Human Phenotype Ontology 
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Abnormality of the digestive system (HP:0025031)help
Parent Node:
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Abnormality of digestive system physiology (HP:0025032)help
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Abnormality of hepatobiliary system physiology (HP:0025155)help
Term ID: 25155
Name: Abnormality of hepatobiliary system physiology
Synonym:
Definition: A functional anomaly of the hepatobiliary system
Comments:
Reference: HP:0025155
Genes and Diseases:
 
       Child Nodes:
........expandDecreased liver function (HP:0001410) help
................... HP:0001399 Hepatic failure
........expandDecreased mitochondrial complex III activity in liver tissue (HP:0006558) help
........expandReye syndrome-like episodes (HP:0006582) help

 Sister Nodes: 
..expandAbdominal symptom (HP:0011458) help
..expandAbnormal large intestine physiology (HP:0012700) help
..expandDependency on intravenous nutrition (HP:0025156) help
..expandFunctional abnormality of the gastrointestinal tract (HP:0012719) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0ABCD3 CL E G H582567OMIM:616278BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5; CBAS55
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0ACAD9 CL E G H2897621497ORPHA:99901Acyl-CoA dehydrogenase 9 deficiency98
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0ACAD9 CL E G H2897621497OMIM:611126Mitochondrial complex I deficiency due to acad9 deficiency98
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0ACADM CL E G H3489ORPHA:42Medium chain acyl-CoA dehydrogenase deficiency197
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0ACTG2 CL E G H72145OMIM:619431MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 5; MMIHS523
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0ACVRL1 CL E G H94175ORPHA:774Hereditary hemorrhagic telangiectasia178
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0AKR1D1 CL E G H6718388OMIM:235555Bile acid synthesis defect, congenital, 262
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0AKR1D1 CL E G H6718388ORPHA:79303Congenital bile acid synthesis defect type 262
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0ALDOB CL E G H229417ORPHA:469Hereditary fructose intolerance73
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0ALG1 CL E G H5605218294ORPHA:79327ALG1-CDG58
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0ALG3 CL E G H1019523056ORPHA:79321ALG3-CDG37
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0ALG8 CL E G H7905323161OMIM:608104Congenital disorder of glycosylation, type Ih46
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0ALMS1 CL E G H7840428ORPHA:64Alström syndrome404
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0AMACR CL E G H23600451OMIM:214950Bile acid synthesis defect, congenital, 444
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0ASAH1 CL E G H427735ORPHA:333Farber disease78
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0ASXL1 CL E G H17102318318ORPHA:98850Aggressive systemic mastocytosis145
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0ATP6 CL E G H45087414ORPHA:255210Mitochondrial DNA-associated Leigh syndrome
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0ATP6AP2 CL E G H1015918305OMIM:301045CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIr; CDG2R36
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0ATP7B CL E G H540870OMIM:277900Wilson disease315
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0ATP7B CL E G H540870ORPHA:905Wilson disease315
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0ATRX CL E G H546886ORPHA:100075Neuroendocrine tumor of stomach169
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0BAAT CL E G H570932OMIM:619232BILE ACID CONJUGATION DEFECT 1; BACD163
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0BCS1L CL E G H6171020OMIM:124000Mitochondrial complex III deficiency, nuclear type 172
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0BLVRA CL E G H6441062OMIM:614156Hyperbiliverdinemia2
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0BMP6 CL E G H6541073ORPHA:465508Symptomatic form of hemochromatosis type 1
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0BTNL2 CL E G H562441142ORPHA:797Sarcoidosis1
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0CACNA1S CL E G H7791397ORPHA:423Malignant hyperthermia of anesthesia247
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0CALR CL E G H8111455ORPHA:131Budd-Chiari syndrome1
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0CBL CL E G H8671541ORPHA:98850Aggressive systemic mastocytosis317
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0CC2D2A CL E G H5754529253ORPHA:1454Joubert syndrome with hepatic defect247
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0CCDC115 CL E G H8431728178OMIM:616828Congenital disorder of glycosylation, type IIO3
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0CCDC47 CL E G H5700324856OMIM:618268Trichohepatoneurodevelopmental syndrome
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0CEP164 CL E G H2289729182OMIM:614845Nephronophthisis 1534
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0COA8 CL E G H8433420492ORPHA:436271Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0COG2 CL E G H227966546ORPHA:435934COG2-CDG2
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0COG4 CL E G H2583918620ORPHA:263501COG4-CDG67
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0COG4 CL E G H2583918620OMIM:613489Congenital disorder of glycosylation, type IIj67
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0COG7 CL E G H9194918622OMIM:608779Congenital disorder of glycosylation, type IIe64
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0COQ2 CL E G H2723525223OMIM:607426Coenzyme Q10 deficiency, primary, 154
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0COX16 CL E G H5124120213OMIM:619355MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22; MC4DN22
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0CPT1A CL E G H13742328ORPHA:156Carnitine palmitoyl transferase 1A deficiency99
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0CPT2 CL E G H13762330ORPHA:228308Carnitine palmitoyl transferase II deficiency, neonatal form101
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0CPT2 CL E G H13762330ORPHA:228305Carnitine palmitoyl transferase II deficiency, severe infantile form101
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0CTC1 CL E G H8016926169ORPHA:1775Dyskeratosis congenita160
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0CYC1 CL E G H15372579OMIM:615453Mitochondrial complex III deficiency, nuclear type 612
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0CYP7B1 CL E G H94202652OMIM:613812Bile acid synthesis defect, congenital, 357
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0CYP7B1 CL E G H94202652ORPHA:79302Congenital bile acid synthesis defect type 357
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0DAXX CL E G H16162681ORPHA:100075Neuroendocrine tumor of stomach
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0DCDC2 CL E G H5147318141OMIM:617394Sclerosing cholangitis, neonatal8
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0DDOST CL E G H16502728OMIM:614507Congenital disorder of glycosylation, type IR62
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0DEF6 CL E G H506192760OMIM:619573IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0DGUOK CL E G H17162858OMIM:251880Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)57
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0DKC1 CL E G H17362890ORPHA:1775Dyskeratosis congenita65
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0DLD CL E G H17382898OMIM:246900Dihydrolipoamide dehydrogenase deficiency89
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0DLD CL E G H17382898ORPHA:2394Pyruvate dehydrogenase E3 deficiency89
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0EIF2AK3 CL E G H94513255ORPHA:1667Wolcott-Rallison syndrome65
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0ENG CL E G H20223349ORPHA:774Hereditary hemorrhagic telangiectasia186
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0EPM2A CL E G H79573413ORPHA:501Lafora disease83
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0EPM2A CL E G H79573413OMIM:254780Myoclonic epilepsy of lafora83
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0F13A1 CL E G H21623531ORPHA:331Congenital factor XIII deficiency60
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0F13B CL E G H21653534ORPHA:331Congenital factor XIII deficiency32
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0F5 CL E G H21533542ORPHA:131Budd-Chiari syndrome159
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0FADD CL E G H87723573ORPHA:306550FADD-related immunodeficiency3
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0FAH CL E G H21843579ORPHA:882Tyrosinemia type 1107
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0FAH CL E G H21843579OMIM:276700Tyrosinemia, type I107
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0FARSB CL E G H1005617800OMIM:613658Rajab interstitial lung disease with brain calcifications
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0FBP1 CL E G H22033606ORPHA:348Fructose-1,6-bisphosphatase deficiency64
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0FECH CL E G H22353647ORPHA:79278Autosomal erythropoietic protoporphyria145
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0FECH CL E G H22353647OMIM:177000Protoporphyria, erythropoietic, 1145
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0FH CL E G H22713700OMIM:606812Fumarase deficiency301
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0FOCAD CL E G H5491423377OMIM:6199913
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0GALM CL E G H13058924063ORPHA:570422Galactose mutarotase deficiency
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0GALT CL E G H25924135ORPHA:79239Classic galactosemia351
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0GALT CL E G H25924135OMIM:230400GALACTOSEMIA351
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0GANAB CL E G H231934138OMIM:600666Polycystic kidney disease 36
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0GATC CL E G H28345925068OMIM:618839COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 42; COXPD421
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0GBA1 CL E G H26294177OMIM:608013Gaucher disease, perinatal lethal
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0GBE1 CL E G H26324180OMIM:232500Glycogen storage disease IV86
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0GDF2 CL E G H26584217ORPHA:774Hereditary hemorrhagic telangiectasia8
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0GFM1 CL E G H8547613780OMIM:609060Combined oxidative phosphorylation deficiency 185
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0GPR35 CL E G H28594492ORPHA:171Primary sclerosing cholangitis2
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0H4C3 CL E G H83644787OMIM:619758TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0HADH CL E G H30334799OMIM:2315303-Hydroxyacyl-Coa dehydrogenase deficiency41
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0HADH CL E G H30334799ORPHA:71212Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency41
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0HADHA CL E G H30304801ORPHA:746Mitochondrial trifunctional protein deficiency99
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0HADHB CL E G H30324803ORPHA:746Mitochondrial trifunctional protein deficiency60
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0HBB CL E G H30434827ORPHA:231222Beta-thalassemia intermedia580
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0HFE CL E G H30774886ORPHA:465508Symptomatic form of hemochromatosis type 138
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0HLA-B CL E G H31064932ORPHA:397Giant cell arteritis4
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0HLA-B CL E G H31064932ORPHA:36426Stevens-Johnson syndrome4
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0HLA-DRB1 CL E G H31234948ORPHA:397Giant cell arteritis2
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0HLA-DRB1 CL E G H31234948ORPHA:797Sarcoidosis2
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0HMGCL CL E G H31555005ORPHA:203-hydroxy-3-methylglutaric aciduria35
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0HSD3B7 CL E G H8027018324OMIM:607765Bile acid synthesis defect, congenital, 126
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0IARS1 CL E G H33765330ORPHA:541423Growth delay-intellectual disability-hepatopathy syndrome
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0IARS1 CL E G H33765330OMIM:617093Growth retardation, impaired intellectual development, hypotonia, and hepatopathy
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0IFT122 CL E G H5576413556OMIM:218330Cranioectodermal dysplasia93
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0IFT172 CL E G H2616030391OMIM:615630Short-Rib thoracic dysplasia 10 with or without polydactyly48
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0IKZF1 CL E G H1032013176ORPHA:36426Stevens-Johnson syndrome8
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0IL12A CL E G H35925969ORPHA:186Primary biliary cholangitis
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0IL12RB1 CL E G H35945971ORPHA:186Primary biliary cholangitis46
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0IL18BP CL E G H100685987OMIM:618549HEPATITIS, FULMINANT VIRAL, SUSCEPTIBILITY TO; FVH
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0IL21R CL E G H506156006OMIM:615207IMMUNODEFICIENCY 56; IMD567
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0INPP5E CL E G H5662321474ORPHA:1454Joubert syndrome with hepatic defect111
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0IRF5 CL E G H36636120ORPHA:186Primary biliary cholangitis4
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0ITCH CL E G H8373713890ORPHA:228426Syndromic multisystem autoimmune disease due to Itch deficiency3
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0JAG1 CL E G H1826188OMIM:118450Alagille syndrome 1257
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0JAK2 CL E G H37176192ORPHA:131Budd-Chiari syndrome57
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0KRT18 CL E G H38756430OMIM:215600Cirrhosis, familial19
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0LARS1 CL E G H515206512OMIM:615438Infantile liver failure syndrome 1
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0LARS2 CL E G H2339517095OMIM:617021Hydrops, lactic acidosis, and sideroblastic anemia54
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0LIPA CL E G H39886617ORPHA:75234Cholesteryl ester storage disease73
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0LIPA CL E G H39886617OMIM:278000Lysosomal acid lipase deficiency73
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0LIPA CL E G H39886617ORPHA:75233Wolman disease73
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0LIPT1 CL E G H5160129569OMIM:616299Lipoyltransferase 1 deficiency21
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0LRPPRC CL E G H1012815714ORPHA:70472Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type191
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0LYST CL E G H11301968ORPHA:167Chédiak-Higashi syndrome239
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0MARS1 CL E G H41416898OMIM:615486Interstitial lung and liver disease
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0MED12 CL E G H996811957OMIM:301068HARDIKAR SYNDROME; HDKR228
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0MEFV CL E G H42106998ORPHA:342Familial Mediterranean fever281
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0MICOS13 CL E G H12598833702OMIM:618329COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0MMEL1 CL E G H7925814668ORPHA:186Primary biliary cholangitis
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0MPI CL E G H43517216OMIM:602579Congenital disorder of glycosylation, type Ib51
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0MPI CL E G H43517216ORPHA:79319MPI-CDG51
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0MPV17 CL E G H43587224OMIM:256810Navajo neurohepatopathy56
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0MRM2 CL E G H2996016352OMIM:618567MITOCHONDRIAL DNA DEPLETION SYNDROME 17; MTDPS17
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0MRPS23 CL E G H5164914509OMIM:618952COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 46; COXPD46
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0MRPS7 CL E G H5108114499OMIM:617872Combined oxidative phosphorylation deficiency 3412
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0MST1 CL E G H44857380ORPHA:171Primary sclerosing cholangitis1
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0NAGS CL E G H16241717996ORPHA:927Hyperammonemia due to N-acetylglutamate synthase deficiency36
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0NBAS CL E G H5159415625OMIM:616483INFANTILE LIVER FAILURE SYNDROME 2; ILFS225
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0ND1 CL E G H45357455ORPHA:255210Mitochondrial DNA-associated Leigh syndrome
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0ND2 CL E G H45367456ORPHA:255210Mitochondrial DNA-associated Leigh syndrome
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0ND3 CL E G H45377458ORPHA:255210Mitochondrial DNA-associated Leigh syndrome
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0ND4 CL E G H45387459ORPHA:255210Mitochondrial DNA-associated Leigh syndrome
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0ND5 CL E G H45407461ORPHA:255210Mitochondrial DNA-associated Leigh syndrome
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0ND6 CL E G H45417462ORPHA:255210Mitochondrial DNA-associated Leigh syndrome
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0NDUFAF3 CL E G H2591529918ORPHA:70474Leigh syndrome with cardiomyopathy31
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0NDUFB8 CL E G H47147703ORPHA:70474Leigh syndrome with cardiomyopathy
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0NDUFS2 CL E G H47207708ORPHA:70474Leigh syndrome with cardiomyopathy65
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0NDUFS4 CL E G H47247711OMIM:252010Mitochondrial complex I deficiency, nuclear type 127
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0NHLRC1 CL E G H37888421576ORPHA:501Lafora disease77
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0NHLRC1 CL E G H37888421576OMIM:254780Myoclonic epilepsy of lafora77
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0NHP2 CL E G H5565114377ORPHA:1775Dyskeratosis congenita27
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0NOP10 CL E G H5550514378ORPHA:1775Dyskeratosis congenita17
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0NPC1 CL E G H48647897OMIM:257220Niemann-pick disease, type C1258
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0NPM1 CL E G H48697910ORPHA:1775Dyskeratosis congenita12
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0NR1H4 CL E G H99717967OMIM:617049CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5; PFIC514
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0OCLN CL E G H1005066588104OMIM:251290Band-Like calcification with simplified gyration and polymicrogyria23
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0OSTM1 CL E G H2896221652OMIM:259720Osteopetrosis, autosomal recessive 573
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0OTC CL E G H50098512ORPHA:664Ornithine transcarbamylase deficiency369
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0P4HA2 CL E G H89748547ORPHA:397Giant cell arteritis3
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0PARN CL E G H50738609ORPHA:1775Dyskeratosis congenita26
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0PARS2 CL E G H2597330563OMIM:618437Epileptic encephalopathy, early infantile, 7514
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0PCK1 CL E G H51058724OMIM:261680Phosphoenolpyruvate carboxykinase deficiency, cytosolic53
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0PCK2 CL E G H51068725OMIM:261650Phosphoenolpyruvate carboxykinase 2, mitochondrial6
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0PEX1 CL E G H51898850ORPHA:912Zellweger syndrome169
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0PEX10 CL E G H51928851OMIM:614870Peroxisome biogenesis disorder 6A (Zellweger)75
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0PEX10 CL E G H51928851OMIM:614871Peroxisome biogenesis disorder 6B75
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0PEX10 CL E G H51928851ORPHA:912Zellweger syndrome75
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0PEX11B CL E G H87998853ORPHA:912Zellweger syndrome4
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0PEX12 CL E G H51938854ORPHA:912Zellweger syndrome65
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0PEX13 CL E G H51948855OMIM:614883Peroxisome biogenesis disorder 11A (Zellweger)66
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0PEX13 CL E G H51948855ORPHA:912Zellweger syndrome66
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0PEX14 CL E G H51958856ORPHA:912Zellweger syndrome46
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0PEX16 CL E G H94098857OMIM:614877Peroxisome biogenesis disorder 8B59
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0PEX16 CL E G H94098857ORPHA:912Zellweger syndrome59
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0PEX19 CL E G H58249713OMIM:614886Peroxisome biogenesis disorder 12A (Zellweger)62
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0PEX19 CL E G H58249713ORPHA:912Zellweger syndrome62
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0PEX2 CL E G H58289717OMIM:614867Peroxisome biogenesis disorder 5B82
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0PEX2 CL E G H58289717ORPHA:912Zellweger syndrome82
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0PEX26 CL E G H5567022965OMIM:614873Peroxisome biogenesis disorder 7B106
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0PEX26 CL E G H5567022965ORPHA:912Zellweger syndrome106
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0PEX3 CL E G H85048858ORPHA:912Zellweger syndrome47
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0PEX5 CL E G H58309719ORPHA:912Zellweger syndrome99
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0PEX6 CL E G H51908859OMIM:614863Peroxisome biogenesis disorder 4B98
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0PEX6 CL E G H51908859ORPHA:912Zellweger syndrome98
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0PIGA CL E G H52778957OMIM:301072NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH46
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0PNPT1 CL E G H8717823166OMIM:614932Combined oxidative phosphorylation deficiency 1360
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0POLG CL E G H54289179OMIM:203700Mitochondrial DNA depletion syndrome 4A (Alpers type)464
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0POLG2 CL E G H112329180OMIM:618528Mitochondrial DNA depletion syndrome 16 (hepatic type)45
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0PORCN CL E G H6484017652ORPHA:2092Focal dermal hypoplasia20
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0POU2AF1 CL E G H54509211ORPHA:186Primary biliary cholangitis
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0PRF1 CL E G H55519360ORPHA:540Familial hemophagocytic lymphohistiocytosis58
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0PTPN22 CL E G H261919652ORPHA:397Giant cell arteritis3
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0QRSL1 CL E G H5527821020OMIM:618835COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 40; COXPD40
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0RINT1 CL E G H6056121876OMIM:618641INFANTILE LIVER FAILURE SYNDROME 3; ILFS399
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0RMND1 CL E G H5500521176OMIM:614922Combined oxidative phosphorylation deficiency 1126
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0RNU12 CL E G H26701019380ORPHA:512260Congenital cerebellar ataxia due to RNU12 mutation
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0RPGRIP1L CL E G H2332229168ORPHA:1454Joubert syndrome with hepatic defect167
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0RTEL1 CL E G H5175015888ORPHA:1775Dyskeratosis congenita77
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0RUNX1 CL E G H86110471ORPHA:98850Aggressive systemic mastocytosis181
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0RYR1 CL E G H626110483ORPHA:466650Exercise-induced malignant hyperthermia1200
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0RYR1 CL E G H626110483ORPHA:423Malignant hyperthermia of anesthesia1200
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0SC5D CL E G H630910547ORPHA:46059Lathosterolosis80
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0SCO2 CL E G H999710604ORPHA:70474Leigh syndrome with cardiomyopathy40
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0SCYL1 CL E G H5741014372ORPHA:466794Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome5
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0SCYL1 CL E G H5741014372OMIM:616719Spinocerebellar ataxia, autosomal recessive 215
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0SEMA4D CL E G H1050710732ORPHA:171Primary sclerosing cholangitis
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0SERPINA1 CL E G H52658941ORPHA:60Alpha-1-antitrypsin deficiency131
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0SH2D1A CL E G H406810820OMIM:308240Lymphoproliferative syndrome, X-linked, 137
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0SKIC3 CL E G H965223639OMIM:222470Trichohepatoenteric syndrome 1
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0SLC25A15 CL E G H1016610985OMIM:238970Hyperornithinemia-Hyperammonemia-Homocitrullinuria syndrome88
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0SLC25A15 CL E G H1016610985ORPHA:415Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome88
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0SLC25A20 CL E G H7881421ORPHA:159Carnitine-acylcarnitine translocase deficiency40
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0SLC2A2 CL E G H651411006ORPHA:2088Fanconi-Bickel syndrome71
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0SLC30A10 CL E G H5553225355OMIM:613280Hypermanganesemia with dystonia 142
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0SLC39A8 CL E G H6411620862ORPHA:468699SLC39A8-CDG11
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0SLC7A7 CL E G H905611065ORPHA:470Lysinuric protein intolerance104
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0SMAD4 CL E G H40896770ORPHA:774Hereditary hemorrhagic telangiectasia504
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0SMPD1 CL E G H660911120ORPHA:77293Niemann-Pick disease type B164
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0SP110 CL E G H34315401ORPHA:79124Hepatic veno-occlusive disease-immunodeficiency syndrome49
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0SPIB CL E G H668911242ORPHA:186Primary biliary cholangitis
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0SRSF2 CL E G H642710783ORPHA:98850Aggressive systemic mastocytosis1
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0STX11 CL E G H867611429ORPHA:540Familial hemophagocytic lymphohistiocytosis85
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0STXBP2 CL E G H681311445ORPHA:540Familial hemophagocytic lymphohistiocytosis70
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0SURF1 CL E G H683411474ORPHA:70474Leigh syndrome with cardiomyopathy73
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0SURF1 CL E G H683411474OMIM:220110Mitochondrial complex IV deficiency73
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0TALDO1 CL E G H688811559OMIM:606003Transaldolase deficiency34
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0TCF4 CL E G H692511634ORPHA:171Primary sclerosing cholangitis241
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0TERC CL E G H701211727ORPHA:1775Dyskeratosis congenita48
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0TERT CL E G H701511730ORPHA:1775Dyskeratosis congenita238
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0TET2 CL E G H5479025941ORPHA:98850Aggressive systemic mastocytosis3
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0TFAM CL E G H701911741OMIM:617156Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)1
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0TINF2 CL E G H2627711824ORPHA:1775Dyskeratosis congenita60
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0TJP2 CL E G H941411828OMIM:615878CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 4; PFIC4149
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0TMEM199 CL E G H14700718085OMIM:616829Congenital disorder of glycosylation, type IIP4
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0TMEM67 CL E G H9114728396ORPHA:1454Joubert syndrome with hepatic defect166
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0TNFSF15 CL E G H996611931ORPHA:186Primary biliary cholangitis
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0TNPO3 CL E G H2353417103ORPHA:186Primary biliary cholangitis71
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0TRMT10C CL E G H5493126022OMIM:616974Combined oxidative phosphorylation deficiency 303
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0TRMU CL E G H5568725481OMIM:613070Liver failure, infantile, transient101
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0TRNK CL E G H45667489ORPHA:255210Mitochondrial DNA-associated Leigh syndrome
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0TRNL1 CL E G H45677490ORPHA:255210Mitochondrial DNA-associated Leigh syndrome
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0TRNN CL E G H45707493OMIM:220110Mitochondrial complex IV deficiency
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0TRNS1 CL E G H45747497OMIM:220110Mitochondrial complex IV deficiency
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0TRNT CL E G H45767499ORPHA:254857Lethal infantile mitochondrial myopathy
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0TRNV CL E G H45777500ORPHA:255210Mitochondrial DNA-associated Leigh syndrome
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0TRNW CL E G H45787501ORPHA:255210Mitochondrial DNA-associated Leigh syndrome
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0TYMS CL E G H729812441ORPHA:1775Dyskeratosis congenita1
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0UBR1 CL E G H19713116808OMIM:243800Johanson-Blizzard syndrome25
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0UNC13D CL E G H20129423147ORPHA:540Familial hemophagocytic lymphohistiocytosis116
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0UQCRC2 CL E G H738512586OMIM:615160Mitochondrial complex III deficiency, nuclear type 517
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0USB1 CL E G H7965025792ORPHA:1775Dyskeratosis congenita8
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0VPS51 CL E G H7381172OMIM:618606PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0WRAP53 CL E G H5513525522ORPHA:1775Dyskeratosis congenita40
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0XIAP CL E G H331592OMIM:308240Lymphoproliferative syndrome, X-linked, 181
HP:0025155HP:0025155Abnormality of hepatobiliary system physiology0ZNFX1 CL E G H5716929271OMIM:619644IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91
HP:0025155HP:0001410Decreased liver function1ABCD3 CL E G H582567OMIM:616278BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5; CBAS55
HP:0025155HP:0001410Decreased liver function1ACAD9 CL E G H2897621497ORPHA:99901Acyl-CoA dehydrogenase 9 deficiency98
HP:0025155HP:0001410Decreased liver function1ACAD9 CL E G H2897621497OMIM:611126Mitochondrial complex I deficiency due to acad9 deficiency98
HP:0025155HP:0001410Decreased liver function1ACADM CL E G H3489ORPHA:42Medium chain acyl-CoA dehydrogenase deficiencyHP:0040282 - Frequent197
HP:0025155HP:0001410Decreased liver function1ACTG2 CL E G H72145OMIM:619431MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 5; MMIHS523
HP:0025155HP:0001410Decreased liver function1ACVRL1 CL E G H94175ORPHA:774Hereditary hemorrhagic telangiectasia178
HP:0025155HP:0001410Decreased liver function1AKR1D1 CL E G H6718388OMIM:235555Bile acid synthesis defect, congenital, 262
HP:0025155HP:0001410Decreased liver function1AKR1D1 CL E G H6718388ORPHA:79303Congenital bile acid synthesis defect type 262
HP:0025155HP:0001410Decreased liver function1ALDOB CL E G H229417ORPHA:469Hereditary fructose intolerance73
HP:0025155HP:0001410Decreased liver function1ALG1 CL E G H5605218294ORPHA:79327ALG1-CDGHP:0040283 - Occasional58
HP:0025155HP:0001410Decreased liver function1ALG3 CL E G H1019523056ORPHA:79321ALG3-CDGHP:0040282 - Frequent37
HP:0025155HP:0001410Decreased liver function1ALG8 CL E G H7905323161OMIM:608104Congenital disorder of glycosylation, type Ih.46
HP:0025155HP:0001410Decreased liver function1ALMS1 CL E G H7840428ORPHA:64Alström syndrome404
HP:0025155HP:0001410Decreased liver function1AMACR CL E G H23600451OMIM:214950Bile acid synthesis defect, congenital, 444
HP:0025155HP:0001410Decreased liver function1ASAH1 CL E G H427735ORPHA:333Farber disease78
HP:0025155HP:0001410Decreased liver function1ASXL1 CL E G H17102318318ORPHA:98850Aggressive systemic mastocytosisHP:0040283 - Occasional145
HP:0025155HP:0001410Decreased liver function1ATP6 CL E G H45087414ORPHA:255210Mitochondrial DNA-associated Leigh syndrome
HP:0025155HP:0001410Decreased liver function1ATP6AP2 CL E G H1015918305OMIM:301045CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIr; CDG2R36
HP:0025155HP:0001410Decreased liver function1ATP7B CL E G H540870ORPHA:905Wilson disease315
HP:0025155HP:0001410Decreased liver function1ATP7B CL E G H540870OMIM:277900Wilson disease315
HP:0025155HP:0001410Decreased liver function1ATRX CL E G H546886ORPHA:100075Neuroendocrine tumor of stomach169
HP:0025155HP:0001410Decreased liver function1BAAT CL E G H570932OMIM:619232BILE ACID CONJUGATION DEFECT 1; BACD163
HP:0025155HP:0006558Decreased mitochondrial complex III activity in liver tissue1BCS1L CL E G H6171020OMIM:124000Mitochondrial complex III deficiency, nuclear type 1.72
HP:0025155HP:0001410Decreased liver function1BCS1L CL E G H6171020OMIM:124000Mitochondrial complex III deficiency, nuclear type 1.72
HP:0025155HP:0001410Decreased liver function1BLVRA CL E G H6441062OMIM:614156Hyperbiliverdinemia.2
HP:0025155HP:0001410Decreased liver function1BMP6 CL E G H6541073ORPHA:465508Symptomatic form of hemochromatosis type 1
HP:0025155HP:0001410Decreased liver function1BTNL2 CL E G H562441142ORPHA:797SarcoidosisHP:0040282 - Frequent1
HP:0025155HP:0001410Decreased liver function1CACNA1S CL E G H7791397ORPHA:423Malignant hyperthermia of anesthesia247
HP:0025155HP:0001410Decreased liver function1CALR CL E G H8111455ORPHA:131Budd-Chiari syndrome1
HP:0025155HP:0001410Decreased liver function1CBL CL E G H8671541ORPHA:98850Aggressive systemic mastocytosisHP:0040283 - Occasional317
HP:0025155HP:0001410Decreased liver function1CC2D2A CL E G H5754529253ORPHA:1454Joubert syndrome with hepatic defect247
HP:0025155HP:0001410Decreased liver function1CCDC115 CL E G H8431728178OMIM:616828Congenital disorder of glycosylation, type IIO3
HP:0025155HP:0001410Decreased liver function1CCDC47 CL E G H5700324856OMIM:618268Trichohepatoneurodevelopmental syndrome.
HP:0025155HP:0001410Decreased liver function1CEP164 CL E G H2289729182OMIM:614845Nephronophthisis 1534
HP:0025155HP:0001410Decreased liver function1COA8 CL E G H8433420492ORPHA:436271Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathyHP:0040282 - Frequent
HP:0025155HP:0001410Decreased liver function1COG2 CL E G H227966546ORPHA:435934COG2-CDGHP:0040281 - Very frequent2
HP:0025155HP:0001410Decreased liver function1COG4 CL E G H2583918620ORPHA:263501COG4-CDG67
HP:0025155HP:0001410Decreased liver function1COG4 CL E G H2583918620OMIM:613489Congenital disorder of glycosylation, type IIj67
HP:0025155HP:0001410Decreased liver function1COG7 CL E G H9194918622OMIM:608779Congenital disorder of glycosylation, type IIe.64
HP:0025155HP:0001410Decreased liver function1COQ2 CL E G H2723525223OMIM:607426Coenzyme Q10 deficiency, primary, 154
HP:0025155HP:0001410Decreased liver function1COX16 CL E G H5124120213OMIM:619355MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22; MC4DN22
HP:0025155HP:0001410Decreased liver function1CPT1A CL E G H13742328ORPHA:156Carnitine palmitoyl transferase 1A deficiency99
HP:0025155HP:0001410Decreased liver function1CPT2 CL E G H13762330ORPHA:228308Carnitine palmitoyl transferase II deficiency, neonatal form101
HP:0025155HP:0001410Decreased liver function1CPT2 CL E G H13762330ORPHA:228305Carnitine palmitoyl transferase II deficiency, severe infantile form101
HP:0025155HP:0001410Decreased liver function1CTC1 CL E G H8016926169ORPHA:1775Dyskeratosis congenita160
HP:0025155HP:0001410Decreased liver function1CYC1 CL E G H15372579OMIM:615453Mitochondrial complex III deficiency, nuclear type 612
HP:0025155HP:0001410Decreased liver function1CYP7B1 CL E G H94202652OMIM:613812Bile acid synthesis defect, congenital, 357
HP:0025155HP:0001410Decreased liver function1CYP7B1 CL E G H94202652ORPHA:79302Congenital bile acid synthesis defect type 357
HP:0025155HP:0001410Decreased liver function1DAXX CL E G H16162681ORPHA:100075Neuroendocrine tumor of stomach
HP:0025155HP:0001410Decreased liver function1DCDC2 CL E G H5147318141OMIM:617394Sclerosing cholangitis, neonatal8
HP:0025155HP:0001410Decreased liver function1DDOST CL E G H16502728OMIM:614507Congenital disorder of glycosylation, type IR.62
HP:0025155HP:0001410Decreased liver function1DEF6 CL E G H506192760OMIM:619573IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0025155HP:0001410Decreased liver function1DGUOK CL E G H17162858OMIM:251880Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)57
HP:0025155HP:0001410Decreased liver function1DKC1 CL E G H17362890ORPHA:1775Dyskeratosis congenita65
HP:0025155HP:0001410Decreased liver function1DLD CL E G H17382898OMIM:246900Dihydrolipoamide dehydrogenase deficiencyHP:0040283 - Occasional89
HP:0025155HP:0001410Decreased liver function1DLD CL E G H17382898ORPHA:2394Pyruvate dehydrogenase E3 deficiency89
HP:0025155HP:0001410Decreased liver function1EIF2AK3 CL E G H94513255ORPHA:1667Wolcott-Rallison syndrome65
HP:0025155HP:0001410Decreased liver function1ENG CL E G H20223349ORPHA:774Hereditary hemorrhagic telangiectasia186
HP:0025155HP:0001410Decreased liver function1EPM2A CL E G H79573413ORPHA:501Lafora disease83
HP:0025155HP:0001410Decreased liver function1EPM2A CL E G H79573413OMIM:254780Myoclonic epilepsy of lafora83
HP:0025155HP:0001410Decreased liver function1F13A1 CL E G H21623531ORPHA:331Congenital factor XIII deficiency60
HP:0025155HP:0001410Decreased liver function1F13B CL E G H21653534ORPHA:331Congenital factor XIII deficiency32
HP:0025155HP:0001410Decreased liver function1F5 CL E G H21533542ORPHA:131Budd-Chiari syndrome159
HP:0025155HP:0001410Decreased liver function1FADD CL E G H87723573ORPHA:306550FADD-related immunodeficiencyHP:0040280 - Obligate3
HP:0025155HP:0001410Decreased liver function1FAH CL E G H21843579ORPHA:882Tyrosinemia type 1107
HP:0025155HP:0001410Decreased liver function1FAH CL E G H21843579OMIM:276700Tyrosinemia, type I107
HP:0025155HP:0001410Decreased liver function1FARSB CL E G H1005617800OMIM:613658Rajab interstitial lung disease with brain calcifications
HP:0025155HP:0006582Reye syndrome-like episodes1FBP1 CL E G H22033606ORPHA:348Fructose-1,6-bisphosphatase deficiencyHP:0040283 - Occasional64
HP:0025155HP:0001410Decreased liver function1FECH CL E G H22353647ORPHA:79278Autosomal erythropoietic protoporphyriaHP:0040283 - Occasional145
HP:0025155HP:0001410Decreased liver function1FECH CL E G H22353647OMIM:177000Protoporphyria, erythropoietic, 1145
HP:0025155HP:0001410Decreased liver function1FH CL E G H22713700OMIM:606812Fumarase deficiency301
HP:0025155HP:0001410Decreased liver function1FOCAD CL E G H5491423377OMIM:6199913
HP:0025155HP:0001410Decreased liver function1GALM CL E G H13058924063ORPHA:570422Galactose mutarotase deficiencyHP:0040283 - Occasional
HP:0025155HP:0001410Decreased liver function1GALT CL E G H25924135ORPHA:79239Classic galactosemia351
HP:0025155HP:0001410Decreased liver function1GALT CL E G H25924135OMIM:230400GALACTOSEMIA.351
HP:0025155HP:0001410Decreased liver function1GANAB CL E G H231934138OMIM:600666Polycystic kidney disease 3HP:0040283 - Occasional6
HP:0025155HP:0001410Decreased liver function1GATC CL E G H28345925068OMIM:618839COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 42; COXPD421
HP:0025155HP:0001410Decreased liver function1GBA1 CL E G H26294177OMIM:608013Gaucher disease, perinatal lethal
HP:0025155HP:0001410Decreased liver function1GBE1 CL E G H26324180OMIM:232500Glycogen storage disease IV86
HP:0025155HP:0001410Decreased liver function1GDF2 CL E G H26584217ORPHA:774Hereditary hemorrhagic telangiectasia8
HP:0025155HP:0001410Decreased liver function1GFM1 CL E G H8547613780OMIM:609060Combined oxidative phosphorylation deficiency 185
HP:0025155HP:0001410Decreased liver function1GPR35 CL E G H28594492ORPHA:171Primary sclerosing cholangitis2
HP:0025155HP:0001410Decreased liver function1H4C3 CL E G H83644787OMIM:619758TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1
HP:0025155HP:0001410Decreased liver function1HADH CL E G H30334799OMIM:2315303-Hydroxyacyl-Coa dehydrogenase deficiency41
HP:0025155HP:0001410Decreased liver function1HADH CL E G H30334799ORPHA:71212Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency41
HP:0025155HP:0001410Decreased liver function1HADHA CL E G H30304801ORPHA:746Mitochondrial trifunctional protein deficiency99
HP:0025155HP:0001410Decreased liver function1HADHB CL E G H30324803ORPHA:746Mitochondrial trifunctional protein deficiency60
HP:0025155HP:0001410Decreased liver function1HBB CL E G H30434827ORPHA:231222Beta-thalassemia intermediaHP:0040283 - Occasional580
HP:0025155HP:0001410Decreased liver function1HFE CL E G H30774886ORPHA:465508Symptomatic form of hemochromatosis type 138
HP:0025155HP:0001410Decreased liver function1HLA-B CL E G H31064932ORPHA:397Giant cell arteritis4
HP:0025155HP:0001410Decreased liver function1HLA-B CL E G H31064932ORPHA:36426Stevens-Johnson syndrome4
HP:0025155HP:0001410Decreased liver function1HLA-DRB1 CL E G H31234948ORPHA:397Giant cell arteritis2
HP:0025155HP:0001410Decreased liver function1HLA-DRB1 CL E G H31234948ORPHA:797SarcoidosisHP:0040282 - Frequent2
HP:0025155HP:0006582Reye syndrome-like episodes1HMGCL CL E G H31555005ORPHA:203-hydroxy-3-methylglutaric aciduriaHP:0040282 - Frequent35
HP:0025155HP:0001410Decreased liver function1HSD3B7 CL E G H8027018324OMIM:607765Bile acid synthesis defect, congenital, 126
HP:0025155HP:0001410Decreased liver function1IARS1 CL E G H33765330ORPHA:541423Growth delay-intellectual disability-hepatopathy syndrome
HP:0025155HP:0001410Decreased liver function1IARS1 CL E G H33765330OMIM:617093Growth retardation, impaired intellectual development, hypotonia, and hepatopathyHP:0040283 - Occasional
HP:0025155HP:0001410Decreased liver function1IFT122 CL E G H5576413556OMIM:218330Cranioectodermal dysplasia93
HP:0025155HP:0001410Decreased liver function1IFT172 CL E G H2616030391OMIM:615630Short-Rib thoracic dysplasia 10 with or without polydactyly48
HP:0025155HP:0001410Decreased liver function1IKZF1 CL E G H1032013176ORPHA:36426Stevens-Johnson syndrome8
HP:0025155HP:0001410Decreased liver function1IL12A CL E G H35925969ORPHA:186Primary biliary cholangitis
HP:0025155HP:0001410Decreased liver function1IL12RB1 CL E G H35945971ORPHA:186Primary biliary cholangitis46
HP:0025155HP:0001410Decreased liver function1IL18BP CL E G H100685987OMIM:618549HEPATITIS, FULMINANT VIRAL, SUSCEPTIBILITY TO; FVH
HP:0025155HP:0001410Decreased liver function1IL21R CL E G H506156006OMIM:615207IMMUNODEFICIENCY 56; IMD567
HP:0025155HP:0001410Decreased liver function1INPP5E CL E G H5662321474ORPHA:1454Joubert syndrome with hepatic defect111
HP:0025155HP:0001410Decreased liver function1IRF5 CL E G H36636120ORPHA:186Primary biliary cholangitis4
HP:0025155HP:0001410Decreased liver function1ITCH CL E G H8373713890ORPHA:228426Syndromic multisystem autoimmune disease due to Itch deficiency3
HP:0025155HP:0001410Decreased liver function1JAG1 CL E G H1826188OMIM:118450Alagille syndrome 1257
HP:0025155HP:0001410Decreased liver function1JAK2 CL E G H37176192ORPHA:131Budd-Chiari syndrome57
HP:0025155HP:0001410Decreased liver function1KRT18 CL E G H38756430OMIM:215600Cirrhosis, familial19
HP:0025155HP:0001410Decreased liver function1LARS1 CL E G H515206512OMIM:615438Infantile liver failure syndrome 1
HP:0025155HP:0001410Decreased liver function1LARS2 CL E G H2339517095OMIM:617021Hydrops, lactic acidosis, and sideroblastic anemia.54
HP:0025155HP:0001410Decreased liver function1LIPA CL E G H39886617ORPHA:75234Cholesteryl ester storage disease73
HP:0025155HP:0001410Decreased liver function1LIPA CL E G H39886617OMIM:278000Lysosomal acid lipase deficiency73
HP:0025155HP:0001410Decreased liver function1LIPA CL E G H39886617ORPHA:75233Wolman disease73
HP:0025155HP:0001410Decreased liver function1LIPT1 CL E G H5160129569OMIM:616299Lipoyltransferase 1 deficiency.21
HP:0025155HP:0001410Decreased liver function1LRPPRC CL E G H1012815714ORPHA:70472Congenital lactic acidosis, Saguenay-Lac-Saint-Jean typeHP:0040282 - Frequent191
HP:0025155HP:0001410Decreased liver function1LYST CL E G H11301968ORPHA:167Chédiak-Higashi syndromeHP:0040282 - Frequent239
HP:0025155HP:0001410Decreased liver function1MARS1 CL E G H41416898OMIM:615486Interstitial lung and liver disease.
HP:0025155HP:0001410Decreased liver function1MED12 CL E G H996811957OMIM:301068HARDIKAR SYNDROME; HDKR228
HP:0025155HP:0001410Decreased liver function1MEFV CL E G H42106998ORPHA:342Familial Mediterranean fever281
HP:0025155HP:0001410Decreased liver function1MICOS13 CL E G H12598833702OMIM:618329COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37
HP:0025155HP:0001410Decreased liver function1MMEL1 CL E G H7925814668ORPHA:186Primary biliary cholangitis
HP:0025155HP:0001410Decreased liver function1MPI CL E G H43517216OMIM:602579Congenital disorder of glycosylation, type Ib51
HP:0025155HP:0001410Decreased liver function1MPI CL E G H43517216ORPHA:79319MPI-CDGHP:0040282 - Frequent51
HP:0025155HP:0001410Decreased liver function1MPV17 CL E G H43587224OMIM:256810Navajo neurohepatopathy56
HP:0025155HP:0006582Reye syndrome-like episodes1MPV17 CL E G H43587224OMIM:256810Navajo neurohepatopathy.56
HP:0025155HP:0001410Decreased liver function1MRM2 CL E G H2996016352OMIM:618567MITOCHONDRIAL DNA DEPLETION SYNDROME 17; MTDPS17
HP:0025155HP:0001410Decreased liver function1MRPS23 CL E G H5164914509OMIM:618952COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 46; COXPD46
HP:0025155HP:0001410Decreased liver function1MRPS7 CL E G H5108114499OMIM:617872Combined oxidative phosphorylation deficiency 3412
HP:0025155HP:0001410Decreased liver function1MST1 CL E G H44857380ORPHA:171Primary sclerosing cholangitis1
HP:0025155HP:0006582Reye syndrome-like episodes1NAGS CL E G H16241717996ORPHA:927Hyperammonemia due to N-acetylglutamate synthase deficiencyHP:0040284 - Very rare36
HP:0025155HP:0001410Decreased liver function1NBAS CL E G H5159415625OMIM:616483INFANTILE LIVER FAILURE SYNDROME 2; ILFS225
HP:0025155HP:0001410Decreased liver function1ND1 CL E G H45357455ORPHA:255210Mitochondrial DNA-associated Leigh syndrome
HP:0025155HP:0001410Decreased liver function1ND2 CL E G H45367456ORPHA:255210Mitochondrial DNA-associated Leigh syndrome
HP:0025155HP:0001410Decreased liver function1ND3 CL E G H45377458ORPHA:255210Mitochondrial DNA-associated Leigh syndrome
HP:0025155HP:0001410Decreased liver function1ND4 CL E G H45387459ORPHA:255210Mitochondrial DNA-associated Leigh syndrome
HP:0025155HP:0001410Decreased liver function1ND5 CL E G H45407461ORPHA:255210Mitochondrial DNA-associated Leigh syndrome
HP:0025155HP:0001410Decreased liver function1ND6 CL E G H45417462ORPHA:255210Mitochondrial DNA-associated Leigh syndrome
HP:0025155HP:0001410Decreased liver function1NDUFAF3 CL E G H2591529918ORPHA:70474Leigh syndrome with cardiomyopathyHP:0040283 - Occasional31
HP:0025155HP:0001410Decreased liver function1NDUFB8 CL E G H47147703ORPHA:70474Leigh syndrome with cardiomyopathyHP:0040283 - Occasional
HP:0025155HP:0001410Decreased liver function1NDUFS2 CL E G H47207708ORPHA:70474Leigh syndrome with cardiomyopathyHP:0040283 - Occasional65
HP:0025155HP:0001410Decreased liver function1NDUFS4 CL E G H47247711OMIM:252010Mitochondrial complex I deficiency, nuclear type 127
HP:0025155HP:0001410Decreased liver function1NHLRC1 CL E G H37888421576ORPHA:501Lafora disease77
HP:0025155HP:0001410Decreased liver function1NHLRC1 CL E G H37888421576OMIM:254780Myoclonic epilepsy of lafora77
HP:0025155HP:0001410Decreased liver function1NHP2 CL E G H5565114377ORPHA:1775Dyskeratosis congenita27
HP:0025155HP:0001410Decreased liver function1NOP10 CL E G H5550514378ORPHA:1775Dyskeratosis congenita17
HP:0025155HP:0001410Decreased liver function1NPC1 CL E G H48647897OMIM:257220Niemann-pick disease, type C1258
HP:0025155HP:0001410Decreased liver function1NPM1 CL E G H48697910ORPHA:1775Dyskeratosis congenita12
HP:0025155HP:0001410Decreased liver function1NR1H4 CL E G H99717967OMIM:617049CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5; PFIC514
HP:0025155HP:0001410Decreased liver function1OCLN CL E G H1005066588104OMIM:251290Band-Like calcification with simplified gyration and polymicrogyria.23
HP:0025155HP:0001410Decreased liver function1OSTM1 CL E G H2896221652OMIM:259720Osteopetrosis, autosomal recessive 573
HP:0025155HP:0001410Decreased liver function1OTC CL E G H50098512ORPHA:664Ornithine transcarbamylase deficiency369
HP:0025155HP:0001410Decreased liver function1P4HA2 CL E G H89748547ORPHA:397Giant cell arteritis3
HP:0025155HP:0001410Decreased liver function1PARN CL E G H50738609ORPHA:1775Dyskeratosis congenita26
HP:0025155HP:0001410Decreased liver function1PARS2 CL E G H2597330563OMIM:618437Epileptic encephalopathy, early infantile, 75HP:0040284 - Very rare14
HP:0025155HP:0001410Decreased liver function1PCK1 CL E G H51058724OMIM:261680Phosphoenolpyruvate carboxykinase deficiency, cytosolic53
HP:0025155HP:0001410Decreased liver function1PCK2 CL E G H51068725OMIM:261650Phosphoenolpyruvate carboxykinase 2, mitochondrial6
HP:0025155HP:0001410Decreased liver function1PEX1 CL E G H51898850ORPHA:912Zellweger syndrome169
HP:0025155HP:0001410Decreased liver function1PEX10 CL E G H51928851OMIM:614870Peroxisome biogenesis disorder 6A (Zellweger).75
HP:0025155HP:0001410Decreased liver function1PEX10 CL E G H51928851OMIM:614871Peroxisome biogenesis disorder 6B.75
HP:0025155HP:0001410Decreased liver function1PEX10 CL E G H51928851ORPHA:912Zellweger syndrome75
HP:0025155HP:0001410Decreased liver function1PEX11B CL E G H87998853ORPHA:912Zellweger syndrome4
HP:0025155HP:0001410Decreased liver function1PEX12 CL E G H51938854ORPHA:912Zellweger syndrome65
HP:0025155HP:0001410Decreased liver function1PEX13 CL E G H51948855OMIM:614883Peroxisome biogenesis disorder 11A (Zellweger).66
HP:0025155HP:0001410Decreased liver function1PEX13 CL E G H51948855ORPHA:912Zellweger syndrome66
HP:0025155HP:0001410Decreased liver function1PEX14 CL E G H51958856ORPHA:912Zellweger syndrome46
HP:0025155HP:0001410Decreased liver function1PEX16 CL E G H94098857OMIM:614877Peroxisome biogenesis disorder 8B.59
HP:0025155HP:0001410Decreased liver function1PEX16 CL E G H94098857ORPHA:912Zellweger syndrome59
HP:0025155HP:0001410Decreased liver function1PEX19 CL E G H58249713OMIM:614886Peroxisome biogenesis disorder 12A (Zellweger)62
HP:0025155HP:0001410Decreased liver function1PEX19 CL E G H58249713ORPHA:912Zellweger syndrome62
HP:0025155HP:0001410Decreased liver function1PEX2 CL E G H58289717OMIM:614867Peroxisome biogenesis disorder 5B.82
HP:0025155HP:0001410Decreased liver function1PEX2 CL E G H58289717ORPHA:912Zellweger syndrome82
HP:0025155HP:0001410Decreased liver function1PEX26 CL E G H5567022965OMIM:614873Peroxisome biogenesis disorder 7B.106
HP:0025155HP:0001410Decreased liver function1PEX26 CL E G H5567022965ORPHA:912Zellweger syndrome106
HP:0025155HP:0001410Decreased liver function1PEX3 CL E G H85048858ORPHA:912Zellweger syndrome47
HP:0025155HP:0001410Decreased liver function1PEX5 CL E G H58309719ORPHA:912Zellweger syndrome99
HP:0025155HP:0001410Decreased liver function1PEX6 CL E G H51908859OMIM:614863Peroxisome biogenesis disorder 4B.98
HP:0025155HP:0001410Decreased liver function1PEX6 CL E G H51908859ORPHA:912Zellweger syndrome98
HP:0025155HP:0001410Decreased liver function1PIGA CL E G H52778957OMIM:301072NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH46
HP:0025155HP:0006558Decreased mitochondrial complex III activity in liver tissue1PNPT1 CL E G H8717823166OMIM:614932Combined oxidative phosphorylation deficiency 1360
HP:0025155HP:0001410Decreased liver function1POLG CL E G H54289179OMIM:203700Mitochondrial DNA depletion syndrome 4A (Alpers type)464
HP:0025155HP:0001410Decreased liver function1POLG2 CL E G H112329180OMIM:618528Mitochondrial DNA depletion syndrome 16 (hepatic type)45
HP:0025155HP:0001410Decreased liver function1PORCN CL E G H6484017652ORPHA:2092Focal dermal hypoplasia20
HP:0025155HP:0001410Decreased liver function1POU2AF1 CL E G H54509211ORPHA:186Primary biliary cholangitis
HP:0025155HP:0001410Decreased liver function1PRF1 CL E G H55519360ORPHA:540Familial hemophagocytic lymphohistiocytosisHP:0040282 - Frequent58
HP:0025155HP:0001410Decreased liver function1PTPN22 CL E G H261919652ORPHA:397Giant cell arteritis3
HP:0025155HP:0001410Decreased liver function1QRSL1 CL E G H5527821020OMIM:618835COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 40; COXPD40
HP:0025155HP:0001410Decreased liver function1RINT1 CL E G H6056121876OMIM:618641INFANTILE LIVER FAILURE SYNDROME 3; ILFS399
HP:0025155HP:0001410Decreased liver function1RMND1 CL E G H5500521176OMIM:614922Combined oxidative phosphorylation deficiency 11.26
HP:0025155HP:0001410Decreased liver function1RNU12 CL E G H26701019380ORPHA:512260Congenital cerebellar ataxia due to RNU12 mutationHP:0040283 - Occasional
HP:0025155HP:0001410Decreased liver function1RPGRIP1L CL E G H2332229168ORPHA:1454Joubert syndrome with hepatic defect167
HP:0025155HP:0001410Decreased liver function1RTEL1 CL E G H5175015888ORPHA:1775Dyskeratosis congenita77
HP:0025155HP:0001410Decreased liver function1RUNX1 CL E G H86110471ORPHA:98850Aggressive systemic mastocytosisHP:0040283 - Occasional181
HP:0025155HP:0001410Decreased liver function1RYR1 CL E G H626110483ORPHA:466650Exercise-induced malignant hyperthermiaHP:0040283 - Occasional1200
HP:0025155HP:0001410Decreased liver function1RYR1 CL E G H626110483ORPHA:423Malignant hyperthermia of anesthesia1200
HP:0025155HP:0001410Decreased liver function1SC5D CL E G H630910547ORPHA:46059Lathosterolosis80
HP:0025155HP:0001410Decreased liver function1SCO2 CL E G H999710604ORPHA:70474Leigh syndrome with cardiomyopathyHP:0040283 - Occasional40
HP:0025155HP:0001410Decreased liver function1SCYL1 CL E G H5741014372ORPHA:466794Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome5
HP:0025155HP:0001410Decreased liver function1SCYL1 CL E G H5741014372OMIM:616719Spinocerebellar ataxia, autosomal recessive 215
HP:0025155HP:0001410Decreased liver function1SEMA4D CL E G H1050710732ORPHA:171Primary sclerosing cholangitis
HP:0025155HP:0001410Decreased liver function1SERPINA1 CL E G H52658941ORPHA:60Alpha-1-antitrypsin deficiency131
HP:0025155HP:0001410Decreased liver function1SH2D1A CL E G H406810820OMIM:308240Lymphoproliferative syndrome, X-linked, 137
HP:0025155HP:0001410Decreased liver function1SKIC3 CL E G H965223639OMIM:222470Trichohepatoenteric syndrome 1
HP:0025155HP:0001410Decreased liver function1SLC25A15 CL E G H1016610985ORPHA:415Hyperornithinemia-hyperammonemia-homocitrullinuria syndromeHP:0040282 - Frequent88
HP:0025155HP:0001410Decreased liver function1SLC25A15 CL E G H1016610985OMIM:238970Hyperornithinemia-Hyperammonemia-Homocitrullinuria syndrome.88
HP:0025155HP:0001410Decreased liver function1SLC25A20 CL E G H7881421ORPHA:159Carnitine-acylcarnitine translocase deficiency40
HP:0025155HP:0001410Decreased liver function1SLC2A2 CL E G H651411006ORPHA:2088Fanconi-Bickel syndrome71
HP:0025155HP:0001410Decreased liver function1SLC30A10 CL E G H5553225355OMIM:613280Hypermanganesemia with dystonia 142
HP:0025155HP:0006558Decreased mitochondrial complex III activity in liver tissue1SLC39A8 CL E G H6411620862ORPHA:468699SLC39A8-CDGHP:0040283 - Occasional11
HP:0025155HP:0001410Decreased liver function1SLC7A7 CL E G H905611065ORPHA:470Lysinuric protein intolerance104
HP:0025155HP:0001410Decreased liver function1SMAD4 CL E G H40896770ORPHA:774Hereditary hemorrhagic telangiectasia504
HP:0025155HP:0001410Decreased liver function1SMPD1 CL E G H660911120ORPHA:77293Niemann-Pick disease type BHP:0040282 - Frequent164
HP:0025155HP:0001410Decreased liver function1SP110 CL E G H34315401ORPHA:79124Hepatic veno-occlusive disease-immunodeficiency syndrome49
HP:0025155HP:0001410Decreased liver function1SPIB CL E G H668911242ORPHA:186Primary biliary cholangitis
HP:0025155HP:0001410Decreased liver function1SRSF2 CL E G H642710783ORPHA:98850Aggressive systemic mastocytosisHP:0040283 - Occasional1
HP:0025155HP:0001410Decreased liver function1STX11 CL E G H867611429ORPHA:540Familial hemophagocytic lymphohistiocytosisHP:0040282 - Frequent85
HP:0025155HP:0001410Decreased liver function1STXBP2 CL E G H681311445ORPHA:540Familial hemophagocytic lymphohistiocytosisHP:0040282 - Frequent70
HP:0025155HP:0001410Decreased liver function1SURF1 CL E G H683411474ORPHA:70474Leigh syndrome with cardiomyopathyHP:0040283 - Occasional73
HP:0025155HP:0001410Decreased liver function1SURF1 CL E G H683411474OMIM:220110Mitochondrial complex IV deficiency.73
HP:0025155HP:0001410Decreased liver function1TALDO1 CL E G H688811559OMIM:606003Transaldolase deficiency.34
HP:0025155HP:0001410Decreased liver function1TCF4 CL E G H692511634ORPHA:171Primary sclerosing cholangitis241
HP:0025155HP:0001410Decreased liver function1TERC CL E G H701211727ORPHA:1775Dyskeratosis congenita48
HP:0025155HP:0001410Decreased liver function1TERT CL E G H701511730ORPHA:1775Dyskeratosis congenita238
HP:0025155HP:0001410Decreased liver function1TET2 CL E G H5479025941ORPHA:98850Aggressive systemic mastocytosisHP:0040283 - Occasional3
HP:0025155HP:0001410Decreased liver function1TFAM CL E G H701911741OMIM:617156Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)1
HP:0025155HP:0001410Decreased liver function1TINF2 CL E G H2627711824ORPHA:1775Dyskeratosis congenita60
HP:0025155HP:0001410Decreased liver function1TJP2 CL E G H941411828OMIM:615878CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 4; PFIC4149
HP:0025155HP:0001410Decreased liver function1TMEM199 CL E G H14700718085OMIM:616829Congenital disorder of glycosylation, type IIP.4
HP:0025155HP:0001410Decreased liver function1TMEM67 CL E G H9114728396ORPHA:1454Joubert syndrome with hepatic defect166
HP:0025155HP:0001410Decreased liver function1TNFSF15 CL E G H996611931ORPHA:186Primary biliary cholangitis
HP:0025155HP:0001410Decreased liver function1TNPO3 CL E G H2353417103ORPHA:186Primary biliary cholangitis71
HP:0025155HP:0001410Decreased liver function1TRMT10C CL E G H5493126022OMIM:616974Combined oxidative phosphorylation deficiency 30.3
HP:0025155HP:0001410Decreased liver function1TRMU CL E G H5568725481OMIM:613070Liver failure, infantile, transient101
HP:0025155HP:0001410Decreased liver function1TRNK CL E G H45667489ORPHA:255210Mitochondrial DNA-associated Leigh syndrome
HP:0025155HP:0001410Decreased liver function1TRNL1 CL E G H45677490ORPHA:255210Mitochondrial DNA-associated Leigh syndrome
HP:0025155HP:0001410Decreased liver function1TRNN CL E G H45707493OMIM:220110Mitochondrial complex IV deficiency.
HP:0025155HP:0001410Decreased liver function1TRNS1 CL E G H45747497OMIM:220110Mitochondrial complex IV deficiency.
HP:0025155HP:0001410Decreased liver function1TRNT CL E G H45767499ORPHA:254857Lethal infantile mitochondrial myopathy
HP:0025155HP:0001410Decreased liver function1TRNV CL E G H45777500ORPHA:255210Mitochondrial DNA-associated Leigh syndrome
HP:0025155HP:0001410Decreased liver function1TRNW CL E G H45787501ORPHA:255210Mitochondrial DNA-associated Leigh syndrome
HP:0025155HP:0001410Decreased liver function1TYMS CL E G H729812441ORPHA:1775Dyskeratosis congenita1
HP:0025155HP:0001410Decreased liver function1UBR1 CL E G H19713116808OMIM:243800Johanson-Blizzard syndrome25
HP:0025155HP:0001410Decreased liver function1UNC13D CL E G H20129423147ORPHA:540Familial hemophagocytic lymphohistiocytosisHP:0040282 - Frequent116
HP:0025155HP:0001410Decreased liver function1UQCRC2 CL E G H738512586OMIM:615160Mitochondrial complex III deficiency, nuclear type 5.17
HP:0025155HP:0001410Decreased liver function1USB1 CL E G H7965025792ORPHA:1775Dyskeratosis congenita8
HP:0025155HP:0001410Decreased liver function1VPS51 CL E G H7381172OMIM:618606PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13
HP:0025155HP:0001410Decreased liver function1WRAP53 CL E G H5513525522ORPHA:1775Dyskeratosis congenita40
HP:0025155HP:0001410Decreased liver function1XIAP CL E G H331592OMIM:308240Lymphoproliferative syndrome, X-linked, 181
HP:0025155HP:0001410Decreased liver function1ZNFX1 CL E G H5716929271OMIM:619644IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91
HP:0025155HP:0001399Hepatic failure2ABCD3 CL E G H582567OMIM:616278BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5; CBAS55
HP:0025155HP:0001399Hepatic failure2ACAD9 CL E G H2897621497ORPHA:99901Acyl-CoA dehydrogenase 9 deficiency98
HP:0025155HP:0001399Hepatic failure2ACAD9 CL E G H2897621497OMIM:611126Mitochondrial complex I deficiency due to acad9 deficiency.98
HP:0025155HP:0001399Hepatic failure2ACTG2 CL E G H72145OMIM:619431MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 5; MMIHS523
HP:0025155HP:0001399Hepatic failure2ACVRL1 CL E G H94175ORPHA:774Hereditary hemorrhagic telangiectasiaHP:0040283 - Occasional178
HP:0025155HP:0001399Hepatic failure2AKR1D1 CL E G H6718388OMIM:235555Bile acid synthesis defect, congenital, 2.62
HP:0025155HP:0001399Hepatic failure2AKR1D1 CL E G H6718388ORPHA:79303Congenital bile acid synthesis defect type 262
HP:0025155HP:0001399Hepatic failure2ALDOB CL E G H229417ORPHA:469Hereditary fructose intolerance73
HP:0025155HP:0001399Hepatic failure2ALMS1 CL E G H7840428ORPHA:64Alström syndromeHP:0040283 - Occasional404
HP:0025155HP:0001399Hepatic failure2AMACR CL E G H23600451OMIM:214950Bile acid synthesis defect, congenital, 4.44
HP:0025155HP:0001399Hepatic failure2ASAH1 CL E G H427735ORPHA:333Farber diseaseHP:0040284 - Very rare78
HP:0025155HP:0001399Hepatic failure2ATP6 CL E G H45087414ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040283 - Occasional
HP:0025155HP:0001399Hepatic failure2ATP7B CL E G H540870OMIM:277900Wilson disease.315
HP:0025155HP:0001399Hepatic failure2ATP7B CL E G H540870ORPHA:905Wilson disease315
HP:0025155HP:0001399Hepatic failure2ATRX CL E G H546886ORPHA:100075Neuroendocrine tumor of stomachHP:0040284 - Very rare169
HP:0025155HP:0001399Hepatic failure2BAAT CL E G H570932OMIM:619232BILE ACID CONJUGATION DEFECT 1; BACD163
HP:0025155HP:0001399Hepatic failure2BMP6 CL E G H6541073ORPHA:465508Symptomatic form of hemochromatosis type 1
HP:0025155HP:0001399Hepatic failure2BTNL2 CL E G H562441142ORPHA:797SarcoidosisHP:0040283 - Occasional1
HP:0025155HP:0001399Hepatic failure2CACNA1S CL E G H7791397ORPHA:423Malignant hyperthermia of anesthesia247
HP:0025155HP:0001399Hepatic failure2CALR CL E G H8111455ORPHA:131Budd-Chiari syndrome1
HP:0025155HP:0001399Hepatic failure2CC2D2A CL E G H5754529253ORPHA:1454Joubert syndrome with hepatic defect247
HP:0025155HP:0001399Hepatic failure2CCDC115 CL E G H8431728178OMIM:616828Congenital disorder of glycosylation, type IIO3
HP:0025155HP:0001399Hepatic failure2CEP164 CL E G H2289729182OMIM:614845Nephronophthisis 15HP:0040283 - Occasional34
HP:0025155HP:0001399Hepatic failure2COG4 CL E G H2583918620ORPHA:263501COG4-CDG67
HP:0025155HP:0001399Hepatic failure2COG4 CL E G H2583918620OMIM:613489Congenital disorder of glycosylation, type IIjHP:0040283 - Occasional67
HP:0025155HP:0001399Hepatic failure2COQ2 CL E G H2723525223OMIM:607426Coenzyme Q10 deficiency, primary, 1.54
HP:0025155HP:0001399Hepatic failure2COX16 CL E G H5124120213OMIM:619355MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22; MC4DN22
HP:0025155HP:0001399Hepatic failure2CPT1A CL E G H13742328ORPHA:156Carnitine palmitoyl transferase 1A deficiencyHP:0040281 - Very frequent99
HP:0025155HP:0001399Hepatic failure2CPT2 CL E G H13762330ORPHA:228308Carnitine palmitoyl transferase II deficiency, neonatal formHP:0040282 - Frequent101
HP:0025155HP:0001399Hepatic failure2CPT2 CL E G H13762330ORPHA:228305Carnitine palmitoyl transferase II deficiency, severe infantile formHP:0040283 - Occasional101
HP:0025155HP:0001399Hepatic failure2CTC1 CL E G H8016926169ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional160
HP:0025155HP:0001399Hepatic failure2CYC1 CL E G H15372579OMIM:615453Mitochondrial complex III deficiency, nuclear type 612
HP:0025155HP:0001399Hepatic failure2CYP7B1 CL E G H94202652OMIM:613812Bile acid synthesis defect, congenital, 3.57
HP:0025155HP:0001399Hepatic failure2CYP7B1 CL E G H94202652ORPHA:79302Congenital bile acid synthesis defect type 3HP:0040281 - Very frequent57
HP:0025155HP:0001399Hepatic failure2DAXX CL E G H16162681ORPHA:100075Neuroendocrine tumor of stomachHP:0040284 - Very rare
HP:0025155HP:0001399Hepatic failure2DCDC2 CL E G H5147318141OMIM:617394Sclerosing cholangitis, neonatal8
HP:0025155HP:0001399Hepatic failure2DEF6 CL E G H506192760OMIM:619573IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0025155HP:0001399Hepatic failure2DGUOK CL E G H17162858OMIM:251880Mitochondrial DNA depletion syndrome 3 (hepatocerebral type).57
HP:0025155HP:0001399Hepatic failure2DKC1 CL E G H17362890ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional65
HP:0025155HP:0001399Hepatic failure2DLD CL E G H17382898ORPHA:2394Pyruvate dehydrogenase E3 deficiencyHP:0040283 - Occasional89
HP:0025155HP:0001399Hepatic failure2EIF2AK3 CL E G H94513255ORPHA:1667Wolcott-Rallison syndrome65
HP:0025155HP:0001399Hepatic failure2ENG CL E G H20223349ORPHA:774Hereditary hemorrhagic telangiectasiaHP:0040283 - Occasional186
HP:0025155HP:0001399Hepatic failure2EPM2A CL E G H79573413ORPHA:501Lafora diseaseHP:0040283 - Occasional83
HP:0025155HP:0001399Hepatic failure2EPM2A CL E G H79573413OMIM:254780Myoclonic epilepsy of lafora.83
HP:0025155HP:0001399Hepatic failure2F13A1 CL E G H21623531ORPHA:331Congenital factor XIII deficiencyHP:0040284 - Very rare60
HP:0025155HP:0001399Hepatic failure2F13B CL E G H21653534ORPHA:331Congenital factor XIII deficiencyHP:0040284 - Very rare32
HP:0025155HP:0001399Hepatic failure2F5 CL E G H21533542ORPHA:131Budd-Chiari syndrome159
HP:0025155HP:0001399Hepatic failure2FAH CL E G H21843579ORPHA:882Tyrosinemia type 1107
HP:0025155HP:0001399Hepatic failure2FAH CL E G H21843579OMIM:276700Tyrosinemia, type I107
HP:0025155HP:0001399Hepatic failure2FECH CL E G H22353647OMIM:177000Protoporphyria, erythropoietic, 1.145
HP:0025155HP:0001399Hepatic failure2FH CL E G H22713700OMIM:606812Fumarase deficiency.301
HP:0025155HP:0001399Hepatic failure2FOCAD CL E G H5491423377OMIM:6199913
HP:0025155HP:0001399Hepatic failure2GALT CL E G H25924135ORPHA:79239Classic galactosemiaHP:0040282 - Frequent351
HP:0025155HP:0001399Hepatic failure2GBA1 CL E G H26294177OMIM:608013Gaucher disease, perinatal lethal.
HP:0025155HP:0001399Hepatic failure2GBE1 CL E G H26324180OMIM:232500Glycogen storage disease IV.86
HP:0025155HP:0001399Hepatic failure2GDF2 CL E G H26584217ORPHA:774Hereditary hemorrhagic telangiectasiaHP:0040283 - Occasional8
HP:0025155HP:0001399Hepatic failure2GFM1 CL E G H8547613780OMIM:609060Combined oxidative phosphorylation deficiency 185
HP:0025155HP:0001399Hepatic failure2GPR35 CL E G H28594492ORPHA:171Primary sclerosing cholangitis2
HP:0025155HP:0001399Hepatic failure2H4C3 CL E G H83644787OMIM:619758TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1
HP:0025155HP:0001399Hepatic failure2HADH CL E G H30334799OMIM:2315303-Hydroxyacyl-Coa dehydrogenase deficiency41
HP:0025155HP:0001399Hepatic failure2HADH CL E G H30334799ORPHA:71212Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency41
HP:0025155HP:0001399Hepatic failure2HADHA CL E G H30304801ORPHA:746Mitochondrial trifunctional protein deficiency99
HP:0025155HP:0001399Hepatic failure2HADHB CL E G H30324803ORPHA:746Mitochondrial trifunctional protein deficiency60
HP:0025155HP:0001399Hepatic failure2HFE CL E G H30774886ORPHA:465508Symptomatic form of hemochromatosis type 138
HP:0025155HP:0001399Hepatic failure2HLA-B CL E G H31064932ORPHA:397Giant cell arteritisHP:0040283 - Occasional4
HP:0025155HP:0001399Hepatic failure2HLA-B CL E G H31064932ORPHA:36426Stevens-Johnson syndrome4
HP:0025155HP:0001399Hepatic failure2HLA-DRB1 CL E G H31234948ORPHA:397Giant cell arteritisHP:0040283 - Occasional2
HP:0025155HP:0001399Hepatic failure2HLA-DRB1 CL E G H31234948ORPHA:797SarcoidosisHP:0040283 - Occasional2
HP:0025155HP:0001399Hepatic failure2HSD3B7 CL E G H8027018324OMIM:607765Bile acid synthesis defect, congenital, 1.26
HP:0025155HP:0001399Hepatic failure2IARS1 CL E G H33765330ORPHA:541423Growth delay-intellectual disability-hepatopathy syndromeHP:0040283 - Occasional
HP:0025155HP:0001399Hepatic failure2IFT122 CL E G H5576413556OMIM:218330Cranioectodermal dysplasia.93
HP:0025155HP:0001399Hepatic failure2IFT172 CL E G H2616030391OMIM:615630Short-Rib thoracic dysplasia 10 with or without polydactyly.48
HP:0025155HP:0001399Hepatic failure2IKZF1 CL E G H1032013176ORPHA:36426Stevens-Johnson syndrome8
HP:0025155HP:0001399Hepatic failure2IL12A CL E G H35925969ORPHA:186Primary biliary cholangitisHP:0040282 - Frequent
HP:0025155HP:0001399Hepatic failure2IL12RB1 CL E G H35945971ORPHA:186Primary biliary cholangitisHP:0040282 - Frequent46
HP:0025155HP:0001399Hepatic failure2IL18BP CL E G H100685987OMIM:618549HEPATITIS, FULMINANT VIRAL, SUSCEPTIBILITY TO; FVH
HP:0025155HP:0001399Hepatic failure2IL21R CL E G H506156006OMIM:615207IMMUNODEFICIENCY 56; IMD567
HP:0025155HP:0001399Hepatic failure2INPP5E CL E G H5662321474ORPHA:1454Joubert syndrome with hepatic defect111
HP:0025155HP:0001399Hepatic failure2IRF5 CL E G H36636120ORPHA:186Primary biliary cholangitisHP:0040282 - Frequent4
HP:0025155HP:0001399Hepatic failure2ITCH CL E G H8373713890ORPHA:228426Syndromic multisystem autoimmune disease due to Itch deficiency3
HP:0025155HP:0001399Hepatic failure2JAG1 CL E G H1826188OMIM:118450Alagille syndrome 1257
HP:0025155HP:0001399Hepatic failure2JAK2 CL E G H37176192ORPHA:131Budd-Chiari syndrome57
HP:0025155HP:0001399Hepatic failure2KRT18 CL E G H38756430OMIM:215600Cirrhosis, familial19
HP:0025155HP:0001399Hepatic failure2LARS1 CL E G H515206512OMIM:615438Infantile liver failure syndrome 1
HP:0025155HP:0001399Hepatic failure2LIPA CL E G H39886617ORPHA:75234Cholesteryl ester storage diseaseHP:0040282 - Frequent73
HP:0025155HP:0001399Hepatic failure2LIPA CL E G H39886617OMIM:278000Lysosomal acid lipase deficiency73
HP:0025155HP:0001399Hepatic failure2LIPA CL E G H39886617ORPHA:75233Wolman diseaseHP:0040281 - Very frequent73
HP:0025155HP:0001399Hepatic failure2MARS1 CL E G H41416898OMIM:615486Interstitial lung and liver disease
HP:0025155HP:0001399Hepatic failure2MED12 CL E G H996811957OMIM:301068HARDIKAR SYNDROME; HDKR228
HP:0025155HP:0001399Hepatic failure2MEFV CL E G H42106998ORPHA:342Familial Mediterranean fever281
HP:0025155HP:0001399Hepatic failure2MMEL1 CL E G H7925814668ORPHA:186Primary biliary cholangitisHP:0040282 - Frequent
HP:0025155HP:0001399Hepatic failure2MPI CL E G H43517216OMIM:602579Congenital disorder of glycosylation, type Ib.51
HP:0025155HP:0001399Hepatic failure2MPV17 CL E G H43587224OMIM:256810Navajo neurohepatopathy56
HP:0025155HP:0001399Hepatic failure2MRM2 CL E G H2996016352OMIM:618567MITOCHONDRIAL DNA DEPLETION SYNDROME 17; MTDPS17
HP:0025155HP:0001399Hepatic failure2MRPS7 CL E G H5108114499OMIM:617872Combined oxidative phosphorylation deficiency 34.12
HP:0025155HP:0001399Hepatic failure2MST1 CL E G H44857380ORPHA:171Primary sclerosing cholangitis1
HP:0025155HP:0001399Hepatic failure2NBAS CL E G H5159415625OMIM:616483INFANTILE LIVER FAILURE SYNDROME 2; ILFS225
HP:0025155HP:0001399Hepatic failure2ND1 CL E G H45357455ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040283 - Occasional
HP:0025155HP:0001399Hepatic failure2ND2 CL E G H45367456ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040283 - Occasional
HP:0025155HP:0001399Hepatic failure2ND3 CL E G H45377458ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040283 - Occasional
HP:0025155HP:0001399Hepatic failure2ND4 CL E G H45387459ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040283 - Occasional
HP:0025155HP:0001399Hepatic failure2ND5 CL E G H45407461ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040283 - Occasional
HP:0025155HP:0001399Hepatic failure2ND6 CL E G H45417462ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040283 - Occasional
HP:0025155HP:0001399Hepatic failure2NDUFS4 CL E G H47247711OMIM:252010Mitochondrial complex I deficiency, nuclear type 1.27
HP:0025155HP:0001399Hepatic failure2NHLRC1 CL E G H37888421576ORPHA:501Lafora diseaseHP:0040283 - Occasional77
HP:0025155HP:0001399Hepatic failure2NHLRC1 CL E G H37888421576OMIM:254780Myoclonic epilepsy of lafora.77
HP:0025155HP:0001399Hepatic failure2NHP2 CL E G H5565114377ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional27
HP:0025155HP:0001399Hepatic failure2NOP10 CL E G H5550514378ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional17
HP:0025155HP:0001399Hepatic failure2NPC1 CL E G H48647897OMIM:257220Niemann-pick disease, type C1258
HP:0025155HP:0001399Hepatic failure2NPM1 CL E G H48697910ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional12
HP:0025155HP:0001399Hepatic failure2NR1H4 CL E G H99717967OMIM:617049CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5; PFIC514
HP:0025155HP:0001399Hepatic failure2OSTM1 CL E G H2896221652OMIM:259720Osteopetrosis, autosomal recessive 5.73
HP:0025155HP:0001399Hepatic failure2OTC CL E G H50098512ORPHA:664Ornithine transcarbamylase deficiencyHP:0040281 - Very frequent369
HP:0025155HP:0001399Hepatic failure2P4HA2 CL E G H89748547ORPHA:397Giant cell arteritisHP:0040283 - Occasional3
HP:0025155HP:0001399Hepatic failure2PARN CL E G H50738609ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional26
HP:0025155HP:0001399Hepatic failure2PCK1 CL E G H51058724OMIM:261680Phosphoenolpyruvate carboxykinase deficiency, cytosolic.53
HP:0025155HP:0001399Hepatic failure2PCK2 CL E G H51068725OMIM:261650Phosphoenolpyruvate carboxykinase 2, mitochondrial.6
HP:0025155HP:0001399Hepatic failure2PEX1 CL E G H51898850ORPHA:912Zellweger syndromeHP:0040281 - Very frequent169
HP:0025155HP:0001399Hepatic failure2PEX10 CL E G H51928851ORPHA:912Zellweger syndromeHP:0040281 - Very frequent75
HP:0025155HP:0001399Hepatic failure2PEX11B CL E G H87998853ORPHA:912Zellweger syndromeHP:0040281 - Very frequent4
HP:0025155HP:0001399Hepatic failure2PEX12 CL E G H51938854ORPHA:912Zellweger syndromeHP:0040281 - Very frequent65
HP:0025155HP:0001399Hepatic failure2PEX13 CL E G H51948855ORPHA:912Zellweger syndromeHP:0040281 - Very frequent66
HP:0025155HP:0001399Hepatic failure2PEX14 CL E G H51958856ORPHA:912Zellweger syndromeHP:0040281 - Very frequent46
HP:0025155HP:0001399Hepatic failure2PEX16 CL E G H94098857ORPHA:912Zellweger syndromeHP:0040281 - Very frequent59
HP:0025155HP:0001399Hepatic failure2PEX19 CL E G H58249713OMIM:614886Peroxisome biogenesis disorder 12A (Zellweger).62
HP:0025155HP:0001399Hepatic failure2PEX19 CL E G H58249713ORPHA:912Zellweger syndromeHP:0040281 - Very frequent62
HP:0025155HP:0001399Hepatic failure2PEX2 CL E G H58289717ORPHA:912Zellweger syndromeHP:0040281 - Very frequent82
HP:0025155HP:0001399Hepatic failure2PEX26 CL E G H5567022965ORPHA:912Zellweger syndromeHP:0040281 - Very frequent106
HP:0025155HP:0001399Hepatic failure2PEX3 CL E G H85048858ORPHA:912Zellweger syndromeHP:0040281 - Very frequent47
HP:0025155HP:0001399Hepatic failure2PEX5 CL E G H58309719ORPHA:912Zellweger syndromeHP:0040281 - Very frequent99
HP:0025155HP:0001399Hepatic failure2PEX6 CL E G H51908859ORPHA:912Zellweger syndromeHP:0040281 - Very frequent98
HP:0025155HP:0001399Hepatic failure2PIGA CL E G H52778957OMIM:301072NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH46
HP:0025155HP:0001399Hepatic failure2POLG CL E G H54289179OMIM:203700Mitochondrial DNA depletion syndrome 4A (Alpers type).464
HP:0025155HP:0001399Hepatic failure2POLG2 CL E G H112329180OMIM:618528Mitochondrial DNA depletion syndrome 16 (hepatic type).45
HP:0025155HP:0001399Hepatic failure2PORCN CL E G H6484017652ORPHA:2092Focal dermal hypoplasia20
HP:0025155HP:0001399Hepatic failure2POU2AF1 CL E G H54509211ORPHA:186Primary biliary cholangitisHP:0040282 - Frequent
HP:0025155HP:0001399Hepatic failure2PTPN22 CL E G H261919652ORPHA:397Giant cell arteritisHP:0040283 - Occasional3
HP:0025155HP:0001399Hepatic failure2RINT1 CL E G H6056121876OMIM:618641INFANTILE LIVER FAILURE SYNDROME 3; ILFS399
HP:0025155HP:0001399Hepatic failure2RPGRIP1L CL E G H2332229168ORPHA:1454Joubert syndrome with hepatic defect167
HP:0025155HP:0001399Hepatic failure2RTEL1 CL E G H5175015888ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional77
HP:0025155HP:0001399Hepatic failure2RYR1 CL E G H626110483ORPHA:466650Exercise-induced malignant hyperthermiaHP:0040284 - Very rare1200
HP:0025155HP:0001399Hepatic failure2RYR1 CL E G H626110483ORPHA:423Malignant hyperthermia of anesthesia1200
HP:0025155HP:0001399Hepatic failure2SC5D CL E G H630910547ORPHA:46059LathosterolosisHP:0040282 - Frequent80
HP:0025155HP:0001399Hepatic failure2SCYL1 CL E G H5741014372ORPHA:466794Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome5
HP:0025155HP:0001399Hepatic failure2SCYL1 CL E G H5741014372OMIM:616719Spinocerebellar ataxia, autosomal recessive 21.5
HP:0025155HP:0001399Hepatic failure2SEMA4D CL E G H1050710732ORPHA:171Primary sclerosing cholangitis
HP:0025155HP:0001399Hepatic failure2SERPINA1 CL E G H52658941ORPHA:60Alpha-1-antitrypsin deficiencyHP:0040281 - Very frequent131
HP:0025155HP:0001399Hepatic failure2SH2D1A CL E G H406810820OMIM:308240Lymphoproliferative syndrome, X-linked, 137
HP:0025155HP:0001399Hepatic failure2SKIC3 CL E G H965223639OMIM:222470Trichohepatoenteric syndrome 1.
HP:0025155HP:0001399Hepatic failure2SLC25A15 CL E G H1016610985ORPHA:415Hyperornithinemia-hyperammonemia-homocitrullinuria syndromeHP:0040284 - Very rare88
HP:0025155HP:0001399Hepatic failure2SLC25A20 CL E G H7881421ORPHA:159Carnitine-acylcarnitine translocase deficiencyHP:0040283 - Occasional40
HP:0025155HP:0001399Hepatic failure2SLC2A2 CL E G H651411006ORPHA:2088Fanconi-Bickel syndromeHP:0040283 - Occasional71
HP:0025155HP:0001399Hepatic failure2SLC7A7 CL E G H905611065ORPHA:470Lysinuric protein intoleranceHP:0040282 - Frequent104
HP:0025155HP:0001399Hepatic failure2SMAD4 CL E G H40896770ORPHA:774Hereditary hemorrhagic telangiectasiaHP:0040283 - Occasional504
HP:0025155HP:0001399Hepatic failure2SMPD1 CL E G H660911120ORPHA:77293Niemann-Pick disease type BHP:0040284 - Very rare164
HP:0025155HP:0001399Hepatic failure2SP110 CL E G H34315401ORPHA:79124Hepatic veno-occlusive disease-immunodeficiency syndrome49
HP:0025155HP:0001399Hepatic failure2SPIB CL E G H668911242ORPHA:186Primary biliary cholangitisHP:0040282 - Frequent
HP:0025155HP:0001399Hepatic failure2TCF4 CL E G H692511634ORPHA:171Primary sclerosing cholangitis241
HP:0025155HP:0001399Hepatic failure2TERC CL E G H701211727ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional48
HP:0025155HP:0001399Hepatic failure2TERT CL E G H701511730ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional238
HP:0025155HP:0001399Hepatic failure2TFAM CL E G H701911741OMIM:617156Mitochondrial DNA depletion syndrome 15 (hepatocerebral type).1
HP:0025155HP:0001399Hepatic failure2TINF2 CL E G H2627711824ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional60
HP:0025155HP:0001399Hepatic failure2TJP2 CL E G H941411828OMIM:615878CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 4; PFIC4149
HP:0025155HP:0001399Hepatic failure2TMEM67 CL E G H9114728396ORPHA:1454Joubert syndrome with hepatic defect166
HP:0025155HP:0001399Hepatic failure2TNFSF15 CL E G H996611931ORPHA:186Primary biliary cholangitisHP:0040282 - Frequent
HP:0025155HP:0001399Hepatic failure2TNPO3 CL E G H2353417103ORPHA:186Primary biliary cholangitisHP:0040282 - Frequent71
HP:0025155HP:0001399Hepatic failure2TRMU CL E G H5568725481OMIM:613070Liver failure, infantile, transient101
HP:0025155HP:0001399Hepatic failure2TRNK CL E G H45667489ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040283 - Occasional
HP:0025155HP:0001399Hepatic failure2TRNL1 CL E G H45677490ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040283 - Occasional
HP:0025155HP:0001399Hepatic failure2TRNT CL E G H45767499ORPHA:254857Lethal infantile mitochondrial myopathy
HP:0025155HP:0001399Hepatic failure2TRNV CL E G H45777500ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040283 - Occasional
HP:0025155HP:0001399Hepatic failure2TRNW CL E G H45787501ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040283 - Occasional
HP:0025155HP:0001399Hepatic failure2TYMS CL E G H729812441ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional1
HP:0025155HP:0001399Hepatic failure2UBR1 CL E G H19713116808OMIM:243800Johanson-Blizzard syndromeHP:0040283 - Occasional25
HP:0025155HP:0001399Hepatic failure2USB1 CL E G H7965025792ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional8
HP:0025155HP:0001399Hepatic failure2WRAP53 CL E G H5513525522ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional40
HP:0025155HP:0001399Hepatic failure2XIAP CL E G H331592OMIM:308240Lymphoproliferative syndrome, X-linked, 181
HP:0025155HP:0001399Hepatic failure2ZNFX1 CL E G H5716929271OMIM:619644IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91
HP:0025155HP:0006554Acute hepatic failure3ACAD9 CL E G H2897621497ORPHA:99901Acyl-CoA dehydrogenase 9 deficiencyHP:0040283 - Occasional98
HP:0025155HP:0100626Chronic hepatic failure3ALDOB CL E G H229417ORPHA:469Hereditary fructose intoleranceHP:0040283 - Occasional73
HP:0025155HP:0006554Acute hepatic failure3ATP7B CL E G H540870ORPHA:905Wilson diseaseHP:0040281 - Very frequent315
HP:0025155HP:0006554Acute hepatic failure3ATP7B CL E G H540870OMIM:277900Wilson disease315
HP:0025155HP:0100626Chronic hepatic failure3BMP6 CL E G H6541073ORPHA:465508Symptomatic form of hemochromatosis type 1HP:0040283 - Occasional
HP:0025155HP:0006554Acute hepatic failure3CACNA1S CL E G H7791397ORPHA:423Malignant hyperthermia of anesthesiaHP:0040283 - Occasional247
HP:0025155HP:0006554Acute hepatic failure3CALR CL E G H8111455ORPHA:131Budd-Chiari syndromeHP:0040283 - Occasional1
HP:0025155HP:0100626Chronic hepatic failure3CC2D2A CL E G H5754529253ORPHA:1454Joubert syndrome with hepatic defectHP:0040283 - Occasional247
HP:0025155HP:0006583Fatal liver failure in infancy3COG4 CL E G H2583918620ORPHA:263501COG4-CDGHP:0040283 - Occasional67
HP:0025155HP:0006554Acute hepatic failure3CYC1 CL E G H15372579OMIM:615453Mitochondrial complex III deficiency, nuclear type 6.12
HP:0025155HP:0006554Acute hepatic failure3EIF2AK3 CL E G H94513255ORPHA:1667Wolcott-Rallison syndromeHP:0040282 - Frequent65
HP:0025155HP:0006554Acute hepatic failure3F5 CL E G H21533542ORPHA:131Budd-Chiari syndromeHP:0040283 - Occasional159
HP:0025155HP:0006554Acute hepatic failure3FAH CL E G H21843579ORPHA:882Tyrosinemia type 1HP:0040283 - Occasional107
HP:0025155HP:0006554Acute hepatic failure3FAH CL E G H21843579OMIM:276700Tyrosinemia, type I.107
HP:0025155HP:0006554Acute hepatic failure3GFM1 CL E G H8547613780OMIM:609060Combined oxidative phosphorylation deficiency 185
HP:0025155HP:0006554Acute hepatic failure3GPR35 CL E G H28594492ORPHA:171Primary sclerosing cholangitisHP:0040284 - Very rare2
HP:0025155HP:0100626Chronic hepatic failure3GPR35 CL E G H28594492ORPHA:171Primary sclerosing cholangitisHP:0040283 - Occasional2
HP:0025155HP:0006554Acute hepatic failure3HADH CL E G H30334799OMIM:2315303-Hydroxyacyl-Coa dehydrogenase deficiency41
HP:0025155HP:0006554Acute hepatic failure3HADH CL E G H30334799ORPHA:71212Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiencyHP:0040284 - Very rare41
HP:0025155HP:0100626Chronic hepatic failure3HADHA CL E G H30304801ORPHA:746Mitochondrial trifunctional protein deficiencyHP:0040282 - Frequent99
HP:0025155HP:0100626Chronic hepatic failure3HADHB CL E G H30324803ORPHA:746Mitochondrial trifunctional protein deficiencyHP:0040282 - Frequent60
HP:0025155HP:0100626Chronic hepatic failure3HFE CL E G H30774886ORPHA:465508Symptomatic form of hemochromatosis type 1HP:0040283 - Occasional38
HP:0025155HP:0006554Acute hepatic failure3HLA-B CL E G H31064932ORPHA:36426Stevens-Johnson syndromeHP:0040283 - Occasional4
HP:0025155HP:0006554Acute hepatic failure3IKZF1 CL E G H1032013176ORPHA:36426Stevens-Johnson syndromeHP:0040283 - Occasional8
HP:0025155HP:0006554Acute hepatic failure3IL18BP CL E G H100685987OMIM:618549HEPATITIS, FULMINANT VIRAL, SUSCEPTIBILITY TO; FVH
HP:0025155HP:0100626Chronic hepatic failure3INPP5E CL E G H5662321474ORPHA:1454Joubert syndrome with hepatic defectHP:0040283 - Occasional111
HP:0025155HP:0006554Acute hepatic failure3ITCH CL E G H8373713890ORPHA:228426Syndromic multisystem autoimmune disease due to Itch deficiencyHP:0040283 - Occasional3
HP:0025155HP:0006554Acute hepatic failure3JAK2 CL E G H37176192ORPHA:131Budd-Chiari syndromeHP:0040283 - Occasional57
HP:0025155HP:0006554Acute hepatic failure3KRT18 CL E G H38756430OMIM:215600Cirrhosis, familial19
HP:0025155HP:0006554Acute hepatic failure3LARS1 CL E G H515206512OMIM:615438Infantile liver failure syndrome 1
HP:0025155HP:0006554Acute hepatic failure3LIPA CL E G H39886617OMIM:278000Lysosomal acid lipase deficiency73
HP:0025155HP:0006554Acute hepatic failure3MEFV CL E G H42106998ORPHA:342Familial Mediterranean feverHP:0040283 - Occasional281
HP:0025155HP:0006554Acute hepatic failure3MPV17 CL E G H43587224OMIM:256810Navajo neurohepatopathy.56
HP:0025155HP:0100626Chronic hepatic failure3MST1 CL E G H44857380ORPHA:171Primary sclerosing cholangitisHP:0040283 - Occasional1
HP:0025155HP:0006554Acute hepatic failure3MST1 CL E G H44857380ORPHA:171Primary sclerosing cholangitisHP:0040284 - Very rare1
HP:0025155HP:0006554Acute hepatic failure3NBAS CL E G H5159415625OMIM:616483INFANTILE LIVER FAILURE SYNDROME 2; ILFS225
HP:0025155HP:0006583Fatal liver failure in infancy3NPC1 CL E G H48647897OMIM:257220Niemann-pick disease, type C1.258
HP:0025155HP:0006554Acute hepatic failure3PORCN CL E G H6484017652ORPHA:2092Focal dermal hypoplasiaHP:0040283 - Occasional20
HP:0025155HP:0006554Acute hepatic failure3RINT1 CL E G H6056121876OMIM:618641INFANTILE LIVER FAILURE SYNDROME 3; ILFS399
HP:0025155HP:0100626Chronic hepatic failure3RPGRIP1L CL E G H2332229168ORPHA:1454Joubert syndrome with hepatic defectHP:0040283 - Occasional167
HP:0025155HP:0006554Acute hepatic failure3RYR1 CL E G H626110483ORPHA:423Malignant hyperthermia of anesthesiaHP:0040283 - Occasional1200
HP:0025155HP:0006554Acute hepatic failure3SCYL1 CL E G H5741014372ORPHA:466794Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndromeHP:0040282 - Frequent5
HP:0025155HP:0006554Acute hepatic failure3SEMA4D CL E G H1050710732ORPHA:171Primary sclerosing cholangitisHP:0040284 - Very rare
HP:0025155HP:0100626Chronic hepatic failure3SEMA4D CL E G H1050710732ORPHA:171Primary sclerosing cholangitisHP:0040283 - Occasional
HP:0025155HP:0006554Acute hepatic failure3SH2D1A CL E G H406810820OMIM:308240Lymphoproliferative syndrome, X-linked, 137
HP:0025155HP:0100626Chronic hepatic failure3SP110 CL E G H34315401ORPHA:79124Hepatic veno-occlusive disease-immunodeficiency syndromeHP:0040283 - Occasional49
HP:0025155HP:0100626Chronic hepatic failure3TCF4 CL E G H692511634ORPHA:171Primary sclerosing cholangitisHP:0040283 - Occasional241
HP:0025155HP:0006554Acute hepatic failure3TCF4 CL E G H692511634ORPHA:171Primary sclerosing cholangitisHP:0040284 - Very rare241
HP:0025155HP:0100626Chronic hepatic failure3TMEM67 CL E G H9114728396ORPHA:1454Joubert syndrome with hepatic defectHP:0040283 - Occasional166
HP:0025155HP:0006554Acute hepatic failure3TRMU CL E G H5568725481OMIM:613070Liver failure, infantile, transient.101
HP:0025155HP:0006583Fatal liver failure in infancy3TRNT CL E G H45767499ORPHA:254857Lethal infantile mitochondrial myopathyHP:0040283 - Occasional
HP:0025155HP:0006554Acute hepatic failure3XIAP CL E G H331592OMIM:308240Lymphoproliferative syndrome, X-linked, 181
HP:0025155HP:0006554Acute hepatic failure3ZNFX1 CL E G H5716929271OMIM:619644IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91
HP:0025155HP:0004448Fulminant hepatic failure4GFM1 CL E G H8547613780OMIM:609060Combined oxidative phosphorylation deficiency 185
HP:0025155HP:0004448Fulminant hepatic failure4HADH CL E G H30334799OMIM:2315303-Hydroxyacyl-Coa dehydrogenase deficiency.41
HP:0025155HP:0004448Fulminant hepatic failure4IL18BP CL E G H100685987OMIM:618549HEPATITIS, FULMINANT VIRAL, SUSCEPTIBILITY TO; FVH
HP:0025155HP:0004448Fulminant hepatic failure4KRT18 CL E G H38756430OMIM:215600Cirrhosis, familial19
HP:0025155HP:0004448Fulminant hepatic failure4SH2D1A CL E G H406810820OMIM:308240Lymphoproliferative syndrome, X-linked, 137
HP:0025155HP:0004448Fulminant hepatic failure4XIAP CL E G H331592OMIM:308240Lymphoproliferative syndrome, X-linked, 181
HP:0025155HP:0004787Fulminant hepatitis5IL18BP CL E G H100685987OMIM:618549HEPATITIS, FULMINANT VIRAL, SUSCEPTIBILITY TO; FVH
HP:0025155HP:0004787Fulminant hepatitis5KRT18 CL E G H38756430OMIM:215600Cirrhosis, familial19
HP:0025155HP:0004787Fulminant hepatitis5SH2D1A CL E G H406810820OMIM:308240Lymphoproliferative syndrome, X-linked, 137
HP:0025155HP:0004787Fulminant hepatitis5XIAP CL E G H331592OMIM:308240Lymphoproliferative syndrome, X-linked, 181


Genes (217) :ABCD3 ACAD9 ACADM ACTG2 ACVRL1 AKR1D1 ALDOB ALG1 ALG3 ALG8 ALMS1 AMACR ASAH1 ASXL1 ATP6 ATP6AP2 ATP7B ATRX BAAT BCS1L BLVRA BMP6 BTNL2 CACNA1S CALR CBL CC2D2A CCDC115 CCDC47 CEP164 COA8 COG2 COG4 COG7 COQ2 COX16 CPT1A CPT2 CTC1 CYC1 CYP7B1 DAXX DCDC2 DDOST DEF6 DGUOK DKC1 DLD EIF2AK3 ENG EPM2A F13A1 F13B F5 FADD FAH FARSB FBP1 FECH FH FOCAD GALM GALT GANAB GATC GBA1 GBE1 GDF2 GFM1 GPR35 H4C3 HADH HADHA HADHB HBB HFE HLA-B HLA-DRB1 HMGCL HSD3B7 IARS1 IFT122 IFT172 IKZF1 IL12A IL12RB1 IL18BP IL21R INPP5E IRF5 ITCH JAG1 JAK2 KRT18 LARS1 LARS2 LIPA LIPT1 LRPPRC LYST MARS1 MED12 MEFV MICOS13 MMEL1 MPI MPV17 MRM2 MRPS23 MRPS7 MST1 NAGS NBAS ND1 ND2 ND3 ND4 ND5 ND6 NDUFAF3 NDUFB8 NDUFS2 NDUFS4 NHLRC1 NHP2 NOP10 NPC1 NPM1 NR1H4 OCLN OSTM1 OTC P4HA2 PARN PARS2 PCK1 PCK2 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PIGA PNPT1 POLG POLG2 PORCN POU2AF1 PRF1 PTPN22 QRSL1 RINT1 RMND1 RNU12 RPGRIP1L RTEL1 RUNX1 RYR1 SC5D SCO2 SCYL1 SEMA4D SERPINA1 SH2D1A SKIC3 SLC25A15 SLC25A20 SLC2A2 SLC30A10 SLC39A8 SLC7A7 SMAD4 SMPD1 SP110 SPIB SRSF2 STX11 STXBP2 SURF1 TALDO1 TCF4 TERC TERT TET2 TFAM TINF2 TJP2 TMEM199 TMEM67 TNFSF15 TNPO3 TRMT10C TRMU TRNK TRNL1 TRNN TRNS1 TRNT TRNV TRNW TYMS UBR1 UNC13D UQCRC2 USB1 VPS51 WRAP53 XIAP ZNFX1

Diseases (170) :OMIM:616278 ORPHA:99901 OMIM:611126 ORPHA:42 OMIM:619431 ORPHA:774 OMIM:235555 ORPHA:79303 ORPHA:469 ORPHA:79327 ORPHA:79321 OMIM:608104 ORPHA:64 OMIM:214950 ORPHA:333 ORPHA:98850 ORPHA:255210 OMIM:301045 OMIM:277900 ORPHA:905 ORPHA:100075 OMIM:619232 OMIM:124000 OMIM:614156 ORPHA:465508 ORPHA:797 ORPHA:423 ORPHA:131 ORPHA:1454 OMIM:616828 OMIM:618268 OMIM:614845 ORPHA:436271 ORPHA:435934 ORPHA:263501 OMIM:613489 OMIM:608779 OMIM:607426 OMIM:619355 ORPHA:156 ORPHA:228308 ORPHA:228305 ORPHA:1775 OMIM:615453 OMIM:613812 ORPHA:79302 OMIM:617394 OMIM:614507 OMIM:619573 OMIM:251880 OMIM:246900 ORPHA:2394 ORPHA:1667 ORPHA:501 OMIM:254780 ORPHA:331 ORPHA:306550 ORPHA:882 OMIM:276700 OMIM:613658 ORPHA:348 ORPHA:79278 OMIM:177000 OMIM:606812 OMIM:619991 ORPHA:570422 ORPHA:79239 OMIM:230400 OMIM:600666 OMIM:618839 OMIM:608013 OMIM:232500 OMIM:609060 ORPHA:171 OMIM:619758 OMIM:231530 ORPHA:71212 ORPHA:746 ORPHA:231222 ORPHA:397 ORPHA:36426 ORPHA:20 OMIM:607765 ORPHA:541423 OMIM:617093 OMIM:218330 OMIM:615630 ORPHA:186 OMIM:618549 OMIM:615207 ORPHA:228426 OMIM:118450 OMIM:215600 OMIM:615438 OMIM:617021 ORPHA:75234 OMIM:278000 ORPHA:75233 OMIM:616299 ORPHA:70472 ORPHA:167 OMIM:615486 OMIM:301068 ORPHA:342 OMIM:618329 OMIM:602579 ORPHA:79319 OMIM:256810 OMIM:618567 OMIM:618952 OMIM:617872 ORPHA:927 OMIM:616483 ORPHA:70474 OMIM:252010 OMIM:257220 OMIM:617049 OMIM:251290 OMIM:259720 ORPHA:664 OMIM:618437 OMIM:261680 OMIM:261650 ORPHA:912 OMIM:614870 OMIM:614871 OMIM:614883 OMIM:614877 OMIM:614886 OMIM:614867 OMIM:614873 OMIM:614863 OMIM:301072 OMIM:614932 OMIM:203700 OMIM:618528 ORPHA:2092 ORPHA:540 OMIM:618835 OMIM:618641 OMIM:614922 ORPHA:512260 ORPHA:466650 ORPHA:46059 ORPHA:466794 OMIM:616719 ORPHA:60 OMIM:308240 OMIM:222470 OMIM:238970 ORPHA:415 ORPHA:159 ORPHA:2088 OMIM:613280 ORPHA:468699 ORPHA:470 ORPHA:77293 ORPHA:79124 OMIM:220110 OMIM:606003 OMIM:617156 OMIM:615878 OMIM:616829 OMIM:616974 OMIM:613070 ORPHA:254857 OMIM:243800 OMIM:615160 OMIM:618606 OMIM:619644
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.