanx of the 5th finger","HP:0009225"]
["Short proximal phalanx of the 5th finger","HP:0009226"]
["Broad proximal phalanx of the 5th finger","HP:0009227"]
["Bullet-shaped proximal phalanx of the 5th finger","HP:0009228"]
["Curved proximal phalanx of the 5th finger","HP:0009229"]
["Osteolytic defects of the proximal phalanx of the 5th finger","HP:0009230"]
["Patchy sclerosis of the proximal phalanx of the 5th finger","HP:0009231"]
["Symphalangism affecting the proximal phalanx of the 5th finger","HP:0009232"]
["Triangular shaped proximal phalanx of the 5th finger","HP:0009233"]
["Symphalangism of the proximal phalanx of the 5th finger with the 5th metacarpal","HP:0009234"]
["Rhomboid or triangular shaped 5th finger proximal phalanx","HP:0009236"]
["Short 5th finger","HP:0009237"]
["Aplasia of the 5th finger","HP:0009238"]
["Aplasia/Hypoplasia of the distal phalanx of the 5th finger","HP:0009239"]
["Broad distal phalanx of the 5th finger","HP:0009240"]
["Bullet-shaped distal phalanx of the 5th finger","HP:0009241"]
["Osteolytic defects of the distal phalanx of the 5th finger","HP:0009242"]
["Patchy sclerosis of the distal phalanx of the 5th finger","HP:0009243"]
["Distal/middle symphalangism of 5th finger","HP:0009244"]
["Triangular shaped distal phalanx of the 5th finger","HP:0009245"]
["Aplasia of the distal phalanx of the 5th finger","HP:0009246"]
["Abnormality of the epiphysis of the middle phalanx of the 4th finger","HP:0009247"]
["Abnormality of the epiphysis of the proximal phalanx of the 4th finger","HP:0009248"]
["Abnormality of the epiphysis of the distal phalanx of the 4th finger","HP:0009249"]
["Absent epiphysis of the distal phalanx of the 4th finger","HP:0009250"]
["Bracket epiphysis of the distal phalanx of the 4th finger","HP:0009251"]
["Cone-shaped epiphysis of the distal phalanx of the 4th finger","HP:0009252"]
["Enlarged epiphysis of the distal phalanx of the 4th finger","HP:0009253"]
["Fragmentation of the epiphysis of the distal phalanx of the 4th finger","HP:0009254"]
["Irregular epiphysis of the distal phalanx of the 4th finger","HP:0009255"]
["Ivory epiphysis of the distal phalanx of the 4th finger","HP:0009256"]
["Pseudoepiphysis of the distal phalanx of the 4th finger","HP:0009257"]
["Small epiphysis of the distal phalanx of the 4th finger","HP:0009258"]
["Stippling of the epiphysis of the distal phalanx of the 4th finger","HP:0009259"]
["Triangular epiphysis of the distal phalanx of the 4th finger","HP:0009260"]
["Absent epiphysis of the proximal phalanx of the 4th finger","HP:0009261"]
["Bracket epiphysis of the proximal phalanx of the 4th finger","HP:0009262"]
["Cone-shaped epiphysis of the proximal phalanx of the 4th finger","HP:0009263"]
["Enlarged epiphysis of the proximal phalanx of the 4th finger","HP:0009264"]
["Fragmentation of the epiphysis of the proximal phalanx of the 4th finger","HP:0009265"]
["Irregular epiphysis of the proximal phalanx of the 4th finger","HP:0009266"]
["Ivory epiphysis of the proximal phalanx of the 4th finger","HP:0009267"]
["Pseudoepiphysis of the proximal phalanx of the 4th finger","HP:0009268"]
["Small epiphysis of the proximal phalanx of the 4th finger","HP:0009269"]
["Stippling of the epiphysis of the proximal phalanx of the 4th finger","HP:0009270"]
["Triangular epiphysis of the proximal phalanx of the 4th finger","HP:0009271"]
["Aplasia/Hypoplasia of the 4th finger","HP:0009272"]
["Deviation of the 4th finger","HP:0009273"]
["Joint contracture of the 4th finger","HP:0009274"]
["Contracture of the distal interphalangeal joint of the 4th finger","HP:0009275"]
["Contracture of the proximal interphalangeal joint of the 4th finger","HP:0009276"]
["Contracture of the metacarpophalangeal joint of the 4th finger","HP:0009277"]
["Ulnar deviation of the 4th finger","HP:0009278"]
["Radial deviation of the 4th finger","HP:0009279"]
["Short 4th finger","HP:0009280"]
["Aplasia of the 4th finger","HP:0009281"]
["Abnormality of the distal phalanx of the 4th finger","HP:0009282"]
["Abnormality of the middle phalanx of the 4th finger","HP:0009283"]
["Abnormality of the proximal phalanx of the 4th finger","HP:0009284"]
["Curved phalanges of the 4th finger","HP:0009285"]
["Curved distal phalanx of the 4th finger","HP:0009286"]
["Curved middle phalanx of the 4th finger","HP:0009287"]
["Curved proximal phalanx of the 4th finger","HP:0009288"]
["Aplasia/Hypoplasia of the distal phalanx of the 4th finger","HP:0009289"]
["Short distal phalanx of the 4th finger","HP:0009290"]
["Aplasia of the distal phalanx of the 4th finger","HP:0009291"]
["Broad distal phalanx of the 4th finger","HP:0009292"]
["Broad middle phalanx of the 4th finger","HP:0009293"]
["Absent middle phalanx of 4th finger","HP:0009294"]
["Short middle phalanx of the 4th finger","HP:0009295"]
["Bullet-shaped middle phalanx of the 4th finger","HP:0009296"]
["Osteolytic defects of the middle phalanx of the 4th finger","HP:0009297"]
["Aplasia of the proximal phalanx of the 4th finger","HP:0009298"]
["Aplasia/Hypoplasia of the middle phalanx of the 4th finger","HP:0009299"]
["Aplasia/Hypoplasia of the proximal phalanx of the 4th finger","HP:0009300"]
["Short proximal phalanx of the 4th finger","HP:0009301"]
["Bullet-shaped distal phalanx of the 4th finger","HP:0009302"]
["Osteolytic defects of the distal phalanx of the 4th finger","HP:0009303"]
["Patchy sclerosis of the distal phalanx of the 4th finger","HP:0009304"]
["Distal/middle symphalangism of 4th finger","HP:0009305"]
["Triangular shaped distal phalanx of the 4th finger","HP:0009306"]
["Patchy sclerosis of the middle phalanx of the 4th finger","HP:0009307"]
["Symphalangism of middle phalanx of 4th finger","HP:0009308"]
["Triangular shaped middle phalanx of the 4th finger","HP:0009309"]
["Broad proximal phalanx of the 4th finger","HP:0009310"]
["Bullet-shaped proximal phalanx of the 4th finger","HP:0009311"]
["Osteolytic defects of the proximal phalanx of the 4th finger","HP:0009312"]
["Patchy sclerosis of the proximal phalanx of the 4th finger","HP:0009313"]
["Symphalangism affecting the proximal phalanx of the 4th finger","HP:0009314"]
["Triangular shaped proximal phalanx of the 4th finger","HP:0009315"]
["Abnormal 3rd finger phalanx morphology","HP:0009316"]
["Deviation of the 3rd finger","HP:0009317"]
["Aplasia/Hypoplasia of the 3rd finger","HP:0009318"]
["Joint contracture of the 3rd finger","HP:0009319"]
["Abnormality of the epiphyses of the 3rd finger","HP:0009320"]
["Absent epiphysis of the middle phalanx of the 3rd finger","HP:0009321"]
["Bracket epiphysis of the middle phalanx of the 3rd finger","HP:0009322"]
["Cone-shaped epiphysis of the middle phalanx of the 3rd finger","HP:0009323"]
["Enlarged epiphysis of the middle phalanx of the 3rd finger","HP:0009324"]
["Fragmentation of the epiphysis of the middle phalanx of the 3rd finger","HP:0009325"]
["Irregular epiphysis of the middle phalanx of the 3rd finger","HP:0009326"]
["Ivory epiphysis of the middle phalanx of the 3rd finger","HP:0009327"]
["Pseudoepiphysis of the middle phalanx of the 3rd finger","HP:0009328"]
["Small epiphysis of the middle phalanx of the 3rd finger","HP:0009329"]
["Stippling of the epiphysis of the middle phalanx of the 3rd finger","HP:0009330"]
["Triangular epiphysis of the middle phalanx of the 3rd finger","HP:0009331"]
["Abnormality of the epiphysis of the distal phalanx of the 3rd finger","HP:0009332"]
["Abnormality of the epiphysis of the proximal phalanx of the 3rd finger","HP:0009333"]
["Abnormality of the epiphysis of the middle phalanx of the 3rd finger","HP:0009334"]
["Absent epiphysis of the distal phalanx of the 3rd finger","HP:0009335"]
["Bracket epiphysis of the distal phalanx of the 3rd finger","HP:0009336"]
["Cone-shaped epiphysis of the distal phalanx of the 3rd finger","HP:0009337"]
["Enlarged epiphysis of the distal phalanx of the 3rd finger","HP:0009338"]
["Fragmentation of the epiphysis of the distal phalanx of the 3rd finger","HP:0009339"]
["Irregular epiphysis of the distal phalanx of the 3rd finger","HP:0009340"]
["Ivory epiphysis of the distal phalanx of the 3rd finger","HP:0009341"]
["Pseudoepiphysis of the distal phalanx of the 3rd finger","HP:0009342"]
["Small epiphysis of the distal phalanx of the 3rd finger","HP:0009343"]
["Stippling of the epiphysis of the distal phalanx of the 3rd finger","HP:0009344"]
["Triangular epiphysis of the distal phalanx of the 3rd finger","HP:0009345"]
["Absent epiphysis of the proximal phalanx of the 3rd finger","HP:0009346"]
["Bracket epiphysis of the proximal phalanx of the 3rd finger","HP:0009347"]
["Cone-shaped epiphysis of the proximal phalanx of the 3rd finger","HP:0009348"]
["Enlarged epiphysis of the proximal phalanx of the 3rd finger","HP:0009349"]
["Fragmentation of the epiphysis of the proximal phalanx of the 3rd finger","HP:0009350"]
["Irregular epiphysis of the proximal phalanx of the 3rd finger","HP:0009351"]
["Ivory epiphysis of the proximal phalanx of the 3rd finger","HP:0009352"]
["Pseudoepiphysis of the proximal phalanx of the 3rd finger","HP:0009353"]
["Small epiphysis of the proximal phalanx of the 3rd finger","HP:0009354"]
["Stippling of the epiphysis of the proximal phalanx of the 3rd finger","HP:0009355"]
["Triangular epiphysis of the proximal phalanx of the 3rd finger","HP:0009356"]
["Abnormality of the distal phalanx of the 3rd finger","HP:0009357"]
["Abnormality of the proximal phalanx of the 3rd finger","HP:0009358"]
["Type A brachydactyly","HP:0009370"]
["Type A1 brachydactyly","HP:0009371"]
["Type A2 brachydactyly","HP:0009372"]
["Type C brachydactyly","HP:0009373"]
["Broad phalanges of the 5th finger","HP:0009374"]
["Bullet-shaped phalanges of the 5th finger","HP:0009375"]
["Aplasia/Hypoplasia of the phalanges of the 5th finger","HP:0009376"]
["Patchy sclerosis of 5th finger phalanx","HP:0009377"]
["Triangular shaped phalanges of the 5th finger","HP:0009378"]
["Rhomboid or triangular shaped 5th finger distal phalanx","HP:0009379"]
["Aplasia of the fingers","HP:0009380"]
["Short finger","HP:0009381"]
["Absent epiphyses of the 5th finger","HP:0009382"]
["Bracket epiphyses of the 5th finger","HP:0009383"]
["Cone-shaped epiphyses of the 5th finger","HP:0009384"]
["Enlarged epiphyses of the 5th finger","HP:0009385"]
["Fragmentation of the epiphyses of the 5th finger","HP:0009386"]
["Irregular epiphyses of the 5th finger","HP:0009387"]
["Ivory epiphyses of the 5th finger","HP:0009388"]
["Pseudoepiphyses of the 5th finger","HP:0009389"]
["Small epiphyses of the 5th finger","HP:0009390"]
["Stippling of the epiphyses of the 5th finger","HP:0009391"]
["Triangular epiphyses of the 5th finger","HP:0009392"]
["Absent epiphyses of the 4th finger","HP:0009393"]
["Bracket epiphyses of the 4th finger","HP:0009394"]
["Cone-shaped epiphyses of the 4th finger","HP:0009395"]
["Enlarged epiphyses of the 4th finger","HP:0009396"]
["Fragmentation of the epiphyses of the 4th finger","HP:0009397"]
["Irregular epiphyses of the 4th finger","HP:0009398"]
["Ivory epiphyses of the 4th finger","HP:0009399"]
["Pseudoepiphyses of the 4th finger","HP:0009400"]
["Small epiphyses of the 4th finger","HP:0009401"]
["Stippling of the epiphyses of the 4th finger","HP:0009402"]
["Triangular epiphyses of the 4th finger","HP:0009403"]
["Broad phalanges of the 4th finger","HP:0009404"]
["Bullet-shaped phalanges of the 4th finger","HP:0009405"]
["Patchy sclerosis of 4th finger phalanx","HP:0009406"]
["Triangular shaped phalanges of the 4th finger","HP:0009407"]
["Aplasia/Hypoplasia of the phalanges of the 4th finger","HP:0009408"]
["Absent epiphyses of the 3rd finger","HP:0009410"]
["Bracket epiphyses of the 3rd finger","HP:0009411"]
["Cone-shaped epiphyses of the 3rd finger","HP:0009412"]
["Enlarged epiphyses of the 3rd finger","HP:0009413"]
["Fragmentation of the epiphyses of the 3rd finger","HP:0009414"]
["Irregular epiphyses of the 3rd finger","HP:0009415"]
["Ivory epiphyses of the 3rd finger","HP:0009416"]
["Pseudoepiphyses of the 3rd finger","HP:0009417"]
["Small epiphyses of the 3rd finger","HP:0009418"]
["Stippling of the epiphyses of the 3rd finger","HP:0009419"]
["Triangular epiphyses of the 3rd finger","HP:0009420"]
["Aplasia/Hypoplasia of the distal phalanx of the 3rd finger","HP:0009421"]
["Broad distal phalanx of the 3rd finger","HP:0009422"]
["Bullet-shaped distal phalanx of the 3rd finger","HP:0009423"]
["Osteolytic defects of the distal phalanx of the 3rd finger","HP:0009424"]
["Patchy sclerosis of the distal phalanx of the 3rd finger","HP:0009425"]
["Distal/middle symphalangism of 3rd finger","HP:0009426"]
["Triangular shaped distal phalanx of the 3rd finger","HP:0009427"]
["Curved distal phalanx of the 3rd finger","HP:0009428"]
["Aplasia of the distal phalanx of the 3rd finger","HP:0009429"]
["Broad middle phalanx of the 3rd finger","HP:0009430"]
["Bullet-shaped middle phalanx of the 3rd finger","HP:0009431"]
["Curved middle phalanx of the 3rd finger","HP:0009432"]
["Osteolytic defects of the middle phalanx of the 3rd finger","HP:0009433"]
["Patchy sclerosis of the middle phalanx of the 3rd finger","HP:0009434"]
["Symphalangism of middle phalanx of 3rd finger","HP:0009435"]
["Triangular shaped middle phalanx of the 3rd finger","HP:0009436"]
["Aplasia/Hypoplasia of the middle phalanx of the 3rd finger","HP:0009437"]
["Absent middle phalanx of 3rd finger","HP:0009438"]
["Short middle phalanx of the 3rd finger","HP:0009439"]
["Broad phalanges of the 3rd finger","HP:0009440"]
["Bullet-shaped phalanges of the 3rd finger","HP:0009441"]
["Curved phalanges of the 3rd finger","HP:0009442"]
["Osteolytic defects of the phalanges of the 3rd finger","HP:0009443"]
["Patchy sclerosis of 3rd finger phalanx","HP:0009444"]
["Symphalangism of the 3rd finger","HP:0009445"]
["Triangular shaped phalanges of the 3rd finger","HP:0009446"]
["Aplasia/Hypoplasia of the phalanges of the 3rd finger","HP:0009447"]
["obsolete Aplasia of the phalanges of the 3rd finger","HP:0009448"]
["obsolete Hypoplastic/small phalanges of the 3rd finger","HP:0009449"]
["Broad proximal phalanx of the 3rd finger","HP:0009450"]
["Bullet-shaped proximal phalanx of the 3rd finger","HP:0009451"]
["Curved proximal phalanx of the 3rd finger","HP:0009452"]
["Osteolytic defects of the proximal phalanx of the 3rd finger","HP:0009453"]
["Patchy sclerosis of the proximal phalanx of the 3rd finger","HP:0009454"]
["Symphalangism affecting the proximal phalanx of the 3rd finger","HP:0009455"]
["Triangular shaped proximal phalanx of the 3rd finger","HP:0009456"]
["Aplasia/Hypoplasia of the proximal phalanx of the 3rd finger","HP:0009457"]
["Aplasia of the proximal phalanx of the 3rd finger","HP:0009458"]
["Short proximal phalanx of the 3rd finger","HP:0009459"]
["Aplasia of the 3rd finger","HP:0009460"]
["Short 3rd finger","HP:0009461"]
["Radial deviation of the 3rd finger","HP:0009462"]
["Ulnar deviation of the 3rd finger","HP:0009463"]
["Ulnar deviation of the 2nd finger","HP:0009464"]
["Ulnar deviation of finger","HP:0009465"]
["Radial deviation of finger","HP:0009466"]
["Radial deviation of the 2nd finger","HP:0009467"]
["Deviation of the 2nd finger","HP:0009468"]
["Contracture of the distal interphalangeal joint of the 3rd finger","HP:0009469"]
["Contracture of the metacarpophalangeal joint of the 3rd finger","HP:0009470"]
["Contracture of the proximal interphalangeal joint of the 3rd finger","HP:0009471"]
["Joint contracture of the hand","HP:0009473"]
["Proximal/middle symphalangism of 4th finger","HP:0009477"]
["Symphalangism of the proximal phalanx of the 4th finger with the 4th metacarpal","HP:0009478"]
["Proximal/middle symphalangism of 3rd finger","HP:0009482"]
["Symphalangism of the proximal phalanx of the 3rd finger with the 3rd metacarpal","HP:0009483"]
["Deviation of the hand or of fingers of the hand","HP:0009484"]
["Radial deviation of the hand or of fingers of the hand","HP:0009485"]
["Radial deviation of the hand","HP:0009486"]
["Ulnar deviation of the hand","HP:0009487"]
["Absent epiphyses of the 2nd finger","HP:0009488"]
["Bracket epiphyses of the 2nd finger","HP:0009489"]
["Cone-shaped epiphyses of the 2nd finger","HP:0009490"]
["Enlarged epiphyses of the 2nd finger","HP:0009491"]
["Fragmentation of the epiphyses of the 2nd finger","HP:0009492"]
["Irregular epiphyses of the 2nd finger","HP:0009493"]
["Ivory epiphyses of the 2nd finger","HP:0009494"]
["Pseudoepiphyses of the 2nd finger","HP:0009495"]
["Small epiphyses of the 2nd finger","HP:0009496"]
["Stippling of the epiphyses of the 2nd finger","HP:0009497"]
["Triangular epiphyses of the 2nd finger","HP:0009498"]
["Abnormality of the epiphysis of the distal phalanx of the 2nd finger","HP:0009499"]
["Abnormality of the epiphysis of the middle phalanx of the 2nd finger","HP:0009500"]
["Abnormality of the epiphysis of the proximal phalanx of the 2nd finger","HP:0009501"]
["Absent epiphysis of the distal phalanx of the 2nd finger","HP:0009502"]
["Bracket epiphysis of the distal phalanx of the 2nd finger","HP:0009503"]
["Cone-shaped epiphysis of the distal phalanx of the 2nd finger","HP:0009504"]
["Enlarged epiphysis of the distal phalanx of the 2nd finger","HP:0009505"]
["Fragmentation of the epiphysis of the distal phalanx of the 2nd finger","HP:0009506"]
["Irregular epiphysis of the distal phalanx of the 2nd finger","HP:0009507"]
["Ivory epiphysis of the distal phalanx of the 2nd finger","HP:0009508"]
["Pseudoepiphysis of the distal phalanx of the 2nd finger","HP:0009509"]
["Small epiphysis of the distal phalanx of the 2nd finger","HP:0009510"]
["Stippling of the epiphysis of the distal phalanx of the 2nd finger","HP:0009511"]
["Triangular epiphysis of the distal phalanx of the 2nd finger","HP:0009512"]
["Absent epiphysis of the middle phalanx of the 2nd finger","HP:0009513"]
["Bracket epiphysis of the middle phalanx of the 2nd finger","HP:0009514"]
["Cone-shaped epiphysis of the middle phalanx of the 2nd finger","HP:0009515"]
["Enlarged epiphysis of the middle phalanx of the 2nd finger","HP:0009516"]
["Fragmentation of the epiphysis of the middle phalanx of the 2nd finger","HP:0009517"]
["Irregular epiphysis of the middle phalanx of the 2nd finger","HP:0009518"]
["Ivory epiphysis of the middle phalanx of the 2nd finger","HP:0009519"]
["Pseudoepiphysis of the middle phalanx of the 2nd finger","HP:0009520"]
["Small epiphysis of the middle phalanx of the 2nd finger","HP:0009521"]
["Stippling of the epiphysis of the middle phalanx of the 2nd finger","HP:0009522"]
["Triangular epiphysis of the middle phalanx of the 2nd finger","HP:0009523"]
["Absent epiphysis of the proximal phalanx of the 2nd finger","HP:0009524"]
["Bracket epiphysis of the proximal phalanx of the 2nd finger","HP:0009525"]
["Cone-shaped epiphysis of the proximal phalanx of the 2nd finger","HP:0009526"]
["Enlarged epiphysis of the proximal phalanx of the 2nd finger","HP:0009527"]
["Fragmentation of the epiphysis of the proximal phalanx of the 2nd finger","HP:0009528"]
["Irregular epiphysis of the proximal phalanx of the 2nd finger","HP:0009529"]
["Ivory epiphysis of the proximal phalanx of the 2nd finger","HP:0009530"]
["Pseudoepiphysis of the proximal phalanx of the 2nd finger","HP:0009531"]
["Small epiphysis of the proximal phalanx of the 2nd finger","HP:0009532"]
["Stippling of the epiphysis of the proximal phalanx of the 2nd finger","HP:0009533"]
["Triangular epiphysis of the proximal phalanx of the 2nd finger","HP:0009534"]
["Aplasia of the 2nd finger","HP:0009535"]
["Short 2nd finger","HP:0009536"]
["Flexion contracture of the 2nd finger","HP:0009537"]
["Contracture of the distal interphalangeal joint of the 2nd finger","HP:0009538"]
["Contracture of the metacarpophalangeal joint of the 2nd finger","HP:0009539"]
["Contracture of the proximal interphalangeal joint of the 2nd finger","HP:0009540"]
["Abnormality of the phalanges of the 2nd finger","HP:0009541"]
["Abnormality of the distal phalanx of the 2nd finger","HP:0009542"]
["Abnormality of the middle phalanx of the 2nd finger","HP:0009543"]
["Abnormality of the proximal phalanx of the 2nd finger","HP:0009544"]
["Symphalangism of the 2nd finger","HP:0009545"]
["Triangular shaped phalanges of the 2nd finger","HP:0009546"]
["Broad phalanges of the 2nd finger","HP:0009547"]
["Bullet-shaped phalanges of the 2nd finger","HP:0009548"]
["Curved phalanges of the 2nd finger","HP:0009549"]
["Osteolytic defects of the phalanges of the 2nd finger","HP:0009550"]
["Patchy sclerosis of 2nd finger phalanx","HP:0009551"]
["Aplasia/Hypoplasia of the phalanges of the 2nd finger","HP:0009552"]
["Abnormality of the hairline","HP:0009553"]
["Preauricular hair displacement","HP:0009554"]
["Hypoplasia of the pharynx","HP:0009555"]
["Absent tibia","HP:0009556"]
["Aplasia/Hypoplasia of the distal phalanx of the 2nd finger","HP:0009557"]
["Broad distal phalanx of the 2nd finger","HP:0009558"]
["Bullet-shaped distal phalanx of the 2nd finger","HP:0009559"]
["Curved distal phalanx of the 2nd finger","HP:0009560"]
["Osteolytic defects of the distal phalanx of the 2nd finger","HP:0009561"]
["Patchy sclerosis of the distal phalanx of the 2nd finger","HP:0009562"]
["Distal/middle symphalangism of 2nd finger","HP:0009563"]
["Triangular shaped distal phalanx of the 2nd finger","HP:0009564"]
["Aplasia of the distal phalanx of the 2nd finger","HP:0009565"]
["Short distal phalanx of the 2nd finger","HP:0009566"]
["Aplasia/Hypoplasia of the middle phalanx of the 2nd finger","HP:0009568"]
["Broad middle phalanx of the 2nd finger","HP:0009569"]
["Bullet-shaped middle phalanx of the 2nd finger","HP:0009570"]
["Curved middle phalanx of the 2nd finger","HP:0009571"]
["Osteolytic defects of the middle phalanx of the 2nd finger","HP:0009572"]
["Patchy sclerosis of the middle phalanx of the 2nd finger","HP:0009573"]
["Symphalangism of middle phalanx of 2nd finger","HP:0009574"]
["Triangular shaped middle phalanx of the 2nd finger","HP:0009575"]
["Absent middle phalanx of 2nd finger","HP:0009576"]
["Short middle phalanx of the 2nd finger","HP:0009577"]
["Proximal/middle symphalangism of the 2nd finger","HP:0009579"]
["Aplasia/Hypoplasia of the proximal phalanx of the 2nd finger","HP:0009580"]
["Broad proximal phalanx of the 2nd finger","HP:0009581"]
["Bullet-shaped proximal phalanx of the 2nd finger","HP:0009582"]
["Curved proximal phalanx of the 2nd finger","HP:0009583"]
["Osteolytic defects of the proximal phalanx of the 2nd finger","HP:0009584"]
["Patchy sclerosis of the proximal phalanx of the 2nd finger","HP:0009585"]
["Symphalangism affecting the proximal phalanx of the 2nd finger","HP:0009586"]
["Triangular shaped proximal phalanx of the 2nd finger","HP:0009587"]
["Vestibular Schwannoma","HP:0009588"]
["Bilateral vestibular Schwannoma","HP:0009589"]
["Unilateral vestibular Schwannoma","HP:0009590"]
["Abnormality of the vestibulocochlear nerve","HP:0009591"]
["Astrocytoma","HP:0009592"]
["Peripheral Schwannoma","HP:0009593"]
["Retinal hamartoma","HP:0009594"]
["Occasional neurofibromas","HP:0009595"]
["Aplasia of the proximal phalanx of the 2nd finger","HP:0009596"]
["Short proximal phalanx of the 2nd finger","HP:0009597"]
["Symphalangism of the proximal phalanx of the 2nd finger with the 2nd metacarpal","HP:0009598"]
["Abnormality of thumb epiphysis","HP:0009599"]
["Flexion contracture of thumb","HP:0009600"]
["Aplasia/Hypoplasia of the thumb","HP:0009601"]
["Abnormality of thumb phalanx","HP:0009602"]
["Deviation of the thumb","HP:0009603"]
["Complete duplication of distal phalanx of the thumb","HP:0009606"]
["Complete duplication of proximal phalanx of the thumb","HP:0009608"]
["Duplication of the 1st metacarpal","HP:0009609"]
["Bifid distal phalanx of the thumb","HP:0009611"]
["Duplication of the distal phalanx of the thumb","HP:0009612"]
["Duplication of the proximal phalanx of the thumb","HP:0009613"]
["Bifid proximal phalanx of the thumb","HP:0009614"]
["Complete duplication of the first metacarpal","HP:0009615"]
["Bifid first metacarpal","HP:0009616"]
["Abnormality of the distal phalanx of the thumb","HP:0009617"]
["Abnormality of the proximal phalanx of the thumb","HP:0009618"]
["obsolete Radial deviation of the thumb","HP:0009620"]
["obsolete Ulnar deviation of the thumb","HP:0009621"]
["Distally placed thumb","HP:0009622"]
["Proximal placement of thumb","HP:0009623"]
["Contractures of the carpometacarpal joint of the thumb","HP:0009624"]
["Contractures of the metacarpophalangeal joint of the thumb","HP:0009625"]
["Contractures of the interphalangeal joint of the thumb","HP:0009626"]
["Aplasia/Hypoplasia of the proximal phalanx of the thumb","HP:0009629"]
["Broad proximal phalanx of the thumb","HP:0009630"]
["Bullet-shaped proximal phalanx of the thumb","HP:0009631"]
["Curved proximal phalanx of the thumb","HP:0009632"]
["Osteolytic defect of the proximal phalanx of the thumb","HP:0009633"]
["Patchy sclerosis of the proximal phalanx of the thumb","HP:0009634"]
["Synostosis of thumb phalanx","HP:0009635"]
["Triangular shaped proximal phalanx of the thumb","HP:0009636"]
["Absent proximal phalanx of thumb","HP:0009637"]
["Short proximal phalanx of thumb","HP:0009638"]
["Synostosis of the proximal phalanx of the thumb with the 1st metacarpal","HP:0009640"]
["Aplasia/Hypoplasia of the distal phalanx of the thumb","HP:0009641"]
["Broad distal phalanx of the thumb","HP:0009642"]
["Bullet-shaped distal phalanx of the thumb","HP:0009643"]
["Curved distal phalanx of the thumb","HP:0009644"]
["Osteolytic defect of the distal phalanx of the thumb","HP:0009645"]
["Patchy sclerosis of the distal phalanx of the thumb","HP:0009646"]
["Triangular shaped distal phalanx of the thumb","HP:0009648"]
["Aplasia of the distal phalanx of the thumb","HP:0009649"]
["Short distal phalanx of the thumb","HP:0009650"]
["Bullet-shaped thumb phalanx","HP:0009652"]
["Curved thumb phalanx","HP:0009653"]
["Osteolytic defect of thumb phalanx","HP:0009654"]
["Patchy sclerosis of thumb phalanx","HP:0009655"]
["Symphalangism of the thumb","HP:0009656"]
["Triangular shaped thumb phalanx","HP:0009657"]
["Aplasia/Hypoplasia of the phalanges of the thumb","HP:0009658"]
["Partial absence of thumb","HP:0009659"]
["Short phalanx of the thumb","HP:0009660"]
["Abnormality of the epiphysis of the distal phalanx of the thumb","HP:0009662"]
["Abnormality of the epiphysis of the proximal phalanx of the thumb","HP:0009663"]
["Absent epiphysis of the proximal phalanx of the thumb","HP:0009664"]
["Bracket epiphysis of the proximal phalanx of the thumb","HP:0009665"]
["Cone-shaped epiphysis of the proximal phalanx of the thumb","HP:0009666"]
["Enlarged epiphysis of the proximal phalanx of the thumb","HP:0009667"]
["Fragmentation of the epiphysis of the proximal phalanx of the thumb","HP:0009668"]
["Irregular epiphysis of the proximal phalanx of the thumb","HP:0009669"]
["Ivory epiphysis of the proximal phalanx of the thumb","HP:0009670"]
["Pseudoepiphysis of the proximal phalanx of the thumb","HP:0009671"]
["Small epiphysis of the proximal phalanx of the thumb","HP:0009672"]
["Stippling of the epiphysis of the proximal phalanx of the thumb","HP:0009673"]
["Triangular epiphysis of the proximal phalanx of the thumb","HP:0009674"]
["Absent epiphysis of the distal phalanx of the thumb","HP:0009675"]
["Bracket epiphysis of the distal phalanx of the thumb","HP:0009676"]
["Cone-shaped epiphysis of the distal phalanx of the thumb","HP:0009677"]
["Enlarged epiphysis of the distal phalanx of the thumb","HP:0009678"]
["Fragmentation of the epiphysis of the distal phalanx of the thumb","HP:0009679"]
["Irregular epiphysis of the distal phalanx of the thumb","HP:0009680"]
["Ivory epiphysis of the distal phalanx of the thumb","HP:0009681"]
["Pseudoepiphysis of the distal phalanx of the thumb","HP:0009682"]
["Small epiphysis of the distal phalanx of the thumb","HP:0009683"]
["Stippling of the epiphysis of the distal phalanx of the thumb","HP:0009684"]
["Triangular epiphysis of the distal phalanx of the thumb","HP:0009685"]
["Absent epiphyses of the thumb","HP:0009686"]
["Bracket epiphyses of the thumb","HP:0009687"]
["Cone-shaped epiphysis of the thumb","HP:0009688"]
["Enlarged thumb epiphysis","HP:0009689"]
["Fragmentation of thumb epiphysis","HP:0009690"]
["Irregular thumb epiphysis","HP:0009691"]
["Ivory epiphysis of the thumb","HP:0009692"]
["Pseudoepiphysis of the thumb","HP:0009693"]
["Small thumb epiphysis","HP:0009694"]
["Stippling of thumb epiphysis","HP:0009695"]
["Triangular epiphyses of the thumb","HP:0009696"]
["Contracture of the distal interphalangeal joint of the fingers","HP:0009697"]
["Osteolytic defects of the hand bones","HP:0009699"]
["Finger symphalangism","HP:0009700"]
["Metacarpal synostosis","HP:0009701"]
["Carpal synostosis","HP:0009702"]
["Synostosis involving the 1st metacarpal","HP:0009703"]
["Chronic CSF lymphocytosis","HP:0009704"]
["Synostosis involving the 2nd metacarpal","HP:0009705"]
["Synostosis involving the 3rd metacarpal","HP:0009706"]
["Synostosis involving the 4th metacarpal","HP:0009707"]
["Synostosis involving the 5th metacarpal","HP:0009708"]
["Increased CSF interferon alpha","HP:0009709"]
["Chilblains","HP:0009710"]
["Retinal capillary hemangioma","HP:0009711"]
["Spinal hemangioblastoma","HP:0009713"]
["Abnormality of the epididymis","HP:0009714"]
["Papillary cystadenoma of the epididymis","HP:0009715"]
["Subependymal nodules","HP:0009716"]
["Cortical tubers","HP:0009717"]
["Subependymal giant-cell astrocytoma","HP:0009718"]
["Hypomelanotic macule","HP:0009719"]
["Adenoma sebaceum","HP:0009720"]
["Shagreen patch","HP:0009721"]
["Dental enamel pits","HP:0009722"]
["Abnormality of the subungual region","HP:0009723"]
["Subungual fibromas","HP:0009724"]
["Bladder neoplasm","HP:0009725"]
["Renal neoplasm","HP:0009726"]
["Achromatic retinal patches","HP:0009727"]
["Neoplasm of striated muscle","HP:0009728"]
["Cardiac rhabdomyoma","HP:0009729"]
["Rhabdomyoma","HP:0009730"]
["Cerebral hamartoma","HP:0009731"]
["Plexiform neurofibroma","HP:0009732"]
["Glioma","HP:0009733"]
["Optic nerve glioma","HP:0009734"]
["Spinal neurofibromas","HP:0009735"]
["Tibial pseudarthrosis","HP:0009736"]
["Lisch nodules","HP:0009737"]
["Abnormality of the antihelix","HP:0009738"]
["Hypoplasia of the antihelix","HP:0009739"]
["Aplasia of the parotid gland","HP:0009740"]
["Nephrosclerosis","HP:0009741"]
["Stiff shoulders","HP:0009742"]
["Distichiasis","HP:0009743"]
["Abnormal spinal dura mater morphology","HP:0009744"]
["Spinal arachnoid cyst","HP:0009745"]
["Thick nasal septum","HP:0009746"]
["Lumbosacral hirsutism","HP:0009747"]
["Large earlobe","HP:0009748"]
["Aplasia of the pectoralis major muscle","HP:0009751"]
["Cleft in skull base","HP:0009752"]
["Fibrous syngnathia","HP:0009754"]
["Ankyloblepharon","HP:0009755"]
["Popliteal pterygium","HP:0009756"]
["Intercrural pterygium","HP:0009757"]
["Pyramidal skinfold extending from the base to the top of the nails","HP:0009758"]
["Neck pterygia","HP:0009759"]
["Antecubital pterygium","HP:0009760"]
["Anterior clefting of vertebral bodies","HP:0009761"]
["Facial wrinkling","HP:0009762"]
["Limb pain","HP:0009763"]
["Low hanging columella","HP:0009765"]
["Aplasia/Hypoplasia of the phalanges of the hand","HP:0009767"]
["Broad phalanges of the hand","HP:0009768"]
["Bullet-shaped phalanges of the hand","HP:0009769"]
["Curved phalanges of the hand","HP:0009770"]
["Osteolytic defects of the phalanges of the hand","HP:0009771"]
["Patchy sclerosis of finger phalanx","HP:0009772"]
["Symphalangism affecting the phalanges of the hand","HP:0009773"]
["Triangular shaped phalanges of the hand","HP:0009774"]
["Amniotic constriction ring","HP:0009775"]
["Adactyly","HP:0009776"]
["Absent thumb","HP:0009777"]
["Short thumb","HP:0009778"]
["3-4 toe syndactyly","HP:0009779"]
["Iliac horns","HP:0009780"]
["Lester's sign","HP:0009781"]
["Aplasia/Hypoplasia of the biceps","HP:0009782"]
["Biceps aplasia","HP:0009783"]
["Aplasia/Hypoplasia of the triceps","HP:0009784"]
["Triceps aplasia","HP:0009785"]
["Aplasia/Hypoplasia of the musculature of the thigh","HP:0009786"]
["Aplasia/Hypoplasia of the quadriceps","HP:0009787"]
["Quadriceps aplasia","HP:0009788"]
["Perianal abscess","HP:0009789"]
["Hemisacrum","HP:0009790"]
["Bifid sacrum","HP:0009791"]
["Teratoma","HP:0009792"]
["Presacral teratoma","HP:0009793"]
["Branchial anomaly","HP:0009794"]
["Branchial fistula","HP:0009795"]
["Branchial cyst","HP:0009796"]
["Cholesteatoma","HP:0009797"]
["Euthyroid goiter","HP:0009798"]
["Supernumerary spleens","HP:0009799"]
["Maternal diabetes","HP:0009800"]
["Aplasia of the phalanges of the hand","HP:0009802"]
["Short phalanx of finger","HP:0009803"]
["Tooth agenesis","HP:0009804"]
["Low-output congestive heart failure","HP:0009805"]
["Nephrogenic diabetes insipidus","HP:0009806"]
["Anomaly of the upper limb diaphyses","HP:0009808"]
["Abnormality of upper limb metaphysis","HP:0009809"]
["Abnormality of upper limb joint","HP:0009810"]
["Abnormality of the elbow","HP:0009811"]
["Amelia involving the upper limbs","HP:0009812"]
["Upper limb phocomelia","HP:0009813"]
["Upper limb peromelia","HP:0009814"]
["Aplasia/hypoplasia of the extremities","HP:0009815"]
["Lower limb undergrowth","HP:0009816"]
["Aplasia involving bones of the lower limbs","HP:0009817"]
["Amelia involving the lower limbs","HP:0009818"]
["Lower limb phocomelia","HP:0009819"]
["Lower limb peromelia","HP:0009820"]
["Forearm undergrowth","HP:0009821"]
["Aplasia involving forearm bones","HP:0009822"]
["Aplasia involving bones of the upper limbs","HP:0009823"]
["Upper limb undergrowth","HP:0009824"]
["Aplasia involving bones of the extremities","HP:0009825"]
["Limb undergrowth","HP:0009826"]
["Amelia","HP:0009827"]
["Peromelia","HP:0009828"]
["Phocomelia","HP:0009829"]
["Peripheral neuropathy","HP:0009830"]
["Mononeuropathy","HP:0009831"]
["Abnormal distal phalanx morphology of finger","HP:0009832"]
["Abnormal middle phalanx morphology of the hand","HP:0009833"]
["Abnormal proximal phalanx morphology of the hand","HP:0009834"]
["Aplasia/Hypoplasia of the distal phalanges of the hand","HP:0009835"]
["Broad distal phalanx of finger","HP:0009836"]
["Bullet-shaped distal phalanges of the hand","HP:0009837"]
["Curved distal phalanges of the hand","HP:0009838"]
["Osteolytic defects of the distal phalanges of the hand","HP:0009839"]
["Patchy sclerosis of distal phalanx of finger","HP:0009840"]
["Aplasia/Hypoplasia of the middle phalanges of the hand","HP:0009843"]
["Broad middle phalanx of finger","HP:0009844"]
["Bullet-shaped middle phalanges of the hand","HP:0009845"]
["Curved middle phalanges of the hand","HP:0009846"]
["Osteolytic defects of the middle phalanges of the hand","HP:0009847"]
["Patchy sclerosis of middle phalanx of finger","HP:0009848"]
["Symphalangism of middle phalanx of finger","HP:0009849"]
["Triangular shaped middle phalanges of the hand","HP:0009850"]
["Aplasia/Hypoplasia of the proximal phalanges of the hand","HP:0009851"]
["Broad proximal phalanges of the hand","HP:0009852"]
["Bullet-shaped proximal phalanges of the hand","HP:0009853"]
["Curved proximal phalanges of the hand","HP:0009854"]
["Osteolytic defects of the proximal phalanges of the hand","HP:0009855"]
["Patchy sclerosis of proximal phalanx of finger","HP:0009856"]
["Symphalangism affecting the proximal phalanges of the hand","HP:0009857"]
["Triangular shaped proximal phalanges of the hand","HP:0009858"]
["Triangular shaped distal phalanges of the hand","HP:0009875"]
["Cerebellar ataxia associated with quadrupedal gait","HP:0009878"]
["Simplified gyral pattern","HP:0009879"]
["Broad distal phalanges of all fingers","HP:0009880"]
["Aplasia of the distal phalanges of the hand","HP:0009881"]
["Short distal phalanx of finger","HP:0009882"]
["Duplication of the distal phalanx of hand","HP:0009883"]
["Tapered distal phalanges of finger","HP:0009884"]
["obsolete Prenatal short stature","HP:0009885"]
["Trichorrhexis nodosa","HP:0009886"]
["Abnormality of hair pigmentation","HP:0009887"]
["Abnormality of secondary sexual hair","HP:0009888"]
["Localized hirsutism","HP:0009889"]
["High anterior hairline","HP:0009890"]
["Underdeveloped supraorbital ridges","HP:0009891"]
["Anotia","HP:0009892"]
["Telangiectasia of the ear","HP:0009893"]
["Thickened ears","HP:0009894"]
["Abnormality of the crus of the helix","HP:0009895"]
["Abnormality of the antitragus","HP:0009896"]
["Horizontal crus of helix","HP:0009897"]
["Underdeveloped crus of the helix","HP:0009898"]
["Prominent crus of helix","HP:0009899"]
["Unilateral deafness","HP:0009900"]
["Crumpled ear","HP:0009901"]
["Cleft helix","HP:0009902"]
["Conjunctival nodule","HP:0009903"]
["Prominent ear helix","HP:0009904"]
["Thin ear helix","HP:0009905"]
["Aplasia/Hypoplasia of the earlobes","HP:0009906"]
["Attached earlobe","HP:0009907"]
["Anterior creases of earlobe","HP:0009908"]
["Uplifted earlobe","HP:0009909"]
["Aplasia of the middle ear ossicles","HP:0009910"]
["Abnormal temporal bone morphology","HP:0009911"]
["Abnormality of the tragus","HP:0009912"]
["Aplasia/Hypoplasia of the tragus","HP:0009913"]
["Cyclopia","HP:0009914"]
["Corneal asymmetry","HP:0009915"]
["Anisocoria","HP:0009916"]
["Persistent pupillary membrane","HP:0009917"]
["Ectopia pupillae","HP:0009918"]
["Retinoblastoma","HP:0009919"]
["Nevus of Ota","HP:0009920"]
["Duane anomaly","HP:0009921"]
["Vascular remnant arising from the disc","HP:0009922"]
["Aplasia/Hypoplasia involving the nose","HP:0009924"]
["Epiphora","HP:0009926"]
["Aplasia of the nose","HP:0009927"]
["Thick nasal alae","HP:0009928"]
["Abnormality of the columella","HP:0009929"]
["Asymmetry of the nares","HP:0009930"]
["Enlarged naris","HP:0009931"]
["Single naris","HP:0009932"]
["Narrow naris","HP:0009933"]
["Supernumerary naris","HP:0009934"]
["Aplasia/Hypoplasia of the nasal septum","HP:0009935"]
["Narrow nasal septum","HP:0009936"]
["Facial hirsutism","HP:0009937"]
["Sunken cheeks","HP:0009938"]
["Mandibular aplasia","HP:0009939"]
["Asymmetry of the mandible","HP:0009940"]
["Asymmetry of the mouth","HP:0009941"]
["Duplication of thumb phalanx","HP:0009942"]
["Complete duplication of thumb phalanx","HP:0009943"]
["Partial duplication of thumb phalanx","HP:0009944"]
["Duplication of phalanx of 2nd finger","HP:0009945"]
["Polydactyly affecting the 2nd finger","HP:0009946"]
["Duplication of the proximal phalanx of the 2nd finger","HP:0009947"]
["Duplication of the distal phalanx of the 2nd finger","HP:0009948"]
["Duplication of the middle phalanx of the 2nd finger","HP:0009949"]
["Complete duplication of the distal phalanx of the 2nd finger","HP:0009950"]
["Partial duplication of the distal phalanx of the 2nd finger","HP:0009951"]
["Complete duplication of the middle phalanx of the 2nd finger","HP:0009952"]
["Partial duplication of the middle phalanx of the 2nd finger","HP:0009953"]
["Complete duplication of the proximal phalanx of the 2nd finger","HP:0009954"]
["Partial duplication of the proximal phalanx of the 2nd finger","HP:0009955"]
["Partial duplication of the phalanges of the 2nd finger","HP:0009956"]
["Complete duplication of the phalanges of the 2nd finger","HP:0009957"]
["Polydactyly affecting the 3rd finger","HP:0009958"]
["Duplication of phalanx of 3rd finger","HP:0009959"]
["Complete duplication of the phalanges of the 3rd finger","HP:0009960"]
["Partial duplication of the phalanges of the 3rd finger","HP:0009961"]
["Duplication of the distal phalanx of the 3rd finger","HP:0009962"]
["Duplication of the middle phalanx of the 3rd finger","HP:0009963"]
["Duplication of the proximal phalanx of the 3rd finger","HP:0009964"]
["Complete duplication of the distal phalanx of the 3rd finger","HP:0009965"]
["Complete duplication of the middle phalanx of the 3rd finger","HP:0009966"]
["Complete duplication of the proximal phalanx of the 3rd finger","HP:0009967"]
["Partial duplication of the distal phalanx of the 3rd finger","HP:0009968"]
["Partial duplication of the middle phalanx of the 3rd finger","HP:0009969"]
["Partial duplication of the proximal phalanx of the 3rd finger","HP:0009970"]
["Polydactyly affecting the 4th finger","HP:0009971"]
["Duplication of phalanx of 4th finger","HP:0009972"]
["Complete duplication of the phalanges of the 4th finger","HP:0009973"]
["Partial duplication of the phalanges of the 4th finger","HP:0009974"]
["Duplication of the distal phalanx of the 4th finger","HP:0009975"]
["Duplication of the middle phalanx of the 4th finger","HP:0009976"]
["Duplication of the proximal phalanx of the 4th finger","HP:0009977"]
["Complete duplication of the distal phalanx of the 4th finger","HP:0009978"]
["Complete duplication of the middle phalanx of the 4th finger","HP:0009979"]
["Complete duplication of the proximal phalanx of the 4th finger","HP:0009980"]
["Partial duplication of the distal phalanx of the 4th finger","HP:0009981"]
["Partial duplication of the middle phalanx of the 4th finger","HP:0009982"]
["Partial duplication of the proximal phalanx of the 4th finger","HP:0009983"]
["Duplication of phalanx of 5th finger","HP:0009985"]
["Complete duplication of the phalanges of the 5th finger","HP:0009986"]
["Partial duplication of the phalanges of the 5th finger","HP:0009987"]
["Duplication of the distal phalanx of the 5th finger","HP:0009988"]
["Duplication of the middle phalanx of the 5th finger","HP:0009989"]
["Duplication of the proximal phalanx of the 5th finger","HP:0009990"]
["Complete duplication of the distal phalanx of the 5th finger","HP:0009991"]
["Complete duplication of the middle phalanx of the 5th finger","HP:0009992"]
["Complete duplication of the proximal phalanx of the 5th finger","HP:0009993"]
["Partial duplication of the distal phalanx of the 5th finger","HP:0009994"]
["Partial duplication of the middle phalanx of the 5th finger","HP:0009995"]
["Partial duplication of the proximal phalanx of the 5th finger","HP:0009996"]
["Duplication of phalanx of hand","HP:0009997"]
["Complete duplication of phalanx of hand","HP:0009998"]
["Partial duplication of the phalanx of hand","HP:0009999"]
["Complete duplication of the proximal phalanges of the hand","HP:0010000"]
["Complete duplication of the distal phalanges of the hand","HP:0010001"]
["Complete duplication of the middle phalanges of the hand","HP:0010002"]
["Partial duplication of the proximal phalanges of the hand","HP:0010003"]
["Partial duplication of the distal phalanges of the hand","HP:0010004"]
["Partial duplication of the middle phalanges of the hand","HP:0010005"]
["Duplication of the proximal phalanx of hand","HP:0010006"]
["Duplication of the middle phalanx of hand","HP:0010008"]
["Abnormality of the 1st metacarpal","HP:0010009"]
["Abnormality of the 2nd metacarpal","HP:0010010"]
["Abnormality of the 3rd metacarpal","HP:0010011"]
["Abnormality of the 4th metacarpal","HP:0010012"]
["Abnormality of the 5th metacarpal","HP:0010013"]
["Abnormality of the epiphysis of the 1st metacarpal","HP:0010014"]
["Absent epiphysis of the 1st metacarpal","HP:0010015"]
["Bracket epiphysis of the 1st metacarpal","HP:0010016"]
["Cone-shaped epiphysis of the 1st metacarpal","HP:0010017"]
["Enlarged epiphysis of the 1st metacarpal","HP:0010018"]
["Fragmentation of the epiphysis of the 1st metacarpal","HP:0010019"]
["Irregular epiphysis of the 1st metacarpal","HP:0010020"]
["Ivory epiphysis of the 1st metacarpal","HP:0010021"]
["Pseudoepiphysis of the 1st metacarpal","HP:0010022"]
["Small epiphysis of the 1st metacarpal","HP:0010023"]
["Epiphyseal stippling of the first metacarpal","HP:0010024"]
["Triangular epiphysis of the 1st metacarpal","HP:0010025"]
["Aplasia/Hypoplasia of the 1st metacarpal","HP:0010026"]
["Broad 1st metacarpal","HP:0010027"]
["Bullet-shaped 1st metacarpal","HP:0010028"]
["Curved 1st metacarpal","HP:0010029"]
["Osteolytic defects of the 1st metacarpal","HP:0010030"]
["Patchy sclerosis of the 1st metacarpal","HP:0010031"]
["Triangular shaped 1st metacarpal","HP:0010033"]
["Short 1st metacarpal","HP:0010034"]
["Aplasia of the 1st metacarpal","HP:0010035"]
["Aplasia/Hypoplasia of the 2nd metacarpal","HP:0010036"]
["Aplasia of the 2nd metacarpal","HP:0010037"]
["Short 2nd metacarpal","HP:0010038"]
["Aplasia/Hypoplasia of the 3rd metacarpal","HP:0010039"]
["Aplasia of the 3rd metacarpal","HP:0010040"]
["Short 3rd metacarpal","HP:0010041"]
["Aplasia/Hypoplasia of the 4th metacarpal","HP:0010042"]
["Aplasia of the 4th metacarpal","HP:0010043"]
["Short 4th metacarpal","HP:0010044"]
["Aplasia/Hypoplasia of the 5th metacarpal","HP:0010045"]
["Aplasia of the 5th metacarpal","HP:0010046"]
["Short 5th metacarpal","HP:0010047"]
["Aplasia of metacarpal bones","HP:0010048"]
["Short metacarpal","HP:0010049"]
["Deviation of the hallux","HP:0010051"]
["Abnormal morphology of the proximal phalanx of the hallux","HP:0010052"]
["Abnormality of the distal phalanx of the hallux","HP:0010053"]
["Abnormality of the first metatarsal bone","HP:0010054"]
["Broad hallux","HP:0010055"]
["Abnormality of the epiphyses of the hallux","HP:0010056"]
["Abnormality of the phalanges of the hallux","HP:0010057"]
["Aplasia/Hypoplasia of the phalanges of the hallux","HP:0010058"]
["Broad hallux phalanx","HP:0010059"]
["Bullet-shaped hallux phalanx","HP:0010060"]
["Curved hallux phalanx","HP:0010061"]
["Osteolytic defects of the phalanges of the hallux","HP:0010062"]
["Patchy sclerosis of hallux phalanx","HP:0010063"]
["Symphalangism affecting the phalanges of the hallux","HP:0010064"]
["Triangular shaped phalanges of the hallux","HP:0010065"]
["Duplication of phalanx of hallux","HP:0010066"]
["Aplasia/hypoplasia of the 1st metatarsal","HP:0010067"]
["Broad first metatarsal","HP:0010068"]
["Bullet-shaped 1st metatarsal","HP:0010069"]
["Curved 1st metatarsal","HP:0010070"]
["Osteolytic defects of the 1st metatarsal","HP:0010071"]
["Patchy sclerosis of the 1st metatarsal","HP:0010072"]
["Synostosis involving the 1st metatarsal","HP:0010073"]
["Triangular shaped 1st metatarsal","HP:0010074"]
["Duplication of the 1st metatarsal","HP:0010075"]
["Aplasia/Hypoplasia of the distal phalanx of the hallux","HP:0010076"]
["Broad distal phalanx of the hallux","HP:0010077"]
["Bullet-shaped distal phalanx of the hallux","HP:0010078"]
["Curved distal phalanx of the hallux","HP:0010079"]
["Osteolytic defects of the distal phalanx of the hallux","HP:0010080"]
["Patchy sclerosis of the distal phalanx of the hallux","HP:0010081"]
["Symphalangism affecting the distal phalanx of the hallux","HP:0010082"]
["Triangular shaped distal phalanx of the hallux","HP:0010083"]
["Duplication of the distal phalanx of the hallux","HP:0010084"]
["Aplasia/Hypoplasia of the proximal phalanx of the hallux","HP:0010085"]
["Broad proximal phalanx of the hallux","HP:0010086"]
["Bullet-shaped proximal phalanx of the hallux","HP:0010087"]
["Curved proximal phalanx of the hallux","HP:0010088"]
["Osteolytic defects of the proximal phalanx of the hallux","HP:0010089"]
["Patchy sclerosis of the proximal phalanx of the hallux","HP:0010090"]
["Symphalangism affecting the proximal phalanx of the hallux","HP:0010091"]
["Triangular shaped proximal phalanx of the hallux","HP:0010092"]
["Duplication of the proximal phalanx of the hallux","HP:0010093"]
["Complete duplication of the proximal phalanx of the hallux","HP:0010094"]
["Partial duplication of the proximal phalanx of the hallux","HP:0010095"]
["Complete duplication of the distal phalanx of the hallux","HP:0010096"]
["Partial duplication of the distal phalanx of the hallux","HP:0010097"]
["Complete duplication of the 1st metatarsal","HP:0010098"]
["Partial duplication of the 1st metatarsal","HP:0010099"]
["Complete duplication of hallux phalanx","HP:0010100"]
["Partial duplication of the phalanges of the hallux","HP:0010101"]
["Aplasia of the distal phalanx of the hallux","HP:0010102"]
["Short distal phalanx of hallux","HP:0010103"]
["Absent first metatarsal","HP:0010104"]
["Short first metatarsal","HP:0010105"]
["Aplasia of the proximal phalanx of the hallux","HP:0010106"]
["Short proximal phalanx of hallux","HP:0010107"]
["Short hallux","HP:0010109"]
["Aplasia of the phalanges of the hallux","HP:0010110"]
["Short phalanx of hallux","HP:0010111"]
["Mesoaxial foot polydactyly","HP:0010112"]
["Absent hallux epiphysis","HP:0010113"]
["Bracket epiphyses of the hallux","HP:0010114"]
["Cone-shaped epiphyses of the hallux","HP:0010115"]
["Enlarged epiphyses of the hallux","HP:0010116"]
["Fragmentation of the epiphyses of the hallux","HP:0010117"]
["Irregular epiphyses of the hallux","HP:0010118"]
["Ivory epiphyses of the hallux","HP:0010119"]
["Pseudoepiphyses of the hallux","HP:0010120"]
["Small epiphyses of the hallux","HP:0010121"]
["Stippling of the epiphyses of the hallux","HP:0010122"]
["Triangular epiphyses of the hallux","HP:0010123"]
["Abnormality of the epiphysis of the distal phalanx of the hallux","HP:0010124"]
["Abnormality of the epiphysis of the 1st metatarsal","HP:0010125"]
["Abnormality of the epiphysis of the proximal phalanx of the hallux","HP:0010126"]
["Absent epiphysis of the proximal phalanx of the hallux","HP:0010127"]
["Bracket epiphysis of the proximal phalanx of the hallux","HP:0010128"]
["Cone-shaped epiphysis of the proximal phalanx of the hallux","HP:0010129"]
["Enlarged epiphysis of the proximal phalanx of the hallux","HP:0010130"]
["Fragmentation of the epiphysis of the proximal phalanx of the hallux","HP:0010131"]
["Irregular epiphysis of the proximal phalanx of the hallux","HP:0010132"]
["Ivory epiphysis of the proximal phalanx of the hallux","HP:0010133"]
["Pseudoepiphysis of the proximal phalanx of the hallux","HP:0010134"]
["Small epiphysis of the proximal phalanx of the hallux","HP:0010135"]
["Stippling of the epiphysis of the proximal phalanx of the hallux","HP:0010136"]
["Triangular epiphysis of the proximal phalanx of the hallux","HP:0010137"]
["Absent epiphysis of the distal phalanx of the hallux","HP:0010138"]
["Bracket epiphysis of the distal phalanx of the hallux","HP:0010139"]
["Cone-shaped epiphysis of the distal phalanx of the hallux","HP:0010140"]
["Enlarged epiphysis of the distal phalanx of the hallux","HP:0010141"]
["Fragmentation of the epiphysis of the distal phalanx of the hallux","HP:0010142"]
["Irregular epiphysis of the distal phalanx of the hallux","HP:0010143"]
["Ivory epiphysis of the distal phalanx of the hallux","HP:0010144"]
["Pseudoepiphysis of the distal phalanx of the hallux","HP:0010145"]
["Small epiphysis of the distal phalanx of the hallux","HP:0010146"]
["Stippling of the epiphysis of the distal phalanx of the hallux","HP:0010147"]
["Triangular epiphysis of the distal phalanx of the hallux","HP:0010148"]
["Absent epiphysis of the 1st metatarsal","HP:0010149"]
["Bracket epiphysis of the 1st metatarsal","HP:0010150"]
["Cone-shaped epiphysis of the 1st metatarsal","HP:0010151"]
["Enlarged epiphysis of the 1st metatarsal","HP:0010152"]
["Fragmentation of the epiphysis of the 1st metatarsal","HP:0010153"]
["Irregular epiphysis of the 1st metatarsal","HP:0010154"]
["Ivory epiphysis of the 1st metatarsal","HP:0010155"]
["Pseudoepiphysis of the 1st metatarsal","HP:0010156"]
["Small epiphysis of the 1st metatarsal","HP:0010157"]
["Stippling of the epiphysis of the 1st metatarsal","HP:0010158"]
["Triangular epiphysis of the 1st metatarsal","HP:0010159"]
["Abnormality of the epiphyses of the toes","HP:0010160"]
["Abnormality of the phalanges of the toes","HP:0010161"]
["Absent epiphyses of the toes","HP:0010162"]
["Bracket epiphyses of the toes","HP:0010163"]
["Cone-shaped epiphyses of the toes","HP:0010164"]
["Enlarged epiphyses of the toes","HP:0010165"]
["Fragmentation of the epiphyses of the toes","HP:0010166"]
["Irregular epiphyses of the toes","HP:0010167"]
["Ivory epiphyses of the toes","HP:0010168"]
["Pseudoepiphyses of the toes","HP:0010169"]
["Small epiphyses of the toes","HP:0010170"]
["Epiphyseal stippling of toe phalanges","HP:0010171"]
["Triangular epiphyses of the toes","HP:0010172"]
["Aplasia/Hypoplasia of the phalanges of the toes","HP:0010173"]
["Broad phalanx of the toes","HP:0010174"]
["Bullet-shaped toe phalanx","HP:0010175"]
["Curved toe phalanx","HP:0010176"]
["Osteolytic defects of the phalanges of the toes","HP:0010177"]
["Patchy sclerosis of toe phalanx","HP:0010178"]
["Symphalangism affecting the phalanges of the toes","HP:0010179"]
["Triangular shaped phalanges of the toes","HP:0010180"]
["Duplication of phalanx of toe","HP:0010181"]
["Abnormality of the distal phalanges of the toes","HP:0010182"]
["Abnormality of the middle phalanges of the toes","HP:0010183"]
["Abnormality of toe proximal phalanx","HP:0010184"]
["Aplasia/Hypoplasia of the distal phalanges of the toes","HP:0010185"]
["Broad distal phalanx of the toes","HP:0010186"]
["Bullet-shaped distal toe phalanx","HP:0010187"]
["Curved distal toe phalanx","HP:0010188"]
["Osteolytic defects of the distal phalanges of the toes","HP:0010189"]
["Patchy sclerosis of distal toe phalanx","HP:0010190"]
["Symphalangism affecting the distal phalanges of the toes","HP:0010191"]
["Triangular shaped distal phalanges of the toes","HP:0010192"]
["Duplication of distal phalanx of toe","HP:0010193"]
["Aplasia/Hypoplasia of the middle phalanges of the toes","HP:0010194"]
["Broad middle phalanges of the toes","HP:0010195"]
["Bullet-shaped middle toe phalanx","HP:0010196"]
["Curved middle toe phalanx","HP:0010197"]
["Osteolytic defects of the middle phalanges of the toes","HP:0010198"]
["Patchy sclerosis of middle toe phalanx","HP:0010199"]
["Symphalangism affecting the middle phalanges of the toes","HP:0010200"]
["Triangular shaped middle phalanges of the toes","HP:0010201"]
["Duplication of middle phalanx of toe","HP:0010202"]
["Aplasia/hypoplasia of proximal toe phalanx","HP:0010203"]
["Broad proximal phalanx of toe","HP:0010204"]
["Bullet-shaped proximal toe phalanx","HP:0010205"]
["Curved proximal toe phalanx","HP:0010206"]
["Osteolytic defect of the proximal toe phalanx","HP:0010207"]
["Patchy sclerosis of proximal toe phalanx","HP:0010208"]
["Symphalangism affecting the proximal phalanges of the toes","HP:0010209"]
["Triangular shaped proximal phalanges of the toes","HP:0010210"]
["Duplication of proximal phalanx of toe","HP:0010211"]
["Flexion contracture of the hallux","HP:0010212"]
["Contracture of the tarsometatarsal joint of the hallux","HP:0010213"]
["Contracture of the interphalangeal joint of the hallux","HP:0010214"]
["Contractures of the metatarsophalangeal joint of the hallux","HP:0010215"]
["Structural foot deformity","HP:0010219"]
["Abnormality of the epiphysis of the 2nd metacarpal","HP:0010220"]
["obsolete Pseudoepiphysis of the 2nd metacarpal","HP:0010221"]
["Abnormality of the epiphysis of the 3rd metacarpal","HP:0010222"]
["Pseudoepiphysis of the 3rd metacarpal","HP:0010223"]
["Abnormality of the epiphysis of the 4th metacarpal","HP:0010224"]
["Pseudoepiphysis of the 4th metacarpal","HP:0010225"]
["Abnormality of the epiphysis of the 5th metacarpal","HP:0010226"]
["Pseudoepiphysis of the 5th metacarpal","HP:0010227"]
["Absent epiphyses of the phalanges of the hand","HP:0010228"]
["Bracket epiphyses of the phalanges of the hand","HP:0010229"]
["Cone-shaped epiphyses of the phalanges of the hand","HP:0010230"]
["Enlarged epiphyses of the phalanges of the hand","HP:0010231"]
["Fragmentation of the epiphyses of the phalanges of the hand","HP:0010232"]
["Irregular epiphyses of the phalanges of the hand","HP:0010233"]
["Ivory epiphyses of the phalanges of the hand","HP:0010234"]
["Pseudoepiphyses of the phalanges of the hand","HP:0010235"]
["Small epiphyses of the phalanges of the hand","HP:0010236"]
["Epiphyseal stippling of finger phalanges","HP:0010237"]
["Triangular epiphyses of the phalanges of the hand","HP:0010238"]
["Aplasia of the middle phalanx of the hand","HP:0010239"]
["Short proximal phalanx of finger","HP:0010241"]
["Aplasia of the proximal phalanges of the hand","HP:0010242"]
["Abnormality of the epiphyses of the distal phalanx of finger","HP:0010243"]
["Abnormality of the epiphyses of the middle phalanges of the hand","HP:0010244"]
["Abnormality of the epiphyses of the proximal phalanges of the hand","HP:0010245"]
["Absent epiphyses of the distal phalanges of the hand","HP:0010246"]
["Bracket epiphyses of the distal phalanges of the hand","HP:0010247"]
["Cone-shaped epiphyses of the distal phalanges of the hand","HP:0010248"]
["Enlarged epiphyses of the distal phalanges of the hand","HP:0010249"]
["Fragmentation of the epiphyses of the distal phalanges of the hand","HP:0010250"]
["Irregular epiphyses of the distal phalanges of the hand","HP:0010251"]
["Ivory epiphyses of the distal phalanges of the hand","HP:0010252"]
["Pseudoepiphyses of the distal phalanges of the hand","HP:0010253"]
["Small epiphyses of the distal phalanges of the hand","HP:0010254"]
["Stippling of the epiphyses of the distal phalanges of the hand","HP:0010255"]
["Triangular epiphyses of the distal phalanges of the hand","HP:0010256"]
["Absent epiphyses of the middle phalanges of the hand","HP:0010257"]
["Bracket epiphyses of the middle phalanges of the hand","HP:0010258"]
["Cone-shaped epiphyses of the middle phalanges of the hand","HP:0010259"]
["Enlarged epiphyses of the middle phalanges of the hand","HP:0010260"]
["Fragmentation of the epiphyses of the middle phalanges of the hand","HP:0010261"]
["Irregular epiphyses of the middle phalanges of the hand","HP:0010262"]
["Ivory epiphyses of the middle phalanges of the hand","HP:0010263"]
["Pseudoepiphyses of the middle phalanges of the hand","HP:0010264"]
["Small epiphyses of the middle phalanges of the hand","HP:0010265"]
["Stippling of the epiphyses of the middle phalanges of the hand","HP:0010266"]
["Triangular epiphyses of the middle phalanges of the hand","HP:0010267"]
["Absent epiphyses of the proximal phalanges of the hand","HP:0010268"]
["Bracket epiphyses of the proximal phalanges of the hand","HP:0010269"]
["Cone-shaped epiphyses of the proximal phalanges of the hand","HP:0010270"]
["Enlarged epiphyses of the proximal phalanges of the hand","HP:0010271"]
["Fragmentation of the epiphyses of the proximal phalanges of the hand","HP:0010272"]
["Irregular epiphyses of the proximal phalanges of the hand","HP:0010273"]
["Ivory epiphyses of the proximal phalanges of the hand","HP:0010274"]
["Pseudoepiphyses of the proximal phalanges of the hand","HP:0010275"]
["Small epiphyses of the proximal phalanges of the hand","HP:0010276"]
["Stippling of the epiphyses of the proximal phalanges of the hand","HP:0010277"]
["Triangular epiphyses of the proximal phalanges of the hand","HP:0010278"]
["Stomatitis","HP:0010280"]
["Cleft lower lip","HP:0010281"]
["Thin lower lip vermilion","HP:0010282"]
["Intra-oral hyperpigmentation","HP:0010284"]
["Oral synechia","HP:0010285"]
["Abnormal salivary gland morphology","HP:0010286"]
["Abnormality of the submandibular glands","HP:0010287"]
["Abnormality of the sublingual glands","HP:0010288"]
["Cleft of alveolar ridge of maxilla","HP:0010289"]
["Short hard palate","HP:0010290"]
["Prominent palatine ridges","HP:0010291"]
["Absent uvula","HP:0010292"]
["Aplasia/Hypoplasia of the uvula","HP:0010293"]
["Palate fistula","HP:0010294"]
["Aplasia/Hypoplasia of the tongue","HP:0010295"]
["Ankyloglossia","HP:0010296"]
["Bifid tongue","HP:0010297"]
["Smooth tongue","HP:0010298"]
["Abnormal dentin morphology","HP:0010299"]
["Abnormally low-pitched voice","HP:0010300"]
["Spinal dysraphism","HP:0010301"]
["Spinal cord tumor","HP:0010302"]
["Abnormal spinal meningeal morphology","HP:0010303"]
["Spinal meningeal diverticulum","HP:0010304"]
["Absence of the sacrum","HP:0010305"]
["Short thorax","HP:0010306"]
["Stridor","HP:0010307"]
["Asternia","HP:0010308"]
["Bifid sternum","HP:0010309"]
["Chylothorax","HP:0010310"]
["Aplasia/Hypoplasia of the breasts","HP:0010311"]
["Asymmetry of the breasts","HP:0010312"]
["Breast hypertrophy","HP:0010313"]
["Premature thelarche","HP:0010314"]
["Aplasia/Hypoplasia of the diaphragm","HP:0010315"]
["Ebstein anomaly of the tricuspid valve","HP:0010316"]
["Scapular aplasia","HP:0010317"]
["Aplasia/Hypoplasia of the abdominal wall musculature","HP:0010318"]
["Abnormality of the 2nd toe","HP:0010319"]
["Abnormality of the 3rd toe","HP:0010320"]
["Abnormality of the 4th toe","HP:0010321"]
["Abnormality of the 5th toe","HP:0010322"]
["Abnormality of the epiphyses of the 2nd toe","HP:0010323"]
["Abnormality of phalanx of the 2nd toe","HP:0010324"]
["Aplasia/Hypoplasia of the 2nd toe","HP:0010325"]
["Deviation of the 2nd toe","HP:0010326"]
["Flexion contracture of the 2nd toe","HP:0010327"]
["Polydactyly affecting the 2nd toe","HP:0010328"]
["Abnormality of the epiphyses of the 3rd toe","HP:0010329"]
["Abnormality of the phalanges of the 3rd toe","HP:0010330"]
["Aplasia/Hypoplasia of the 3rd toe","HP:0010331"]
["Deviation of the 3rd toe","HP:0010332"]
["Flexion contracture of 3rd toe","HP:0010333"]
["Polydactyly affecting the 3rd toe","HP:0010334"]
["Abnormality of the epiphyses of the 4th toe","HP:0010335"]
["Abnormality of the phalanges of the 4th toe","HP:0010336"]
["Aplasia/Hypoplasia of the 4th toe","HP:0010337"]
["Deviation of the 4th toe","HP:0010338"]
["Flexion contracture of the 4th toe","HP:0010339"]
["Polydactyly affecting the 4th toe","HP:0010340"]
["Abnormality of the epiphyses of the 5th toe","HP:0010341"]
["Abnormality of the phalanges of the 5th toe","HP:0010342"]
["Aplasia/Hypoplasia of the 5th toe","HP:0010343"]
["Deviation of the 5th toe","HP:0010344"]
["Flexion contracture of the 5th toe","HP:0010345"]
["Aplasia/Hypoplasia of the phalanges of the 2nd toe","HP:0010347"]
["Broad phalanges of the 2nd toe","HP:0010348"]
["Bullet-shaped 2nd toe phalanx","HP:0010349"]
["Curved 2nd toe phalanx","HP:0010350"]
["Osteolytic defects of the phalanges of the 2nd toe","HP:0010351"]
["Patchy sclerosis of 2nd toe phalanx","HP:0010352"]
["Symphalangism affecting the phalanges of the 2nd toe","HP:0010353"]
["Triangular shaped phalanges of the 2nd toe","HP:0010354"]
["Duplication of the phalanges of the 2nd toe","HP:0010355"]
["Abnormality of the distal phalanx of the 2nd toe","HP:0010356"]
["Abnormality of the middle phalanx of the 2nd toe","HP:0010357"]
["Abnormality of the proximal phalanx of the 2nd toe","HP:0010358"]
["Aplasia/Hypoplasia of the phalanges of the 3rd toe","HP:0010359"]
["Broad phalanges of the 3rd toe","HP:0010360"]
["Bullet-shaped 3rd toe phalanx","HP:0010361"]
["Curved 3rd toe phalanx","HP:0010362"]
["Osteolytic defects of the phalanges of the 3rd toe","HP:0010363"]
["Patchy sclerosis of 3rd toe phalanx","HP:0010364"]
["Symphalangism affecting the phalanges of the 3rd toe","HP:0010365"]
["Triangular shaped phalanges of the 3rd toe","HP:0010366"]
["Duplication of phalanx of the 3rd toe","HP:0010367"]
["Abnormality of the distal phalanx of the 3rd toe","HP:0010368"]
["Abnormality of the middle phalanx of the 3rd toe","HP:0010369"]
["Abnormality of the proximal phalanx of the 3rd toe","HP:0010370"]
["Aplasia/Hypoplasia of the phalanges of the 4th toe","HP:0010371"]
["Broad phalanges of the 4th toe","HP:0010372"]
["Bullet-shaped 4th toe phalanx","HP:0010373"]
["Curved 4th toe phalanx","HP:0010374"]
["Osteolytic defects of the phalanges of the 4th toe","HP:0010375"]
["Patchy sclerosis of 4th toe phalanx","HP:0010376"]
["Symphalangism affecting the phalanges of the 4th toe","HP:0010377"]
["Triangular shaped phalanges of the 4th toe","HP:0010378"]
["Duplication of phalanx of the 4th toe","HP:0010379"]
["Abnormality of the distal phalanx of the 4th toe","HP:0010380"]
["Abnormality of the middle phalanx of the 4th toe","HP:0010381"]
["Abnormality of the proximal phalanx of the 4th toe","HP:0010382"]
["Aplasia/Hypoplasia of the phalanges of the 5th toe","HP:0010383"]
["Broad phalanges of the 5th toe","HP:0010384"]
["Bullet-shaped 5th toe phalanx","HP:0010385"]
["Curved 5th toe phalanx","HP:0010386"]
["Osteolytic defects of the phalanges of the 5th toe","HP:0010387"]
["Patchy sclerosis of 5th toe phalanx","HP:0010388"]
["Symphalangism affecting the phalanges of the 5th toe","HP:0010389"]
["Triangular shaped phalanges of the 5th toe","HP:0010390"]
["Duplication of the phalanges of the 5th toe","HP:0010391"]
["Abnormality of the distal phalanx of the 5th toe","HP:0010392"]
["Abnormality of the middle phalanx of the 5th toe","HP:0010393"]
["Abnormality of the proximal phalanx of the 5th toe","HP:0010394"]
["Aplasia/hypoplasia of the proximal phalanx of the 2nd toe","HP:0010395"]
["Broad proximal phalanx of the 2nd toe","HP:0010396"]
["Bullet-shaped proximal phalanx of the 2nd toe","HP:0010397"]
["Curved proximal phalanx of the 2nd toe","HP:0010398"]
["Osteolytic defects of the proximal phalanx of the 2nd toe","HP:0010399"]
["Patchy sclerosis of the proximal phalanx of the 2nd toe","HP:0010400"]
["Symphalangism affecting the proximal phalanx of the 2nd toe","HP:0010401"]
["Triangular shaped proximal phalanx of the 2nd toe","HP:0010402"]
["Duplication of the proximal phalanx of the 2nd toe","HP:0010403"]
["Aplasia/Hypoplasia of the middle phalanx of the 2nd toe","HP:0010404"]
["Broad middle phalanx of the 2nd toe","HP:0010405"]
["Bullet-shaped middle phalanx of the 2nd toe","HP:0010406"]
["Curved middle phalanx of the 2nd toe","HP:0010407"]
["Osteolytic defects of the middle phalanx of the 2nd toe","HP:0010408"]
["Patchy sclerosis of the middle phalanx of the 2nd toe","HP:0010409"]
["Symphalangism affecting the middle phalanx of the 2nd toe","HP:0010410"]
["Triangular shaped middle phalanx of the 2nd toe","HP:0010411"]
["Duplication of the middle phalanx of the 2nd toe","HP:0010412"]
["Aplasia/Hypoplasia of the distal phalanx of the 2nd toe","HP:0010413"]
["Broad distal phalanx of the 2nd toe","HP:0010414"]
["Bullet-shaped distal phalanx of the 2nd toe","HP:0010415"]
["Curved distal phalanx of the 2nd toe","HP:0010416"]
["Osteolytic defects of the distal phalanx of the 2nd toe","HP:0010417"]
["Patchy sclerosis of the distal phalanx of the 2nd toe","HP:0010418"]
["Symphalangism affecting the distal phalanx of the 2nd toe","HP:0010419"]
["Triangular shaped distal phalanx of the 2nd toe","HP:0010420"]
["Duplication of the distal phalanx of the 2nd toe","HP:0010421"]
["Complete duplication of the proximal phalanx of the 2nd toe","HP:0010422"]
["Partial duplication of the proximal phalanx of the 2nd toe","HP:0010423"]
["Complete duplication of the distal phalanx of the 2nd toe","HP:0010424"]
["Partial duplication of the distal phalanx of the 2nd toe","HP:0010425"]
["Complete duplication of the middle phalanx of the 2nd toe","HP:0010426"]
["Partial duplication of the middle phalanx of the 2nd toe","HP:0010427"]
["Partial duplication of phalanx of the 2nd toe","HP:0010428"]
["Complete duplication of the phalanges of the 2nd toe","HP:0010429"]
["Aplasia of the phalanges of the 2nd toe","HP:0010430"]
["Short phalanx of the 2nd toe","HP:0010431"]
["Absent distal phalanx of the 2nd toe","HP:0010432"]
["Short distal phalanx of the 2nd toe","HP:0010433"]
["Aplasia of the middle phalanx of the 2nd toe","HP:0010434"]
["Short middle phalanx of the 2nd toe","HP:0010435"]
["Aplasia of the proximal phalanx of the 2nd toe","HP:0010436"]
["Short proximal phalanx of the 2nd toe","HP:0010437"]
["Abnormal ventricular septum morphology","HP:0010438"]
["Ectopic accesory toe-like appendage","HP:0010440"]
["Ectopic accessory finger-like appendage","HP:0010441"]
["Polydactyly","HP:0010442"]
["Bifid femur","HP:0010443"]
["Pulmonary insufficiency","HP:0010444"]
["Primum atrial septal defect","HP:0010445"]
["Tricuspid stenosis","HP:0010446"]
["Anal fistula","HP:0010447"]
["Colonic atresia","HP:0010448"]
["Esophageal stenosis","HP:0010450"]
["Aplasia/Hypoplasia of the spleen","HP:0010451"]
["Ectopia of the spleen","HP:0010452"]
["Pelvic bone asymmetry","HP:0010453"]
["Acetabular spurs","HP:0010454"]
["Steep acetabular roof","HP:0010455"]
["Abnormal greater sciatic notch morphology","HP:0010456"]
["obsolete Widening of the sacrosciatic notch","HP:0010457"]
["Female pseudohermaphroditism","HP:0010458"]
["True hermaphroditism","HP:0010459"]
["Abnormality of the female genitalia","HP:0010460"]
["Abnormality of the male genitalia","HP:0010461"]
["Aplasia/Hypoplasia of the ovary","HP:0010462"]
["Aplasia of the ovary","HP:0010463"]
["Streak ovary","HP:0010464"]
["Precocious puberty in females","HP:0010465"]
["Aplasia/Hypoplasia of the testes","HP:0010468"]
["Absent testis","HP:0010469"]
["Supernumerary testes","HP:0010470"]
["Oligosacchariduria","HP:0010471"]
["Abnormal circulating porphyrin concentration","HP:0010472"]
["Porphyrinuria","HP:0010473"]
["Bladder stones","HP:0010474"]
["Cloacal exstrophy","HP:0010475"]
["Aplasia/Hypoplasia of the bladder","HP:0010476"]
["Aplasia of the bladder","HP:0010477"]
["Abnormality of the urachus","HP:0010478"]
["Patent urachus","HP:0010479"]
["Urethral fistula","HP:0010480"]
["Urethral valve","HP:0010481"]
["Acromelia of the upper limbs","HP:0010482"]
["Amniotic constriction rings of arms","HP:0010483"]
["Hypertrophy of the upper limb","HP:0010484"]
["Hyperextensibility at elbow","HP:0010485"]
["Abnormality of the hypothenar eminence","HP:0010486"]
["Small hypothenar eminence","HP:0010487"]
["Aplasia/Hypoplasia of the palmar creases","HP:0010488"]
["Absent palmar crease","HP:0010489"]
["Abnormality of the palmar creases","HP:0010490"]
["Digital constriction ring","HP:0010491"]
["Osseous finger syndactyly","HP:0010492"]
["Long metacarpals","HP:0010493"]
["Acromelia of the lower limbs","HP:0010494"]
["Amniotic constriction rings of legs","HP:0010495"]
["Hypertrophy of the lower limb","HP:0010496"]
["Sirenomelia","HP:0010497"]
["Bipartite patella","HP:0010498"]
["Patellar subluxation","HP:0010499"]
["Hyperextensibility of the knee","HP:0010500"]
["Limitation of knee mobility","HP:0010501"]
["Fibular bowing","HP:0010502"]
["Fibular duplication","HP:0010503"]
["Increased length of the tibia","HP:0010504"]
["Limitation of movement at ankles","HP:0010505"]
["Abnormal plantar dermatoglyphics","HP:0010506"]
["Foot asymmetry","HP:0010507"]
["Metatarsus valgus","HP:0010508"]
["Aplasia of the tarsal bones","HP:0010509"]
["Hypermobility of toe joints","HP:0010510"]
["Long toe","HP:0010511"]
["Adrenal calcification","HP:0010512"]
["Pituitary calcification","HP:0010513"]
["Hyperpituitarism","HP:0010514"]
["Aplasia/Hypoplasia of the thymus","HP:0010515"]
["Thymus hyperplasia","HP:0010516"]
["Ectopic thymus tissue","HP:0010517"]
["Thyroglossal cyst","HP:0010518"]
["Increased fetal movement","HP:0010519"]
["Gait apraxia","HP:0010521"]
["Dyslexia","HP:0010522"]
["Alexia","HP:0010523"]
["Agnosia","HP:0010524"]
["Finger agnosia","HP:0010525"]
["Dysgraphia","HP:0010526"]
["Astereognosia","HP:0010527"]
["Prosopagnosia","HP:0010528"]
["Echolalia","HP:0010529"]
["Palatal myoclonus","HP:0010530"]
["Spinal myoclonus","HP:0010531"]
["Paroxysmal vertigo","HP:0010532"]
["Spasmus nutans","HP:0010533"]
["Transient global amnesia","HP:0010534"]
["Sleep apnea","HP:0010535"]
["Central sleep apnea","HP:0010536"]
["Wide cranial sutures","HP:0010537"]
["Small sella turcica","HP:0010538"]
["Thin calvarium","HP:0010539"]
["Advanced pneumatization of cranial sinuses","HP:0010540"]
["Cutis gyrata of scalp","HP:0010541"]
["Vestibular nystagmus","HP:0010542"]
["Opsoclonus","HP:0010543"]
["Vertical nystagmus","HP:0010544"]
["Downbeat nystagmus","HP:0010545"]
["Muscle fibrillation","HP:0010546"]
["Muscle flaccidity","HP:0010547"]
["Percussion myotonia","HP:0010548"]
["Weakness due to upper motor neuron dysfunction","HP:0010549"]
["Paraplegia","HP:0010550"]
["Paraplegia/paraparesis","HP:0010551"]
["Oculogyric crisis","HP:0010553"]
["Cutaneous finger syndactyly","HP:0010554"]
["Overlapping fingers","HP:0010557"]
["Abnormality of the clivus","HP:0010558"]
["Vertical clivus","HP:0010559"]
["Undulate clavicles","HP:0010560"]
["Undulate ribs","HP:0010561"]
["Keloids","HP:0010562"]
["Bifid epiglottis","HP:0010564"]
["Aplasia/Hypoplasia of the Epiglottis","HP:0010565"]
["Hamartoma","HP:0010566"]
["Y-shaped metatarsals","HP:0010567"]
["Hamartoma of the eye","HP:0010568"]
["Elevated 7-dehydrocholesterol","HP:0010569"]
["Low maternal serum alpha-fetoprotein","HP:0010570"]
["Elevated levels of phytanic acid","HP:0010571"]
["Abnormality of the epiphysis of the femoral head","HP:0010574"]
["Dysplasia of the femoral head","HP:0010575"]
["Intracranial cystic lesion","HP:0010576"]
["Absent epiphyses","HP:0010577"]
["Bracket epiphyses","HP:0010578"]
["Cone-shaped epiphysis","HP:0010579"]
["Enlarged epiphyses","HP:0010580"]
["Irregular epiphyses","HP:0010582"]
["Ivory epiphyses","HP:0010583"]
["Pseudoepiphyses","HP:0010584"]
["Small epiphyses","HP:0010585"]
["Triangular epiphyses","HP:0010587"]
["Premature epimetaphyseal fusion","HP:0010588"]
["Abnormality of the distal femoral epiphysis","HP:0010590"]
["Abnormality of the proximal tibial epiphysis","HP:0010591"]
["Abnormality of the distal tibial epiphysis","HP:0010592"]
["Abnormality of fibular epiphyses","HP:0010593"]
["Abnormality of the proximal fibular epiphysis","HP:0010594"]
["Abnormality of the distal fibular epiphysis","HP:0010595"]
["Abnormality of the proximal radial epiphysis","HP:0010596"]
["Abnormality of the distal radial epiphysis","HP:0010597"]
["Abnormality of the proximal humeral epiphysis","HP:0010598"]
["Abnormality of the distal humeral epiphysis","HP:0010599"]
["Abnormality of the distal ulnar epiphysis","HP:0010600"]
["Abnormality of the proximal ulnar epiphysis","HP:0010601"]
["Type 2 muscle fiber predominance","HP:0010602"]
["Odontogenic keratocysts of the jaw","HP:0010603"]
["Cyst of the eyelid","HP:0010604"]
["Chalazion","HP:0010605"]
["Hordeolum","HP:0010606"]
["Hordeolum externum","HP:0010607"]
["Hordeolum internum","HP:0010608"]
["Skin tags","HP:0010609"]
["Palmar pits","HP:0010610"]
["Plantar pits","HP:0010612"]
["Fibroma","HP:0010614"]
["Angiofibromas","HP:0010615"]
["Lung fibroma","HP:0010616"]
["Cardiac fibroma","HP:0010617"]
["Ovarian fibroma","HP:0010618"]
["Fibroadenoma of the breast","HP:0010619"]
["Malar prominence","HP:0010620"]
["Cutaneous syndactyly of toes","HP:0010621"]
["Neoplasm of the skeletal system","HP:0010622"]
["Aplastic/hypoplastic toenail","HP:0010624"]
["Anterior pituitary dysgenesis","HP:0010625"]
["Anterior pituitary agenesis","HP:0010626"]
["Anterior pituitary hypoplasia","HP:0010627"]
["Facial palsy","HP:0010628"]
["Abnormal morphology of the cortex of the humerus","HP:0010629"]
["Abnormality of metatarsal epiphysis","HP:0010630"]
["Abnormality of the epiphyses of the feet","HP:0010631"]
["Total anosmia","HP:0010632"]
["Partial anosmia","HP:0010633"]
["Total hyposmia","HP:0010634"]
["Partial hyposmia","HP:0010635"]
["Schizencephaly","HP:0010636"]
["Conjunctival amyloidosis","HP:0010637"]
["Elevated alkaline phosphatase of hepatic origin","HP:0010638"]
["Elevated alkaline phosphatase of bone origin","HP:0010639"]
["Abnormality of the nasal cavity","HP:0010640"]
["Abnormality of the midnasal cavity","HP:0010641"]
["Midnasal atresia","HP:0010643"]
["Midnasal stenosis","HP:0010644"]
["Aplasia of the distal phalanges of the toes","HP:0010645"]
["Cervical spine instability","HP:0010646"]
["Abnormal elasticity of skin","HP:0010647"]
["Dermal translucency","HP:0010648"]
["Flat nasal alae","HP:0010649"]
["Hypoplasia of the premaxilla","HP:0010650"]
["Abnormal meningeal morphology","HP:0010651"]
["Abnormal dura mater morphology","HP:0010652"]
["Abnormality of the falx cerebri","HP:0010653"]
["Aplasia of the falx cerebri","HP:0010654"]
["Epiphyseal stippling","HP:0010655"]
["Abnormal epiphyseal ossification","HP:0010656"]
["Patchy reduction of bone mineral density","HP:0010657"]
["Patchy changes of bone mineral density","HP:0010658"]
["Patchy variation in bone mineral density","HP:0010659"]
["Abnormal hand bone ossification","HP:0010660"]
["Absence of the third cerebral ventricle","HP:0010661"]
["Abnormality of the diencephalon","HP:0010662"]
["Abnormality of thalamus morphology","HP:0010663"]
["Fusion of the left and right thalami","HP:0010664"]
["Bilateral coxa valga","HP:0010665"]
["Hypoplasia of the anterior nasal spine","HP:0010666"]
["Aplasia of the maxilla","HP:0010667"]
["Abnormality of the zygomatic bone","HP:0010668"]
["Hypoplasia of the zygomatic bone","HP:0010669"]
["Abnormality of the third metatarsal bone","HP:0010672"]
["Abnormality of the curvature of the vertebral column","HP:0010674"]
["Abnormal foot bone ossification","HP:0010675"]
["Mechanical ileus","HP:0010676"]
["Enuresis nocturna","HP:0010677"]
["Enuresis diurna","HP:0010678"]
["Elevated tissue non-specific alkaline phosphatase","HP:0010679"]
["Elevated alkaline phosphatase of renal origin","HP:0010680"]
["Elevated intestinal alkaline phosphatase","HP:0010681"]
["Elevated placental alkaline phosphatase","HP:0010682"]
["Low tissue non-specific alkaline phosphatase","HP:0010683"]
["Low alkaline phosphatase of bone origin","HP:0010684"]
["Low alkaline phosphatase of renal origin","HP:0010685"]
["Low alkaline phosphatase of hepatic origin","HP:0010686"]
["Low intestinal alkaline phosphatase","HP:0010687"]
["Low placental alkaline phosphatase","HP:0010688"]
["Mirror image polydactyly","HP:0010689"]
["Mirror image hand polydactyly","HP:0010690"]
["Mirror image foot polydactyly","HP:0010691"]
["2-5 finger syndactyly","HP:0010692"]
["Pulverulent cataract","HP:0010693"]
["Lamellar pulverulent cataract","HP:0010694"]
["Sutural cataract","HP:0010695"]
["Polar cataract","HP:0010696"]
["Anterior pyramidal cataract","HP:0010697"]
["Nuclear pulverulent cataract","HP:0010698"]
["Triangular nuclear cataract","HP:0010699"]
["obsolete Total cataract","HP:0010700"]
["Abnormal immunoglobulin level","HP:0010701"]
["Increased circulating antibody level","HP:0010702"]
["1-2 finger syndactyly","HP:0010704"]
["4-5 finger syndactyly","HP:0010705"]
["1-3 finger syndactyly","HP:0010706"]
["1-4 finger syndactyly","HP:0010707"]
["1-5 finger syndactyly","HP:0010708"]
["2-4 finger syndactyly","HP:0010709"]
["3-5 finger syndactyly","HP:0010710"]
["1-2 toe syndactyly","HP:0010711"]
["1-4 toe syndactyly","HP:0010712"]
["1-5 toe syndactyly","HP:0010713"]
["2-4 toe syndactyly","HP:0010714"]
["2-5 toe syndactyly","HP:0010715"]
["3-5 toe syndactyly","HP:0010716"]
["Osseous syndactyly of toes","HP:0010717"]
["Abnormality of hair texture","HP:0010719"]
["Abnormal hair pattern","HP:0010720"]
["Abnormal hair whorl","HP:0010721"]
["Asymmetry of the ears","HP:0010722"]
["Cystic lesions of the pinnae","HP:0010723"]
["Advanced pneumatization of the mastoid process","HP:0010724"]
["Prominent corneal nerve fibers","HP:0010726"]
["Spontaneous rupture of the globe","HP:0010727"]
["Aplasia of the retina","HP:0010728"]
["Cherry red spot of the macula","HP:0010729"]
["Double eyebrow","HP:0010730"]
["Extension of eyebrows towards upper eyelid","HP:0010731"]
["Nodular changes affecting the eyelids","HP:0010732"]
["Naevus flammeus of the eyelid","HP:0010733"]
["Fibrous dysplasia of the bones","HP:0010734"]
["Polyostotic fibrous dysplasia","HP:0010735"]
["Monostotic fibrous dysplasia","HP:0010736"]
["Osteopoikilosis","HP:0010739"]
["Osteopathia striata","HP:0010740"]
["Pedal edema","HP:0010741"]
["Edema of the upper limbs","HP:0010742"]
["Short metatarsal","HP:0010743"]
["Absent metatarsal bone","HP:0010744"]
["Aplasia of the phalanges of the toes","HP:0010745"]
["Hypoplasia of the phalanges of the toes","HP:0010746"]
["Medial flaring of the eyebrow","HP:0010747"]
["Ectopic lacrimal punctum","HP:0010748"]
["Blepharochalasis","HP:0010749"]
["Dermatochalasis","HP:0010750"]
["Dimple chin","HP:0010751"]
["Cleft mandible","HP:0010752"]
["Midline defect of mandible","HP:0010753"]
["Abnormality of the temporomandibular joint","HP:0010754"]
["Asymmetry of the maxilla","HP:0010755"]
["Aplasia/Hypoplasia of the premaxilla","HP:0010756"]
["Aplasia of the premaxilla","HP:0010757"]
["Abnormality of the premaxilla","HP:0010758"]
["Prominence of the premaxilla","HP:0010759"]
["Absent toe","HP:0010760"]
["Broad columella","HP:0010761"]
["Chordoma","HP:0010762"]
["Low insertion of columella","HP:0010763"]
["Short eyelashes","HP:0010764"]
["Palmar hyperkeratosis","HP:0010765"]
["Ectopic calcification","HP:0010766"]
["Sacrococcygeal pilonidal abnormality","HP:0010767"]
["Pilonidal sinus","HP:0010769"]
["Pilonidal fistula","HP:0010770"]
["Pilonidal abscess","HP:0010771"]
["Anomalous pulmonary venous return","HP:0010772"]
["Partial anomalous pulmonary venous return","HP:0010773"]
["Cor triatriatum","HP:0010774"]
["Vascular ring","HP:0010775"]
["Tracheobronchmegaly","HP:0010776"]
["Bronchomegaly","HP:0010777"]
["Tracheomegaly","HP:0010778"]
["Large pelvis bone","HP:0010779"]
["Hyperacusis","HP:0010780"]
["Skin dimple","HP:0010781"]
["Shoulder dimple","HP:0010782"]
["Erythema","HP:0010783"]
["Uterine neoplasm","HP:0010784"]
["Gonadal neoplasm","HP:0010785"]
["Urinary tract neoplasm","HP:0010786"]
["Genital neoplasm","HP:0010787"]
["Testicular neoplasm","HP:0010788"]
["Abnormality of the Leydig cells","HP:0010789"]
["Hyoplasia of the Leydig cells","HP:0010790"]
["Hyperplasia of the Leydig cells","HP:0010791"]
["Bifid nail","HP:0010793"]
["Impaired visuospatial constructive cognition","HP:0010794"]
["Cerebellar glioma","HP:0010795"]
["Brainstem glioma","HP:0010796"]
["Hemangioblastoma","HP:0010797"]
["Lip freckle","HP:0010798"]
["Pinealoma","HP:0010799"]
["Absent cupid's bow","HP:0010800"]
["Underdeveloped nasolabial fold","HP:0010801"]
["Perioral hyperpigmentation","HP:0010802"]
["Everted upper lip vermilion","HP:0010803"]
["Tented upper lip vermilion","HP:0010804"]
["Upturned corners of mouth","HP:0010805"]
["U-Shaped upper lip vermilion","HP:0010806"]
["Open bite","HP:0010807"]
["Protruding tongue","HP:0010808"]
["Broad uvula","HP:0010809"]
["Long uvula","HP:0010810"]
["Narrow uvula","HP:0010811"]
["Short uvula","HP:0010812"]
["Abnormal number of hair whorls","HP:0010813"]
["Abnormal position of hair whorl","HP:0010814"]
["Nevus sebaceous","HP:0010815"]
["Epidermal nevus","HP:0010816"]
["Linear nevus sebaceous","HP:0010817"]
["Generalized tonic seizure","HP:0010818"]
["Atonic seizure","HP:0010819"]
["Focal emotional seizure with crying","HP:0010820"]
["Focal emotional seizure with laughing","HP:0010821"]
["Scintillating scotoma","HP:0010822"]
["Ridged cranial sutures","HP:0010823"]
["Abnormal fifth cranial nerve morphology","HP:0010824"]
["Abnormality of the eleventh cranial nerve","HP:0010825"]
["Abnormality of the twelfth cranial nerve","HP:0010826"]
["Abnormality of the seventh cranial nerve","HP:0010827"]
["Hemifacial spasm","HP:0010828"]
["Impaired temperature sensation","HP:0010829"]
["Impaired tactile sensation","HP:0010830"]
["Impaired proprioception","HP:0010831"]
["Abnormality of pain sensation","HP:0010832"]
["Spontaneous pain sensation","HP:0010833"]
["Trophic changes related to pain","HP:0010834"]
["Dissociated sensory loss","HP:0010835"]
["Abnormal circulating copper concentration","HP:0010836"]
["Decreased circulating ceruloplasmin concentration","HP:0010837"]
["High nonceruloplasmin-bound serum copper","HP:0010838"]
["Increased urinary copper concentration","HP:0010839"]
["Multifocal epileptiform discharges","HP:0010841"]
["EEG with focal slow activity","HP:0010843"]
["EEG with multifocal slow activity","HP:0010844"]
["EEG with generalized slow activity","HP:0010845"]
["EEG with persistent abnormal rhythmic activity","HP:0010846"]
["EEG with spike-wave complexes (<2.5 Hz)","HP:0010847"]
["EEG with spike-wave complexes (2.5-3.5 Hz)","HP:0010848"]
["EEG with spike-wave complexes (>3.5 Hz)","HP:0010849"]
["EEG with spike-wave complexes","HP:0010850"]
["EEG with burst suppression","HP:0010851"]
["EEG with photoparoxysmal response","HP:0010852"]
["EEG with periodic lateralized epileptiform discharges","HP:0010853"]
["EEG with generalized low amplitude activity","HP:0010854"]
["EEG with localized low amplitude activity","HP:0010855"]
["EEG with periodic complexes","HP:0010856"]
["EEG with periodic abnormalities","HP:0010857"]
["EEG with hyperventilation-induced epileptiform discharges","HP:0010858"]
["Frank breech presentation","HP:0010859"]
["Complete breech presentation","HP:0010860"]
["Incomplete breech presentation","HP:0010861"]
["Delayed fine motor development","HP:0010862"]
["Receptive language delay","HP:0010863"]
["Intellectual disability, severe","HP:0010864"]
["Oppositional defiant disorder","HP:0010865"]
["Abdominal wall defect","HP:0010866"]
["Dyssynergia","HP:0010867"]
["Ocular dyssynergia","HP:0010868"]
["Asynergia","HP:0010869"]
["Sensory ataxia","HP:0010871"]
["T-wave inversion","HP:0010872"]
["Cervical spinal cord atrophy","HP:0010873"]
["Tendon xanthomatosis","HP:0010874"]
["Chaddock reflex","HP:0010875"]
["Abnormal circulating protein concentration","HP:0010876"]
["Monocular strabismus","HP:0010877"]
["Fetal cystic hygroma","HP:0010878"]
["Postnatal cystic hygroma","HP:0010879"]
["Increased nuchal translucency","HP:0010880"]
["Abnormality of the umbilical cord","HP:0010881"]
["Pulmonary valve atresia","HP:0010882"]
["Aortic valve atresia","HP:0010883"]
["Acromelia","HP:0010884"]
["Avascular necrosis","HP:0010885"]
["Osteochondritis Dissecans","HP:0010886"]
["Morbus Koehler","HP:0010888"]
["Morbus Kienboeck","HP:0010889"]
["Morbus Osgood-Schlatter","HP:0010890"]
["Morbus Scheuermann","HP:0010891"]
["Abnormal circulating branched chain amino acid concentration","HP:0010892"]
["Abnormal circulating phenylalanine concentration","HP:0010893"]
["Abnormal circulating serine family amino acid concentration","HP:0010894"]
["Abnormal circulating glycine concentration","HP:0010895"]
["Hypersarcosinemia","HP:0010896"]
["Hypersarcosinuria","HP:0010897"]
["Abnormal circulating sarcosine concentration","HP:0010898"]
["Abnormal circulating aspartate family amino acid concentration","HP:0010899"]
["Abnormal circulating threonine concentration","HP:0010900"]
["Abnormal circulating methionine concentration","HP:0010901"]
["Abnormal circulating glutamine family amino acid concentration","HP:0010902"]
["Abnormal circulating glutamine concentration","HP:0010903"]
["Abnormal circulating histidine concentration","HP:0010904"]
["obsolete Abnormality of histidine metabolism","HP:0010905"]
["Hyperhistidinemia","HP:0010906"]
["Abnormal circulating proline concentration","HP:0010907"]
["Abnormal circulating lysine concentration","HP:0010908"]
["Abnormal circulating arginine concentration","HP:0010909"]
["Hypervalinemia","HP:0010910"]
["Hyperleucinemia","HP:0010911"]
["Abnormal circulating isoleucine concentration","HP:0010912"]
["Hyperisoleucinemia","HP:0010913"]
["Abnormal circulating valine concentration","HP:0010914"]
["Abnormal circulating pyruvate family amino acid concentration","HP:0010915"]
["Abnormal circulating alanine concentration","HP:0010916"]
["Abnormal circulating tyrosine concentration","HP:0010917"]
["Abnormal circulating cysteine concentration","HP:0010918"]
["Abnormal circulating homocysteine concentration","HP:0010919"]
["Zonular cataract","HP:0010920"]
["Coralliform cataract","HP:0010921"]
["Membranous cataract","HP:0010922"]
["Anterior subcapsular cataract","HP:0010923"]
["Posterior cortical cataract","HP:0010924"]
["Nuclear punctate cataract","HP:0010925"]
["Aculeiform cataract","HP:0010926"]
["Abnormal blood inorganic cation concentration","HP:0010927"]
["obsolete Increased urinary orotic acid concentration","HP:0010928"]
["Abnormal blood cation concentration","HP:0010929"]
["Abnormal blood monovalent inorganic cation concentration","HP:0010930"]
["Abnormal blood sodium concentration","HP:0010931"]
["Abnormal circulating nucleobase concentration","HP:0010932"]
["Hyperxanthinemia","HP:0010933"]
["Xanthinuria","HP:0010934"]
["Abnormality of the upper urinary tract","HP:0010935"]
["Abnormality of the lower urinary tract","HP:0010936"]
["Abnormality of the nasal skeleton","HP:0010937"]
["Abnormality of the external nose","HP:0010938"]
["Abnormality of the nasal bone","HP:0010939"]
["Aplasia/Hypoplasia of the nasal bone","HP:0010940"]
["Aplasia of the nasal bone","HP:0010941"]
["Echogenic intracardiac focus","HP:0010942"]
["Echogenic fetal bowel","HP:0010943"]
["Abnormal renal pelvis morphology","HP:0010944"]
["Fetal pyelectasis","HP:0010945"]
["Dilatation of the renal pelvis","HP:0010946"]
["Abnormality of ductus venosus blood flow","HP:0010947"]
["Abnormality of the fetal cardiovascular system","HP:0010948"]
["Abnormality of umbilical vein blood flow","HP:0010949"]
["Abnormal fourth ventricle morphology","HP:0010950"]
["Abnormal third ventricle morphology","HP:0010951"]
["Mild fetal ventriculomegaly","HP:0010952"]
["Noncommunicating hydrocephalus","HP:0010953"]
["Hypoplastic right heart","HP:0010954"]
["Dilatation of the bladder","HP:0010955"]
["Fetal megacystis","HP:0010956"]
["Congenital posterior urethral valve","HP:0010957"]
["Bilateral renal agenesis","HP:0010958"]
["Congenital cystic adenomatoid malformation of the lung","HP:0010959"]
["Bronchopulmonary sequestration","HP:0010960"]
["Intralobar sequestration","HP:0010961"]
["Extralobar sequestration","HP:0010962"]
["Absence of stomach bubble on fetal sonography","HP:0010963"]
["Abnormal circulating long-chain fatty-acid concentration","HP:0010964"]
["Abnormal circulating phytanic acid concentration","HP:0010965"]
["Abnormal circulating fatty-acid anion concentration","HP:0010966"]
["Abnormal circulating carnitine concentration","HP:0010967"]
["Abnormality of liposaccharide metabolism","HP:0010968"]
["Abnormality of glycolipid metabolism","HP:0010969"]
["Blood group antigen abnormality","HP:0010970"]
["Absence of Lutheran antigen on erythrocytes","HP:0010971"]
["Anemia of inadequate production","HP:0010972"]
["Abnormal myeloid leukocyte morphology","HP:0010974"]
["Abnormal B cell count","HP:0010975"]
["B lymphocytopenia","HP:0010976"]
["Abnormal phagocytosis","HP:0010977"]
["Abnormality of immune system physiology","HP:0010978"]
["Abnormality of lipoprotein cholesterol concentration","HP:0010979"]
["Hyperlipoproteinemia","HP:0010980"]
["Hypolipoproteinemia","HP:0010981"]
["Polygenic inheritance","HP:0010982"]
["Oligogenic inheritance","HP:0010983"]
["Digenic inheritance","HP:0010984"]
["Gonosomal inheritance","HP:0010985"]
["Abnormal cellular immune system morphology","HP:0010987"]
["Abnormality of the extrinsic pathway","HP:0010988"]
["Abnormality of the intrinsic pathway","HP:0010989"]
["Abnormality of the common coagulation pathway","HP:0010990"]
["Abnormal morphology of the abdominal musculature","HP:0010991"]
["Stress urinary incontinence","HP:0010992"]
["Abnormality of the cerebral subcortex","HP:0010993"]
["Abnormal corpus striatum morphology","HP:0010994"]
["Abnormal circulating dicarboxylic acid concentration","HP:0010995"]
["Abnormal circulating monocarboxylic acid cocentration","HP:0010996"]
["Chromosomal breakage induced by ionizing radiation","HP:0010997"]
["Increased susceptibility to spontaneous sister chromatid exchange","HP:0010998"]
["Aplasia of the optic tract","HP:0010999"]
["Aplasia/Hypoplasia of the optic tract","HP:0011000"]
["Increased bone mineral density","HP:0011001"]
["Osteopetrosis","HP:0011002"]
["High myopia","HP:0011003"]
["Abnormal systemic arterial morphology","HP:0011004"]
["Mixed cirrhosis","HP:0011005"]
["Abnormal morphology of the musculature of the neck","HP:0011006"]
["Temporal pattern","HP:0011008"]
["Acute","HP:0011009"]
["Chronic","HP:0011010"]
["Subacute","HP:0011011"]
["Abnormal circulating polysaccharide concentration","HP:0011012"]
["Abnormal circulating carbohydrate concentration","HP:0011013"]
["Abnormal glucose homeostasis","HP:0011014"]
["Abnormal blood glucose concentration","HP:0011015"]
["Abnormality of urine glucose concentration","HP:0011016"]
["Abnormal cellular physiology","HP:0011017"]
["Abnormality of the cell cycle","HP:0011018"]
["Abnormality of chromosome condensation","HP:0011019"]
["Abnormality of mucopolysaccharide metabolism","HP:0011020"]
["Abnormality of circulating enzyme level","HP:0011021"]
["Abnormal circulating unsaturated fatty acid concentration","HP:0011022"]
["Abnormal circulating prostaglandin circulation","HP:0011023"]
["Abnormality of the gastrointestinal tract","HP:0011024"]
["Abnormal cardiovascular system physiology","HP:0011025"]
["Aplasia/Hypoplasia of the vagina","HP:0011026"]
["Abnormal fallopian tube morphology","HP:0011027"]
["Abnormality of blood circulation","HP:0011028"]
["Internal hemorrhage","HP:0011029"]
["Abnormal blood transition element cation concentration","HP:0011030"]
["Abnormality of iron homeostasis","HP:0011031"]
["Abnormality of fluid regulation","HP:0011032"]
["Impairment of fructose metabolism","HP:0011033"]
["Amyloidosis","HP:0011034"]
["Abnormal renal cortex morphology","HP:0011035"]
["Abnormality of renal excretion","HP:0011036"]
["Decreased urine output","HP:0011037"]
["Abnormal renal resorption","HP:0011038"]
["Abnormality of the helix","HP:0011039"]
["Abnormality of the intrahepatic bile duct","HP:0011040"]
["Aplasia/Hypoplasia of the cervical spine","HP:0011041"]
["Abnormal blood potassium concentration","HP:0011042"]
["Abnormality of circulating adrenocorticotropin level","HP:0011043"]
["Abnormal number of permanent teeth","HP:0011044"]
["Agenesis of permanent maxillary central incisor","HP:0011045"]
["Agenesis of primary maxillary central incisor","HP:0011046"]
["Agenesis of primary mandibular central incisor","HP:0011047"]
["Agenesis of permanent mandibular central incisor","HP:0011048"]
["Agenesis of primary maxillary lateral incisor","HP:0011049"]
["Agenesis of permanent maxillary lateral incisor","HP:0011050"]
["Agenesis of premolar","HP:0011051"]
["Agenesis of maxillary premolar","HP:0011052"]
["Agenesis of mandibular premolar","HP:0011053"]
["Agenesis of molar","HP:0011054"]
["Agenesis of permanent molar","HP:0011055"]
["Agenesis of first permanent molar tooth","HP:0011056"]
["Agenesis of second permanent molar","HP:0011057"]
["Generalized periodontitis","HP:0011058"]
["Localized periodontitis","HP:0011059"]
["Dentinogenesis imperfecta limited to primary teeth","HP:0011060"]
["Abnormality of dental structure","HP:0011061"]
["Misalignment of incisors","HP:0011062"]
["Abnormal incisor morphology","HP:0011063"]
["Abnormal number of incisors","HP:0011064"]
["Conical incisor","HP:0011065"]
["Mesiodens","HP:0011067"]
["Odontoma","HP:0011068"]
["Supernumerary tooth","HP:0011069"]
["Abnormal molar morphology","HP:0011070"]
["Abnormality of permanent molar morphology","HP:0011071"]
["Rootless teeth","HP:0011072"]
["Abnormality of dental color","HP:0011073"]
["Localized hypoplasia of dental enamel","HP:0011074"]
["Green teeth","HP:0011075"]
["Abnormality of premolar","HP:0011076"]
["Abnormality of molar","HP:0011077"]
["Abnormality of canine","HP:0011078"]
["Impacted tooth","HP:0011079"]
["Abnormal premolar morphology","HP:0011080"]
["Incisor macrodontia","HP:0011081"]
["Conical primary incisor","HP:0011082"]
["Conical maxillary incisor","HP:0011083"]
["Hypocalcification of dental enamel","HP:0011084"]
["Hypomature dental enamel","HP:0011085"]
["Dentinogenesis imperfecta of primary and permanent teeth","HP:0011086"]
["Talon cusp","HP:0011087"]
["Dens in dente","HP:0011088"]
["Double tooth","HP:0011089"]
["Fused teeth","HP:0011090"]
["Gemination","HP:0011091"]
["Mulberry molar","HP:0011092"]
["Molarization of premolar","HP:0011093"]
["Increased overbite","HP:0011094"]
["Overjet","HP:0011095"]
["Peripheral demyelination","HP:0011096"]
["Epileptic spasm","HP:0011097"]
["Speech apraxia","HP:0011098"]
["Spastic hemiparesis","HP:0011099"]
["Intestinal atresia","HP:0011100"]
["Ileal atresia","HP:0011102"]
["Abnormal left ventricular outflow tract morphology","HP:0011103"]
["Abnormality of blood volume homeostasis","HP:0011104"]
["Hypervolemia","HP:0011105"]
["Hypovolemia","HP:0011106"]
["Recurrent aphthous stomatitis","HP:0011107"]
["Recurrent sinusitis","HP:0011108"]
["Chronic sinusitis","HP:0011109"]
["Recurrent tonsillitis","HP:0011110"]
["Abnormality of immune serum protein physiology","HP:0011111"]
["Abnormality of serum cytokine level","HP:0011112"]
["Abnormality of cytokine secretion","HP:0011113"]
["Defective production of NFKB1-dependent cytokines","HP:0011114"]
["Abnormality of chemokine secretion","HP:0011115"]
["Abnormality of interferon secretion","HP:0011116"]
["Abnormality of interleukin secretion","HP:0011117"]
["Abnormality of tumor necrosis factor secretion","HP:0011118"]
["Abnormality of the nasal dorsum","HP:0011119"]
["Concave nasal ridge","HP:0011120"]
["Abnormality of skin morphology","HP:0011121"]
["Abnormality of skin physiology","HP:0011122"]
["Inflammatory abnormality of the skin","HP:0011123"]
["Abnormal epidermal morphology","HP:0011124"]
["Abnormality of dermal melanosomes","HP:0011125"]
["Nephroptosis","HP:0011126"]
["Perioral eczema","HP:0011127"]
["Acute esophageal necrosis","HP:0011128"]
["Bilateral fetal pyelectasis","HP:0011129"]
["Abnormal renal calyx morphology","HP:0011130"]
["Perianal rash","HP:0011131"]
["Chronic furunculosis","HP:0011132"]
["Increased sensitivity to ionizing radiation","HP:0011133"]
["Low-grade fever","HP:0011134"]
["Aplasia/Hypoplasia of the sweat glands","HP:0011135"]
["Aplasia of the sweat glands","HP:0011136"]
["Non-pruritic urticaria","HP:0011137"]
["Abnormality of skin adnexa morphology","HP:0011138"]
["Gastric duplication","HP:0011139"]
["Gastrointestinal duplication","HP:0011140"]
["Age-related cataract","HP:0011141"]
["Age-related nuclear cataract","HP:0011142"]
["Age-related cortical cataract","HP:0011143"]
["Age-related posterior subcapsular cataract","HP:0011144"]
["Symptomatic seizures","HP:0011145"]
["Dialeptic seizure","HP:0011146"]
["Typical absence seizure","HP:0011147"]
["obsolete Absence seizures with special features","HP:0011148"]
["Absence seizure with eyelid myoclonia","HP:0011149"]
["Myoclonic absence seizure","HP:0011150"]
["Atypical absence status epilepticus","HP:0011151"]
["Early onset absence seizures","HP:0011152"]
["Focal motor seizure","HP:0011153"]
["Focal autonomic seizure","HP:0011154"]
["obsolete Focal autonomic seizures with altered responsiveness","HP:0011155"]
["obsolete Focal autonomic seizures without altered responsiveness","HP:0011156"]
["Focal sensory seizure","HP:0011157"]
["Focal sensory seizure with auditory features","HP:0011158"]
["Focal autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal phenomena","HP:0011159"]
["Focal sensory seizure with gustatory features","HP:0011160"]
["Focal sensory seizure with olfactory features","HP:0011161"]
["obsolete Psychic auras","HP:0011162"]
["Focal sensory seizure with somatosensory features","HP:0011163"]
["obsolete Vegetative auras","HP:0011164"]
["Focal sensory seizure with visual features","HP:0011165"]
["Focal myoclonic seizure","HP:0011166"]
["Focal tonic seizure","HP:0011167"]
["Focal seizure with eyelid myoclonia","HP:0011168"]
["Generalized clonic seizure","HP:0011169"]
["Generalized myoclonic-atonic seizure","HP:0011170"]
["Simple febrile seizure","HP:0011171"]
["Complex febrile seizure","HP:0011172"]
["Focal behavior arrest seizure","HP:0011173"]
["Focal hyperkinetic seizure","HP:0011174"]
["Focal motor seizure with version","HP:0011175"]
["EEG with constitutional variants","HP:0011176"]
["EEG with 4-5/second background activity","HP:0011177"]
["Alpha-EEG","HP:0011178"]
["Beta-EEG","HP:0011179"]
["Partial beta-EEG","HP:0011180"]
["Low voltage EEG","HP:0011181"]
["Interictal epileptiform activity","HP:0011182"]
["EEG with hyperventilation-induced focal epileptiform discharges","HP:0011183"]
["EEG with hyperventilation-induced generalized epileptiform discharges","HP:0011184"]
["EEG with focal epileptiform discharges","HP:0011185"]
["Focal epileptiform discharges with limited propagation to contralateral hemisphere","HP:0011186"]
["Focal EEG discharges with propagation to ipsilateral hemisphere","HP:0011187"]
["Focal EEG discharges with secondary generalization","HP:0011188"]
["Bilateral multifocal epileptiform discharges","HP:0011189"]
["Uni- and bilateral multifocal epileptiform discharges","HP:0011190"]
["Unilateral multifocal epileptiform discharges","HP:0011191"]
["Polymorphic focal epileptiform discharges","HP:0011192"]
["EEG with focal spikes","HP:0011193"]
["EEG with series of focal spikes","HP:0011194"]
["EEG with focal sharp slow waves","HP:0011195"]
["EEG with focal sharp waves","HP:0011196"]
["EEG with focal spike waves","HP:0011197"]
["EEG with generalized epileptiform discharges","HP:0011198"]
["EEG with generalized sharp slow waves","HP:0011199"]
["EEG with generalized polymorphic epileptiform discharges","HP:0011200"]
["EEG with changes in voltage","HP:0011201"]
["EEG with diffuse acceleration","HP:0011202"]
["EEG with abnormally slow frequencies","HP:0011203"]
["EEG with continuous slow activity","HP:0011204"]
["EEG with intermittent slow activity","HP:0011205"]
["EEG with generalized slow activity grade 1","HP:0011206"]
["EEG with generalized slow activity grade 2","HP:0011207"]
["EEG with generalized slow activity grade 3","HP:0011208"]
["EEG with generalized slow activity grade 4","HP:0011209"]
["EEG with occipital slowing","HP:0011210"]
["EEG with photoparoxysmal response grade I","HP:0011211"]
["EEG with photoparoxysmal response grade II","HP:0011212"]
["EEG with photoparoxysmal response grade III","HP:0011213"]
["EEG with photoparoxysmal response grade IV","HP:0011214"]
["Hemihypsarrhythmia","HP:0011215"]
["Abnormal shape of the occiput","HP:0011217"]
["Abnormal shape of the frontal region","HP:0011218"]
["Short face","HP:0011219"]
["Prominent forehead","HP:0011220"]
["Vertical forehead creases","HP:0011221"]
["Depressed glabella","HP:0011222"]
["Metopic depression","HP:0011223"]
["Ablepharon","HP:0011224"]
["Epiblepharon","HP:0011225"]
["Aplasia/Hypoplasia of the eyelid","HP:0011226"]
["Elevated circulating C-reactive protein concentration","HP:0011227"]
["Horizontal eyebrow","HP:0011228"]
["Broad eyebrow","HP:0011229"]
["Laterally extended eyebrow","HP:0011230"]
["Prominent eyelashes","HP:0011231"]
["Infra-orbital fold","HP:0011232"]
["Antihelical shelf","HP:0011233"]
["Absent antihelix","HP:0011234"]
["Additional crus of antihelix","HP:0011235"]
["Angulated antihelix","HP:0011236"]
["Broad inferior crus of antihelix","HP:0011237"]
["Prominent inferior crus of antihelix","HP:0011238"]
["Underdeveloped inferior crus of antihelix","HP:0011239"]
["Prominent stem of antihelix","HP:0011240"]
["Serpiginous stem of antihelix","HP:0011241"]
["Underdeveloped stem of antihelix","HP:0011242"]
["Abnormality of inferior crus of antihelix","HP:0011243"]
["Abnormality of stem of antihelix","HP:0011244"]
["Abnormality of superior crus of antihelix","HP:0011245"]
["Underdeveloped superior crus of antihelix","HP:0011246"]
["Prominent superior crus of antihelix","HP:0011247"]
["Everted antitragus","HP:0011248"]
["Absent antitragus","HP:0011249"]
["Bifid antitragus","HP:0011250"]
["Underdeveloped antitragus","HP:0011251"]
["Cryptotia","HP:0011252"]
["Type I cryptotia","HP:0011253"]
["Type II cryptotia","HP:0011254"]
["Absent crus of helix","HP:0011255"]
["Crus of helix connected to antihelix","HP:0011256"]
["Serpiginous crus of helix","HP:0011257"]
["Tragal bridge of crus of helix","HP:0011258"]
["Expanded terminal portion of crus of helix","HP:0011259"]
["Darwin notch of helix","HP:0011260"]
["Darwin tubercle of helix","HP:0011261"]
["Crimped helix","HP:0011262"]
["Forward facing earlobe","HP:0011263"]
["Discontinuous ascending root of helix","HP:0011264"]
["Cleft earlobe","HP:0011265"]
["Microtia, first degree","HP:0011266"]
["Microtia, third degree","HP:0011267"]
["Absent tragus","HP:0011268"]
["Bifid tragus","HP:0011269"]
["Duplicated tragus","HP:0011270"]
["Prominent tragus","HP:0011271"]
["Underdeveloped tragus","HP:0011272"]
["Anisocytosis","HP:0011273"]
["Recurrent mycobacterial infections","HP:0011274"]
["Recurrent mycobacterium avium complex infections","HP:0011275"]
["Vascular skin abnormality","HP:0011276"]
["Abnormality of the urinary system physiology","HP:0011277"]
["Intrapulmonary sequestration","HP:0011278"]
["Abnormality of urine bicarbonate concentration","HP:0011279"]
["Abnormality of urine calcium concentration","HP:0011280"]
["Abnormality of urine catecholamine concentration","HP:0011281"]
["Abnormality of hindbrain morphology","HP:0011282"]
["Abnormal metencephalon morphology","HP:0011283"]
["Short-segment aganglionic megacolon","HP:0011284"]
["Long-segment aganglionic megacolon","HP:0011285"]
["Total colonic aganglionosis","HP:0011286"]
["EEG with occipital sharp slow waves","HP:0011287"]
["EEG with parietal sharp slow waves","HP:0011288"]
["EEG with temporal sharp slow waves","HP:0011289"]
["EEG with frontal sharp slow waves","HP:0011290"]
["EEG with central sharp slow waves","HP:0011291"]
["EEG with occipital sharp waves","HP:0011292"]
["EEG with central sharp waves","HP:0011293"]
["EEG with frontal sharp waves","HP:0011294"]
["EEG with parietal sharp waves","HP:0011295"]
["EEG with temporal sharp waves","HP:0011296"]
["Abnormal digit morphology","HP:0011297"]
["Prominent digit pad","HP:0011298"]
["Partial absence of finger","HP:0011299"]
["Broad fingertip","HP:0011300"]
["Absent foot","HP:0011301"]
["Long palm","HP:0011302"]
["Convex contour of sole","HP:0011303"]
["Broad thumb","HP:0011304"]
["Partial absence of toe","HP:0011305"]
["Splayed toes","HP:0011307"]
["Slender toe","HP:0011308"]
["Tapered toe","HP:0011309"]
["Bridged palmar crease","HP:0011310"]
["Sydney crease","HP:0011311"]
["Fused nails","HP:0011312"]
["Narrow nail","HP:0011313"]
["Abnormality of long bone morphology","HP:0011314"]
["Unicoronal synostosis","HP:0011315"]
["Left unicoronal synostosis","HP:0011316"]
["Right unicoronal synostosis","HP:0011317"]
["Bicoronal synostosis","HP:0011318"]
["Bilambdoid synostosis","HP:0011319"]
["Unilambdoid synostosis","HP:0011320"]
["Left unilambdoid synostosis","HP:0011321"]
["Right unilambdoid synostosis","HP:0011322"]
["Cleft of chin","HP:0011323"]
["Multiple suture craniosynostosis","HP:0011324"]
["Pansynostosis","HP:0011325"]
["Anterior plagiocephaly","HP:0011326"]
["Posterior plagiocephaly","HP:0011327"]
["Abnormality of fontanelles","HP:0011328"]
["Abnormality of cranial sutures","HP:0011329"]
["Metopic synostosis","HP:0011330"]
["Hemifacial atrophy","HP:0011331"]
["Hemifacial hypoplasia","HP:0011332"]
["Asymmetric crying face","HP:0011333"]
["Facial shape deformation","HP:0011334"]
["Frontal hirsutism","HP:0011335"]
["Bitemporal forceps marks","HP:0011336"]
["Abnormality of mouth size","HP:0011337"]
["Abnormality of mouth shape","HP:0011338"]
["Abnormality of upper lip vermillion","HP:0011339"]
["Incomplete cleft of the upper lip","HP:0011340"]
["Long upper lip","HP:0011341"]
["Mild global developmental delay","HP:0011342"]
["Moderate global developmental delay","HP:0011343"]
["Severe global developmental delay","HP:0011344"]
["Moderate expressive language delay","HP:0011345"]
["Mild expressive language delay","HP:0011346"]
["Abnormality of ocular abduction","HP:0011347"]
["Abnormal sixth cranial nerve morphology","HP:0011348"]
["obsolete Abducens palsy","HP:0011349"]
["Mild receptive language delay","HP:0011350"]
["Moderate receptive language delay","HP:0011351"]
["Severe receptive language delay","HP:0011352"]
["Arterial intimal fibrosis","HP:0011353"]
["Generalized abnormality of skin","HP:0011354"]
["Localized skin lesion","HP:0011355"]
["Regional abnormality of skin","HP:0011356"]
["obsolete Abnormality of hair density","HP:0011357"]
["Generalized hypopigmentation of hair","HP:0011358"]
["Dry hair","HP:0011359"]
["Acquired abnormal hair pattern","HP:0011360"]
["Congenital abnormal hair pattern","HP:0011361"]
["Abnormal hair quantity","HP:0011362"]
["Abnormality of hair growth rate","HP:0011363"]
["White hair","HP:0011364"]
["Patchy hypopigmentation of hair","HP:0011365"]
["Yellow nails","HP:0011367"]
["Epidermal thickening","HP:0011368"]
["Mongolian blue spot","HP:0011369"]
["Recurrent cutaneous fungal infections","HP:0011370"]
["Recurrent viral skin infections","HP:0011371"]
["Aplasia of the inner ear","HP:0011372"]
["Incomplete partition of the cochlea","HP:0011373"]
["Incomplete partition of the cochlea type I","HP:0011374"]
["Cochlear aplasia","HP:0011375"]
["Morphological abnormality of the vestibule of the inner ear","HP:0011376"]
["Aplasia of the vestibule","HP:0011377"]
["Hypoplasia of the vestibule of the inner ear","HP:0011378"]
["Dilated vestibule of the inner ear","HP:0011379"]
["Morphological abnormality of the semicircular canal","HP:0011380"]
["Aplasia of the semicircular canal","HP:0011381"]
["Hypoplasia of the semicircular canal","HP:0011382"]
["Enlarged semicircular canal","HP:0011383"]
["Abnormality of the internal auditory canal","HP:0011384"]
["Absent internal auditory canal","HP:0011385"]
["Narrow internal auditory canal","HP:0011386"]
["Enlarged vestibular aqueduct","HP:0011387"]
["Enlarged cochlear aqueduct","HP:0011388"]
["Functional abnormality of the inner ear","HP:0011389"]
["Morphological abnormality of the inner ear","HP:0011390"]
["Morphological abnormality of the nerves of the inner ear","HP:0011391"]
["Abnormality of the vestibular nerve","HP:0011392"]
["Aplasia of the vestibular nerve.","HP:0011393"]
["Hypoplasia of the vestibular nerve","HP:0011394"]
["Aplasia/Hypoplasia of the cochlea","HP:0011395"]
["Abnormality of the cochlear nerve","HP:0011396"]
["Abnormality of the dorsal column of the spinal cord","HP:0011397"]
["obsolete Central hypotonia","HP:0011398"]
["Tibialis atrophy","HP:0011399"]
["Abnormal CNS myelination","HP:0011400"]
["Delayed peripheral myelination","HP:0011401"]
["Demyelinating sensory neuropathy","HP:0011402"]
["Abnormal umbilical cord blood vessels","HP:0011403"]
["Lethal short-trunk short stature","HP:0011404"]
["Childhood onset short-limb short stature","HP:0011405"]
["Infancy onset short-trunk short stature","HP:0011406"]
["Proportionate tall stature","HP:0011407"]
["Moderate intrauterine growth retardation","HP:0011408"]
["Abnormal placental membrane morphology","HP:0011409"]
["Caesarian section","HP:0011410"]
["Forceps delivery","HP:0011411"]
["Ventouse delivery","HP:0011412"]
["Shoulder dystocia","HP:0011413"]
["Hydropic placenta","HP:0011414"]
["Calcified placenta","HP:0011415"]
["Placental infarction","HP:0011416"]
["Long umbilical cord","HP:0011417"]
["Abnormal insertion of umbilical cord","HP:0011418"]
["Placental abruption","HP:0011419"]
["Age of death","HP:0011420"]
["Death in adolescence","HP:0011421"]
["Abnormal blood chloride concentration","HP:0011422"]
["Hyperchloremia","HP:0011423"]
["Increased serum zinc","HP:0011424"]
["Fetal ultrasound soft marker","HP:0011425"]
["Fetal choroid plexus cysts","HP:0011426"]
["Enlarged fetal cisterna magna","HP:0011427"]
["Short fetal femur length","HP:0011428"]
["Short fetal humerus length","HP:0011429"]
["Hypoplasia of fetal nasal bone","HP:0011430"]
["Fetal fifth finger clinodactyly","HP:0011431"]
["High maternal serum alpha-fetoprotein","HP:0011432"]
["High maternal serum chorionic gonadotropin","HP:0011433"]
["Low maternal serum chorionic gonadotropin","HP:0011434"]
["Low maternal serum PAPP-A","HP:0011435"]
["Abnormal maternal serum screening","HP:0011436"]
["Maternal autoimmune disease","HP:0011437"]
["Maternal teratogenic exposure","HP:0011438"]
["Anesthetic-induced rhabdomylosis","HP:0011439"]
["Alcohol-induced rhabdomyolysis","HP:0011440"]
["Abnormality of the medulla oblongata","HP:0011441"]
["Abnormal central motor function","HP:0011442"]
["Abnormality of coordination","HP:0011443"]
["Decorticate rigidity","HP:0011444"]
["Athetoid cerebral palsy","HP:0011445"]
["Abnormality of higher mental function","HP:0011446"]
["Hyposegmentation of neutrophil nuclei","HP:0011447"]
["Ankle clonus","HP:0011448"]
["Knee clonus","HP:0011449"]
["Unusual CNS infection","HP:0011450"]
["Primary microcephaly","HP:0011451"]
["Functional abnormality of the middle ear","HP:0011452"]
["Abnormality of the incus","HP:0011453"]
["Abnormality of the malleus","HP:0011454"]
["Absent malleus","HP:0011455"]
["Absent stapes","HP:0011456"]
["Loss of eyelashes","HP:0011457"]
["Abdominal symptom","HP:0011458"]
["Esophageal carcinoma","HP:0011459"]
["Embryonal onset","HP:0011460"]
["Fetal onset","HP:0011461"]
["Young adult onset","HP:0011462"]
["Childhood onset","HP:0011463"]
["Aganglionosis of the small intestine","HP:0011464"]
["Duodenal aganglionosis","HP:0011465"]
["Aplasia/Hypoplasia of the gallbladder","HP:0011466"]
["Absent gallbladder","HP:0011467"]
["Facial tics","HP:0011468"]
["Nasal regurgitation","HP:0011469"]
["Nasogastric tube feeding in infancy","HP:0011470"]
["Gastrostomy tube feeding in infancy","HP:0011471"]
["Abnormality of small intestinal villus morphology","HP:0011472"]
["Villous atrophy","HP:0011473"]
["Childhood onset sensorineural hearing impairment","HP:0011474"]
["Persistent stapedial artery","HP:0011475"]
["Profound sensorineural hearing impairment","HP:0011476"]
["Upbeat nystagmus","HP:0011477"]
["True anophthalmia","HP:0011478"]
["Abnormal lacrimal punctum morphology","HP:0011479"]
["Unilateral microphthalmos","HP:0011480"]
["Abnormal lacrimal duct morphology","HP:0011481"]
["Abnormal lacrimal gland morphology","HP:0011482"]
["Anterior synechiae of the anterior chamber","HP:0011483"]
["Posterior synechiae of the anterior chamber","HP:0011484"]
["Corneolenticular adhesion","HP:0011485"]
["Abnormality of corneal thickness","HP:0011486"]
["Increased corneal thickness","HP:0011487"]
["Abnormal corneal endothelium morphology","HP:0011488"]
["Abnormal migration of corneal endothelium","HP:0011489"]
["Abnormal Descemet membrane morphology","HP:0011490"]
["Reduced number of corneal endothelial cells","HP:0011491"]
["Abnormality of corneal stroma","HP:0011492"]
["Central opacification of the cornea","HP:0011493"]
["Generalized opacification of the cornea","HP:0011494"]
["Abnormal corneal epithelium morphology","HP:0011495"]
["Corneal neovascularization","HP:0011496"]
["Iris neovascularization","HP:0011497"]
["obsolete Partial aniridia","HP:0011498"]
["Mydriasis","HP:0011499"]
["Polycoria","HP:0011500"]
["Anterior lenticonus","HP:0011501"]
["Posterior lenticonus","HP:0011502"]
["Aplasia of the fovea","HP:0011503"]
["Bull's eye maculopathy","HP:0011504"]
["Cystoid macular edema","HP:0011505"]
["Choroidal neovascularization","HP:0011506"]
["Macular flecks","HP:0011507"]
["Macular hole","HP:0011508"]
["Macular hyperpigmentation","HP:0011509"]
["Drusen","HP:0011510"]
["Macular schisis","HP:0011511"]
["Hyperpigmentation of the fundus","HP:0011512"]
["Retinal cavernous angioma","HP:0011513"]
["Abnormality of binocular vision","HP:0011514"]
["Abnormal stereopsis","HP:0011515"]
["Achromatopsia","HP:0011516"]
["Cone monochromacy","HP:0011517"]
["Dichromacy","HP:0011518"]
["Anomalous trichromacy","HP:0011519"]
["Deuteranomaly","HP:0011520"]
["Deuteranopia","HP:0011521"]
["Protanopia","HP:0011522"]
["Iris cyst","HP:0011523"]
["Iris melanoma","HP:0011524"]
["Iris nevus","HP:0011525"]
["Abnormality of lens shape","HP:0011526"]
["Lentiglobus","HP:0011527"]
["Solitary congenital hypertrophy of retinal pigment epithelium","HP:0011528"]
["Multiple bilateral congenital hypertrophy of retinal pigment epithelium","HP:0011529"]
["Retinal hole","HP:0011530"]
["Vitritis","HP:0011531"]
["Subretinal exudate","HP:0011532"]
["Snowflake vitreoretinal degeneration","HP:0011533"]
["Abnormal spatial orientation of the cardiac segments","HP:0011534"]
["Abnormal atrial arrangement","HP:0011535"]
["Right atrial isomerism","HP:0011536"]
["Left atrial isomerism","HP:0011537"]
["Atrial situs inversus","HP:0011538"]
["Atrial situs ambiguous","HP:0011539"]
["Congenitally corrected transposition of the great arteries","HP:0011540"]
["Criss-cross atrioventricular valves","HP:0011541"]
["Criss-cross atrioventricular valves with superior-inferior ventricles","HP:0011542"]
["Superior-inferior ventricles without criss-cross atrioventricular valves","HP:0011543"]
["L-looping of the right ventricle","HP:0011544"]
["Abnormal connection of the cardiac segments","HP:0011545"]
["Abnormal atrioventricular connection","HP:0011546"]
["Absent left sided atrioventricular connection","HP:0011547"]
["Absent right sided atrioventricular connection","HP:0011548"]
["Univentricular heart with absent left sided atrioventricular connection","HP:0011549"]
["Biventricular heart with straddling right sided atrioventricular valve and absent left sided atrioventricular connection","HP:0011550"]
["Right sided atrium to left ventricle and absent left sided atrioventricular connection","HP:0011551"]
["Ambiguous atrioventricular connection","HP:0011552"]
["Discordant atrioventricular connection","HP:0011553"]
["Double inlet atrioventricular connection","HP:0011554"]
["Double inlet left ventricle","HP:0011555"]
["Double inlet right ventricle","HP:0011556"]
["Double inlet to single ventricle of indeterminate morphology","HP:0011557"]
["Double inlet to single ventricle with common atrioventricular orifice","HP:0011558"]
["Double inlet to single ventricle with two atrioventricular valves","HP:0011559"]
["Mitral atresia","HP:0011560"]
["Overriding atrioventricular valve","HP:0011561"]
["Straddling atrioventricular valve","HP:0011562"]
["Abnormal ventriculoarterial connection","HP:0011563"]
["Mitral valve arcade","HP:0011564"]
["Common atrium","HP:0011565"]
["Cor triatriatum dexter","HP:0011566"]
["Sinus venosus atrial septal defect","HP:0011567"]
["Double orifice mitral valve","HP:0011568"]
["Cleft anterior mitral valve leaflet","HP:0011569"]
["Congenital mitral stenosis","HP:0011570"]
["Parachute mitral valve","HP:0011571"]
["Supramitral ring","HP:0011572"]
["Hypoplastic tricuspid valve","HP:0011573"]
["Imperforate atrioventricular valve","HP:0011574"]
["Imperforate tricuspid valve","HP:0011575"]
["Intermediate atrioventricular canal defect","HP:0011576"]
["Partial atrioventricular canal defect","HP:0011577"]
["Transitional atrioventricular canal defect","HP:0011578"]
["Unbalanced atrioventricular canal defect","HP:0011579"]
["Short chordae tendineae of the mitral valve","HP:0011580"]
["Double outlet left ventricle","HP:0011581"]
["Abdominal ectopia cordis","HP:0011582"]
["Cervical ectopia cordis","HP:0011583"]
["Thoracocervical ectopia cordis","HP:0011584"]
["Thoracic ectopia cordis","HP:0011585"]
["Thoracoabdominal ectopia cordis","HP:0011586"]
["Abnormal branching pattern of the aortic arch","HP:0011587"]
["Cervical aortic arch","HP:0011588"]
["Common origin of the right brachiocephalic artery and left common carotid artery","HP:0011589"]
["Double aortic arch","HP:0011590"]
["Left aortic arch with cervical origin of the right subclavian artery","HP:0011591"]
["Left aortic arch with isolated subclavian artery","HP:0011592"]
["Left aortic arch with retroesophageal diverticulum of Kommerell","HP:0011593"]
["Right aortic arch with retroesophageal diverticulum of Kommerell","HP:0011594"]
["Left aortic arch with retroesophageal right subclavian artery","HP:0011595"]
["Left aortic arch with right descending aorta and right ductus arteriosus","HP:0011596"]
["Right aortic arch with left descending aorta and left ductus arteriosus","HP:0011597"]
["Right aortic arch with retroesophageal left subclavian artery","HP:0011598"]
["Mesocardia","HP:0011599"]
["Abnormal direction of ventricular apex","HP:0011600"]
["Rightward direction of ventricular apex","HP:0011601"]
["Midline direction of ventricular apex","HP:0011602"]
["Congenital malformation of the great arteries","HP:0011603"]
["Aortopulmonary window","HP:0011604"]
["Congenitally corrected transposition of the great arteries with ventricular septal defect","HP:0011605"]
["obsolete Transposition of the great arteries with intact ventricular septum","HP:0011606"]
["obsolete Transposition of the great arteries with ventricular septal defect","HP:0011607"]
["Type II truncus arteriosus","HP:0011608"]
["Type III truncus arteriosus","HP:0011609"]
["Type IV truncus arteriosus","HP:0011610"]
["Interrupted aortic arch","HP:0011611"]
["Interrupted aortic arch type A","HP:0011612"]
["Interrupted aortic arch type B","HP:0011613"]
["Interrupted aortic arch type C","HP:0011614"]
["Abnormal pulmonary situs morphology","HP:0011615"]
["Pulmonary situs inversus","HP:0011616"]
["Pulmonary situs ambiguus","HP:0011617"]
["Pulmonary situs ambiguus with bilateral morphologic right lungs","HP:0011618"]
["Pulmonary situs ambiguus with bilateral morphologic left lungs","HP:0011619"]
["Abnormality of abdominal situs","HP:0011620"]
["Gerbode ventricular septal defect","HP:0011621"]
["Inlet ventricular septal defect","HP:0011622"]
["Muscular ventricular septal defect","HP:0011623"]
["Apical muscular ventricular septal defect","HP:0011624"]
["Multiple muscular ventricular septal defects","HP:0011625"]
["Scimitar anomaly","HP:0011626"]
["Aorto-ventricular tunnel","HP:0011627"]
["Congenital defect of the pericardium","HP:0011628"]
["Total absence of the pericardium","HP:0011629"]
["Complete diaphragmatic absence of pericardium","HP:0011630"]
["Complete right sided absence of pericardium","HP:0011631"]
["Partial right sided absence of pericardium","HP:0011632"]
["Complete left sided absence of pericardium","HP:0011633"]
["Partial left sided absence of pericardium","HP:0011634"]
["Partial diaphragmatic absence of pericardium","HP:0011635"]
["Abnormal coronary artery origin","HP:0011636"]
["Anomalous origin of coronary artery from the pulmonary artery","HP:0011637"]
["Anomalous origin of left coronary artery from the pulmonary artery","HP:0011638"]
["Anomalous origin of right coronary artery from the pulmonary artery","HP:0011639"]
["Single coronary artery origin","HP:0011640"]
["Coronary artery fistula","HP:0011641"]
["Abnormal coronary sinus morphology","HP:0011642"]
["Coronary sinus atrial septal defect","HP:0011643"]
["Coronary sinus diverticulum","HP:0011644"]
["Dilatation of the sinus of Valsalva","HP:0011645"]
["Juxtaductal coarctation of the aorta","HP:0011646"]
["Postductal coarctation of the aorta","HP:0011647"]
["Patent ductus arteriosus after birth at term","HP:0011648"]
["Patent ductus arteriosus after premature birth","HP:0011649"]
["Bilateral ductus arteriosus","HP:0011650"]
["Double outlet right ventricle with doubly committed ventricular septal defect and pulmonary stenosis","HP:0011651"]
["Double outlet right ventricle with doubly committed ventricular septal defect without pulmonary stenosis","HP:0011652"]
["Double outlet right ventricle with non-committed ventricular septal defect and pulmonary stenosis","HP:0011653"]
["Double outlet right ventricle with non-committed ventricular septal defect without pulmonary stenosis","HP:0011654"]
["Double outlet right ventricle with subaortic ventricular septal defect and pulmonary stenosis","HP:0011655"]
["Double outlet right ventricle with subaortic ventricular septal defect without pulmonary stenosis","HP:0011656"]
["Double outlet right ventricle with subpulmonary ventricular septal defect and pulmonary stenosis","HP:0011657"]
["Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis","HP:0011658"]
["Tetralogy of Fallot with absent pulmonary valve","HP:0011659"]
["Anomalous origin of one pulmonary artery from ascending aorta","HP:0011660"]
["Anomalous origin of left pulmonary artery from ascending aorta","HP:0011661"]
["Tricuspid atresia","HP:0011662"]
["Right ventricular cardiomyopathy","HP:0011663"]
["Left ventricular noncompaction cardiomyopathy","HP:0011664"]
["Takotsubo cardiomyopathy","HP:0011665"]
["Absent right superior vena cava","HP:0011666"]
["Bilateral superior vena cava with bridging vein","HP:0011667"]
["Bilateral superior vena cava with no bridging vein","HP:0011668"]
["Left superior vena cava draining directly to the left atrium","HP:0011669"]
["Left superior vena cava draining to coronary sinus","HP:0011670"]
["Interrupted inferior vena cava with azygous continuation","HP:0011671"]
["Cardiac myxoma","HP:0011672"]
["Cardiac hemangioma","HP:0011673"]
["Cardiac teratoma","HP:0011674"]
["Arrhythmia","HP:0011675"]
["Tetralogy of Fallot with absent subarterial conus","HP:0011676"]
["Tetralogy of Fallot with atrioventricular canal defect","HP:0011677"]
["Tetralogy of Fallot with pulmonary atresia and major aortopulmonary collateral arteries","HP:0011678"]
["Tetralogy of Fallot with pulmonary stenosis","HP:0011679"]
["Single ventricle of indeterminate morphology","HP:0011680"]
["Subarterial ventricular septal defect","HP:0011681"]
["Perimembranous ventricular septal defect","HP:0011682"]
["Restrictive ventricular septal defect","HP:0011683"]
["Non-restrictive ventricular septal defect","HP:0011684"]
["Infra-aortic superior vena cava","HP:0011685"]
["Abnormal coronary artery course","HP:0011686"]
["AV nodal tachycardia","HP:0011687"]
["Supraventricular tachycardia with an accessory connection mediated pathway","HP:0011688"]
["Supraventricular tachycardia with a concealed accessory connection","HP:0011689"]
["Permanent junctional reciprocating tachycardia","HP:0011690"]
["Supraventricular tachycardia with a concealed accessory pathway on the left free wall","HP:0011691"]
["Supraventricular tachycardia with a concealed accessory pathway on the right free wall","HP:0011692"]
["Supraventricular tachycardia with a concealed accessory pathway on the septum","HP:0011693"]
["Supraventricular tachycardia with a manifest accessory pathway","HP:0011694"]
["Cerebellar hemorrhage","HP:0011695"]
["Supraventricular tachycardia with a manifest accessory pathway on the left free wall","HP:0011696"]
["Supraventricular tachycardia with a manifest accessory pathway on the right free wall","HP:0011697"]
["Supraventricular tachycardia with a manifest accessory pathway on the septum","HP:0011698"]
["Atrial reentry tachycardia","HP:0011699"]
["Automatic atrial tachycardia","HP:0011700"]
["Multifocal atrial tachycardia","HP:0011701"]
["Abnormal electrophysiology of sinoatrial node origin","HP:0011702"]
["Sinus tachycardia","HP:0011703"]
["Sick sinus syndrome","HP:0011704"]
["First degree atrioventricular block","HP:0011705"]
["Second degree atrioventricular block","HP:0011706"]
["Mobitz I atrioventricular block","HP:0011707"]
["Mobitz II atrioventricular block","HP:0011708"]
["Atrioventricular dissociation","HP:0011709"]
["Bundle branch block","HP:0011710"]
["Left anterior fascicular block","HP:0011711"]
["Right bundle branch block","HP:0011712"]
["Left bundle branch block","HP:0011713"]
["Libman-Sacks lesions","HP:0011714"]
["Trifascicular block","HP:0011715"]
["Junctional ectopic tachycardia","HP:0011716"]
["Atrioventricular reentrant tachycardia","HP:0011717"]
["Abnormality of the pulmonary veins","HP:0011718"]
["Supracardiac total anomalous pulmonary venous connection","HP:0011719"]
["Cardiac total anomalous pulmonary venous connection","HP:0011720"]
["Infracardiac total anomalous pulmonary venous connection","HP:0011721"]
["Mixed total anomalous pulmonary venous connection","HP:0011722"]
["Congenital malformation of the right heart","HP:0011723"]
["Uhl's anomaly","HP:0011724"]
["Chaotic multifocal atrial tachycardia","HP:0011725"]
["Persistent fetal circulation","HP:0011726"]
["Peroneal muscle weakness","HP:0011727"]
["Elbow clonus","HP:0011728"]
["Abnormality of joint mobility","HP:0011729"]
["Abnormal central sensory function","HP:0011730"]
["Abnormality of circulating cortisol level","HP:0011731"]
["Abnormality of adrenal morphology","HP:0011732"]
["Abnormality of adrenal physiology","HP:0011733"]
["Central adrenal insufficiency","HP:0011734"]
["Adrenocorticotropin deficient adrenal insufficiency","HP:0011735"]
["Primary hyperaldosteronism","HP:0011736"]
["Corticotropin-releasing hormone deficient adrenal insufficiency","HP:0011737"]
["Corticotropin-releasing hormone receptor defect","HP:0011738"]
["Dexamethasone-suppressible primary hyperaldosteronism","HP:0011739"]
["Glucocortocoid-insensitive primary hyperaldosteronism","HP:0011740"]
["Secondary hyperaldosteronism","HP:0011741"]
["Ectopic adrenal gland","HP:0011742"]
["Adrenal gland agenesis","HP:0011743"]
["Secondary hypercortisolism","HP:0011744"]
["Non-secretory adrenocortical adenoma","HP:0011745"]
["Secretory adrenocortical adenoma","HP:0011746"]
["Abnormality of the anterior pituitary","HP:0011747"]
["Adrenocorticotropic hormone deficiency","HP:0011748"]
["Adrenocorticotropic hormone excess","HP:0011749"]
["Neoplasm of the anterior pituitary","HP:0011750"]
["Abnormality of the posterior pituitary","HP:0011751"]
["Neoplasm of the posterior pituitary","HP:0011752"]
["Posterior pituitary dysgenesis","HP:0011753"]
["Pituicytoma","HP:0011754"]
["Ectopic posterior pituitary","HP:0011755"]
["Posterior pituitary agenesis","HP:0011756"]
["Posterior pituitary hypoplasia","HP:0011757"]
["Pituitary acidophilic stem cell adenoma","HP:0011758"]
["Pituitary gonadotropic cell adenoma","HP:0011759"]
["Pituitary growth hormone cell adenoma","HP:0011760"]
["Pituitary null cell adenoma","HP:0011761"]
["Pituitary thyrotropic cell adenoma","HP:0011762"]
["Pituitary carcinoma","HP:0011763"]
["Pituitary spindle cell oncocytoma","HP:0011764"]
["obsolete Ectopic anterior pituitary","HP:0011765"]
["Abnormality of the parathyroid morphology","HP:0011766"]
["Abnormality of the parathyroid physiology","HP:0011767"]
["Parathyroid dysgenesis","HP:0011768"]
["Ectopic parathyroid","HP:0011769"]
["Tertiary hyperparathyroidism","HP:0011770"]
["Autoimmune hypoparathyroidism","HP:0011771"]
["Abnormal thyroid morphology","HP:0011772"]
["Uninodular goiter","HP:0011773"]
["Thyroid follicular adenoma","HP:0011774"]
["Thyroid macrofollicular adenoma","HP:0011775"]
["Thyroid microfollicular adenoma","HP:0011776"]
["Thyroid papillary adenoma","HP:0011777"]
["Thyroid atypical adenoma","HP:0011778"]
["Anaplastic thyroid carcinoma","HP:0011779"]
["Thyroid hemiagenesis","HP:0011780"]
["Thyroid C cell hyperplasia","HP:0011781"]
["Thyroid crisis","HP:0011782"]
["Thyrotoxicosis from ectopic thyroid tissue","HP:0011783"]
["Thyrotoxicosis with diffuse goiter","HP:0011784"]
["Thyrotoxicosis with toxic multinodular goiter","HP:0011785"]
["Thyrotoxicosis with toxic single thyroid nodule","HP:0011786"]
["Central hypothyroidism","HP:0011787"]
["Increased circulating free T3","HP:0011788"]
["Impaired sensitivity to thyroid stimulating hormone","HP:0011789"]
["Activating thyroid-stimulating hormone receptor defect","HP:0011790"]
["Inactivating thyroid-stimulating hormone receptor defect","HP:0011791"]
["Neoplasm by histology","HP:0011792"]
["Neoplasm by anatomical site","HP:0011793"]
["Embryonal renal neoplasm","HP:0011794"]
["Intralobar nephroblastomatosis","HP:0011795"]
["Perilobar nephroblastomatosis","HP:0011796"]
["Papillary renal cell carcinoma type 1","HP:0011797"]
["Renal oncocytoma","HP:0011798"]
["Abnormality of facial soft tissue","HP:0011799"]
["Midface retrusion","HP:0011800"]
["Enlargement of parotid gland","HP:0011801"]
["Hamartoma of tongue","HP:0011802"]
["Bifid nose","HP:0011803"]
["Abnormal muscle physiology","HP:0011804"]
["Abnormal skeletal muscle morphology","HP:0011805"]
["Type 1 muscle fiber atrophy","HP:0011807"]
["Decreased patellar reflex","HP:0011808"]
["Paradoxical myotonia","HP:0011809"]
["Impaired two-point discrimination","HP:0011810"]
["Impaired touch localization","HP:0011811"]
["Agraphesthesia","HP:0011812"]
["Increased cerebral lipofuscin","HP:0011813"]
["Increased urinary hypoxanthine","HP:0011814"]
["Cephalocele","HP:0011815"]
["Parietal encephalocele","HP:0011816"]
["Basal encephalocele","HP:0011817"]
["Nasofrontal encephalocele","HP:0011818"]
["Submucous cleft soft palate","HP:0011819"]
["Membranous choanal atresia","HP:0011820"]
["Abnormality of facial skeleton","HP:0011821"]
["Broad chin","HP:0011822"]
["Chin with horizontal crease","HP:0011823"]
["Chin with H-shaped crease","HP:0011824"]
["Tented philtrum","HP:0011825"]
["Philtrum with midline raphe","HP:0011826"]
["Malaligned philtral ridges","HP:0011827"]
["Midline sinus of philtrum","HP:0011828"]
["Narrow philtrum","HP:0011829"]
["Abnormal oral mucosa morphology","HP:0011830"]
["Deviated nasal tip","HP:0011831"]
["Narrow nasal tip","HP:0011832"]
["Overhanging nasal tip","HP:0011833"]
["Moyamoya phenomenon","HP:0011834"]
["Absent scaphoid","HP:0011835"]
["Delayed talus ossification","HP:0011836"]
["Partial IgA deficiency","HP:0011837"]
["Sclerodactyly","HP:0011838"]
["Abnormal T cell count","HP:0011839"]
["Abnormality of T cell physiology","HP:0011840"]
["Ventricular flutter","HP:0011841"]
["Abnormality of skeletal morphology","HP:0011842"]
["Abnormality of musculoskeletal physiology","HP:0011843"]
["Abnormal appendicular skeleton morphology","HP:0011844"]
["Short second metatarsal","HP:0011845"]
["Osteoblastoma","HP:0011846"]
["Giant cell tumor of bone","HP:0011847"]
["Abdominal colic","HP:0011848"]
["Abnormal bone ossification","HP:0011849"]
["Parotitis","HP:0011850"]
["Hemopericardium","HP:0011851"]
["Chylopericardium","HP:0011852"]
["Serous pericardial effusion","HP:0011853"]
["Hemoperitoneum","HP:0011854"]
["Pharyngeal edema","HP:0011855"]
["Pica","HP:0011856"]
["Plasmacytoma","HP:0011857"]
["Reduced factor IX activity","HP:0011858"]
["Punctate keratitis","HP:0011859"]
["Metaphyseal dappling","HP:0011860"]
["Bilateral trilobed lungs","HP:0011861"]
["Abnormal bone collagen fibril morphology","HP:0011862"]
["Abnormal sternal ossification","HP:0011863"]
["Elevated plasma pyrophosphate","HP:0011864"]
["Abnormal iliac wing morphology","HP:0011867"]
["Sciatica","HP:0011868"]
["Abnormal platelet function","HP:0011869"]
["Impaired arachidonic acid-induced platelet aggregation","HP:0011870"]
["Impaired ristocetin-induced platelet aggregation","HP:0011871"]
["Impaired thrombin-induced platelet aggregation","HP:0011872"]
["Abnormal platelet count","HP:0011873"]
["Heparin-induced thrombocytopenia","HP:0011874"]
["Abnormal platelet morphology","HP:0011875"]
["Abnormal platelet volume","HP:0011876"]
["Increased mean platelet volume","HP:0011877"]
["Abnormal platelet membrane protein expression","HP:0011878"]
["Decreased platelet glycoprotein Ib-IX-V","HP:0011879"]
["Acute disseminated intravascular coagulation","HP:0011880"]
["Decreased platelet glycoprotein VI","HP:0011881"]
["Decreased platelet P2Y12 receptor","HP:0011882"]
["Abnormal platelet granules","HP:0011883"]
["Abnormal umbilical stump bleeding","HP:0011884"]
["Hemorrhage of the eye","HP:0011885"]
["Hyphema","HP:0011886"]
["Choroid hemorrhage","HP:0011887"]
["Bleeding requiring red cell transfusion","HP:0011888"]
["Bleeding with minor or no trauma","HP:0011889"]
["Prolonged bleeding following procedure","HP:0011890"]
["Post-partum hemorrhage","HP:0011891"]
["Low levels of vitamin K","HP:0011892"]
["Abnormal leukocyte count","HP:0011893"]
["Impaired thromboxane A2 agonist-induced platelet aggregation","HP:0011894"]
["Anemia due to reduced life span of red cells","HP:0011895"]
["Subconjunctival hemorrhage","HP:0011896"]
["Neutrophilia","HP:0011897"]
["Abnormality of circulating fibrinogen","HP:0011898"]
["Hyperfibrinogenemia","HP:0011899"]
["Hypofibrinogenemia","HP:0011900"]
["Dysfibrinogenemia","HP:0011901"]
["Abnormal hemoglobin","HP:0011902"]
["HbH hemoglobin","HP:0011903"]
["Persistence of hemoglobin F","HP:0011904"]
["Reduced hemoglobin A","HP:0011905"]
["Reduced beta/alpha synthesis ratio","HP:0011906"]
["Reduced alpha/beta synthesis ratio","HP:0011907"]
["Unilateral radial aplasia","HP:0011908"]
["Flattened metacarpal heads","HP:0011909"]
["Shortening of all phalanges of fingers","HP:0011910"]
["Abnormality of metacarpophalangeal joint","HP:0011911"]
["Abnormality of the glenoid fossa","HP:0011912"]
["Lumbar hypertrichosis","HP:0011913"]
["Thoracic hypertrichosis","HP:0011914"]
["Cardiovascular calcification","HP:0011915"]
["Toe extensor amyotrophy","HP:0011916"]
["Short 5th toe","HP:0011917"]
["Clinodactyly of the 4th toe","HP:0011918"]
["Pleural empyema","HP:0011919"]
["Transudative pleural effusion","HP:0011920"]
["Exudative pleural effusion","HP:0011921"]
["Abnormal activity of mitochondrial respiratory chain","HP:0011922"]
["Decreased activity of mitochondrial complex I","HP:0011923"]
["Decreased activity of mitochondrial complex III","HP:0011924"]
["Decreased activity of mitochondrial ATP synthase complex","HP:0011925"]
["Proximal placement of hallux","HP:0011926"]
["Short digit","HP:0011927"]
["Short proximal phalanx of toe","HP:0011928"]
["Hypersegmentation of proximal phalanx of third finger","HP:0011929"]
["Hyperextensible skin of chest","HP:0011930"]
["Abnormal cerebellar peduncle morphology","HP:0011931"]
["Abnormal superior cerebellar peduncle morphology","HP:0011932"]
["Elongated superior cerebellar peduncle","HP:0011933"]
["Dilatation of mesenteric artery","HP:0011934"]
["Decreased urinary urate","HP:0011935"]
["Decreased plasma total carnitine","HP:0011936"]
["Hypoplastic fifth toenail","HP:0011937"]
["3-4 finger cutaneous syndactyly","HP:0011939"]
["Anterior wedging of T12","HP:0011940"]
["Anterior wedging of L2","HP:0011941"]
["Increased urinary sulfite","HP:0011942"]
["Increased urinary thiosulfate","HP:0011943"]
["Small vessel vasculitis","HP:0011944"]
["Bronchiolitis obliterans organizing pneumonia","HP:0011945"]
["Bronchiolitis obliterans","HP:0011946"]
["Respiratory tract infection","HP:0011947"]
["Recurrent acute respiratory tract infection","HP:0011948"]
["Acute infectious pneumonia","HP:0011949"]
["Bronchiolitis","HP:0011950"]
["Aspiration pneumonia","HP:0011951"]
["Acute aspiration pneumonia","HP:0011952"]
["Pulmonary lymphoma","HP:0011953"]
["Nodular regenerative hyperplasia of liver","HP:0011954"]
["Hepatic granulomatosis","HP:0011955"]
["Intestinal lymphoid nodular hyperplasia","HP:0011956"]
["Abnormal pectoral muscle morphology","HP:0011957"]
["Retinal perforation","HP:0011958"]
["Unilateral hypoplasia of pectoralis major muscle","HP:0011959"]
["Substantia nigra gliosis","HP:0011960"]
["Non-obstructive azoospermia","HP:0011961"]
["Obstructive azoospermia","HP:0011962"]
["Pretesticular azoospermia","HP:0011963"]
["Intermittent painful muscle spasms","HP:0011964"]
["Abnormal circulating citrulline concentration","HP:0011965"]
["Elevated plasma citrulline","HP:0011966"]
["Decreased circulating copper concentration","HP:0011967"]
["Feeding difficulties","HP:0011968"]
["Elevated circulating luteinizing hormone level","HP:0011969"]
["Cerebral amyloid angiopathy","HP:0011970"]
["Dermatographic urticaria","HP:0011971"]
["Hypoglycorrhachia","HP:0011972"]
["Paroxysmal lethargy","HP:0011973"]
["Myelofibrosis","HP:0011974"]
["Aminoglycoside-induced hearing loss","HP:0011975"]
["Elevated urinary catecholamines","HP:0011976"]
["Elevated urinary homovanillic acid","HP:0011977"]
["Elevated urinary vanillylmandelic acid","HP:0011978"]
["Elevated urinary dopamine","HP:0011979"]
["Cholesterol gallstones","HP:0011980"]
["Pigment gallstones","HP:0011981"]
["Black pigment gallstones","HP:0011982"]
["Brown pigment gallstones","HP:0011983"]
["Atretic gallbladder","HP:0011984"]
["Acholic stools","HP:0011985"]
["Ectopic ossification","HP:0011986"]
["Ectopic ossification in muscle tissue","HP:0011987"]
["Ectopic ossification in tendon tissue","HP:0011988"]
["Ectopic ossification in ligament tissue","HP:0011989"]
["Abnormality of neutrophil physiology","HP:0011990"]
["Abnormal neutrophil count","HP:0011991"]
["Abnormality of neutrophil morphology","HP:0011992"]
["Impaired neutrophil bactericidal activity","HP:0011993"]
["Abnormal atrial septum morphology","HP:0011994"]
["Atrial septal dilatation","HP:0011995"]
["Elevated coagulation factor V activity","HP:0011996"]
["Postprandial hyperlactemia","HP:0011997"]
["Postprandial hyperglycemia","HP:0011998"]
["Paranoia","HP:0011999"]
["EEG with generalized spikes","HP:0012000"]
["EEG with generalized polyspikes","HP:0012001"]
["Experiential epileptic aura","HP:0012002"]
["Affective epileptic aura","HP:0012003"]
["Focal cognitive seizure with deja vu/jamais vu","HP:0012004"]
["Deja vu aura","HP:0012005"]
["Jamais vu aura","HP:0012006"]
["Focal cognitive seizure with hallucination","HP:0012007"]
["Focal cognitive seizure with illusion","HP:0012008"]
["EEG with central focal spike waves","HP:0012009"]
["EEG with frontal focal spike waves","HP:0012010"]
["EEG with occipital focal spike waves","HP:0012011"]
["EEG with parietal focal spike waves","HP:0012012"]
["EEG with temporal focal spike waves","HP:0012013"]
["EEG with central focal spikes","HP:0012014"]
["EEG with frontal focal spikes","HP:0012015"]
["EEG with occipital focal spikes","HP:0012016"]
["EEG with parietal focal spikes","HP:0012017"]
["EEG with temporal focal spikes","HP:0012018"]
["Lens luxation","HP:0012019"]
["Right aortic arch","HP:0012020"]
["Persistent patent ductus venosus","HP:0012021"]
["Congenital portosystemic venous shunt","HP:0012022"]
["Galactosuria","HP:0012023"]
["Hypergalactosemia","HP:0012024"]
["Abnormal circulating ornithine concentration","HP:0012025"]
["Hyperornithinemia","HP:0012026"]
["Laryngeal edema","HP:0012027"]
["Hepatocellular adenoma","HP:0012028"]
["Abnormal urine hormone level","HP:0012029"]
["Increased urinary cortisol level","HP:0012030"]
["Lipomatous tumor","HP:0012031"]
["Lipoma","HP:0012032"]
["Sacral lipoma","HP:0012033"]
["Liposarcoma","HP:0012034"]
["Steatocystoma multiplex","HP:0012035"]
["Sternocleidomastoid amyotrophy","HP:0012036"]
["Pectoralis amyotrophy","HP:0012037"]
["Corneal guttata","HP:0012038"]
["Descemet Membrane Folds","HP:0012039"]
["Corneal stromal edema","HP:0012040"]
["Decreased fertility in males","HP:0012041"]
["Aspirin-induced asthma","HP:0012042"]
["Pendular nystagmus","HP:0012043"]
["Seesaw nystagmus","HP:0012044"]
["Retinal flecks","HP:0012045"]
["Areflexia of upper limbs","HP:0012046"]
["Hemeralopia","HP:0012047"]
["Oromandibular dystonia","HP:0012048"]
["Laryngeal dystonia","HP:0012049"]
["Anasarca","HP:0012050"]
["Reactive hypoglycemia","HP:0012051"]
["Low serum calcitriol","HP:0012052"]
["Decreased circulating calcifediol concentration","HP:0012053"]
["Choroidal melanoma","HP:0012054"]
["Ciliary body melanoma","HP:0012055"]
["Cutaneous melanoma","HP:0012056"]
["Superficial spreading melanoma","HP:0012057"]
["Nodular melanoma","HP:0012058"]
["Lentigo maligna melanoma","HP:0012059"]
["Acral lentiginous melanoma","HP:0012060"]
["Urinary excretion of sialylated oligosaccharides","HP:0012061"]
["Bone cyst","HP:0012062"]
["Aneurysmal bone cyst","HP:0012063"]
["Unicameral bone cyst","HP:0012064"]
["Multiple bony cystic lesions","HP:0012065"]
["Increased urinary disaccharide excretion","HP:0012066"]
["Glycopeptiduria","HP:0012067"]
["Aspartylglucosaminuria","HP:0012068"]
["Keratan sulfate excretion in urine","HP:0012069"]
["Chondroitin sulfate excretion in urine","HP:0012070"]
["Abnormal circulating acetylcarnitine concentration","HP:0012071"]
["Aciduria","HP:0012072"]
["Abnormal urinary acylglycine profile","HP:0012073"]
["Tonic pupil","HP:0012074"]
["Personality disorder","HP:0012075"]
["Borderline personality disorder","HP:0012076"]
["Histrionic personality disorder","HP:0012077"]
["Motor conduction block","HP:0012078"]
["Abnormality of central motor conduction","HP:0012079"]
["Cerebellar granular layer atrophy","HP:0012080"]
["Enlarged cerebellum","HP:0012081"]
["Cerebellar Purkinje layer atrophy","HP:0012082"]
["Ubiquitin-positive cerebral inclusion bodies","HP:0012083"]
["Abnormality of skeletal muscle fiber size","HP:0012084"]
["Pyuria","HP:0012085"]
["Abnormal urinary color","HP:0012086"]
["Abnormal mitochondrial shape","HP:0012087"]
["Abnormal urinary odor","HP:0012088"]
["Arteritis","HP:0012089"]
["Abnormal pancreas morphology","HP:0012090"]
["Abnormality of pancreas physiology","HP:0012091"]
["Abnormality of exocrine pancreas physiology","HP:0012092"]
["Abnormality of endocrine pancreas physiology","HP:0012093"]
["Abnormal pancreas size","HP:0012094"]
["Multiple joint dislocation","HP:0012095"]
["Intracranial epidermoid cyst","HP:0012096"]
["Intracranial dermoid cyst","HP:0012097"]
["Edema of the dorsum of feet","HP:0012098"]
["Abnormality of circulating catecholamine level","HP:0012099"]
["Abnormal circulating creatinine concentration","HP:0012100"]
["Decreased serum creatinine","HP:0012101"]
["Abnormal mitochondrial number","HP:0012102"]
["Abnormality of the mitochondrion","HP:0012103"]
["Parietal cortical atrophy","HP:0012104"]
["Occipital cortical atrophy","HP:0012105"]
["Rhizomelic leg shortening","HP:0012106"]
["Increased fibular diameter","HP:0012107"]
["Open angle glaucoma","HP:0012108"]
["Angle closure glaucoma","HP:0012109"]
["Hypoplasia of the pons","HP:0012110"]
["Abnormality of circulating glucocorticoid level","HP:0012111"]
["Abnormal circulating corticosterone level","HP:0012112"]
["Abnormal circulating creatine concentration","HP:0012113"]
["Endometrial carcinoma","HP:0012114"]
["Hepatitis","HP:0012115"]
["Abnormal circulating albumin concentration","HP:0012116"]
["Hyperalbuminemia","HP:0012117"]
["Laryngeal carcinoma","HP:0012118"]
["Methemoglobinemia","HP:0012119"]
["Methylmalonic aciduria","HP:0012120"]
["Panuveitis","HP:0012121"]
["Anterior uveitis","HP:0012122"]
["Posterior uveitis","HP:0012123"]
["Intermediate uveitis","HP:0012124"]
["Prostate cancer","HP:0012125"]
["Stomach cancer","HP:0012126"]
["Uraciluria","HP:0012127"]
["Basal ganglia necrosis","HP:0012128"]
["Abnormality of bone marrow stromal cells","HP:0012129"]
["Abnormal erythroid lineage cell morphology","HP:0012130"]
["Abnormal number of erythroid precursors","HP:0012131"]
["Erythroid hyperplasia","HP:0012132"]
["Erythroid hypoplasia","HP:0012133"]
["Dysplastic erythropoesis","HP:0012134"]
["Abnormal granulocytopoietic cell morphology","HP:0012135"]
["Dysplastic granulopoesis","HP:0012136"]
["Abnormal number of granulocyte precursors","HP:0012137"]
["Granulocytic hyperplasia","HP:0012138"]
["Granulocytic hypoplasia","HP:0012139"]
["obsolete Abnormality of cells of the lymphoid lineage","HP:0012140"]
["Pancreatic squamous cell carcinoma","HP:0012142"]
["Abnormal megakaryocyte morphology","HP:0012143"]
["Abnormal monocyte morphology","HP:0012144"]
["Abnormality of multiple cell lineages in the bone marrow","HP:0012145"]
["Abnormality of von Willebrand factor","HP:0012146"]
["Reduced quantity of Von Willebrand factor","HP:0012147"]
["Multiple lineage myelodysplasia","HP:0012148"]
["Bilineage myelodysplasia","HP:0012149"]
["Single lineage myelodysplasia","HP:0012150"]
["Hemothorax","HP:0012151"]
["Foveoschisis","HP:0012152"]
["Hypotriglyceridemia","HP:0012153"]
["Anhedonia","HP:0012154"]
["Decreased corneal sensation","HP:0012155"]
["Hemophagocytosis","HP:0012156"]
["Subcortical cerebral atrophy","HP:0012157"]
["Carotid artery dissection","HP:0012158"]
["Internal carotid artery dissection","HP:0012159"]
["Intracranial internal carotid artery dissection","HP:0012160"]
["External carotid artery dissection","HP:0012161"]
["Common carotid artery dissection","HP:0012162"]
["Carotid artery dilatation","HP:0012163"]
["Asterixis","HP:0012164"]
["Oligodactyly","HP:0012165"]
["Skin-picking","HP:0012166"]
["Hair-pulling","HP:0012167"]
["Head-banging","HP:0012168"]
["Self-biting","HP:0012169"]
["Nail-biting","HP:0012170"]
["Stereotypical hand wringing","HP:0012171"]
["Stereotypical body rocking","HP:0012172"]
["Orthostatic tachycardia","HP:0012173"]
["Glioblastoma multiforme","HP:0012174"]
["Resistance to activated protein C","HP:0012175"]
["Abnormal natural killer cell morphology","HP:0012176"]
["Abnormal natural killer cell physiology","HP:0012177"]
["Reduced natural killer cell activity","HP:0012178"]
["Craniofacial dystonia","HP:0012179"]
["Cystic medial necrosis","HP:0012180"]
["Entrapment neuropathy","HP:0012181"]
["Oropharyngeal squamous cell carcinoma","HP:0012182"]
["Hyperplastic colonic polyposis","HP:0012183"]
["Increased HDL cholesterol concentration","HP:0012184"]
["Constrictive median neuropathy","HP:0012185"]
["Entrapment neuropathy of the ulnar nerve at elbow","HP:0012186"]
["Increased erythrocyte protoporphyrin concentration","HP:0012187"]
["Hyperemesis gravidarum","HP:0012188"]
["Hodgkin lymphoma","HP:0012189"]
["T-cell lymphoma","HP:0012190"]
["B-cell lymphoma","HP:0012191"]
["Cutaneous T-cell lymphoma","HP:0012192"]
["Anaplastic large-cell lymphoma","HP:0012193"]
["Episodic hemiplegia","HP:0012194"]
["Irregular respiration","HP:0012195"]
["Cheyne-Stokes respiration","HP:0012196"]
["Insulinoma","HP:0012197"]
["Juvenile colonic polyposis","HP:0012198"]
["Cluster headache","HP:0012199"]
["Abnormality of prothrombin","HP:0012200"]
["obsolete Reduced prothrombin activity","HP:0012201"]
["Increased serum bile acid concentration","HP:0012202"]
["Onychomycosis","HP:0012203"]
["Recurrent vulvovaginal candidiasis","HP:0012204"]
["Globozoospermia","HP:0012205"]
["Abnormal sperm motility","HP:0012206"]
["Reduced sperm motility","HP:0012207"]
["Immotile sperm","HP:0012208"]
["Juvenile myelomonocytic leukemia","HP:0012209"]
["Abnormal renal morphology","HP:0012210"]
["Abnormal renal physiology","HP:0012211"]
["Abnormal glomerular filtration rate","HP:0012212"]
["Decreased glomerular filtration rate","HP:0012213"]
["Increased glomerular filtration rate","HP:0012214"]
["Testicular microlithiasis","HP:0012215"]
["Entrapment neuropathy of suprascapular nerve","HP:0012216"]
["Increased urinary porphobilinogen","HP:0012217"]
["Alveolar soft part sarcoma","HP:0012218"]
["Erythema nodosum","HP:0012219"]
["Non-caseating epithelioid cell granulomatosis","HP:0012220"]
["Pretibial blistering","HP:0012221"]
["Arachnoid hemangiomatosis","HP:0012222"]
["Splenic rupture","HP:0012223"]
["Circulating immune complexes","HP:0012224"]
["Oligodontia of primary teeth","HP:0012225"]
["Ovarian teratoma","HP:0012226"]
["Urethral stricture","HP:0012227"]
["Tension-type headache","HP:0012228"]
["CSF pleocytosis","HP:0012229"]
["Rhegmatogenous retinal detachment","HP:0012230"]
["Exudative retinal detachment","HP:0012231"]
["Shortened QT interval","HP:0012232"]
["Intramuscular hematoma","HP:0012233"]
["Agranulocytosis","HP:0012234"]
["Drug-induced agranulocytosis","HP:0012235"]
["Elevated sweat chloride","HP:0012236"]
["Urocanic aciduria","HP:0012237"]
["Increased circulating chylomicron concentration","HP:0012238"]
["Atransferrinemia","HP:0012239"]
["Increased intramyocellular lipid droplets","HP:0012240"]
["Levator palpebrae superioris atrophy","HP:0012241"]
["Superior rectus atrophy","HP:0012242"]
["Abnormal reproductive system morphology","HP:0012243"]
["Abnormal sex determination","HP:0012244"]
["Sex reversal","HP:0012245"]
["Oculomotor nerve palsy","HP:0012246"]
["Specific anosmia","HP:0012247"]
["Prolonged PR interval","HP:0012248"]
["Abnormal ST segment","HP:0012249"]
["ST segment depression","HP:0012250"]
["ST segment elevation","HP:0012251"]
["Abnormal respiratory system morphology","HP:0012252"]
["Abnormal respiratory epithelium morphology","HP:0012253"]
["Ewing sarcoma","HP:0012254"]
["Dynein arm defect of respiratory motile cilia","HP:0012255"]
["Absent outer dynein arms","HP:0012256"]
["Absent inner dynein arms","HP:0012257"]
["Abnormal axonemal organization of respiratory motile cilia","HP:0012258"]
["Absent inner and outer dynein arms","HP:0012259"]
["Abnormal central microtubular pair morphology of respiratory motile cilia","HP:0012260"]
["Abnormal respiratory motile cilium physiology","HP:0012261"]
["Abnormal ciliary motility","HP:0012262"]
["Immotile cilia","HP:0012263"]
["Absent central microtubular pair morphology of respiratory motile cilia","HP:0012264"]
["Ciliary dyskinesia","HP:0012265"]
["T-wave alternans","HP:0012266"]
["Absent respiratory ciliary axoneme radial spokes","HP:0012267"]
["Myxoid liposarcoma","HP:0012268"]
["Abnormal muscle glycogen content","HP:0012269"]
["Decreased muscle glycogen content","HP:0012270"]
["Episodic upper airway obstruction","HP:0012271"]
["J wave","HP:0012272"]
["Increased carotid artery intimal medial thickness","HP:0012273"]
["Autosomal dominant inheritance with paternal imprinting","HP:0012274"]
["Autosomal dominant inheritance with maternal imprinting","HP:0012275"]
["Digital flexor tenosynovitis","HP:0012276"]
["Hypoglycinemia","HP:0012277"]
["Abnormal circulating serine concentration","HP:0012278"]
["Hyposerinemia","HP:0012279"]
["Hepatic amyloidosis","HP:0012280"]
["Chylous ascites","HP:0012281"]
["Morbilliform rash","HP:0012282"]
["Small distal femoral epiphysis","HP:0012283"]
["Small proximal tibial epiphyses","HP:0012284"]
["Abnormal hypothalamus physiology","HP:0012285"]
["Abnormal hypothalamus morphology","HP:0012286"]
["Hypothalamic luteinizing hormone-releasing hormone deficiency","HP:0012287"]
["Neoplasm of head and neck","HP:0012288"]
["Facial neoplasm","HP:0012289"]
["Mouth neoplasm","HP:0012290"]
["obsolete Tracheal neoplasm","HP:0012291"]
["Fusion of gums","HP:0012292"]
["Abnormal genital pigmentation","HP:0012293"]
["Abnormal occipital bone morphology","HP:0012294"]
["Slender middle phalanx of finger","HP:0012295"]
["Slender distal phalanx of finger","HP:0012296"]
["Slender proximal phalanx of finger","HP:0012297"]
["Long middle phalanx of finger","HP:0012298"]
["Long distal phalanx of finger","HP:0012299"]
["Ureteral agenesis","HP:0012300"]
["Type II transferrin isoform profile","HP:0012301"]
["Herpes simplex encephalitis","HP:0012302"]
["Abnormal aortic arch morphology","HP:0012303"]
["Hypoplastic aortic arch","HP:0012304"]
["Coarctation of the descending aortic arch","HP:0012305"]
["Abnormal rib ossification","HP:0012306"]
["Spatulate ribs","HP:0012307"]
["Decreased serum complement C9","HP:0012308"]
["Cutaneous amyloidosis","HP:0012309"]
["Abnormal monocyte count","HP:0012310"]
["Monocytosis","HP:0012311"]
["Monocytopenia","HP:0012312"]
["Heberden's node","HP:0012313"]
["Bouchard's node","HP:0012314"]
["Histiocytoma","HP:0012315"]
["Fibrous tissue neoplasm","HP:0012316"]
["Sacroiliac arthritis","HP:0012317"]
["Occipital neuralgia","HP:0012318"]
["Absent pigmentation of the abdomen","HP:0012319"]
["Absent pigmentation of the limbs","HP:0012320"]
["D-2-hydroxyglutaric aciduria","HP:0012321"]
["Perifolliculitis","HP:0012322"]
["Sleep myoclonus","HP:0012323"]
["Myeloid leukemia","HP:0012324"]
["Chronic myelomonocytic leukemia","HP:0012325"]
["Abnormal celiac artery morphology","HP:0012326"]
["Celiac artery compression","HP:0012327"]
["Cementoma","HP:0012328"]
["Tufted angioma","HP:0012329"]
["Pyelonephritis","HP:0012330"]
["Abnormal autonomic nervous system morphology","HP:0012331"]
["Abnormal autonomic nervous system physiology","HP:0012332"]
["Abnormal sudomotor regulation","HP:0012333"]
["Extrahepatic cholestasis","HP:0012334"]
["Abnormality of folate metabolism","HP:0012335"]
["obsolete Reduced cerebrospinal fluid 5-methyltetrahydrofolate concentration","HP:0012336"]
["Abnormal homeostasis","HP:0012337"]
["Abnormal energy expenditure","HP:0012338"]
["Increased resting energy expenditure","HP:0012339"]
["Decreased resting energy expenditure","HP:0012340"]
["Microprolactinoma","HP:0012341"]
["Macroprolactinoma","HP:0012342"]
["Decreased circulating ferritin concentration","HP:0012343"]
["Morphea","HP:0012344"]
["Abnormal glycosylation","HP:0012345"]
["Abnormal protein glycosylation","HP:0012346"]
["Abnormal protein N-linked glycosylation","HP:0012347"]
["Decreased galactosylation of N-linked protein glycosylation","HP:0012348"]
["Abnormal sialylation of N-linked protein glycosylation","HP:0012349"]
["Decreased sialylation of N-linked protein glycosylation","HP:0012350"]
["Increased sialylation of N-linked protein glycosylation","HP:0012351"]
["Abnormal fucosylation of protein N-linked glycosylation","HP:0012352"]
["Decreased fucosylation of N-linked protein glycosylation","HP:0012353"]
["Increased fucosylation of N-linked protein glycosylation","HP:0012354"]
["Abnormal mannosylation of N-linked protein glycosylation","HP:0012355"]
["Decreased mannosylation of N-linked protein glycosylation","HP:0012356"]
["Increased mannosylation of N-linked protein glycosylation","HP:0012357"]
["Abnormal protein O-linked glycosylation","HP:0012358"]
["Abnormal fucosylation of O-linked protein glycosylation","HP:0012359"]
["Decreased fucosylation of O-linked protein glycosylation","HP:0012360"]
["Increased fucosylation of O-linked protein glycosylation","HP:0012361"]
["Abnormal sialylation of O-linked protein glycosylation","HP:0012362"]
["Decreased sialylation of O-linked protein glycosylation","HP:0012363"]
["Decreased urinary potassium","HP:0012364"]
["Hypophosphaturia","HP:0012365"]
["Basilar invagination","HP:0012366"]
["Extra fontanelles","HP:0012367"]
["Flat face","HP:0012368"]
["Abnormality of malar bones","HP:0012369"]
["Prominence of the zygomatic bone","HP:0012370"]
["Hyperplasia of midface","HP:0012371"]
["Abnormal eye morphology","HP:0012372"]
["Abnormal eye physiology","HP:0012373"]
["obsolete Abnormal globe morphology","HP:0012374"]
["Chemosis","HP:0012375"]
["Microphakia","HP:0012376"]
["Hemianopia","HP:0012377"]
["Fatigue","HP:0012378"]
["Abnormal enzyme/coenzyme activity","HP:0012379"]
["Reduced carnitine O-palmitoyltransferase level","HP:0012380"]
["Delayed self-feeding during toddler years","HP:0012381"]
["Left-to-right shunt","HP:0012382"]
["Bidirectional shunt","HP:0012383"]
["Rhinitis","HP:0012384"]
["Camptodactyly","HP:0012385"]
["Absent hallux","HP:0012386"]
["Bronchitis","HP:0012387"]
["Acute bronchitis","HP:0012388"]
["Appendicular hypotonia","HP:0012389"]
["Anal fissure","HP:0012390"]
["Hyporeflexia of upper limbs","HP:0012391"]
["Jaw hyporeflexia","HP:0012392"]
["Allergy","HP:0012393"]
["Iodine contrast allergy","HP:0012394"]
["Seasonal allergy","HP:0012395"]
["Biliary dyskinesia","HP:0012396"]
["Aortic atherosclerotic lesion","HP:0012397"]
["Peripheral edema","HP:0012398"]
["Pressure ulcer","HP:0012399"]
["Abnormal aldolase level","HP:0012400"]
["Abnormal urine alpha-ketoglutarate concentration","HP:0012401"]
["Increased urine alpha-ketoglutarate concentration","HP:0012402"]
["Decreased urine alpha-ketoglutarate concentration","HP:0012403"]
["Abnormal urine citrate concentration","HP:0012404"]
["Hypocitraturia","HP:0012405"]
["Hypercitraturia","HP:0012406"]
["Scissor gait","HP:0012407"]
["Medullary nephrocalcinosis","HP:0012408"]
["Cortical nephrocalcinosis","HP:0012409"]
["Pure red cell aplasia","HP:0012410"]
["Premature pubarche","HP:0012411"]
["Premature adrenarche","HP:0012412"]
["Notched primary central incisor","HP:0012413"]
["Duodenal atrophy","HP:0012414"]
["Abnormal blood gas level","HP:0012415"]
["Hypercapnia","HP:0012416"]
["Hypocapnia","HP:0012417"]
["Hypoxemia","HP:0012418"]
["Hyperoxemia","HP:0012419"]
["Meconium stained amniotic fluid","HP:0012420"]
["Congenital absence of foreskin","HP:0012421"]
["Villous hypertrophy of choroid plexus","HP:0012422"]
["Colonic inertia","HP:0012423"]
["Chorioretinitis","HP:0012424"]
["Stercoral ulcer","HP:0012425"]
["Optic disc drusen","HP:0012426"]
["Excessive femoral anteversion","HP:0012427"]
["Prominent calcaneus","HP:0012428"]
["Aplasia/Hypoplasia of the cerebral white matter","HP:0012429"]
["Cerebral white matter hypoplasia","HP:0012430"]
["Episodic fatigue","HP:0012431"]
["Chronic fatigue","HP:0012432"]
["Abnormal social behavior","HP:0012433"]
["Delayed social development","HP:0012434"]
["Ventral shortening of foreskin","HP:0012435"]
["Nonocclusive coronary artery atherosclerosis","HP:0012436"]
["Abnormal gallbladder morphology","HP:0012437"]
["Abnormal gallbladder physiology","HP:0012438"]
["Abnormal biliary tract physiology","HP:0012439"]
["Abnormal biliary tract morphology","HP:0012440"]
["Sphincter of Oddi dyskinesia","HP:0012441"]
["Gallbladder dyskinesia","HP:0012442"]
["Abnormality of brain morphology","HP:0012443"]
["Brain atrophy","HP:0012444"]
["Decreased CSF 5-methyltetrahydrofolate concentration","HP:0012446"]
["Abnormal myelination","HP:0012447"]
["Delayed myelination","HP:0012448"]
["Sacroiliac joint synovitis","HP:0012449"]
["Chronic constipation","HP:0012450"]
["Acute constipation","HP:0012451"]
["Restless legs","HP:0012452"]
["Bilateral wrist flexion contracture","HP:0012453"]
["Unilateral wrist flexion contracture","HP:0012454"]
["obsolete Large artery calcification","HP:0012455"]
["Medial arterial calcification","HP:0012456"]
["Medial calcification of medium-sized arteries","HP:0012457"]
["Medial calcification of small arteries","HP:0012458"]
["Hypnic headache","HP:0012459"]
["Dysmorphic inferior cerebellar vermis","HP:0012460"]
["Bacteriuria","HP:0012461"]
["Chin myoclonus","HP:0012462"]
["Elevated transferrin saturation","HP:0012463"]
["Decreased transferrin saturation","HP:0012464"]
["Elevated hepatic iron concentration","HP:0012465"]
["Chronic respiratory acidosis","HP:0012466"]
["Acute respiratory acidosis","HP:0012467"]
["Chronic acidosis","HP:0012468"]
["Infantile spasms","HP:0012469"]
["Setting-sun eye phenomenon","HP:0012470"]
["Thick vermilion border","HP:0012471"]
["Eclabion","HP:0012472"]
["Tongue atrophy","HP:0012473"]
["Carotid artery occlusion","HP:0012474"]
["Decreased circulating level of specific antibody","HP:0012475"]
["Decreased specific pneumococcal antibody level","HP:0012476"]
["Vocal tremor","HP:0012477"]
["Temporomandibular joint ankylosis","HP:0012478"]
["Temporomandibular joint crepitus","HP:0012479"]
["Abnormal cerebral vein morphology","HP:0012480"]
["Cerebral venous angioma","HP:0012481"]
["Frontal venous angioma","HP:0012482"]
["Abnormal alpha granules","HP:0012483"]
["Abnormal dense granules","HP:0012484"]
["Abnormal surface-connected open canalicular system","HP:0012485"]
["Myelitis","HP:0012486"]
["Cerebellopontine angle arachnoid cyst","HP:0012487"]
["Intraventricular arachnoid cyst","HP:0012488"]
["Suprasellar arachnoid cyst","HP:0012489"]
["Panniculitis","HP:0012490"]
["Abnormal dense tubular system","HP:0012491"]
["Cerebral artery stenosis","HP:0012492"]
["Middle cerebral artery stenosis","HP:0012493"]
["Anterior cerebral artery stenosis","HP:0012494"]
["Posterior cerebral artery stenosis","HP:0012495"]
["Reduced maximal inspiratory pressure","HP:0012496"]
["Reduced maximal expiratory pressure","HP:0012497"]
["Nuchal cord","HP:0012498"]
["Descending aortic dissection","HP:0012499"]
["Verrucous papule","HP:0012500"]
["Abnormality of the brainstem white matter","HP:0012501"]
["Abnormality of the internal capsule","HP:0012502"]
["Abnormality of the pituitary gland","HP:0012503"]
["Abnormal size of pituitary gland","HP:0012504"]
["Enlarged pituitary gland","HP:0012505"]
["Small pituitary gland","HP:0012506"]
["Weakness of orbicularis oculi muscle","HP:0012507"]
["Metamorphopsia","HP:0012508"]
["Reduced thyroxin-binding globulin","HP:0012509"]
["Extra-axial cerebrospinal fluid accumulation","HP:0012510"]
["Temporal optic disc pallor","HP:0012511"]
["Diffuse optic disc pallor","HP:0012512"]
["Upper limb pain","HP:0012513"]
["Lower limb pain","HP:0012514"]
["Hip flexor weakness","HP:0012515"]
["Tetralogy of Fallot with pulmonary atresia","HP:0012516"]
["Reduced catalase level","HP:0012517"]
["Abnormal circle of Willis morphology","HP:0012518"]
["Hypoplastic posterior communicating artery","HP:0012519"]
["Perivascular spaces","HP:0012520"]
["Optic nerve aplasia","HP:0012521"]
["Spider hemangioma","HP:0012522"]
["Oral aversion","HP:0012523"]
["Abnormal platelet shape","HP:0012524"]
["Abnormal alpha granule distribution","HP:0012525"]
["Absence of alpha granules","HP:0012526"]
["Abnormal alpha granule content","HP:0012527"]
["Abnormal number of alpha granules","HP:0012528"]
["Abnormal dense granule content","HP:0012529"]
["Abnormal number of dense granules","HP:0012530"]
["Pain","HP:0012531"]
["Chronic pain","HP:0012532"]
["Allodynia","HP:0012533"]
["Dysesthesia","HP:0012534"]
["Abnormal synaptic transmission","HP:0012535"]
["Maternal anticardiolipin antibody positive","HP:0012536"]
["Food intolerance","HP:0012537"]
["Gluten intolerance","HP:0012538"]
["Non-Hodgkin lymphoma","HP:0012539"]
["Axillary epidermoid cyst","HP:0012540"]
["Cephalohematoma","HP:0012541"]
["Onychauxis","HP:0012542"]
["Hemosiderinuria","HP:0012543"]
["Elevated aldolase level","HP:0012544"]
["Reduced aldolase level","HP:0012545"]
["Skewed maternal X inactivation","HP:0012546"]
["Abnormal involuntary eye movements","HP:0012547"]
["Fatty replacement of skeletal muscle","HP:0012548"]
["Conjunctival lipoma","HP:0012549"]
["Colonic varices","HP:0012550"]
["Absent neutrophil specific granules","HP:0012551"]
["Increased neutrophil nuclear projections","HP:0012552"]
["Hypoplastic thumbnail","HP:0012553"]
["Absent thumbnail","HP:0012554"]
["Absent nail of hallux","HP:0012555"]
["Hyperbeta-alaninemia","HP:0012556"]
["EEG with centrotemporal focal spike waves","HP:0012557"]
["Abnormal T3/T4 ratio","HP:0012558"]
["Increased T3/T4 ratio","HP:0012559"]
["Decreased T3/T4 ratio","HP:0012560"]
["Unicuspid aortic valve","HP:0012561"]
["Premature epimetaphyseal fusion in hand","HP:0012562"]
["Premature epimetaphyseal fusion in foot","HP:0012563"]
["Premature epimetaphyseal fusion in tibia","HP:0012564"]
["Premature epimetaphyseal fusion in fibula","HP:0012565"]
["Premature epimetaphyseal fusion in radius","HP:0012566"]
["Premature epimetaphyseal fusion in ulna","HP:0012567"]
["Lower eyelid edema","HP:0012568"]
["Delayed menarche","HP:0012569"]
["Synovial sarcoma","HP:0012570"]
["Ureter fissus","HP:0012571"]
["Ureter duplex","HP:0012572"]
["Global proximal tubulopathy","HP:0012573"]
["Mesangial hypercellularity","HP:0012574"]
["Abnormal nephron morphology","HP:0012575"]
["Glomerular C3 deposition","HP:0012576"]
["Thin glomerular basement membrane","HP:0012577"]
["Membranous nephropathy","HP:0012578"]
["Minimal change glomerulonephritis","HP:0012579"]
["Calcium phosphate nephrolithiasis","HP:0012580"]
["Simple renal cyst","HP:0012581"]
["Bilateral renal dysplasia","HP:0012582"]
["Unilateral renal hypoplasia","HP:0012583"]
["Bilateral renal hypoplasia","HP:0012584"]
["Renal atrophy","HP:0012585"]
["Bilateral renal atrophy","HP:0012586"]
["Macroscopic hematuria","HP:0012587"]
["Steroid-resistant nephrotic syndrome","HP:0012588"]
["Multidrug-resistant nephrotic syndrome","HP:0012589"]
["Abnormal urine output","HP:0012590"]
["Abnormal urinary electrolyte concentration","HP:0012591"]
["Albuminuria","HP:0012592"]
["Nephrotic range proteinuria","HP:0012593"]
["Moderate albuminuria","HP:0012594"]
["Mild proteinuria","HP:0012595"]
["Moderate proteinuria","HP:0012596"]
["Heavy proteinuria","HP:0012597"]
["Abnormal urine potassium concentration","HP:0012598"]
["Abnormal urine phosphate concentration","HP:0012599"]
["Abnormal urine chloride concentration","HP:0012600"]
["Hypochloriduria","HP:0012601"]
["Renal chloride wasting","HP:0012602"]
["Abnormal urine sodium concentration","HP:0012603"]
["Hyponatriuria","HP:0012604"]
["Hypernatriuria","HP:0012605"]
["Renal sodium wasting","HP:0012606"]
["Abnormal urine magnesium concentration","HP:0012607"]
["Hypermagnesiuria","HP:0012608"]
["Hypomagnesiuria","HP:0012609"]
["Abnormality of urinary uric acid concentration","HP:0012610"]
["Increased urinary urate","HP:0012611"]
["Abnormal urinary sulfate concentration","HP:0012612"]
["Increased urinary sulfate","HP:0012613"]
["Abnormal urine cytology","HP:0012614"]
["Cylindruria","HP:0012615"]
["Leukocyte cylindruria","HP:0012616"]
["Erythrocyte cylindruria","HP:0012617"]
["Urachal cyst","HP:0012618"]
["Multiple bladder diverticula","HP:0012619"]
["Cloacal abnormality","HP:0012620"]
["Persistent cloaca","HP:0012621"]
["Chronic kidney disease","HP:0012622"]
["Stage 1 chronic kidney disease","HP:0012623"]
["Stage 2 chronic kidney disease","HP:0012624"]
["Stage 3 chronic kidney disease","HP:0012625"]
["Stage 4 chronic kidney disease","HP:0012626"]
["Pseudoexfoliation","HP:0012627"]
["Abnormal suspensory ligament of lens morphology","HP:0012628"]
["Phakodonesis","HP:0012629"]
["Abnormal trabecular meshwork morphology","HP:0012630"]
["Pigment deposition in the trabecular meshwork","HP:0012631"]
["Abnormal intraocular pressure","HP:0012632"]
["Asymmetry of intraocular pressure","HP:0012633"]
["Iris pigment dispersion","HP:0012634"]
["Iris hypoperfusion","HP:0012635"]
["Retinal vein occlusion","HP:0012636"]
["Renal calcium wasting","HP:0012637"]
["Abnormal nervous system physiology","HP:0012638"]
["Abnormal nervous system morphology","HP:0012639"]
["Abnormality of intracranial pressure","HP:0012640"]
["Decreased intracranial pressure","HP:0012641"]
["Cerebellar agenesis","HP:0012642"]
["Foveal hypopigmentation","HP:0012643"]
["Increased caudate lactate level","HP:0012644"]
["Enlarged peripheral nerve","HP:0012645"]
["Retractile testis","HP:0012646"]
["Abnormal inflammatory response","HP:0012647"]
["Decreased inflammatory response","HP:0012648"]
["Increased inflammatory response","HP:0012649"]
["Perisylvian polymicrogyria","HP:0012650"]
["Abasia","HP:0012651"]
["Exercise-induced asthma","HP:0012652"]
["Status asthmaticus","HP:0012653"]
["Abnormal CSF dopamine level","HP:0012654"]
["Elevated CSF dopamine level","HP:0012655"]
["Reduced CSF dopamine level","HP:0012656"]
["Abnormal brain positron emission tomography","HP:0012657"]
["Abnormal brain FDG positron emission tomography","HP:0012658"]
["Prefrontal hypometabolism in FDG PET","HP:0012659"]
["Thalamic hypometabolism in FDG PET","HP:0012660"]
["Hypothalamic hypometabolism in FDG PET","HP:0012661"]
["Parietal hypometabolism in FDG PET","HP:0012662"]
["Mildly reduced ejection fraction","HP:0012663"]
["Reduced ejection fraction","HP:0012664"]
["Moderately reduced ejection fraction","HP:0012665"]
["Severely reduced ejection fraction","HP:0012666"]
["Regional left ventricular wall motion abnormality","HP:0012667"]
["Vasovagal syncope","HP:0012668"]
["Carotid sinus syncope","HP:0012669"]
["Orthostatic syncope","HP:0012670"]
["Abulia","HP:0012671"]
["Akinetic mutism","HP:0012672"]
["Aplasia of the upper vagina","HP:0012673"]
["Aplasia of the lower vagina","HP:0012674"]
["Iron accumulation in brain","HP:0012675"]
["Copper accumulation in brain","HP:0012676"]
["Iron accumulation in globus pallidus","HP:0012677"]
["Iron accumulation in substantia nigra","HP:0012678"]
["Widened interpedicular distance","HP:0012679"]
["Abnormality of the pineal gland","HP:0012680"]
["Abnormal pineal morphology","HP:0012681"]
["Pineal gland calcification","HP:0012682"]
["Pineal cyst","HP:0012683"]
["Abnormal pineal volume","HP:0012684"]
["Decreased pineal volume","HP:0012685"]
["Increased pineal volume","HP:0012686"]
["Agenesis of pineal gland","HP:0012687"]
["Abnormality of pineal physiology","HP:0012688"]
["Abnormal pineal melatonin secretion","HP:0012689"]
["T2 hypointense thalamus","HP:0012690"]
["Focal T2 hypointense thalamic lesion","HP:0012691"]
["Focal T2 hyperintense thalamic lesion","HP:0012692"]
["Abnormal thalamic size","HP:0012693"]
["Enlarged thalamic volume","HP:0012694"]
["Decreased thalamic volume","HP:0012695"]
["Abnormal thalamic MRI signal intensity","HP:0012696"]
["Small basal ganglia","HP:0012697"]
["Cerebellar gliosis","HP:0012698"]
["Anomaly of lower limb diaphyses","HP:0012699"]
["Abnormal large intestine physiology","HP:0012700"]
["Bowel urgency","HP:0012701"]
["Tenesmus","HP:0012702"]
["Abnormal subarachnoid space morphology","HP:0012703"]
["Widened subarachnoid space","HP:0012704"]
["Abnormal metabolic brain imaging by MRS","HP:0012705"]
["Elevated brain choline level by MRS","HP:0012706"]
["Elevated brain lactate level by MRS","HP:0012707"]
["Reduced brain N-acetyl aspartate level by MRS","HP:0012708"]
["Abnormal brain choline/creatine ratio by MRS","HP:0012709"]
["Ingrown nail","HP:0012710"]
["Delayed ossification of vertebral epiphysis","HP:0012711"]
["Mild hearing impairment","HP:0012712"]
["Moderate hearing impairment","HP:0012713"]
["Severe hearing impairment","HP:0012714"]
["Profound hearing impairment","HP:0012715"]
["Moderate conductive hearing impairment","HP:0012716"]
["Severe conductive hearing impairment","HP:0012717"]
["Morphological abnormality of the gastrointestinal tract","HP:0012718"]
["Functional abnormality of the gastrointestinal tract","HP:0012719"]
["Neoplasm of the nose","HP:0012720"]
["Venous malformation","HP:0012721"]
["Heart block","HP:0012722"]
["Sinoatrial block","HP:0012723"]
["Upper eyelid edema","HP:0012724"]
["Cutaneous syndactyly","HP:0012725"]
["Episodic hypokalemia","HP:0012726"]
["Thoracic aortic aneurysm","HP:0012727"]
["Fusiform descending thoracic aortic aneurysm","HP:0012728"]
["Saccular descending thoracic aortic aneurysm","HP:0012729"]
["Aglossia","HP:0012730"]
["Ectopic anterior pituitary gland","HP:0012731"]
["Anorectal anomaly","HP:0012732"]
["Macule","HP:0012733"]
["Ketotic hypoglycemia","HP:0012734"]
["Cough","HP:0012735"]
["Profound global developmental delay","HP:0012736"]
["Small intestinal polyp","HP:0012737"]
["Agenesis of canine","HP:0012738"]
["Agenesis of the small intestine","HP:0012739"]
["Papilloma","HP:0012740"]
["Unilateral cryptorchidism","HP:0012741"]
["Thin fingernail","HP:0012742"]
["Abdominal obesity","HP:0012743"]
["Femoral aplasia","HP:0012744"]
["Short palpebral fissure","HP:0012745"]
["Thin toenail","HP:0012746"]
["Abnormal brainstem MRI signal intensity","HP:0012747"]
["Focal T2 hyperintense brainstem lesion","HP:0012748"]
["Focal T2 hypointense brainstem lesion","HP:0012749"]
["T2 hypointense brainstem","HP:0012750"]
["Abnormal basal ganglia MRI signal intensity","HP:0012751"]
["Focal T2 hypointense basal ganglia lesion","HP:0012752"]
["T2 hypointense basal ganglia","HP:0012753"]
["CNS hypermyelination","HP:0012754"]
["Enlarged brainstem","HP:0012755"]
["CSF polymorphonuclear pleocytosis","HP:0012756"]
["Abnormal neuron morphology","HP:0012757"]
["Neurodevelopmental delay","HP:0012758"]
["Neurodevelopmental abnormality","HP:0012759"]
["Impaired social reciprocity","HP:0012760"]
["Absent mastoid","HP:0012761"]
["Cerebral white matter atrophy","HP:0012762"]
["Paroxysmal dyspnea","HP:0012763"]
["Orthopnea","HP:0012764"]
["Widened cerebellar subarachnoid space","HP:0012765"]
["Widened cerebral subarachnoid space","HP:0012766"]
["Abnormal placental size","HP:0012767"]
["Neonatal asphyxia","HP:0012768"]
["Abnormal arm span","HP:0012769"]
["Reduced arm span","HP:0012770"]
["Increased arm span","HP:0012771"]
["Abnormal upper to lower segment ratio","HP:0012772"]
["Reduced upper to lower segment ratio","HP:0012773"]
["Increased upper to lower segment ratio","HP:0012774"]
["Stellate iris","HP:0012775"]
["Abnormal ciliary body morphology","HP:0012776"]
["Retinal neoplasm","HP:0012777"]
["Retinal astrocytic hamartoma","HP:0012778"]
["Transient hearing impairment","HP:0012779"]
["Neoplasm of the ear","HP:0012780"]
["Mid-frequency hearing loss","HP:0012781"]
["Perilobar nephrogenic rest","HP:0012782"]
["Intralobar nephrogenic rest","HP:0012783"]
["Perinephritis","HP:0012784"]
["Flexion contracture of finger","HP:0012785"]
["Recurrent cystitis","HP:0012786"]
["Recurrent pyelonephritis","HP:0012787"]
["Reticulate pigmentation of oral mucosa","HP:0012788"]
["Hypoplasia of the calcaneus","HP:0012789"]
["Abnormal intramembranous ossification","HP:0012790"]
["Abnormal humeral ossification","HP:0012791"]
["Absent ossification of thoracic vertebral bodies","HP:0012792"]
["Kinked brainstem","HP:0012793"]
["Periventricular white matter hypodensities","HP:0012794"]
["Abnormality of the optic disc","HP:0012795"]
["Increased cup-to-disc ratio","HP:0012796"]
["Lymphatic vessel neoplasm","HP:0012797"]
["Pulmonary lymphangiomyomatosis","HP:0012798"]
["Unilateral facial palsy","HP:0012799"]
["Accessory cranial suture","HP:0012800"]
["Narrow jaw","HP:0012801"]
["Broad jaw","HP:0012802"]
["Anisometropia","HP:0012803"]
["Corneal ulceration","HP:0012804"]
["Iris transillumination defect","HP:0012805"]
["Proboscis","HP:0012806"]
["High insertion of columella","HP:0012807"]
["Abnormal nasal base","HP:0012808"]
["Narrow nasal base","HP:0012809"]
["Wide nasal base","HP:0012810"]
["Wide nasal ridge","HP:0012811"]
["Fullness of paranasal tissue","HP:0012812"]
["Unilateral breast hypoplasia","HP:0012813"]
["Bilateral breast hypoplasia","HP:0012814"]
["Hypoplastic female external genitalia","HP:0012815"]
["Right ventricular noncompaction cardiomyopathy","HP:0012816"]
["Noncompaction cardiomyopathy","HP:0012817"]
["Biventricular noncompaction cardiomyopathy","HP:0012818"]
["Myocarditis","HP:0012819"]
["Bilateral vocal cord paralysis","HP:0012820"]
["Unilateral vocal cord paresis","HP:0012821"]
["Bilateral vocal cord paresis","HP:0012822"]
["Clinical modifier","HP:0012823"]
["Severity","HP:0012824"]
["Mild","HP:0012825"]
["Moderate","HP:0012826"]
["Borderline","HP:0012827"]
["Severe","HP:0012828"]
["Profound","HP:0012829"]
["Position","HP:0012830"]
["Laterality","HP:0012831"]
["Bilateral","HP:0012832"]
["Unilateral","HP:0012833"]
["Right","HP:0012834"]
["Left","HP:0012835"]
["Spatial pattern","HP:0012836"]
["Generalized","HP:0012837"]
["Localized","HP:0012838"]
["Distal","HP:0012839"]
["Proximal","HP:0012840"]
["Retinal vascular tortuosity","HP:0012841"]
["Skin appendage neoplasm","HP:0012842"]
["Hair follicle neoplasm","HP:0012843"]
["Trichilemmoma","HP:0012844"]
["Single trichilemmoma","HP:0012845"]
["Multiple trichilemmomata","HP:0012846"]
["Epilepsia partialis continua","HP:0012847"]
["Small intestinal stenosis","HP:0012848"]
["Small intestinal bleeding","HP:0012849"]
["Small intestinal dysmotility","HP:0012850"]
["Colonic stenosis","HP:0012851"]
["Hepatic bridging fibrosis","HP:0012852"]
["Scrotal hypospadias","HP:0012853"]
["Midshaft hypospadias","HP:0012854"]
["Scrotal hyperpigmentation","HP:0012855"]
["Abnormal scrotal rugation","HP:0012856"]
["Increased scrotal rugation","HP:0012857"]
["Decreased scrotal rugation","HP:0012858"]
["Esophageal leukoplakia","HP:0012859"]
["Testicular fibrosis","HP:0012860"]
["Ovotestis","HP:0012861"]
["Abnormal germ cell morphology","HP:0012862"]
["Abnormal male germ cell morphology","HP:0012863"]
["Abnormal sperm morphology","HP:0012864"]
["Abnormal sperm head morphology","HP:0012865"]
["Abnormal sperm neck morphology","HP:0012866"]
["Abnormal sperm mid-piece morphology","HP:0012867"]
["Abnormal sperm tail morphology","HP:0012868"]
["Acephalic spermatozoa","HP:0012869"]
["Vanishing testis","HP:0012870"]
["Varicocele","HP:0012871"]
["Abnormal vas deferens morphology","HP:0012872"]
["Absent vas deferens","HP:0012873"]
["Abnormal male reproductive system physiology","HP:0012874"]
["Abnormal ejaculation","HP:0012875"]
["Premature ejaculation","HP:0012876"]
["Retrograde ejaculation","HP:0012877"]
["Retarded ejaculation","HP:0012878"]
["Anejaculation","HP:0012879"]
["Abnormal labia minora morphology","HP:0012880"]
["Abnormal labia majora morphology","HP:0012881"]
["Hyperplastic labia majora","HP:0012882"]
["Fallopian tube cyst","HP:0012883"]
["Fallopian tube torsion","HP:0012884"]
["Fallopian tube duplication","HP:0012885"]
["Hemorrhagic ovarian cyst","HP:0012886"]
["Ovarian serous cystadenoma","HP:0012887"]
["Abnormality of the uterine cervix","HP:0012888"]
["Cervical endometriosis","HP:0012889"]
["Posteriorly placed anus","HP:0012890"]
["High posterior hairline","HP:0012891"]
["Facial muscle hypertrophy","HP:0012892"]
["Neck muscle hypertrophy","HP:0012893"]
["Paraspinal muscle hypertrophy","HP:0012894"]
["Scapular muscle hypertrophy","HP:0012895"]
["Abnormal motor evoked potentials","HP:0012896"]
["Abnormal upper-limb motor evoked potentials","HP:0012897"]
["Abnormal lower-limb motor evoked potentials","HP:0012898"]
["Handgrip myotonia","HP:0012899"]
["Myotonia of the face","HP:0012900"]
["Myotonia of the jaw","HP:0012901"]
["Myotonia of the lower limb","HP:0012902"]
["Myotonia of the upper limb","HP:0012903"]
["Cold-sensitive myotonia","HP:0012904"]
["Euryblepharon","HP:0012905"]
["Ciliary body coloboma","HP:0020006"]
["Diffuse","HP:0020034"]
["Lower limb dysmetria","HP:0020035"]
["Upper limb dysmetria","HP:0020036"]
["Astasia","HP:0020037"]
["Vertebrobasilar dolichoectasia","HP:0020038"]
["Double elevator palsy","HP:0020041"]
["Double depressor palsy","HP:0020042"]
["Vertical incomitant strabismus","HP:0020043"]
["Horizontal incomitant strabismus","HP:0020044"]
["Esodeviation","HP:0020045"]
["Accommodative esotropia","HP:0020046"]
["Abnormal myeloid cell morphology","HP:0020047"]
["Reduced bone-marrow pro-B cell count","HP:0020048"]
["Exodeviation","HP:0020049"]
["Anti-granulocyte-macrophage colony stimulating factor antibody positivity","HP:0020050"]
["Abnormal erythrocyte physiology","HP:0020054"]
["Abnormal red blood cell count","HP:0020058"]
["Increased red blood cell count","HP:0020059"]
["Decreased red blood cell count","HP:0020060"]
["Abnormal hemoglobin concentration","HP:0020061"]
["Decreased hemoglobin concentration","HP:0020062"]
["Increased hemoglobin concentration","HP:0020063"]
["Abnormal eosinophil count","HP:0020064"]
["Viremia","HP:0020071"]
["Persistent EBV viremia","HP:0020072"]
["Hypopigmented macule","HP:0020073"]
["Crystalluria","HP:0020074"]
["Leucine crystalluria","HP:0020075"]
["Wrist ganglion","HP:0020076"]
["Carnitinuria","HP:0020077"]
["Alaninuria","HP:0020078"]
["Beta-alaninuria","HP:0020079"]
["Erythrocyte inclusion bodies","HP:0020080"]
["Pappenheimer bodies","HP:0020081"]
["Heinz bodies","HP:0020082"]
["Furuncle","HP:0020083"]
["Carbuncle","HP:0020084"]
["Infection following live vaccination","HP:0020085"]
["BCGitis","HP:0020086"]
["BCGosis","HP:0020087"]
["Post-vaccination measles","HP:0020088"]
["Post-vaccination rubella","HP:0020089"]
["Post-vaccination polio","HP:0020090"]
["Post-vaccination rotavirus infection","HP:0020091"]
["Recurrent deep organ abscess formation","HP:0020093"]
["Prolonged need of intravenous antibiotic therapy","HP:0020095"]
["Recurrent streptococcal infections","HP:0020096"]
["Infection due to encapsulated bacteria","HP:0020097"]
["Herpes encephalitis","HP:0020098"]
["Severe norovirus infection","HP:0020099"]
["Unusual fungal infection","HP:0020100"]
["Invasive fungal infection","HP:0020101"]
["Pneumocystis jirovecii pneumonia","HP:0020102"]
["Invasive pulmonary aspergillosis","HP:0020103"]
["Unusual protozoan infection","HP:0020104"]
["Severe toxoplasmosis","HP:0020105"]
["Severe giardiasis","HP:0020106"]
["Unusual helminthic infection","HP:0020107"]
["Unusual parasitic infection","HP:0020108"]
["Bone fracture","HP:0020110"]
["Abnormal CD4+CD25+ regulatory T cell proportion","HP:0020111"]
["Increased proportion of CD4+CD25+ regulatory T cells","HP:0020112"]
["Decreased proportion of CD4+CD25+ regulatory T cells","HP:0020113"]
["Persistent human papillomavirus infection","HP:0020114"]
["Hypoplastic dermoepidermal hemidesmosomes","HP:0020117"]
["Radial artery aplasia","HP:0020118"]
["Abnormal retinal nerve fiber layer morphology","HP:0020119"]
["Retinal nerve fiber edema","HP:0020120"]
["Conception by assisted reproductive technology","HP:0020121"]
["Bite cells","HP:0020122"]
["Tympanosclerosis","HP:0020123"]
["Spontaneous conjunctival filtering bleb","HP:0020125"]
["Prostate mass","HP:0020126"]
["Periarticular soft-tissue mass","HP:0020127"]
["Aplasia of the olfactory tract","HP:0020128"]
["Abnormal urine protein level","HP:0020129"]
["Increased urinary neutrophil gelatinase-associated lipocalin","HP:0020130"]
["Abnormal tubular basement membrane morphology","HP:0020131"]
["Thickening of the tubular basement membrane","HP:0020132"]
["Podocyte hypertrophy","HP:0020133"]
["Increased urine neutrophil count","HP:0020134"]
["Myofibromatosis","HP:0020135"]
["Anticardiolipin IgG antibody positivity","HP:0020136"]
["Anticardiolipin IgM antibody positivity","HP:0020137"]
["History of recent animal bite","HP:0020138"]
["History of recent insect bite","HP:0020139"]
["History of recent tick bite","HP:0020140"]
["Blood pressure substantially higher in legs than arms","HP:0020141"]
["Blood pressure substantially higher in arms than legs","HP:0020142"]
["Tracheal duplication cyst","HP:0020143"]
["Calcium phosphate crystalluria","HP:0020144"]
["Calcium oxalate crystalluria","HP:0020145"]
["Calcium carbonate crystalluria","HP:0020146"]
["2-Methylbutyryl glycinuria","HP:0020147"]
["Increased circulating mead acid level","HP:0020148"]
["Elevated circulating succinate","HP:0020149"]
["Elevated urinary uromodulin","HP:0020150"]
["Anti-dsDNA antibody positivity","HP:0020151"]
["Distal joint laxity","HP:0020152"]
["Positive blood 1,3 beta glucan test","HP:0020153"]
["Nevus comedonicus","HP:0020154"]
["Abnormal oocyte morphology","HP:0020155"]
["Abnormal zona pellucida morphology","HP:0020156"]
["Thin zona pellucida","HP:0020157"]
["Increased circulating adrenic acid concentration","HP:0020158"]
["Reduced response to gonadotropin-releasing hormone stimulation test","HP:0020159"]
["GM1-ganglioside accumulation","HP:0020160"]
["Branch retinal artery occlusion","HP:0020161"]
["Cilioretinal artery occlusion","HP:0020163"]
["Ophthalmic artery occlusion","HP:0020164"]
["Branch retinal vein occlusion","HP:0020165"]
["Central retinal vein occlusion","HP:0020166"]
["Hemiretinal vein occlusion","HP:0020167"]
["Abnormal drug response","HP:0020169"]
["Increased blood drug concentration","HP:0020170"]
["Decreased blood drug concentration","HP:0020171"]
["Adverse drug response","HP:0020172"]
["Reduced drug efficacy","HP:0020173"]
["Refractory drug response","HP:0020174"]
["Reduced cholinesterase level","HP:0020175"]
["Cholesterol crystalluria","HP:0020176"]
["Abnormal proportion of CD8-positive, alpha-beta TEMRA T cells","HP:0020177"]
["Abnormal dendritic cell count","HP:0020178"]
["Abnormal haptoglobin level","HP:0020179"]
["Elevated haptoglobin level","HP:0020180"]
["Reduced haptoglobin level","HP:0020181"]
["Abnormal A-type atrial natriuretic peptide level","HP:0020182"]
["Increased circulating A-type natriuretic peptide level","HP:0020183"]
["Decreased circulating A-type natriuretic peptide level","HP:0020184"]
["Superior cerebellar dysplasia","HP:0020185"]
["Multilobulated spleen","HP:0020186"]
["Thick pachygyria","HP:0020187"]
["Anterior predominant pachygyria with 5-10 mm cortical thickness","HP:0020188"]
["Posterior predominant thick cortex pachygyria","HP:0020189"]
["Perisylvian predominant thick cortex pachygyria","HP:0020190"]
["Anterior predominant thick cortex pachygyria","HP:0020191"]
["Pachygyria with 5-10 mm cortical thickness","HP:0020192"]
["Prolonged reptilase time","HP:0020193"]
["IgA heavy chain paraproteinemia","HP:0020194"]
["IgG heavy chain paraproteinemia","HP:0020195"]
["IgM heavy chain paraproteinemia","HP:0020196"]
["Increased circulating arachidonic acid concentration","HP:0020197"]
["Abnormal circulating 18-hydroxycorticosterone level","HP:0020198"]
["Decreased circulating 18-hydroxycortisone level","HP:0020199"]
["Increased circulating 18-hydroxycortisone level","HP:0020200"]
["Abnormal sarcomere morphology","HP:0020201"]
["Abnormal Z disc morphology","HP:0020202"]
["Z-band streaming","HP:0020203"]
["Tubulointerstitial bacterial infiltration","HP:0020204"]
["Tubulointerstitial fungal infiltration","HP:0020205"]
["Simple ear","HP:0020206"]
["Reflex seizure","HP:0020207"]
["Eating-induced seizure","HP:0020208"]
["Hot water-induced seizure","HP:0020209"]
["Praxis-induced seizure","HP:0020210"]
["Proprioceptive-induced seizure","HP:0020211"]
["Reading-induced seizure","HP:0020212"]
["Somatosensory-induced seizure","HP:0020213"]
["Startle-induced seizure","HP:0020214"]
["Thinking-induced seizure","HP:0020215"]
["Visually-induced seizure","HP:0020216"]
["Focal aware motor seizure","HP:0020217"]
["Focal aware atonic seizure","HP:0020218"]
["Motor seizure","HP:0020219"]
["Focal atonic seizure","HP:0020220"]
["Clonic seizure","HP:0020221"]
["Hallux rigidus","HP:0025004"]
["Thickening of glomerular capillary wall","HP:0025005"]
["Abnormal glomerular capillary morphology","HP:0025006"]
["Ectopic fovea","HP:0025007"]
["Tracheal tug on inspiration","HP:0025008"]
["Forward slanting upper incisors","HP:0025009"]
["Foveal atrophy","HP:0025010"]
["Pyriform aperture stenosis","HP:0025011"]
["Status cribrosum","HP:0025012"]
["Decerebrate rigidity","HP:0025013"]
["Subcutaneous spheroids","HP:0025014"]
["Abnormal vascular morphology","HP:0025015"]
["Abnormal capillary morphology","HP:0025016"]
["Capillary fragility","HP:0025017"]
["Abnormal capillary physiology","HP:0025018"]
["Arterial rupture","HP:0025019"]
["Elevated prostate-specific antigen level","HP:0025020"]
["Abnormal erythrocyte sedimentation rate","HP:0025021"]
["Decreased erythrocyte sedimentation rate","HP:0025022"]
["Rectal atresia","HP:0025023"]
["Megarectum","HP:0025024"]
["Rectovestibular fistula","HP:0025025"]
["H-type rectovestibular fistula","HP:0025026"]
["Osteoma cutis","HP:0025027"]
["Abnormality of enteric nervous system morphology","HP:0025028"]
["Abnormality of enteric neuron morphology","HP:0025029"]
["Enteric neuronal degeneration","HP:0025030"]
["Abnormality of the digestive system","HP:0025031"]
["Abnormality of digestive system physiology","HP:0025032"]
["Abnormality of digestive system morphology","HP:0025033"]
["Abnormal morphology of erythroid progenitor cell","HP:0025034"]
["Abnormal proerythroblast morphology","HP:0025035"]
["Hypothalamic gliosis","HP:0025037"]
["Intratesticular abscess","HP:0025038"]
["Basal ganglia edema","HP:0025039"]
["Thalamic edema","HP:0025040"]
["Thalamic calcification","HP:0025041"]
["Abnormality of mesenteric lymph nodes","HP:0025042"]
["Enlarged mesenteric lymph node","HP:0025043"]
["Lung abscess","HP:0025044"]
["Abnormal brain lactate level by MRS","HP:0025045"]
["Reduced brain lactate level by MRS","HP:0025046"]
["Abnormal brain choline level by MRS","HP:0025047"]
["Reduced brain choline level by MRS","HP:0025048"]
["Abnormal brain creatine level by MRS","HP:0025049"]
["Elevated brain creatine level by MRS","HP:0025050"]
["Reduced brain creatine level by MRS","HP:0025051"]
["Abnormal brain N-acetyl aspartate level by MRS","HP:0025052"]
["Elevated brain N-acetyl aspartate level by MRS","HP:0025053"]
["Abnormality of olfactory lobe morphology","HP:0025057"]
["Hypothalamic atrophy","HP:0025058"]
["Splenic abscess","HP:0025059"]
["Multifocal splenic abscess","HP:0025060"]
["Unifocal splenic abscess","HP:0025061"]
["Geophagia","HP:0025062"]
["Scaphoid abdomen","HP:0025063"]
["Thalamic hemorrhage","HP:0025064"]
["Abnormal mean corpuscular volume","HP:0025065"]
["Decreased mean corpuscular volume","HP:0025066"]
["Incomitant strabismus","HP:0025068"]
["Concomitant strabismus","HP:0025069"]
["Abnormal U wave","HP:0025070"]
["U wave inversion","HP:0025071"]
["Prominent U wave","HP:0025072"]
["Exercise-induced U wave inversion","HP:0025073"]
["Abnormal QRS complex","HP:0025074"]
["Increased QRS voltage","HP:0025075"]
["Abnormal QRS voltage","HP:0025076"]
["Decreased QRS voltage","HP:0025077"]
["Electrical alternans","HP:0025078"]
["Pancreatic abscess","HP:0025079"]
["Orthokeratotic hyperkeratosis","HP:0025080"]
["Darier's sign","HP:0025081"]
["Abnormal cutaneous elastic fiber morphology","HP:0025082"]
["Elevated dermal desmosine content","HP:0025083"]
["Folliculitis","HP:0025084"]
["Bloody diarrhea","HP:0025085"]
["Bloody mucoid diarrhea","HP:0025086"]
["Delayed recoil upon stretching of skin","HP:0025087"]
["Onychomadesis","HP:0025088"]
["Feculent vomiting","HP:0025089"]
["Abnormal large intestinal mucosa morphology","HP:0025090"]
["Epidermal acanthosis","HP:0025092"]
["Peripapillary exudate","HP:0025093"]
["Disciform macular scar","HP:0025094"]
["Sneeze","HP:0025095"]
["Paroxysmal sneezing","HP:0025096"]
["Eyelid myoclonus","HP:0025097"]
["Dysgenesis of the hypothalamus","HP:0025098"]
["Dysgenesis of the thalamus","HP:0025099"]
["Abnormal hippocampus morphology","HP:0025100"]
["Dysgenesis of the hippocampus","HP:0025101"]
["Dysgenesis of the basal ganglia","HP:0025102"]
["Umbilicated nodule","HP:0025103"]
["Capillary malformation","HP:0025104"]
["Nevus anemicus","HP:0025105"]
["Nevus roseus","HP:0025106"]
["Cutis marmorata telangiectatica congenita","HP:0025107"]
["Angioma serpentinum","HP:0025108"]
["Reduced red cell pyruvate kinase level","HP:0025109"]
["Placoid macular lesion","HP:0025110"]
["Sound sensitivity","HP:0025112"]
["Misophonia","HP:0025113"]
["Hypergranulosis","HP:0025114"]
["Civatte bodies","HP:0025115"]
["Fetal distress","HP:0025116"]
["Rete ridge flattening","HP:0025117"]
["Lip discoloration","HP:0025118"]
["Violet lip discoloration","HP:0025119"]
["obsolete Simple partial occipital seizures","HP:0025121"]
["Sawtooth acanthosis","HP:0025122"]
["White streaks/specks on enamel.","HP:0025123"]
["Fragile teeth","HP:0025124"]
["White lesion of the oral mucosa","HP:0025125"]
["Oral hairy leukoplakia","HP:0025126"]
["Actinic keratosis","HP:0025127"]
["Reduced intraabdominal adipose tissue","HP:0025128"]
["Abnormal small intestinal mucosa morphology","HP:0025129"]
["Decreased small intestinal mucosa lactase level","HP:0025130"]
["Finger swelling","HP:0025131"]
["Abnormal circulating estrogen level","HP:0025132"]
["Abnormal serum estradiol","HP:0025133"]
["Increased serum estradiol","HP:0025134"]
["Abnormal serum estriol","HP:0025135"]
["Increased serum estriol","HP:0025136"]
["Decreased serum estriol","HP:0025137"]
["Abnormal serum estrone","HP:0025138"]
["Increased serum estrone","HP:0025139"]
["Decreased serum estrone","HP:0025140"]
["Gingival calcification","HP:0025141"]
["Constitutional symptom","HP:0025142"]
["Chills","HP:0025143"]
["Shivering","HP:0025144"]
["Rigors","HP:0025145"]
["Foveal degeneration","HP:0025146"]
["Beaten bronze macular sheen","HP:0025147"]
["Dark choroid","HP:0025148"]
["Atrophic muscularis propria","HP:0025149"]
["Hypoganglionosis","HP:0025150"]
["Ganglioneuromatosis","HP:0025151"]
["Poor visual behavior for age","HP:0025152"]
["Transient","HP:0025153"]
["Portosystemic collateral veins","HP:0025154"]
["Abnormality of hepatobiliary system physiology","HP:0025155"]
["Dependency on intravenous nutrition","HP:0025156"]
["Increased urinary sedoheptulose","HP:0025157"]
["Hyperautofluorescent retinal lesion","HP:0025158"]
["Hypoautofluorescent retinal lesion","HP:0025159"]
["Abnormal temper tantrums","HP:0025160"]
["Frequent temper tantrums","HP:0025161"]
["Severe temper tantrums","HP:0025162"]
["Abnormality of optic chiasm morphology","HP:0025163"]
["Increased number of elastic fibers in the dermis","HP:0025164"]
["Clumping of elastic fibers in the dermis","HP:0025165"]
["Thickened elastic fibers in the dermis","HP:0025166"]
["Fragmented elastic fibers in the dermis","HP:0025167"]
["Left ventricular diastolic dysfunction","HP:0025168"]
["Left ventricular systolic dysfunction","HP:0025169"]
["Neuronal/glioneuronal neoplasm of the central nervous system","HP:0025170"]
["Rosette-forming glioneuronal tumor","HP:0025171"]
["Smooth septal thickening on pulmonary HRCT","HP:0025172"]
["Nodular septal thickening on pulmonary HRCT","HP:0025173"]
["Irregular septal thickening on pulmonary HRCT","HP:0025174"]
["Honeycomb lung","HP:0025175"]
["Intralobular interstitial thickening","HP:0025176"]
["Peribronchovascular interstitial thickening","HP:0025177"]
["Subpleural interstitial thickening","HP:0025178"]
["Ground-glass opacification","HP:0025179"]
["Centrilobular ground-glass opacification on pulmonary HRCT","HP:0025180"]
["Abdominal aseptic abscess","HP:0025181"]
["Localized area of pendulous skin","HP:0025182"]
["Marcus Gunn jaw winking synkinesis","HP:0025186"]
["Retinal vasculitis","HP:0025188"]
["Bilateral tonic-clonic seizure with generalized onset","HP:0025190"]
["obsolete Segmental myoclonic seizures","HP:0025191"]
["Subtentorial periventricular white matter hyperdensity","HP:0025192"]
["Posterolateral diaphragmatic hernia","HP:0025193"]
["Morgagni diaphragmatic hernia","HP:0025194"]
["Central diaphragmatic hernia","HP:0025195"]
["Increased total iron binding capacity","HP:0025196"]
["Inclusion body fibromatosis","HP:0025197"]
["Inflammatory cap polyp","HP:0025198"]
["Muscle fiber actin filament accumulation","HP:0025200"]
["Abnormal circulating apolipoprotein concentration","HP:0025201"]
["Elevated circulating apolipoprotein A-IV concentration","HP:0025202"]
["Caput medusae","HP:0025203"]
["Triggered by","HP:0025204"]
["Triggered by breast feeding","HP:0025205"]
["Triggered by cold","HP:0025206"]
["Triggered by dehydration","HP:0025207"]
["Triggered by carbohydrate ingestion","HP:0025208"]
["Triggered by fructose ingestion","HP:0025209"]
["Triggered by glucose ingestion","HP:0025210"]
["Triggered by ethanol ingestion","HP:0025211"]
["Triggered by fasting","HP:0025212"]
["Triggered by galactose ingestion","HP:0025213"]
["Triggered by heat","HP:0025214"]
["Triggered by febrile illness","HP:0025215"]
["Triggered by heavy meal","HP:0025216"]
["Triggered by high-fat diet","HP:0025217"]
["Triggered by hyperventilation","HP:0025218"]
["Triggered by vaccination","HP:0025219"]
["Triggered by menstruation","HP:0025220"]
["Triggered by pregnancy","HP:0025221"]
["Triggered by sleep deprivation","HP:0025222"]
["Triggered by smoking","HP:0025223"]
["Triggered by sodium ingestion","HP:0025224"]
["Triggered by sound","HP:0025225"]
["Triggered by stress","HP:0025226"]
["Triggered by excitement","HP:0025227"]
["Triggered by sudden movement","HP:0025228"]
["Triggered by vestibular stimulation","HP:0025229"]
["Tendonitis","HP:0025230"]
["Abnormality of synovial bursa morphology","HP:0025231"]
["Bursitis","HP:0025232"]
["Sleep paralysis","HP:0025233"]
["Parasomnia","HP:0025234"]
["Non-rapid eye movement parasomnia","HP:0025235"]
["Somnambulism","HP:0025236"]
["Confusional arousal","HP:0025237"]
["Foot pain","HP:0025238"]
["Subhyaloid hemorrhage","HP:0025239"]
["Preretinal hemorrhage","HP:0025240"]
["Flame-shaped retinal hemorrhage","HP:0025241"]
["Dot-and-blot retinal hemorrhage","HP:0025242"]
["Subretinal hemorrhage","HP:0025243"]
["Subretinal pigment epithelium hemorrhage","HP:0025244"]
["Cutaneous cyst","HP:0025245"]
["Trichilemmal cyst","HP:0025246"]
["Dermoid cyst","HP:0025247"]
["Eruptive vellus hair cyst","HP:0025248"]
["Comedo","HP:0025249"]
["Closed comedo","HP:0025250"]
["Open comedo","HP:0025251"]
["Geographic tongue","HP:0025252"]
["Claustrophobia","HP:0025253"]
["Ameliorated by","HP:0025254"]
["Ameliorated by pregnancy","HP:0025255"]
["Ameliorated by heat","HP:0025256"]
["Ameliorated by carbohydrate ingestion","HP:0025257"]
["Stiff neck","HP:0025258"]
["Stiff elbow","HP:0025259"]
["Stiff wrist","HP:0025260"]
["Stiff finger","HP:0025261"]
["Stiff hip","HP:0025262"]
["Stiff knee","HP:0025263"]
["Stiff ankle","HP:0025264"]
["Stiff toe","HP:0025265"]
["Cervical osteoarthritis","HP:0025266"]
["Snoring","HP:0025267"]
["Stuttering","HP:0025268"]
["Panic attack","HP:0025269"]
["Abnormality of esophagus physiology","HP:0025270"]
["Esophageal spasms","HP:0025271"]
["Melasma","HP:0025272"]
["Achilles tendonitis","HP:0025273"]
["Ovarian dermoid cyst","HP:0025274"]
["Lateral","HP:0025275"]
["Abnormality of skin adnexa physiology","HP:0025276"]
["Gustatory sweating","HP:0025277"]
["Cold-induced sweating","HP:0025278"]
["Migratory","HP:0025279"]
["Pain characteristic","HP:0025280"]
["Sharp","HP:0025281"]
["Dull","HP:0025282"]
["Tender","HP:0025283"]
["Sleep-interrupting","HP:0025284"]
["Aggravated by","HP:0025285"]
["Aggravated by activity","HP:0025286"]
["Axial","HP:0025287"]
["Cervical lymphadenopathy","HP:0025289"]
["Upper-body predominance","HP:0025290"]
["Lower-body predominance","HP:0025291"]
["Acral","HP:0025292"]
["Distributed along Blaschko lines","HP:0025293"]
["Dermatomal","HP:0025294"]
["Herpetiform","HP:0025295"]
["Morbilliform","HP:0025296"]
["Prolonged","HP:0025297"]
["Malar rash","HP:0025300"]
["Nocturnal","HP:0025301"]
["Diurnal","HP:0025302"]
["Episodic","HP:0025303"]
["Periodic","HP:0025304"]
["Quotidian","HP:0025305"]
["Acute emergence over minutes","HP:0025306"]
["Acute emergence over hours","HP:0025307"]
["Acute emergence over days","HP:0025308"]
["Abnormal pupil shape","HP:0025309"]
["Oval pupil","HP:0025310"]
["Anterior chamber cyst","HP:0025311"]
["Esophoria","HP:0025312"]
["Exophoria","HP:0025313"]
["Choroidal nevus","HP:0025314"]
["Exacerbated by head trauma","HP:0025315"]
["Cubitus varus","HP:0025317"]
["Ovarian carcinoma","HP:0025318"]
["Rubeosis iridis","HP:0025319"]
["Leakage of dye on fundus fluorescein angiography","HP:0025320"]
["Copper accumulation in liver","HP:0025321"]
["Venous occlusion","HP:0025322"]
["Abnormal arterial physiology","HP:0025323"]
["Arterial occlusion","HP:0025324"]
["Sparse medial eyebrow","HP:0025325"]
["Retinal arterial occlusion","HP:0025326"]
["Decreased renal parenchymal thickness","HP:0025327"]
["Antepartum hemorrhage","HP:0025328"]
["Anti-glutamic acid decarboxylase antibody positivity","HP:0025329"]
["Downgaze palsy","HP:0025330"]
["Upgaze palsy","HP:0025331"]
["Abnormality of foot cortical bone","HP:0025332"]
["Cortical thinning of foot bones","HP:0025333"]
["Triggered by emotion","HP:0025334"]
["Delayed ability to stand","HP:0025335"]
["Delayed ability to sit","HP:0025336"]
["Red eye","HP:0025337"]
["Circumlimbal hyperemia","HP:0025338"]
["Superficial episcleral hyperemia","HP:0025339"]
["Deep episcleral hyperemia","HP:0025340"]
["Corneal keratic precipitates","HP:0025341"]
["Central retinal artery occlusion","HP:0025342"]
["Lupus anticoagulant","HP:0025343"]
["Interlobular bile duct destruction","HP:0025344"]
["Abnormality of circulating beta-2-microglobulin level","HP:0025345"]
["Increased circulating beta-2-microglobulin level","HP:0025346"]
["Decreased circulating beta-2-microglobulin level","HP:0025347"]
["Abnormality of the corneal limbus","HP:0025348"]
["Limbal edema","HP:0025349"]
["Giant conjunctival papillae","HP:0025350"]
["Recurrent interdigital mycosis","HP:0025351"]
["Autosomal dominant germline de novo mutation","HP:0025352"]
["Anti-multiple nuclear dots antibody positivity","HP:0025353"]
["Abnormal cellular phenotype","HP:0025354"]
["Retinal arterial macroaneurysms","HP:0025355"]
["Psychomotor retardation","HP:0025356"]
["Erratic myoclonus","HP:0025357"]
["Uveal ectropion","HP:0025358"]
["Polygonal renal calices","HP:0025359"]
["Polycalycosis","HP:0025360"]
["Abnormality of medullary pyramid morphology","HP:0025361"]
["Renal medullary pyramid hypoplasia","HP:0025362"]
["Glomerular endocapillary hypercellularity","HP:0025363"]
["Glomerular extracapillary hypercellularity","HP:0025364"]
["Trichoepithelioma","HP:0025367"]
["Abnormality of growth plate morphology","HP:0025368"]
["Thick growth plates","HP:0025369"]
["Abnormal ossification of the sacrum","HP:0025370"]
["Delayed ossification of the sacrum","HP:0025371"]
["Loud snoring","HP:0025372"]
["Interictal EEG abnormality","HP:0025373"]
["Duplicated odontoid process","HP:0025374"]
["Orthotopic os odontoideum","HP:0025375"]
["Hyperglutaminuria","HP:0025376"]
["Triggered by exertion","HP:0025377"]
["Anti-thyroid peroxidase antibody positivity","HP:0025379"]
["Increased circulating androstenedione concentration","HP:0025380"]
["Anti-pituitary antibody positivity","HP:0025381"]
["Hypodipsia","HP:0025382"]
["Dorsocervical fat pad","HP:0025383"]
["Diet-resistant subcutaneous adipose tissue","HP:0025384"]
["Diet-resistant subcutaneous adipose tissue below waist","HP:0025385"]
["Bitemporal hollowing","HP:0025386"]
["Pill-rolling tremor","HP:0025387"]
["Thyroid nodule","HP:0025388"]
["Pulmonary interstitial high-resolution computed tomography abnormality","HP:0025389"]
["Reticular pattern on pulmonary HRCT","HP:0025390"]
["Crazy paving pattern","HP:0025391"]
["Nodular pattern on pulmonary HRCT","HP:0025392"]
["Reticulonodular pattern on pulmonary HRCT","HP:0025393"]
["Cystic pattern on pulmonary HRCT","HP:0025394"]
["Combined cystic and ground-glass pattern on pulmonary HRCT","HP:0025395"]
["Decreased attenuation pattern on pulmonary HRCT","HP:0025396"]
["Mosaic attenuation pattern on pulmonary HRCT","HP:0025397"]
["Nodular-perilymphatic pattern on pulmonary HRCT","HP:0025398"]
["Nodular-centrilobular with tree-in-bud pattern on pulmonary HRCT","HP:0025399"]
["Nodular-random pattern on pulmonary HRCT","HP:0025400"]
["Staring gaze","HP:0025401"]
["Square-wave jerks","HP:0025402"]
["Stooped posture","HP:0025403"]
["Abnormal visual fixation","HP:0025404"]
["Visual fixation instability","HP:0025405"]
["Asthenia","HP:0025406"]
["Rectourethral fistula","HP:0025407"]
["Abnormal spleen morphology","HP:0025408"]
["Abnormal spleen physiology","HP:0025409"]
["Splenogonadal fusion","HP:0025410"]
["Fossa navicularis urethral stricture","HP:0025413"]
["Pendulous urethral stricture","HP:0025414"]
["Bulbar urethral stricture","HP:0025415"]
["Vaginal stricture","HP:0025416"]
["Patulous urethra","HP:0025417"]
["Renal cortical necrosis","HP:0025418"]
["Pulmonary pneumatocele","HP:0025419"]
["Diffuse alveolar hemorrhage","HP:0025420"]
["Pneumomediastinum","HP:0025421"]
["Pleural cyst","HP:0025422"]
["Abnormal larynx morphology","HP:0025423"]
["Abnormal larynx physiology","HP:0025424"]
["Laryngospasm","HP:0025425"]
["Abnormal bronchus morphology","HP:0025426"]
["Abnormal bronchus physiology","HP:0025427"]
["Bronchospasm","HP:0025428"]
["Abnormal cry","HP:0025429"]
["High-pitched cry","HP:0025430"]
["Staccato cry","HP:0025431"]
["Acanthoma","HP:0025432"]
["Decreased lecithin cholesterol acyl transferase level","HP:0025433"]
["Reduced hemolytic complement activity","HP:0025434"]
["Increased circulating lactate dehydrogenase concentration","HP:0025435"]
["Elevated serum 11-deoxycortisol","HP:0025436"]
["Macrocephalic sperm head","HP:0025437"]
["Pharyngitis","HP:0025439"]
["Warm reactive autoantibody positivity","HP:0025440"]
["Achilles tendon calcification","HP:0025441"]
["Abnormal cardiac atrial physiology","HP:0025443"]
["Reduced amygdala volume","HP:0025444"]
["Morphological abnormality of the papillary muscles","HP:0025445"]
["Anomalous insertion of papillary muscle directly into anterior mitral leaflet","HP:0025446"]
["Displacement of the papillary muscles","HP:0025447"]
["Anterior displacement of the papillary muscles","HP:0025448"]
["Apically displaced anterolateral papillary muscle","HP:0025449"]
["Testicular adrenal rest tumor","HP:0025451"]
["Pyoderma gangrenosum","HP:0025452"]
["Delayed adrenarche","HP:0025453"]
["Abnormal CSF metabolite level","HP:0025454"]
["Decreased CSF 5-hydroxyindolacetic acid","HP:0025455"]
["Abnormal CSF protein level","HP:0025456"]
["Decreased CSF protein","HP:0025457"]
["Decreased CSF albumin concentration","HP:0025458"]
["Increased CSF/serum albumin ratio","HP:0025459"]
["High myoinositol in brain by MRS","HP:0025460"]
["Abnormal cell morphology","HP:0025461"]
["obsolete Abnormal cellular physiology","HP:0025462"]
["Abnormality of redox activity","HP:0025463"]
["Increased reactive oxygen species production","HP:0025464"]
["Abnormal circulating beta globulin level","HP:0025465"]
["Beta 2-microglobulinuria","HP:0025466"]
["Anagen effluvium","HP:0025469"]
["Telogen effluvium","HP:0025470"]
["Congenital panfollicular nevus","HP:0025471"]
["Recurrent plantar mycosis","HP:0025472"]
["Hyperpigmented papule","HP:0025473"]
["Erythematous plaque","HP:0025474"]
["Erythematous macule","HP:0025475"]
["Testicular lipomatosis","HP:0025476"]
["Periarticular calcification","HP:0025477"]
["Atrial standstill","HP:0025478"]
["Self-neglect","HP:0025479"]
["Lipomyelomeningocele","HP:0025480"]
["Cervical hemivertebrae","HP:0025481"]
["Positive perchlorate discharge test","HP:0025482"]
["Abnormal circulating thyroglobulin level","HP:0025483"]
["Increased circulating thyroglobulin level","HP:0025484"]
["Vaginal adenosis","HP:0025485"]
["Fused labia majora","HP:0025486"]
["Abnormality of bladder morphology","HP:0025487"]
["Detrusor sphincter dyssynergia","HP:0025488"]
["Bladder duplication","HP:0025489"]
["Myocardial bridging","HP:0025490"]
["Venous stenosis","HP:0025491"]
["Microcoria","HP:0025492"]
["Palmoplantar erythema","HP:0025493"]
["Coated aorta","HP:0025494"]
["Descending aorta hypoplasia","HP:0025495"]
["Abnormal coronary artery physiology","HP:0025496"]
["Coronary artery spasm","HP:0025497"]
["Aceruloplasminemia","HP:0025498"]
["Class I obesity","HP:0025499"]
["Class II obesity","HP:0025500"]
["Class III obesity","HP:0025501"]
["Overweight","HP:0025502"]
["Anomalous coronary artery arising from the opposite sinus","HP:0025503"]
["Anomalous origin of the circumflex artery from the right sinus of Valsalva","HP:0025505"]
["Coronary artery sandwich anomaly","HP:0025506"]
["Yellow papule","HP:0025507"]
["Gottron's papules","HP:0025508"]
["Piezogenic pedal papules","HP:0025509"]
["Nevus spilus","HP:0025510"]
["Nevus sebaceus","HP:0025511"]
["Skin-colored papule","HP:0025512"]
["Scleral rupture","HP:0025513"]
["Morning glory anomaly","HP:0025514"]
["Delayed thelarche","HP:0025515"]
["Coronary-pulmonary artery fistula","HP:0025516"]
["Hypoplastic hippocampus","HP:0025517"]
["Visual gaze preference","HP:0025518"]
["Multiple biliary hamartomas","HP:0025519"]
["Calcinosis cutis","HP:0025520"]
["Increased body fat percentage","HP:0025521"]
["Elongated chordae tendinae of the mitral valve","HP:0025522"]
["Abnormal morphology of the chordae tendinae of the mitral valve","HP:0025523"]
["Palmoplantar scaling skin","HP:0025524"]
["Scaling skin on fingertip","HP:0025525"]
["Psoriasiform lesion","HP:0025526"]
["Serpiginous cutaneous lesion","HP:0025527"]
["Annular cutaneous lesion","HP:0025528"]
["Hyperpigmented nodule","HP:0025529"]
["Xanthomas of the palmar creases","HP:0025530"]
["Harlequin phenomenon","HP:0025531"]
["Positive pathergy test","HP:0025532"]
["Peau d'orange","HP:0025533"]
["Ocular melanocytosis","HP:0025534"]
["Shawl sign","HP:0025535"]
["V-sign","HP:0025536"]
["Plantar edema","HP:0025537"]
["Palmar edema","HP:0025538"]
["Abnormal B cell subset distribution","HP:0025539"]
["Abnormal T cell subset distribution","HP:0025540"]
["obsolete Decreased activity of complement receptor","HP:0025541"]
["Abnormal mean corpuscular hemoglobin concentration","HP:0025546"]
["Decreased mean corpuscular hemoglobin concentration","HP:0025547"]
["Increased mean corpuscular hemoglobin concentration","HP:0025548"]
["Eccentric visual fixation","HP:0025549"]
["Elevated circulating ribitol concentration","HP:0025550"]
["Optic nerve misrouting","HP:0025551"]
["Periorbital purpura","HP:0025552"]
["Periorbital ecchymosis with tarsal plate sparing","HP:0025553"]
["Yellow nodule","HP:0025554"]
["Periungual teleangiectasia","HP:0025555"]
["Lamellar cataract with riders","HP:0025558"]
["Coronary cataract","HP:0025559"]
["Anterior chamber cells","HP:0025560"]
["Anterior chamber cells grade 1+","HP:0025561"]
["Anterior chamber cells grade 0.5+","HP:0025562"]
["Anterior chamber cells grade 0","HP:0025563"]
["Anterior chamber cells grade 2+","HP:0025564"]
["Anterior chamber cells grade 3+","HP:0025565"]
["Anterior chamber cells grade 4+","HP:0025566"]
["Central serous chorioretinopathy","HP:0025567"]
["Abnormal morphology of the choroidal vasculature","HP:0025568"]
["Polypoidal choroidal vasculopathy","HP:0025569"]
["Choroidal vascular hyperpermeability","HP:0025570"]
["Christmas tree cataract","HP:0025571"]
["Punctal stenosis","HP:0025572"]
["Mild myopia","HP:0025573"]
["Macular hemorrhage","HP:0025574"]
["Abnormal superior vena cava morphology","HP:0025575"]
["Abnormal inferior vena cava morphology","HP:0025576"]
["Aortic valve prolapse","HP:0025578"]
["Abnormal left atrium morphology","HP:0025579"]
["Abnormal right atrium morphology","HP:0025580"]
["Foveal hemorrhage","HP:0025581"]
["Submacular hemorrhage","HP:0025582"]
["Tapetal-like fundal reflex","HP:0025583"]
["Hypotropia","HP:0025584"]
["Hyperphoria","HP:0025585"]
["Hypertropia","HP:0025586"]
["Hyperdeviation","HP:0025587"]
["Hypodeviation","HP:0025588"]
["Cyclodeviation","HP:0025589"]
["Abnormal extraocular muscle physiology","HP:0025590"]
["Abnormal superior oblique muscle physiology","HP:0025591"]
["Superior oblique muscle weakness","HP:0025592"]
["Superior oblique muscle restriction","HP:0025593"]
["Superior oblique muscle overaction","HP:0025594"]
["Superior oblique muscle underaction","HP:0025595"]
["Abnormal inferior oblique muscle physiology","HP:0025596"]
["Inferior oblique muscle restriction","HP:0025597"]
["Inferior oblique muscle weakness","HP:0025598"]
["Inferior oblique muscle overaction","HP:0025599"]
["Abnormal inferior rectus muscle physiology","HP:0025600"]
["Inferior rectus muscle weakness","HP:0025601"]
["Inferior rectus muscle restriction","HP:0025602"]
["Abnormal superior rectus muscle physiology","HP:0025603"]
["Orbital schwannoma","HP:0025604"]
["Lid lag on downgaze","HP:0025605"]
["Abnormal medial rectus muscle physiology","HP:0025606"]
["Upper eyelid entropion","HP:0025607"]
["Cicatricial ectropion","HP:0025608"]
["Anterior blepharitis","HP:0025609"]
["Posterior blepharitis","HP:0025610"]
["Epicanthus superciliaris","HP:0025611"]
["Corneal astigmatism","HP:0025612"]
["Focal emotional seizure","HP:0025613"]
["Abscess","HP:0025615"]
["Sterile abscess","HP:0025616"]
["Abnormal plasma cell count","HP:0025617"]
["Reduced plasma cell count","HP:0025618"]
["Elevated plasma cell count","HP:0025619"]
["Abnormal proportion of CD4+ central memory cells","HP:0025620"]
["obsolete Increased proportion of CD4+ central memory cells","HP:0025621"]
["obsolete Decreased proportion of CD4+ central memory cells","HP:0025622"]
["Abnormal proportion of CD4+ effector memory cells","HP:0025623"]
["Reduced proportion of CD4+ effector memory T cells","HP:0025624"]
["Elevated proportion of CD4+ effector memory T cells","HP:0025625"]
["Increased circulating oleate level","HP:0025626"]
["Increased circulating octadecanoate level","HP:0025627"]
["Increased circulating myristoleate level","HP:0025628"]
["Anti-myelin-associated glycoprotein antibody positivity","HP:0025629"]
["Argininosuccinic aciduria","HP:0025630"]
["Alpha-aminobutyric aciduria","HP:0025631"]
["Reduced reactive oxygen species production in neutrophils","HP:0025632"]
["Abnormal ureter morphology","HP:0025633"]
["Abnormal ureter physiology","HP:0025634"]
["Ureteral polyp","HP:0025635"]
["Endometritis","HP:0025636"]
["Vasospasm","HP:0025637"]
["Elevated urinary N-butyrylglycine","HP:0025638"]
["Increased urinary zinc level","HP:0025639"]
["Abnormal urinary mineral level","HP:0025640"]
["Elevated circulating glycolate concentration","HP:0025641"]
["Tarlov cyst","HP:0025643"]
["Fixation-off epileptiform discharges","HP:0025644"]
["Bilateral polymicrogyria","HP:0025646"]
["Steroid-sensitive nephrotic syndrome","HP:0025647"]
["Steroid-sensitive nephrotic syndrome with infrequent relapses","HP:0025648"]
["Steroid-sensitive nephrotic syndrome with frequent relapses","HP:0025649"]
["Steroid-dependent nephrotic syndrome","HP:0025650"]
["EMG: repetitive nerve stimulation abnormality","HP:0030000"]
["Lagopthalmos","HP:0030001"]
["Nocturnal lagophthalmos","HP:0030002"]
["Paralytic lagophthalmos","HP:0030003"]
["Cicatricial lagophthalmos","HP:0030004"]
["Capillary leak","HP:0030005"]
["Single fiber EMG abnormality","HP:0030006"]
["EMG: positive sharp waves","HP:0030007"]
["Cervical agenesis","HP:0030008"]
["Cervical insufficiency","HP:0030009"]
["Hydrometrocolpos","HP:0030010"]
["Imperforate hymen","HP:0030011"]
["Abnormal female reproductive system physiology","HP:0030012"]
["obsolete Endometriosis","HP:0030013"]
["Female sexual dysfunction","HP:0030014"]
["Female anorgasmia","HP:0030015"]
["Dyspareunia","HP:0030016"]
["Vaginismus","HP:0030017"]
["Decreased female libido","HP:0030018"]
["Increased female libido","HP:0030019"]
["Auricular tag","HP:0030021"]
["Question mark ear","HP:0030022"]
["Quelprud nodule","HP:0030023"]
["Pretragal ectopia","HP:0030024"]
["Auricular pit","HP:0030025"]
["Squared superior portion of helix","HP:0030026"]
["Abnormality of the nasal cartilage","HP:0030027"]
["Absent nasal cartilage","HP:0030028"]
["Splayed fingers","HP:0030029"]
["Absent ray","HP:0030030"]
["Small toe","HP:0030031"]
["Partial absence of foot","HP:0030032"]
["Small finger","HP:0030033"]
["Glomerular basement membrane lamellation","HP:0030034"]
["Struvite nephrolithiasis","HP:0030035"]
["Isothenuria","HP:0030036"]
["Bifid ureter","HP:0030037"]
["Enchondroma","HP:0030038"]
["Fused thoracic vertebrae","HP:0030039"]
["Fused lumbar vertebrae","HP:0030040"]
["Schmorl's node","HP:0030041"]
["Incomplete ossification of pubis","HP:0030042"]
["Hip subluxation","HP:0030043"]
["Flexion contracture of digit","HP:0030044"]
["Serpentine fibula","HP:0030045"]
["Hypoglycosylation of alpha-dystroglycan","HP:0030046"]
["Abnormal lateral ventricle morphology","HP:0030047"]
["Colpocephaly","HP:0030048"]
["Brain abscess","HP:0030049"]
["Narcolepsy","HP:0030050"]
["Tip-toe gait","HP:0030051"]
["Inguinal freckling","HP:0030052"]
["Stiff skin","HP:0030053"]
["Perifollicular fibrosis","HP:0030054"]
["Hyperconvex toenail","HP:0030055"]
["Uncombable hair","HP:0030056"]
["Autoimmune antibody positivity","HP:0030057"]
["Sickled erythrocytes","HP:0030058"]
["Mitochondrial depletion","HP:0030059"]
["Nervous tissue neoplasm","HP:0030060"]
["Neuroectodermal neoplasm","HP:0030061"]
["Craniopharyngioma","HP:0030062"]
["Neuroepithelial neoplasm","HP:0030063"]
["Neurocytoma","HP:0030064"]
["Primitive neuroectodermal tumor","HP:0030065"]
["Ependymoblastoma","HP:0030066"]
["Peripheral primitive neuroectodermal neoplasm","HP:0030067"]
["Olfactory esthesioneuroblastoma","HP:0030068"]
["Primary central nervous system lymphoma","HP:0030069"]
["Central primitive neuroectodermal tumor","HP:0030070"]
["Medulloepithelioma","HP:0030071"]
["Paranasal sinus neoplasm","HP:0030072"]
["obsolete Pharyngeal neoplasm","HP:0030073"]
["Chemodectoma","HP:0030074"]
["Ductal carcinoma in situ","HP:0030075"]
["Lobular carcinoma in situ","HP:0030076"]
["Bronchial neoplasm","HP:0030077"]
["Lung adenocarcinoma","HP:0030078"]
["Cervix cancer","HP:0030079"]
["Burkitt lymphoma","HP:0030080"]
["Punctate periventricular T2 hyperintense foci","HP:0030081"]
["Abnormal drinking behavior","HP:0030082"]
["Salt craving","HP:0030083"]
["Clinodactyly","HP:0030084"]
["Abnormal CSF lactate level","HP:0030085"]
["Reduced CSF lactate","HP:0030086"]
["Abnormal circulating testosterone concentration","HP:0030087"]
["Increased serum testosterone level","HP:0030088"]
["Abnormal muscle fiber protein expression","HP:0030089"]
["Abnormal muscle fiber merosin expression","HP:0030090"]
["Absent muscle fiber merosin","HP:0030091"]
["Reduced muscle fiber merosin","HP:0030092"]
["Abnormal muscle fiber laminin beta 1","HP:0030093"]
["Reduced muscle fiber laminin beta 1","HP:0030094"]
["Reduced muscle collagen VI","HP:0030095"]
["Abnormal muscle fiber dystrophin expression","HP:0030096"]
["Absent muscle dystrophin expression","HP:0030097"]
["Reduced muscle dystrophin expression","HP:0030098"]
["Reduced muscle fiber alpha dystroglycan","HP:0030099"]
["Abnormal muscle fiber alpha sarcoglycan","HP:0030100"]
["Absent muscle fiber alpha sarcoglycan","HP:0030101"]
["Reduced muscle fiber alpha sarcoglycan","HP:0030102"]
["Abnormal muscle fiber beta sarcoglycan","HP:0030103"]
["Abnormal muscle fiber gamma sarcoglycan","HP:0030104"]
["Abnormal muscle fiber delta sarcoglycan","HP:0030105"]
["Absent muscle fiber beta sarcoglycan","HP:0030106"]
["Reduced muscle fiber beta sarcoglycan","HP:0030107"]
["Reduced muscle fiber gamma sarcoglycan","HP:0030108"]
["Absent muscle fiber gamma sarcoglycan","HP:0030109"]
["Absent muscle fiber delta sarcoglycan","HP:0030110"]
["Reduced muscle fiber delta sarcoglycan","HP:0030111"]
["Abnormal muscle fiber alpha dystroglycan","HP:0030112"]
["Abnormal muscle fiber dysferlin","HP:0030113"]
["Absent muscle fiber dysferlin","HP:0030114"]
["Reduced muscle fiber dysferlin","HP:0030115"]
["Abnormal muscle fiber emerin","HP:0030116"]
["Absent muscle fiber emerin","HP:0030117"]
["Reduced muscle fiber emerin","HP:0030118"]
["Abnormal muscle fiber calpain-3","HP:0030119"]
["Absent muscle fiber calpain-3","HP:0030120"]
["Reduced muscle fiber calpain-3","HP:0030121"]
["Reduced muscle fiber perlecan","HP:0030122"]
["Abnormal muscle fiber lamin A/C","HP:0030123"]
["Reduced muscle fiber lamin A/C","HP:0030124"]
["Sacralization of the fifth lumbar vertebra","HP:0030125"]
["Abnormality of the endometrium","HP:0030126"]
["Endometriosis","HP:0030127"]
["Impaired ristocetin cofactor assay activity","HP:0030129"]
["Impaired von Willibrand factor collagen binding activity","HP:0030130"]
["Abnormal von Willebrand factor multimer distribution","HP:0030131"]
["Absence of large von Willibrand factor multimers","HP:0030132"]
["Abnormal presence of ultra-large von Willebrand factor multimers","HP:0030133"]
["Total absence von Willebrand factor multimers","HP:0030134"]
["Absence of intermediate von Willibrand factor multimers","HP:0030135"]
["Enhanced ristocetin cofactor assay activity","HP:0030136"]
["Prolonged bleeding following circumcision","HP:0030137"]
["Excessive bleeding from superficial cuts","HP:0030138"]
["Excessive bleeding after a venipuncture","HP:0030139"]
["Oral cavity bleeding","HP:0030140"]
["Abnormality of the posterior hairline","HP:0030141"]
["Abnormal bowel sounds","HP:0030142"]
["Hyperactive bowel sounds","HP:0030143"]
["Hypoactive bowel sounds","HP:0030144"]
["Lack of bowel sounds","HP:0030145"]
["Abnormal liver parenchyma morphology","HP:0030146"]
["Truncal titubation","HP:0030147"]
["Heart murmur","HP:0030148"]
["Cardiogenic shock","HP:0030149"]
["Plasmacytosis","HP:0030150"]
["Cholangitis","HP:0030151"]
["obsolete Biliary tract neoplasm","HP:0030152"]
["Cholangiocarcinoma","HP:0030153"]
["Gallbladder perforation","HP:0030154"]
["Scrotal pain","HP:0030155"]
["Bence Jones Proteinuria","HP:0030156"]
["Flank pain","HP:0030157"]
["Cervical ectropion","HP:0030158"]
["Cervical polyp","HP:0030159"]
["Cervicitis","HP:0030160"]
["Vaginal pruritus","HP:0030161"]
["Glomerulomegaly","HP:0030162"]
["Abnormal vascular physiology","HP:0030163"]
["Jaw claudication","HP:0030164"]
["Temporal artery tortuosity","HP:0030165"]
["Night sweats","HP:0030166"]
["Antimitochondrial antibody positivity","HP:0030167"]
["Dilated superficial abdominal veins","HP:0030168"]
["Gastric varix","HP:0030169"]
["Cystic artery pseudoaneurysm","HP:0030170"]
["Perirenal hematoma","HP:0030171"]
["Peripheral amyelination","HP:0030172"]
["Peripheral hypermyelination","HP:0030173"]
["Increased peripheral myelin thickness","HP:0030174"]
["Myelin tomacula","HP:0030175"]
["Asymmetric peripheral demyelination","HP:0030176"]
["Abnormality of peripheral nervous system electrophysiology","HP:0030177"]
["Abnormality of central nervous system electrophysiology","HP:0030178"]
["Abnormal peripheral action potential amplitude","HP:0030179"]
["Oppenheim reflex","HP:0030180"]
["Gordon reflex","HP:0030181"]
["Tetraplegia/tetraparesis","HP:0030182"]
["Impaired visually enhanced vestibulo-ocular reflex","HP:0030183"]
["Isometric tremor","HP:0030185"]
["Kinetic tremor","HP:0030186"]
["Titubation","HP:0030187"]
["Tremor by anatomical site","HP:0030188"]
["Oral motor hypotonia","HP:0030190"]
["Abnormal peripheral nervous system synaptic transmission","HP:0030191"]
["Fatigable weakness of bulbar muscles","HP:0030192"]
["Fatigable weakness of chewing muscles","HP:0030193"]
["Fatigable weakness of speech muscles","HP:0030194"]
["Fatigable weakness of swallowing muscles","HP:0030195"]
["Fatigable weakness of respiratory muscles","HP:0030196"]
["Fatigable weakness of skeletal muscles","HP:0030197"]
["Fatigable weakness of distal limb muscles","HP:0030198"]
["Fatigable weakness of neck muscles","HP:0030199"]
["Fatiguable weakness of proximal limb muscles","HP:0030200"]
["Response to drugs acting on neuromuscular transmission","HP:0030201"]
["Favorable response of weakness to acetylcholine esterase inhibitors","HP:0030202"]
["Unfavorable response of muscle weakness to acetylcholine esterase inhibitors","HP:0030203"]
["Increased jitter at single fiber EMG","HP:0030205"]
["EMG: incremental response of compound muscle action potential to repetitive nerve stimulation","HP:0030206"]
["Paradoxical respiration","HP:0030207"]
["Acetylcholine receptor antibody positivity","HP:0030208"]
["Calcium channel antibody positivity","HP:0030209"]
["Muscle specific kinase antibody positivity","HP:0030210"]
["Slow pupillary light response","HP:0030211"]
["Collectionism","HP:0030212"]
["Emotional blunting","HP:0030213"]
["Hypersexuality","HP:0030214"]
["Inappropriate crying","HP:0030215"]
["Inertia","HP:0030216"]
["Limb apraxia","HP:0030217"]
["Punding","HP:0030218"]
["Semantic dementia","HP:0030219"]
["Socially inappropriate behavior","HP:0030220"]
["Sweet craving","HP:0030221"]
["Visual agnosia","HP:0030222"]
["Perseveration","HP:0030223"]
["Abnormal muscle fiber desmin","HP:0030224"]
["Accumulation of muscle fiber desmin","HP:0030225"]
["Abnormal muscle fiber myotilin","HP:0030226"]
["Accumulation of muscle fiber myotilin","HP:0030227"]
["Abnormal muscle fiber valosin-containing protein","HP:0030228"]
["Accumulation of muscle fiber valosin-containing protein","HP:0030229"]
["Central core regions in muscle fibers","HP:0030230"]
["Glycogen accumulation in muscle fiber lysosomes","HP:0030231"]
["Increased sarcoplasmic glycogen","HP:0030232"]
["Bethlem sign","HP:0030233"]
["Highly elevated creatine kinase","HP:0030234"]
["Extremely elevated creatine kinase","HP:0030235"]
["Abnormality of muscle size","HP:0030236"]
["Hand muscle weakness","HP:0030237"]
["Hypoplasia of the upper arm musculature","HP:0030239"]
["Hypoplasia of deltoid muscle","HP:0030241"]
["Portal vein thrombosis","HP:0030242"]
["Hepatic vein thrombosis","HP:0030243"]
["Maternal fever in pregnancy","HP:0030244"]
["Intrapartum fever","HP:0030245"]
["Maternal first trimester fever","HP:0030246"]
["Splanchnic vein thrombosis","HP:0030247"]
["Mesenteric venous thrombosis","HP:0030248"]
["Enanthema","HP:0030249"]
["Pulmonary granulomatosis","HP:0030250"]
["Absence of memory B cells","HP:0030251"]
["Absent circulating B cells","HP:0030252"]
["Defective T cell proliferation","HP:0030253"]
["Nail bed hemorrhage","HP:0030254"]
["Large intestinal polyposis","HP:0030255"]
["Small intestinal polyposis","HP:0030256"]
["Freckled genitalia","HP:0030257"]
["Hyperpigmented genitalia","HP:0030258"]
["Hypopigmented genitalia","HP:0030259"]
["Microphallus","HP:0030260"]
["Absent penis","HP:0030261"]
["Narrow penis","HP:0030262"]
["Torsion of the penis","HP:0030263"]
["Webbed penis","HP:0030264"]
["Wide penis","HP:0030265"]
["obsolete Abnormality of the sacroiliac notch","HP:0030266"]
["Calcification of the interosseus membrane of the forearm","HP:0030267"]
["Hyperplastic callus formation","HP:0030268"]
["Increased serum insulin-like growth factor 1","HP:0030269"]
["Elevated red cell adenosine deaminase level","HP:0030270"]
["Reduced erythrocyte 2,3-diphosphoglycerate concentration","HP:0030271"]
["Abnormal erythrocyte enzyme level","HP:0030272"]
["Reduced red cell adenosine deaminase level","HP:0030273"]
["Accessory scrotum","HP:0030274"]
["Ectopic scrotum","HP:0030275"]
["Small scrotum","HP:0030276"]
["Abnormal vertebral pedicle morphology","HP:0030277"]
["Hypoplastic vertebral pedicle","HP:0030278"]
["Hypoplastic L5 vertebral pedicle","HP:0030279"]
["Rib gap","HP:0030280"]
["Cervical C3/C4 vertebral fusion","HP:0030281"]
["Posterior rib gap","HP:0030282"]
["Partial absence of the septum pellucidum","HP:0030283"]
["Triangular tongue","HP:0030284"]
["Splayed superior cerebellar peduncle","HP:0030285"]
["Atrophic superior cerebellar peduncle","HP:0030286"]
["Flattened femoral epiphysis","HP:0030289"]
["Unossified sacrum","HP:0030290"]
["Lower-limb metaphyseal irregularity","HP:0030291"]
["Tibial metaphyseal irregularity","HP:0030292"]
["Fibular metaphyseal irregularity","HP:0030293"]
["Metaphyseal chondromatosis of tibia","HP:0030294"]
["Metaphyseal chondromatosis of femur","HP:0030295"]
["Metaphyseal chondromatosis of radius","HP:0030296"]
["Metaphyseal chondromatosis of ulna","HP:0030297"]
["Metaphyseal chondromatosis of humerus","HP:0030298"]
["Distal femoral metaphyseal abnormality","HP:0030299"]
["10 pairs of ribs","HP:0030300"]
["Abnormality of the anterior commissure","HP:0030301"]
["Agenesis of the anterior commissure","HP:0030302"]
["Hypoplastic anterior commissure","HP:0030303"]
["Abnormal number of vertebrae","HP:0030304"]
["Decreased number of vertebrae","HP:0030305"]
["11 thoracic vertebrae","HP:0030306"]
["Flared lower limb metaphysis","HP:0030307"]
["Flared distal tibial metaphysis","HP:0030308"]
["Flared distal fibular metaphysis","HP:0030309"]
["Upper extremity joint dislocation","HP:0030310"]
["Lower extremity joint dislocation","HP:0030311"]
["Obliteration of the calvarial diploe","HP:0030312"]
["Abnormal periosteum morphology","HP:0030313"]
["Periostosis","HP:0030314"]
["Angular cheilitis","HP:0030318"]
["Weakness of facial musculature","HP:0030319"]
["Increased intervertebral space","HP:0030320"]
["Abnormal vertebral artery morphology","HP:0030321"]
["Vertebral artery hypoplasia","HP:0030322"]
["Unilateral vertebral artery hypoplasia","HP:0030323"]
["Bilateral vertebral artery hypoplasia","HP:0030324"]
["Cervicomedullary schisis","HP:0030325"]
["Abnormal macrophage count","HP:0030326"]
["Abnormal osteoclast count","HP:0030327"]
["Decreased osteoclast count","HP:0030328"]
["Retinal thinning","HP:0030329"]
["Multinucleated giant chondrocytes in epiphyseal cartilage","HP:0030330"]
["Impaired stimulus-induced skin wrinkling","HP:0030331"]
["obsolete Abnormal T cell morphology","HP:0030332"]
["Abnormal alpha-beta T cell morphology","HP:0030333"]
["Abnormal CD4-positive, CD25-positive, alpha-beta regulatory T cell morphology","HP:0030334"]
["Abnormal CD4-positive, CD25-positive, alpha-beta regulatory T cell count","HP:0030335"]
["Absence of CD4-positive, CD25-positive regulatory T cells","HP:0030336"]
["Elevated CD4-positive, CD25-positive regulatory T cell count","HP:0030337"]
["Abnormal circulating gonadotropin concentration","HP:0030338"]
["Decreased circulating gonadotropin concentration","HP:0030339"]
["obsolete Increased circulating gonadotropin level","HP:0030340"]
["Decreased circulating follicle stimulating hormone concentration","HP:0030341"]
["Decreased circulating luteinizing hormone level","HP:0030344"]
["Abnormal circulating luteinizing hormone concentration","HP:0030345"]
["Abnormal circulating follicle-stimulating hormone concentration","HP:0030346"]
["Abnormal circulating androgen level","HP:0030347"]
["Increased circulating androgen concentration","HP:0030348"]
["Decreased circulating androgen concentration","HP:0030349"]
["Erythematous papule","HP:0030350"]
["Urticarial plaque","HP:0030351"]
["Abnormal serum insulin-like growth factor 1 level","HP:0030352"]
["Decreased serum insulin-like growth factor 1","HP:0030353"]
["Abnormal serum interferon level","HP:0030354"]
["Abnormal serum interferon-gamma level","HP:0030355"]
["Increased serum interferon-gamma level","HP:0030356"]
["Small cell lung carcinoma","HP:0030357"]
["Non-small cell lung carcinoma","HP:0030358"]
["Squamous cell lung carcinoma","HP:0030359"]
["Large cell lung carcinoma","HP:0030360"]
["Abnormal circulating eicosanoid concentration","HP:0030361"]
["Reduced muscle carnitine level","HP:0030362"]
["Primary Caesarian section","HP:0030363"]
["Secondary Caesarian section","HP:0030364"]
["Vaginal birth after Caesarian","HP:0030365"]
["Delivery by Odon device","HP:0030366"]
["Finger hyperphalangy","HP:0030367"]
["Hyperphalangy of the 2nd finger","HP:0030368"]
["Induced vaginal delivery","HP:0030369"]
["Abnormal proportion of naive B cells","HP:0030370"]
["Increased proportion of naive B cells","HP:0030371"]
["Decreased proportion of naive B cells","HP:0030372"]
["Abnormal proportion of memory B cells","HP:0030373"]
["Decreased proportion of memory B cells","HP:0030374"]
["Increased proportion of memory B cells","HP:0030375"]
["Abnormal proportion of immature B cells","HP:0030376"]
["Increased proportion of immature B cells","HP:0030377"]
["Decreased proportion of immature B cells","HP:0030378"]
["Abnormal proportion of transitional B cells","HP:0030379"]
["Decreased proportion of transitional B cells","HP:0030380"]
["Increased proportion of transitional B cells","HP:0030381"]
["Abnormal proportion of marginal zone B cells","HP:0030383"]
["Decreased proportion of marginal zone B cells","HP:0030384"]
["Increased proportion of marginal zone B cells","HP:0030385"]
["Abnormal proportion of class-switched memory B cells","HP:0030386"]
["Increased proportion of class-switched memory B cells","HP:0030387"]
["Decreased proportion of class-switched memory B cells","HP:0030388"]
["Abnormal circulating thromboxane concentration","HP:0030389"]
["Reduced circulating leukotriene C4 concentration","HP:0030390"]
["Spoken word recognition deficit","HP:0030391"]
["Choroid plexus carcinoma","HP:0030392"]
["Endolymphatic sac tumor","HP:0030393"]
["Fallopian tube carcinoma","HP:0030394"]
["Abnormal platelet granule secretion","HP:0030396"]
["Abnormal platelet dense granule secretion","HP:0030397"]
["Abnormal platelet ATP dense granule secretion","HP:0030398"]
["Abnormal platelet alpha granule secretion","HP:0030399"]
["Abnormal platelet lysosome secretion","HP:0030400"]
["Abnormal platelet dense granule ATP/ADP ratio","HP:0030401"]
["Abnormal platelet aggregation","HP:0030402"]
["Spontaneous platelet aggregation","HP:0030403"]
["Glucagonoma","HP:0030404"]
["Pancreatic endocrine tumor","HP:0030405"]
["Primary peritoneal carcinoma","HP:0030406"]
["Pineocytoma","HP:0030407"]
["Pineoblastoma","HP:0030408"]
["Renal transitional cell carcinoma","HP:0030409"]
["Sebaceous gland carcinoma","HP:0030410"]
["Jejunal adenocarcinoma","HP:0030411"]
["Ileal adenocarcinoma","HP:0030412"]
["Squamous cell carcinoma of the tongue","HP:0030413"]
["Verrucous cell carcinoma of the tongue","HP:0030414"]
["Sarcomatoid carcinoma of the tongue","HP:0030415"]
["Vulvar neoplasm","HP:0030416"]
["Squamous cell carcinoma of the vulva","HP:0030417"]
["Vulvar melanoma","HP:0030418"]
["Bartholin gland carcinoma","HP:0030419"]
["Vulvar adenocarcinoma","HP:0030420"]
["Epididymal neoplasm","HP:0030421"]
["obsolete Papillary cystadenoma of the epididymis","HP:0030422"]
["Splenic cyst","HP:0030423"]
["Epididymal cyst","HP:0030424"]
["Calcified ovarian cyst","HP:0030425"]
["Ossifying fibroma","HP:0030426"]
["Ossifying fibroma of the jaw","HP:0030427"]
["Cutaneous myxoma","HP:0030428"]
["Juvenile nasopharyngeal angiofibroma","HP:0030429"]
["Neuroma","HP:0030430"]
["Osteochondroma","HP:0030431"]
["Chondroblastoma","HP:0030432"]
["Osteoid osteoma","HP:0030433"]
["Pilomatrixoma","HP:0030434"]
["Fibrofolliculoma","HP:0030436"]
["Anal canal neoplasm","HP:0030437"]
["Anal canal squamous cell carcinoma","HP:0030438"]
["Anal canal adenocarcinoma","HP:0030439"]
["Anal margin neoplasm","HP:0030440"]
["Anal margin Paget's disease","HP:0030441"]
["Anal margin squamous cell carcinoma","HP:0030442"]
["Anal margin basal cell carcinoma","HP:0030443"]
["Anal margin melanoma","HP:0030444"]
["Pulmonary carcinoid tumor","HP:0030445"]
["Atypical pulmonary carcinoid tumor","HP:0030446"]
["Merkel cell skin cancer","HP:0030447"]
["Soft tissue sarcoma","HP:0030448"]
["Therapeutic abortion","HP:0030449"]
["Neuroplasm of the autonomic nervous system","HP:0030450"]
["Mesenteric cyst","HP:0030451"]
["Chylolymphatic mesenteric cyst","HP:0030452"]
["Abnormal visual electrophysiology","HP:0030453"]
["Abnormal electrooculogram","HP:0030454"]
["Abnormality of pattern visual evoked potentials","HP:0030455"]
["Abnormality of pattern onset/offset visual evoked potentials","HP:0030456"]
["Abnormal amplitude of pattern onset/offset visual evoked potentials","HP:0030457"]
["Abnormal timing of pattern onset/offset visual evoked potentials","HP:0030458"]
["Abnormal timing of pattern reversal visual evoked potentials","HP:0030460"]
["Abnormal timing of flash visual evoked potentials","HP:0030461"]
["Abnormal amplitude of flash visual evoked potentials","HP:0030462"]
["Asymmetrical distribution of flash visual evoked potentials","HP:0030463"]
["Asymmetrical distribution of pattern reversal visual evoked potentials","HP:0030464"]
["Undetectable light-adapted electroretinogram","HP:0030465"]
["Abnormal full-field electroretinogram","HP:0030466"]
["Abnormal pattern electroretinogram","HP:0030467"]
["Abnormal multifocal electroretinogram","HP:0030468"]
["Abnormal dark-adapted electroretinogram","HP:0030469"]
["Abnormal dark-adapted bright flash electroretinogram","HP:0030470"]
["Abnormal dark-adapted dim flash electroretinogram","HP:0030471"]
["Abnormal light-adapted single flash electroretinogram","HP:0030472"]
["Abnormal light-adapted flicker electroretinogram","HP:0030473"]
["Undetectable dark-adapted electroretinogram","HP:0030474"]
["Abnormal timing of dark-adapted dim flash electroretinogram","HP:0030475"]
["Abnormal amplitude of dark-adapted dim flash electroretinogram","HP:0030476"]
["Abnormal timing of dark-adapted bright flash electroretinogram","HP:0030477"]
["Abnormal amplitude of dark-adapted bright flash electroretinogram","HP:0030478"]
["Abnormal amplitude of light-adapted flicker electroretinogram","HP:0030479"]
["Abnormal timing of light-adapted flicker electroretinogram","HP:0030480"]
["Abnormal amplitude of light-adapted single flash electroretinogram","HP:0030481"]
["Abnormal timing of light-adapted single flash electroretinogram","HP:0030482"]
["Reduced amplitude of dark-adapted bright flash electroretinogram a-wave","HP:0030483"]
["Supernormal dark-adapted bright flash electroretinogram b-wave","HP:0030484"]
["Abnormal amplitude of pattern electroretinogram","HP:0030485"]
["Abnormal timing of pattern electroretinogram","HP:0030486"]
["Abnormal P50/N95 ratio of pattern electroretinogram","HP:0030487"]
["Abnormal central response of multifocal electroretinogram","HP:0030488"]
["Abnormal paracentral response of multifocal electroretinogram","HP:0030489"]
["Exudative vitreoretinopathy","HP:0030490"]
["Choriocapillaris atrophy","HP:0030491"]
["Abnormality of foveal pigmentation","HP:0030493"]
["Macular microaneurysm/hemorrhage","HP:0030494"]
["Abnormality morphology of the macular vasculature","HP:0030495"]
["Macular exudate","HP:0030496"]
["Macular cotton wool spot","HP:0030497"]
["Macular thickening","HP:0030498"]
["Macular drusen","HP:0030499"]
["Yellow/white lesions of the macula","HP:0030500"]
["Macular crystals","HP:0030501"]
["Retinoschisis","HP:0030502"]
["Macular telangiectasia","HP:0030503"]
["Grouped congenital hypertrophy of retinal pigment epithelium","HP:0030504"]
["Nummular pigmentation of the fundus","HP:0030505"]
["Yellow/white lesions of the retina","HP:0030506"]
["Retinal crystals","HP:0030507"]
["Retinal cavernous hemangioma","HP:0030508"]
["Retinal racemose hemangioma","HP:0030509"]
["Combined hamartoma of the retinal pigment epithelium and retina","HP:0030510"]
["Bradyopsia","HP:0030511"]
["Difficulty adjusting to changes in luminance","HP:0030512"]
["Difficulty adjusting from light to dark","HP:0030513"]
["Difficulty adjusting from dark to light","HP:0030514"]
["Moderately reduced visual acuity","HP:0030515"]
["Homonymous hemianopia","HP:0030516"]
["Heteronymous hemianopia","HP:0030517"]
["Congruous homonymous hemianopia","HP:0030518"]
["Congruous heteronymous hemianopia","HP:0030519"]
["Binasal hemianopia","HP:0030520"]
["Bitemporal hemianopia","HP:0030521"]
["Mild constriction of peripheral visual field","HP:0030522"]
["obsolete Peripheral visual field constriction with 40-50 degrees central field preserved","HP:0030523"]
["obsolete Peripheral visual field constriction with 30-39 degrees central field preserved","HP:0030524"]
["Moderate constriction of peripheral visual field","HP:0030525"]
["Severe constriction of peripheral visual field","HP:0030526"]
["Very severe constriction of peripheral visual field","HP:0030527"]
["Paracentral scotoma","HP:0030528"]
["Ring scotoma","HP:0030529"]
["Arcuate scotoma","HP:0030530"]
["Altitudinal visual field defect","HP:0030531"]
["Visual acuity test abnormality","HP:0030532"]
["Abnormal unaided visual acuity test","HP:0030533"]
["Abnormal best corrected visual acuity test","HP:0030534"]
["Abnormal pinhole visual acuity test","HP:0030535"]
["Unaided visual acuity 0.1 LogMAR","HP:0030536"]
["Unaided visual acuity 0.2 LogMAR","HP:0030537"]
["Unaided visual acuity 0.3 LogMAR","HP:0030538"]
["Unaided visual acuity 0.4 LogMAR","HP:0030539"]
["Unaided visual acuity 0.5 LogMAR","HP:0030540"]
["Unaided visual acuity 0.6 LogMAR","HP:0030541"]
["Unaided visual acuity 0.7 LogMAR","HP:0030542"]
["Unaided visual acuity 0.8 LogMAR","HP:0030543"]
["Unaided visual acuity 0.9 LogMAR","HP:0030544"]
["Unaided visual acuity 1.0 LogMAR","HP:0030545"]
["Unaided visual acuity 1.1 LogMAR","HP:0030546"]
["Unaided visual acuity 1.2 LogMAR","HP:0030547"]
["Unaided visual acuity 1.3 LogMAR","HP:0030548"]
["Unaided visual acuity 2.0 LogMAR","HP:0030549"]
["Unaided visual acuity 3.0 LogMAR","HP:0030550"]
["Visual acuity light perception with projection","HP:0030551"]
["Visual acuity light perception without projection","HP:0030552"]
["Visual acuity no light perception","HP:0030553"]
["Best corrected visual acuity 0.1 LogMAR","HP:0030554"]
["Best corrected visual acuity 0.2 LogMAR","HP:0030555"]
["Best corrected visual acuity 0.3 LogMAR","HP:0030556"]
["Best corrected visual acuity 0.4 LogMAR","HP:0030557"]
["Best corrected visual acuity 0.5 LogMAR","HP:0030558"]
["Best corrected visual acuity 0.7 LogMAR","HP:0030559"]
["Best corrected visual acuity 0.6 LogMAR","HP:0030560"]
["Best corrected visual acuity 0.8 LogMAR","HP:0030561"]
["Best corrected visual acuity 0.9 LogMAR","HP:0030562"]
["Best corrected visual acuity 1.0 LogMAR","HP:0030563"]
["Best corrected visual acuity 1.1 LogMAR","HP:0030564"]
["Best corrected visual acuity 1.2 LogMAR","HP:0030565"]
["Best corrected visual acuity 1.3 LogMAR","HP:0030566"]
["Best corrected visual acuity 2.0 LogMAR","HP:0030567"]
["Best corrected visual acuity 3.0 LogMAR","HP:0030568"]
["Pinhole visual acuity 0.1 LogMAR","HP:0030569"]
["Pinhole visual acuity 0.2 LogMAR","HP:0030570"]
["Pinhole visual acuity 0.3 LogMAR","HP:0030571"]
["Pinhole visual acuity 0.4 LogMAR","HP:0030572"]
["Pinhole visual acuity 0.5 LogMAR","HP:0030573"]
["Pinhole visual acuity 0.6 LogMAR","HP:0030574"]
["Pinhole visual acuity 0.7 LogMAR","HP:0030575"]
["Pinhole visual acuity 0.8 LogMAR","HP:0030576"]
["Pinhole visual acuity 0.9 LogMAR","HP:0030577"]
["Pinhole visual acuity 1.0 LogMAR","HP:0030578"]
["Pinhole visual acuity 1.1 LogMAR","HP:0030579"]
["Pinhole visual acuity 1.2 LogMAR","HP:0030580"]
["Pinhole visual acuity 1.3 LogMAR","HP:0030581"]
["Pinhole visual acuity 2.0 LogMAR","HP:0030582"]
["Pinhole visual acuity 3.0 LogMAR","HP:0030583"]
["Color vision test abnormality","HP:0030584"]
["Red desaturation","HP:0030585"]
["Abnormal Ishihara plate test","HP:0030586"]
["Abnormal Hardy-Rand-Rittler plate test","HP:0030587"]
["Abnormal visual field test","HP:0030588"]
["Abnormal confrontational visual field test","HP:0030589"]
["Abnormal Amsler grid test","HP:0030590"]
["Abnormal kinetic perimetry test","HP:0030591"]
["Abnormal static perimetry test","HP:0030592"]
["Abnormal manual kinetic perimetry test","HP:0030593"]
["Abnormal automated kinetic perimetry test","HP:0030594"]
["Abnormal static automated perimetry test","HP:0030595"]
["Abnormal Humphrey SITA 30-2 perimetry test","HP:0030596"]
["Abnormal Humphrey SITA 24-2 perimetry test","HP:0030597"]
["Abnormal Humphrey SITA 10-2 perimetry test","HP:0030598"]
["Abnormal Estermann grid perimetry test","HP:0030599"]
["Abnormal posterior segment imaging","HP:0030601"]
["Abnormal fundus autofluorescence imaging","HP:0030602"]
["Abnormal optical coherence tomography","HP:0030603"]
["Abnormal fundus fluorescein angiography","HP:0030604"]
["Abnormal indocyanine green angiography","HP:0030605"]
["Abnormal OCT-measured macular thickness","HP:0030606"]
["Reduced OCT-measured macular thickness","HP:0030607"]
["Increased OCT-measured macular thickness","HP:0030608"]
["Photoreceptor layer loss on macular OCT","HP:0030609"]
["Photoreceptor outer segment loss on macular OCT","HP:0030610"]
["Retinal pigment epithelial loss on macular OCT","HP:0030611"]
["Abnormal retinal morphology on macular OCT","HP:0030612"]
["Abnormal foveal morphology on macular OCT","HP:0030613"]
["Foveal photoreceptor layer loss on macular OCT","HP:0030614"]
["Foveal photoreceptor outer segment loss on macular OCT","HP:0030615"]
["Foveal retinal pigment epithelial loss on macular OCT","HP:0030616"]
["Abnormal OCT-measured foveal thickness","HP:0030617"]
["Increased OCT-measured foveal thickness","HP:0030618"]
["Reduced OCT-measured foveal thickness","HP:0030619"]
["Inner retinal layer loss on macular OCT","HP:0030620"]
["Foveal inner retinal layer loss on macular OCT","HP:0030621"]
["Abnormal foveal pit on macular OCT","HP:0030622"]
["Intraretinal hyporeflective spaces on macular OCT","HP:0030623"]
["Subretinal hyporeflective spaces on macular OCT","HP:0030624"]
["Hyporeflective spaces on macular OCT","HP:0030625"]
["Foveal intraretinal hyporeflective spaces on macular OCT","HP:0030626"]
["Foveal hyporeflective spaces on macular OCT","HP:0030627"]
["Foveal subretinal hyporeflective spaces on macular OCT","HP:0030628"]
["Perifoveal ring of hyperautofluorescence","HP:0030629"]
["Irregular central macular autofluorescence","HP:0030630"]
["Hyperautofluorescent macular lesion","HP:0030631"]
["Hypoautofluorescent macular lesion","HP:0030632"]
["Perifoveal ring of hyperautofluorescence surrounded by normal autofluorescence","HP:0030633"]
["Perifoveal ring of hyperautofluorescence surrounded by abnormal autofluorescence","HP:0030634"]
["Retinal dystrophy with early macular involvement","HP:0030635"]
["Occult macular dystrophy","HP:0030636"]
["Congenital stationary cone dysfunction","HP:0030637"]
["Congenital stationary night blindness with normal fundus","HP:0030638"]
["Congenital stationary night blindness with abnormal fundus","HP:0030639"]
["Complete congenital stationary night blindness","HP:0030640"]
["Incomplete congenital stationary night blindness","HP:0030641"]
["Fundus albipunctatus","HP:0030642"]
["Vitelliform-like retinal lesions","HP:0030643"]
["Blind-spot enlargment","HP:0030644"]
["Central","HP:0030645"]
["Peripheral","HP:0030646"]
["Paracentral","HP:0030647"]
["Midperipheral","HP:0030648"]
["Pericentral","HP:0030649"]
["Focal","HP:0030650"]
["Multifocal","HP:0030651"]
["Vitreous haze","HP:0030652"]
["Umbilical cord cyst","HP:0030654"]
["Umbilical cord knot","HP:0030655"]
["Umbilical vein varix","HP:0030656"]
["Umbilical cord hematoma","HP:0030657"]
["Marginal umbilical cord insertion","HP:0030658"]
["Velamentous cord insertion","HP:0030659"]
["Furcate cord insertion","HP:0030660"]
["Vitreous snowballs","HP:0030661"]
["Vitreous inflammatory cells","HP:0030662"]
["Optically empty vitreous","HP:0030663"]
["Beevor's sign","HP:0030664"]
["Rubral tremor","HP:0030665"]
["Retinal neovascularization","HP:0030666"]
["Peripheral retinal neovascularization","HP:0030667"]
["Periorbital dermoid cyst","HP:0030668"]
["Abnormal ocular adnexa morphology","HP:0030669"]
["Hamartoma of the orbital region","HP:0030670"]
["Abnormal common tendinous ring morphology","HP:0030671"]
["Asteroid hyalosis","HP:0030672"]
["Erosive vitreoretinopathy","HP:0030673"]
["Antenatal onset","HP:0030674"]
["Contracture of proximal interphalangeal joints of 2nd-5th fingers","HP:0030675"]
["Satyr ear","HP:0030676"]
["Mozart ear","HP:0030677"]
["Ash-leaf spot","HP:0030679"]
["Abnormality of cardiovascular system morphology","HP:0030680"]
["Abnormal morphology of myocardial trabeculae","HP:0030681"]
["Left ventricular noncompaction","HP:0030682"]
["Vaginitis","HP:0030683"]
["Abnormal adiponectin level","HP:0030684"]
["Decreased adiponectin level","HP:0030685"]
["Increased adiponectin level","HP:0030686"]
["Abnormal glucagon level","HP:0030687"]
["Increased glucagon level","HP:0030688"]
["Decreased glucagon level","HP:0030689"]
["Gingival cleft","HP:0030690"]
["Divergence nystagmus","HP:0030691"]
["Brain neoplasm","HP:0030692"]
["Supratentorial neoplasm","HP:0030693"]
["Pineal parenchymal cell neoplasm","HP:0030694"]
["Ranula","HP:0030706"]
["Unilateral lung agenesis","HP:0030707"]
["Myeloschisis","HP:0030708"]
["Myelocystocele","HP:0030709"]
["Lipomeningocele","HP:0030710"]
["Hydrocolpos","HP:0030711"]
["Uterine synechiae","HP:0030712"]
["Vein of Galen aneurysmal malformation","HP:0030713"]
["Subchorionic thrombohematoma","HP:0030714"]
["Bronchial atresia","HP:0030715"]
["Acrania","HP:0030716"]
["Meconium peritonitis","HP:0030717"]
["Right atrial enlargement","HP:0030718"]
["Unguarded tricuspid valve","HP:0030719"]
["Subchorionic septal cyst","HP:0030720"]
["Tetraphocomelia","HP:0030721"]
["Ectopic liver","HP:0030722"]
["Congenital megalourethra","HP:0030723"]
["Central nervous system cyst","HP:0030724"]
["Neurenteric cyst","HP:0030725"]
["Spinal neurenteric cyst","HP:0030726"]
["Intracranial neurenteric cyst","HP:0030727"]
["Meromelia","HP:0030728"]
["Frontoethmoidal meningocele","HP:0030729"]
["Parietal meningocele","HP:0030730"]
["Carcinoma","HP:0030731"]
["Dysplastic tricuspid valve","HP:0030732"]
["Vesicoallantoic abdominal wall defect","HP:0030733"]
["Ureterovesical junction obstruction","HP:0030735"]
["Sacrococcygeal teratoma","HP:0030736"]
["Altman type I sacrococcygeal teratoma","HP:0030737"]
["Altman type II sacrococcygeal teratoma","HP:0030738"]
["Altman type III sacrococcygeal teratoma","HP:0030739"]
["Anomalous muscle bundle of the right ventricle","HP:0030740"]
["Mediastinal teratoma","HP:0030741"]
["Glial remnants posterior to lens","HP:0030742"]
["Glial remnants anterior to the optic disc","HP:0030743"]
["Hyaloid vascular remnant and retrolental mass","HP:0030744"]
["Dilatation of the ductus arteriosus","HP:0030745"]
["Intraventricular hemorrhage","HP:0030746"]
["Preterm intraventricular hemorrhage","HP:0030747"]
["Grade I preterm intraventricular hemorrhage","HP:0030748"]
["Grade II preterm intraventricular hemorrhage","HP:0030749"]
["Grade III preterm intraventricular hemorrhage","HP:0030750"]
["Grade IV preterm intraventricular hemorrhage","HP:0030751"]
["Dacryocystocele","HP:0030752"]
["Intrauterine fetal demise of one twin after midgestation","HP:0030753"]
["Allantoic cyst","HP:0030754"]
["Craniofacial teratoma","HP:0030755"]
["Erythrodontia","HP:0030756"]
["Tooth abscess","HP:0030757"]
["Periapical tooth abscess","HP:0030758"]
["Adipocyte hypertrophy","HP:0030759"]
["Renal fibrosis","HP:0030760"]
["obsolete Renal glomerular fibrosis","HP:0030761"]
["Mesangiolysis","HP:0030762"]
["Amniotic Sheet","HP:0030763"]
["Ochronosis","HP:0030764"]
["Sleep terror","HP:0030765"]
["Ear pain","HP:0030766"]
["Epignathus","HP:0030767"]
["Exencephaly","HP:0030769"]
["Craniorachischisis","HP:0030770"]
["Mallet finger","HP:0030771"]
["Proximal femoral focal deficiency","HP:0030772"]
["Internuclear ophthalmoplegia","HP:0030773"]
["Mitochondrial swelling","HP:0030774"]
["Modic type vertebral endplate changes","HP:0030775"]
["Modic type I vertebral endplate changes","HP:0030776"]
["Modic type II vertebral endplate changes","HP:0030777"]
["Modic type III vertebral endplate changes","HP:0030778"]
["Ethmocephaly","HP:0030779"]
["Abnormality of the protein C anticoagulant pathway","HP:0030780"]
["Increased circulating free fatty acid level","HP:0030781"]
["Abnormal serum interleukin level","HP:0030782"]
["Increased circulating interleukin 6","HP:0030783"]
["Anomic aphasia","HP:0030784"]
["Mediastinal cystic lymphangioma","HP:0030785"]
["Photopsia","HP:0030786"]
["Cerumen abnormality","HP:0030787"]
["Impacted cerumen","HP:0030788"]
["Excessive cerumen","HP:0030789"]
["Abnormal cerumen color","HP:0030790"]
["Abnormal jaw morphology","HP:0030791"]
["Jaw neoplasm","HP:0030792"]
["Jaw swelling","HP:0030793"]
["Abnormal C-peptide level","HP:0030794"]
["Reduced C-peptide level","HP:0030795"]
["Increased C-peptide level","HP:0030796"]
["Reduced volume of central subdivision of bed nucleus of stria terminalis","HP:0030797"]
["Abnormality of the bed nucleus of stria terminalis","HP:0030798"]
["Scaphocephaly","HP:0030799"]
["Abnormal visual accommodation","HP:0030800"]
["Reduced visual accommodation","HP:0030801"]
["Lower eyelid retraction","HP:0030802"]
["Platonychia","HP:0030803"]
["Trachyonychia","HP:0030804"]
["Absent lunula","HP:0030805"]
["Fast-growing nails","HP:0030806"]
["Abnormal nail growth","HP:0030807"]
["Ragged cuticle","HP:0030808"]
["Abnormal tongue morphology","HP:0030809"]
["Abnormal tongue physiology","HP:0030810"]
["Tongue pain","HP:0030811"]
["Enlarged tonsils","HP:0030812"]
["Absent tonsils","HP:0030813"]
["Orange discolored tonsils","HP:0030814"]
["Lipoma of the tongue","HP:0030815"]
["Gingival recession","HP:0030816"]
["Beaked nails","HP:0030817"]
["Central nail canal","HP:0030818"]
["Ski jump nail","HP:0030819"]
["Hooded eyelid","HP:0030820"]
["Hooded lower eyelid","HP:0030821"]
["Hooded upper eyelid","HP:0030822"]
["Scleral thickening","HP:0030823"]
["Mizuo phenomenon","HP:0030824"]
["Absent foveal reflex","HP:0030825"]
["Eyelid fasciculation","HP:0030826"]
["Wheezing","HP:0030828"]
["Abnormal breath sound","HP:0030829"]
["Crackles","HP:0030830"]
["Rhonchi","HP:0030831"]
["Vitreous strands","HP:0030832"]
["Neck pain","HP:0030833"]
["Shoulder pain","HP:0030834"]
["Elbow pain","HP:0030835"]
["Wrist pain","HP:0030836"]
["Finger pain","HP:0030837"]
["Hip pain","HP:0030838"]
["Knee pain","HP:0030839"]
["Ankle pain","HP:0030840"]
["Toe pain","HP:0030841"]
["Choking episodes","HP:0030842"]
["Cardiac amyloidosis","HP:0030843"]
["Undetectable pattern electroretinogram","HP:0030844"]
["Heliotrope rash of eyelid","HP:0030845"]
["Abnormality of venous physiology","HP:0030846"]
["Abnormal jugular venous pressure","HP:0030847"]
["Elevated jugular venous pressure","HP:0030848"]
["Hepatojugular reflux","HP:0030849"]
["Abnormal pulse pressure","HP:0030850"]
["Low pulse pressure","HP:0030851"]
["High pulse pressure","HP:0030852"]
["Heterotaxy","HP:0030853"]
["Scleral staphyloma","HP:0030854"]
["Anterior staphyloma","HP:0030855"]
["Posterior staphyloma","HP:0030856"]
["Eye movement-induced pain","HP:0030857"]
["Addictive behavior","HP:0030858"]
["Anti-topoisomerase I antibody positivity","HP:0030859"]
["Abnormal CSF amyloid level","HP:0030860"]
["Decreased CSF amyloid level","HP:0030861"]
["Elevated CSF amyloid level","HP:0030862"]
["Nasal flaring","HP:0030863"]
["Intercostal retractions","HP:0030864"]
["Large elbow","HP:0030865"]
["Large knee","HP:0030866"]
["Vertical orbital dystopia","HP:0030867"]
["Monorchism","HP:0030868"]
["Anorchism","HP:0030869"]
["Abnormality of spinal facet joint","HP:0030870"]
["Facet joint arthrosis","HP:0030871"]
["Abnormal cardiac ventricular function","HP:0030872"]
["Anti-centromere antibody positivity","HP:0030873"]
["Oxygen desaturation on exertion","HP:0030874"]
["Abnormality of pulmonary circulation","HP:0030875"]
["Increased pulmonary capillary wedge pressure","HP:0030876"]
["Reduced FEV1/FVC ratio","HP:0030877"]
["Abnormality on pulmonary function testing","HP:0030878"]
["Interlobular septal thickening","HP:0030879"]
["Raynaud phenomenon","HP:0030880"]
["Shoulder impingement","HP:0030881"]
["Coronary artery aneurysm","HP:0030882"]
["Femoroacetabular impingement","HP:0030883"]
["Gastrojejunal tube feeding in infancy","HP:0030884"]
["Recurrent parasitic infections","HP:0030885"]
["Abnormal lymphocyte apoptosis","HP:0030886"]
["Increased lymphocyte apoptosis","HP:0030887"]
["C3 nephritic factor positivity","HP:0030888"]
["Congenital shortened small intestine","HP:0030889"]
["Hyperintensity of cerebral white matter on MRI","HP:0030890"]
["Periventricular white matter hyperdensities","HP:0030891"]
["Deep cerebral white matter hyperdensities","HP:0030892"]
["Abnormal response to short acting pulmonary vasodilator","HP:0030893"]
["Insufficient response to short acting pulmonary vasodilator","HP:0030894"]
["Abnormal gastrointestinal motility","HP:0030895"]
["Abnormal gastrointestinal transit time","HP:0030896"]
["Decreased intestinal transit time","HP:0030897"]
["Pruritis on abdomen","HP:0030898"]
["Pruritis on hand","HP:0030899"]
["Pruritus on foot","HP:0030900"]
["Pruritis on breast","HP:0030901"]
["Palmomental reflex","HP:0030902"]
["Grasp reflex","HP:0030903"]
["Glabellar reflex","HP:0030904"]
["Snout reflex","HP:0030905"]
["Suck reflex","HP:0030906"]
["Thunderclap headache","HP:0030907"]
["Liver kidney microsome type 1 antibody positivity","HP:0030908"]
["Anti-liver cytosolic antigen type 1 antibody positivity","HP:0030909"]
["Bifid clitoris","HP:0030911"]
["Duplicated clitoris","HP:0030912"]
["Exaggerated rugosity of the labia majora","HP:0030913"]
["Abnormal peristalsis","HP:0030914"]
["Cerebellar edema","HP:0030915"]
["Low APGAR score","HP:0030917"]
["Low 1-minute APGAR score","HP:0030918"]
["Low 5-minute APGAR score","HP:0030919"]
["5-minute APGAR score of 0","HP:0030920"]
["5-minute APGAR score of 1","HP:0030921"]
["5-minute APGAR score of 2","HP:0030922"]
["5-minute APGAR score of 3","HP:0030923"]
["5-minute APGAR score of 4","HP:0030924"]
["5-minute APGAR score of 5","HP:0030925"]
["5-minute APGAR score of 6","HP:0030926"]
["1-minute APGAR score of 0","HP:0030927"]
["1-minute APGAR score of 1","HP:0030928"]
["1-minute APGAR score of 2","HP:0030929"]
["1-minute APGAR score of 3","HP:0030930"]
["1-minute APGAR score of 4","HP:0030931"]
["1-minute APGAR score of 5","HP:0030932"]
["1-minute APGAR score of 6","HP:0030933"]
["Oral erythroplakia","HP:0030934"]
["Abnormality of intestinal smooth muscle morphology","HP:0030935"]
["Abnormal layering of muscularis propria","HP:0030936"]
["Fibrotic muscularis propria","HP:0030937"]
["Enteric intraneuronal nuclear inclusion bodies","HP:0030938"]
["Palpebral thickening","HP:0030939"]
["Vulvodynia","HP:0030943"]
["Conjunctival papillae","HP:0030946"]
["Conjunctival follicles","HP:0030947"]
["Elevated gamma-glutamyltransferase level","HP:0030948"]
["Glomerular deposits","HP:0030949"]
["Pulmonary venous hypertension","HP:0030950"]
["Skeletal muscle fibrosis","HP:0030951"]
["Birdshot choroidal lesions","HP:0030952"]
["Conjunctival hyperemia","HP:0030953"]
["Alcoholism","HP:0030955"]
["Abnormality of cardiovascular system electrophysiology","HP:0030956"]
["Ventricular septal aneurysm","HP:0030957"]
["Membranous ventricular septal aneurysm","HP:0030958"]
["Muscular ventricular septal aneurysm","HP:0030959"]
["obsolete Abnormal pupillary morphology","HP:0030960"]
["Microspherophakia","HP:0030961"]
["Abnormal morphology of the great vessels","HP:0030962"]
["obsolete Abnormal aortic morphology","HP:0030963"]
["Abnormal aortic physiology","HP:0030964"]
["Aortic stiffness","HP:0030965"]
["Abnormal pulmonary artery morphology","HP:0030966"]
["Abnormal pulmonary artery physiology","HP:0030967"]
["Abnormal pulmonary vein morphology","HP:0030968"]
["Abnormal pulmonary vein physiology","HP:0030969"]
["Abnormal vena cava physiology","HP:0030970"]
["obsolete Abnormal vena cava morphology","HP:0030971"]
["Abnormal systemic blood pressure","HP:0030972"]
["Postexertional malaise","HP:0030973"]
["Cryptozoospermia","HP:0030974"]
["Pontine tegmental cap","HP:0030975"]
["Abnormal factor VIII activity","HP:0030976"]
["Increased factor VIII activity","HP:0030977"]
["Decreased CSF/serum albumin ratio","HP:0030978"]
["Dilatation of large choroidal vessels","HP:0030979"]
["Reduced brain glutamine level by MRS","HP:0030980"]
["Abnormal CSF/serum albumin ratio","HP:0030981"]
["Ovarian thecoma","HP:0030983"]
["Abnormal serum bile acid concentration","HP:0030984"]
["Decreased serum bile concentration","HP:0030985"]
["Biliary epithelial hyperplasia","HP:0030986"]
["Suppurative cholangitis","HP:0030987"]
["Granulomatous cholangitis","HP:0030988"]
["Lymphoid cholangitis","HP:0030989"]
["Pleomorphic cholangitis","HP:0030990"]
["Sclerosing cholangitis","HP:0030991"]
["Abnormal pancreatic duct morphology","HP:0030992"]
["Duplication of pancreatic duct","HP:0030993"]
["Pancreas divisum","HP:0030994"]
["Peritoneal effusion","HP:0030995"]
["Megaduodenum","HP:0030996"]
["Atretic vas deferens","HP:0030997"]
["Cerebrospinal fluid rhinorrhoea","HP:0030998"]
["Abnormal vestibular saccule morphology","HP:0030999"]
["Vestibular saccular degeneration","HP:0031000"]
["Minifascicle formation","HP:0031001"]
["Neuritis","HP:0031002"]
["Polyneuritis","HP:0031003"]
["Hemiareflexia","HP:0031004"]
["obsolete Hyperalgesia","HP:0031005"]
["Acroparesthesia","HP:0031006"]
["Orofacial action-specific dystonia induced by speech","HP:0031007"]
["Lingual dystonia","HP:0031008"]
["Ainhum","HP:0031009"]
["Hyperphalangy of the 3rd finger","HP:0031010"]
["Fatty streak","HP:0031011"]
["Thin-cap fibroatheroma","HP:0031012"]
["Ankylosis","HP:0031013"]
["Arteria lusoria","HP:0031014"]
["Intrahepatic portal vein sclerosis","HP:0031015"]
["Alternating radiolucent and radiodense metaphyseal lines","HP:0031016"]
["Swiss cheese atrial septal defect","HP:0031017"]
["Eccrine syringofibroadenoma","HP:0031018"]
["Pyknotic bone marrow neutrophils","HP:0031019"]
["Bone marrow hypercellularity","HP:0031020"]
["Squamous Papilloma","HP:0031021"]
["Oropharyngeal squamous papilloma","HP:0031022"]
["Multiple mucosal neuromas","HP:0031023"]
["Cylindroma","HP:0031024"]
["Gastric leiomyosarcoma","HP:0031025"]
["Snail-like ilia","HP:0031026"]
["Internal notch of the femoral head","HP:0031027"]
["Lactescent serum","HP:0031028"]
["Elevated carcinoembryonic antigen level","HP:0031029"]
["Elevated carcinoma antigen 125 level","HP:0031030"]
["Abnormal retinol-binding protein level","HP:0031031"]
["Decreased retinol-binding protein level","HP:0031032"]
["Impaired urinary acidification","HP:0031033"]
["Abnormal insulin like growth factor binding protein acid labile subunit level","HP:0031034"]
["Chronic infection","HP:0031035"]
["Reduced growth-hormone binding protein level","HP:0031036"]
["Reduced insulin-like factor 3 level","HP:0031037"]
["Spermatogenesis maturation arrest","HP:0031038"]
["Early spermatogenesis maturation arrest","HP:0031039"]
["Late spermatogenesis maturation arrest","HP:0031040"]
["Obstruction of the superior vena cava","HP:0031041"]
["Strawberry tongue","HP:0031042"]
["Type A4 brachydactyly","HP:0031043"]
["Type A5 brachydactyly","HP:0031044"]
["Acral blistering","HP:0031045"]
["Absent soft palate","HP:0031046"]
["Paraproteinemia","HP:0031047"]
["Light-chain paraproteinemia","HP:0031048"]
["Heavy-chain paraproteinemia","HP:0031049"]
["Whole-immunoglobulin paraproteinemia","HP:0031050"]
["Tarsal sclerosis","HP:0031051"]
["Elevated vascular endothelial growth factor level","HP:0031052"]
["Coarctation in the transverse aortic arch","HP:0031053"]
["Long segment coarctation of the aorta","HP:0031054"]
["Abnormal branching pattern of left aortic arch","HP:0031055"]
["Fusiform cerebral aneurysm","HP:0031056"]
["Skin fissure","HP:0031057"]
["Impairment of activities of daily living","HP:0031058"]
["Impaired ability to bathe oneself","HP:0031059"]
["Impaired ability to dress oneself","HP:0031060"]
["Impaired toileting ability","HP:0031061"]
["Impaired transferring ability","HP:0031062"]
["Impaired feeding ability","HP:0031063"]
["Impaired continence","HP:0031064"]
["Abnormal ovarian morphology","HP:0031065"]
["Abnormal ovarian physiology","HP:0031066"]
["Empty ovarian follicle","HP:0031067"]
["Increased femoral torsion","HP:0031068"]
["Abnormal femoral torsion","HP:0031069"]
["Decreased femoral torsion","HP:0031070"]
["Abnormal endocrine morphology","HP:0031071"]
["Abnormal endocrine physiology","HP:0031072"]
["Abnormal response to endocrine stimulation test","HP:0031073"]
["Abnormal response to ACTH stimulation test","HP:0031074"]
["Abnormal response to insulin tolerance test","HP:0031075"]
["Impaired cortisol response to insulin stimulation test","HP:0031076"]
["Abnormal response to corticotropin releasing hormone stimulation test","HP:0031077"]
["Impaired cortisol response to corticotropin releasing hormone stimulation test","HP:0031078"]
["Impaired growth-hormone response to insulin stimulation test","HP:0031079"]
["Abnormal response to glucagon stimulation test","HP:0031080"]
["Impaired cortisol response to glucagon stimulation test","HP:0031081"]
["Impaired growth-hormone response to glucagon stimulation test","HP:0031082"]
["Abnormal response to human chorionic gonadotrophin stimulation test","HP:0031083"]
["Excessive insulin response to glucagon test","HP:0031084"]
["Decreased prealbumin level","HP:0031085"]
["Ectopic ovary","HP:0031086"]
["Absent pubertal growth spurt","HP:0031087"]
["Vaginal dryness","HP:0031088"]
["Palatal edema","HP:0031089"]
["Finger dactylitis","HP:0031090"]
["Toe dactylitis","HP:0031091"]
["Spindle-shaped finger","HP:0031092"]
["Abnormal breast morphology","HP:0031093"]
["Abnormal breast physiology","HP:0031094"]
["Abnormal humerus morphology","HP:0031095"]
["Delayed vertebral ossification","HP:0031096"]
["Abnormal thyroid-stimulating hormone level","HP:0031097"]
["Decreased thyroid-stimulating hormone level","HP:0031098"]
["Abnormal circulating inhibin level","HP:0031099"]
["Decreased inhibin B level","HP:0031100"]
["Abnormal circulating antimullerian hormone concentration","HP:0031101"]
["Increased antimullerian hormone level","HP:0031102"]
["Decreased antimullerian hormone level","HP:0031103"]
["Insulin receptor antibody positivity","HP:0031104"]
["Abnormal uterus morphology","HP:0031105"]
["T-shaped uterus","HP:0031106"]
["Decreased fibular diameter","HP:0031107"]
["Triceps weakness","HP:0031108"]
["Agalactia","HP:0031109"]
["Twin-to-twin transfusion","HP:0031110"]
["Cutaneous hamartoma","HP:0031111"]
["Purely bicuspid aortic valve","HP:0031117"]
["Single raphe bicuspid aortic valve","HP:0031118"]
["Bicuspid aortic valve with right-left cusp fusion","HP:0031119"]
["Bicuspid aortic valve with right-noncoronary cusp fusion","HP:0031120"]
["Bicuspid aortic valve with left-noncoronary cusp fusion","HP:0031121"]
["Two-raphe bicuspid aortic valve","HP:0031122"]
["Recurrent gastroenteritis","HP:0031123"]
["Decreased platelet thromboxane A2 receptor","HP:0031124"]
["Decreased platelet alpha-2A-adrenergic receptor","HP:0031125"]
["Impaired clot retraction","HP:0031126"]
["Impaired convulxin-induced platelet aggregation","HP:0031127"]
["Impaired collagen-related peptide-induced platelet aggregation","HP:0031128"]
["Impaired phorbol myristate acetate-induced platelet aggregation","HP:0031129"]
["Impaired calcium ionophore-induced platelet aggregation","HP:0031130"]
["Abnormal platelet phosphatidylserine exposure","HP:0031131"]
["Impaired annexin V binding to platelet phosphatidylserine","HP:0031132"]
["Increased annexin V binding to platelet phosphatidylserine","HP:0031133"]
["Cor triatrium sinister","HP:0031134"]
["Triggered by physical trauma","HP:0031135"]
["Decreased acrosin in sperm head","HP:0031136"]
["Storage in hepatocytes","HP:0031137"]
["Abnormal B-type natriuretic peptide level","HP:0031138"]
["Frog-leg posture","HP:0031139"]
["Abnormal liver sonography","HP:0031140"]
["Increased hepatic echogenicity","HP:0031141"]
["Abnormal hepatic echogenicity","HP:0031142"]
["Decreased hepatic echogenicity","HP:0031143"]
["Coarsened hepatic echotexture","HP:0031144"]
["Starry sky appearance on hepatic sonography","HP:0031145"]
["Impaired oral bolus formation","HP:0031146"]
["Vitreomacular adhesion","HP:0031150"]
["Vitreomacular traction","HP:0031151"]
["Full-thickness macular hole","HP:0031152"]
["Membranous vitreous appearance","HP:0031153"]
["Beaded vitreous appearance","HP:0031154"]
["Increased Arden ratio of electrooculogram","HP:0031155"]
["Decreased platelet glycoprotein Ib","HP:0031156"]
["Carotid cavernous fistula","HP:0031157"]
["Widened atrophic scar","HP:0031158"]
["Thinning of Descemet membrane","HP:0031159"]
["Myelokathexis","HP:0031160"]
["Reduced brain glutamate level by MRS","HP:0031161"]
["Impaired oropharyngeal swallow response","HP:0031162"]
["Low femoral bone density","HP:0031163"]
["Growth arrest lines","HP:0031164"]
["Multifocal seizures","HP:0031165"]
["Eyelid myokymia","HP:0031166"]
["Triggered by ingestion of potassium-rich food","HP:0031167"]
["Postterm pregnancy","HP:0031169"]
["Female fetal virilization","HP:0031170"]
["Femoral spur","HP:0031171"]
["Sectoral retinitis pigmentosa","HP:0031172"]
["Tibial spur","HP:0031173"]
["Double-layered patella","HP:0031174"]
["Absent cervical vertebra","HP:0031175"]
["Absent thoracic vertebra","HP:0031176"]
["Finger flexor weakness","HP:0031177"]
["Fixed head retroflexion","HP:0031178"]
["Nuchal rigidity","HP:0031179"]
["Erythema migrans","HP:0031180"]
["Necrolytic migratory erythema","HP:0031181"]
["Increased circulating NT-proBNP concentration","HP:0031185"]
["Abnormal circulating deoxycorticosterone level","HP:0031186"]
["Abnormal circulating pregnenolone concentration","HP:0031187"]
["Genital edema","HP:0031188"]
["Wrist drop","HP:0031189"]
["Superficial dermal perivascular inflammatory infiltrate","HP:0031190"]
["Deep dermal perivascular inflammatory infiltrate","HP:0031191"]
["Abnormal morphology of left ventricular trabeculae","HP:0031192"]
["Abnormal morphology of right ventricular trabeculae","HP:0031193"]
["Increased density of left ventricular trabeculae","HP:0031194"]
["Apical hypertrabeculation of the left ventricle","HP:0031195"]
["Thin myocardium compact layer","HP:0031196"]
["Cellular urinary casts","HP:0031197"]
["Renal tubular epithelial cell casts","HP:0031198"]
["Acellular urinary casts","HP:0031199"]
["Hyaline casts","HP:0031200"]
["Granular casts","HP:0031201"]
["Waxy casts","HP:0031202"]
["Fatty casts","HP:0031203"]
["Bacterial cell casts","HP:0031204"]
["Reduced lysosomal acid lipase activity","HP:0031205"]
["Striatal T2 hyperintensity","HP:0031206"]
["Hepatic hemangioma","HP:0031207"]
["Increased pituitary glycoprotein hormone alpha subunit level","HP:0031208"]
["Decreased circulating lipoprotein lipase concentration","HP:0031209"]
["Abnormal circulating hyaluronic acid concentration","HP:0031210"]
["Elevated cholesterol ester level","HP:0031211"]
["Abnormal circulating progesterone level","HP:0031212"]
["Elevated circulating 17-hydroxyprogesterone","HP:0031213"]
["Decreased circulating dehydroepiandrosterone concentration","HP:0031214"]
["Decreased circulating dehydroepiandrosterone-sulfate concentration","HP:0031215"]
["Increased circulating progesterone","HP:0031216"]
["Hot flashes","HP:0031217"]
["Inappropriate antidiuretic hormone secretion","HP:0031218"]
["Reduced radioactive iodine uptake","HP:0031219"]
["Increased radioactive iodine uptake","HP:0031220"]
["Abnormal radioactive iodine uptake test result","HP:0031221"]
["Increased circulating thyroxine-binding globulin level","HP:0031222"]
["Focal pancreatic islet hyperplasia","HP:0031223"]
["Diffuse pancreatic islet hyperplasia","HP:0031224"]
["Intrapulmonary shunt","HP:0031225"]
["Perinephric fluid collection","HP:0031226"]
["Nasopharyngeal teratoma","HP:0031227"]
["Abnormal incisura morphology","HP:0031228"]
["Increased incisura length","HP:0031229"]
["Decreased incisura length","HP:0031230"]
["Narrow incisura width","HP:0031231"]
["Increased incisura width","HP:0031232"]
["Horizontal inferior border of scapula","HP:0031233"]
["Neutrophilic infiltration of the skin","HP:0031234"]
["Predominantly epidermal neutrophilic infiltrate","HP:0031235"]
["Predominantly dermal neutrophilic infiltrate","HP:0031236"]
["Internally nucleated skeletal muscle fibers","HP:0031237"]
["Necklace skeletal muscle fibers","HP:0031238"]
["Extrafoveal choroidal neovascularization","HP:0031239"]
["Juxtafoveal choroidal neovascularization","HP:0031240"]
["Subfoveal choroidal neovascularization","HP:0031241"]
["Decreased circulating chylomicron concentration","HP:0031242"]
["Decreased VLDL cholesterol concentration","HP:0031243"]
["Swollen lip","HP:0031244"]
["Productive cough","HP:0031245"]
["Nonproductive cough","HP:0031246"]
["Whooping cough","HP:0031247"]
["Palmar pruritus","HP:0031248"]
["Parageusia","HP:0031249"]
["Lip fissure","HP:0031250"]
["Abnormal subclavian artery morphology","HP:0031251"]
["Dilated left subclavian artery","HP:0031252"]
["Anomalous origin of left subclavian artery","HP:0031253"]
["Thalamic arteriovenous malformation","HP:0031254"]
["Hypothalamic arteriovenous malformation","HP:0031255"]
["Optic nerve arteriovenous malformation","HP:0031256"]
["Arteriovenous malformation of the maxilla","HP:0031257"]
["Delirium","HP:0031258"]
["Oophoritis","HP:0031259"]
["Triangular tibia","HP:0031260"]
["Bladder polyp","HP:0031261"]
["Abnormal renal corpuscle morphology","HP:0031263"]
["Abnormal Bowman capsule morphology","HP:0031264"]
["Abnormal glomerular visceral epithelial cell morphology","HP:0031265"]
["Podocyte foot process effacement","HP:0031266"]
["Abnormal CD69 upregulation upon TCR activation","HP:0031267"]
["Decreased CD69 upregulation upon TCR activation","HP:0031268"]
["Abnormal CD25 upregulation upon TCR activation","HP:0031269"]
["Decreased CD25 upregulation upon TCR activation","HP:0031270"]
["Absent ankle pulse","HP:0031271"]
["Pulmonary arterial atherosclerosis","HP:0031272"]
["Shock","HP:0031273"]
["Hypovolemic shock","HP:0031274"]
["Distributive shock","HP:0031275"]
["Obstructive shock","HP:0031276"]
["Abnormal thoracic duct morphology","HP:0031278"]
["Abnormal response to gonadotropin-releasing hormone stimulation test","HP:0031279"]
["Increased LH response to gonadotropin-releasing hormone stimulation test","HP:0031280"]
["Sialadenitis","HP:0031281"]
["Malalignment of the great toenail","HP:0031282"]
["Tufted hairs","HP:0031283"]
["Flushing","HP:0031284"]
["Abnormal perifollicular morphology","HP:0031285"]
["Perifollicular erythema","HP:0031286"]
["Seborrheic keratosis","HP:0031287"]
["Cobblestone-like hyperkeratosis","HP:0031288"]
["White papule","HP:0031289"]
["Tuberous xanthoma","HP:0031290"]
["Ichthyosis follicularis","HP:0031291"]
["Cutaneous abscess","HP:0031292"]
["Digital pitting scar","HP:0031293"]
["Hypoplastic right atrium","HP:0031294"]
["Left atrial enlargement","HP:0031295"]
["Atrial septal hypertrophy","HP:0031296"]
["Unroofed coronary sinus","HP:0031297"]
["Coronary sinus enlargement","HP:0031298"]
["Elevated left atrial pressure","HP:0031299"]
["Abnormal circulating properdin level","HP:0031300"]
["Peripheral arterial calcification","HP:0031301"]
["Lower extremity peripheral arterial calcification","HP:0031302"]
["Femoral arterial calcification","HP:0031303"]
["Iliac arterial calcification","HP:0031304"]
["Tibial arterial calcification","HP:0031305"]
["Intracranial arterial calcification","HP:0031306"]
["Internal carotid artery calcification","HP:0031307"]
["Vertebral artery calcification","HP:0031308"]
["Cerebral artery calcification","HP:0031309"]
["Basilar artery calcification","HP:0031310"]
["Middle cerebral artery calcification","HP:0031311"]
["Abdominal aortic calcification","HP:0031313"]
["Carotid artery calcification","HP:0031314"]
["External carotid artery calcification","HP:0031315"]
["Abnormal ventricular myocardium morphology","HP:0031316"]
["Fatty replacement of ventricular myocardial tissue","HP:0031317"]
["Myofiber disarray","HP:0031318"]
["Cardiomyocyte hypertrophy","HP:0031319"]
["Cardiomyocyte mitochondrial proliferation","HP:0031320"]
["Myocardial immune cell infiltration","HP:0031321"]
["Myocardial lymphocytic infiltration","HP:0031322"]
["Myocardial eosinophilic infiltration","HP:0031323"]
["Myocardial multinucleated giant cells","HP:0031324"]
["Myocardial granulomatous infiltrates","HP:0031325"]
["Monoclonal light chain cardiac amyloidosis","HP:0031326"]
["Transthyretin cardiac amyloidosis","HP:0031327"]
["Perivascular cardiac fibrosis","HP:0031328"]
["Interstitial cardiac fibrosis","HP:0031329"]
["Perivascular myocardial immune cell infiltration","HP:0031330"]
["Abnormal cardiomyocyte morphology","HP:0031331"]
["Cardiomyocyte degeneration","HP:0031332"]
["Myocardial sarcomeric disarray","HP:0031333"]
["Cardiomyocyte inclusion bodies","HP:0031334"]
["Abnormal cardiomyocyte mitochondrial morphology","HP:0031335"]
["Intranuclear cardiomyocyte mitochondria","HP:0031336"]
["Abnormal cardiomyocyte connexin43 staining","HP:0031337"]
["Abnormal cardiomyocyte plakoglobin staining","HP:0031338"]
["Abnormal cadiomyocyte dystrophin staining","HP:0031339"]
["Abnormal lysosomal morphology","HP:0031340"]
["Gastric arteriovenous malformation","HP:0031341"]
["Duodenal arteriovenous malformation","HP:0031342"]
["Jejunal arteriovenous malformation","HP:0031343"]
["Pelvic arteriovenous malformation","HP:0031344"]
["Colonic arteriovenous malformation","HP:0031345"]
["Rectal arteriovenous malformation","HP:0031346"]
["Uterine arteriovenous malformation","HP:0031347"]
["Dextrotransposition of the great arteries","HP:0031348"]
["Levotransposition of the great arteries","HP:0031349"]
["Cardiac sarcoma","HP:0031350"]
["Calcified amorphous tumor of the heart","HP:0031351"]
["Chest tightness","HP:0031352"]
["Otitis media with effusion","HP:0031353"]
["Sleep onset insomnia","HP:0031354"]
["Maintenance insomnia","HP:0031355"]
["Terminal insomnia","HP:0031356"]
["Glomeruloid hemangioma","HP:0031357"]
["Vegetative state","HP:0031358"]
["Cutaneous sclerotic plaque","HP:0031359"]
["Yellow skin plaque","HP:0031360"]
["Zebra bodies","HP:0031361"]
["Sex-limited autosomal recessive inheritance","HP:0031362"]
["Palpable purpura","HP:0031363"]
["Ecchymosis","HP:0031364"]
["Macular purpura","HP:0031365"]
["Palate neoplasm","HP:0031366"]
["Metaphyseal striations","HP:0031367"]
["Intestinal perforation","HP:0031368"]
["Colon perforation","HP:0031369"]
["Small intestinal perforation","HP:0031370"]
["Rectal perforation","HP:0031371"]
["Cold paresis","HP:0031372"]
["Stiff tongue","HP:0031373"]
["Ankle weakness","HP:0031374"]
["Refractory","HP:0031375"]
["Abnormal cell proliferation","HP:0031377"]
["Abnormal lymphocyte proliferation","HP:0031378"]
["Abnormal T cell proliferation","HP:0031379"]
["Abnormal B cell proliferation","HP:0031380"]
["Decreased lymphocyte proliferation in response to mitogen","HP:0031381"]
["Decreased lymphocyte proliferation in response to anti-CD3","HP:0031382"]
["Abnormal lymphocyte surface marker expression","HP:0031383"]
["Reduced T cell CD40 expression","HP:0031384"]
["Megakaryocyte nucleus hypolobulation","HP:0031385"]
["Increased micromegakaryocyte count","HP:0031386"]
["Increased multinucleated megakaryocyte count","HP:0031387"]
["Megakaryocyte nucleus hyperlobulation","HP:0031388"]
["Abnormal MHC II surface expression","HP:0031389"]
["Reduced MHC II surface expression","HP:0031390"]
["Elevated MHC II surface expression","HP:0031391"]
["Abnormal proportion of CD4-positive T cells","HP:0031392"]
["Abnormal proportion of CD8-positive T cells","HP:0031393"]
["Abnormal CD4:CD8 ratio","HP:0031394"]
["Abnormal proportion of naive T cells","HP:0031396"]
["Decreased proportion of naive T cells","HP:0031397"]
["Increased proportion of naive T cells","HP:0031398"]
["Abnormal proportion of double-negative alpha-beta regulatory T cell","HP:0031399"]
["Reduced proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells","HP:0031401"]
["Reduced antigen-specific T cell proliferation","HP:0031402"]
["Impaired pathogen-specific CD8 cytoxicity","HP:0031403"]
["Impaired antigen-specific response","HP:0031404"]
["Poroma","HP:0031405"]
["Abnormal cytokine signaling","HP:0031406"]
["Impaired cytokine signaling","HP:0031407"]
["Increased proportion of CD25+ mast cells","HP:0031408"]
["Abnormal lymphocyte physiology","HP:0031409"]
["Abnormal distribution of CD56 bright/dim natural killer cells","HP:0031410"]
["Abnormal chromosome morphology","HP:0031411"]
["Abnormal telomere morphology","HP:0031412"]
["Short telomere length","HP:0031413"]
["High serum calcifediol","HP:0031414"]
["High serum calcitriol","HP:0031415"]
["Abnormal nasal mucus secretion","HP:0031416"]
["Rhinorrhea","HP:0031417"]
["Increased body mass index","HP:0031418"]
["Reduced sex -hormone binding protein level","HP:0031419"]
["Small yellow foveal lesion with surrounding gray zone","HP:0031420"]
["Small superior frontal cortex","HP:0031421"]
["Abnormal cerebellar cortex morphology","HP:0031422"]
["Small cerebellar cortex","HP:0031423"]
["Abnormal circulating beta-C-terminal telopeptide level","HP:0031424"]
["Increased circulating beta-C-terminal telopeptide level","HP:0031425"]
["Decreased circulating beta-C-terminal telopeptide level","HP:0031426"]
["Abnormal circulating osteocalcin level","HP:0031427"]
["Increased circulating osteocalcin level","HP:0031428"]
["Decreased circulating osteocalcin level","HP:0031429"]
["Oligoclonal T cell expansion","HP:0031430"]
["Persistent repetition of words","HP:0031431"]
["Persistent repetition of actions","HP:0031432"]
["Alexithymia","HP:0031433"]
["Abnormal speech prosody","HP:0031434"]
["Monotonic speech","HP:0031435"]
["Increased pitch variability of speech","HP:0031436"]
["Pregnancy exposure","HP:0031437"]
["Abnormal sex hormone-binding globulin level","HP:0031438"]
["Abnormal angiostatin level","HP:0031439"]
["obsolete Abnormal tricuspid valve morphology","HP:0031440"]
["Abnormal tricuspid valve annulus morphology","HP:0031441"]
["Abnormal tricuspid chordae tendinae morphology","HP:0031442"]
["Abnormal tricuspid valve leaflet morphology","HP:0031443"]
["Dilatation of the tricuspid annulus","HP:0031444"]
["Oral mucosa nodule","HP:0031445"]
["Erosion of oral mucosa","HP:0031446"]
["Penile freckling","HP:0031447"]
["Herpetiform vesicles","HP:0031448"]
["Perineal hemangioma","HP:0031449"]
["Polycyclic","HP:0031450"]
["Lower extremity subcutanous fat hypertrophy","HP:0031451"]
["Lichenoid skin lesion","HP:0031452"]
["Oral lichenoid lesion","HP:0031453"]
["Apocrine hidrocystoma","HP:0031454"]
["Presacral ganglioneuroma","HP:0031455"]
["Ectopic pregnancy","HP:0031456"]
["Pulmonary opacity","HP:0031457"]
["Adenoiditis","HP:0031458"]
["Soft tissue neoplasm","HP:0031459"]
["Benign muscle neoplasm","HP:0031460"]
["Intramuscular Myxoma","HP:0031461"]
["Musculotendinous retraction","HP:0031462"]
["Esophageal squamous papilloma","HP:0031463"]
["Genital blistering","HP:0031464"]
["Abnormal vasa vasorum morphology","HP:0031465"]
["Impairment in personality functioning","HP:0031466"]
["Negative affectivity","HP:0031467"]
["Separation insecurity","HP:0031468"]
["Low self esteem","HP:0031469"]
["Risk taking","HP:0031472"]
["Hostility","HP:0031473"]
["Pulmonary chondroma","HP:0031474"]
["Status epilepticus without prominent motor symptoms","HP:0031475"]
["Abnormal buccal mucosa cell morphology","HP:0031476"]
["obsolete Abnormal mitral valve morphology","HP:0031477"]
["Abnormal mitral valve annulus morphology","HP:0031478"]
["Dilatation of the mitral annulus","HP:0031479"]
["Abnormal mitral valve leaflet morphology","HP:0031480"]
["Abnormal mitral valve physiology","HP:0031481"]
["Abnormal regional left ventricular contraction","HP:0031482"]
["Reduced contraction of the left ventricular apex","HP:0031483"]
["Cold-induced hemolysis","HP:0031484"]
["Subperiosteal bone formation","HP:0031485"]
["Vascular malformation of the lip","HP:0031486"]
["Capillary malformation of the lip","HP:0031487"]
["Arteriovenous malformation of the lip","HP:0031488"]
["Venous malformation of the lip","HP:0031489"]
["Hemangioma of the lip","HP:0031490"]
["Continuous spike and waves during slow sleep","HP:0031491"]
["Epithelial neoplasm","HP:0031492"]
["Glandular cell neoplasm","HP:0031493"]
["Ovarian mucinous tumor","HP:0031494"]
["Mucinous neoplasm","HP:0031495"]
["Mucinous cystic neoplasm of the pancreas","HP:0031496"]
["Mucinous colorectal carcinoma","HP:0031497"]
["Mucinous gastric carcinoma","HP:0031498"]
["Appendiceal mucinous neoplasm","HP:0031499"]
["Abdominal mass","HP:0031500"]
["Pelvic mass","HP:0031501"]
["Trophoblastic tumor","HP:0031502"]
["Night gasping","HP:0031503"]
["Foamy urine","HP:0031504"]
["Abnormal circulating T4 level","HP:0031505"]
["Increased circulating T4 level","HP:0031506"]
["Decreased circulating T4 level","HP:0031507"]
["Abnormal thyroid hormone level","HP:0031508"]
["Dry nipple","HP:0031509"]
["Linear earlobe crease","HP:0031510"]
["Diagonal earlobe crease","HP:0031511"]
["Abnormal cutaneous collagen fibril morphology","HP:0031512"]
["Luse bodies","HP:0031513"]
["Increased proportion of exhausted T cells","HP:0031514"]
["Abnormal meiosis","HP:0031515"]
["Oocyte arrest at metaphase I","HP:0031516"]
["Verruciform xanthoma","HP:0031517"]
["Absent posterior alpha rhythm","HP:0031518"]
["Cauliflower deformity of dermal collagen fibrils","HP:0031519"]
["Groin pain","HP:0031520"]
["Vaginal clear cell adenocarcinoma","HP:0031521"]
["Cervical clear cell adenocarcinoma","HP:0031522"]
["Salivary gland oncocytoma","HP:0031523"]
["Ampulla of Vater carcinoma","HP:0031524"]
["Keratoacanthoma","HP:0031525"]
["Subretinal fluid","HP:0031526"]
["Intraretinal fluid","HP:0031527"]
["Subretinal deposits","HP:0031528"]
["Focal subretinal deposits","HP:0031529"]
["Multifocal subretinal deposits","HP:0031530"]
["Sub-RPE deposits","HP:0031531"]
["Focal sub-RPE deposits","HP:0031532"]
["Multifocal sub-RPE deposits","HP:0031533"]
["Passive dorsiflexion of the 5th finger more than 90 degrees","HP:0031534"]
["Increased theta frequency activity in EEG","HP:0031535"]
["Separate origin of the left anterior descending and left circumflex artery","HP:0031536"]
["Anomalous origin of the left circumflex artery from the right coronary artery","HP:0031537"]
["Abnormal dermoepidermal junction morphology","HP:0031538"]
["Linear IgA deposits along the epidermal basement membrane zone","HP:0031539"]
["Linear IgG deposits along the epidermal basement membrane zone","HP:0031540"]
["Linear C3 deposits along the epidermal basement membrane zone","HP:0031541"]
["Myelin-like whorls in vacuolated fibers","HP:0031542"]
["Elevated circulating palmitoleylcarnitine concentration","HP:0031544"]
["Abnormally low T cell receptor excision circle level","HP:0031545"]
["Cardiac conduction abnormality","HP:0031546"]
["Abnormal QT interval","HP:0031547"]
["Follicular infundibulum tumor","HP:0031548"]
["Lymphocytoma cutis","HP:0031549"]
["Abnormal flow cytometry test result","HP:0031550"]
["Reduced cell surface marker level","HP:0031551"]
["Reduced fibroblast surface marker level","HP:0031552"]
["Reduced granulocyte surface marker level","HP:0031553"]
["Reduced granulocyte CD55 level","HP:0031554"]
["Reduced granulocyte CD59 level","HP:0031555"]
["Reduced granulocyte CD16 level","HP:0031556"]
["Reduced fibroblast CD55 level","HP:0031557"]
["Reduced fibroblast CD59 level","HP:0031558"]
["Reduced fibroblast CD16 level","HP:0031559"]
["Coronary cameral fistula","HP:0031560"]
["Coronary cameral fistula to right ventricle","HP:0031561"]
["Balanced double aortic arch","HP:0031562"]
["Coronary arteriovenous fistula","HP:0031563"]
["Bronchial isomerism","HP:0031564"]
["Abdominal situs ambiguus","HP:0031565"]
["Abnormal pulmonary valve cusp morphology","HP:0031566"]
["Abnormal aortic valve cusp morphology","HP:0031567"]
["Thickened aortic valve cusp","HP:0031568"]
["Absent aortic valve cusps","HP:0031569"]
["Tessier number 0 facial cleft","HP:0031570"]
["Paramedian facial cleft","HP:0031571"]
["Tessier number 1 facial cleft","HP:0031572"]
["Tessier number 2 facial cleft","HP:0031573"]
["Orbital cleft","HP:0031574"]
["Tessier number 3 facial cleft","HP:0031575"]
["Tessier number 4 facial cleft","HP:0031576"]
["Tessier number 5 facial cleft","HP:0031577"]
["Tessier number 6 facial cleft","HP:0031578"]
["Tessier number 7 facial cleft","HP:0031579"]
["Tessier number 8 facial cleft","HP:0031580"]
["Tessier number 9 facial cleft","HP:0031581"]
["Tessier number 10 facial cleft","HP:0031582"]
["Tessier number 11 facial cleft","HP:0031583"]
["Tessier number 12 facial cleft","HP:0031584"]
["Tessier number 13 facial cleft","HP:0031585"]
["Tessier number 14 facial cleft","HP:0031586"]
["Tessier number 30 facial cleft","HP:0031587"]
["Unhappy demeanor","HP:0031588"]
["Suicidal ideation","HP:0031589"]
["Asthenopia","HP:0031590"]
["Enlarged Eustachian valve","HP:0031591"]
["Situs inversus with levocardia","HP:0031592"]
["Abnormal PR interval","HP:0031593"]
["PR segment depression","HP:0031594"]
["Abnormal P wave","HP:0031595"]
["Abnormal PR segment","HP:0031596"]
["PR segment elevation","HP:0031597"]
["Notched P wave","HP:0031598"]
["P mitrale","HP:0031599"]
["P wave inversion","HP:0031600"]
["P pulmonale","HP:0031601"]
["Abnormal mucociliary clearance","HP:0031602"]
["Impaired nasal mucociliary clearance","HP:0031603"]
["Agenesis of the carotid canal","HP:0031604"]
["Abnormality of fundus pigmentation","HP:0031605"]
["Retinal cotton wool spot","HP:0031606"]
["Pelvic organ prolapse","HP:0031607"]
["Geographic atrophy","HP:0031609"]
["Recurrent shoulder dislocation","HP:0031610"]
["Sub-inner limiting membrane hemorrhage","HP:0031611"]
["Inferior chorioretinal coloboma","HP:0031613"]
["Inferior retinal coloboma","HP:0031614"]
["Hypopyon","HP:0031615"]
["Anterior chamber flare","HP:0031616"]
["Anterior chamber flare grade 1+","HP:0031618"]
["Anterior chamber flare grade 2+","HP:0031619"]
["Anterior chamber flare grade 3+","HP:0031620"]
["Anterior chamber flare grade 4+","HP:0031621"]
["Brown anomaly","HP:0031622"]
["Brow ptosis","HP:0031623"]
["Moderate myopia","HP:0031624"]
["Pseudoaneurysm","HP:0031625"]
["Coronary ostial atresia","HP:0031626"]
["Globus pallidus calcification","HP:0031627"]
["Aborted sudden cardiac death","HP:0031628"]
["Impaired tandem gait","HP:0031629"]
["Abnormal subpleural morphology","HP:0031630"]
["Subpleural honeycombing","HP:0031631"]
["Anomalous origin of the right subclavian artery from the descending aorta","HP:0031632"]
["Isolation of the left subclavian artery","HP:0031633"]
["Anomalous origin of the left common carotid artery from the main pulmonary artery","HP:0031634"]
["Anomalous origin of the left common carotid artery from the brachiocephalic artery","HP:0031635"]
["Anomalous origin of the right common carotid artery from the aorta","HP:0031636"]
["Right coronary artery ostial atresia","HP:0031637"]
["Anomalous origin of the left anterior descending artery from the pulmonary artery","HP:0031638"]
["Absent left main coronary artery","HP:0031639"]
["Abnormal radial artery morphology","HP:0031640"]
["Fusiform ascending tubular aorta aneurysm","HP:0031643"]
["Fusiform abdominal aortic aneurysm","HP:0031644"]
["Saccular abdominal aortic aneurysm","HP:0031645"]
["Fusiform aortic arch aneurysm","HP:0031646"]
["Saccular aortic arch aneurysm","HP:0031647"]
["Penetrating aortic ulcer","HP:0031648"]
["Aortic rupture","HP:0031649"]
["Abnormal atrioventricular valve physiology","HP:0031650"]
["Abnormal tricuspid valve physiology","HP:0031651"]
["Abnormal aortic valve physiology","HP:0031652"]
["Abnormal heart valve physiology","HP:0031653"]
["Abnormal pulmonary valve physiology","HP:0031654"]
["Quadricuspid aortic valve","HP:0031655"]
["Systolic anterior motion of the mitral valve","HP:0031656"]
["Abnormal heart sound","HP:0031657"]
["Third heart sound","HP:0031658"]
["Fourth heart sound","HP:0031659"]
["Loud first heart sound","HP:0031660"]
["Abnormal second heart sound","HP:0031661"]
["Fixed splitting of the second heart sound","HP:0031662"]
["Paradoxical splitting of the second heart sound","HP:0031663"]
["Systolic heart murmur","HP:0031664"]
["Midsystolic murmur","HP:0031665"]
["Late systolic murmur","HP:0031666"]
["Holosystolic murmur","HP:0031667"]
["Diastolic heart murmur","HP:0031668"]
["Middiastolic murmur","HP:0031669"]
["Continuous heart murmur","HP:0031670"]
["Typical atrial flutter","HP:0031671"]
["Reverse typical atrial flutter","HP:0031672"]
["Orthodromic atrioventricular reentrant tachycardia","HP:0031673"]
["Antidromic atrioventricular reentrant tachycardia","HP:0031674"]
["Fascicular left ventricular tachycardia","HP:0031675"]
["Monomorphic ventricular tachycardia","HP:0031676"]
["Polymorphic ventricular tachycardia","HP:0031677"]
["Atherosclerotic lesion","HP:0031678"]
["Type I atherosclerotic lesion","HP:0031679"]
["Type II atherosclerotic lesion","HP:0031680"]
["Type III atherosclerotic lesion","HP:0031681"]
["Type V atherosclerotic lesion","HP:0031682"]
["Type VI atherosclerotic lesion","HP:0031683"]
["Renal artery atherosclerosis","HP:0031684"]
["Abnormal stool composition","HP:0031685"]
["Increased stool alpha1-antitrypsin concentration","HP:0031686"]
["Abnormally loud pulmonic component of the second heart sound","HP:0031687"]
["Erythroid dysplasia","HP:0031688"]
["Megakaryocyte dysplasia","HP:0031689"]
["Opportunistic infection","HP:0031690"]
["Severe viral infection","HP:0031691"]
["Severe cytomegalovirus infection","HP:0031692"]
["Severe Epstein Barr virus infection","HP:0031693"]
["Severe adenovirus infection","HP:0031694"]
["Severe parainfluenza infection","HP:0031695"]
["Disseminated viral infection","HP:0031696"]
["Disseminated infection with live vaccine virus","HP:0031697"]
["obsolete Disseminated Bacillus Calmette-Guerin infection","HP:0031698"]
["Disseminated cryptosporidium infection","HP:0031699"]
["Invasive parasitic infection","HP:0031700"]
["Anterior chamber inflammatory cells","HP:0031701"]
["Anterior chamber red blood cells","HP:0031702"]
["Abnormal ear morphology","HP:0031703"]
["Abnormal ear physiology","HP:0031704"]
["Compensatory head posture","HP:0031705"]
["Compensatory chin depression","HP:0031706"]
["Compensatory face turn to the right","HP:0031707"]
["Compensatory face turn to the left","HP:0031708"]
["Compensatory head tilt to the right shoulder","HP:0031709"]
["Compensatory head tilt to the left shoulder","HP:0031710"]
["Asymmetric abdominal aortic aneurysm","HP:0031711"]
["Constant exotropia","HP:0031713"]
["Distance exotropia","HP:0031714"]
["Near exotropia","HP:0031715"]
["Cyclic exotropia","HP:0031716"]
["Alternating exotropia","HP:0031717"]
["Consecutive exotropia","HP:0031718"]
["True distance exotropia","HP:0031719"]
["Simulated distance exotropia","HP:0031720"]
["Sensory exotropia","HP:0031721"]
["Near esotropia","HP:0031722"]
["Secondary esotropia","HP:0031723"]
["Microtropia","HP:0031724"]
["Hypophoria","HP:0031725"]
["Incyclotropia","HP:0031726"]
["Excyclotropia","HP:0031727"]
["Mild hypermetropia","HP:0031728"]
["Moderate hypermetropia","HP:0031729"]
["Axial myopia","HP:0031730"]
["Increased tear production","HP:0031731"]
["Increased basal tear production","HP:0031732"]
["Reflex tearing","HP:0031733"]
["Lacrimal pump failure","HP:0031734"]
["Involutional entropion","HP:0031736"]
["Cicatricial entropion","HP:0031737"]
["Mechanical entropion","HP:0031738"]
["Abnormal oblique muscle physiology","HP:0031739"]
["Abnormal horizontal rectus muscle physiology","HP:0031740"]
["Inferior oblique muscle underaction","HP:0031741"]
["Inferior rectus muscle underaction","HP:0031742"]
["Inferior rectus muscle overaction","HP:0031743"]
["Superior rectus muscle weakness","HP:0031744"]
["Superior rectus muscle overaction","HP:0031745"]
["Superior rectus muscle restriction","HP:0031746"]
["Superior rectus muscle underaction","HP:0031747"]
["Abnormal vertical rectus muscle physiology","HP:0031748"]
["Abnormal lateral rectus muscle physiology","HP:0031749"]
["Lateral rectus muscle weakness","HP:0031750"]
["Lateral rectus muscle underaction","HP:0031751"]
["Lateral rectus muscle overaction","HP:0031752"]
["Medial rectus muscle weakness","HP:0031753"]
["Medial rectus muscle overaction","HP:0031754"]
["Abnormal rectus muscle physiology","HP:0031755"]
["Medial rectus muscle underaction","HP:0031756"]
["Medial rectus muscle restriction","HP:0031757"]
["Lateral rectus muscle restriction","HP:0031758"]
["Basic constant esotropia","HP:0031759"]
["Non-accomodative esotropia","HP:0031760"]
["Infantile constant esotropia","HP:0031761"]
["Distance esotropia","HP:0031762"]
["Cyclic esotropia","HP:0031763"]
["Fully accomodative esotropia","HP:0031764"]
["Partially accomodative esotropia","HP:0031765"]
["Convergence excess esotropia","HP:0031766"]
["Consecutive esotropia","HP:0031767"]
["Parafoveal fixation","HP:0031768"]
["Peripheral fixation","HP:0031769"]
["Epicanthus palpebralis","HP:0031770"]
["Epicanthus tarsalis","HP:0031771"]
["Abnormal posterior circulating artery morphology","HP:0031772"]
["Posterior communicating artery aneurysm","HP:0031773"]
["Posterior communicating artery infundibulum","HP:0031774"]
["Neurogenic strabismus","HP:0031775"]
["Cyclotropia","HP:0031776"]
["Cyclophoria","HP:0031777"]
["Incyclophoria","HP:0031778"]
["Excyclophoria","HP:0031779"]
["Eosinophilic ascites","HP:0031780"]
["Microtropia with identity","HP:0031781"]
["Microtropia without identity","HP:0031782"]
["Absent coronary sinus","HP:0031783"]
["Abnormal ascending aorta morphology","HP:0031784"]
["Abnormal eyelid movement","HP:0031785"]
["Cogan lid twitch","HP:0031786"]
["Oblique astigmatism","HP:0031787"]
["With the rule astigmatism","HP:0031788"]
["Against the rule astigmatism","HP:0031789"]
["Mixed astigmatism","HP:0031790"]
["Lenticular astigmatism","HP:0031791"]
["Irregular astigmatism","HP:0031792"]
["Increased serum leptin","HP:0031793"]
["Decreased circulating glycerol level","HP:0031794"]
["Abnormal circulating glycerol level","HP:0031795"]
["Recurrent","HP:0031796"]
["Clinical course","HP:0031797"]
["Elevated circulating apolipoprotein B concentration","HP:0031798"]
["Decreased circulating apolipoprotein AI concentration","HP:0031799"]
["Elevated circulating apolipoprotein A-II concentration","HP:0031800"]
["Vocal cord dysfunction","HP:0031801"]
["Fundus hemorrhage","HP:0031803"]
["Premacular hemorrhage","HP:0031804"]
["Intraretinal hemorrhage","HP:0031805"]
["Abnormal basophil count","HP:0031806"]
["Increased basophil count","HP:0031807"]
["Decreased basophil count","HP:0031808"]
["Archibald's sign","HP:0031809"]
["Anti-ganglioside antibody positivity","HP:0031810"]
["Bilirubinuria","HP:0031811"]
["Nitrituria","HP:0031812"]
["Colonic eosinophilia","HP:0031813"]
["Palilalia","HP:0031814"]
["Abnormal oral physiology","HP:0031815"]
["Abnormal oral morphology","HP:0031816"]
["Decreased circulating parathyroid hormone level","HP:0031817"]
["Abnormal waist to hip ratio","HP:0031818"]
["Increased waist to hip ratio","HP:0031819"]
["Decreased waist to hip ratio","HP:0031820"]
["Abnormal hypoxanthine-guanine phosphoribosyltransferase level","HP:0031821"]
["Elevated hypoxanthine-guanine phosphoribosyltransferase level","HP:0031822"]
["Reduced hypoxanthine-guanine phosphoribosyltransferase level","HP:0031823"]
["Hepatic mastocytosis","HP:0031824"]
["Freezing of gait","HP:0031825"]
["Abnormal reflex","HP:0031826"]
["Absent abdominal reflex","HP:0031827"]
["Abnormal superficial reflex","HP:0031828"]
["Absent cremaster reflex","HP:0031829"]
["Pinguecula","HP:0031830"]
["Decreased serum zinc","HP:0031831"]
["Hypermetric downward saccades","HP:0031832"]
["Hypometric upward saccades","HP:0031833"]
["Aortopulmonary collateral arteries","HP:0031834"]
["Abnormal superoxide dismutase level","HP:0031835"]
["Increased superoxide dismutase level","HP:0031836"]
["Decreased superoxide dismutase level","HP:0031837"]
["Presence of xenobiotic","HP:0031838"]
["Urine xenobiotic","HP:0031840"]
["Positive urine methadone test","HP:0031841"]
["Lymphangiectasis","HP:0031842"]
["Bradyphrenia","HP:0031843"]
["Euphoria","HP:0031844"]
["Abnormal libido","HP:0031845"]
["Femur fracture","HP:0031846"]
["Difficulty walking backward","HP:0031847"]
["Cock-walk gait","HP:0031848"]
["Sleep-wake inversion","HP:0031849"]
["Abnormal hematocrit","HP:0031850"]
["Reduced hematocrit","HP:0031851"]
["Isomerism","HP:0031853"]
["Left Isomerism","HP:0031854"]
["Right isomerism","HP:0031855"]
["Hobby horse gait","HP:0031856"]
["Ineffective esophageal peristalsis","HP:0031857"]
["Esophageal furrows","HP:0031858"]
["Abnormal heart rate variability","HP:0031860"]
["Decreased heart rate variability","HP:0031861"]
["Increased heart rate variability","HP:0031862"]
["Bloodstream infectious agent","HP:0031863"]
["Bacteremia","HP:0031864"]
["Abnormal liver physiology","HP:0031865"]
["Clasp-knife sign","HP:0031866"]
["Neck hypertonia","HP:0031867"]
["Optic ataxia","HP:0031868"]
["Recurrent joint dislocation","HP:0031869"]
["Phosphohydroxylysinuria","HP:0031870"]
["Abnormal Langerhans cell morphology","HP:0031871"]
["Absent Birbeck granules in Langerhans cells","HP:0031872"]
["Early chronotype","HP:0031873"]
["Late chronotype","HP:0031874"]
["Abnormal hepcidin level","HP:0031875"]
["Decreased hepcidin level","HP:0031876"]
["Elevated hepcidin level","HP:0031877"]
["Acromicria","HP:0031878"]
["Abnormal eyelid physiology","HP:0031879"]
["Eyelid laxity","HP:0031880"]
["Decreased tear drainage","HP:0031881"]
["Agyria","HP:0031882"]
["Increased proinsulin:insulin ratio","HP:0031883"]
["Abnormal CSF glucose level","HP:0031884"]
["Hyperglycorrhachia","HP:0031885"]
["Abnormal LDL cholesterol concentration","HP:0031886"]
["Abnormal chylomicron concentration","HP:0031887"]
["Abnormal HDL cholesterol concentration","HP:0031888"]
["Abnormal VLDL cholesterol concentration","HP:0031889"]
["Increased urine urobilinogen","HP:0031890"]
["Decreased eosinophil count","HP:0031891"]
["Rouleaux formation","HP:0031898"]
["Abnormal coagulation factor V activity","HP:0031899"]
["obsolete Abnormal serum tryptase concentration","HP:0031900"]
["Elevated total serum tryptase","HP:0031901"]
["obsolete Decreased serum mast cell beta-tryptase concentration","HP:0031902"]
["Abnormal circulating selenium concentration","HP:0031903"]
["Abnormal total hemolytic complement activity","HP:0031904"]
["Increased total hemolytic complement activity","HP:0031905"]
["Decreased total hemolytic complement activity","HP:0031906"]
["Anti-mitochondrial M2 antibody positivity","HP:0031907"]
["Micrographia","HP:0031908"]
["Unicornuate uterus","HP:0031909"]
["Abnormal cranial nerve physiology","HP:0031910"]
["Abnormal fifth cranial nerve physiology","HP:0031911"]
["Trigeminal anesthesia","HP:0031912"]
["Rhombencephalosynapsis","HP:0031913"]
["Fluctuating","HP:0031914"]
["Stable","HP:0031915"]
["Digital ulcer","HP:0031917"]
["Ovarian sex cord-stromal tumor","HP:0031918"]
["Juvenile type ovarian granulosa cell tumor","HP:0031919"]
["Malignant ovarian granulosa cell tumor","HP:0031920"]
["Gastrocnemius myalgia","HP:0031921"]
["Renal artery duplication","HP:0031922"]
["Hematocolpos","HP:0031923"]
["Rope sign","HP:0031924"]
["Rosette","HP:0031925"]
["Homer Wright rosette","HP:0031926"]
["Flexner-Wintersteiner rosette","HP:0031927"]
["True ependymal rosette","HP:0031928"]
["Perivascular pseudorosette","HP:0031929"]
["Neurocytic rosette","HP:0031930"]
["Ocular flutter","HP:0031931"]
["Aorto-left ventricular tunnel","HP:0031932"]
["Aorto-right ventricular tunnel","HP:0031933"]
["Abnormal descending aorta morphology","HP:0031934"]
["Ascending aorta hypoplasia","HP:0031935"]
["Delayed ability to walk","HP:0031936"]
["Tachylalia","HP:0031937"]
["Abnormal conus terminalis morphology","HP:0031938"]
["Conus terminalis arteriovenous malformation","HP:0031939"]
["Abnormal portal venous system morphology","HP:0031941"]
["Congenital absence of portal vein","HP:0031942"]
["Akathisia","HP:0031943"]
["Pleural thickening","HP:0031944"]
["Elevated N,N-dimethylglycine level","HP:0031945"]
["Elevated urinary N,N-dimethylglycine level","HP:0031946"]
["Tongue tremor","HP:0031947"]
["Snowball lesion of corpus callosum","HP:0031948"]
["Recurrent bacterial upper respiratory tract infections","HP:0031949"]
["Usual interstitial pneumonia","HP:0031950"]
["Nocturnal seizures","HP:0031951"]
["Neurogenic claudication","HP:0031952"]
["Cautious gait","HP:0031953"]
["Dystonic gait","HP:0031954"]
["Antalgic gait","HP:0031955"]
["Elevated circulating aspartate aminotransferase concentration","HP:0031956"]
["Spastic hemiparetic gait","HP:0031957"]
["Spastic paraparetic gait","HP:0031958"]
["Leg dystonia","HP:0031959"]
["Arm dystonia","HP:0031960"]
["Abnormal serum anion gap","HP:0031961"]
["Elevated serum anion gap","HP:0031962"]
["Decreased serum anion gap","HP:0031963"]
["Elevated circulating alanine aminotransferase concentration","HP:0031964"]
["Increased RBC distribution width","HP:0031965"]
["Cloudy urine","HP:0031967"]
["Reduced blood urea nitrogen","HP:0031969"]
["Abnormal blood urea nitrogen concentration","HP:0031970"]
["Subaortic ventricular septal bulge","HP:0031971"]
["Presyncope","HP:0031972"]
["Increased vertical cup-to-disc ratio","HP:0031973"]
["Increased vertical cup-to-disc ratio - 0.6","HP:0031974"]
["Increased vertical cup-to-disc ratio - 0.7","HP:0031975"]
["Increased vertical cup-to-disc ratio - 0.8","HP:0031976"]
["Increased vertical cup-to-disc ratio - 0.9","HP:0031977"]
["Increased vertical cup-to-disc ratio - 1.0","HP:0031978"]
["Abnormal urine carbohydrate level","HP:0031979"]
["Abnormal urine carboxylic acid level","HP:0031980"]
["Elevated urine glycolate","HP:0031981"]
["Abnormal putamen morphology","HP:0031982"]
["Abnormal pulmonary thoracic imaging finding","HP:0031983"]
["Esophageal food impaction","HP:0031984"]
["Esophageal exudate","HP:0031985"]
["Polyminimyoclonus","HP:0031986"]
["Diminished ability to concentrate","HP:0031987"]
["obsolete Muscle spasm","HP:0031988"]
["Perioral spasm","HP:0031989"]
["Chvostek sign","HP:0031990"]
["Increased urinary excretion of galactosyl hydroxylysine","HP:0031991"]
["Apical hypertrophic cardiomyopathy","HP:0031992"]
["Hoffmann sign","HP:0031993"]
["Bronchial breath sound","HP:0031994"]
["Squawks","HP:0031995"]
["Inspiratory crackles","HP:0031996"]
["Early inspiratory crackles","HP:0031997"]
["Late inspiratory crackles","HP:0031998"]
["Expiratory crackles","HP:0031999"]
["Pleural rub","HP:0032000"]
["Pink urine","HP:0032001"]
["Orange urine","HP:0032002"]
["Green urine","HP:0032003"]
["Pruritus vulvae","HP:0032004"]
["Hemidystonia","HP:0032005"]
["Lip tremor","HP:0032006"]
["Maceration","HP:0032007"]
["Pulmonary fat embolism","HP:0032008"]
["Infantile constant exotropia","HP:0032009"]
["Basic constant exotropia","HP:0032010"]
["Heterophoria","HP:0032011"]
["Heterotropia","HP:0032012"]
["Hypermetric horizontal saccades","HP:0032013"]
["Dysmetric vertical saccades","HP:0032014"]
["Dysmetric horizontal saccades","HP:0032015"]
["Abnormal sputum","HP:0032016"]
["Sputum eosinophilia","HP:0032017"]
["Multiple mononeuropathy","HP:0032018"]
["Muscle eosinophilia","HP:0032019"]
["Eosinophilic bladder infiltration","HP:0032020"]
["Eosinophilic liver infiltration","HP:0032021"]
["Eosinophilic dermal infiltration","HP:0032022"]
["Eosinophilic gallbladder infiltration","HP:0032023"]
["Ileal ulcer","HP:0032024"]
["Reduced serum alpha-1-antitrypsin","HP:0032025"]
["Anetoderma","HP:0032026"]
["Retinal dots","HP:0032027"]
["Macular dots","HP:0032028"]
["Floppy eyelid","HP:0032029"]
["Lateral canthal tendon laxity","HP:0032030"]
["Medial canthal tendon laxity","HP:0032031"]
["Horizontal eyelid laxity","HP:0032032"]
["Vertical eyelid laxity","HP:0032033"]
["Upper eyelid laxity","HP:0032034"]
["Lower eyelid laxity","HP:0032035"]
["Abnormal contrast sensitivity","HP:0032036"]
["Mildly reduced visual acuity","HP:0032037"]
["Abnormality of the ocular adnexa","HP:0032039"]
["Abnormal ocular adnexa physiology","HP:0032040"]
["Vocal cord polyp","HP:0032041"]
["Odynophagia","HP:0032043"]
["Decreased vigilance","HP:0032044"]
["Hypoplastic carotid canal","HP:0032045"]
["Focal cortical dysplasia","HP:0032046"]
["Focal cortical dysplasia type I","HP:0032047"]
["Focal cortical dysplasia type Ia","HP:0032048"]
["Focal cortical dysplasia type Ib","HP:0032049"]
["Focal cortical dysplasia type Ic","HP:0032050"]
["Focal cortical dysplasia type II","HP:0032051"]
["Focal cortical dysplasia type IIa","HP:0032052"]
["Focal cortical dysplasia type IIb","HP:0032053"]
["Focal cortical dysplasia type III","HP:0032054"]
["Focal cortical dysplasia type IIIa","HP:0032055"]
["Focal cortical dysplasia type IIIb","HP:0032056"]
["Focal cortical dysplasia type IIIc","HP:0032057"]
["Focal cortical dysplasia type IIId","HP:0032058"]
["Mild malformation of cortical development","HP:0032059"]
["Epithelioid hemangioma","HP:0032060"]
["Hypereosinophilia","HP:0032061"]
["Mallory-Weiss tear","HP:0032062"]
["Ankle joint effusion","HP:0032063"]
["Gastrointestinal eosinophilia","HP:0032064"]
["Abnormal serum bicarbonate concentration","HP:0032065"]
["Decreased serum bicarbonate concentration","HP:0032066"]
["Elevated serum bicarbonate concentration","HP:0032067"]
["Increased urinary mucus","HP:0032068"]
["Anti-thyroglobulin antibody positivity","HP:0032069"]
["Leptomeningeal enhancement","HP:0032070"]
["Eosinophilic pneumonia","HP:0032071"]
["Popliteal synovial cyst","HP:0032072"]
["Aplasia of the fallopian tube","HP:0032073"]
["Splenopancreatic fusion","HP:0032075"]
["Abnormal male urethral meatus morphology","HP:0032076"]
["Male urethral meatus stenosis","HP:0032077"]
["Angel-shaped phalanx","HP:0032078"]
["Medial degeneration","HP:0032079"]
["Intralamellar mucoid extracellular matrix accumulation","HP:0032081"]
["Translamellar mucoid extracellular matrix accumulation","HP:0032082"]
["Aortic elastic fiber fragmentation","HP:0032083"]
["Aortic elastic fiber thinning","HP:0032084"]
["Aortic elastic fiber disorganization","HP:0032085"]
["Aortic smooth muscle cell nuclei loss","HP:0032086"]
["Aortic laminar medial collapse","HP:0032087"]
["Aortic smooth muscle cell disorganization","HP:0032088"]
["Aortic medial fibrosis","HP:0032089"]
["Intralamellar aortic medial fibrosis","HP:0032090"]
["Translamellar aortic medial fibrosis","HP:0032091"]
["Left ventricular outflow tract obstruction","HP:0032092"]
["Increased circulating surfactant protein level","HP:0032094"]
["Abnormal manganese concentration","HP:0032096"]
["Hypermanganesemia","HP:0032097"]
["Hypomanganesemia","HP:0032098"]
["Perioral radial furrowing","HP:0032099"]
["Abnormal doll's eye reflex","HP:0032100"]
["Unusual infection","HP:0032101"]
["Wilson sign","HP:0032102"]
["Saccadic oscillation","HP:0032104"]
["Macrosaccadic oscillations","HP:0032105"]
["Conjunctival icterus","HP:0032106"]
["Limbal stem cell deficiency","HP:0032107"]
["Mildly reduced contrast sensitivity","HP:0032108"]
["Moderately reduced contrast sensitivity","HP:0032109"]
["Severely reduced contrast sensitivity","HP:0032110"]
["Abnormal Vistech contrast sensitivity test","HP:0032111"]
["Abnormal Pelli Robson contrast sensitivity chart test","HP:0032112"]
["Semidominant mode of inheritance","HP:0032113"]
["Saccadic intrusion","HP:0032114"]
["Macrosquare-wave jerks","HP:0032116"]
["obsolete Macrosaccadic oscillation","HP:0032117"]
["Retinitis","HP:0032118"]
["Narrow angle glaucoma","HP:0032119"]
["Abnormal peripheral nervous system physiology","HP:0032120"]
["Froment sign","HP:0032121"]
["Very low visual acuity","HP:0032122"]
["Ultra-low vision","HP:0032123"]
["Abnormal proportion of unswitched memory B cells","HP:0032124"]
["Increased proportion of unswitched memory B cells","HP:0032125"]
["Decreased proportion of unswitched memory B cells","HP:0032126"]
["Abnormal plasmablast proportion","HP:0032127"]
["Increased proportion of plasmablasts","HP:0032128"]
["Decreased proportion of plasmablasts","HP:0032129"]
["Mycobacterium abscessus abscessus infection","HP:0032130"]
["Cervical dysplasia","HP:0032131"]
["Decreased circulating total IgG","HP:0032132"]
["Transient decreased circulating total IgG","HP:0032133"]
["Chronic decreased circulating total IgG","HP:0032134"]
["Decreased circulating IgG subclass level","HP:0032135"]
["Decreased circulating IgG1 level","HP:0032136"]
["Decreased circulating IgG3 level","HP:0032137"]
["Decreased circulating IgG4 level","HP:0032138"]
["Reduced isohemagglutinin level","HP:0032139"]
["Decreased specific antibody response to vaccination","HP:0032140"]
["Precordial pain","HP:0032141"]
["Fetor hepaticus","HP:0032142"]
["Burning mouth","HP:0032143"]
["Coffee ground vomitus","HP:0032144"]
["Sural nerve atrophy","HP:0032145"]
["HbC hemoglobin","HP:0032146"]
["Erythromelalgia","HP:0032147"]
["Episodic pain","HP:0032148"]
["Breakthrough pain","HP:0032149"]
["Paroxysmal rectal pain","HP:0032150"]
["Episodic eosinophilia","HP:0032151"]
["Keratosis pilaris","HP:0032152"]
["Joint subluxation","HP:0032153"]
["Aphthous ulcer","HP:0032154"]
["Abdominal cramps","HP:0032155"]
["Skin detachment","HP:0032156"]
["Recurrent genital herpes","HP:0032157"]
["Unusual infection by anatomical site","HP:0032158"]
["Fungal meningitis","HP:0032159"]
["Cryptococcal meningitis","HP:0032160"]
["Coccidioidal meningitis","HP:0032161"]
["Unusual skin infection","HP:0032162"]
["Molluscum contagiosum","HP:0032163"]
["Increased blood folate concentration","HP:0032164"]
["Placental mesenchymal dysplasia","HP:0032165"]
["Unusual gastrointestinal infection","HP:0032166"]
["Clostridium difficile enteritis","HP:0032167"]
["Clostridium difficile colitis","HP:0032168"]
["Severe infection","HP:0032169"]
["Severe varicella zoster infection","HP:0032170"]
["Bladder pain","HP:0032171"]
["Air crescent sign","HP:0032172"]
["Continuous diaphragm sign","HP:0032173"]
["Tree-in-bud pattern","HP:0032174"]
["Signet ring sign","HP:0032175"]
["Apical pulmonary opacity","HP:0032176"]
["Parenchymal consolidation","HP:0032177"]
["Flaky paint dermatosis","HP:0032178"]
["Abnormal circulating globulin level","HP:0032179"]
["Abnormal circulating metabolite concentration","HP:0032180"]
["Anomalous hepatic venous drainage into the left atrium","HP:0032181"]
["Abnormal proportion of memory T cells","HP:0032182"]
["Decreased proportion of memory T cells","HP:0032183"]
["Increased proportion of memory T cells","HP:0032184"]
["Disseminated molluscum contagiosum","HP:0032185"]
["Anal neoplasm","HP:0032186"]
["Anal intraepithelial neoplasia","HP:0032187"]
["Cellular hypersensitivity to mitomycin C","HP:0032188"]
["Cellular hypersensitivity to diepoxybutane","HP:0032189"]
["Abnormal meniscus morphology","HP:0032190"]
["Torn meniscus","HP:0032191"]
["Hydatidiform mole","HP:0032192"]
["Decreased low-density lipoprotein particle size","HP:0032193"]
["Abnormal S wave","HP:0032195"]
["Prominent S wave in lead I","HP:0032196"]
["Deep S wave in lead V5","HP:0032197"]
["Decreased prothrombin time","HP:0032198"]
["Abnormal prothrombin time","HP:0032199"]
["Perivascular fibrosis","HP:0032200"]
["Rotator cuff tear","HP:0032201"]
["Vulvar intraepithelial neoplasia","HP:0032202"]
["Lymphoid nodular hyperplasia","HP:0032203"]
["Chronic active Epstein-Barr virus infection","HP:0032204"]
["Increased circulating galectin-3 level","HP:0032205"]
["Abnormal cerebrospinal fluid metabolite concentration","HP:0032207"]
["Increased urinary type 1 collagen N-terminal telopeptide level","HP:0032208"]
["Abnormal circulating free T3 level","HP:0032209"]
["Decreased circulating free T3","HP:0032210"]
["Increased urinary epithelial cell count","HP:0032211"]
["Increased urinary squamous epithelial cell count","HP:0032212"]
["Increased urinary renal tubular epithelial cell count","HP:0032213"]
["Increased urinary transitional epithelial cell count","HP:0032214"]
["Disseminated cutaneous warts","HP:0032215"]
["Lymphocytic infiltration of the colorectal mucosa","HP:0032216"]
["Indurated nodule","HP:0032217"]
["Decreased proportion of CD4-positive T cells","HP:0032218"]
["Increased proportion of CD4-positive T cells","HP:0032219"]
["Interface hepatitis","HP:0032220"]
["Periportal emperipolesis","HP:0032221"]
["Serrated intestinal polyps","HP:0032222"]
["Blood group","HP:0032223"]
["ABO blood group","HP:0032224"]
["Perifollicular fibroma","HP:0032225"]
["Abnormal sebaceous gland morphology","HP:0032226"]
["Sebaceous hyperplasia","HP:0032227"]
["Trichodiscoma","HP:0032228"]
["Perinuclear antineutrophil antibody positivity","HP:0032229"]
["Cytoplasmic antineutrophil antibody positivity","HP:0032230"]
["Hypochromia","HP:0032231"]
["Increased circulating creatine kinase MB isoform","HP:0032232"]
["Increased circulating creatine kinase BB isoform","HP:0032233"]
["Increased circulating creatine kinase MM isoform","HP:0032234"]
["Anti-La/SS-B antibody positivity","HP:0032235"]
["Increased circulating immature neutrophil count","HP:0032236"]
["Increased circulating myelocyte count","HP:0032237"]
["Increased circulating metamyelocyte count","HP:0032238"]
["Increased circulating band cell count","HP:0032239"]
["Elevated circulating E selectin level","HP:0032240"]
["Cervical neoplasm","HP:0032241"]
["Cervical intraepithelial neoplasia","HP:0032242"]
["Abnormal tissue metabolite concentration","HP:0032243"]
["Decreased serum thromboxane B2","HP:0032244"]
["Abnormal metabolism","HP:0032245"]
["Persistent CMV viremia","HP:0032247"]
["Persistent viremia","HP:0032248"]
["Coccidioidomycosis","HP:0032249"]
["Acinetobacter infection","HP:0032250"]
["Abnormal immune system morphology","HP:0032251"]
["Granuloma","HP:0032252"]
["Eosinophilic granuloma","HP:0032253"]
["Increased circulating copper concentration","HP:0032254"]
["Opportunistic fungal infection","HP:0032255"]
["Histoplasmosis","HP:0032256"]
["Disseminated histoplasmosis","HP:0032257"]
["Pulmonary histoplasmosis","HP:0032258"]
["Chronic tinea infection","HP:0032259"]
["Opportunistic bacterial infection","HP:0032260"]
["Nontuberculous mycobacterial pulmonary infection","HP:0032261"]
["Pulmonary tuberculosis","HP:0032262"]
["Increased blood pressure","HP:0032263"]
["Anti-NMDA receptor antibody positivity","HP:0032264"]
["CSF autoimmune antibody positivity","HP:0032265"]
["CSF anti-NMDA receptor antibody positivity","HP:0032266"]
["Empty delta sign","HP:0032267"]
["Dural tail sign","HP:0032268"]
["Lemon sign","HP:0032269"]
["Optic nerve tram-track sign","HP:0032270"]
["Extrapulmonary tuberculosis","HP:0032271"]
["Elevated urinary N-acetylaspartic acid level","HP:0032272"]
["Increased circulating N-Acetylaspartic acid concentration","HP:0032273"]
["Increased CSF N-Acetylaspartic acid concentration","HP:0032274"]
["Recurrent shingles","HP:0032275"]
["Prominent subcalcaneal fat pad","HP:0032276"]
["Lozenge-shaped umbilicus","HP:0032277"]
["2-hydroxyglutarate aciduria","HP:0032278"]
["Abnormal base excess","HP:0032281"]
["Contact dermatitis","HP:0032282"]
["Disseminated nontuberculous mycobacterial infection","HP:0032283"]
["Ultra-low vision with retained motion projection","HP:0032284"]
["Ultra-low vision with retained light projection","HP:0032285"]
["Ultra-low vision with retained light perception","HP:0032286"]
["Ultra-low vision with no light perception","HP:0032287"]
["Polyclonal elevation of circulating IgG","HP:0032288"]
["Oligoclonal elevation of circulating IgG","HP:0032289"]
["Monoclonal elevation of IgG","HP:0032290"]
["Monoclonal elevation of intact IgG","HP:0032291"]
["Monoclonal elevation of IgG light chain","HP:0032292"]
["Monoclonal elevation of IgG heavy chain","HP:0032293"]
["Monoclonal elevation of IgG kappa chain","HP:0032294"]
["Monoclonal elevation of IgG lambda chain","HP:0032295"]
["Increased circulating IgG subclass","HP:0032296"]
["Increased circulating IgG3 level","HP:0032297"]
["Increased circulating IgG1 level","HP:0032298"]
["Increased circulating IgG2 level","HP:0032299"]
["Increased circulating IgG4 level","HP:0032300"]
["Genital warts","HP:0032301"]
["Kappa Bence Jones proteinuria","HP:0032302"]
["Lambda Bence Jones proteinuria","HP:0032303"]
["Abnormal mannose-binding protein level","HP:0032304"]
["Decreased mannose-binding protein level","HP:0032305"]
["Increased mannose-binding protein level","HP:0032306"]
["Increased circulating procalcitonin concentration","HP:0032308"]
["Abnormal granulocyte count","HP:0032309"]
["Granulocytosis","HP:0032310"]
["Increased circulating globulin level","HP:0032311"]
["Decreased circulating globulin level","HP:0032312"]
["Frontotemporal hypertrichosis","HP:0032313"]
["Abnormal areolar morphology","HP:0032314"]
["Areolar fullness","HP:0032315"]
["Family history","HP:0032316"]
["Family history of cancer","HP:0032317"]
["Family history of heart disease","HP:0032318"]
["Health status","HP:0032319"]
["Affected","HP:0032320"]
["Unaffected","HP:0032321"]
["Healthy","HP:0032322"]
["Periodic fever","HP:0032323"]
["Non-periodic recurrent fever","HP:0032324"]
["Lacunar stroke","HP:0032325"]
["Methicillin-resistant Staphylococcus aureus infection","HP:0032326"]
["Interhemispheric cyst","HP:0032327"]
["Temporomandibular joint adhesion","HP:0032328"]
["Increased urinary 11-deoxycortisol level","HP:0032329"]
["Increased urinary 11-deoxycorticosterone level","HP:0032330"]
["Increased urinary 11-deoxytetrahydrocorticosterone level","HP:0032331"]
["Oligoclonal elevation of circulating IgM","HP:0032332"]
["Polyclonal elevation of circulating IgA","HP:0032333"]
["Oligoclonal elevation of circulating IgA","HP:0032334"]
["Monoclonal elevation of circulating IgA","HP:0032335"]
["Increased circulating specific IgE antibody","HP:0032336"]
["Monoclonal elevation of circulating IgE","HP:0032337"]
["Oligoclonal elevation of circulating IgE","HP:0032338"]
["Polyclonal elevation of circulating IgE","HP:0032339"]
["obsolete Abnormal spirometry test","HP:0032340"]
["Reduced forced vital capacity","HP:0032341"]
["Reduced forced expiratory volume in one second","HP:0032342"]
["Upslanting toenail","HP:0032344"]
["Elevated cancer Ag 19-9 level","HP:0032345"]
["Cutaneous lichen amyloidosis","HP:0032346"]
["Cutaneous macular amyloidosis","HP:0032347"]
["Cutaneous nodular amyloidosis","HP:0032348"]
["Serinuria","HP:0032349"]
["Sulfocysteinuria","HP:0032350"]
["Phenylalaninuria","HP:0032351"]
["Methioninuria","HP:0032352"]
["Leucinuria","HP:0032353"]
["Decreased peak expiratory flow","HP:0032355"]
["Decreased pre-bronchodilator forced vital capacity","HP:0032356"]
["Decreased post-bronchodilator forced vital capacity","HP:0032357"]
["Decreased post-bronchodilator forced expiratory volume in one second","HP:0032358"]
["Decreased forced expiratory flow 25-75%","HP:0032359"]
["Decreased pre-bronchodilator forced expiratory flow 25-75%","HP:0032360"]
["Decreased post-bronchodilator forced expiratory flow 25-75%","HP:0032361"]
["Increased circulating corticosterone level","HP:0032362"]
["Decreased circulating corticosterone level","HP:0032363"]
["obsolete Abnormal CSF amino acid level","HP:0032364"]
["Exacerbated by aspirin ingestion","HP:0032365"]
["Positive direct antiglobulin test","HP:0032366"]
["Abnormal growth hormone level","HP:0032367"]
["Acidemia","HP:0032368"]
["Alkalemia","HP:0032369"]
["Blood group A","HP:0032370"]
["Isoleucinuria","HP:0032371"]
["Increased peripheral blast count","HP:0032372"]
["Duffy blood group","HP:0032373"]
["Duffy Fya positivity","HP:0032374"]
["Duffy Fyb positivity","HP:0032375"]
["Anti-beta 2 glycoprotein I antibody positivity","HP:0032376"]
["Increased urinary orosomucoid","HP:0032377"]
["Immediate-type hypersensitivity drug reaction","HP:0032378"]
["Polymorphous light eruption","HP:0032379"]
["Hydroa vacciniforme","HP:0032381"]
["Uniparental disomy","HP:0032382"]
["Uniparental heterodisomy","HP:0032383"]
["Uniparental isodisomy","HP:0032384"]
["Abnormal circulating transferrin concentration","HP:0032385"]
["Elevated circulating transferrin concentration","HP:0032386"]
["Reduced circulating transferrin concentration","HP:0032387"]
["Periventricular nodular heterotopia","HP:0032388"]
["Periventricular laminar heterotopia","HP:0032389"]
["Periventricular ribbonlike heterotopia","HP:0032390"]
["Subcortical heterotopia","HP:0032391"]
["Nodular subcortical heterotopia in peritrigonal regions","HP:0032392"]
["Diffuse ribbon-like subcortical heterotopia","HP:0032393"]
["Mesial parasagittal subcortical heterotopia","HP:0032394"]
["Curvilinear subcortical heterotopia","HP:0032395"]
["Transmantle columnar heterotopia","HP:0032396"]
["Citrullinuria","HP:0032397"]
["Dysgyria","HP:0032398"]
["Dysgyria with normal cortical thickness","HP:0032399"]
["Dysgyria with thickened cortex","HP:0032400"]
["Aspartic aciduria","HP:0032401"]
["Asparaginuria","HP:0032403"]
["Testicular mass","HP:0032404"]
["Increased urinary phosphoserine level","HP:0032405"]
["Unilateral perisylvian polymicrogyria","HP:0032406"]
["Bilateral perisylvian polymicrogyria","HP:0032407"]
["Breast mass","HP:0032408"]
["Subcortical band heterotopia","HP:0032409"]
["Bilateral generalized polymicrogyria","HP:0032410"]
["Posterior predominant subcortical band heterotopia","HP:0032411"]
["Anterior predominant subcortical band heterotopia","HP:0032412"]
["Diffuse subcortical band heterotopia","HP:0032413"]
["Hydroxylysinuria","HP:0032414"]
["Parasagittal parieto-occipital polymicrogyria","HP:0032415"]
["Retinal microaneurysm","HP:0032416"]
["Periglomerular fibrosis","HP:0032417"]
["Abnormal HDL subfraction concentration","HP:0032418"]
["Abnormal HDL2a concentration","HP:0032419"]
["Increased HDL2a concentration","HP:0032420"]
["Decreased HDL2a concentration","HP:0032421"]
["Abnormal HDL2b concentration","HP:0032422"]
["Decreased HDL2b concentration","HP:0032423"]
["Increased HDL2b concentration","HP:0032424"]
["Abnormal HDL3a concentration","HP:0032425"]
["Abnormal HDL3b concentration","HP:0032426"]
["Abnormal HDL3c concentration","HP:0032427"]
["Increased HDL3a concentration","HP:0032428"]
["Decreased HDL3a concentration","HP:0032429"]
["Increased HDL3b concentration","HP:0032430"]
["Decreased HDL3b concentration","HP:0032431"]
["Increased HDL3c concentration","HP:0032432"]
["Decreased HDL3c concentration","HP:0032433"]
["Delayed umbilical cord separation","HP:0032434"]
["Neonatal omphalitis","HP:0032435"]
["Abnormal C-reactive protein level","HP:0032436"]
["Reduced C-reactive protein level","HP:0032437"]
["Platelet anisocytosis","HP:0032438"]
["Airborn particle hypersensitivity","HP:0032439"]
["Blood group B","HP:0032440"]
["Blood group AB","HP:0032441"]
["Blood group O","HP:0032442"]
["Past medical history","HP:0032443"]
["Status post organ transplantation","HP:0032444"]
["Pulmonary cyst","HP:0032445"]
["Pulmonary bulla","HP:0032446"]
["Pulmonary bleb","HP:0032447"]
["Achlorhydria","HP:0032448"]
["Abnormal dermoepidermal hemidesmosome morphology","HP:0032449"]
["Positive blood arsenic test","HP:0032450"]
["Oral melanotic macule","HP:0032451"]
["Oral melanoacanthoma","HP:0032452"]
["Abnormal lip pigmentation","HP:0032453"]
["Labial melanotic macule","HP:0032454"]
["Reduced granulocyte CD18 level","HP:0032455"]
["Unlayered lissencephaly","HP:0032456"]
["2-3-layered lissencephaly","HP:0032457"]
["Narrowing of medullary canal","HP:0032458"]
["Abnormal phosphoribosylpyrophosphate synthetase level","HP:0032459"]
["Decreased phosphoribosylpyrophosphate synthetase level","HP:0032460"]
["obsolete Tiger-tail banding","HP:0032461"]
["Increased circulating palmitate level","HP:0032462"]
["Reduced circulating fibronectin level","HP:0032463"]
["Ureteral hypoplasia","HP:0032464"]
["Bladder trabeculation","HP:0032465"]
["Aplasia of the olfactory bulb","HP:0032466"]
["Past obstetric history","HP:0032467"]
["History of stillbirth","HP:0032468"]
["Anti-asialoglycoprotein receptor antibody positivity","HP:0032469"]
["Monilethrix","HP:0032470"]
["Focal polymicrogyria","HP:0032471"]
["Abnormal urine urobilinogen level","HP:0032472"]
["Decreased urine urobilinogen","HP:0032473"]
["6-layered lissencephaly","HP:0032475"]
["Abnormal circulating vitamin B6 level","HP:0032476"]
["Elevated circulating vitamin B6 level","HP:0032477"]
["Lateral spinal meningocele","HP:0032478"]
["Preimplantation lethality","HP:0032479"]
["Beta-aminoisobutyric aciduria","HP:0032480"]
["Abnormal pituitary glycoprotein hormone alpha subunit level","HP:0032481"]
["Decreased pituitary glycoprotein hormone alpha subunit level","HP:0032482"]
["Abnormal fecal test result","HP:0032483"]
["Elevated fecal sodium","HP:0032484"]
["Abnormal fecal osmolality","HP:0032485"]
["Elevated fecal osmolality","HP:0032486"]
["Reduced fecal osmolality","HP:0032487"]
["Abnormal fecal pH","HP:0032488"]
["Elevated fecal pH","HP:0032489"]
["Decreased fecal pH","HP:0032490"]
["Increased circulating argininosuccinic acid","HP:0032491"]
["Anti-myelin oligodendrocyte glycoprotein antibody positivity","HP:0032492"]
["Increased circulating trypsinogen","HP:0032493"]
["Abnormal terminal:vellus ratio","HP:0032495"]
["Elevated terminal:vellus ratio","HP:0032496"]
["Reduced terminal:vellus ratio","HP:0032497"]
["Giant neutrophil granules","HP:0032499"]
["Exacerbated by tobacco use","HP:0032500"]
["Exacerbated by contraceptive medication","HP:0032501"]
["Exacerbated by barbiturate medication","HP:0032502"]
["Ameliorated by ethanol ingestion","HP:0032503"]
["Lhermitte's sign","HP:0032504"]
["Hydrophobia","HP:0032505"]
["Alien limb phenomenon","HP:0032506"]
["Labiomental fasciculations","HP:0032507"]
["Polyembolokoilamania","HP:0032508"]
["Onychotillomania","HP:0032509"]
["Tendon pain","HP:0032510"]
["Superiorly positioned umbilicus","HP:0032511"]
["Four-vessel umbilical cord","HP:0032513"]
["Duplicated lacrimal punctum","HP:0032514"]
["Deep dermatophytosis","HP:0032515"]
["Invasive dermatophyte infection","HP:0032516"]
["Majocchi's granuloma","HP:0032517"]
["Disseminated dermatophytosis","HP:0032518"]
["Increased Burr cell count","HP:0032519"]
["Masseter muscular weakness","HP:0032520"]
["Self hugging","HP:0032521"]
["Ameliorated by immunosuppresion","HP:0032522"]
["Tendon thickening","HP:0032523"]
["Long thumb","HP:0032524"]
["Aggravated by acetylcholinesterase inhibitor","HP:0032525"]
["Ameliorated by acetylcholinesterase inhibitor","HP:0032526"]
["Inferiorly positioned umbilicus","HP:0032527"]
["Elevated urinary 4-hydroxybutyric acid","HP:0032528"]
["Elevated circulating gamma-aminobutyric acid concentration","HP:0032529"]
["Decreased succinic semialdehyde dehydrogenase level","HP:0032530"]
["Elevated CSF gamma-aminobutyric acid concentration","HP:0032531"]
["Elevated CSF 4-hydroxybutyric acid concentration","HP:0032532"]
["Elevated circulating acetone concentration","HP:0032533"]
["Exacerbated by methylxanthine ingestion","HP:0032534"]
["Cervical (neck)","HP:0032535"]
["Increased number of lymph nodes","HP:0032536"]
["Delayed fracture healing","HP:0032537"]
["Pretibial dimple","HP:0032538"]
["Joint extensor surface localization","HP:0032539"]
["Joint flexor surface localization","HP:0032540"]
["Knuckle pad","HP:0032541"]
["Exacerbated by pregnancy","HP:0032542"]
["Lithoptysis","HP:0032543"]
["Predominant small joint localization","HP:0032544"]
["Abdominal rigidity","HP:0032545"]
["Abdominal guarding","HP:0032546"]
["Low intraocular pressure","HP:0032547"]
["Increased placental thickness","HP:0032548"]
["Persistent asymmetrical tonic neck reflex","HP:0032549"]
["Howell-Jolly bodies","HP:0032550"]
["Hemorrhoids","HP:0032551"]
["Abnormal pulse","HP:0032552"]
["Weak pulse","HP:0032553"]
["Absent pulse","HP:0032554"]
["Bounding pulse","HP:0032555"]
["Circumoral cyanosis","HP:0032556"]
["History of bone marrow transplant","HP:0032557"]
["Absent sperm flagella","HP:0032558"]
["Short sperm flagella","HP:0032559"]
["Coiled sperm flagella","HP:0032560"]
["Microcephalic sperm head","HP:0032561"]
["Tapered sperm head","HP:0032562"]
["Dacryocytosis","HP:0032563"]
["Ileitis","HP:0032564"]
["Vaginal mucosal ulceration","HP:0032565"]
["Oval macrocytosis","HP:0032566"]
["Lipiduria","HP:0032567"]
["Urinary mulberry cells","HP:0032568"]
["Temporal bossing","HP:0032569"]
["Pontine ischemic lacunes","HP:0032570"]
["Increased oocyte death","HP:0032571"]
["Abnormal urinary nucleobase concentration","HP:0032572"]
["Elevated urinary cytidine","HP:0032573"]
["Elevated uridine in urine","HP:0032574"]
["Decreased circulating 12-HETE","HP:0032575"]
["Intracellular accumulation of Dol-PP-GlcNAc2Man5","HP:0032576"]
["Clonal T cell receptor rearrangement","HP:0032577"]
["Third ventricle colloid cyst","HP:0032578"]
["Vascular hamartoma","HP:0032579"]
["Abnormal bulbus cordis morphology","HP:0032580"]
["Abnormal renal insterstitial morphology","HP:0032581"]
["Renal interstitial foam cells","HP:0032582"]
["Renal glomerular foam cells","HP:0032583"]
["Renal interstitial neutrophil infiltration","HP:0032584"]
["Renal interstitial eosinophil infiltration","HP:0032585"]
["Renal interstitial plasma cell infiltration","HP:0032586"]
["Renal interstitial calcium oxalate","HP:0032587"]
["Hand apraxia","HP:0032588"]
["Renal lymphocytic tubulitis","HP:0032589"]
["Renal neutrophilic tubulitis","HP:0032590"]
["Renal interstitial hemosiderin","HP:0032591"]
["Aplasia of the right hemidiaphragm","HP:0032592"]
["Myoglobin casts","HP:0032593"]
["Renal tubular basement membrane denudation","HP:0032594"]
["Renal tubular epithelial cell detachment","HP:0032595"]
["Renal tubular epithelial cell cytoplasmic vacuolization","HP:0032596"]
["Renal tubular epithelial cell sloughing","HP:0032597"]
["Blebbing of apical cytoplasm of renal tubular epithelial cells","HP:0032598"]
["Abnormal renal tubular epithelial morphology","HP:0032599"]
["Renal tubular epithelial cell hyaline droplets","HP:0032600"]
["Multinucleation of renal tubular epithelial cells","HP:0032601"]
["Prominent nucleoli of renal tubular epithelial cells","HP:0032602"]
["Renal tubular epithelial cell simplification","HP:0032603"]
["Renal tubular epithelial cell mitosis","HP:0032604"]
["High renal tubular epithelial cell N/C ratio","HP:0032605"]
["Renal tubular epithelial lipofuscin","HP:0032606"]
["Renal tubular epithelial cell swelling","HP:0032607"]
["Thyroidization-type tubular atrophy","HP:0032608"]
["Endocrine-type tubular atrophy","HP:0032609"]
["Tubulointerstitial mycobacterial infiltration","HP:0032610"]
["Renal tubular epithelial cell hemosiderin","HP:0032611"]
["Triphalangeal hallux","HP:0032612"]
["Renal interstitial amyloid deposits","HP:0032613"]
["Renal glomerular amyloid deposition","HP:0032614"]
["Abnormal diffusion weighted cerebral MRI morphology","HP:0032615"]
["Renal interstitial immunoglobulin deposits","HP:0032616"]
["Renal interstitial hemorrhage","HP:0032617"]
["Renal necrosis","HP:0032618"]
["Perinephric abscess","HP:0032619"]
["Intrarenal abscess","HP:0032620"]
["Hyperchromasia of renal tubular epithelial cells","HP:0032621"]
["Tubular luminal dilatation","HP:0032622"]
["Renal intratubular casts","HP:0032623"]
["Intratubular bilirubin casts","HP:0032624"]
["Intratubular erythrocyte cast","HP:0032625"]
["Intratubular vancomycin casts","HP:0032626"]
["Intratubular leukocyte casts","HP:0032627"]
["Renal intratubular crystals","HP:0032628"]
["Intratubular dihydroxyadenuria crystals","HP:0032629"]
["Intratubular light-chain casts","HP:0032630"]
["Intratubular hemoglobin casts","HP:0032631"]
["Renal papillary necrosis","HP:0032632"]
["Intratubular hyaline casts","HP:0032633"]
["Intratubular myoglobin cast","HP:0032634"]
["Tubulointerstitial microganismal infiltration","HP:0032635"]
["Tubulointerstitial viral infiltration","HP:0032636"]
["Renal interstitial edema","HP:0032637"]
["Elevated urine mevalonic acid","HP:0032638"]
["Elevated leukocyte cystine","HP:0032639"]
["Elevated circulating CCL18 level","HP:0032640"]
["Renal interstitial granulomas","HP:0032641"]
["Renal interstitial necrotizing granulomas","HP:0032642"]
["Renal interstitial non-necrotizing granulomas","HP:0032643"]
["Renal interstitial deposits","HP:0032644"]
["Renal interstitial mononuclear cell infiltration","HP:0032645"]
["Renal interstitial xanthogranulomatous inflammation","HP:0032646"]
["Renal tubular epithelial cell apoptosis","HP:0032647"]
["Tubularization of Bowman capsule","HP:0032648"]
["Skewfoot","HP:0032649"]
["Elevated CSF glial fibrillary acidic protein level","HP:0032650"]
["Elevated CSF chitinase-3-like protein 1 level","HP:0032651"]
["Elevated CSF chitotriosidase 1 level","HP:0032652"]
["Elevated lactate:pyruvate ratio","HP:0032653"]
["Impaired flow-mediated arterial dilatation","HP:0032654"]
["Decreased adipose tissue tocopherol level","HP:0032655"]
["Febrile status epilepticus","HP:0032656"]
["Elevated circulating lyso-globotriaosylsphingosine concentration","HP:0032657"]
["Status epilepticus with prominent motor symptoms","HP:0032658"]
["Non-convulsive status epilepticus with coma","HP:0032659"]
["Convulsive status epilepticus","HP:0032660"]
["Generalized convulsive status epilepticus","HP:0032661"]
["Focal-onset seizure evolving into bilateral convulsive status epilepticus","HP:0032662"]
["Focal motor status epilepticus","HP:0032663"]
["Adversive status epilepticus","HP:0032664"]
["Repeated focal motor seizures","HP:0032665"]
["Hyperkinetic status epilepticus","HP:0032666"]
["Myoclonic status epilepticus","HP:0032667"]
["Myoclonic status epilepticus without coma","HP:0032668"]
["Myoclonic status epilepticus with coma","HP:0032669"]
["Tonic status epilepticus","HP:0032670"]
["Non-convulsive status epilepticus without coma","HP:0032671"]
["Autonomic status epilepticus","HP:0032672"]
["Focal non-convulsive status epilepticus without coma","HP:0032673"]
["Cutaneous wound","HP:0032674"]
["Acute cutaneous wound","HP:0032675"]
["Chronic cutaneous wound","HP:0032676"]
["Generalized-onset motor seizure","HP:0032677"]
["Eyelid myoclonia seizure","HP:0032678"]
["Focal non-motor seizure","HP:0032679"]
["Focal cognitive seizure","HP:0032680"]
["Focal aware cognitive seizure","HP:0032681"]
["Focal aware non-motor seizure","HP:0032682"]
["obsolete Focal aware cognitive seizure with impaired attention","HP:0032683"]
["Focal aware cognitive seizure with auditory agnosia","HP:0032684"]
["Focal cognitive seizure with auditory agnosia","HP:0032685"]
["Focal aware cognitive seizure with memory impairment","HP:0032686"]
["Focal cognitive seizure with memory impairment","HP:0032687"]
["Focal aware cognitive seizure with dissociation","HP:0032688"]
["Focal cognitive seizure with dissociation","HP:0032689"]
["Focal aware cognitive seizure with dyscalculia/acalculia","HP:0032690"]
["Focal cognitive seizure with dyscalculia/acalculia","HP:0032691"]
["Focal cognitive seizure with forced thinking","HP:0032692"]
["Focal cognitive seizure with neglect","HP:0032693"]
["Focal cognitive seizure with dyslexia/alexia","HP:0032694"]
["obsolete Illusory auras","HP:0032695"]
["Focal cognitive seizure with receptive dysphasia/aphasia","HP:0032696"]
["obsolete Focal cognitive seizure with deja vu/jamais vu","HP:0032697"]
["Focal cognitive seizure with conduction dysphasia/aphasia","HP:0032698"]
["Focal cognitive seizure with dysgraphia/agraphia","HP:0032699"]
["Focal cognitive seizure with left-right confusion","HP:0032700"]
["Focal cognitive seizure with anomia","HP:0032701"]
["Focal cognitive seizure with expressive dysphasia/aphasia","HP:0032702"]
["obsolete Hallucinatory aura","HP:0032703"]
["Focal aware cognitive seizure with illusion","HP:0032704"]
["Focal aware cognitive seizure with forced thinking","HP:0032705"]
["Focal aware cognitive seizure with left-right confusion","HP:0032706"]
["Focal aware cognitive seizure with dyslexia/alexia","HP:0032707"]
["Focal aware cognitive seizure with anomia","HP:0032708"]
["Focal aware cognitive seizure with dysgraphia/agraphia","HP:0032709"]
["Focal aware cognitive seizure with receptive dysphasia/aphasia","HP:0032710"]
["Focal aware clonic seizure","HP:0032711"]
["Focal impaired awareness motor seizure","HP:0032712"]
["Focal impaired awareness motor seizure with version","HP:0032713"]
["Focal impaired awareness bilateral motor seizure","HP:0032714"]
["Focal bilateral motor seizure","HP:0032715"]
["Focal impaired awareness non-motor seizure","HP:0032716"]
["Focal impaired awareness motor seizure with dystonia","HP:0032717"]
["Focal motor seizure with dystonia","HP:0032718"]
["Focal impaired awareness motor seizure with dysarthria/anarthria","HP:0032719"]
["Focal motor seizure with dysarthria/anarthria","HP:0032720"]
["Focal motor seizure with paresis/paralysis","HP:0032721"]
["Focal aware tonic seizure","HP:0032722"]
["Focal aware motor seizure with dystonia","HP:0032723"]
["Focal impaired awareness tonic seizure","HP:0032724"]
["Focal impaired awareness clonic seizure","HP:0032725"]
["Focal impaired awareness hyperkinetic seizure","HP:0032726"]
["Focal emotional seizure with agitation","HP:0032727"]
["Focal impaired awareness atonic seizure","HP:0032728"]
["Focal emotional seizure with pleasure","HP:0032729"]
["Focal impaired awareness myoclonic seizure","HP:0032730"]
["Focal aware hyperkinetic seizure","HP:0032731"]
["Focal aware motor seizure with paresis/paralysis","HP:0032732"]
["Focal aware motor seizure with dysarthria/anarthria","HP:0032733"]
["Focal aware emotional seizure","HP:0032734"]
["Focal aware emotional seizure with anger","HP:0032735"]
["Focal emotional seizure with anger","HP:0032736"]
["Focal emotional seizure with paranoia","HP:0032737"]
["Focal aware emotional seizure with fear/anxiety/panic","HP:0032738"]
["Focal emotional seizure with fear/anxiety/panic","HP:0032739"]
["Focal aware autonomic seizure","HP:0032740"]
["Focal aware emotional seizure with paranoia","HP:0032741"]
["Focal aware emotional seizure with pleasure","HP:0032742"]
["Focal aware emotional seizure with crying","HP:0032743"]
["Focal aware emotional seizure with agitation","HP:0032744"]
["Focal aware emotional seizure with laughing","HP:0032745"]
["Focal impaired awareness emotional seizure","HP:0032746"]
["Focal impaired awareness emotional seizure with pleasure","HP:0032747"]
["Focal impaired awareness emotional seizure with anger","HP:0032748"]
["Focal impaired awareness emotional seizure with paranoia","HP:0032749"]
["Focal impaired awareness emotional seizure with laughing","HP:0032750"]
["Focal impaired awareness emotional seizure with crying","HP:0032751"]
["Focal impaired awareness emotional seizure with fear/anxiety/panic","HP:0032752"]
["Focal impaired awareness emotional seizure with agitation","HP:0032753"]
["Focal aware sensory seizure","HP:0032754"]
["Focal impaired awareness autonomic seizure","HP:0032755"]
["Focal impaired awareness cognitive seizure","HP:0032756"]
["Focal aware hemiclonic seizure","HP:0032757"]
["Focal aware myoclonic seizure","HP:0032758"]
["Focal sensory seizure with vestibular features","HP:0032759"]
["Focal sensory seizure with hot-cold sensations","HP:0032760"]
["Focal aware autonomic seizure with pallor/flushing","HP:0032761"]
["Focal autonomic seizure with pallor/flushing","HP:0032762"]
["Focal autonomic seizure with pupillary dilation/constriction","HP:0032763"]
["Focal autonomic seizure with erection","HP:0032764"]
["Focal autonomic seizure with urge to urinate/defecate","HP:0032765"]
["Focal autonomic seizure with hypoventilation/hyperventilation/altered respiration","HP:0032766"]
["Focal autonomic seizure with piloerection","HP:0032767"]
["Focal aware autonomic seizure with pupillary dilation/constriction","HP:0032768"]
["Focal aware autonomic seizure with hypoventilation/hyperventilation/altered respiration","HP:0032769"]
["Focal aware autonomic seizure with erection","HP:0032770"]
["Focal autonomic seizure with lacrimation","HP:0032771"]
["Focal impaired awareness autonomic seizure with piloerection","HP:0032772"]
["Focal autonomic seizure with palpitations/tachycardia/bradycardia/asystole","HP:0032773"]
["Focal impaired awareness autonomic seizure with urge to urinate/defecate","HP:0032774"]
["Focal impaired awareness autonomic seizure with hypoventilation/hyperventilation/altered respiration","HP:0032775"]
["Focal aware autonomic seizure with lacrimation","HP:0032776"]
["Focal impaired awareness autonomic seizure with pallor/flushing","HP:0032777"]
["Focal impaired awareness autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal phenomena","HP:0032778"]
["Focal impaired awareness autonomic seizure with pupillary dilation/constriction","HP:0032779"]
["Focal impaired awareness autonomic seizure with erection","HP:0032780"]
["Focal aware autonomic seizure with urge to urinate/defecate","HP:0032781"]
["Focal impaired awareness autonomic seizure with lacrimation","HP:0032782"]
["Focal aware autonomic seizure with piloerection","HP:0032783"]
["Focal aware autonomic seizure with palpitations/tachycardia/bradycardia/asystole","HP:0032784"]
["Focal aware autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal phenomena","HP:0032785"]
["Migrating focal seizure","HP:0032786"]
["Focal impaired awareness sensory seizure","HP:0032787"]
["Focal impaired awareness autonomic seizure with palpitations/tachycardia/bradycardia/asystole","HP:0032788"]
["Focal aware behavior arrest seizure","HP:0032789"]
["Focal impaired awareness behavior arrest seizure","HP:0032790"]
["Focal impaired awareness cognitive seizure with anomia","HP:0032791"]
["Tonic seizure","HP:0032792"]
["Focal impaired awareness cognitive seizure with receptive dysphasia/aphasia","HP:0032793"]
["Myoclonic seizure","HP:0032794"]
["Generalized myoclonic-tonic-clonic seizure","HP:0032795"]
["Focal impaired awareness cognitive seizure with left-right confusion","HP:0032796"]
["Focal aware sensory seizure with olfactory features","HP:0032797"]
["Focal impaired awareness cognitive seizure with neglect","HP:0032798"]
["Focal impaired awareness hemiclonic seizure","HP:0032799"]
["Focal aware sensory seizure with vestibular features","HP:0032800"]
["Focal impaired awareness cognitive seizure with memory impairment","HP:0032801"]
["Focal impaired awareness cognitive seizure with dyscalculia/acalculia","HP:0032802"]
["Focal impaired awareness cognitive seizure with dysgraphia/agraphia","HP:0032803"]
["Focal impaired awareness sensory seizure with olfactory features","HP:0032804"]
["Focal impaired awareness sensory seizure with vestibular features","HP:0032805"]
["Focal impaired awareness sensory seizure with visual features","HP:0032806"]
["Neonatal seizure","HP:0032807"]
["Neonatal seizure with electrographic correlate","HP:0032808"]
["Neonatal electro-clinical seizure","HP:0032809"]
["Focal sensory seizure with cephalic sensation","HP:0032810"]
["Neonatal electrographic only seizure","HP:0032811"]
["Neonatal electro-clinical non-motor seizure","HP:0032812"]
["Neonatal electro-clinical motor seizure","HP:0032813"]
["Neonatal electro-clinical clonic seizure","HP:0032814"]
["Neonatal electro-clinical myoclonic seizure","HP:0032815"]
["Neonatal multifocal myoclonic seizure","HP:0032816"]
["Neonatal focal myoclonic seizure","HP:0032817"]
["Neonatal focal clonic seizure","HP:0032818"]
["Neonatal bilateral clonic seizure","HP:0032819"]
["Neonatal multifocal clonic seizure","HP:0032820"]
["Neonatal electro-clinical tonic seizure","HP:0032821"]
["Neonatal electro-clinical autonomic seizure","HP:0032822"]
["Neonatal electro-clinical seizure with behavior arrest","HP:0032823"]
["Neonatal focal tonic seizure","HP:0032824"]
["Neonatal electro-clinical sequential seizure","HP:0032825"]
["Focal neonatal sequential seizure","HP:0032826"]
["Multifocal neonatal sequential seizure","HP:0032827"]
["Neonatal bilateral symmetric tonic seizure","HP:0032828"]
["Neonatal electro-clinical motor seizure with automatism","HP:0032829"]
["Neonatal seizure with bilateral asymmetric automatism","HP:0032830"]
["Neonatal bilateral asymmetric tonic seizure","HP:0032831"]
["Neonatal bilateral asymmetric myoclonic seizure","HP:0032832"]
["Neonatal epileptic spasm","HP:0032833"]
["Neonatal seizure with unilateral automatism","HP:0032834"]
["Neonatal seizure with bilateral symmetric automatism","HP:0032835"]
["Neonatal bilateral symmetric myoclonic seizure","HP:0032836"]
["Bilateral asymmetric neonatal sequential seizure","HP:0032837"]
["Neonatal unilateral epileptic spasm","HP:0032838"]
["Bilateral symmetric neonatal sequential seizure","HP:0032839"]
["Neonatal bilateral symmetric epileptic spasm","HP:0032840"]
["Neonatal bilateral asymmetric epileptic spasm","HP:0032841"]
["Generalized-onset epileptic spasm","HP:0032842"]
["Focal-onset epileptic spasm","HP:0032843"]
["Focal impaired awareness epileptic spasm","HP:0032844"]
["Focal aware epileptic spasm","HP:0032845"]
["Focal motor seizure with negative myoclonus","HP:0032846"]
["Focal impaired awareness hemifacial clonic seizure","HP:0032847"]
["Focal aware cognitive seizure with neglect","HP:0032848"]
["Aphasic status epilepticus","HP:0032849"]
["Focal aware cognitive seizure with expressive dysphasia/aphasia","HP:0032850"]
["Focal aware sensory seizure with visual features","HP:0032851"]
["Focal impaired awareness cognitive seizure with conduction dysphasia/aphasia","HP:0032852"]
["Focal impaired awareness sensory seizure with hot-cold sensations","HP:0032853"]
["Focal aware hemifacial clonic seizure","HP:0032854"]
["Photosensitive myoclonic-tonic-clonic seizure","HP:0032855"]
["Focal aware bilateral motor seizure","HP:0032856"]
["Focal aware motor seizure with negative myoclonus","HP:0032857"]
["Focal impaired awareness motor seizure with negative myoclonus","HP:0032858"]
["Focal impaired awareness motor seizure with paresis/paralysis","HP:0032859"]
["Generalized non-convulsive status epilepticus without coma","HP:0032860"]
["Focal non-convulsive status epilepticus with impairment of consciousness","HP:0032861"]
["Status epilepticus with ictal paresis","HP:0032862"]
["Typical absence status epilepticus","HP:0032863"]
["Focal aware sensory seizure with auditory features","HP:0032864"]
["Myoclonic absence status epilepticus","HP:0032865"]
["Oculoclonic status epilepticus","HP:0032866"]
["Refractory status epilepticus","HP:0032867"]
["Super-refractory status epilepticus","HP:0032868"]
["Focal non-convulsive status epilepticus without impairment of consciousness","HP:0032869"]
["Focal impaired awareness cognitive seizure with dyslexia/alexia","HP:0032870"]
["Focal aware cognitive seizure with hallucination","HP:0032871"]
["Focal impaired awareness cognitive seizure with illusion","HP:0032872"]
["Focal aware sensory seizure with cephalic sensation","HP:0032873"]
["Focal impaired awareness cognitive seizure with auditory agnosia","HP:0032874"]
["obsolete Focal impaired awareness cognitive seizure with impaired responsiveness","HP:0032875"]
["Focal aware cognitive seizure with conduction dysphasia/aphasia","HP:0032876"]
["Focal aware sensory seizure with hot-cold sensations","HP:0032877"]
["Focal impaired awareness sensory seizure with cephalic sensation","HP:0032878"]
["Focal impaired awareness seizure with dissociation at onset","HP:0032879"]
["Focal impaired awareness sensory seizure with auditory features","HP:0032880"]
["obsolete Focal aware cognitive seizure with impaired responsiveness","HP:0032881"]
["Focal impaired awareness cognitive seizure with deja vu/jamais vu","HP:0032882"]
["Focal aware cognitive seizure with deja vu/jamais vu","HP:0032883"]
["Focal aware sensory seizure with somatosensory features","HP:0032884"]
["Focal impaired awareness cognitive seizure with hallucination","HP:0032885"]
["Focal impaired awareness cognitive seizure with expressive dysphasia/aphasia","HP:0032886"]
["Generalized atonic seizure","HP:0032887"]
["Focal impaired awareness cognitive seizure with forced thinking","HP:0032888"]
["Focal aware sensory seizure with gustatory features","HP:0032889"]
["Focal impaired awareness sensory seizure with somatosensory features","HP:0032890"]
["Focal aware motor seizure with version","HP:0032891"]
["Infection-related seizure","HP:0032892"]
["Gastroenteritis-related afebrile seizure","HP:0032893"]
["Seizure precipitated by febrile infection","HP:0032894"]
["Febrile seizure outside the age of 3 months to 6 years","HP:0032895"]
["Music-induced seizure","HP:0032896"]
["Focal impaired awareness sensory seizure with gustatory features","HP:0032897"]
["Focal automatism seizure","HP:0032898"]
["Focal orofacial automatism seizure","HP:0032899"]
["Focal manual automatism seizure","HP:0032900"]
["Focal pedal automatism seizure","HP:0032901"]
["Focal perseverative automatism seizure","HP:0032902"]
["Focal vocal automatism seizure","HP:0032903"]
["Focal verbal automatism seizure","HP:0032904"]
["Focal sexual automatism seizure","HP:0032905"]
["Focal head nodding automatism seizure","HP:0032906"]
["Focal undressing automatism seizure","HP:0032907"]
["Focal aware undressing automatism seizure","HP:0032908"]
["Focal impaired awareness automatism seizure","HP:0032909"]
["Focal aware automatism seizure","HP:0032910"]
["Focal aware orofacial automatism seizure","HP:0032911"]
["Focal aware manual automatism seizure","HP:0032912"]
["Focal aware pedal automatism seizure","HP:0032913"]
["Focal aware perseverative automatism seizure","HP:0032914"]
["Focal aware vocal automatism seizure","HP:0032915"]
["Focal aware verbal automatism seizure","HP:0032916"]
["Focal aware sexual automatism seizure","HP:0032917"]
["Focal impaired awareness orofacial automatism seizure","HP:0032918"]
["Focal aware head nodding automatism seizure","HP:0032919"]
["Focal impaired awareness manual automatism seizure","HP:0032920"]
["Focal impaired awareness pedal automatism seizure","HP:0032921"]
["Focal impaired awareness perseverative automatism seizure","HP:0032922"]
["Focal impaired awareness vocal automatism seizure","HP:0032923"]
["Focal impaired awareness verbal automatism seizure","HP:0032924"]
["Focal impaired awareness sexual automatism seizure","HP:0032925"]
["Focal impaired awareness head nodding automatism seizure","HP:0032926"]
["Focal impaired awareness undressing automatism seizure","HP:0032927"]
["Elevated CSF neurofilamant light chain","HP:0032928"]
["Abnormal chondrocyte morphology","HP:0032929"]
["Lacunar halos around chondrocytes","HP:0032930"]
["obsolete Focal impaired awareness cognitive seizure with impaired attention","HP:0032931"]
["Increased circulating pancreatic triacylglycerol lipase level","HP:0032932"]
["Airway hyperresponsiveness","HP:0032933"]
["Spontaneous cerebrospinal fluid leak","HP:0032934"]
["Posterior crocodile shagreen of the cornea","HP:0032935"]
["Intrusion symptom","HP:0032936"]
["Recurrent, involuntary and intrusive distressing memories","HP:0032937"]
["Recurrent trauma-related distressing dreams","HP:0032938"]
["Physiological reactivity to cues","HP:0032939"]
["Dissociative reaction","HP:0032940"]
["Intense psychological distress to cues","HP:0032941"]
["Avoidance of stimuli associated with traumatic event","HP:0032942"]
["Abnormal urine pH","HP:0032943"]
["Alkaline urine","HP:0032944"]
["Renal interstitial inflammation","HP:0032945"]
["Renal cortical interstitial inflammation","HP:0032946"]
["Renal medullary interstitial inflammation","HP:0032947"]
["Renal interstitial fibrosis","HP:0032948"]
["Renal interstitial calcium phosphate deposits","HP:0032949"]
["Abnormal renal tubular lumen morphology","HP:0032950"]
["Renal tubular viral cytopathic changes","HP:0032951"]
["Usual-type tubular atrophy","HP:0032952"]
["Renal tubular cytomegalovirus inclusions","HP:0032953"]
["Renal tubular adenovirus inclusions","HP:0032954"]
["Renal tubular polyoma virus inclusions","HP:0032955"]
["Renal tubular herpes simplex virus inclusions","HP:0032956"]
["Dysmorphic hematuria","HP:0032957"]
["Urinary oval fat bodies","HP:0032958"]
["Intratubular calcium oxalate casts","HP:0032959"]
["Intratubular calcium phosphate casts","HP:0032960"]
["Magnesium ammonium phosphate crystalluria","HP:0032961"]
["Tubular microcystic change","HP:0032962"]
["Complex renal cyst","HP:0032963"]
["Uric acid crystalluria","HP:0032964"]
["Interstitial emphysema","HP:0032965"]
["Centrilobular emphysema","HP:0032966"]
["Panacinar emphysema","HP:0032967"]
["Expiratory air trapping","HP:0032968"]
["Traction bronchiectasis","HP:0032969"]
["Traction bronchiolectasis","HP:0032970"]
["Computed tomographic halo sign","HP:0032971"]
["Nodular-centrilobular without tree-in-bud pattern on pulmonary HRCT","HP:0032972"]
["Abnormal bronchoalveolar lavage fluid morphology","HP:0032973"]
["Abnormal cellular composition of bronchoalveolar fluid","HP:0032974"]
["Abnormal bronchoalveolar fluid protein level","HP:0032975"]
["Elevated bronchoalveolar lavage fluid lymphocyte proportion","HP:0032976"]
["Elevated bronchoalveolar lavage fluid neutrophil proportion","HP:0032977"]
["Lipid-laden macrophages in bronchoalveolar fluid","HP:0032978"]
["Hemosiderin-laden macrophages in bronchoalveolar fluid","HP:0032979"]
["Absent bronchoalveolar surfactant-protein C","HP:0032980"]
["Absent bronchoalveolar dimeric surfactant-protein B","HP:0032981"]
["obsolete Intraalveolar phospholipid accumulation","HP:0032982"]
["Atoll sign","HP:0032983"]
["Abnormal alveolar macrophage morphology","HP:0032984"]
["Dust particle inclusion in alveolar macrophages","HP:0032985"]
["Smoker-inclusions in alveolar macrophages","HP:0032986"]
["Elevated bronchoalveolar lavage fluid eosinophil proportion","HP:0032987"]
["Persistent head lag","HP:0032988"]
["Delayed ability to roll over","HP:0032989"]
["Localized pulmonary hemorrhage","HP:0032990"]
["Abnormal pulmonary fissure morphology","HP:0032991"]
["Abnormal pulmonary fissure architecture","HP:0032992"]
["Abnormal pulmonary fissure count","HP:0032993"]
["Supernumerary pulmonary fissure","HP:0032994"]
["Decreased pulmonary fissure count","HP:0032995"]
["Abnormal cystatin C level","HP:0032996"]
["Decreased cystatin C level","HP:0032997"]
["Increased cystatin C level","HP:0032998"]
["Increased fecal porphyrin","HP:0032999"]
["Subglottic laryngitis","HP:0033000"]
["Laryngeal papilloma","HP:0033001"]
["Bronchial papilloma","HP:0033002"]
["Tracheal papilloma","HP:0033003"]
["Palmar warts","HP:0033004"]
["Plantar warts","HP:0033005"]
["Diffuse alveolar damage","HP:0033006"]
["Architectural distortion of the lung","HP:0033007"]
["Increased Z-disc width","HP:0033008"]
["Increased fecal coproporphyrin 1","HP:0033009"]
["Increased fecal coproporphyrin 3","HP:0033010"]
["Platystencephaly","HP:0033011"]
["Abnormal salivary metabolite concentration","HP:0033012"]
["Abnormal salivary cortisol level","HP:0033013"]
["Decreased salivary cortisol level","HP:0033014"]
["Increased salivary cortisol level","HP:0033015"]
["Chronic decreased circulating IgD","HP:0033016"]
["Transient decreased circulating IgD","HP:0033017"]
["Chronic absent circulating IgD","HP:0033018"]
["Male reproductive system neoplasm","HP:0033019"]
["Female reproductive system neoplasm","HP:0033020"]
["Transient decreased circulating IgE","HP:0033021"]
["Chronic decreased circulating IgE","HP:0033022"]
["Chronic absent circulating IgE","HP:0033023"]
["Transient decreased circulating IgA","HP:0033024"]
["Chronic absent circulating total IgG","HP:0033025"]
["White oral mucosal macule","HP:0033026"]
["Retinal peau d'orange","HP:0033027"]
["Anti-ribonucleoprotein antibody positivity","HP:0033028"]
["Anti-Jo-1 antibody positivity","HP:0033029"]
["Anti-glomerular basement membrane-antibody positivity","HP:0033030"]
["Hyperpyrexia","HP:0033031"]
["Triggered by an abusive adult","HP:0033032"]
["Anti-MDA5 antibody positivity","HP:0033033"]
["Anti-citrullinated protein antibody positivity","HP:0033034"]
["Abnormal Schwann cell morphology","HP:0033035"]
["Decreased nasal nitric oxide","HP:0033036"]
["Migratory arthritis","HP:0033037"]
["Anti-RNA-polymerase-III-autoantibody positivity","HP:0033038"]
["Increased circulating precipitin level","HP:0033039"]
["Anti-Sm-autoantibody positivity","HP:0033040"]
["Cytokine storm","HP:0033041"]
["Abnormal chorion morphology","HP:0033042"]
["Edematous chorionic villi","HP:0033043"]
["Motor regression","HP:0033044"]
["Bipedal edema","HP:0033045"]
["Michaelis-Gutmann bodies","HP:0033046"]
["Body ache","HP:0033047"]
["Substantia nigra hypointensity on susceptibility-weighted imaging","HP:0033048"]
["Globus pallidus hypointensity on susceptibility-weighted imaging","HP:0033049"]
["Pharyngalgia","HP:0033050"]
["Impaired executive functioning","HP:0033051"]
["Psychogenic non-epileptic seizure","HP:0033052"]
["Pseudoseizure","HP:0033053"]
["Myoclonic tremor","HP:0033054"]
["Impaired ability to plan","HP:0033055"]
["Impaired ability to organize","HP:0033056"]
["Decreased serum terminal complement component","HP:0033057"]
["Decreased serum complement C7","HP:0033058"]
["Decreased serum complement C6","HP:0033059"]
["Decreased serum complement C5","HP:0033060"]
["Increased factor IX activity","HP:0033061"]
["Abnormal factor IX activity","HP:0033062"]
["Shortened sleep cycle","HP:0033063"]
["Renal interstitial globotriaosylceramide inclusions","HP:0033064"]
["Mild albuminuria","HP:0033065"]
["Severe albuminuria","HP:0033066"]
["Cystine crystalluria","HP:0033067"]
["Medication crystalluria","HP:0033068"]
["Renal interstitial IgG4+ plasma cell infiltration","HP:0033069"]
["Impaired self monitoring","HP:0033070"]
["Impaired task monitoring","HP:0033071"]
["Abnormal macroscopic urine appearance","HP:0033072"]
["Urate tophus","HP:0033073"]
["Steroid-responsive anemia","HP:0033074"]
["Inappropriately normal thyroid-stimulating hormone level","HP:0033075"]
["Abnormal circulating free T4 level","HP:0033076"]
["Increased circulating free T4 level","HP:0033077"]
["Decreased circulating free T4 level","HP:0033078"]
["Aplasia/Hypoplasia of the thyroid gland","HP:0033079"]
["Abnormal TSH response to thyrotrophin-releasing hormone stimulation test","HP:0033080"]
["Absent TSH response to thyrotrophin-releasing hormone stimulation test","HP:0033081"]
["Reduced TSH response to thyrotrophin-releasing hormone stimulation test","HP:0033082"]
["Increased circulating farnesol concentration","HP:0033083"]
["Abnormal antral follicle count","HP:0033084"]
["Reduced antral follicle count","HP:0033085"]
["Increased antral follicle count","HP:0033086"]
["Quotidian fever","HP:0033087"]
["Valinuria","HP:0033088"]
["Branched-chain aminoaciduria","HP:0033089"]
["Increased aromatic amino acid level in urine","HP:0033090"]
["Tyrosinuria","HP:0033091"]
["Increased urine succinate level","HP:0033092"]
["Increased glutamine family amino acid level in urine","HP:0033093"]
["Increased urine glutamate level","HP:0033094"]
["Increased sulfur amino acid level in urine","HP:0033095"]
["Increased aspartate family amino acid level in urine","HP:0033096"]
["Increased urine proteinogenic amino acid derivative level","HP:0033097"]
["Increased urinary non-proteinogenic amino acid level","HP:0033098"]
["Increased serine family amino acid in urine","HP:0033099"]
["Increased proteinogenic amino acid level in urine","HP:0033100"]
["Elevated urine aconitic acid level","HP:0033101"]
["Monkey wrench femoral neck","HP:0033102"]
["Elevated circulating CHI3L1 level","HP:0033103"]
["Inappropriate absence of fever","HP:0033104"]
["Interhypothalamic Adhesion","HP:0033105"]
["Elevated circulating D-dimer concentration","HP:0033106"]
["Abnormal circulating proteinogenic amino acid concentration","HP:0033107"]
["Abnormal circulating proteinogenic amino acid derivative concentration","HP:0033108"]
["Abnormal circulating non-proteinogenic amino acid concentration","HP:0033109"]
["Elevated circulating alpha-aminobutyric acid concentration","HP:0033110"]
["3-hydroxyisovaleric aciduria","HP:0033111"]
["Elevated circulating apolipoprotein C-III concentration","HP:0033112"]
["Gallop rhythm","HP:0033113"]
["Quadruple gallop rhythm","HP:0033114"]
["Elevated circulating tenascin-C level","HP:0033115"]
["Duodenal gastric metaplasia","HP:0033116"]
["Duodenitis","HP:0033117"]
["Abnormal right ventricular function","HP:0033118"]
["Elevated right ventricular systolic pressure","HP:0033119"]
["Nummular eczema","HP:0033120"]
["Barking cough","HP:0033121"]
["Absent P wave","HP:0033122"]
["Elevated circulating osteopontin level","HP:0033123"]
["Increased serum sorbitol concentration","HP:0033124"]
["Follicular lymphoma","HP:0033125"]
["Cutaneous necrosis","HP:0033126"]
["Abnormality of the musculoskeletal system","HP:0033127"]
["Delayed ability to crawl","HP:0033128"]
["Abnormal shoulder physiology","HP:0033129"]
["Abnormal renal echogenicity","HP:0033130"]
["Renal medullary hyperechogenicity","HP:0033131"]
["Renal cortical hyperechogenicity","HP:0033132"]
["Renal cortical hypoechogeneity","HP:0033133"]
["Abdominal adhesions","HP:0033134"]
["Hepatic infarction","HP:0033135"]
["Lymph node abscess","HP:0033136"]
["Abnormal pulmonary alveolar system morphology","HP:0033137"]
["Right atrial thrombus","HP:0033138"]
["Elevated circulating uracil concentration","HP:0033139"]
["Blake's pouch cyst","HP:0033140"]
["Severe SARS-CoV-2 infection","HP:0033141"]
["Long nasal bridge","HP:0033142"]
["Jejunitis","HP:0033143"]
["Abnormal circulating ceruloplasmin concentration","HP:0033144"]
["Increased circulating ceruloplasmin concentration","HP:0033145"]
["Elevated circulating methylsuccinic acid concentration","HP:0033146"]
["Abnormal circulating short-chain fatty-acid concentration","HP:0033147"]
["Increased circulating isovaleric acid concentration","HP:0033148"]
["Intrahepatic bile duct dilatation","HP:0033149"]
["Anorectal abscess","HP:0033150"]
["Abnormal pharynx morphology","HP:0033151"]
["Abnormal pharynx physiology","HP:0033152"]
["Elevated circulating dodecenoylcarnitine concentration","HP:0033153"]
["Elevated circulating deoxypyridinoline concentration","HP:0033154"]
["Elevated circulating L-alloisoleucine concentration","HP:0033155"]
["Elevated urine L-alloisoleucine level","HP:0033156"]
["Elevated circulating 3-methylhistidine concentration","HP:0033157"]
["Reduced respiratory ciliary beating frequency","HP:0033158"]
["Reduced urinary inosine level","HP:0033159"]
["Decreased urinary guanosine level","HP:0033160"]
["Abnormal urinary purine level","HP:0033161"]
["Abnormal urinary pyrimidine level","HP:0033162"]
["Small intestinal bacterial overgrowth","HP:0033163"]
["Focal active colitis","HP:0033164"]
["Necrotizing enterocolitis","HP:0033165"]
["Recurrent viral upper respiratory tract infections","HP:0033166"]
["Neutrophilic urticarial dermatosis","HP:0033167"]
["Reduced mevalonate kinase activity","HP:0033168"]
["Reduced total lung capacity","HP:0033169"]
["Abnormal skinfold thickness measurement","HP:0033170"]
["Abnormal triceps skinfold thickness","HP:0033171"]
["Increased triceps skinfold thickness","HP:0033172"]
["Milky appearance of bronchoalveolar lavage fluid","HP:0033173"]
["Bloody bronchoalveolar lavage fluid","HP:0033174"]
["Elevated circulating 5-oxoproline concentration","HP:0033175"]
["Submandibular lymph node enlargement","HP:0033176"]
["Elevated circulating suberic acid concentration","HP:0033177"]
["Increased circulating interleukin 8","HP:0033178"]
["Elevated circulating aconitic acid concentration","HP:0033179"]
["Torsion of appendix of testis","HP:0033180"]
["Spinal epidural abscess","HP:0033181"]
["Increased circulating cathepsin D level","HP:0033182"]
["Bilobed right lung","HP:0033183"]
["Triggered by infection","HP:0033184"]
["Triggered by EBV infection","HP:0033185"]
["Misalignment of the pulmonary veins","HP:0033186"]
["Hyperimidodipeptiduria","HP:0033187"]
["Cystic acne","HP:0033188"]
["Radiculomegaly","HP:0033189"]
["Hypertrichotic hyperpigmented patch","HP:0033190"]
["Increased circulating selenium concentration","HP:0033191"]
["Decreased circulating selenium concentration","HP:0033192"]
["Ballooning hepatocyte degeneration","HP:0033193"]
["Perioral erythema","HP:0033194"]
["Perianal erythema","HP:0033195"]
["Portal inflammation","HP:0033196"]
["Hepatic lobular inflammation","HP:0033197"]
["Triggered by viral infection","HP:0033198"]
["Increased circulating interleukin 10","HP:0033199"]
["Triceps hyporeflexia","HP:0033200"]
["Biceps hyporeflexia","HP:0033201"]
["Brachioradialis hyporeflexia","HP:0033202"]
["Brachioradialis hyperreflexia","HP:0033203"]
["Triceps hyperreflexia","HP:0033204"]
["Biceps hyperreflexia","HP:0033205"]
["Hyperactive Achilles reflex","HP:0033206"]
["Increased proportion autoreactive unresponsive CD21-/low B cells","HP:0033207"]
["Alveolar capillary dysplasia","HP:0033208"]
["Acinar dysplasia","HP:0033209"]
["Congenital alveolar dysplasia","HP:0033210"]
["Decreased total iron binding capacity","HP:0033211"]
["Abnormal total iron binding capacity","HP:0033212"]
["Elevated urine suberic acid level","HP:0033213"]
["Recurrent viral pneumonia","HP:0033214"]
["Obliterative abnormality of the renal glomerulus","HP:0033215"]
["Glomerular hyalinosis","HP:0033216"]
["Perihilar glomerular hyalinosis","HP:0033217"]
["Glomerular hyalinosis at the tubular pole","HP:0033218"]
["Glomerular hyalinosis away from the vascular and tubular poles","HP:0033219"]
["2-ethylhydracylic aciduria","HP:0033220"]
["Increased CD4:CD8 ratio","HP:0033221"]
["Decreased CD4:CD8 ratio","HP:0033222"]
["Abnormal glomerular parietal epithelial cell morphology","HP:0033223"]
["Glomerular parietal epithelial cell hyperplasia","HP:0033224"]
["Glomerular parietal epithelial cell hypertrophy","HP:0033225"]
["Bowman capsular hyaline drops","HP:0033226"]
["Glomerular synechial adhesion","HP:0033227"]
["Triceps areflexia","HP:0033228"]
["Brachioradialis areflexia","HP:0033229"]
["Biceps areflexia","HP:0033230"]
["Abnormal glomerular mesangial cellularity","HP:0033231"]
["Abnormal glomerular mesangial matrix morphology","HP:0033232"]
["Paramesangial deposits","HP:0033233"]
["Mesangial hyaline deposition","HP:0033234"]
["Difficulty descending stairs","HP:0033235"]
["Cognitive fatigue","HP:0033236"]
["Visceral epithelial cell detachment","HP:0033237"]
["Podocyte microvillous transformation","HP:0033238"]
["Visceral epithelial cell capping","HP:0033239"]
["Elevated RV/TLC ratio","HP:0033240"]
["Polyalveolar lobe","HP:0033241"]
["Horseshoe lung","HP:0033242"]
["Pulmonary necrosis","HP:0033243"]
["Glycogen accumulation in pulmonary interstitial cells","HP:0033244"]
["Abnormal alveolar type II pneumocyte morphology","HP:0033245"]
["Type II pneumocyte hypertrophy","HP:0033246"]
["Pulmonary amyloidosis","HP:0033247"]
["Multiple pulmonary interstitial hyalinized nodules","HP:0033248"]
["Focal substantia nigra T2 hyperintensity","HP:0033249"]
["Nailfold capillary tortuosity","HP:0033250"]
["Elevated residual volume","HP:0033251"]
["Palmar hyperlinearity","HP:0033252"]
["Reduced circulating interferon gamma","HP:0033253"]
["Anorectal stricture","HP:0033254"]
["Congenital lobar overinflation","HP:0033255"]
["Pancolitis","HP:0033256"]
["Delayed ability to walk with support","HP:0033257"]
["Sudden unexpected death in epilepsy","HP:0033258"]
["Non-motor seizure","HP:0033259"]
["Livedo racemosa","HP:0033260"]
["Renal artery aneurysm","HP:0033261"]
["Transphyseal fracture of the distal humerus","HP:0033262"]
["Absent platelet dense granules","HP:0033263"]
["Enlarged platelet dense granules","HP:0033264"]
["Podocyte myelin figures","HP:0033265"]
["Glomerular pseudocrescent","HP:0033266"]
["Abnormal glomerular capillary lumen morphology","HP:0033267"]
["Deflation of the glomerular tuft","HP:0033268"]
["Glomerular capillary collapse","HP:0033269"]
["Glomerular capillary congestion","HP:0033270"]
["Glomerular capillary microaneurysm","HP:0033271"]
["Abnormal glomerular endothelial cell morphology","HP:0033272"]
["Loss of glomerular endothelial cell fenestration","HP:0033273"]
["Glomerular endotheliosis","HP:0033274"]
["Glomerular endothelial tubuloreticular inclusion","HP:0033275"]
["obsolete Glomerular endocapillary hypercellularity","HP:0033276"]
["Glomerular fibrinoid necrosis","HP:0033277"]
["Reduced CD95-induced lymphocyte apoptosis","HP:0033278"]
["Enterocutaneous fistula","HP:0033279"]
["Paratracheal lymphadenopathy","HP:0033280"]
["Circulating nucleated red blood cells","HP:0033281"]
["Abnormal glomerular basement membrane morphology","HP:0033282"]
["Segmentally thickened glomerular basement membrane","HP:0033283"]
["Diffusely thickened glomerular basement membrane","HP:0033284"]
["Thickened glomerular basement membranes with no electron dense deposits","HP:0033285"]
["Thickened glomerular basement membranes with electron dense deposits","HP:0033286"]
["Glomerular basement membrane lucencies","HP:0033287"]
["Glomerular basement membrane spikes","HP:0033288"]
["Glomerular basement membrane wrinkling","HP:0033289"]
["Glomerular subendothelial widening","HP:0033290"]
["Glomerular karyhorrhectic debris","HP:0033291"]
["Glomerular fibrin thrombus","HP:0033292"]
["Glomerular hyaline pseudothrombus","HP:0033293"]
["Glomerular lipoprotein thrombus","HP:0033294"]
["Mesangial Immune complex deposition","HP:0033295"]
["Binucleated visceral epithelial cells","HP:0033296"]
["Multinucleated visceral epithelial cells","HP:0033297"]
["Abnormal circulating complement factor H related protein 1 concentration","HP:0033298"]
["Reduced circulating complement factor H related protein 1 concentration","HP:0033299"]
["Increased circulating complement factor H related protein 1 concentration","HP:0033300"]
["Elevated circulating 1-methylhistidine concentration","HP:0033301"]
["Elevated circulating 4-hydroxyphenylacetic acid concentration","HP:0033302"]
["Elevated urinary monocarboxylic acid level","HP:0033303"]
["Elevated urine 4-hydroxyphenylacetic acid level","HP:0033304"]
["Abnormal circulating fetuin A concentration","HP:0033305"]
["Decreased circulating fetuin A concentration","HP:0033306"]
["Increased circulating fetuin A concentration","HP:0033307"]
["Patellar overgrowth","HP:0033308"]
["Ileoileal intussusception","HP:0033309"]
["Osmotic diarrhea","HP:0033310"]
["Abdominal aortic dissection","HP:0033311"]
["Abnormal Bowman space morphology","HP:0033312"]
["Urinary space collagenization","HP:0033313"]
["Visceral epithelial cell hyperplasia","HP:0033314"]
["Visceral epithelial hyaline droplets","HP:0033315"]
["Glomerular crescent formation","HP:0033316"]
["Cellular crescent","HP:0033317"]
["Fibrocellular crescent","HP:0033318"]
["Fibrous crescent","HP:0033319"]
["Mesangial cell loss","HP:0033320"]
["Glomerular obsolescence","HP:0033321"]
["Glomerular capillary wall duplication without cellular interposition","HP:0033322"]
["Glomerular capillary wall duplication with cellular interposition","HP:0033323"]
["Elevated circulating homovanillic acid concentration","HP:0033324"]
["Elevated circulating sebacic acid concentration","HP:0033325"]
["Elevated circulating hydroxyphenlyllactic acid concentration","HP:0033326"]
["Nail psoriasis","HP:0033327"]
["Type II pneumocyte hyperplasia","HP:0033328"]
["Abnormal postural reflex","HP:0033329"]
["Impaired neck-righting reflex","HP:0033330"]
["Acute phase response","HP:0033331"]
["Elevated circulating amyloid A","HP:0033332"]
["Jaw contracture","HP:0033333"]
["Abnormal embryonic development","HP:0033334"]
["Abnormal preimplantation embryonic development","HP:0033335"]
["Zygotic cleavage failure","HP:0033336"]
["Abnormal gametogenesis","HP:0033337"]
["Abnormal female meiosis","HP:0033338"]
["Increased circulating inosine concentration","HP:0033339"]
["Increased circulating guanosine concentration","HP:0033340"]
["Elevated circulating sitosterol concentration","HP:0033341"]
["Anti-aquaporin 4 antibody positivity","HP:0033342"]
["Mucoid diarrhea","HP:0033343"]
["Pleural cobblestoning","HP:0033344"]
["Neuralgia","HP:0033345"]
["Psychic epileptic aura","HP:0033346"]
["Cognitive epileptic aura","HP:0033347"]
["Epileptic aura","HP:0033348"]
["Seizure cluster","HP:0033349"]
["Elevated forced expiratory volume in one second","HP:0033350"]
["Candida esophagitis","HP:0033351"]
["Pulmonary hypertensive crisis","HP:0033352"]
["Abnormal blood vessel morphology","HP:0033353"]
["Abnormal urine metabolite level","HP:0033354"]
["Increased urine deoxypyridinoline level","HP:0033355"]
["Elevated circulating o-phosphoserine concentration","HP:0033356"]
["Limited head rotation","HP:0033357"]
["Abnormal urine osmolality","HP:0033358"]
["Hyperosthenuria","HP:0033359"]
["Impaired ability to shift attention","HP:0033360"]
["Nasal ulcer","HP:0033361"]
["Recurrent coughing spasms","HP:0033362"]
["Hyaline membranes","HP:0033363"]
["Lipoid pneumonia","HP:0033364"]
["Endogenous lipoid pneumonia","HP:0033365"]
["Exogenous lipoid pneumonia","HP:0033366"]
["Orthodeoxia","HP:0033367"]
["Platypnea","HP:0033368"]
["Cavitating leukodystrophy","HP:0033369"]
["Bronchial telangiectasia","HP:0033370"]
["Bronchocentric granulomatosis","HP:0033371"]
["Abnormal KCO","HP:0033372"]
["Increased KCO","HP:0033373"]
["Decreased KCO","HP:0033374"]
["Anthracosis","HP:0033375"]
["Alveolar septal thickening","HP:0033376"]
["Increased airway neuroendocrine cells","HP:0033377"]
["Increased airway neuroepithelial bodies","HP:0033378"]
["Bilateral superior vena cava","HP:0033379"]
["Nasal chondritis","HP:0033380"]
["Elevated circulating stearoylcarnitine concentration","HP:0033381"]
["Elevated circulating palmitoylcarnitine concentration","HP:0033382"]
["Decreased compound muscle action potential amplitude","HP:0033383"]
["Elevated urinary collagen degradation products","HP:0033384"]
["Elevated urine pyridinoline level","HP:0033385"]
["Abnormal circulating collagen degradation product concentration","HP:0033386"]
["Elevated circulating pyridinoline concentration","HP:0033387"]
["Abnormal bronchial artery morphology","HP:0033388"]
["Bronchopulmonary anastomosis","HP:0033389"]
["Bronchial artery dilatation","HP:0033390"]
["Bronchial artery hypertrophy","HP:0033391"]
["Perivascular pre-capillary pulmonary artery inflammation","HP:0033392"]
["Irregularly shaped sperm tail","HP:0033393"]
["Anti-carbonic anhydrase II antibody positivity","HP:0033394"]
["Antilactoferrin antibody positivity","HP:0033395"]
["Glomerular extracapillary fibrin","HP:0033396"]
["Bowman-space proteinaceous debris","HP:0033397"]
["Pleural plaque","HP:0033398"]
["Persistent fever","HP:0033399"]
["Acute abdomen","HP:0033400"]
["Tissue ischemia","HP:0033401"]
["Digital ischemia","HP:0033402"]
["Testicular ischemia","HP:0033403"]
["Intestinal ischemia","HP:0033404"]
["Abnormal circulating organic amino compound concentration","HP:0033405"]
["Elevated circulating o-phosphoethanolamine concentration","HP:0033406"]
["Elevated urine acetoacetic acid level","HP:0033407"]
["Elevated circulating acetoacetic acid concentration","HP:0033408"]
["Elevated urinary 2-hydroxybutyric acid","HP:0033409"]
["Elevated circulating cartilage oligomeric matrix protein concentration","HP:0033410"]
["Lower extremity akinesia","HP:0033411"]
["Upper extremity akinesia","HP:0033412"]
["Upper extremity hypokinesia","HP:0033413"]
["Lower extremity hypokinesia","HP:0033414"]
["Cardiac tamponade","HP:0033415"]
["Hip adductor weakness","HP:0033416"]
["Elevated circulating hydroxybutyric acid concentration","HP:0033417"]
["Elevated circulating 2-hydroxybutyric acid concentration","HP:0033418"]
["Elevated circulating 3-hydroxybutyric acid concentration","HP:0033419"]
["Pulmonary arterial plexiform lesion","HP:0033420"]
["Pulmonary artery intimal thickening","HP:0033421"]
["Pulmonary artery adventitial fibrosis","HP:0033422"]
["Pulmonary arterial hypertension with positive acute response to NO challenge","HP:0033423"]
["Pulmonary arterial hypertension with lack of acute response to NO challenge","HP:0033424"]
["Periungual erythema","HP:0033425"]
["Pulmonary air embolism","HP:0033426"]
["Pulmonary capillary angioectasia","HP:0033427"]
["Systemic autoinflammation","HP:0033428"]
["Neuroinflammation","HP:0033429"]
["Non-infectious meningitis","HP:0033430"]
["Cytomegalovirus colitis","HP:0033431"]
["Opportunistic viral infection","HP:0033432"]
["Ileocecal ulcer","HP:0033433"]
["Nasal septum perforation","HP:0033434"]
["Abnormal circulating keto acid concentration","HP:0033435"]
["Elevated circulating 3-methyl-2-oxovaleric acid concentration","HP:0033436"]
["Elevated circulating 4-methyl-2-oxopentanoic acid concentration","HP:0033437"]
["Elevated circulating myoglobin concentration","HP:0033438"]
["Elevated circulating decenoylcarnitine concentration","HP:0033439"]
["Elevated circulating octenoylcarnitine concentration","HP:0033440"]
["Elevated circulating hexanoylcarnitine concentration","HP:0033441"]
["Elevated circulating glutarylcarnitine concentration","HP:0033442"]
["Elevated circulating propionylcarnitine concentration","HP:0033443"]
["Elevated circulating dodecanoylcarnitine concentration","HP:0033444"]
["Reduced circulating acylcarnitine concentration","HP:0033445"]
["Elevated circulating butyrylcarnitine concentration","HP:0033446"]
["Elevated circulating isovalerylcarnitine concentration","HP:0033447"]
["Increased mid-arm muscle circumference","HP:0033448"]
["Decreased mid-arm muscle circumference","HP:0033449"]
["Abnormal circulating prealbumin concentration","HP:0033450"]
["Increased circulating prealbumin concentration","HP:0033451"]
["Decreased circulating prealbumin concentration","HP:0033452"]
["Limited neck extension","HP:0033453"]
["Tube feeding","HP:0033454"]
["Elevated urinary dicarboxylic acid level","HP:0033455"]
["Elevated urine keto acid level","HP:0033456"]
["Elevated urine 3-methyl-2-oxovaleric acid level","HP:0033457"]
["Elevated urine 4-methyl-2-oxopentanoic acid level","HP:0033458"]
["Decreased circulating apolipoprotein concentration","HP:0033459"]
["Increased circulating apolipoprotein circulation","HP:0033460"]
["Elevated circulating 3-hydroxylinoleylcarnitine concentration","HP:0033461"]
["Elevated circulating oleylcarnitine concentration","HP:0033462"]
["obsolete Elevated circulating palmitoleylcarnitine concentration","HP:0033463"]
["Elevated circulating 3-hydroxypalmitoleylcarnitine concentration","HP:0033464"]
["Elevated circulating tetradecanolycarnitine concentration","HP:0033465"]
["Weak grip","HP:0033466"]
["Low 10-minute APGAR score","HP:0033467"]
["10-minute APGAR score of 0","HP:0033468"]
["10-minute APGAR score of 1","HP:0033469"]
["10-minute APGAR score of 2","HP:0033470"]
["10-minute APGAR score of 3","HP:0033471"]
["10-minute APGAR score of 4","HP:0033472"]
["10-minute APGAR score of 5","HP:0033473"]
["10-minute APGAR score of 6","HP:0033474"]
["Limited shoulder abduction","HP:0033475"]
["Extractable nuclear antigen positivity","HP:0033476"]
["Abnormal circulating lipoprotein lipase concentration","HP:0033477"]
["Increased circulating lipoprotein lipase concentration","HP:0033478"]
["Abnormal circulating bilirubin concentration","HP:0033479"]
["Hypobilirubinemia","HP:0033480"]
["Limited lateral neck flexion","HP:0033481"]
["Limited shoulder flexion","HP:0033482"]
["Podocyte infolding","HP:0033483"]
["Elevated circulating linoleylcarnitine concentration","HP:0033484"]
["Glomerular basement membrane disruption","HP:0033485"]
["Abnormal glomerular basement membrane texture","HP:0033486"]
["Glomerular basement membranes powdery deposit","HP:0033487"]
["Glomerular endocapillary leukocyte hypercellularity","HP:0033488"]
["Glomerular endocapillary neutrophil hypercellularity","HP:0033489"]
["Glomerular endocapillary foam-cell hypercellularity","HP:0033490"]
["Global mesangial sclerosis","HP:0033491"]
["Podocyte cytoskeletal condensation","HP:0033492"]
["Mesangial matrix expansion","HP:0033493"]
["Glomerular basement membrane amyloid spicule","HP:0033494"]
["Segmental glomerulosclerosis","HP:0033495"]
["Perihilar segmental glomerulosclerosis","HP:0033496"]
["Tip variant segmental glomerulosclerosis","HP:0033497"]
["Segmental glomerulosclerosis away from the vascular and tubular poles","HP:0033498"]
["Glomerular basement membrane electron dense deposits","HP:0033499"]
["Subendothelial glomerular basement membrane electron dense deposits","HP:0033500"]
["Subepithelial glomerular basement membrane electron dense deposits","HP:0033501"]
["Abnormal esterified to free carnitine ratio","HP:0033502"]
["Elevated CSF fumarate","HP:0033503"]
["Elevated circulating fumarate concentration","HP:0033504"]
["Livedo reticularis","HP:0033505"]
["Increased esterified to free carnitine ratio","HP:0033506"]
["Decreased esterified to free carnitine ratio","HP:0033507"]
["EBV meningitis","HP:0033508"]
["EBV encephalitis","HP:0033509"]
["Cutaneous horn","HP:0033510"]
["Drug addiction","HP:0033511"]
["Stimulant addiction","HP:0033512"]
["Cocaine addiction","HP:0033513"]
["Amphetamine addiction","HP:0033514"]
["Opioid addiction","HP:0033515"]
["Benzodiazepine addiction","HP:0033516"]
["Heroin addiction","HP:0033517"]
["Methylphenidate addiction","HP:0033518"]
["Methamphetamine addiction","HP:0033519"]
["Paradoxical embolism","HP:0033520"]
["Nasal dryness","HP:0033521"]
["Cerebral cavernous malformation","HP:0033522"]
["Abnormal sperm principal piece morphology","HP:0033523"]
["Abnormal sperm axoneme morphology","HP:0033524"]
["Absent sperm axoneme central pair complex","HP:0033525"]
["Limited ankle dorsiflexion","HP:0033526"]
["Decreased gonadotropin-stimulated testosterone-to-androstenedione ratio","HP:0033527"]
["Abnormal cardiac output","HP:0033528"]
["Abnormal cardiac index","HP:0033529"]
["Increased cardiac index","HP:0033530"]
["Decreased cardiac index","HP:0033531"]
["Decreased cardiac output","HP:0033532"]
["Increased cardiac output","HP:0033533"]
["Increased circulating brain natriuretic peptide concentration","HP:0033534"]
["Reduced platelet dense granules","HP:0033535"]
["Reduced platelet alpha granules","HP:0033536"]
["Mosaic pulmonary attenuation pattern","HP:0033537"]
["Aortic annulus calcification","HP:0033538"]
["Bilateral apical pulmonary fibrosis","HP:0033539"]
["Reversible airflow obstruction","HP:0033540"]
["Irreversible airflow obstruction","HP:0033541"]
["Bronchial wall thickening","HP:0033542"]
["Nicotine addiction","HP:0033543"]
["Mesangial fibril deposition","HP:0033544"]
["Mesangial fibrillary deposits","HP:0033545"]
["Mesangial microfibril deposition","HP:0033546"]
["Mesangial immunotactoid deposits","HP:0033547"]
["Mesangial amyloid deposition","HP:0033548"]
["Nodular mesangiosclerosis","HP:0033549"]
["Necrotizing pulmonary granulomatosis","HP:0033550"]
["Non-necrotizing pulmonary granulomatosis","HP:0033551"]
["Chronic villitis","HP:0033552"]
["Septic embolism","HP:0033553"]
["Anti-Mi2 antibody positivity","HP:0033554"]
["Anti-Ro/SS-A antibody positivity","HP:0033555"]
["Anti-nucleoporin 62 antibody positivity","HP:0033556"]
["Anti-proteinase 3 antibody positivity","HP:0033557"]
["Anti-histone antibody positivity","HP:0033558"]
["Anti-myeloperoxidase antibody positivity","HP:0033559"]
["Anti-PM-Scl antibody positivity","HP:0033560"]
["Anti-bactericidal/permeability-increasing protein antibody positivity","HP:0033561"]
["Anti-glycoprotein-210 antibody positivity","HP:0033562"]
["Anti-tissue transglutaminase antibody positivity","HP:0033563"]
["Stasis dermatitis","HP:0033564"]
["Anti-epidermal transglutaminase antibody positivity","HP:0033565"]
["Abnormal ventricular axis","HP:0033566"]
["Right axis deviation","HP:0033567"]
["Left axis deviation","HP:0033568"]
["Extreme axis deviation","HP:0033569"]
["Indeterminate ventricular axis","HP:0033570"]
["Peripheral lung neovascularity","HP:0033571"]
["Anti-H1 antibody positivity","HP:0033572"]
["Anti-H4 antibody positivity","HP:0033573"]
["Anti-H3 antibody positivity","HP:0033574"]
["Anti-H2A antibody positivity","HP:0033575"]
["Anti-H2B antibody positivity","HP:0033576"]
["In situ pulmonary artery thrombosis","HP:0033577"]
["Pre-capillary pulmonary hypertension","HP:0033578"]
["Decreased growth hormone responses to growth hormone-releasing hormone challenge","HP:0033579"]
["Compound motor action potential abnormality","HP:0033580"]
["Absent peripheral lymph nodes in presence of infection","HP:0033581"]
["Pulmonary interstitial lymphocyte infiltration","HP:0033582"]
["Follicular bronchiolitis","HP:0033583"]
["Nonspecific interstitial pneumonia","HP:0033584"]
["Fibrotic non-specific interstitial pneumonia","HP:0033585"]
["Cellular non-specific interstitial pneumonia","HP:0033586"]
["Vulvar abscess","HP:0033587"]
["Labial adhesion","HP:0033588"]
["Flatulence","HP:0033589"]
["Inguinal abscess","HP:0033590"]
["Staghorn calculus","HP:0033591"]
["Anti-H3-H4 antibody positivity","HP:0033592"]
["Anti-H2A-H2B antibody positivity","HP:0033593"]
["Elevated urinary 7-biopterin level","HP:0033594"]
["Elevated circulating globotriaosylceramide concentration","HP:0033595"]
["Elevated urinary 3-methylcrotonylglycine level","HP:0033596"]
["Decreased mucosal sucrase-isomaltase activity","HP:0033597"]
["Fibrillar glomerular subepithelial deposits","HP:0033598"]
["Glomerular amyloid subepithelial deposits","HP:0033599"]
["Fibrillary glomerular subepithelial deposits","HP:0033600"]
["Glomerular subepithelial immune-complex deposits","HP:0033601"]
["Glomerular hyaline subepithelial deposits","HP:0033602"]
["Glomerular subepithelial deposits","HP:0033603"]
["Glomerular capillary wire loop deposits","HP:0033604"]
["Pustular rash","HP:0033605"]
["Bone marrow maturation arrest","HP:0033606"]
["Bone marrow arrest at the promyelocytic stage","HP:0033607"]
["Pulmonary nodule","HP:0033608"]
["Solid pulmonary nodule","HP:0033609"]
["Subsolid pulmonary nodule","HP:0033610"]
["Part-solid pulmonary nodule","HP:0033611"]
["Pure ground-glass pulmonary nodule","HP:0033612"]
["Perifissural pulmonary nodule","HP:0033613"]
["Tracheal bronchus","HP:0033614"]
["Displaced tracheal bronchus","HP:0033615"]
["Accessory cardiac bronchus","HP:0033616"]
["Supernumerary tracheal bronchus","HP:0033617"]
["Displaced lobar tracheal bronchus","HP:0033618"]
["Typical perifissural nodule","HP:0033619"]
["Atypical perifissural nodule","HP:0033620"]
["Bronchial diverticula","HP:0033621"]
["Migratory erythematous plaque","HP:0033622"]
["Birth history","HP:0033623"]
["History of congenital CMV infection","HP:0033624"]
["Emotional insecurity","HP:0033625"]
["Increased non-HDL cholesterol concentration","HP:0033626"]
["Increased urine harderoporphyrin level","HP:0033627"]
["Bowel irritability","HP:0033628"]
["IgG4 autoimmune antibody positivity","HP:0033629"]
["Brain fog","HP:0033630"]
["Spondylitis","HP:0033631"]
["Abnormal alveolar volume","HP:0033632"]
["Decreased alveolar volume","HP:0033633"]
["Increased alveolar volume","HP:0033634"]
["Post-capillary pulmonary hypertension","HP:0033635"]
["Combined pre- and post-capillary pulmonary hypertension","HP:0033636"]
["Anti-endomysial antibody positivity","HP:0033637"]
["Intralobular septal thickening","HP:0033638"]
["Septic pulmonary embolism","HP:0033639"]
["Acetabular erosions","HP:0033640"]
["Aortic valve leaflet calcification","HP:0033641"]
["Mitral valve leaflet calcification","HP:0033642"]
["Increased circulating very long-chain fatty acid concentration","HP:0033643"]
["Elevated circulating erythropoietin concentration","HP:0033644"]
["Midline brainstem cleft","HP:0033645"]
["Absent hippocampal commissure","HP:0033646"]
["Silhouette sign","HP:0033647"]
["Pulmonary pseudocavity","HP:0033648"]
["Paraseptal emphysema","HP:0033649"]
["Pulmonary parenchymal band","HP:0033650"]
["Pulmonary mycetoma","HP:0033651"]
["Broncholith","HP:0033652"]
["Bronchocele","HP:0033653"]
["Beaded septum sign","HP:0033654"]
["Pulmonary cavity","HP:0033655"]
["Juxtaphrenic peak","HP:0033656"]
["Linear atelectasis","HP:0033657"]
["Rounded atelectasis","HP:0033658"]
["Crazy-paving pattern","HP:0033659"]
["Hand paresthesia","HP:0033660"]
["Air crescent","HP:0033661"]
["Air bronchogram","HP:0033662"]
["Air trapping","HP:0033663"]
["Ganglioglioma","HP:0033664"]
["Diminished health-related quality of life","HP:0033665"]
["Diminished physical functioning","HP:0033666"]
["Diminished mental health","HP:0033667"]
["Abnormal amygdala morphology","HP:0033668"]
["Enlarged amygdala","HP:0033669"]
["Organizing pneumonia","HP:0033670"]
["Pulmonary oligemia","HP:0033671"]
["Positive carpal Tinel sign","HP:0033672"]
["Positive Phalen test","HP:0033673"]
["Pulmonary blood flow redistribution","HP:0033674"]
["Frailty","HP:0033675"]
["Posttraumatic stress symptom","HP:0033676"]
["Acute respiratory distress syndrome","HP:0033677"]
["Acute coronary syndrome","HP:0033678"]
["Abnormal red nucleus morphology","HP:0033679"]
["Pilocytic astrocytoma","HP:0033680"]
["Oligodendroglioma","HP:0033681"]
["Pleomorphic xanthoastrocytoma","HP:0033682"]
["Jaw hyperreflexia","HP:0033683"]
["Abnormal muscle fiber-type distribution","HP:0033684"]
["Fiber type grouping","HP:0033685"]
["Mitochondrial hypertrophy","HP:0033686"]
["Short term memory impairment","HP:0033687"]
["Long term memory impairment","HP:0033688"]
["Anterograde memory impairment","HP:0033689"]
["Retrograde memory impairment","HP:0033690"]
["Procedural memory loss","HP:0033691"]
["Declarative memory loss","HP:0033692"]
["Phantosmia","HP:0033693"]
["Tactile hallucination","HP:0033694"]
["Occupational disability","HP:0033695"]
["Pseudo-chilblain","HP:0033696"]
["Vesicular eruption","HP:0033697"]
["Monomorphic vesicular eruption","HP:0033698"]
["Polymorphic vesicular eruption","HP:0033699"]
["Papulovesicular eruption","HP:0033700"]
["Cortical sclerosis of the iliac wing","HP:0033701"]
["Subpleural curvilinear line","HP:0033702"]
["Dysembryoplastic neuroepithelial tumor","HP:0033703"]
["Elevated urinary homogentisic acid","HP:0033704"]
["Tearfulness","HP:0033705"]
["Progressive massive fibrosis","HP:0033706"]
["Perioral hyperkeratosis","HP:0033707"]
["Anti-3-hydroxy- 3-methylglutaryl-coA reductase antibody positivity","HP:0033708"]
["Increased sputum production","HP:0033709"]
["Rest dyspnea","HP:0033710"]
["Pulmonary interstitial thickening","HP:0033711"]
["Repeated implantation failure","HP:0033712"]
["Anti-signal recognition particle antibody positivity","HP:0033713"]
["Multiple meningiomata","HP:0033714"]
["Hippocampal sclerosis","HP:0033715"]
["EEG with frontal epileptiform discharges","HP:0033716"]
["EEG with temporal epileptiform discharges","HP:0033717"]
["EEG with central epileptiform discharges","HP:0033718"]
["EEG with parietal epileptiform discharges","HP:0033719"]
["EEG with occipital epileptiform discharges","HP:0033720"]
["EEG with centrotemporal epileptiform discharges","HP:0033721"]
["Autonomic epileptic aura","HP:0033722"]
["Abnormal cerebral venous sinus morphology","HP:0033723"]
["Central venous sinus thrombosis","HP:0033724"]
["Thin corpus callosum","HP:0033725"]
["Lupus nephritis","HP:0033726"]
["Diffuse lupus nephritis","HP:0033727"]
["Mesangial proliferative lupus nephritis","HP:0033728"]
["Minimal mesangial lupus nephritis","HP:0033729"]
["Membranous lupus nephritis","HP:0033730"]
["Focal lupus nephritis","HP:0033731"]
["Advanced sclerotic lupus nephritis","HP:0033732"]
["Low-grade vesicoureteral reflux","HP:0033733"]
["High-grade vesicoureteral reflux","HP:0033734"]
["Grade I vesicoureteral reflux","HP:0033735"]
["Grade II vesicoureteral reflux","HP:0033736"]
["Grade III vesicoureteral reflux","HP:0033737"]
["Primary vesicoureteral reflux","HP:0033738"]
["Secondary vesicoureteral reflux","HP:0033739"]
["Grade V vesicoureteral reflux","HP:0033740"]
["Grade IV vesicoureteral reflux","HP:0033741"]
["Intrarenal reflux","HP:0033742"]
["Macular agenesis","HP:0033743"]
["Global cerebellar dysplasia","HP:0033744"]
["Dysplasia of the superior cerebellar vermis","HP:0033745"]
["Intrascapular pain","HP:0033746"]
["Abnormal exteroceptive sensation","HP:0033747"]
["Hypoesthesia","HP:0033748"]
["Abnormal functional residual capacity","HP:0033749"]
["Reduced functional residual capacity","HP:0033750"]
["Elevated functional residual capacity","HP:0033751"]
["Abnormal residual volume","HP:0033752"]
["Reduced residual volume","HP:0033753"]
["Abnormal left ventricular end-diastolic volume","HP:0033754"]
["Increased left ventricular end-diastolic volume","HP:0033755"]
["Decreased left ventricular end-diastolic volume","HP:0033756"]
["Pancreatic steatosis","HP:0033757"]
["Labial abscess","HP:0033758"]
["Impaired renal tubular reabsorption of magnesium","HP:0033759"]
["Decreased maximal oxygen uptake","HP:0033760"]
["Xanthogranulomatous pyelonephritis","HP:0033761"]
["Middle cerebral artery stroke","HP:0033762"]
["Death in adulthood","HP:0033763"]
["Death in middle age","HP:0033764"]
["Death in late adulthood","HP:0033765"]
["Polymelia","HP:0033766"]
["Abnormal single motor unit action potential","HP:0033767"]
["Penile thrush","HP:0033768"]
["Fundic gland polyposis","HP:0033769"]
["Gastric adenocarcinoma","HP:0033770"]
["Pleuritic chest pain","HP:0033771"]
["Abnormal RV/TLC ratio","HP:0033772"]
["Decreased RV/TLC ratio","HP:0033773"]
["Impaired renal tubular reabsorption of uric acid","HP:0033774"]
["Pulmonary imaging sign","HP:0033775"]
["Enamel pearls","HP:0033776"]
["Supernumerary cusp","HP:0033777"]
["Leung cusp","HP:0033778"]
["Barrel-shaped tooth","HP:0033779"]
["Bulbous tooth","HP:0033780"]
["Tapered tooth","HP:0033781"]
["Semilunar tooth","HP:0033782"]
["Molar incisor malformation","HP:0033783"]
["Dentin dysplasia","HP:0033784"]
["Enamel agenesis","HP:0033785"]
["Hypomature enamel","HP:0033786"]
["Cementum hypoplasia","HP:0033787"]
["Cementum overgrowth","HP:0033788"]
["Triggered by cheese ingestion","HP:0033789"]
["Thistle tube shaped pulp","HP:0033790"]
["Tooth ankylosis","HP:0033791"]
["Cross bite","HP:0033792"]
["Triggered by food ingestion","HP:0033793"]
["Acral overgrowth","HP:0033794"]
["Growth without growth hormone","HP:0033795"]
["Abnormal leukocyte physiology","HP:0033796"]
["Leukocyte migration defect","HP:0033797"]
["Impaired leukocyte adhesion","HP:0033798"]
["Abnormal circulating sex hormone concentration","HP:0033799"]
["Blistering by anatomical location","HP:0033800"]
["Blistering by histological location","HP:0033801"]
["Intra-epidermal blistering","HP:0033802"]
["Blistering with sub-lamina densa plane of cleavage","HP:0033803"]
["Subepidermal blistering","HP:0033804"]
["Non-necrotizing granuloma","HP:0033805"]
["Abnormal epidermis stratum granulosum morphology","HP:0033806"]
["Absent keratohyalin granules","HP:0033807"]
["Spermatocele","HP:0033808"]
["Increased circulating 17 hydroxypregnenolone concentration","HP:0033809"]
["Decreased circulating dihydrotestosterone concentration","HP:0033810"]
["Abnormal circulating androstenedione concentration","HP:0033811"]
["Decreased circulating androstenedione concentration","HP:0033812"]
["Perilobular","HP:0033813"]
["Paraseptal","HP:0033814"]
["Bronchocentric","HP:0033815"]
["Centrilobular","HP:0033816"]
["Miliary","HP:0033817"]
["Reticular","HP:0033818"]
["Perilymphatic","HP:0033819"]
["Apical","HP:0033820"]
["Pulmonary mass","HP:0033821"]
["Mass on thoracic imaging","HP:0033822"]
["Mediastinal mass","HP:0033823"]
["Pleural mass","HP:0033824"]
["Superior mediastinal mass","HP:0033825"]
["Inferior mediastinal mass","HP:0033826"]
["Anterior mediastinal mass","HP:0033827"]
["Middle mediastinal mass","HP:0033828"]
["Posterior mediastinal mass","HP:0033829"]
["Hyperdense pulmonary mass","HP:0033830"]
["Cavitating pulmonary mass","HP:0033831"]
["Livedo","HP:0033832"]
["Elevated circulating soluble CD25 concentration","HP:0033833"]
["Malaise","HP:0033834"]
["Abnormal renal vascular morphology","HP:0033835"]
["Abnormal intrarenal artery morphology","HP:0033836"]
["Abnormal arcuate artery morphology","HP:0033837"]
["Dysphoria","HP:0033838"]
["Testicular pain","HP:0033839"]
["Postmenopausal bleeding","HP:0033840"]
["Ocular pruritus","HP:0033841"]
["Early satiety","HP:0033842"]
["Postprandial fullness","HP:0033843"]
["Tachyphrenia","HP:0033844"]
["Sense of impending doom","HP:0033845"]
["Spinal hypomyelination","HP:0033846"]
["Phantageusia","HP:0033847"]
["Receptive aphasia","HP:0033848"]
["Bilingual aphasia","HP:0033849"]
["Coldness","HP:0033850"]
["Oculomotor synkinesis","HP:0033851"]
["Abnormal intrarenal vein morphology","HP:0033852"]
["Abnormal arcuate vein morphology","HP:0033853"]
["Abnormal interlobular vein morphology","HP:0033854"]
["Abnormal interlobular vein lumen morphology","HP:0033855"]
["Cholesterol emboli within interlobular vein lumen","HP:0033856"]
["Intraluminal thrombi within interlobular veins","HP:0033857"]
["Organized thrombi within interlobular vein lumen","HP:0033858"]
["Abnormal peritubular capillary morphology","HP:0033859"]
["Abnormal cortical peritubular capillary morphology","HP:0033860"]
["Multilamellation of cortical peritubular capillary basement membranes","HP:0033861"]
["Cortical peritubular capillaritis","HP:0033862"]
["Abnormal cortical peritubular capillary lumen morphology","HP:0033863"]
["Abnormal medullary peritubular capillary morphology","HP:0033864"]
["Medullary peritubular capillaritis","HP:0033865"]
["Medullary peritubular capillary erythrocyte congestion","HP:0033866"]
["Multilamellation of medullary peritubular capillary basement membranes","HP:0033867"]
["Abnormal medullary peritubular capillary lumen morphology","HP:0033868"]
["Medullary peritubular capillary lumen cholesterol emboli","HP:0033869"]
["Medullary peritubular capillary intraluminal thrombi","HP:0033870"]
["Medullary peritubular capillary lumen organized thrombi","HP:0033871"]
["Cortical peritubular capillary lumen cholesterol emboli","HP:0033872"]
["Cortical peritubular capillary intraluminal thrombi","HP:0033873"]
["Cortical peritubular capillary lumen organized thrombi","HP:0033874"]
["Abnormal arcuate vein lumen morphology","HP:0033875"]
["Arcuate vein lumen cholesterol emboli","HP:0033876"]
["Arcuate vein intraluminal thrombi","HP:0033877"]
["Arcuate vein lumen organized thrombi","HP:0033878"]
["Abnormal arcuate vein intima/media morphology","HP:0033879"]
["Arcuate vein intimal mucoid edema","HP:0033880"]
["Arcuate vein intimal/medial myxomatous degeneration","HP:0033881"]
["Arcuate vein intima/medial amyloidosis","HP:0033882"]
["Abnormal cortical radial artery morphology","HP:0033883"]
["Abnormal cortical radial artery lumen morphology","HP:0033884"]
["Cortical radial artery lumen cholesterol emboli","HP:0033885"]
["Abnormal arcuate artery intima/media morphology","HP:0033886"]
["Cortical radial artery intimal/medial amyloidosis","HP:0033887"]
["Abnormal cortical radial artery intima/media morphology","HP:0033888"]
["Abnormal renal arteriole morphology","HP:0033889"]
["Abnormal renal arteriole lumen morphology","HP:0033890"]
["Renal arteriolar lumen cholesterol emboli","HP:0033891"]
["Abnormal renal arteriole intima/media morphology","HP:0033892"]
["Renal arteriolar lumen organized thrombi","HP:0033893"]
["Renal arteriolar intraluminal thrombi","HP:0033894"]
["Abnormal renal arteriole endothelium morphology","HP:0033895"]
["Abnormal arcuate artery lumen morphology","HP:0033896"]
["Arcuate artery lumen cholesterol emboli","HP:0033897"]
["Arcuate artery intraluminal thrombi","HP:0033898"]
["Arcuate artery lumen organized thrombi","HP:0033899"]
["Renal arteriole intima/media amyloidosis","HP:0033900"]
["Abnormal arcuate artery endothelium morphology","HP:0033901"]
["Arcuate artery endotheliosis","HP:0033902"]
["Arcuate artery endoarterial hypercellularity","HP:0033903"]
["Renal arteriole intima/media hyalinosis","HP:0033904"]
["Arcuate artery intima/media arteriosclerosis","HP:0033905"]
["Renal intimal/medial arteriolitis","HP:0033906"]
["Renal arteriole intima/media arteriolosclerosis","HP:0033907"]
["Renal arteriole medial atrophy","HP:0033908"]
["Arcuate vein medial hypertrophy","HP:0033909"]
["Arcuate vein medial atrophy","HP:0033910"]
["Cortical radial artery medial hypertrophy","HP:0033911"]
["Cortical radial artery medial atrophy","HP:0033912"]
["Cortical radial artery medial/intimal arteriitis","HP:0033913"]
["Arcuate artery intima/media amyloidosis","HP:0033914"]
["Arcuate artery intimal mucoid edema","HP:0033915"]
["Medial/intimal arcuate venosclerosis","HP:0033916"]
["Arcuate intimal/medial venulitis","HP:0033917"]
["Renal arteriole medial hypertrophy","HP:0033918"]
["Medial/intimal arcuate venulitis","HP:0033919"]
["Renal arteriole intima/media storage material accumulation","HP:0033920"]
["Renal arteriole endoarterial hypercellularity","HP:0033921"]
["Renal arteriole leukocytic endoarterial hypercellularity","HP:0033922"]
["Renal arteriole foam cell endoarterial hypercellularity","HP:0033923"]
["Renal arteriole neutrophil endoarterial hypercellularity","HP:0033924"]
["Renal arteriole lymphocyte endoarterial hypercellularity","HP:0033925"]
["Renal arteriole intimal/medial multilamellation","HP:0033926"]
["Arcuate artery endoarterial leukocyte hypercellularity","HP:0033927"]
["Arcuate artery endoarterial foam cell hypercellularity","HP:0033928"]
["Arcuate artery endoarterial neutrophil hypercellularity","HP:0033929"]
["Arcuate artery endoarterial lymphocyte hypercellularity","HP:0033930"]
["Arcuate artery intima/media necrosis","HP:0033931"]
["Arcuate artery intima/media coagulative necrosis","HP:0033932"]
["Arcuate artery intima/media liquefactive necrosis","HP:0033933"]
["Arcuate vein intimal/medial storage material accumulation","HP:0033934"]
["Cortical radial artery intima/media necrosis","HP:0033935"]
["Cortical radial artery intima/media liquefactive necrosis","HP:0033936"]
["Cortical radial artery intima/media coagulative necrosis","HP:0033937"]
["Renal arteriole intima/media necrosis","HP:0033938"]
["Renal arteriole intima/media liquefactive necrosis","HP:0033939"]
["Renal arteriole intima/media coagulative necrosis","HP:0033940"]
["Granulomatous arteriolitis of the arteriolar intima/media","HP:0033941"]
["Arcuate vein medial/intimal necrosis","HP:0033942"]
["Arcuate vein medial/intimal coagulative necrosis","HP:0033943"]
["Arcuate vein medial/intimal liquefactive necrosis","HP:0033944"]
["Arcuate intimal/medial granulomatous venulitis","HP:0033945"]
["Arcuate vein intima/media crystal accumulation","HP:0033946"]
["Renal arteriole intima/media crystal accumulation","HP:0033947"]
["Arcuate artery intima/media arteriitis","HP:0033948"]
["Arcuate artery intima/media granulomatous arteriitis","HP:0033949"]
["Cortical radial artery intraluminal thrombi","HP:0033950"]
["Cortical radial artery intraluminal organized thrombi","HP:0033951"]
["Abnormal cortical radial artery endothelium morphology","HP:0033952"]
["Cortical radial artery endotheliosis","HP:0033953"]
["Cortical radial artery hypercellularity","HP:0033954"]
["Cortical radial artery leukocyte hypercellularity","HP:0033955"]
["Cortical radial artery lymphocyte hypercellularity","HP:0033956"]
["Cortical radial artery neutrophil hypercellularity","HP:0033957"]
["Cortical radial artery foam cell hypercellularity","HP:0033958"]
["Cortical radial artery intima/media arteriosclerosis","HP:0033959"]
["Cortical radial artery intimal mucoid edema","HP:0033960"]
["Cortical radial artery intima/media multilamellation","HP:0033961"]
["Cortical radial artery medial/intimal granulomatous arteriitis","HP:0033962"]
["Abnormal interlobular vein intima/media morphology","HP:0033963"]
["Interlobular intima/media venosclerosis","HP:0033964"]
["Interlobular vein intimal mucoid edema","HP:0033965"]
["Interlobular vein intima/media amyloidosis","HP:0033966"]
["Interlobular vein intima/media venulitis","HP:0033967"]
["Interlobular vein intima/media granulomatous venulitis","HP:0033968"]
["Interlobular vein intima/media necrosis","HP:0033969"]
["Interlobular vein intima/media liquefactive necrosis","HP:0033970"]
["Interlobular vein intima/media coagulative necrosis","HP:0033971"]
["Interlobular vein medial atrophy","HP:0033972"]
["Interlobular vein medial hypertrophy","HP:0033973"]
["Interlobular vein intima/media multilamellation","HP:0033974"]
["Absent second fingernail","HP:0033975"]
["Volar fingernail","HP:0033976"]
["Talar aplasia","HP:0033977"]
["Reduced beta-hexosaminidase activity","HP:0033978"]
["Excessive dynamic airway collapse","HP:0033979"]
["Paroxysmal tonic upgaze","HP:0033980"]
["Vertebral artery tortuosity","HP:0033981"]
["Celiac artery dissection","HP:0033982"]
["Decreased circulating apolipoprotein C-II concentration","HP:0033983"]
["Increased urinary 8-oxo-7,8-dihydroguanosine level","HP:0033984"]
["Elongated femoral neck","HP:0033985"]
["Tortuous lymphatic vessels","HP:0033986"]
["Phosphaturic mesenchymal tumor","HP:0033987"]
["Abnormality of corneal shape","HP:0040004"]
["Mortality/Aging","HP:0040006"]
["Absent pigmentation of chest","HP:0040007"]
["Aplasia of facial bones","HP:0040008"]
["Hyperparakeratosis","HP:0040009"]
["Small posterior fossa","HP:0040010"]
["Flat posterior fossa","HP:0040011"]
["Chromosome breakage","HP:0040012"]
["Decreased mitochondrial number","HP:0040013"]
["Increased mitochondrial number","HP:0040014"]
["Increased activity of mitochondrial respiratory chain","HP:0040015"]
["Prominent coccyx","HP:0040016"]
["Protruding coccyx","HP:0040017"]
["Clinodactyly of hallux","HP:0040018"]
["Finger clinodactyly","HP:0040019"]
["Radial deviation of the 5th finger","HP:0040020"]
["Radial deviation of the thumb","HP:0040021"]
["Clinodactyly of the 2nd finger","HP:0040022"]
["Clinodactyly of the thumb","HP:0040023"]
["Clinodactyly of the 3rd finger","HP:0040024"]
["Clinodactyly of the 4th finger","HP:0040025"]
["Chorioretinal hypopigmentation","HP:0040030"]
["Chorioretinal hyperpigmentation","HP:0040031"]
["Hypoplasia of the upper eyelids","HP:0040032"]
["Aplasia/Hypoplasia of the fifth metatarsal bone","HP:0040033"]
["Abnormality of the second metatarsal bone","HP:0040034"]
["Abnormality of the fourth metatarsal bone","HP:0040035"]
["Onychogryposis of fingernail","HP:0040036"]
["obsolete Thin fingernail (obsolete)","HP:0040037"]
["obsolete Thin toenail","HP:0040038"]
["Onycholysis of fingernails","HP:0040039"]
["Toenail onycholysis","HP:0040040"]
["Aplasia of the eccrine sweat glands","HP:0040042"]
["Hypoplasia of the eccrine sweat glands","HP:0040043"]
["Hypoplasia of the diaphragm","HP:0040044"]
["Abnormal hemidiaphragm morphology","HP:0040045"]
["Abnormal left hemidiaphragm morphology","HP:0040046"]
["Abnormal right hemidiaphragm morphology","HP:0040047"]
["obsolete Aplasia of the left hemidiaphragm","HP:0040048"]
["Macular edema","HP:0040049"]
["Sparse upper eyelashes","HP:0040050"]
["Abnormality of upper eyelashes","HP:0040051"]
["Abnormality of lower eyelashes","HP:0040052"]
["Long lower eyelashes","HP:0040053"]
["Short upper eyelashes","HP:0040054"]
["Short lower eyelashes","HP:0040055"]
["Absent upper eyelashes","HP:0040056"]
["Abnormality of nasal hair","HP:0040057"]
["Calcification of ribs","HP:0040059"]
["Osteosclerosis of the radius","HP:0040061"]
["Slender radius","HP:0040062"]
["Decreased adipose tissue","HP:0040063"]
["Abnormality of limbs","HP:0040064"]
["obsolete Abnormal morphology of bones of the upper limbs","HP:0040065"]
["obsolete Abnormal morphology of bones of the lower limbs","HP:0040066"]
["Abnormality of limb bone","HP:0040068"]
["Abnormal lower limb bone morphology","HP:0040069"]
["Abnormal upper limb bone morphology","HP:0040070"]
["Abnormal morphology of ulna","HP:0040071"]
["Abnormality of forearm bone","HP:0040072"]
["Abnormal forearm bone morphology","HP:0040073"]
["Hypopituitarism","HP:0040075"]
["obsolete Abnormal concentration of calcium in blood","HP:0040077"]
["Axonal degeneration","HP:0040078"]
["Irregular dentition","HP:0040079"]
["Anteverted ears","HP:0040080"]
["Abnormal circulating creatine kinase concentration","HP:0040081"]
["Happy demeanor","HP:0040082"]
["Toe walking","HP:0040083"]
["Abnormal circulating renin","HP:0040084"]
["Abnormal circulating aldosterone","HP:0040085"]
["Abnormal prolactin level","HP:0040086"]
["Abnormal blood folate concentration","HP:0040087"]
["Abnormal lymphocyte count","HP:0040088"]
["Abnormal natural killer cell count","HP:0040089"]
["Abnormality of the tympanic membrane","HP:0040090"]
["Asymmetry of the size of ears","HP:0040091"]
["Asymmetry of the shape of the ears","HP:0040092"]
["Asymmetry of the position of the ears","HP:0040093"]
["Neoplasm of the outer ear","HP:0040095"]
["Neoplasm of the inner ear","HP:0040096"]
["Neoplasm of the ceruminal gland","HP:0040097"]
["Basalioma of the outer ear","HP:0040098"]
["Abnormality of the round window","HP:0040099"]
["Abnormality of the vestibular window","HP:0040100"]
["Cutaneous atresia of the external auditory canal","HP:0040101"]
["Osseous atresia of the external auditory canal","HP:0040102"]
["Cutaneous stenosis of the external auditory canal","HP:0040103"]
["Osseous stenosis of the external auditory canal","HP:0040104"]
["Morphological abnormality of the lateral semicircular canal","HP:0040106"]
["Morphological abnormality of the posterior semicircular canal","HP:0040107"]
["Morphological abnormality of the anterior semicircular canal","HP:0040108"]
["Morphological abnormality of the utricle","HP:0040109"]
["Morphological abnormality of the saccule","HP:0040110"]
["Bilateral external ear deformity","HP:0040111"]
["Abnormal number of tubercles","HP:0040112"]
["Old-aged sensorineural hearing impairment","HP:0040113"]
["Absence of the reflex of the tensor tympani muscle","HP:0040114"]
["Abnormality of the Eustachian tube","HP:0040115"]
["Aplasia of the Eustachian tube","HP:0040116"]
["Atresia of the Eustachian tube","HP:0040117"]
["Stenosis of the Eustachian tube","HP:0040118"]
["Unilateral conductive hearing impairment","HP:0040119"]
["Abnormality of the reflex of the tensor tympani muscle","HP:0040120"]
["Abnormality of the acoustic reflex","HP:0040121"]
["Impairment of the the acoustic reflex","HP:0040122"]
["Impairment of the reflex of the tensor tympani muscle","HP:0040123"]
["Patent tuba eustachii","HP:0040124"]
["Abnormal vitamin B12 level","HP:0040126"]
["Abnormal sweat homeostasis","HP:0040127"]
["Abnormal sweat electrolytes","HP:0040128"]
["Abnormal nerve conduction velocity","HP:0040129"]
["Abnormal serum iron concentration","HP:0040130"]
["Abnormal motor nerve conduction velocity","HP:0040131"]
["Abnormal sensory nerve conduction velocity","HP:0040132"]
["Abnormal circulating ferritin concentration","HP:0040133"]
["Abnormal hepatic iron concentration","HP:0040134"]
["Abnormal transferrin saturation","HP:0040135"]
["Comedonal acne","HP:0040137"]
["Mucinous histiocytosis","HP:0040138"]
["Lipogranulomatosis","HP:0040139"]
["Degeneration of the striatum","HP:0040140"]
["Tardive dyskinesia","HP:0040141"]
["Reduced 5-oxoprolinase level","HP:0040142"]
["Dystopic os odontoideum","HP:0040143"]
["L-2-hydroxyglutaric aciduria","HP:0040144"]
["Dicarboxylic acidemia","HP:0040145"]
["D-2-hydroxyglutaric acidemia","HP:0040146"]
["L-2-hydroxyglutaric acidemia","HP:0040147"]
["Cortical myoclonus","HP:0040148"]
["Woolly scalp hair","HP:0040149"]
["Epiblepharon of upper lid","HP:0040150"]
["Epiblepharon of lower lid","HP:0040151"]
["Acne inversa","HP:0040154"]
["Elevated urinary 3-hydroxybutyric acid","HP:0040155"]
["Elevated urinary carboxylic acid","HP:0040156"]
["Abnormal intermamillary distance","HP:0040157"]
["Short intermamillary distance","HP:0040158"]
["Abnormal spaced incisors","HP:0040159"]
["Generalized osteoporosis","HP:0040160"]
["Localized osteoporosis","HP:0040161"]
["Orthokeratosis","HP:0040162"]
["Abnormal pelvis bone morphology","HP:0040163"]
["Lipomas of eyelids","HP:0040164"]
["Periostitis","HP:0040165"]
["Abnormality of the periosteum","HP:0040166"]
["Facial papilloma","HP:0040167"]
["obsolete Focal seizures, afebril","HP:0040168"]
["Loose anagen hair","HP:0040169"]
["Abnormality of hair growth","HP:0040170"]
["Decreased serum testosterone concentration","HP:0040171"]
["Abnormality of occipitofrontalis muscle","HP:0040172"]
["Abnormality of the tongue muscle","HP:0040173"]
["Abnormality of extrinsic muscle of tongue","HP:0040174"]
["Platelet-activating factor acetylhydrolase deficiency","HP:0040175"]
["Abnormal circulating phospholipid concentration","HP:0040176"]
["Abnormal level of platelet-activating factor","HP:0040177"]
["Increased level of platelet-activating factor","HP:0040178"]
["Decreased level of platelet-activating factor","HP:0040179"]
["obsolete Hyperkeratosis pilaris","HP:0040180"]
["Chapped lip","HP:0040181"]
["Inappropriate sinus tachycardia","HP:0040182"]
["Encopresis","HP:0040183"]
["Oral bleeding","HP:0040184"]
["Macrothrombocytopenia","HP:0040185"]
["Maculopapular exanthema","HP:0040186"]
["Neonatal sepsis","HP:0040187"]
["Osteochondrosis","HP:0040188"]
["Scaling skin","HP:0040189"]
["White scaling skin","HP:0040190"]
["Rectus femoris muscle atrophy","HP:0040191"]
["APUdoma","HP:0040192"]
["obsolete Pinealoblastoma","HP:0040193"]
["Increased head circumference","HP:0040194"]
["Decreased head circumference","HP:0040195"]
["Mild microcephaly","HP:0040196"]
["Encephalomalacia","HP:0040197"]
["Non-medullary thyroid carcinoma","HP:0040198"]
["obsolete Flat midface","HP:0040199"]
["Motor impersistence","HP:0040200"]
["Simultanapraxia","HP:0040201"]
["Abnormal consumption behavior","HP:0040202"]
["Abnormal CSF neopterin level","HP:0040203"]
["Elevated CSF neopterin level","HP:0040204"]
["Decreased CSF neopterin level","HP:0040205"]
["Abnormal circulating neopterin concentration","HP:0040206"]
["Abnormal CSF biopterin level","HP:0040207"]
["Elevated CSF biopterin level","HP:0040208"]
["Decreased CSF biopterin level","HP:0040209"]
["Abnormal circulating biopterin concentration","HP:0040210"]
["Abnormal skin morphology of the palm","HP:0040211"]
["Risus sardonicus","HP:0040212"]
["Hypopnea","HP:0040213"]
["Abnormal insulin level","HP:0040214"]
["Abnormal circulating insulin level","HP:0040215"]
["Hypoinsulinemia","HP:0040216"]
["Elevated hemoglobin A1c","HP:0040217"]
["Reduced natural killer cell count","HP:0040218"]
["Absent natural killer cells","HP:0040219"]
["Abnormal size of the dental root","HP:0040220"]
["Hypoplasia of the dental root","HP:0040221"]
["Maternal thrombophilia","HP:0040222"]
["Pulmonary hemorrhage","HP:0040223"]
["Abnormality of fibrinolysis","HP:0040224"]
["Decrease in high molecular weight von Willebrand factor Multimers","HP:0040225"]
["Decreased level of heparin co-factor II","HP:0040226"]
["Decreased level of histidine-rich glycoprotein","HP:0040227"]
["Decreased level of plasminogen","HP:0040228"]
["Decreased level of thrombomodulin","HP:0040229"]
["Decreased level of tissue plasminogen activator","HP:0040230"]
["Abnormal onset of bleeding","HP:0040231"]
["Delayed onset bleeding","HP:0040232"]
["Factor XIII subunit A deficiency","HP:0040233"]
["Factor XIII subunit B deficiency","HP:0040234"]
["Leukocyte inclusion bodies","HP:0040235"]
["Hyperfibrinolysis","HP:0040236"]
["Impaired binding of factor VIII to VWF","HP:0040237"]
["Impaired neutrophil chemotaxis","HP:0040238"]
["Increased plasma vitamin K epoxide after vitamin K supplementation","HP:0040239"]
["Increased ratio of VWF propeptide to VWF antigen","HP:0040240"]
["Increased RIPA","HP:0040241"]
["Muscle hemorrhage","HP:0040242"]
["Prolonged euglobulin clot lysis time","HP:0040243"]
["Prolonged Russell's viper venom time","HP:0040244"]
["Reduced alpha-2-antiplasmin activity","HP:0040245"]
["Reduced antithrombin antigen","HP:0040246"]
["Reduced euglobulin clot lysis time","HP:0040247"]
["Reduced plasminogen activator inhibitor 1 activity","HP:0040248"]
["Reduced plasminogen activator inhibitor 1 antigen","HP:0040249"]
["Reduced prothrombin antigen","HP:0040250"]
["Hand dimple","HP:0040251"]
["Abnormal size of the clitoris","HP:0040252"]
["Increased size of the clitoris","HP:0040253"]
["Decreased size of the clitoris","HP:0040254"]
["Aplasia/Hypoplasia of the clitoris","HP:0040255"]
["Aplastic/Hypoplastic nasopharyngeal adenoids","HP:0040256"]
["Abnormal size of nasopharyngeal adenoids","HP:0040257"]
["Hypoplastic nasopharyngeal adenoids","HP:0040258"]
["Aplastic nasopharyngeal adenoids","HP:0040259"]
["Decreased size of nasopharyngeal adenoids","HP:0040260"]
["Increased size of nasopharyngeal adenoids","HP:0040261"]
["Glue ear","HP:0040262"]
["Jaw ankylosis","HP:0040263"]
["Jaw pain","HP:0040264"]
["Upper limb muscle hypertrophy","HP:0040265"]
["Proximal upper limb muscle hypertrophy","HP:0040266"]
["Distal upper limb muscle hypertrophy","HP:0040267"]
["Recurrent infections of the middle ear","HP:0040268"]
["Blocked Eustachian tube","HP:0040269"]
["Impaired glucose tolerance","HP:0040270"]
["Hyperintensity of MRI T2 signal of the spinal cord","HP:0040272"]
["Adenocarcinoma of the intestines","HP:0040273"]
["Adenocarcinoma of the small intestine","HP:0040274"]
["Adenocarcinoma of the large intestine","HP:0040275"]
["Adenocarcinoma of the colon","HP:0040276"]
["Neoplasm of the pituitary gland","HP:0040277"]
["Prolactinoma","HP:0040278"]
["Frequency","HP:0040279"]
["Obligate","HP:0040280"]
["Very frequent","HP:0040281"]
["Frequent","HP:0040282"]
["Occasional","HP:0040283"]
["Very rare","HP:0040284"]
["Excluded","HP:0040285"]
["Abnormal axial muscle morphology","HP:0040286"]
["Axial muscle atrophy","HP:0040287"]
["Nasogastric tube feeding","HP:0040288"]
["Cyclic neutropenia","HP:0040289"]
["obsolete Abnormality of skeletal muscles","HP:0040290"]
["Skeletal muscle steatosis","HP:0040291"]
["Left hemiplegia","HP:0040292"]
["Right hemiplegia","HP:0040293"]
["Duplicated tongue","HP:0040294"]
["Duplication of the upper lip","HP:0040295"]
["Abnormal location of the eyebrow","HP:0040296"]
["Preauricular cyst","HP:0040297"]
["Hyperplasia of the endometrium","HP:0040298"]
["Decreased circulating free fatty acid level","HP:0040299"]
["Abnormal circulating free fatty acid concentration","HP:0040300"]
["Increased urinary glycerol","HP:0040301"]
["Hyperglycerolemia","HP:0040302"]
["Decreased serum iron","HP:0040303"]
["Duplication of the sella turcica","HP:0040304"]
["Increased male libido","HP:0040305"]
["Decreased male libido","HP:0040306"]
["Male sexual dysfunction","HP:0040307"]
["Male anorgasmia","HP:0040308"]
["Increased size of the mandible","HP:0040309"]
["Sterile arthritis","HP:0040310"]
["Symmetric polyarthritis","HP:0040311"]
["Temporomandibular arthritis","HP:0040312"]
["Oligoarthritis","HP:0040313"]
["Blind vagina","HP:0040314"]
["Tongue edema","HP:0040315"]
["obsolete Aplasia of the penis","HP:0040316"]
["Blue urine","HP:0040317"]
["Red urine","HP:0040318"]
["Dark urine","HP:0040319"]
["Red-brown urine","HP:0040320"]
["Dark yellow urine","HP:0040321"]
["Purple urine","HP:0040322"]
["Erythema of the eyelids","HP:0040323"]
["Heliotrope rash","HP:0040324"]
["Bull's eye rash","HP:0040325"]
["Hypoplasia of the olfactory bulb","HP:0040326"]
["Abnormal morphology of the olfactory bulb","HP:0040327"]
["Focal hyperintensity of cerebral white matter on MRI","HP:0040328"]
["Multifocal hyperintensity of cerebral white matter on MRI","HP:0040329"]
["Confluent hyperintensity of cerebral white matter on MRI","HP:0040330"]
["Focal hypointensity of cerebral white matter on MRI","HP:0040331"]
["Multifocal hypointensity of cerebral white matter on MRI","HP:0040332"]
["Confluent hypointensity of cerebral white matter on MRI","HP:0040333"]
["Purulent rhinitis","HP:0040334"]
["Absent neutrophil lactoferrin","HP:0041042"]
["Neutrophil nuclear clefts","HP:0041043"]
["Low neutrophil alkaline phosphatase","HP:0041044"]
["Increased neutrophil mitochondria","HP:0041045"]
["Increased neutrophil ribosomes","HP:0041046"]
["Bladder outlet obstruction","HP:0041047"]
["Decreased expression of GPI-anchored proteins on the cell surface","HP:0041048"]
["Starch intolerance","HP:0041049"]
["Renal tubular cyst","HP:0041050"]
["Ageusia","HP:0041051"]
["Agenesis of putamen","HP:0041052"]
["Fractured head","HP:0041053"]
["obsolete Fractured thoracic segment of trunk","HP:0041054"]
["Fractured humerus","HP:0041055"]
["Hot cross bun sign","HP:0041056"]
["Transient decreased circulating IgG4","HP:0041057"]
["Chronic decreased circulating IgG4","HP:0041058"]
["Chronic (near) absent circulating IgG4","HP:0041059"]
["Chronic partially decreased circulating IgG4","HP:0041060"]
["Fractured calcaneus","HP:0041061"]
["Transient decreased circulating IgG2","HP:0041062"]
["Chronic decreased cirulating IgG2","HP:0041063"]
["Fractured knee","HP:0041064"]
["Chronic (near) absent circulating IgG2","HP:0041065"]
["Chronic partially decreased circulating IgG2","HP:0041066"]
["Transient decreased circulating IgG1","HP:0041067"]
["Chronic decreased circulating IgG1","HP:0041068"]
["Chronic (near) absent circulating IgG1","HP:0041069"]
["Chronic partially decreased circulating IgG1","HP:0041070"]
["Transient decreased circulating IgG3","HP:0041071"]
["Chronic decreased circulating IgG3","HP:0041072"]
["Fractured thoracic vertebra","HP:0041073"]
["Chronic (near) absent circulating IgG3","HP:0041074"]
["Chronic partially decreased circulating IgG3","HP:0041075"]
["Abnormal immunoglobulin level in body fluid","HP:0041076"]
["Increased immunoglobulin level in body fluid","HP:0041077"]
["Decreased immunoglobulin level in body fluid","HP:0041078"]
["Decreased body fat percentage","HP:0041079"]
["Abnormal proportion of exhausted T cells","HP:0041080"]
["Fractured lower leg","HP:0041081"]
["Fractured skull","HP:0041082"]
["Fractured phalanx","HP:0041083"]
["Compression-fractured thoracic vertebra","HP:0041084"]
["Compression-fractured vertebra","HP:0041085"]
["Compression-fractured cervical vertebra","HP:0041086"]
["Compression-fractured lumbar vertebra","HP:0041087"]
["Avulsion fractured humerus","HP:0041088"]
["Avulsion fractured tibia","HP:0041089"]
["obsolete Avulsion fractured pelvic region of trunk","HP:0041090"]
["Avulsion fractured epiphysis of femur","HP:0041091"]
["Emotional hypersensitivity","HP:0041092"]
["Beau's lines","HP:0041093"]
["Fractured metaphysis of femur","HP:0041114"]
["Fractured right clavicle","HP:0041115"]
["Fractured left clavicle","HP:0041116"]
["Fractured lower limb segment","HP:0041117"]
["Fractured upper limb segment","HP:0041118"]
["Fractured metacarpus skeleton","HP:0041119"]
["Fractured epiphysis of fifth metacarpal bone","HP:0041121"]
["Fractured tibia","HP:0041143"]
["Fractured clavicle bone","HP:0041144"]
["Fractured acetabular part of hip bone","HP:0041145"]
["Fractured coccyx","HP:0041146"]
["Fractured epiphysis","HP:0041147"]
["Fractured navicular bone of pes","HP:0041149"]
["Fractured cuboid bone","HP:0041150"]
["Fractured sternoclavicular joint","HP:0041152"]
["Fractured ankle","HP:0041153"]
["Fractured elbow joint","HP:0041154"]
["Fractured mandible","HP:0041155"]
["Fractured orbit of skull","HP:0041156"]
["Fractured larynx","HP:0041157"]
["obsolete Fractured trunk","HP:0041158"]
["Fractured rib","HP:0041159"]
["obsolete Fractured pelvic region of trunk","HP:0041161"]
["Fractured foot bone","HP:0041162"]
["Fractured manual digit","HP:0041163"]
["Fractured talus","HP:0041164"]
["Fractured maxilla","HP:0041165"]
["Fractured vertebra","HP:0041166"]
["Fractured cervical vertebra","HP:0041167"]
["Fractured lumbar vertebra","HP:0041168"]
["Fractured fused sacrum","HP:0041172"]
["Fractured metacarpophalangeal joint","HP:0041173"]
["Fractured distal phalanx of manus","HP:0041174"]
["Fractured middle phalanx of pes","HP:0041175"]
["Fractured distal phalanx of manual digit 2","HP:0041176"]
["Fractured distal phalanx of manual digit 3","HP:0041177"]
["Fractured distal phalanx of manual digit 4","HP:0041178"]
["Fractured distal phalanx of manual digit 5","HP:0041179"]
["Fractured distal phalanx of pedal digit 1","HP:0041180"]
["Fractured distal phalanx of pedal digit 3","HP:0041181"]
["Fractured middle phalanx of manual digit 2","HP:0041182"]
["Fractured middle phalanx of manual digit 3","HP:0041183"]
["Fractured middle phalanx of manual digit 4","HP:0041184"]
["Fractured middle phalanx of manual digit 5","HP:0041185"]
["Fractured middle phalanx of pedal digit 3","HP:0041186"]
["Fractured proximal phalanx of pedal digit 1","HP:0041187"]
["Fractured proximal phalanx of manual digit 1","HP:0041188"]
["Fractured epiphysis of femur","HP:0041189"]
["Fractured epiphysis of second metacarpal bone","HP:0041190"]
["Fractured epiphysis of third metacarpal bone","HP:0041191"]
["Fractured epiphysis of fourth metacarpal bone","HP:0041192"]
["Fractured epiphysis of first metatarsal bone","HP:0041193"]
["Fractured epiphysis of second metatarsal bone","HP:0041194"]
["Fractured epiphysis of third metatarsal bone","HP:0041195"]
["Fractured distal epiphysis of radius","HP:0041196"]
["Fractured proximal epiphysis of first metacarpal bone","HP:0041197"]
["Fractured proximal epiphysis of middle phalanx of manual digit 3","HP:0041198"]
["Fractured interphalangeal joint","HP:0041199"]
["Fractured sternal end of clavicle","HP:0041200"]
["Fractured epiphysis of middle phalanx of manus","HP:0041209"]
["Fractured lateral malleolus of fibula","HP:0041210"]
["Fractured proximal phalanx of digit 2","HP:0041211"]
["Fractured proximal phalanx of digit 3","HP:0041212"]
["Fractured proximal phalanx of digit 4","HP:0041213"]
["Fractured proximal phalanx of digit 5","HP:0041214"]
["Fractured fused metatarsal bones 2-4","HP:0041215"]
["Fractured distal epiphysis of distal phalanx of manual digit 1","HP:0041216"]
["Fractured shoulder","HP:0041217"]
["Fractured distal phalanx","HP:0041218"]
["Fractured elbow","HP:0041219"]
["Fractured facial bone","HP:0041220"]
["Fractured head of femur","HP:0041221"]
["Fractured fibula","HP:0041222"]
["Fractured metatarsal bone of digit 5","HP:0041223"]
["Fractured manual digit bone","HP:0041224"]
["Fractured metacarpal bone of digit 1","HP:0041225"]
["Fractured distal tarsal bone","HP:0041226"]
["Fractured distal tarsal bone 2","HP:0041227"]
["Fractured distal tarsal bone 3","HP:0041228"]
["Fractured metatarsal bone of digit 4","HP:0041230"]
["Fractured metatarsal bone of digit 1","HP:0041231"]
["Fractured skeleton of manual acropodium","HP:0041232"]
["Fractured ilium","HP:0041233"]
["Fractured bone of jaw","HP:0041234"]
["Fractured hindlimb bone","HP:0041235"]
["Fractured middle phalanx of manus","HP:0041236"]
["Fractured patella","HP:0041237"]
["Fractured manual digit 1 phalanx","HP:0041239"]
["Fractured phalanx of pes","HP:0041240"]
["Fractured phalanx of manus","HP:0041241"]
["Fractured proximal phalanx of manus","HP:0041243"]
["Fractured scapula","HP:0041244"]
["Fractured shoulder bone","HP:0041245"]
["Fractured sternum","HP:0041246"]
["Fractured tarsal bone","HP:0041247"]
["Fractured carpal bone","HP:0041248"]
["Fractured nose","HP:0041249"]
["Abnormal ossification of the trapezium","HP:0045001"]
["Absent ossification of the trapezium","HP:0045002"]
["Abnormal ossification of the scaphoid","HP:0045003"]
["Abnormal ossification of the trapezoid bone","HP:0045004"]
["Neural tube defect","HP:0045005"]
["Aplasia of lymphatic vessels","HP:0045006"]
["Abnormal substantia nigra morphology","HP:0045007"]
["Abnormal shape of the radius","HP:0045008"]
["Abnormal morphology of the radius","HP:0045009"]
["Abnormality of peripheral nerves","HP:0045010"]
["Decreased urine bicarbonate concentration","HP:0045011"]
["Decreased urinary catecholamine concentration","HP:0045012"]
["obsolete Decreased urinary glucose concentration","HP:0045013"]
["Hypolipidemia","HP:0045014"]
["obsolete Elevated serum long-chain fatty acids","HP:0045016"]
["Congenital malformation of the left heart","HP:0045017"]
["Partial duplication of eyebrows","HP:0045018"]
["Narrow palpebral fissure","HP:0045025"]
["Abnormality of the mediastinum","HP:0045026"]
["Abnormality of the thoracic cavity","HP:0045027"]
["Microlissencephaly","HP:0045028"]
["Eosinophilic fasciitis","HP:0045029"]
["Elevated urinary aminoisobutyric acid","HP:0045034"]
["Decreased urinary copper concentration","HP:0045035"]
["Abnormal urinary copper concentration","HP:0045036"]
["Abnormality of jaw muscles","HP:0045037"]
["Gastric lymphoma","HP:0045038"]
["Osteolysis involving bones of the upper limbs","HP:0045039"]
["Abnormal lactate dehydrogenase level","HP:0045040"]
["Reduced lactate dehydrogenase B level","HP:0045041"]
["Decreased serum complement C4","HP:0045042"]
["Decreased serum complement C4a","HP:0045043"]
["Decreased serum complement C4b","HP:0045044"]
["Elevated circulating acylcarnitine concentration","HP:0045045"]
["Reduced insulin like growth factor binding protein acid labile subunit level","HP:0045046"]
["HbS hemoglobin","HP:0045047"]
["Increased HbA2 hemoglobin","HP:0045048"]
["Abnormal DLCO","HP:0045049"]
["Increased DLCO","HP:0045050"]
["Decreased DLCO","HP:0045051"]
["Abnormality of the brachial nerve plexus","HP:0045052"]
["Abnormality of the lumbosacral nerve plexus","HP:0045053"]
["Brachial plexus neuropathy","HP:0045054"]
["Tiger tail banding","HP:0045055"]
["Abnormal levels of alpha-fetoprotein","HP:0045056"]
["Decreased levels of alpha-fetoprotein","HP:0045057"]
["Abnormality of the testis size","HP:0045058"]
["Hyperkeratotic papule","HP:0045059"]
["Aplasia/hypoplasia involving bones of the extremities","HP:0045060"]
["Decreased carnitine level in liver","HP:0045061"]
["Increased PIVKA-II","HP:0045063"]
["Serositis","HP:0045073"]
["Thin eyebrow","HP:0045074"]
["Sparse eyebrow","HP:0045075"]
["Distal femoral metaphyseal irregularity","HP:0045079"]
["Decreased proportion of CD3-positive T cells","HP:0045080"]
["Abnormality of body mass index","HP:0045081"]
["Decreased body mass index","HP:0045082"]
["obsolete Increased body mass index","HP:0045083"]
["Limb myoclonus","HP:0045084"]
["Atrophy of masseter muscle","HP:0045085"]
["Knee joint hypermobility","HP:0045086"]
["Hip joint hypermobility","HP:0045087"]
["Clinical relevance","HP:0045088"]
["Distinctive finding","HP:0045089"]
["Minor finding","HP:0045090"]
["Anorgasmia","HP:0046502"]
["Increased libido","HP:0046503"]
["Decreased libido","HP:0046504"]
["Hand pain","HP:0046505"]
["Pain in head and neck region","HP:0046506"]
["Bradypnea","HP:0046507"]
["Abnormal cervical spine morphology","HP:0046508"]
["Early onset of sexual maturation","HP:0100000"]
["Malignant mesothelioma","HP:0100001"]
["Pleural mesothelioma","HP:0100002"]
["Peritoneal mesothelioma","HP:0100003"]
["Pericardial mesothelioma","HP:0100004"]
["Testicular mesothelioma","HP:0100005"]
["Neoplasm of the central nervous system","HP:0100006"]
["Neoplasm of the peripheral nervous system","HP:0100007"]
["Schwannoma","HP:0100008"]
["Intracranial meningioma","HP:0100009"]
["Spinal meningioma","HP:0100010"]
["Scleral schwannoma","HP:0100011"]
["Neoplasm of the eye","HP:0100012"]
["Neoplasm of the breast","HP:0100013"]
["Epiretinal membrane","HP:0100014"]
["Stahl ear","HP:0100015"]
["Abnormality of mesentery morphology","HP:0100016"]
["Capsular cataract","HP:0100017"]
["Nuclear cataract","HP:0100018"]
["Cortical cataract","HP:0100019"]
["Posterior capsular cataract","HP:0100020"]
["Cerebral palsy","HP:0100021"]
["Abnormality of movement","HP:0100022"]
["Recurrent hand flapping","HP:0100023"]
["Conspicuously happy disposition","HP:0100024"]
["Overfriendliness","HP:0100025"]
["Arteriovenous malformation","HP:0100026"]
["Recurrent pancreatitis","HP:0100027"]
["Ectopic thyroid","HP:0100028"]
["Lingual thyroid","HP:0100029"]
["Accessory ectopic thyroid tissue","HP:0100030"]
["Neoplasm of the thyroid gland","HP:0100031"]
["Tics","HP:0100033"]
["Motor tics","HP:0100034"]
["Phonic tics","HP:0100035"]
["Pseudo-fractures","HP:0100036"]
["Abnormality of the scalp hair","HP:0100037"]
["Slow-growing scalp hair","HP:0100038"]
["Thickened cortex of bones","HP:0100039"]
["Broad 2nd toe","HP:0100040"]
["Broad 3rd toe","HP:0100041"]
["Broad 4th toe","HP:0100042"]
["Broad 5th toe","HP:0100043"]
["Absent epiphyses of the 2nd toe","HP:0100044"]
["Bracket epiphyses of the 2nd toe","HP:0100045"]
["Cone-shaped epiphyses of the 2nd toe","HP:0100046"]
["Enlarged epiphyses of the 2nd toe","HP:0100047"]
["Fragmentation of the epiphyses of the 2nd toe","HP:0100048"]
["Irregular epiphyses of the 2nd toe","HP:0100049"]
["Ivory epiphyses of the 2nd toe","HP:0100050"]
["Pseudoepiphyses of the 2nd toe","HP:0100051"]
["Small epiphyses of the 2nd toe","HP:0100052"]
["Stippling of the epiphyses of the 2nd toe","HP:0100053"]
["Triangular epiphyses of the 2nd toe","HP:0100054"]
["Absent epiphyses of the 3rd toe","HP:0100055"]
["Bracket epiphyses of the 3rd toe","HP:0100056"]
["Cone-shaped epiphyses of the 3rd toe","HP:0100057"]
["Enlarged epiphyses of the 3rd toe","HP:0100058"]
["Fragmentation of the epiphyses of the 3rd toe","HP:0100059"]
["Irregular epiphyses of the 3rd toe","HP:0100060"]
["Ivory epiphyses of the 3rd toe","HP:0100061"]
["Pseudoepiphyses of the 3rd toe","HP:0100062"]
["Small epiphyses of the 3rd toe","HP:0100063"]
["Stippling of the epiphyses of the 3rd toe","HP:0100064"]
["Triangular epiphyses of the 3rd toe","HP:0100065"]
["Absent epiphyses of the 4th toe","HP:0100066"]
["Bracket epiphyses of the 4th toe","HP:0100067"]
["Cone-shaped epiphyses of the 4th toe","HP:0100068"]
["Enlarged epiphyses of the 4th toe","HP:0100069"]
["Fragmentation of the epiphyses of the 4th toe","HP:0100070"]
["Irregular epiphyses of the 4th toe","HP:0100071"]
["Ivory epiphyses of the 4th toe","HP:0100072"]
["Pseudoepiphyses of the 4th toe","HP:0100073"]
["Small epiphyses of the 4th toe","HP:0100074"]
["Stippling of the epiphyses of the 4th toe","HP:0100075"]
["Triangular epiphyses of the 4th toe","HP:0100076"]
["Absent epiphyses of the 5th toe","HP:0100077"]
["Bracket epiphyses of the 5th toe","HP:0100078"]
["Cone-shaped epiphyses of the 5th toe","HP:0100079"]
["Enlarged epiphyses of the 5th toe","HP:0100080"]
["Fragmentation of the epiphyses of the 5th toe","HP:0100081"]
["Irregular epiphyses of the 5th toe","HP:0100082"]
["Ivory epiphyses of the 5th toe","HP:0100083"]
["Pseudoepiphyses of the 5th toe","HP:0100084"]
["Small epiphyses of the 5th toe","HP:0100085"]
["Stippling of the epiphyses of the 5th toe","HP:0100086"]
["Triangular epiphyses of the 5th toe","HP:0100087"]
["Abnormality of the epiphysis of the distal phalanx of the 2nd toe","HP:0100088"]
["Abnormality of the epiphysis of the middle phalanx of the 2nd toe","HP:0100089"]
["Abnormality of the epiphysis of the proximal phalanx of the 2nd toe","HP:0100090"]
["Abnormality of the epiphysis of the distal phalanx of the 3rd toe","HP:0100091"]
["Abnormality of the epiphysis of the middle phalanx of the 3rd toe","HP:0100092"]
["Abnormality of the epiphysis of the proximal phalanx of the 3rd toe","HP:0100093"]
["Abnormality of the epiphysis of the distal phalanx of the 4th toe","HP:0100094"]
["Abnormality of the epiphysis of the middle phalanx of the 4th toe","HP:0100095"]
["Abnormality of the epiphysis of the proximal phalanx of the 4th toe","HP:0100096"]
["Abnormality of the epiphysis of the distal phalanx of the 5th toe","HP:0100097"]
["Abnormality of the epiphysis of the middle phalanx of the 5th toe","HP:0100098"]
["Abnormality of the epiphysis of the proximal phalanx of the 5th toe","HP:0100099"]
["Absent epiphysis of the distal phalanx of the 2nd toe","HP:0100100"]
["Bracket epiphysis of the distal phalanx of the 2nd toe","HP:0100101"]
["Cone-shaped epiphysis of the distal phalanx of the 2nd toe","HP:0100102"]
["Enlarged epiphysis of the distal phalanx of the 2nd toe","HP:0100103"]
["Fragmentation of the epiphysis of the distal phalanx of the 2nd toe","HP:0100104"]
["Irregular epiphysis of the distal phalanx of the 2nd toe","HP:0100105"]
["Ivory epiphysis of the distal phalanx of the 2nd toe","HP:0100106"]
["Pseudoepiphysis of the distal phalanx of the 2nd toe","HP:0100107"]
["Small epiphysis of the distal phalanx of the 2nd toe","HP:0100108"]
["Stippling of the epiphysis of the distal phalanx of the 2nd toe","HP:0100109"]
["Triangular epiphysis of the distal phalanx of the 2nd toe","HP:0100110"]
["Absent epiphysis of the middle phalanx of the 2nd toe","HP:0100111"]
["Bracket epiphysis of the middle phalanx of the 2nd toe","HP:0100112"]
["Cone-shaped epiphysis of the middle phalanx of the 2nd toe","HP:0100113"]
["Enlarged epiphysis of the middle phalanx of the 2nd toe","HP:0100114"]
["Fragmentation of the epiphysis of the middle phalanx of the 2nd toe","HP:0100115"]
["Irregular epiphysis of the middle phalanx of the 2nd toe","HP:0100116"]
["Ivory epiphysis of the middle phalanx of the 2nd toe","HP:0100117"]
["Pseudoepiphysis of the middle phalanx of the 2nd toe","HP:0100118"]
["Small epiphysis of the middle phalanx of the 2nd toe","HP:0100119"]
["Stippling of the epiphysis of the middle phalanx of the 2nd toe","HP:0100120"]
["Triangular epiphysis of the middle phalanx of the 2nd toe","HP:0100121"]
["Absent epiphysis of the proximal phalanx of the 2nd toe","HP:0100122"]
["Bracket epiphysis of the proximal phalanx of the 2nd toe","HP:0100123"]
["Cone-shaped epiphysis of the proximal phalanx of the 2nd toe","HP:0100124"]
["Enlarged epiphysis of the proximal phalanx of the 2nd toe","HP:0100125"]
["Fragmentation of the epiphysis of the proximal phalanx of the 2nd toe","HP:0100126"]
["Irregular epiphysis of the proximal phalanx of the 2nd toe","HP:0100127"]
["Ivory epiphysis of the proximal phalanx of the 2nd toe","HP:0100128"]
["Pseudoepiphysis of the proximal phalanx of the 2nd toe","HP:0100129"]
["Small epiphysis of the proximal phalanx of the 2nd toe","HP:0100130"]
["Stippling of the epiphysis of the proximal phalanx of the 2nd toe","HP:0100131"]
["Triangular epiphysis of the proximal phalanx of the 2nd toe","HP:0100132"]
["Abnormality of the pubic hair","HP:0100133"]
["Abnormality of the axillary hair","HP:0100134"]
["Absent epiphysis of the distal phalanx of the 3rd toe","HP:0100135"]
["Bracket epiphysis of the distal phalanx of the 3rd toe","HP:0100136"]
["Cone-shaped epiphysis of the distal phalanx of the 3rd toe","HP:0100137"]
["Enlarged epiphysis of the distal phalanx of the 3rd toe","HP:0100138"]
["Fragmentation of the epiphysis of the distal phalanx of the 3rd toe","HP:0100139"]
["Irregular epiphysis of the distal phalanx of the 3rd toe","HP:0100140"]
["Ivory epiphysis of the distal phalanx of the 3rd toe","HP:0100141"]
["Pseudoepiphysis of the distal phalanx of the 3rd toe","HP:0100142"]
["Small epiphysis of the distal phalanx of the 3rd toe","HP:0100143"]
["Stippling of the epiphysis of the distal phalanx of the 3rd toe","HP:0100144"]
["Triangular epiphysis of the distal phalanx of the 3rd toe","HP:0100145"]
["Absent epiphysis of the middle phalanx of the 3rd toe","HP:0100146"]
["Bracket epiphysis of the middle phalanx of the 3rd toe","HP:0100147"]
["Cone-shaped epiphysis of the middle phalanx of the 3rd toe","HP:0100148"]
["Enlarged epiphysis of the middle phalanx of the 3rd toe","HP:0100149"]
["Fragmentation of the epiphysis of the middle phalanx of the 3rd toe","HP:0100150"]
["Irregular epiphysis of the middle phalanx of the 3rd toe","HP:0100151"]
["Ivory epiphysis of the middle phalanx of the 3rd toe","HP:0100152"]
["Pseudoepiphysis of the middle phalanx of the 3rd toe","HP:0100153"]
["Small epiphysis of the middle phalanx of the 3rd toe","HP:0100154"]
["Stippling of the epiphysis of the middle phalanx of the 3rd toe","HP:0100155"]
["Triangular epiphysis of the middle phalanx of the 3rd toe","HP:0100156"]
["Absent epiphysis of the proximal phalanx of the 3rd toe","HP:0100157"]
["Bracket epiphysis of the proximal phalanx of the 3rd toe","HP:0100158"]
["Cone-shaped epiphysis of the proximal phalanx of the 3rd toe","HP:0100159"]
["Enlarged epiphysis of the proximal phalanx of the 3rd toe","HP:0100160"]
["Fragmentation of the epiphysis of the proximal phalanx of the 3rd toe","HP:0100161"]
["Irregular epiphysis of the proximal phalanx of the 3rd toe","HP:0100162"]
["Ivory epiphysis of the proximal phalanx of the 3rd toe","HP:0100163"]
["Pseudoepiphysis of the proximal phalanx of the 3rd toe","HP:0100164"]
["Small epiphysis of the proximal phalanx of the 3rd toe","HP:0100165"]
["Stippling of the epiphysis of the proximal phalanx of the 3rd toe","HP:0100166"]
["Triangular epiphysis of the proximal phalanx of the 3rd toe","HP:0100167"]
["Fragmented epiphyses","HP:0100168"]
["Absent epiphysis of the distal phalanx of the 4th toe","HP:0100169"]
["Bracket epiphysis of the distal phalanx of the 4th toe","HP:0100170"]
["Cone-shaped epiphysis of the distal phalanx of the 4th toe","HP:0100171"]
["Enlarged epiphysis of the distal phalanx of the 4th toe","HP:0100172"]
["Fragmentation of the epiphysis of the distal phalanx of the 4th toe","HP:0100173"]
["Irregular epiphysis of the distal phalanx of the 4th toe","HP:0100174"]
["Ivory epiphysis of the distal phalanx of the 4th toe","HP:0100175"]
["Pseudoepiphysis of the distal phalanx of the 4th toe","HP:0100176"]
["Small epiphysis of the distal phalanx of the 4th toe","HP:0100177"]
["Stippling of the epiphysis of the distal phalanx of the 4th toe","HP:0100178"]
["Triangular epiphysis of the distal phalanx of the 4th toe","HP:0100179"]
["Absent epiphysis of the middle phalanx of the 4th toe","HP:0100180"]
["Bracket epiphysis of the middle phalanx of the 4th toe","HP:0100181"]
["Cone-shaped epiphysis of the middle phalanx of the 4th toe","HP:0100182"]
["Enlarged epiphysis of the middle phalanx of the 4th toe","HP:0100183"]
["Fragmentation of the epiphysis of the middle phalanx of the 4th toe","HP:0100184"]
["Irregular epiphysis of the middle phalanx of the 4th toe","HP:0100185"]
["Ivory epiphysis of the middle phalanx of the 4th toe","HP:0100186"]
["Pseudoepiphysis of the middle phalanx of the 4th toe","HP:0100187"]
["Small epiphysis of the middle phalanx of the 4th toe","HP:0100188"]
["Stippling of the epiphysis of the middle phalanx of the 4th toe","HP:0100189"]
["Triangular epiphysis of the middle phalanx of the 4th toe","HP:0100190"]
["Absent epiphysis of the proximal phalanx of the 4th toe","HP:0100191"]
["Bracket epiphysis of the proximal phalanx of the 4th toe","HP:0100192"]
["Cone-shaped epiphysis of the proximal phalanx of the 4th toe","HP:0100193"]
["Enlarged epiphysis of the proximal phalanx of the 4th toe","HP:0100194"]
["Fragmentation of the epiphysis of the proximal phalanx of the 4th toe","HP:0100195"]
["Irregular epiphysis of the proximal phalanx of the 4th toe","HP:0100196"]
["Ivory epiphysis of the proximal phalanx of the 4th toe","HP:0100197"]
["Pseudoepiphysis of the proximal phalanx of the 4th toe","HP:0100198"]
["Small epiphysis of the proximal phalanx of the 4th toe","HP:0100199"]
["Stippling of the epiphysis of the proximal phalanx of the 4th toe","HP:0100200"]
["Triangular epiphysis of the proximal phalanx of the 4th toe","HP:0100201"]
["Absent epiphysis of the distal phalanx of the 5th toe","HP:0100202"]
["Bracket epiphysis of the distal phalanx of the 5th toe","HP:0100203"]
["Cone-shaped epiphysis of the distal phalanx of the 5th toe","HP:0100204"]
["Enlarged epiphysis of the distal phalanx of the 5th toe","HP:0100205"]
["Fragmentation of the epiphysis of the distal phalanx of the 5th toe","HP:0100206"]
["Irregular epiphysis of the distal phalanx of the 5th toe","HP:0100207"]
["Ivory epiphysis of the distal phalanx of the 5th toe","HP:0100208"]
["Pseudoepiphysis of the distal phalanx of the 5th toe","HP:0100209"]
["Small epiphysis of the distal phalanx of the 5th toe","HP:0100210"]
["Stippling of the epiphysis of the distal phalanx of the 5th toe","HP:0100211"]
["Triangular epiphysis of the distal phalanx of the 5th toe","HP:0100212"]
["Absent epiphysis of the middle phalanx of the 5th toe","HP:0100213"]
["Bracket epiphysis of the middle phalanx of the 5th toe","HP:0100214"]
["Cone-shaped epiphysis of the middle phalanx of the 5th toe","HP:0100215"]
["Enlarged epiphysis of the middle phalanx of the 5th toe","HP:0100216"]
["Fragmentation of the epiphysis of the middle phalanx of the 5th toe","HP:0100217"]
["Irregular epiphysis of the middle phalanx of the 5th toe","HP:0100218"]
["Ivory epiphysis of the middle phalanx of the 5th toe","HP:0100219"]
["Pseudoepiphysis of the middle phalanx of the 5th toe","HP:0100220"]
["Small epiphysis of the middle phalanx of the 5th toe","HP:0100221"]
["Stippling of the epiphysis of the middle phalanx of the 5th toe","HP:0100222"]
["Triangular epiphysis of the middle phalanx of the 5th toe","HP:0100223"]
["Absent epiphysis of the proximal phalanx of the 5th toe","HP:0100224"]
["Bracket epiphysis of the proximal phalanx of the 5th toe","HP:0100225"]
["Cone-shaped epiphysis of the proximal phalanx of the 5th toe","HP:0100226"]
["Enlarged epiphysis of the proximal phalanx of the 5th toe","HP:0100227"]
["Fragmentation of the epiphysis of the proximal phalanx of the 5th toe","HP:0100228"]
["Irregular epiphysis of the proximal phalanx of the 5th toe","HP:0100229"]
["Ivory epiphysis of the proximal phalanx of the 5th toe","HP:0100230"]
["Pseudoepiphysis of the proximal phalanx of the 5th toe","HP:0100231"]
["Small epiphysis of the proximal phalanx of the 5th toe","HP:0100232"]
["Stippling of the epiphysis of the proximal phalanx of the 5th toe","HP:0100233"]
["Triangular epiphysis of the proximal phalanx of the 5th toe","HP:0100234"]
["Synostosis involving bones of the toes","HP:0100235"]
["Proximal foot symphalangism","HP:0100237"]
["Synostosis involving bones of the upper limbs","HP:0100238"]
["Synostosis of joints","HP:0100240"]
["Ectopic respiratory mucosa","HP:0100241"]
["Sarcoma","HP:0100242"]
["Leiomyosarcoma","HP:0100243"]
["Fibrosarcoma","HP:0100244"]
["Desmoid tumors","HP:0100245"]
["Osteoma","HP:0100246"]
["Recurrent singultus","HP:0100247"]
["Hemiballismus","HP:0100248"]
["Calcification of muscles","HP:0100249"]
["Meningeal calcification","HP:0100250"]
["Multiple central nervous system lipomas","HP:0100251"]
["Diaphyseal dysplasia","HP:0100252"]
["Abnormality of the medullary cavity of the long bones","HP:0100253"]
["Stenosis of the medullary cavity of the long bones","HP:0100254"]
["Metaphyseal dysplasia","HP:0100255"]
["Senile plaques","HP:0100256"]
["Ectrodactyly","HP:0100257"]
["Preaxial polydactyly","HP:0100258"]
["Postaxial polydactyly","HP:0100259"]
["Mesoaxial polydactyly","HP:0100260"]
["Abnormal tendon morphology","HP:0100261"]
["Synostosis involving digits","HP:0100262"]
["Distal symphalangism","HP:0100263"]
["Proximal symphalangism","HP:0100264"]
["Synostosis of metacarpals/metatarsals","HP:0100265"]
["Synostosis of carpals/tarsals","HP:0100266"]
["Lip pit","HP:0100267"]
["Upper lip pit","HP:0100268"]
["Paramedian lip pit","HP:0100269"]
["Abnormality of dorsoventral patterning of the limbs","HP:0100270"]
["Hyponasal speech","HP:0100271"]
["Branchial sinus","HP:0100272"]
["Neoplasm of the colon","HP:0100273"]
["Gustatory lacrimation","HP:0100274"]
["Diffuse cerebellar atrophy","HP:0100275"]
["Skin pit","HP:0100276"]
["Periauricular skin pits","HP:0100277"]
["Ulcerative colitis","HP:0100279"]
["Crohn's disease","HP:0100280"]
["Chronic colitis","HP:0100281"]
["Acute colitis","HP:0100282"]
["EMG: continuous motor unit activity at rest","HP:0100283"]
["EMG: myotonic discharges","HP:0100284"]
["EMG: impaired neuromuscular transmission","HP:0100285"]
["EMG: slow motor conduction","HP:0100287"]
["EMG: myokymic discharges","HP:0100288"]
["Abnormality of pattern reversal visual evoked potentials","HP:0100289"]
["Abnormality of peripheral somatosensory evoked potentials","HP:0100290"]
["Abnormality of central somatosensory evoked potentials","HP:0100291"]
["Amyloidosis of peripheral nerves","HP:0100292"]
["Muscle fiber hypertrophy","HP:0100293"]
["Muscle fiber atrophy","HP:0100295"]
["Perifascicular muscle fiber atrophy","HP:0100296"]
["Increased endomysial connective tissue","HP:0100297"]
["Motheaten muscle fibers","HP:0100298"]
["Muscle fiber inclusion bodies","HP:0100299"]
["Desmin bodies","HP:0100300"]
["Muscle fiber tubular inclusions","HP:0100301"]
["Muscle fiber tubuloreticular inclusions","HP:0100302"]
["Muscle fiber cytoplasmatic inclusion bodies","HP:0100303"]
["Muscle fiber intranuclear inclusion bodies","HP:0100304"]
["Ring fibers","HP:0100305"]
["Muscle fiber hyaline bodies","HP:0100306"]
["Cerebellar hemisphere hypoplasia","HP:0100307"]
["Cerebral cortical hemiatrophy","HP:0100308"]
["Subdural hemorrhage","HP:0100309"]
["Epidural hemorrhage","HP:0100310"]
["Cerebral ventricular adhesions","HP:0100311"]
["Cerebral germinoma","HP:0100312"]
["Cerebral granulomatosis","HP:0100313"]
["Cerebral inclusion bodies","HP:0100314"]
["Lewy bodies","HP:0100315"]
["Hirano bodies","HP:0100316"]
["Argyrophilic inclusion bodies","HP:0100317"]
["Lafora bodies","HP:0100318"]
["Cerebral hyaline bodies","HP:0100319"]
["Rosenthal fibers","HP:0100320"]
["Abnormal dentate nucleus morphology","HP:0100321"]
["Aplasia of the pyramidal tract","HP:0100322"]
["Juvenile aseptic necrosis","HP:0100323"]
["Scleroderma","HP:0100324"]
["Immunologic hypersensitivity","HP:0100326"]
["Cow milk allergy","HP:0100327"]
["Carpometacarpal synostosis","HP:0100328"]
["Tarsometatarsal synostosis","HP:0100329"]
["Unilateral cleft lip","HP:0100333"]
["Unilateral cleft palate","HP:0100334"]
["Non-midline cleft lip","HP:0100335"]
["Bilateral cleft lip","HP:0100336"]
["Bilateral cleft palate","HP:0100337"]
["Non-midline cleft palate","HP:0100338"]
["Abnormality of the os naviculare pedis","HP:0100339"]
["Fibular deviation of the 4th toe","HP:0100340"]
["Tibial deviation of the 4th toe","HP:0100341"]
["Fibular deviation of the 3rd toe","HP:0100342"]
["Tibial deviation of the 3rd toe","HP:0100343"]
["Fibular deviation of the 2nd toe","HP:0100344"]
["Tibial deviation of the 2nd toe","HP:0100345"]
["Fibular deviation of the 5th toe","HP:0100346"]
["Tibial deviation of the 5th toe","HP:0100347"]
["Contracture of the proximal interphalangeal joint of the 2nd toe","HP:0100348"]
["Contracture of the proximal interphalangeal joint of the 3rd toe","HP:0100349"]
["Contracture of the proximal interphalangeal joint of the 4th toe","HP:0100350"]
["Contractures of the proximal interphalangeal joint of the 5th toe","HP:0100351"]
["Contracture of the distal interphalangeal joint of the 2nd toe","HP:0100352"]
["Contracture of the distal interphalangeal joint of the 3rd toe","HP:0100353"]
["Contracture of the distal interphalangeal joint of the 4th toe","HP:0100354"]
["Contractures of the distal interphalangeal joint of the 5th toe","HP:0100355"]
["Contracture of the metatarsophalangeal joint of the 2nd toe","HP:0100356"]
["Contracture of the metatarsophalangeal joint of the 3rd toe","HP:0100357"]
["Contracture of the metatarsophalangeal joint of the 4th toe","HP:0100358"]
["Contracture of the metatarsophalangeal joint of the 5th toe","HP:0100359"]
["Contractures of the joints of the upper limbs","HP:0100360"]
["Aplasia of the phalanges of the 3rd toe","HP:0100362"]
["Aplasia of the phalanges of the 4th toe","HP:0100363"]
["Aplasia of the phalanges of the 5th toe","HP:0100364"]
["Short phalanx of the 3rd toe","HP:0100366"]
["Short phalanx of the 4th toe","HP:0100367"]
["Short phalanx of the 5th toe","HP:0100368"]
["Aplasia/Hypoplasia of the distal phalanx of the 3rd toe","HP:0100369"]
["Aplasia/Hypoplasia of the distal phalanx of the 4th toe","HP:0100370"]
["Aplasia/Hypoplasia of the distal phalanx of the 5th toe","HP:0100371"]
["Aplasia/Hypoplasia of the middle phalanx of the 3rd toe","HP:0100372"]
["Aplasia/Hypoplasia of the middle phalanx of the 4th toe","HP:0100373"]
["Aplasia/Hypoplasia of the middle phalanx of the 5th toe","HP:0100374"]
["Aplasia/hypoplasia of the proximal phalanx of the 3rd toe","HP:0100375"]
["Aplasia/hypoplasia of the proximal phalanx of the 4th toe","HP:0100376"]
["Aplasia/hypoplasia of the proximal phalanx of the 5th toe","HP:0100377"]
["Absent distal phalanx of the 3rd toe","HP:0100378"]
["Aplasia of the distal phalanx of the 4th toe","HP:0100379"]
["Aplasia of the distal phalanx of the 5th toe","HP:0100380"]
["Absent middle phalanx of the 3rd toe","HP:0100381"]
["Aplasia of the middle phalanx of the 4th toe","HP:0100382"]
["Aplasia of the middle phalanx of the 5th toe","HP:0100383"]
["Absent proximal phalanx of the 3rd toe","HP:0100384"]
["Aplasia of the proximal phalanx of the 4th toe","HP:0100385"]
["Aplasia of the proximal phalanx of the 5th toe","HP:0100386"]
["Aplasia of the middle phalanges of the toes","HP:0100387"]
["Aplasia of the proximal phalanges of the toes","HP:0100388"]
["Short distal phalanx of the 3rd toe","HP:0100389"]
["Short distal phalanx of the 4th toe","HP:0100390"]
["Short distal phalanx of the 5th toe","HP:0100391"]
["Short middle phalanx of the 3rd toe","HP:0100392"]
["Short middle phalanx of the 4th toe","HP:0100393"]
["Short middle phalanx of the 5th toe","HP:0100394"]
["Short proximal phalanx of the 3rd toe","HP:0100395"]
["Short proximal phalanx of the 4th toe","HP:0100396"]
["Short proximal phalanx of the 5th toe","HP:0100397"]
["Duplication of the distal phalanx of the 3rd toe","HP:0100398"]
["Duplication of the distal phalanx of the 4th toe","HP:0100399"]
["Duplication of the distal phalanx of the 5th toe","HP:0100400"]
["Duplication of the middle phalanx of the 3rd toe","HP:0100401"]
["Duplication of the middle phalanx of the 4th toe","HP:0100402"]
["Duplication of the middle phalanx of the 5th toe","HP:0100403"]
["Duplication of the proximal phalanx of the 3rd toe","HP:0100404"]
["Duplication of the proximal phalanx of the 4th toe","HP:0100405"]
["Duplication of the proximal phalanx of the 5th toe","HP:0100406"]
["Complete duplication of the distal phalanx of the 3rd toe","HP:0100407"]
["Complete duplication of the distal phalanx of the 4th toe","HP:0100408"]
["Complete duplication of the distal phalanx of the 5th toe","HP:0100409"]
["Complete duplication of the middle phalanx of the 3rd toe","HP:0100410"]
["Complete duplication of the middle phalanx of the 4th toe","HP:0100411"]
["Complete duplication of the middle phalanx of the 5th toe","HP:0100412"]
["Complete duplication of the proximal phalanx of the 3rd toe","HP:0100413"]
["Complete duplication of the proximal phalanx of the 4th toe","HP:0100414"]
["Complete duplication of the proximal phalanx of the 5th toe","HP:0100415"]
["Partial duplication of the distal phalanx of the 3rd toe","HP:0100416"]
["Partial duplication of the distal phalanx of the 4th toe","HP:0100417"]
["Partial duplication of the distal phalanx of the 5th toe","HP:0100418"]
["Partial duplication of the middle phalanx of the 3rd toe","HP:0100419"]
["Partial duplication of the middle phalanx of the 4th toe","HP:0100420"]
["Partial duplication of the middle phalanx of the 5th toe","HP:0100421"]
["Partial duplication of the proximal phalanx of the 3rd toe","HP:0100422"]
["Partial duplication of the proximal phalanx of the 4th toe","HP:0100423"]
["Partial duplication of the proximal phalanx of the 5th toe","HP:0100424"]
["Broad middle phalanx of the 3rd toe","HP:0100425"]
["Broad middle phalanx of the 4th toe","HP:0100426"]
["Broad middle phalanx of the 5th toe","HP:0100427"]
["Broad proximal phalanx of the 3rd toe","HP:0100428"]
["Broad proximal phalanx of the 4th toe","HP:0100429"]
["Broad proximal phalanx of the 5th toe","HP:0100430"]
["Broad distal phalanx of the 3rd toe","HP:0100431"]
["Broad distal phalanx of the 4th toe","HP:0100432"]
["Broad distal phalanx of the 5th toe","HP:0100433"]
["Bullet-shaped middle phalanx of the 3rd toe","HP:0100434"]
["Bullet-shaped middle phalanx of the 4th toe","HP:0100435"]
["Bullet-shaped middle phalanx of the 5th toe","HP:0100436"]
["Bullet-shaped proximal phalanx of the 3rd toe","HP:0100437"]
["Bullet-shaped proximal phalanx of the 4th toe","HP:0100438"]
["Bullet-shaped proximal phalanx of the 5th toe","HP:0100439"]
["Bullet-shaped distal phalanx of the 3rd toe","HP:0100440"]
["Bullet-shaped distal phalanx of the 4th toe","HP:0100441"]
["Bullet-shaped distal phalanx of the 5th toe","HP:0100442"]
["Curved middle phalanx of the 3rd toe","HP:0100443"]
["Curved middle phalanx of the 4th toe","HP:0100444"]
["Curved middle phalanx of the 5th toe","HP:0100445"]
["Curved proximal phalanx of the 3rd toe","HP:0100446"]
["Curved proximal phalanx of the 4th toe","HP:0100447"]
["Curved proximal phalanx of the 5th toe","HP:0100448"]
["Curved distal phalanx of the 3rd toe","HP:0100449"]
["Curved distal phalanx of the 4th toe","HP:0100450"]
["Curved distal phalanx of the 5th toe","HP:0100451"]
["Osteolytic defects of the middle phalanx of the 3rd toe","HP:0100452"]
["Osteolytic defects of the middle phalanx of the 4th toe","HP:0100453"]
["Osteolytic defects of the middle phalanx of the 5th toe","HP:0100454"]
["Osteolytic defects of the proximal phalanx of the 3rd toe","HP:0100455"]
["Osteolytic defects of the proximal phalanx of the 4th toe","HP:0100456"]
["Osteolytic defects of the proximal phalanx of the 5th toe","HP:0100457"]
["Osteolytic defects of the distal phalanx of the 3rd toe","HP:0100458"]
["Osteolytic defects of the distal phalanx of the 4th toe","HP:0100459"]
["Osteolytic defects of the distal phalanx of the 5th toe","HP:0100460"]
["Patchy sclerosis of the middle phalanx of the 3rd toe","HP:0100461"]
["Patchy sclerosis of the middle phalanx of the 4th toe","HP:0100462"]
["Patchy sclerosis of the middle phalanx of the 5th toe","HP:0100463"]
["Patchy sclerosis of the proximal phalanx of the 3rd toe","HP:0100464"]
["Patchy sclerosis of the proximal phalanx of the 4th toe","HP:0100465"]
["Patchy sclerosis of the proximal phalanx of the 5th toe","HP:0100466"]
["Patchy sclerosis of the distal phalanx of the 3rd toe","HP:0100467"]
["Patchy sclerosis of the distal phalanx of the 4th toe","HP:0100468"]
["Patchy sclerosis of the distal phalanx of the 5th toe","HP:0100469"]
["Symphalangism affecting the middle phalanx of the 3rd toe","HP:0100470"]
["Symphalangism affecting the middle phalanx of the 4th toe","HP:0100471"]
["Symphalangism affecting the middle phalanx of the 5th toe","HP:0100472"]
["Symphalangism affecting the proximal phalanx of the 3rd toe","HP:0100473"]
["Symphalangism affecting the proximal phalanx of the 4th toe","HP:0100474"]
["Symphalangism affecting the proximal phalanx of the 5th toe","HP:0100475"]
["Symphalangism affecting the distal phalanx of the 3rd toe","HP:0100476"]
["Symphalangism affecting the distal phalanx of the 4th toe","HP:0100477"]
["Symphalangism affecting the distal phalanx of the 5th toe","HP:0100478"]
["Proximal/middle symphalangism of 3rd toe","HP:0100480"]
["Proximal/middle symphalangism of 4th toe","HP:0100481"]
["Proximal/middle symphalangism of 5th toe","HP:0100482"]
["Symphalangism of the proximal phalanx of the 2nd toe with the 2nd metatarsal","HP:0100483"]
["Symphalangism of the proximal phalanx of the 3rd toe with the 3rd metatarsal","HP:0100484"]
["Symphalangism of the proximal phalanx of the 4th toe with the 4th metatarsal","HP:0100485"]
["Symphalangism of the proximal phalanx of the 5th toe with the 5th metatarsal","HP:0100486"]
["Triangular shaped distal phalanx of the 5th toe","HP:0100487"]
["Synostosis of the proximal phalanx of the hallux with the 1st metatarsal","HP:0100488"]
["Proximal/middle symphalangism of 2nd toe","HP:0100489"]
["Camptodactyly of finger","HP:0100490"]
["Abnormality of lower limb joint","HP:0100491"]
["Joint contractures involving the joints of the feet","HP:0100492"]
["Hypoammonemia","HP:0100493"]
["Abnormal mast cell morphology","HP:0100494"]
["Mastocytosis","HP:0100495"]
["Abnormality of the vitamin B3 metabolism","HP:0100496"]
["Vitamin B3 deficiency","HP:0100497"]
["Deviation of toes","HP:0100498"]
["Tibial deviation of toes","HP:0100499"]
["Fibular deviation of toes","HP:0100500"]
["Recurrent bronchiolitis","HP:0100501"]
["Vitamin B12 deficiency","HP:0100502"]
["Low levels of vitamin B1","HP:0100503"]
["Low levels of vitamin B2","HP:0100504"]
["Low levels of vitamin B5","HP:0100505"]
["Low levels of vitamin B8","HP:0100506"]
["Reduced blood folate concentration","HP:0100507"]
["Abnormality of vitamin metabolism","HP:0100508"]
["Abnormality of vitamin C metabolism","HP:0100509"]
["Low levels of vitamin C","HP:0100510"]
["Abnormality of vitamin D metabolism","HP:0100511"]
["Low levels of vitamin D","HP:0100512"]
["Low levels of vitamin E","HP:0100513"]
["Abnormality of vitamin E metabolism","HP:0100514"]
["Pollakisuria","HP:0100515"]
["Neoplasm of the ureter","HP:0100516"]
["Neoplasm of the urethra","HP:0100517"]
["Dysuria","HP:0100518"]
["Anuria","HP:0100519"]
["Oliguria","HP:0100520"]
["Neoplasm of the thymus","HP:0100521"]
["Thymoma","HP:0100522"]
["Liver abscess","HP:0100523"]
["Limb duplication","HP:0100524"]
["Urachus fistula","HP:0100525"]
["Neoplasm of the lung","HP:0100526"]
["Neoplasia of the pleura","HP:0100527"]
["Pleuropulmonary blastoma","HP:0100528"]
["Abnormal blood phosphate concentration","HP:0100529"]
["Abnormal calcium-phosphate regulating hormone level","HP:0100530"]
["Wind-swept deformity of the knees","HP:0100531"]
["Scleritis","HP:0100532"]
["Inflammatory abnormality of the eye","HP:0100533"]
["Episcleritis","HP:0100534"]
["Tibiofibular diastasis","HP:0100535"]
["Abnormality of the fascia","HP:0100536"]
["Fasciitis","HP:0100537"]
["Abnormality of the supraorbital ridges","HP:0100538"]
["Periorbital edema","HP:0100539"]
["Palpebral edema","HP:0100540"]
["Femoral hernia","HP:0100541"]
["Abnormal localization of kidney","HP:0100542"]
["Cognitive impairment","HP:0100543"]
["Neoplasm of the heart","HP:0100544"]
["Arterial stenosis","HP:0100545"]
["Carotid artery stenosis","HP:0100546"]
["Abnormality of forebrain morphology","HP:0100547"]
["Exstrophy","HP:0100548"]
["Tendon rupture","HP:0100550"]
["Neoplasm of the trachea","HP:0100551"]
["Neoplasm of the tracheobronchial system","HP:0100552"]
["Hemihypertrophy of lower limb","HP:0100553"]
["Hemihypertrophy of upper limb","HP:0100554"]
["Asymmetric growth","HP:0100555"]
["Hemiatrophy","HP:0100556"]
["Hemiatrophy of lower limb","HP:0100557"]
["Hemiatrophy of upper limb","HP:0100558"]
["Lower limb asymmetry","HP:0100559"]
["Upper limb asymmetry","HP:0100560"]
["Spinal cord lesion","HP:0100561"]
["Diplomyelia","HP:0100562"]
["Diastomatomyelia","HP:0100563"]
["Triplomyelia","HP:0100564"]
["Hydromyelia","HP:0100565"]
["Amyelia","HP:0100566"]
["Neoplasm of the endocrine system","HP:0100568"]
["Abnormally ossified vertebrae","HP:0100569"]
["Carcinoid tumor","HP:0100570"]
["Cardiac diverticulum","HP:0100571"]
["Fibrous cardiac diverticulum","HP:0100572"]
["Muscular cardiac diverticulum","HP:0100573"]
["Biliary tract neoplasm","HP:0100574"]
["Neoplasm of the gallbladder","HP:0100575"]
["Amaurosis fugax","HP:0100576"]
["Urinary bladder inflammation","HP:0100577"]
["Lipoatrophy","HP:0100578"]
["Mucosal telangiectasiae","HP:0100579"]
["Barrett esophagus","HP:0100580"]
["Dilatation of renal calices","HP:0100581"]
["Nasal polyposis","HP:0100582"]
["Corneal perforation","HP:0100583"]
["Endocarditis","HP:0100584"]
["Telangiectasia of the skin","HP:0100585"]
["Sterile pyuria","HP:0100586"]
["Abnormal preputium morphology","HP:0100587"]
["Paraphimosis","HP:0100588"]
["Urogenital fistula","HP:0100589"]
["Rectal fistula","HP:0100590"]
["Peritoneal abscess","HP:0100592"]
["Calcification of cartilage","HP:0100593"]
["Esophageal web","HP:0100594"]
["Camptocormia","HP:0100595"]
["Absent nares","HP:0100596"]
["Pulmonary edema","HP:0100598"]
["Bifid penis","HP:0100599"]
["Penoscrotal transposition","HP:0100600"]
["Eclampsia","HP:0100601"]
["Preeclampsia","HP:0100602"]
["Toxemia of pregnancy","HP:0100603"]
["Neoplasm of the lip","HP:0100604"]
["Neoplasm of the larynx","HP:0100605"]
["Neoplasm of the respiratory system","HP:0100606"]
["Dysmenorrhea","HP:0100607"]
["Metrorrhagia","HP:0100608"]
["obsolete Hypermenorrhea","HP:0100609"]
["Maternal hyperphenylalaninemia","HP:0100610"]
["Multiple glomerular cysts","HP:0100611"]
["Odontogenic neoplasm","HP:0100612"]
["Death in early adulthood","HP:0100613"]
["Myositis","HP:0100614"]
["Ovarian neoplasm","HP:0100615"]
["Testicular teratoma","HP:0100616"]
["Testicular seminoma","HP:0100617"]
["Leydig cell neoplasia","HP:0100618"]
["Sertoli cell neoplasm","HP:0100619"]
["Germinoma","HP:0100620"]
["Dysgerminoma","HP:0100621"]
["Maternal seizure","HP:0100622"]
["Abnormality of corpus cavernosum","HP:0100623"]
["Corpus cavernosum sclerosis","HP:0100624"]
["Enlarged thorax","HP:0100625"]
["Chronic hepatic failure","HP:0100626"]
["Displacement of the urethral meatus","HP:0100627"]
["Esophageal diverticulum","HP:0100628"]
["Midline facial cleft","HP:0100629"]
["Neoplasia of the nasopharynx","HP:0100630"]
["Neoplasm of the adrenal gland","HP:0100631"]
["Pulmonary sequestration","HP:0100632"]
["Esophagitis","HP:0100633"]
["Neuroendocrine neoplasm","HP:0100634"]
["Carotid paraganglioma","HP:0100635"]
["Pulmonary paraglioma","HP:0100636"]
["obsolete Neoplasia of the nose","HP:0100637"]
["Neoplasm of the pharynx","HP:0100638"]
["Erectile dysfunction","HP:0100639"]
["Laryngeal cyst","HP:0100640"]
["Neoplasm of the adrenal cortex","HP:0100641"]
["Neoplasm of the adrenal medulla","HP:0100642"]
["Abnormality of nail color","HP:0100643"]
["Melanonychia","HP:0100644"]
["Cystocele","HP:0100645"]
["Thyroiditis","HP:0100646"]
["Graves disease","HP:0100647"]
["Neoplasm of the tongue","HP:0100648"]
["Neoplasm of the oral cavity","HP:0100649"]
["Vaginal neoplasm","HP:0100650"]
["Type I diabetes mellitus","HP:0100651"]
["Optic neuritis","HP:0100653"]
["Retrobulbar optic neuritis","HP:0100654"]
["Thoracoabdominal wall defect","HP:0100656"]
["Thoracoabdominal eventration","HP:0100657"]
["Cellulitis","HP:0100658"]
["Abnormal cerebral vascular morphology","HP:0100659"]
["Dyskinesia","HP:0100660"]
["Trigeminal neuralgia","HP:0100661"]
["Chondritis","HP:0100662"]
["Synotia","HP:0100663"]
["Angioedema","HP:0100665"]
["Intestinal duplication","HP:0100668"]
["Abnormal pigmentation of the oral mucosa","HP:0100669"]
["Coarse metaphyseal trabecularization","HP:0100670"]
["Abnormal trabecular bone morphology","HP:0100671"]
["Vaginal hernia","HP:0100672"]
["Vaginal hydrocele","HP:0100673"]
["Vaginal hematocele","HP:0100674"]
["Vaginal pyocele","HP:0100675"]
["Vaginal lymphocele","HP:0100676"]
["Vulval varicose vein","HP:0100677"]
["Premature skin wrinkling","HP:0100678"]
["Lack of skin elasticity","HP:0100679"]
["Esophageal duplication","HP:0100681"]
["Tracheal atresia","HP:0100682"]
["Salivary gland neoplasm","HP:0100684"]
["Abnormal Sharpey fiber morphology","HP:0100685"]
["Enthesitis","HP:0100686"]
["Polyotia","HP:0100687"]
["Decreased corneal thickness","HP:0100689"]
["Mosaic central corneal dystrophy","HP:0100690"]
["Abnormality of the curvature of the cornea","HP:0100691"]
["Increased corneal curvature","HP:0100692"]
["Iridodonesis","HP:0100693"]
["Tibial torsion","HP:0100694"]
["Lipedema","HP:0100695"]
["Neurofibrosarcoma","HP:0100697"]
["Subcutaneous neurofibromas","HP:0100698"]
["Scarring","HP:0100699"]
["Abnormal arachnoid mater morphology","HP:0100700"]
["Abnormal pia mater","HP:0100701"]
["Arachnoid cyst","HP:0100702"]
["Tongue thrusting","HP:0100703"]
["Cerebral visual impairment","HP:0100704"]
["Abnormal glial cell morphology","HP:0100705"]
["Abnormal oligodendroglia morphology","HP:0100706"]
["Abnormal astrocyte morphology","HP:0100707"]
["Abnormal microglia morphology","HP:0100708"]
["Reduction of oligodendroglia","HP:0100709"]
["Impulsivity","HP:0100710"]
["Abnormal thoracic spine morphology","HP:0100711"]
["Abnormal lumbar spine morphology","HP:0100712"]
["Self-injurious behavior","HP:0100716"]
["Abnormal cementum morphology","HP:0100717"]
["Uterine rupture","HP:0100718"]
["Lens coloboma","HP:0100719"]
["Hypoplasia of the ear cartilage","HP:0100720"]
["Mediastinal lymphadenopathy","HP:0100721"]
["Gastrointestinal stroma tumor","HP:0100723"]
["Hypercoagulability","HP:0100724"]
["Lichenification","HP:0100725"]
["Kaposi's sarcoma","HP:0100726"]
["Histiocytosis","HP:0100727"]
["Germ cell neoplasia","HP:0100728"]
["Large face","HP:0100729"]
["Bronchogenic cyst","HP:0100730"]
["Transverse facial cleft","HP:0100731"]
["Pancreatic fibrosis","HP:0100732"]
["Neoplasm of the parathyroid gland","HP:0100733"]
["Abnormality of vertebral epiphysis morphology","HP:0100734"]
["Hypertensive crisis","HP:0100735"]
["Abnormal soft palate morphology","HP:0100736"]
["Abnormal hard palate morphology","HP:0100737"]
["Abnormal eating behavior","HP:0100738"]
["Bulimia","HP:0100739"]
["Vascular neoplasm","HP:0100742"]
["Neoplasm of the rectum","HP:0100743"]
["Abnormality of the humeroradial joint","HP:0100744"]
["Abnormality of the humeroulnar joint","HP:0100745"]
["Macrodactyly of finger","HP:0100746"]
["Macrodactyly of toe","HP:0100747"]
["Muscular edema","HP:0100748"]
["Chest pain","HP:0100749"]
["Atelectasis","HP:0100750"]
["Esophageal neoplasm","HP:0100751"]
["Abnormal liver lobulation","HP:0100752"]
["Schizophrenia","HP:0100753"]
["Mania","HP:0100754"]
["Abnormality of salivation","HP:0100755"]
["Pancreatoblastoma","HP:0100757"]
["Gangrene","HP:0100758"]
["Clubbing of fingers","HP:0100759"]
["Clubbing of toes","HP:0100760"]
["Visceral angiomatosis","HP:0100761"]
["Hemobilia","HP:0100762"]
["Abnormality of the lymphatic system","HP:0100763"]
["Lymphangioma","HP:0100764"]
["Abnormality of the tonsils","HP:0100765"]
["Abnormal lymphatic vessel morphology","HP:0100766"]
["Abnormal placenta morphology","HP:0100767"]
["Choriocarcinoma","HP:0100768"]
["Synovitis","HP:0100769"]
["Hyperperistalsis","HP:0100770"]
["Hypoperistalsis","HP:0100771"]
["Cartilage destruction","HP:0100773"]
["Hyperostosis","HP:0100774"]
["Dural ectasia","HP:0100775"]
["Recurrent pharyngitis","HP:0100776"]
["Exostoses","HP:0100777"]
["Cryoglobulinemia","HP:0100778"]
["Urogenital sinus anomaly","HP:0100779"]
["Conjunctival hamartoma","HP:0100780"]
["Abnormal sacroiliac joint morphology","HP:0100781"]
["Breast aplasia","HP:0100783"]
["Peripheral arteriovenous fistula","HP:0100784"]
["Insomnia","HP:0100785"]
["Hypersomnia","HP:0100786"]
["Prostate neoplasm","HP:0100787"]
["Fused lips","HP:0100788"]
["Torus palatinus","HP:0100789"]
["Hernia","HP:0100790"]
["Acantholysis","HP:0100792"]
["Abnormally straight spine","HP:0100795"]
["Orchitis","HP:0100796"]
["Toenail dysplasia","HP:0100797"]
["Fingernail dysplasia","HP:0100798"]
["Neoplasm of the middle ear","HP:0100799"]
["Aplasia/Hypoplasia of the pancreas","HP:0100800"]
["Pancreatic aplasia","HP:0100801"]
["Malposition of the stomach","HP:0100802"]
["Abnormality of the periungual region","HP:0100803"]
["Ungual fibroma","HP:0100804"]
["obsolete Precocious menopause","HP:0100805"]
["Sepsis","HP:0100806"]
["Long fingers","HP:0100807"]
["Gastric diverticulum","HP:0100808"]
["Scalp tenderness","HP:0100809"]
["Pointed helix","HP:0100810"]
["Aplasia/Hypoplasia of the colon","HP:0100811"]
["Halitosis","HP:0100812"]
["Testicular torsion","HP:0100813"]
["Blue nevus","HP:0100814"]
["Lip hyperpigmentation","HP:0100816"]
["Renovascular hypertension","HP:0100817"]
["Long thorax","HP:0100818"]
["Intestinal fistula","HP:0100819"]
["Glomerulopathy","HP:0100820"]
["Urethrocele","HP:0100821"]
["Rectocele","HP:0100822"]
["Genital hernia","HP:0100823"]
["Cheilitis","HP:0100825"]
["Neoplasm of the nail","HP:0100826"]
["Lymphocytosis","HP:0100827"]
["Increased T cell count","HP:0100828"]
["Galactorrhea","HP:0100829"]
["Round ear","HP:0100830"]
["Abnormality of vitamin K metabolism","HP:0100831"]
["Vitreous floaters","HP:0100832"]
["Neoplasm of the small intestine","HP:0100833"]
["Neoplasm of the large intestine","HP:0100834"]
["Benign neoplasm of the central nervous system","HP:0100835"]
["Malignant neoplasm of the central nervous system","HP:0100836"]
["Atrophodermia vermiculata","HP:0100837"]
["Recurrent cutaneous abscess formation","HP:0100838"]
["Hepatic agenesis","HP:0100839"]
["Aplasia/Hypoplasia of the eyebrow","HP:0100840"]
["Microgastria","HP:0100841"]
["Septo-optic dysplasia","HP:0100842"]
["obsolete Glioblastoma","HP:0100843"]
["Pancreatic fistula","HP:0100844"]
["Anaphylactic shock","HP:0100845"]
["Palmoplantar pustulosis","HP:0100847"]
["Neoplasm of the male external genitalia","HP:0100848"]
["Neoplasm of the scrotum","HP:0100849"]
["Neoplasm of the penis","HP:0100850"]
["Abnormal emotion/affect behavior","HP:0100851"]
["Abnormal fear/anxiety-related behavior","HP:0100852"]
["Hypoplastic areola","HP:0100853"]
["Aplasia of the musculature","HP:0100854"]
["Triceps hypoplasia","HP:0100855"]
["Poorly ossified vertebrae","HP:0100856"]
["Flat sella turcica","HP:0100857"]
["Dilatation of celiac artery","HP:0100858"]
["Dilatation of superior mesenteric artery","HP:0100859"]
["Dilatation of Inferior mesenteric artery","HP:0100860"]
["Sclerotic vertebral body","HP:0100861"]
["Aplasia of the femoral head","HP:0100862"]
["Aplasia of the femoral neck","HP:0100863"]
["Short femoral neck","HP:0100864"]
["Broad ischia","HP:0100865"]
["Short iliac bones","HP:0100866"]
["Duodenal stenosis","HP:0100867"]
["Palmar telangiectasia","HP:0100869"]
["Plantar telangiectasia","HP:0100870"]
["Abnormality of the palm","HP:0100871"]
["Abnormality of the plantar skin of foot","HP:0100872"]
["Thick hair","HP:0100874"]
["Hemimacroglossia","HP:0100875"]
["Infra-orbital crease","HP:0100876"]
["Renal diverticulum","HP:0100877"]
["Enlarged uterus","HP:0100878"]
["Enlarged ovaries","HP:0100879"]
["Nephrogenic rest","HP:0100880"]
["Congenital mesoblastic nephroma","HP:0100881"]
["Fibrous hamartoma","HP:0100882"]
["Chorangioma","HP:0100883"]
["Compensatory scoliosis","HP:0100884"]
["Lateral venous anomaly","HP:0100885"]
["Abnormality of globe location","HP:0100886"]
["Abnormality of globe size","HP:0100887"]
["Interdigital loops","HP:0100888"]
["Abnormality of the ductus choledochus","HP:0100889"]
["Cyst of the ductus choledochus","HP:0100890"]
["Bifid xiphoid process","HP:0100891"]
["Abnormality of the xiphoid process","HP:0100892"]
["Prominent xiphoid process","HP:0100893"]
["Broad xiphoid process","HP:0100894"]
["Rectal polyposis","HP:0100896"]
["Connective tissue nevi","HP:0100898"]
["Sclerosis of finger phalanx","HP:0100899"]
["Sclerosis of the distal phalanx of the 2nd finger","HP:0100900"]
["Sclerosis of the distal phalanx of the 3rd finger","HP:0100901"]
["Sclerosis of the distal phalanx of the 4th finger","HP:0100902"]
["Sclerosis of the distal phalanx of the 5th finger","HP:0100903"]
["Sclerosis of the middle phalanx of the 2nd finger","HP:0100904"]
["Sclerosis of the middle phalanx of the 3rd finger","HP:0100905"]
["Sclerosis of the middle phalanx of the 4th finger","HP:0100906"]
["Sclerosis of the middle phalanx of the 5th finger","HP:0100907"]
["Sclerosis of the proximal phalanx of the 2nd finger","HP:0100908"]
["Sclerosis of the proximal phalanx of the 3rd finger","HP:0100909"]
["Sclerosis of the proximal phalanx of the 4th finger","HP:0100910"]
["Sclerosis of the proximal phalanx of the 5th finger","HP:0100911"]
["Sclerosis of the distal phalanx of the thumb","HP:0100912"]
["Sclerosis of the proximal phalanx of the thumb","HP:0100913"]
["Sclerosis of the 1st metacarpal","HP:0100914"]
["Sclerosis of distal finger phalanx","HP:0100915"]
["Sclerosis of middle finger phalanx","HP:0100916"]
["Sclerosis of proximal finger phalanx","HP:0100917"]
["Sclerosis of 2nd finger phalanx","HP:0100918"]
["Sclerosis of 3rd finger phalanx","HP:0100919"]
["Sclerosis of 4th finger phalanx","HP:0100920"]
["Sclerosis of 5th finger phalanx","HP:0100921"]
["Sclerosis of thumb phalanx","HP:0100922"]
["Clavicular sclerosis","HP:0100923"]
["Sclerosis of toe phalanx","HP:0100924"]
["Sclerosis of foot bone","HP:0100925"]
["Sclerosis of 2nd toe phalanx","HP:0100926"]
["Sclerosis of 3rd toe phalanx","HP:0100927"]
["Sclerosis of 4th toe phalanx","HP:0100928"]
["Sclerosis of 5th toe phalanx","HP:0100929"]
["Sclerosis of hallux phalanx","HP:0100930"]
["Sclerosis of the proximal phalanx of the 2nd toe","HP:0100931"]
["Sclerosis of the proximal phalanx of the 3rd toe","HP:0100932"]
["Sclerosis of the proximal phalanx of the 4th toe","HP:0100933"]
["Sclerosis of the proximal phalanx of the 5th toe","HP:0100934"]
["Sclerosis of the middle phalanx of the 2nd toe","HP:0100935"]
["Sclerosis of the middle phalanx of the 3rd toe","HP:0100936"]
["Sclerosis of the middle phalanx of the 4th toe","HP:0100937"]
["Sclerosis of the middle phalanx of the 5th toe","HP:0100938"]
["Sclerosis of the distal phalanx of the 2nd toe","HP:0100939"]
["Sclerosis of the distal phalanx of the 3rd toe","HP:0100940"]
["Sclerosis of the distal phalanx of the 4th toe","HP:0100941"]
["Sclerosis of the distal phalanx of the 5th toe","HP:0100942"]
["Sclerosis of the proximal phalanx of the hallux","HP:0100943"]
["Sclerosis of the distal phalanx of the hallux","HP:0100944"]
["Sclerosis of the 1st metatarsal","HP:0100945"]
["Sclerosis of proximal toe phalanx","HP:0100946"]
["Sclerosis of middle toe phalanx","HP:0100947"]
["Sclerosis of distal toe phalanx","HP:0100948"]
["Decreased 3-hydroxyacyl-CoA dehydrogenase level","HP:0100950"]
["Enlarged fossa interpeduncularis","HP:0100951"]
["Enlarged sylvian cistern","HP:0100952"]
["Enlarged interhemispheric fissure","HP:0100953"]
["Open operculum","HP:0100954"]
["Giant cell granuloma of mandible","HP:0100955"]
["Abnormal renal medulla morphology","HP:0100957"]
["Narrow foramen obturatorium","HP:0100958"]
["Dense metaphyseal bands","HP:0100959"]
["Asymmetric ventricles","HP:0100960"]
["Enlarged hippocampus","HP:0100961"]
["Shyness","HP:0100962"]
["Hyperesthesia","HP:0100963"]
["Dysharmonic bone age","HP:0200000"]
["Dysharmonic accelerated bone age","HP:0200001"]
["Splayed epiphyses","HP:0200003"]
["Abnormal shape of the palpebral fissure","HP:0200005"]
["Slanting of the palpebral fissure","HP:0200006"]
["Abnormal size of the palpebral fissures","HP:0200007"]
["Intestinal polyposis","HP:0200008"]
["Abnormal length of corpus callosum","HP:0200011"]
["Short corpus callosum","HP:0200012"]
["Neoplasm of fatty tissue","HP:0200013"]
["Symmetric great toe depigmentation","HP:0200015"]
["Acrokeratosis","HP:0200016"]
["Cerebral white matter agenesis","HP:0200017"]
["Protanomaly","HP:0200018"]
["Corneal erosion","HP:0200020"]
["Down-sloping shoulders","HP:0200021"]
["Choroid plexus papilloma","HP:0200022"]
["Priapism","HP:0200023"]
["Premature chromatid separation","HP:0200024"]
["Mandibular pain","HP:0200025"]
["Ocular pain","HP:0200026"]
["Pretibial myxedema","HP:0200028"]
["Vasculitis in the skin","HP:0200029"]
["Punctate vasculitis skin lesions","HP:0200030"]
["Kayser-Fleischer ring","HP:0200032"]
["Papule","HP:0200034"]
["Skin plaque","HP:0200035"]
["Skin nodule","HP:0200036"]
["Skin vesicle","HP:0200037"]
["Pustule","HP:0200039"]
["Epidermoid cyst","HP:0200040"]
["Skin erosion","HP:0200041"]
["Skin ulcer","HP:0200042"]
["Verrucae","HP:0200043"]
["Porokeratosis","HP:0200044"]
["Cat cry","HP:0200046"]
["Chondritis of pinna","HP:0200047"]
["Cyanotic episode","HP:0200048"]
["Upper limb hypertonia","HP:0200049"]
["Bracket metacarpal epiphyses","HP:0200050"]
["Hemihypotrophy of lower limb","HP:0200053"]
["Foot monodactyly","HP:0200054"]
["Small hand","HP:0200055"]
["Macular scar","HP:0200056"]
["Marcus Gunn pupil","HP:0200057"]
["Angiosarcoma","HP:0200058"]
["Metastatic angiosarcoma","HP:0200059"]
["Colorectal polyposis","HP:0200063"]
["Asymmetry of iris pigmentation","HP:0200064"]
["Chorioretinal degeneration","HP:0200065"]
["Ribbonlike corneal degeneration","HP:0200066"]
["Recurrent spontaneous abortion","HP:0200067"]
["Nonprogressive visual loss","HP:0200068"]
["Peripheral retinal atrophy","HP:0200070"]
["Peripheral vitreoretinal degeneration","HP:0200071"]
["Episodic quadriplegia","HP:0200072"]
["Respiratory insufficiency due to defective ciliary clearance","HP:0200073"]
["Severe limb shortening","HP:0200083"]
["Giant cell hepatitis","HP:0200084"]
["Limb tremor","HP:0200085"]
["Frontal open bite","HP:0200094"]
["obsolete Anterior open bite","HP:0200095"]
["Triangular-shaped open mouth","HP:0200096"]
["Oral mucosal blisters","HP:0200097"]
["Absent skin pigmentation","HP:0200098"]
["obsolete Peripheral retinal pigmentation abnormalities","HP:0200099"]
["Decreased/absent ankle reflexes","HP:0200101"]
["Sparse or absent eyelashes","HP:0200102"]
["Absent fifth fingernail","HP:0200104"]
["Absent fifth toenail","HP:0200105"]
["Absent/shortened dynein arms","HP:0200106"]
["Shortened inner dynein arms","HP:0200107"]
["Shortened outer dynein arms","HP:0200108"]
["Absent/shortened outer dynein arms","HP:0200109"]
["Absent stapes head","HP:0200111"]
["Aphalangy of hands and feet","HP:0200113"]
["Metabolic alkalosis","HP:0200114"]
["Distal ileal atresia","HP:0200116"]
["Recurrent upper and lower respiratory tract infections","HP:0200117"]
["Malabsorption of Vitamin B12","HP:0200118"]
["Acute hepatitis","HP:0200119"]
["Chronic active hepatitis","HP:0200120"]
["Atypical or prolonged hepatitis","HP:0200122"]
["Chronic hepatitis","HP:0200123"]
["Chronic hepatitis due to cryptosporidium infection","HP:0200124"]
["Mitochondrial respiratory chain defects","HP:0200125"]
["obsolete Amyloid cardiomyopathy","HP:0200126"]
["Atrial cardiomyopathy","HP:0200127"]
["Biventricular hypertrophy","HP:0200128"]
["obsolete Calcific mitral stenosis","HP:0200129"]
["Lumbosacral meningocele","HP:0200133"]
["Epileptic encephalopathy","HP:0200134"]
["obsolete Macrocephaly due to hydrocephalus","HP:0200135"]
["Oral-pharyngeal dysphagia","HP:0200136"]
["Bilateral choanal atresia/stenosis","HP:0200138"]
["Small, conical teeth","HP:0200141"]
["Megaloblastic erythroid hyperplasia","HP:0200143"]
["obsolete Anaphylactoid purpura","HP:0200144"]
["Mucoid extracellular matrix accumulation","HP:0200146"]
["Neuronal loss in basal ganglia","HP:0200147"]
["Abnormal liver function tests during pregnancy","HP:0200148"]
["CSF lymphocytic pleiocytosis","HP:0200149"]
["Increased serum bile acid concentration during pregnancy","HP:0200150"]
["Cutaneous mastocytosis","HP:0200151"]
["Agenesis of lateral incisor","HP:0200153"]
["Agenesis of mandibular lateral incisor","HP:0200154"]
["Agenesis of permanent mandibular lateral incisor","HP:0200158"]
["Agenesis of primary mandibular lateral incisor","HP:0200159"]
["Agenesis of maxillary incisor","HP:0200160"]
["Agenesis of mandibular incisor","HP:0200161"]
["Tall chin","HP:0400000"]
["Chin with vertical crease","HP:0400001"]
["Extra concha fold","HP:0400002"]
["Focal absence of the external ear","HP:0400003"]
["Long ear","HP:0400004"]
["Short ear","HP:0400005"]
["Polymenorrhea","HP:0400007"]
["Menometrorrhagia","HP:0400008"]
["Abnormality of vomer","HP:0410000"]
["Cleft maxillary alveolus","HP:0410003"]
["obsolete Cleft secondary palate","HP:0410004"]
["Cleft hard palate","HP:0410005"]
["Abnormality of ophthalmic artery","HP:0410006"]
["obsolete Abnormality of cartilage morphology","HP:0410007"]
["Abnormality of the peripheral nervous system","HP:0410008"]
["Abnormality of the somatic nervous system","HP:0410009"]
["Abnormality of somatic nerve plexus","HP:0410010"]
["Abnormality of masticatory muscle","HP:0410011"]
["Abnormal mouth floor morphology","HP:0410012"]
["Abnormality of the submandibular region","HP:0410013"]
["Abnormality of ganglion","HP:0410014"]
["Abnormality of ganglion of peripheral nervous system","HP:0410015"]
["Abnormality of cranial ganglion","HP:0410016"]
["Otitis externa","HP:0410017"]
["Recurrent ear infections","HP:0410018"]
["Epigastric pain","HP:0410019"]
["Fish odor","HP:0410020"]
["Musty odor","HP:0410021"]
["Vaginal fish odor","HP:0410022"]
["Abnormal distribution of cell junction proteins in buccal mucosal cells","HP:0410023"]
["Abnormal periodontium morphology","HP:0410026"]
["Alveolar bone loss around teeth","HP:0410027"]
["Recurrent oral herpes","HP:0410028"]
["Cleft lip","HP:0410030"]
["Submucous cleft of soft and hard palate","HP:0410031"]
["obsolete Cleft of uvula","HP:0410032"]
["Unilateral alveolar cleft of maxilla","HP:0410033"]
["Bilateral alveolar cleft of maxilla","HP:0410034"]
["Abnormal T cell activation","HP:0410035"]
["Abnormal liver morphology","HP:0410042"]
["Abnormal neural tube morphology","HP:0410043"]
["Abnormality of radial ray","HP:0410049"]
["Decreased level of 1,5 anhydroglucitol in serum","HP:0410050"]
["Increased level of 3-hydroxy-3-methylglutaric acid in urine","HP:0410051"]
["Increased level of allantoin in serum","HP:0410052"]
["Increased level of GABA in serum","HP:0410053"]
["Decreased level of GABA in serum","HP:0410054"]
["Decreased level of erythritol in urine","HP:0410055"]
["Decreased level of erythritol in CSF","HP:0410056"]
["Increased level of D-threitol in plasma","HP:0410057"]
["Increased level of D-threitol in CSF","HP:0410058"]
["Increased level of D-threitol in urine","HP:0410059"]
["Decreased level of D-mannose in urine","HP:0410060"]
["Increased level of galactitol in plasma","HP:0410061"]
["Increased level of galactitol in urine","HP:0410062"]
["Increased level of galactonate in red blood cells","HP:0410063"]
["Increased level of galactitol in red blood cells","HP:0410064"]
["Increased level of hippuric acid in blood","HP:0410065"]
["Increased level of hippuric acid in urine","HP:0410066"]
["Increased level of L-fucose in urine","HP:0410067"]
["Increased level of L-glutamic acid in blood","HP:0410068"]
["Increased level of propylene glycol in blood","HP:0410069"]
["Increased level of ribitol in urine","HP:0410070"]
["Increased level of ribitol in CSF","HP:0410071"]
["Increased level of ribose in urine","HP:0410072"]
["Increased level of ribose in CSF","HP:0410073"]
["Increased level of xylitol in urine","HP:0410074"]
["Increased level of xylitol in CSF","HP:0410075"]
["Increased level of L-pyroglutamic acid in urine","HP:0410132"]
["Chronic idiopathic urticaria","HP:0410133"]
["Physical urticaria","HP:0410134"]
["Cold urticaria","HP:0410135"]
["Aquagenic urticaria","HP:0410136"]
["Solar urticaria","HP:0410137"]
["Vibratory urticaria","HP:0410138"]
["Exercise induced anaphylaxis","HP:0410139"]
["Abnormal biotinidase level","HP:0410144"]
["Decreased biotinidase level","HP:0410145"]
["Increased biotinidase level","HP:0410146"]
["Eosinophilic infiltration in the stomach mucosa","HP:0410147"]
["Idiopathic anaphylaxis","HP:0410148"]
["Drug-induced anaphylaxis","HP:0410149"]
["Eosinophilic infiltration of the esophagus","HP:0410151"]
["Eosinophilic microabscess formation in the esophagus","HP:0410152"]
["Increased level of methylsuccinic acid in urine","HP:0410153"]
["Increased level of myristic acid in serum","HP:0410154"]
["Increased level of N-acetylneuraminic acid in urine","HP:0410156"]
["Increased level of N-acetylneuraminic acid in fibroblasts","HP:0410157"]
["Increased urine O-phosphoethanolamine level","HP:0410158"]
["Defective interstrand cross-link repair","HP:0410166"]
["Abnormal morphology of the chest musculature","HP:0410167"]
["Abnormality of the back musculature","HP:0410168"]
["Abnormal morphology of the shoulder musculature","HP:0410169"]
["Hippocampal atrophy","HP:0410170"]
["Increased cotinine level","HP:0410171"]
["Blood xenobiotic","HP:0410172"]
["Increased circulating troponin I concentration","HP:0410173"]
["Increased circulating troponin T concentration","HP:0410174"]
["Hyperketonemia","HP:0410175"]
["Abnormal glucose-6-phosphate dehydrogenase level","HP:0410176"]
["Abnormal glucose-6-phosphate dehydrogenase level in blood","HP:0410177"]
["Increased glucose-6-phosphate dehydrogenase level in blood","HP:0410178"]
["Decreased glucose-6-phosphate dehydrogenase level in blood","HP:0410179"]
["Abnormal glucose-6-phosphate dehydrogenase level in dried blood spot","HP:0410180"]
["Increased glucose-6-phosphate dehydrogenase level in dried blood spot","HP:0410181"]
["Decreased glucose-6-phosphate dehydrogenase level in dried blood spot","HP:0410182"]
["Abnormal glucose-6-phosphate dehydrogenase level in leukocytes","HP:0410183"]
["Abnormal glucose-6-phosphate dehydrogenase level in red blood cells","HP:0410184"]
["Abnormal glucose-6-phosphate dehydrogenase level in tissue","HP:0410185"]
["Increased glucose-6-phosphate dehydrogenase level in tissue","HP:0410186"]
["Decreased glucose-6-phosphate dehydrogenase level in tissue","HP:0410187"]
["Decreased glucose-6-phosphate dehydrogenase level in red blood cells","HP:0410188"]
["Increased glucose-6-phosphate dehydrogenase level in red blood cells","HP:0410189"]
["Decreased glucose-6-phosphate dehydrogenase level in leukocytes","HP:0410190"]
["Increased glucose-6-phosphate dehydrogenase level in leukocytes","HP:0410191"]
["Abnormal uridine diphosphate glucose-4-epimerase level","HP:0410192"]
["Abnormal uridine diphosphate glucose-4-epimerase level in plasma","HP:0410193"]
["Increased uridine diphosphate glucose-4-epimerase level in plasma","HP:0410194"]
["Decreased uridine diphosphate glucose-4-epimerase level in plasma","HP:0410195"]
["Abnormal uridine diphosphate glucose-4-epimerase level in red blood cells","HP:0410196"]
["Increased uridine diphosphate glucose-4-epimerase level in red blood cells","HP:0410197"]
["Decreased uridine diphosphate glucose-4-epimerase level in red blood cells","HP:0410198"]
["Increased CSF urate concentration","HP:0410199"]
["Positive meconium barbiturate test","HP:0410200"]
["Positive hair barbiturate test","HP:0410201"]
["Positive stool barbiturate test","HP:0410202"]
["Positive gastric fluid barbiturate test","HP:0410203"]
["Increased intestinal transit time","HP:0410204"]
["Abnormal circulating nicotinurate concentration","HP:0410205"]
["Increased circulating nicotinurate level","HP:0410206"]
["Positive methadone plasma/serum test","HP:0410207"]
["Positive plasma/serum cotinine test","HP:0410208"]
["Folate deficiency in CSF","HP:0410209"]
["Abnormal cord blood measurement","HP:0410210"]
["Abnormal blood gas level in cord blood","HP:0410211"]
["Hyperoxemia in cord blood","HP:0410212"]
["Hypoxemia in cord blood","HP:0410213"]
["Hypercapnia in cord blood","HP:0410214"]
["Hypocapnia in cord blood","HP:0410215"]
["Abnormal blood 5-methyltetrahydrofolate level","HP:0410216"]
["Reduced blood 5-methyltetrahydrofolate level","HP:0410217"]
["Hypoplasia of maxilla relative to mandible","HP:0410218"]
["Hypoplasia of mandible relative to maxilla","HP:0410219"]
["Increased anti-dairy protein IgE antibody level","HP:0410220"]
["Increased anti-animal protein IgE antibody level","HP:0410221"]
["Increased anti-seafood IgE antibody level","HP:0410222"]
["Increased anti-dust mite IgE antibody level","HP:0410223"]
["Increased anti-bacteria IgE antibody level","HP:0410224"]
["Increased anti-drug IgE antibody level","HP:0410225"]
["Increased anti-feather IgE antibody level","HP:0410226"]
["Increased anti-food allergen IgE antibody level","HP:0410227"]
["Increased anti-plant based food allergen IgE antibody level","HP:0410228"]
["Increased anti-gluten IgE antibody level","HP:0410229"]
["Increased anti-nut food product IgE antibody level","HP:0410230"]
["Increased anti-egg IgE antibody level","HP:0410231"]
["Increased anti-fungi IgE antibody level","HP:0410232"]
["Increased anti-meat allergen IgE antibody level","HP:0410233"]
["Increased anti-parasite IgE antibody level","HP:0410234"]
["Increased anti-insect IgE antibody level","HP:0410235"]
["Increased anti-venom IgE antibody level","HP:0410236"]
["Increased anti-plant product IgE antibody level","HP:0410238"]
["Positive urine norcotinine test","HP:0410239"]
["Abnormal circulating IgA level","HP:0410240"]
["Abnormal circulating IgE level","HP:0410241"]
["Abnormal circulating IgG level","HP:0410242"]
["Abnormal circulating IgM level","HP:0410243"]
["Abnormal circulating IgD level","HP:0410244"]
["Decreased circulating IgD","HP:0410245"]
["Increased circulating IgD level","HP:0410246"]
["Increased anti-animal dander IgE antibody level","HP:0410247"]
["Increased anti-house dust mite IgE antibody level","HP:0410248"]
["Increased anti-alpha-gal IgE antibody level","HP:0410249"]
["Abnormal L-selectin shedding","HP:0410251"]
["Chronic neutropenia","HP:0410252"]
["Myeloid maturation arrest","HP:0410253"]
["Cyclic neutropenia in myeloid maturation arrest in bone marrow","HP:0410254"]
["Transient neutropenia","HP:0410255"]
["Infection associated neutropenia","HP:0410256"]
["Neutrophilia in presence of infection","HP:0410257"]
["Neutrophilia in absence of infection","HP:0410258"]
["Hepatopulmonary fusion","HP:0410259"]
["Asymmetrical gluteal crease","HP:0410260"]
["Wide space between 4th and 5th toe","HP:0410261"]
["Lower cranial nerve dysfunction","HP:0410262"]
["Brain imaging abnormality","HP:0410263"]
["Subglottic hemangioma","HP:0410264"]
["Supraglottic hemangioma","HP:0410265"]
["Visceral hemangioma","HP:0410266"]
["Intestinal hemangioma","HP:0410267"]
["Spleen hemangioma","HP:0410268"]
["Labial hemangioma","HP:0410269"]
["Esophageal hemangioma","HP:0410270"]
["Laryngeal hemangioma","HP:0410271"]
["Vulvar hemangioma","HP:0410272"]
["Retropharyngeal hemangioma","HP:0410273"]
["Paraspinal hemangioma","HP:0410274"]
["Lumbosacral hemangioma","HP:0410275"]
["Supraumbilical raphe","HP:0410276"]
["Sternal pit","HP:0410277"]
["Pituitary gland cyst","HP:0410278"]
["Atrophic pituitary gland","HP:0410279"]
["Pediatric onset","HP:0410280"]
["Dyspepsia","HP:0410281"]
["Abnormal circulating amylase level","HP:0410282"]
["Positive blood acetaminophen test","HP:0410283"]
["Positive norpropoxyphene blood test","HP:0410284"]
["Positive meconium methadone test","HP:0410285"]
["Positive blood molindone test","HP:0410286"]
["Intrathoracic hemangioma","HP:0410287"]
["Hyperamylasemia","HP:0410288"]
["Hypoamylasemia","HP:0410289"]
["Positive urine norpropoxyphene test","HP:0410290"]
["Negativism","HP:0410291"]
["Abnormal isohemagglutinin level","HP:0410292"]
["Absent isohemagglutinin level","HP:0410293"]
["Decreased specific antibody response to protein vaccine","HP:0410294"]
["Complete or near-complete absence of specific antibody response to tetanus vaccine","HP:0410295"]
["Complete or near-complete absence of specific antibody response to hepatitis B vaccine","HP:0410296"]
["Partial absence of specific antibody response to tetanus vaccine","HP:0410297"]
["Partial absence of specific antibody response to hepatitis B vaccine","HP:0410298"]
["Decreased specific antibody response to polysaccharide vaccine","HP:0410299"]
["Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vaccine","HP:0410300"]
["Partial absence of specific antibody response to unconjugated pneumococcus vaccine","HP:0410301"]
["Decreased specific antibody response to protein-conjugated polysaccharide vaccine","HP:0410302"]
["Complete or near-complete absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine","HP:0410303"]
["Complete or near-complete absence of specific antibody response to meningococcus vaccine","HP:0410304"]
["Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine","HP:0410305"]
["Partial absence of specific antibody response to meningococcus vaccine","HP:0410306"]
["Positive stool methadone test","HP:0410307"]
["Decreased specific antibody response to infection","HP:0410308"]
["Alpha-aminoadipic aciduria","HP:0410309"]
["Abnormality of neutrophil morphology in CSF","HP:0410310"]
["Hyposegmentation of neutrophil nuclei in CSF","HP:0410311"]
["Hypersegmentation of neutrophil nuclei in CSF","HP:0410312"]
["Abnormal urinary 1-methylhistidine concentration","HP:0410313"]
["Decreased urinary 1-methylhistidine","HP:0410314"]
["Increased urinary 1-methylhistidine","HP:0410315"]
["Abnormal urinary 3-methylhistidine level","HP:0410316"]
["Increased urinary 3-methylhistidine","HP:0410317"]
["Decreased urinary 3-methylhistidine","HP:0410318"]
["Alpha-gal allergy","HP:0410319"]
["Animal protein allergy","HP:0410320"]
["Animal dander allergy","HP:0410321"]
["Bacteria allergy","HP:0410322"]
["Drug allergy","HP:0410323"]
["Dust mite allergy","HP:0410324"]
["House dust mite allergy","HP:0410325"]
["Feather allergy","HP:0410326"]
["Dairy allergy","HP:0410327"]
["Egg allergy","HP:0410328"]
["Gluten allergy","HP:0410329"]
["Meat allergen allergy","HP:0410330"]
["Nut food product allergy","HP:0410331"]
["Plant based food allergy","HP:0410332"]
["Seafood allergy","HP:0410333"]
["Fungi allergy","HP:0410334"]
["Insect allergy","HP:0410335"]
["Venom allergy","HP:0410336"]
["Parasite allergy","HP:0410337"]
["Plant product allergy","HP:0410338"]
["Insect bite allergy","HP:0410339"]
["Focal epithelial hyperplasia of oral mucosa","HP:0410340"]
["Abnormal circulating heparan sulfate level","HP:0410341"]
["Increased circulating heparan sulfate level","HP:0410342"]
["Decreased circulating heparan sulfate level","HP:0410343"]
["Shortened O-fucosylated glycan on properdin","HP:0410344"]
["Increased urinary polyhexose","HP:0410345"]
["Increased urinary galactosylated oligosaccharide","HP:0410346"]
["Increased urinary high-mannose-type oligosaccharide","HP:0410347"]
["Increased urinary multiantennary sialylated oligosaccharide","HP:0410348"]
["Decreased glycosyltransferase O-Fucosylpeptide 3-Beta-N-Acetylglucosaminyltransferase level","HP:0410349"]
["Increased urinary fucosylated oligosaccharide","HP:0410350"]
["Abnormal complex N-glycan level","HP:0410351"]
["Increased complex N-glycan level","HP:0410352"]
["Decreased complex N-glycan level","HP:0410353"]
["Increased sialylated N-glycan level","HP:0410354"]
["Decreased sialylated N-glycan level","HP:0410355"]
["Abnormal high-mannose N-glycan level","HP:0410356"]
["Increased high-mannose N-glycan level","HP:0410357"]
["Decreased high-mannose N-glycan level","HP:0410358"]
["Abnormal core 1 O-glycan level","HP:0410359"]
["Increased core 1 O-glycan level","HP:0410360"]
["Decreased core 1 O-glycan level","HP:0410361"]
["Decreased O-mannosyl glycans on alpha-dystroglycan","HP:0410362"]
["Increased monosialylated core 1 O-glycan level","HP:0410363"]
["Decreased monosialylated core 1 O-glycan level","HP:0410364"]
["Increased disialylated core 1 O-glycan level","HP:0410365"]
["Increased globoside Gb4 level","HP:0410366"]
["Increased hepatitis A virus antibody level","HP:0410367"]
["Increased globoside Gb3 level","HP:0410368"]
["Increased hepatitis B virus antibody level","HP:0410369"]
["Absence of ganglioside GM3","HP:0410370"]
["Increased hepatitis C virus antibody level","HP:0410371"]
["Increased Tn-antigen level","HP:0410372"]
["Abnormal proportion of naive CD4 T cells","HP:0410373"]
["Abnormal proportion of naive CD8 T cells","HP:0410374"]
["Increased proportion of naive CD4 T cells","HP:0410375"]
["Increased proportion of naive CD8 T cells","HP:0410376"]
["Decreased proportion of naive CD8 T cells","HP:0410377"]
["Decreased proportion of naive CD4 T cells","HP:0410378"]
["Abnormal proportion of CD4-positive, alpha-beta memory T cells","HP:0410379"]
["Abnormal proportion of CD8-positive, alpha-beta memory T cells","HP:0410380"]
["Abnormal proportion of central memory CD4-positive, alpha-beta T cells","HP:0410381"]
["obsolete Abnormal proportion of effector memory CD4-positive, alpha-beta T cells","HP:0410382"]
["Abnormal proportion of effector memory CD8-positive, alpha-beta T cells","HP:0410383"]
["Abnormal proportion of central memory CD8-positive, alpha-beta T cells","HP:0410384"]
["Decreased proportion of CD8-positive, alpha-beta memory T cells","HP:0410385"]
["Decreased proportion of CD4-positive, alpha-beta memory T cells","HP:0410386"]
["obsolete Decreased proportion of effector memory CD4-positive, alpha-beta T cells","HP:0410387"]
["Decreased proportion of central memory CD4-positive, alpha-beta T cells","HP:0410388"]
["Decreased proportion of central memory CD8-positive, alpha-beta T cells","HP:0410389"]
["Decreased proportion of effector memory CD8-positive, alpha-beta T cells","HP:0410390"]
["Increased proportion of CD4-positive, alpha-beta memory T cells","HP:0410391"]
["Increased proportion of CD8-positive, alpha-beta memory T cells","HP:0410392"]
["Increased proportion of central memory CD4-positive, alpha-beta T cells","HP:0410393"]
["Increased proportion of effector memory CD4-positive, alpha-beta T cells","HP:0410394"]
["Increased proportion of effector memory CD8-positive, alpha-beta T cells","HP:0410395"]
["Increased proportion of central memory CD8-positive, alpha-beta T cells","HP:0410396"]
["Bronchiolectasis","HP:0410397"]
["Positive blood lead test","HP:0410399"]
["Absent sebaceous glands","HP:0410400"]
["Worse in evening","HP:0410401"]
["Abnormality of the frontal bone","HP:0430000"]
["Abnormality of the lacrimal bone","HP:0430002"]
["Abnormality of the palatine bone","HP:0430003"]
["Frontomalar faciosynostosis","HP:0430004"]
["Abnormality of ethmoid bone","HP:0430005"]
["Ectopic cilia of eyelid","HP:0430006"]
["Symblepharon","HP:0430007"]
["Accessory eyelid","HP:0430008"]
["Hypoplasia of eyelid","HP:0430009"]
["Microblepharia","HP:0430010"]
["Defect of palpebral conjunctiva","HP:0430011"]
["Incomplete ossification of palatine bone","HP:0430012"]
["Absent palatine bone ossification","HP:0430013"]
["Abnormality of musculature of soft palate","HP:0430014"]
["Abnormal morphology of musculature of pharynx","HP:0430015"]
["Abnormality of tensor veli palatini muscle","HP:0430016"]
["Abnormality of uvular muscle","HP:0430017"]
["Abnormality of nasal musculature","HP:0430018"]
["Abnormality of muscle of facial expression","HP:0430019"]
["Abnormality of levator labii superioris alaeque nasi muscle","HP:0430020"]
["Abnormal common carotid artery morphology","HP:0430021"]
["Abnormality of the sphenoid sinus","HP:0430022"]
["Abnormality of the maxillary sinus","HP:0430023"]
["Abnormality of external jugular vein","HP:0430024"]
["Bilateral facial palsy","HP:0430025"]
["Abnormality of the shape of the midface","HP:0430026"]
["Hyperplasia of the maxilla","HP:0430028"]
["Hyperplasia of the premaxilla","HP:0430029"]
["Body odor","HP:0500001"]
["Anal pain","HP:0500005"]
["Urethritis","HP:0500006"]
["Iris flocculi","HP:0500007"]
["Cornea verticillata","HP:0500008"]
["Dysplastic gangliocytoma of the cerebellum","HP:0500009"]
["obsolete Increased cholesterol esters","HP:0500010"]
["Moon facies","HP:0500011"]
["Abnormality of gonadotropin-releasing hormone level","HP:0500012"]
["Lack of gonadotropin-releasing hormone pulsatility","HP:0500013"]
["obsolete Abnormal test result","HP:0500014"]
["Abnormal cardiac test","HP:0500015"]
["Abnormal cardiac MRI","HP:0500016"]
["Abnormal cardiac catheterization","HP:0500017"]
["Abnormal cardiac exercise stress test","HP:0500018"]
["Abnormal resting energy expenditure from metabolic cart test","HP:0500019"]
["Abnormal cardiac biomarker test","HP:0500020"]
["Reduced brain gamma-aminobutyric acid level by MRS","HP:0500021"]
["Abnormal circulating dehydroepiandrosterone concentration","HP:0500022"]
["Shoulder muscle aplasia","HP:0500023"]
["Aplasia of the musculature of the pelvis","HP:0500024"]
["Hypoplasia of the musculature of the pelvis","HP:0500026"]
["Aplastic colon","HP:0500027"]
["Cotton wool plaques","HP:0500028"]
["Abnormal hepatic glycogen storage","HP:0500030"]
["Sclerosis of the carpal bones","HP:0500031"]
["Abnormal neuron branching","HP:0500032"]
["Abnormal natural killer subset distribution","HP:0500033"]
["Nasolacrimal sac obstruction","HP:0500034"]
["Nasolacrimal sac granuloma","HP:0500035"]
["Nasolacrimal sac papilloma","HP:0500036"]
["Nasolacrimal sac epithelial papillary carcinoma","HP:0500037"]
["Conjunctival cicatrization","HP:0500039"]
["Dermolipoma of the conjunctiva","HP:0500040"]
["Myopic astigmatism","HP:0500041"]
["Latent hypermetropia","HP:0500042"]
["Eyelid retraction","HP:0500043"]
["Upper eyelid retraction","HP:0500044"]
["Collier's sign","HP:0500045"]
["Seborrhoeic blepharitis","HP:0500046"]
["Nasolacrimal sac lymphoma","HP:0500047"]
["Delayed canalization of nasolacrimal duct","HP:0500048"]
["Retinopathy of prematurity","HP:0500049"]
["Retinopathy of prematurity stage 1","HP:0500050"]
["Retinopathy of prematurity stage 2","HP:0500051"]
["Retinopathy of prematurity stage 3","HP:0500052"]
["Retinopathy of prematurity stage 4","HP:0500053"]
["Retinopathy of prematurity stage 4a","HP:0500054"]
["Retinopathy of prematurity stage 4b","HP:0500055"]
["Retinopathy of prematurity stage 5","HP:0500056"]
["Retinopathy of prematurity stage 5a","HP:0500057"]
["Retinopathy of prematurity stage 5b","HP:0500058"]
["Retinopathy of prematurity zone I","HP:0500059"]
["Retinopathy of prematurity zone II","HP:0500060"]
["Retinopathy of prematurity zone III","HP:0500061"]
["Retinopathy of prematurity plus","HP:0500062"]
["Retinopathy of prematurity pre-plus","HP:0500063"]
["Retinopathy of prematurity threshold","HP:0500064"]
["Retinopathy of prematurity prethreshold","HP:0500065"]
["Latent myopia","HP:0500066"]
["Paralytic ectropion","HP:0500069"]
["Conjunctival dermolipoma","HP:0500070"]
["Absolute eccentric fixation","HP:0500072"]
["Abnormal ocular alignment","HP:0500073"]
["Dissociated vertical deviation","HP:0500074"]
["Dissociated horizontal deviation","HP:0500075"]
["Alternating hypertropia","HP:0500076"]
["Alternating hyperphoria","HP:0500077"]
["Alternating hypotropia","HP:0500078"]
["Alternating hypophoria","HP:0500079"]
["Pseudophakia","HP:0500081"]
["Optic nerve gray crescent","HP:0500086"]
["Peripapillary atrophy","HP:0500087"]
["Foveal depigmentation","HP:0500088"]
["Optic nerve sheath meningioma","HP:0500089"]
["Periocular capillary hemangioma","HP:0500090"]
["Lymphangioma of the orbit","HP:0500091"]
["Orbital rhabdomyosarcoma","HP:0500092"]
["Food allergy","HP:0500093"]
["Latex allergy","HP:0500094"]
["Food-induced anaphylaxis","HP:0500095"]
["Venom-induced anaphylaxis","HP:0500096"]
["Stool xenobiotic","HP:0500097"]
["Meconium xenobiotic","HP:0500098"]
["Hair xenobiotic","HP:0500099"]
["Plasma/serum xenobiotic","HP:0500100"]
["Gastric fluid xenobiotic","HP:0500101"]
["Decreased diastolic blood pressure","HP:0500104"]
["Decreased systolic blood pressure","HP:0500105"]
["Isolated systolic hypertension","HP:0500106"]
["Isolated diastolic hypotension","HP:0500107"]
["Positive urine cocaine test","HP:0500108"]
["Positive urine barbiturate test","HP:0500109"]
["Positive urine cannabinoid test","HP:0500110"]
["Positive urine benzodiazepines test","HP:0500111"]
["Positive urine amphetamine test","HP:0500112"]
["Positive urine opioid test","HP:0500113"]
["Abnormal stool urobilinogen concentration","HP:0500114"]
["Increased stool urobilinogen concentration","HP:0500115"]
["Positive blood barbiturate test","HP:0500116"]
["Abnormal CSF urate concentration","HP:0500117"]
["Hypovalinemia","HP:0500132"]
["Hypotyrosinemia","HP:0500133"]
["Hypertryptophanemia","HP:0500134"]
["Hypotryptophanemia","HP:0500135"]
["Hypothreoninemia","HP:0500136"]
["Hyperserinemia","HP:0500138"]
["Hypoprolinemia","HP:0500139"]
["Decreased circulating hydroxyproline concentration","HP:0500140"]
["Hypophenylalaninemia","HP:0500141"]
["Hypolysinemia","HP:0500142"]
["Hypoleucinemia","HP:0500143"]
["Hypoisoleucinemia","HP:0500144"]
["Hypohistidinemia","HP:0500145"]
["Hypoglutaminemia","HP:0500147"]
["Abnormal circulating glutamate concentration","HP:0500148"]
["Hyperglutamatemia","HP:0500149"]
["Hypoglutamatemia","HP:0500150"]
["Hypercystinemia","HP:0500151"]
["Hypocystinemia","HP:0500152"]
["Hyperargininemia","HP:0500153"]
["Hypoalaninemia","HP:0500154"]
["Abnormal circulating asparagine concentration","HP:0500155"]
["Hyperasparaginemia","HP:0500156"]
["Hypoasparaginemia","HP:0500157"]
["Abnormal circulating aspartic acid concentration","HP:0500158"]
["Increased level of circulating aspartic acid","HP:0500159"]
["Abnormal circulating carnosine concentration","HP:0500160"]
["Increased level of carnosine in blood","HP:0500161"]
["Decreased level of carnosine in blood","HP:0500162"]
["Hypoornithinemia","HP:0500163"]
["Abnormal blood carbon dioxide level","HP:0500164"]
["Abnormal blood oxygen level","HP:0500165"]
["Abnormal circulating gastrin concentration","HP:0500166"]
["Hypergastrinemia","HP:0500167"]
["Abnormal concentration of acylcarnitine in the urine","HP:0500170"]
["Reflex asystolic syncope","HP:0500173"]
["Abnormal circulating amino sulfonic acid concentration","HP:0500180"]
["Hypertaurinemia","HP:0500181"]
["Hypotaurinemia","HP:0500182"]
["Abnormal CSF carboxylic acid concentration","HP:0500183"]
["Abnormal CSF amino acid concentration","HP:0500184"]
["Abnormal CSF branched chain amino acid concentration","HP:0500185"]
["Abnormal CSF valine concentration","HP:0500186"]
["Increased CSF valine concentration","HP:0500187"]
["Decreased CSF valine concentration","HP:0500188"]
["Abnormal CSF leucine concentration","HP:0500189"]
["Decreased CSF leucine concentration","HP:0500190"]
["Increased CSF leucine concentration","HP:0500191"]
["Abnormal CSF isoleucine concentration","HP:0500192"]
["Increased CSF isoleucine concentration","HP:0500193"]
["Decreased CSF isoleucine concentration","HP:0500194"]
["Abnormal CSF glutamine family amino acid concentration","HP:0500195"]
["Abnormal CSF glutamine concentration","HP:0500196"]
["Increased CSF glutamine concentration","HP:0500197"]
["Decreased CSF glutamine concentration","HP:0500198"]
["Abnormal CSF glutamate concentration","HP:0500199"]
["Increased CSF glutamate concentration","HP:0500200"]
["Decreased CSF glutamate concentration","HP:0500201"]
["Abnormal CSF arginine concentration","HP:0500202"]
["Increased CSF arginine concentration","HP:0500203"]
["Decreased CSF arginine concentration","HP:0500204"]
["Abnormal CSF aspartate family amino acid concentration","HP:0500205"]
["Abnormal CSF lysine concentration","HP:0500206"]
["Decreased CSF lysine concentration","HP:0500207"]
["Increased CSF lysine concentration","HP:0500208"]
["Abnormal CSF methionine concentration","HP:0500209"]
["Increased CSF methionine concentration","HP:0500210"]
["Abnormal CSF threonine concentration","HP:0500211"]
["Increased CSF threonine concentration","HP:0500212"]
["Decreased CSF threonine concentration","HP:0500213"]
["Abnormal CSF aromatic amino acid concentration","HP:0500214"]
["Abnormal CSF phenylalanine concentration","HP:0500215"]
["Abnormal CSF aspartate concentration","HP:0500216"]
["Increased CSF aspartate concentration","HP:0500217"]
["Abnormal CSF tryptophan concentration","HP:0500218"]
["Abnormal CSF tyrosine concentration","HP:0500219"]
["Increased CSF tyrosine concentration","HP:0500220"]
["Decreased CSF tyrosine concentration","HP:0500221"]
["Increased CSF tryptophan concentration","HP:0500222"]
["Increased CSF phenylalanine concentration","HP:0500223"]
["Decreased CSF phenylalanine concentration","HP:0500224"]
["Abnormal CSF serine family amino acid concentration","HP:0500225"]
["Abnormal CSF serine concentration","HP:0500226"]
["Increased CSF serine concentration","HP:0500227"]
["Decreased CSF serine concentration","HP:0500228"]
["Abnormal CSF glycine concentration","HP:0500229"]
["Increased CSF glycine concentration","HP:0500230"]
["Abnormal CSF pyruvate family amino acid concentration","HP:0500231"]
["Abnormal CSF alanine concentration","HP:0500232"]
["Increased CSF alanine concentration","HP:0500233"]
["Decreased CSF alanine concentration","HP:0500234"]
["Abnormal CSF histidine concentration","HP:0500235"]
["Increased CSF histidine concentration","HP:0500236"]
["Decreased CSF histidine concentration","HP:0500237"]
["Abnormal CSF albumin concentration","HP:0500238"]
["Increased CSF albumin concentration","HP:0500239"]
["Abnormal CSF carnosine concentration","HP:0500240"]
["Abnormal CSF homocarnosine concentration","HP:0500241"]
["Increased CSF homocarnosine concentration","HP:0500242"]
["Abnormal CSF ornithine concentration","HP:0500243"]
["Increased CSF ornithine concentration","HP:0500244"]
["Abnormal CSF citrulline concentration","HP:0500245"]
["Increased CSF citrulline concentration","HP:0500246"]
["Abnormal CSF alpha-aminobutyrate concentration","HP:0500247"]
["Increased CSF alpha-aminobutyrate concentration","HP:0500248"]
["Abnormal circulating ethanolamine concentration","HP:0500249"]
["Increased circulating ethanolamine concentration","HP:0500250"]
["Abnormal urine sebacic acid concentration","HP:0500251"]
["Increased urine sebacic acid concentration","HP:0500252"]
["Increased level of gamma-aminobutyric acid in urine","HP:0500253"]
["Abnormal urine hexanoylglycine concentration","HP:0500254"]
["Increased level of hexanoylglycine in urine","HP:0500255"]
["Abnormal urine isobutyrylglycine concentration","HP:0500256"]
["Increased urine isobutyrylglycine concentration","HP:0500257"]
["Abnormal carbon dioxide level in cord blood","HP:0500258"]
["Abnormal oxygen level in cord blood","HP:0500259"]
["Triggered by head trauma","HP:0500260"]
["Triggered by anesthetics","HP:0500261"]
["Atrichia","HP:0500262"]
["Abnormal helper T cell proportion","HP:0500263"]
["Increased helper T cell proportion","HP:0500264"]
["Increased proportion of CD8-positive, alpha-beta TEMRA T cells","HP:0500265"]
["Decreased proportion of CD8-positive, alpha-beta TEMRA T cells","HP:0500266"]
["Abnormal proportion of CD4-positive helper T cells","HP:0500267"]
["Abnormal proportion of gamma-delta T cells","HP:0500269"]
["Increased proportion of gamma-delta T cells","HP:0500270"]
["Decreased proportion of gamma-delta T cells","HP:0500271"]
["Abnormal proportion of immature gamma-delta T cells","HP:0500272"]
["Increased proportion of immature gamma-delta T cells","HP:0500273"]
["Decreased proportion of immature gamma-delta T cells","HP:0500274"]
["Proximal scleroderma","HP:0550003"]
["Verruca plana","HP:0550004"]
["Bilateral basilar pulmonary fibrosis","HP:0550005"]
["obsolete Abnormal heart morphology","HP:3000001"]
["Abnormal inner ear epithelium morphology","HP:3000002"]
["Abnormal mandibular ramus morphology","HP:3000003"]
["Abnormality of frontalis muscle belly","HP:3000004"]
["Abnormality of masseter muscle","HP:3000005"]
["Abnormality of medial pterygoid muscle","HP:3000006"]
["Abnormality of mentalis muscle","HP:3000007"]
["Abnormality of mylohyoid muscle","HP:3000008"]
["Abnormality of nasalis muscle","HP:3000009"]
["Abnormality of orbicularis oris muscle","HP:3000010"]
["Abnormality of palatoglossus muscle","HP:3000011"]
["Abnormality of palatopharyngeus muscle","HP:3000012"]
["Abnormality of platysma","HP:3000013"]
["Abnormality of procerus muscle","HP:3000014"]
["Abnormality of risorius muscle","HP:3000015"]
["Abnormality of styloglossus muscle","HP:3000016"]
["Abnormality of temporalis muscle","HP:3000017"]
["Abnormality of zygomaticus major muscle","HP:3000018"]
["Abnormality of buccal mucosa","HP:3000019"]
["Abnormality of zygomaticus minor muscle","HP:3000020"]
["Abnormality of buccal fat pad","HP:3000021"]
["Abnormality of cartilage of external ear","HP:3000022"]
["Abnormality of angular artery","HP:3000023"]
["Abnormal facial artery morphology","HP:3000024"]
["Abnormality of ciliary ganglion","HP:3000025"]
["obsolete Abnormality of common carotid artery plus branches","HP:3000026"]
["Abnormality of buccinator muscle","HP:3000027"]
["Abnormality of depressor anguli oris muscle","HP:3000028"]
["Abnormality of depressor labii inferioris","HP:3000029"]
["Abnormality of bony orbit of skull","HP:3000030"]
["Abnormality of anterior ethmoidal artery","HP:3000031"]
["Abnormality of central retinal artery","HP:3000032"]
["Abnormal nasopharyngeal adenoid morphology","HP:3000033"]
["Abnormality nasal septum cartilage morphology","HP:3000034"]
["Abnormality of cervical plexus","HP:3000035"]
["Abnormality of head blood vessel","HP:3000036"]
["Abnormality of neck blood vessel","HP:3000037"]
["Abnormal cricoid cartilage morphology","HP:3000038"]
["Abnormality of dorsal nasal artery","HP:3000039"]
["Abnormality of ethmoid sinus","HP:3000040"]
["Abnormality of external carotid artery","HP:3000041"]
["Abnormal jugular vein morphology","HP:3000042"]
["Abnormal facial vein morphology","HP:3000043"]
["Abnormality of frontal process of maxilla","HP:3000044"]
["Abnormality of genioglossus muscle","HP:3000045"]
["Abnormality of geniohyoid muscle","HP:3000046"]
["Abnormal glossopharyngeal nerve morphology","HP:3000047"]
["Abnormal great auricular nerve morphology","HP:3000048"]
["Abnormal greater palatine artery morphology","HP:3000049"]
["Abnormality of odontoid tissue","HP:3000050"]
["Abnormal hyoglossus muscle morphology","HP:3000051"]
["Abnormality of hyoid bone","HP:3000052"]
["Abnormal hypopharynx morphology","HP:3000053"]
["Abnormality of inferior alveolar artery","HP:3000054"]
["Abnormality of inferior alveolar nerve","HP:3000055"]
["Abnormality of artery of lower lip","HP:3000056"]
["Abnormality of inferior oblique extraocular muscle","HP:3000057"]
["Abnormality of inferior rectus extraocular muscle","HP:3000058"]
["Abnormal inferior thyroid vein morphology","HP:3000059"]
["Abnormality of infraorbital artery","HP:3000060"]
["Abnormality of infra-orbital nerve","HP:3000061"]
["Abnormal internal carotid artery morphology","HP:3000062"]
["Abnormality of internal jugular vein","HP:3000063"]
["Abnormality of intrinsic muscle of tongue","HP:3000064"]
["Abnormal lacrimal artery morphology","HP:3000065"]
["Abnormal lacrimal sac morphology","HP:3000066"]
["Abnormal lateral cricoarytenoid muscle morphology","HP:3000067"]
["Abnormality of lateral pterygoid muscle","HP:3000068"]
["Abnormality of lateral rectus extra-ocular muscle","HP:3000069"]
["Abnormality of levator anguli oris","HP:3000070"]
["Abnormality of levator labii superioris","HP:3000071"]
["Abnormal levator palpebrae superioris morphology","HP:3000072"]
["Abnormality of levator veli palatini muscle","HP:3000073"]
["Abnormal lingual artery morphology","HP:3000074"]
["Abnormal lingual nerve morphology","HP:3000075"]
["Abnormality of lingual tonsil","HP:3000076"]
["Abnormal mandible condylar process morphology","HP:3000077"]
["Abnormal mandible coronoid process morphology","HP:3000078"]
["Abnormal mandibular symphysis morphology","HP:3000079"]
["Abnormal cardiac magnetic resonance imaging finding","HP:4000001"]
["Elevated myocardial native T2","HP:4000003"]
["Myocardial late gadolinium enhancement","HP:4000004"]
["Pericardial late gadolinium enhancement","HP:4000005"]
["Elevated myocardial native T1","HP:4000006"]
["Bronchoconstriction","HP:4000007"]
["Formation of multiple pronuclei during fertilization","HP:4000008"]
["Kinesiophobia","HP:4000009"]
["Impaired renal tubular reabsorption of bicarbonate","HP:4000010"]
["History of congenital HPV infection","HP:4000011"]
["Necrotizing ileitis","HP:4000012"]
["Anti-desmoglein-1 antibody positivity","HP:4000013"]
["Anti-desmoglein-3 antibody positivity","HP:4000014"]
["Anti-envoplakin antibody positivity","HP:4000015"]
["Anti-periplakin antibody positivity","HP:4000016"]
["Anti-desmoplakin I antibody positivity","HP:4000017"]
["Anti-desmoplakin II antibody positivity","HP:4000018"]
["Anti-BP230 antibody positivity","HP:4000019"]
["Anti-BP180 antibody positivity","HP:4000020"]
["Anti-laminin 332 antibody positivity","HP:4000021"]
["Anti-laminin 6 antibody positivity","HP:4000022"]
["Anti-laminin gamma1 antibody positivity","HP:4000023"]
["Anti-laminin antibody positivity","HP:4000024"]
["Anti-integrin antibody positivity","HP:4000025"]
["Anti-transglutaminase 6 antibody","HP:4000026"]
["anti-LAD-1 antibody positivity","HP:4000027"]
["Anti-LABD97 antibody positivity","HP:4000028"]
["Antigliadin antibody positivity","HP:4000029"]
["Anti-reticulin antibody positivity","HP:4000030"]
["Anti-type VII collagen antibody","HP:4000031"]
["False perception of self-motion","HP:4000032"]
["Non-spinning vertigo","HP:4000033"]
["Infection-ssociated lymphopenia","HP:4000034"]
["Primary obstructive megaureter","HP:4000035"]
["Encysted hydrocele of the cord","HP:4000036"]
["Congenital hydrocele","HP:4000037"]
["Infantile hydrocele","HP:4000038"]
["Reduced proportion of mucosal-associated invariant T cells","HP:4000039"]
["Puerpural onset","HP:4000040"]
["AA amyloidosis","HP:4000041"]
["Fracture type","HP:4000042"]
["Greenstick fracture","HP:4000043"]
["Transverse fracture","HP:4000044"]
["Spiral fracture","HP:4000045"]
["Oblique fracture","HP:4000046"]
["Compression fracture","HP:4000047"]
["Comminuted fracture","HP:4000048"]
["Segmental fracture","HP:4000049"]
["Open fracture","HP:4000050"]
["Closed fracture","HP:4000051"]
["Avulsion fracture","HP:4000052"]
["Displaced fracture","HP:4000053"]
["Exanthem","HP:4000054"]
["Intestinal inflammation","HP:4000055"]
["Abnormal apoptosis","HP:4000056"]
["Decreased FasL-mediated apoptosis","HP:4000057"]
["Glomerular proteinuria","HP:4000058"]
["Abnormal lung development","HP:4000059"]
["Abnormal pulmonary alveolar system development","HP:4000060"]
["Pancreatic alpha-cell hyperplasia","HP:4000061"]
["Anti-AK5 antibody","HP:5000000"]
["Anti-AMPAR antibody","HP:5000001"]
["Anti-Amphiphysin antibody","HP:5000002"]
["Anti-ARHGAP26 antibody","HP:5000003"]
["Anti-CARP VIII antibody","HP:5000004"]
["Anti-CASPR2","HP:5000005"]
["Anti-CV2/CRMP5 antibody","HP:5000006"]
["Anti-DPPX antibody","HP:5000007"]
["Anti-FGFR3 antibody","HP:5000008"]
["Anti-GABA(A)R antibody","HP:5000009"]
["Anti-GABA(B)R antibody","HP:5000010"]
["Anti-GAD65 antibody","HP:5000011"]
["Anti-Gephyrin antibody","HP:5000012"]
["Anti-GFAP antibody","HP:5000013"]
["Anti-GlyR antibody","HP:5000014"]
["Anti-Homer-3 antibody","HP:5000015"]
["Anti-Hu antibody","HP:5000016"]
["Anti-Iglon5 antibody","HP:5000017"]
["Anti-ITPR1 antibody","HP:5000018"]
["Anti-KLHL11 antibody","HP:5000019"]
["Anti-LGI1 antibody","HP:5000020"]
["Anti-Ma antibody","HP:5000021"]
["Anti-Ma2 antibody","HP:5000022"]
["Anti-Ma1 antibody","HP:5000023"]
["Anti-mGluR1 antibody","HP:5000024"]
["Anti-mGluR5 antibody","HP:5000025"]
["Anti-neurexin-3alpha antibody","HP:5000026"]
["Anti-P/Q-type VGCC antibody","HP:5000027"]
["Anti-MAP1B antibody","HP:5000028"]
["Anti-PKCgamma antibody","HP:5000029"]
["Anti-Ri antibody","HP:5000030"]
["Anti-Septin-5 antibody","HP:5000031"]
["Anti-SEZ6L2 antibody","HP:5000032"]
["Anti-SOX1 antibody","HP:5000033"]
["Anti-Tr/DNER antibody","HP:5000034"]
["Anti-TRIM46 antibody","HP:5000035"]
["Anti-TRIM9/TRIM67 antibody","HP:5000036"]
["Anti-Yo antibody","HP:5000037"]
["Anti-titin antibody","HP:5000038"]
["Anti-Zic4 antibody","HP:5000039"]
["Anti-CRMP5 antibody","HP:5000041"]
["Anti-Sj/ITPR1 antibody","HP:5000042"]
["Anti-D2 R antibody","HP:5000043"]
["Anti-GluK2 antibody","HP:5000044"]
["Anti-MuSK antibody","HP:5000045"]
["Anti-Lrp4 antibody","HP:5000046"]
["Anti-ryanodine receptor antibody","HP:5000047"]
["Anti-Kv1.4 antibody","HP:5000048"]
["Abnormality of speech or vocalization","HP:0002167"]

{"sheet":"Back_End","index":16,"n_rows":14,"n_cols":14,"rows_kept":14,"cut":false,"hidden":true,"merged":[]}
[null,"M","Known","Mother","Affected","Add a family member to analysis","AB",true,null,null,null,null,null,0]
["Panel","F","Unknown","Father","Not affected","Add new genes of interest","BC",false,null,null,"Panel"]
["Singleton","Ambiguous","Possible","Sibling","Partially affected","Add new phenotypic information","MB",null,null,null,"Singleton - Exome"]
["Duo",null,"None","Other","Uncertain","Reanalysis","NB",null,null,null,"Duo - Exome"]
["Trio ",null,null,null,null,"Other","NL",null,null,null,"Trio - Exome"]
["Other",null,null,null,null,null,"NS",null,null,null,"Other - Exome"]
[null,null,null,null,null,null,"ON"]
[null,null,null,null,null,null,"PE"]
[null,null,null,null,null,null,"QC"]
[null,null,null,null,null,null,"SK"]
[null,null,null,null,null,null,"NT"]
[null,null,null,null,null,null,"NU"]
[null,null,null,null,null,null,"YT"]
[null,null,null,null,null,null,"Other"]