Human Phenotype Ontology 
Grandparent Node:
expand
Abnormality of the liver (HP:0001392)help
Parent Node:
expand
Abnormal liver morphology (HP:0410042)help
..Starting node
..expand
Cirrhosis (HP:0001394)help
Term ID: 1394
Name: Cirrhosis
Synonym: Hepatic cirrhosis; Liver cirrhosis; Scar tissue replaces healthy tissue in the liver
Definition: A chronic disorder of the liver in which liver tissue becomes scarred and is partially replaced by regenerative nodules and fibrotic tissue resulting in loss of liver function.
Comments:
Reference: HP:0001394
Genes and Diseases:
 
       Child Nodes:
........expandMicronodular cirrhosis (HP:0001413) help
........expandMacronodular cirrhosis (HP:0006577) help
........expandMixed cirrhosis (HP:0011005) help

 Sister Nodes: 
..expandAbnormal hepatic glycogen storage (HP:0500030) help
..expandAbnormal hepatic iron concentration (HP:0040134) help
..expandAbnormal liver parenchyma morphology (HP:0030146) help
..expandAbnormality of the hepatic vasculature (HP:0006707) help
..expandCystic liver disease (HP:0006706) help
..expandDecreased carnitine level in liver (HP:0045061) help
..expandDegenerative liver disease (HP:0005237) help
..expandDepletion of mitochondrial DNA in liver (HP:0006581) help
..expandEctopic liver (HP:0030722) help
..expandElevated hepatic transaminase (HP:0002910) help
..expandHepatic agenesis (HP:0100839) help
..expandHepatic amyloidosis (HP:0012280) help
..expandHepatic calcification (HP:0006559) help
..expandHepatic fibrosis (HP:0001395) help
..expandHepatic granulomatosis (HP:0011955) help
..expandHepatic necrosis (HP:0002605) help
..expandHepatitis (HP:0012115) help
..expandHepatomegaly (HP:0002240) help
..expandHepatosplenomegaly (HP:0001433) help
..expandLiver abscess (HP:0100523) help
..expandNodular regenerative hyperplasia of liver (HP:0011954) help
..expandStorage in hepatocytes (HP:0031137) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0001394HP:0001394Cirrhosis0ABCB11 CL E G H8647601847Progressive familial intrahepatic cholestasis 2601847C3489789OMIM133135642603201
HP:0001394HP:0001394Cirrhosis0ABCB4 CL E G H5244602347Progressive familial intrahepatic cholestasis 3602347C1865643OMIM124428045171060
HP:0001394HP:0001394Cirrhosis0ACVRL1 CL E G H94600376Hereditary hemorrhagic telangiectasia type 2600376C1838163OMIM1432329175601284
HP:0001394HP:0001394Cirrhosis0AGPAT2 CL E G H10555608594Congenital generalized lipodystrophy type 1608594C1720862OMIM143145325603100
HP:0001394HP:0001394Cirrhosis0AKR1D1 CL E G H671879303ORPHA115130388604741
HP:0001394HP:0001394Cirrhosis0ALDOB CL E G H229229600Hereditary fructosuria229600C0016751OMIM167159417612724
HP:0001394HP:0001394Cirrhosis0AP1S1 CL E G H1174609313Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma609313C1836330OMIM1223559603531
HP:0001394HP:0001394Cirrhosis0APOE CL E G H348269600Sea-blue histiocyte syndrome269600C0036489OMIM16451613107741
HP:0001394HP:0001394Cirrhosis0ASS1 CL E G H445215700Citrullinemia type I215700C0175683OMIM1157241758603470
HP:0001394HP:0001394Cirrhosis0ATP6AP1 CL E G H537300972Immunodeficiency 47300972C4310819OMIM15214868300197
HP:0001394HP:0001394Cirrhosis0ATP7B CL E G H540905ORPHA1938702870606882
HP:0001394HP:0001394Cirrhosis0ATP7B CL E G H540277900Wilson disease277900C0019202OMIM1938702870606882
HP:0001394HP:0001394Cirrhosis0ATP8B1 CL E G H5205211600Progressive intrahepatic cholestasis211600C0268312OMIM11402943706602397
HP:0001394HP:0001394Cirrhosis0BCS1L CL E G H61753693ORPHA1371401020603647
HP:0001394HP:0001394Cirrhosis0BSCL2 CL E G H26580269700Congenital generalized lipodystrophy type 2269700C1720863OMIM15019115832606158
HP:0001394HP:0001394Cirrhosis0CC2D2A CL E G H57545216360COACH syndrome216360C1857662OMIM19645129253612013
HP:0001394HP:0001394Cirrhosis0CCDC115 CL E G H84317616828CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIo616828C4225191OMIM154228178613734
HP:0001394HP:0001394Cirrhosis0COG4 CL E G H25839263501ORPHA1613518620606976
HP:0001394HP:0001394Cirrhosis0CYP7B1 CL E G H9420613812Bile acid synthesis defect, congenital, 3613812C3151147OMIM1631612652603711
HP:0001394HP:0001394Cirrhosis0DCDC2 CL E G H51473617394Sclerosing cholangitis, neonatal617394C4479344OMIM1119218141605755
HP:0001394HP:0001394Cirrhosis0DKC1 CL E G H1736305000Dyskeratosis congenita X-linked305000C1148551OMIM1752762890300126
HP:0001394HP:0001394Cirrhosis0ENG CL E G H2022187300Osler hemorrhagic telangiectasia syndrome187300C0039445OMIM14974583349131195
HP:0001394HP:0001394Cirrhosis0F5 CL E G H2153131Myeloid sarcomaORPHA11691843542612309
HP:0001394HP:0001394Cirrhosis0FAH CL E G H2184276700Tyrosinemia type I276700C0268490OMIM11021993579613871
HP:0001394HP:0001394Cirrhosis0GALT CL E G H2592230400Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase230400C0268151OMIM13374914135606999
HP:0001394HP:0001394Cirrhosis0GBE1 CL E G H2632232500Glycogen storage disease, type IV232500C0017923OMIM1741484180607839
HP:0001394HP:0001394Cirrhosis0GPR35 CL E G H2859171Le Marec Bracq Picaud syndromeORPHA12864492602646
HP:0001394HP:0001394Cirrhosis0HAMP CL E G H57817613313Hemochromatosis type 2B613313C1865616OMIM1163215598606464
HP:0001394HP:0001394Cirrhosis0HFE CL E G H3077235200Hemochromatosis type 1235200C3469186OMIM161654886613609
HP:0001394HP:0001394Cirrhosis0HSD3B7 CL E G H80270607765Bile acid synthesis defect, congenital, 1607765C1843116OMIM1269218324607764
HP:0001394HP:0001394Cirrhosis0IL12A CL E G H3592186ORPHA12185969161560
HP:0001394HP:0001394Cirrhosis0IL12RB1 CL E G H3594186ORPHA1881145971601604
HP:0001394HP:0001394Cirrhosis0IL21R CL E G H50615615207IL21R immunodeficiency615207C3554687OMIM110806006605383
HP:0001394HP:0001394Cirrhosis0IRF5 CL E G H3663186ORPHA110286120607218
HP:0001394HP:0001394Cirrhosis0JAG1 CL E G H182118450Alagille syndrome 1118450C1956125OMIM16205016188601920
HP:0001394HP:0001394Cirrhosis0JAK2 CL E G H3717131Myeloid sarcomaORPHA1262346192147796
HP:0001394HP:0001394Cirrhosis0KRT18 CL E G H3875118900Familial cirrhosis118900C1861556OMIM115296430148070
HP:0001394HP:0001394Cirrhosis0LIPA CL E G H3988278000Lysosomal acid lipase deficiency278000C0043208OMIM1961586617613497
HP:0001394HP:0001394Cirrhosis0MMEL1 CL E G H79258186ORPHA1111214668618104
HP:0001394HP:0001394Cirrhosis0MPI CL E G H4351602579Congenital disorder of glycosylation type 1B602579C1865145OMIM1211187216154550
HP:0001394HP:0001394Cirrhosis0MPV17 CL E G H4358256810Navajo neurohepatopathy256810C1850406OMIM150947224137960
HP:0001394HP:0001394Cirrhosis0MST1 CL E G H4485171Le Marec Bracq Picaud syndromeORPHA11107380142408
HP:0001394HP:0001394Cirrhosis0NHP2 CL E G H55651613987Dyskeratosis congenita, autosomal recessive 2613987C3151441OMIM137814377606470
HP:0001394HP:0001394Cirrhosis0NPHP3 CL E G H27031208540Renal-hepatic-pancreatic dysplasia208540C2673883OMIM1763297907608002
HP:0001394HP:0001394Cirrhosis0NR1H4 CL E G H9971617049Cholestasis, progressive familial intrahepatic, 5617049C4310747OMIM18607967603826
HP:0001394HP:0001394Cirrhosis0PEX1 CL E G H5189601539Peroxisome biogenesis disorder 1B601539CN168921OMIM11403398850602136
HP:0001394HP:0001394Cirrhosis0PHKG2 CL E G H5261613027Glycogen storage disease IXc613027C2751643OMIM133858931172471
HP:0001394HP:0001394Cirrhosis0POU2AF1 CL E G H5450186ORPHA1199211601206
HP:0001394HP:0001394Cirrhosis0PPARG CL E G H5468604367Familial partial lipodystrophy 3604367C1720861OMIM154719236601487
HP:0001394HP:0001394Cirrhosis0RPGRIP1L CL E G H23322216360COACH syndrome216360C1857662OMIM15125529168610937
HP:0001394HP:0001394Cirrhosis0SFTPA2 CL E G H729238178500Idiopathic fibrosing alveolitis, chronic form178500C1800706OMIM182510799178642
HP:0001394HP:0001394Cirrhosis0SFTPC CL E G H6440178500Idiopathic fibrosing alveolitis, chronic form178500C1800706OMIM18712310802178620
HP:0001394HP:0001394Cirrhosis0SKIV2L CL E G H6499614602Trichohepatoenteric syndrome 2614602C3281289OMIM1368210898600478
HP:0001394HP:0001394Cirrhosis0SLC25A13 CL E G H10165605814Neonatal intrahepatic cholestasis caused by citrin deficiency605814C1853942OMIM111516310983603859
HP:0001394HP:0001394Cirrhosis0SLC30A10 CL E G H55532613280Hypermanganesemia with dystonia 1613280OMIM1226625355611146
HP:0001394HP:0001394Cirrhosis0SPIB CL E G H6689186ORPHA111211242606802
HP:0001394HP:0001394Cirrhosis0TALDO1 CL E G H6888101028ORPHA1106211559602063
HP:0001394HP:0001394Cirrhosis0TALDO1 CL E G H6888606003Deficiency of transaldolase606003C1291329OMIM1106211559602063
HP:0001394HP:0001394Cirrhosis0TCF4 CL E G H6925171Le Marec Bracq Picaud syndromeORPHA114846411634602272
HP:0001394HP:0001394Cirrhosis0TERC CL E G H7012127550Dyskeratosis congenita autosomal dominant127550C1851970OMIM17412311727602322
HP:0001394HP:0001394Cirrhosis0TERT CL E G H7015127550Dyskeratosis congenita autosomal dominant127550C1851970OMIM117375311730187270
HP:0001394HP:0001394Cirrhosis0TERT CL E G H7015178500Idiopathic fibrosing alveolitis, chronic form178500C1800706OMIM117375311730187270
HP:0001394HP:0001394Cirrhosis0TFAM CL E G H7019617156Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)617156C4310690OMIM142711741600438
HP:0001394HP:0001394Cirrhosis0TFR2 CL E G H7036604250Hemochromatosis type 3604250C1858664OMIM15411511762604720
HP:0001394HP:0001394Cirrhosis0TINF2 CL E G H26277127550Dyskeratosis congenita autosomal dominant127550C1851970OMIM14211211824604319
HP:0001394HP:0001394Cirrhosis0TMEM67 CL E G H91147216360COACH syndrome216360C1857662OMIM117426128396609884
HP:0001394HP:0001394Cirrhosis0TNFSF15 CL E G H9966186ORPHA123011931604052
HP:0001394HP:0001394Cirrhosis0TNPO3 CL E G H23534186ORPHA1519217103610032
HP:0001394HP:0001394Cirrhosis0TRMT5 CL E G H57570616539Combined oxidative phosphorylation deficiency 26616539C4225290OMIM142023141611023
HP:0001394HP:0001394Cirrhosis0TTC37 CL E G H9652222470Trichohepatoenteric syndrome 1222470CN034858OMIM1648223639614589
HP:0001394HP:0001394Cirrhosis0UROD CL E G H7389176100Familial porphyria cutanea tarda176100C0268323OMIM11234312591613521
HP:0001394HP:0001394Cirrhosis1ABCB11 CL E G H8647601847Progressive familial intrahepatic cholestasis 2601847C3489789OMIM133135642603201
HP:0001394HP:0001394Cirrhosis1ABCB4 CL E G H5244602347Progressive familial intrahepatic cholestasis 3602347C1865643OMIM124428045171060
HP:0001394HP:0001394Cirrhosis1ACVRL1 CL E G H94600376Hereditary hemorrhagic telangiectasia type 2600376C1838163OMIM1432329175601284
HP:0001394HP:0001394Cirrhosis1AGPAT2 CL E G H10555608594Congenital generalized lipodystrophy type 1608594C1720862OMIM143145325603100
HP:0001394HP:0001394Cirrhosis1AKR1D1 CL E G H671879303ORPHA115130388604741
HP:0001394HP:0001394Cirrhosis1ALDOB CL E G H229229600Hereditary fructosuria229600C0016751OMIM167159417612724
HP:0001394HP:0001394Cirrhosis1AP1S1 CL E G H1174609313Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma609313C1836330OMIM1223559603531
HP:0001394HP:0001394Cirrhosis1APOE CL E G H348269600Sea-blue histiocyte syndrome269600C0036489OMIM16451613107741
HP:0001394HP:0001394Cirrhosis1ASS1 CL E G H445215700Citrullinemia type I215700C0175683OMIM1157241758603470
HP:0001394HP:0001394Cirrhosis1ATP6AP1 CL E G H537300972Immunodeficiency 47300972C4310819OMIM15214868300197
HP:0001394HP:0001394Cirrhosis1ATP7B CL E G H540905ORPHA1938702870606882
HP:0001394HP:0001394Cirrhosis1ATP7B CL E G H540277900Wilson disease277900C0019202OMIM1938702870606882
HP:0001394HP:0001394Cirrhosis1ATP8B1 CL E G H5205211600Progressive intrahepatic cholestasis211600C0268312OMIM11402943706602397
HP:0001394HP:0001394Cirrhosis1BCS1L CL E G H61753693ORPHA1371401020603647
HP:0001394HP:0001394Cirrhosis1BSCL2 CL E G H26580269700Congenital generalized lipodystrophy type 2269700C1720863OMIM15019115832606158
HP:0001394HP:0001394Cirrhosis1CC2D2A CL E G H57545216360COACH syndrome216360C1857662OMIM19645129253612013
HP:0001394HP:0001394Cirrhosis1CCDC115 CL E G H84317616828CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIo616828C4225191OMIM154228178613734
HP:0001394HP:0001394Cirrhosis1COG4 CL E G H25839263501ORPHA1613518620606976
HP:0001394HP:0001394Cirrhosis1CYP7B1 CL E G H9420613812Bile acid synthesis defect, congenital, 3613812C3151147OMIM1631612652603711
HP:0001394HP:0001394Cirrhosis1DCDC2 CL E G H51473617394Sclerosing cholangitis, neonatal617394C4479344OMIM1119218141605755
HP:0001394HP:0001394Cirrhosis1DKC1 CL E G H1736305000Dyskeratosis congenita X-linked305000C1148551OMIM1752762890300126
HP:0001394HP:0001394Cirrhosis1ENG CL E G H2022187300Osler hemorrhagic telangiectasia syndrome187300C0039445OMIM14974583349131195
HP:0001394HP:0001394Cirrhosis1F5 CL E G H2153131Myeloid sarcomaORPHA11691843542612309
HP:0001394HP:0001394Cirrhosis1FAH CL E G H2184276700Tyrosinemia type I276700C0268490OMIM11021993579613871
HP:0001394HP:0001394Cirrhosis1GALT CL E G H2592230400Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase230400C0268151OMIM13374914135606999
HP:0001394HP:0001394Cirrhosis1GBE1 CL E G H2632232500Glycogen storage disease, type IV232500C0017923OMIM1741484180607839
HP:0001394HP:0001394Cirrhosis1GPR35 CL E G H2859171Le Marec Bracq Picaud syndromeORPHA12864492602646
HP:0001394HP:0001394Cirrhosis1HAMP CL E G H57817613313Hemochromatosis type 2B613313C1865616OMIM1163215598606464
HP:0001394HP:0001394Cirrhosis1HFE CL E G H3077235200Hemochromatosis type 1235200C3469186OMIM161654886613609
HP:0001394HP:0001394Cirrhosis1HSD3B7 CL E G H80270607765Bile acid synthesis defect, congenital, 1607765C1843116OMIM1269218324607764
HP:0001394HP:0001394Cirrhosis1IL12A CL E G H3592186ORPHA12185969161560
HP:0001394HP:0001394Cirrhosis1IL12RB1 CL E G H3594186ORPHA1881145971601604
HP:0001394HP:0001394Cirrhosis1IL21R CL E G H50615615207IL21R immunodeficiency615207C3554687OMIM110806006605383
HP:0001394HP:0001394Cirrhosis1IRF5 CL E G H3663186ORPHA110286120607218
HP:0001394HP:0001394Cirrhosis1JAG1 CL E G H182118450Alagille syndrome 1118450C1956125OMIM16205016188601920
HP:0001394HP:0001394Cirrhosis1JAK2 CL E G H3717131Myeloid sarcomaORPHA1262346192147796
HP:0001394HP:0001394Cirrhosis1KRT18 CL E G H3875118900Familial cirrhosis118900C1861556OMIM115296430148070
HP:0001394HP:0001394Cirrhosis1LIPA CL E G H3988278000Lysosomal acid lipase deficiency278000C0043208OMIM1961586617613497
HP:0001394HP:0001394Cirrhosis1MMEL1 CL E G H79258186ORPHA1111214668618104
HP:0001394HP:0001394Cirrhosis1MPI CL E G H4351602579Congenital disorder of glycosylation type 1B602579C1865145OMIM1211187216154550
HP:0001394HP:0001394Cirrhosis1MPV17 CL E G H4358256810Navajo neurohepatopathy256810C1850406OMIM150947224137960
HP:0001394HP:0001394Cirrhosis1MST1 CL E G H4485171Le Marec Bracq Picaud syndromeORPHA11107380142408
HP:0001394HP:0001394Cirrhosis1NHP2 CL E G H55651613987Dyskeratosis congenita, autosomal recessive 2613987C3151441OMIM137814377606470
HP:0001394HP:0001394Cirrhosis1NPHP3 CL E G H27031208540Renal-hepatic-pancreatic dysplasia208540C2673883OMIM1763297907608002
HP:0001394HP:0001394Cirrhosis1NR1H4 CL E G H9971617049Cholestasis, progressive familial intrahepatic, 5617049C4310747OMIM18607967603826
HP:0001394HP:0001394Cirrhosis1PEX1 CL E G H5189601539Peroxisome biogenesis disorder 1B601539CN168921OMIM11403398850602136
HP:0001394HP:0001394Cirrhosis1PHKG2 CL E G H5261613027Glycogen storage disease IXc613027C2751643OMIM133858931172471
HP:0001394HP:0001394Cirrhosis1POU2AF1 CL E G H5450186ORPHA1199211601206
HP:0001394HP:0001394Cirrhosis1PPARG CL E G H5468604367Familial partial lipodystrophy 3604367C1720861OMIM154719236601487
HP:0001394HP:0001394Cirrhosis1RPGRIP1L CL E G H23322216360COACH syndrome216360C1857662OMIM15125529168610937
HP:0001394HP:0001394Cirrhosis1SFTPA2 CL E G H729238178500Idiopathic fibrosing alveolitis, chronic form178500C1800706OMIM182510799178642
HP:0001394HP:0001394Cirrhosis1SFTPC CL E G H6440178500Idiopathic fibrosing alveolitis, chronic form178500C1800706OMIM18712310802178620
HP:0001394HP:0001394Cirrhosis1SKIV2L CL E G H6499614602Trichohepatoenteric syndrome 2614602C3281289OMIM1368210898600478
HP:0001394HP:0001394Cirrhosis1SLC25A13 CL E G H10165605814Neonatal intrahepatic cholestasis caused by citrin deficiency605814C1853942OMIM111516310983603859
HP:0001394HP:0001394Cirrhosis1SLC30A10 CL E G H55532613280Hypermanganesemia with dystonia 1613280OMIM1226625355611146
HP:0001394HP:0001394Cirrhosis1SPIB CL E G H6689186ORPHA111211242606802
HP:0001394HP:0001394Cirrhosis1TALDO1 CL E G H6888101028ORPHA1106211559602063
HP:0001394HP:0001394Cirrhosis1TALDO1 CL E G H6888606003Deficiency of transaldolase606003C1291329OMIM1106211559602063
HP:0001394HP:0001394Cirrhosis1TCF4 CL E G H6925171Le Marec Bracq Picaud syndromeORPHA114846411634602272
HP:0001394HP:0001394Cirrhosis1TERC CL E G H7012127550Dyskeratosis congenita autosomal dominant127550C1851970OMIM17412311727602322
HP:0001394HP:0001394Cirrhosis1TERT CL E G H7015127550Dyskeratosis congenita autosomal dominant127550C1851970OMIM117375311730187270
HP:0001394HP:0001394Cirrhosis1TERT CL E G H7015178500Idiopathic fibrosing alveolitis, chronic form178500C1800706OMIM117375311730187270
HP:0001394HP:0001394Cirrhosis1TFAM CL E G H7019617156Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)617156C4310690OMIM142711741600438
HP:0001394HP:0001394Cirrhosis1TFR2 CL E G H7036604250Hemochromatosis type 3604250C1858664OMIM15411511762604720
HP:0001394HP:0001394Cirrhosis1TINF2 CL E G H26277127550Dyskeratosis congenita autosomal dominant127550C1851970OMIM14211211824604319
HP:0001394HP:0001394Cirrhosis1TMEM67 CL E G H91147216360COACH syndrome216360C1857662OMIM117426128396609884
HP:0001394HP:0001394Cirrhosis1TNFSF15 CL E G H9966186ORPHA123011931604052
HP:0001394HP:0001394Cirrhosis1TNPO3 CL E G H23534186ORPHA1519217103610032
HP:0001394HP:0001394Cirrhosis1TRMT5 CL E G H57570616539Combined oxidative phosphorylation deficiency 26616539C4225290OMIM142023141611023
HP:0001394HP:0001394Cirrhosis1TTC37 CL E G H9652222470Trichohepatoenteric syndrome 1222470CN034858OMIM1648223639614589
HP:0001394HP:0001394Cirrhosis1UROD CL E G H7389176100Familial porphyria cutanea tarda176100C0268323OMIM11234312591613521
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001394HP:0001394Cirrhosis0ACVRL1 CL E G H94774ORPHA0432329175601284
HP:0001394HP:0001394Cirrhosis0AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA043145325603100
HP:0001394HP:0001394Cirrhosis0ALMS1 CL E G H784064ORPHA03161383428606844
HP:0001394HP:0001394Cirrhosis0AMACR CL E G H2360079095ORPHA014113451604489
HP:0001394HP:0001394Cirrhosis0ARHGAP31 CL E G H57514974Brachydactyly small stature face anomaliesORPHA0717029216610911
HP:0001394HP:0001394Cirrhosis0BSCL2 CL E G H26580363400ORPHA05019115832606158
HP:0001394HP:0001394Cirrhosis0BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA05019115832606158
HP:0001394HP:0001394Cirrhosis0CAV1 CL E G H857528Acute myeloblastic leukemia type 3ORPHA013451527601047
HP:0001394HP:0001394Cirrhosis0CAVIN1 CL E G H284119528Acute myeloblastic leukemia type 3ORPHA015599688603198
HP:0001394HP:0001394Cirrhosis0CC2D2A CL E G H575451454Common atrioventricular canalC0221215ORPHA09645129253612013
HP:0001394HP:0001394Cirrhosis0COG4 CL E G H25839613489Congenital disorder of glycosylation type 2J613489C3150736OMIM0613518620606976
HP:0001394HP:0001394Cirrhosis0CTC1 CL E G H801691775Chromosome 4, monosomy 4p14 p16CN036837ORPHA03430126169613129
HP:0001394HP:0001394Cirrhosis0DKC1 CL E G H17361775Chromosome 4, monosomy 4p14 p16CN036837ORPHA0752762890300126
HP:0001394HP:0001394Cirrhosis0DLL4 CL E G H54567974Brachydactyly small stature face anomaliesORPHA019252910605185
HP:0001394HP:0001394Cirrhosis0DOCK6 CL E G H57572974Brachydactyly small stature face anomaliesORPHA0227119189614194
HP:0001394HP:0001394Cirrhosis0ENG CL E G H2022774ORPHA04974583349131195
HP:0001394HP:0001394Cirrhosis0EOGT CL E G H285203974Brachydactyly small stature face anomaliesORPHA092828526614789
HP:0001394HP:0001394Cirrhosis0FARSB CL E G H10056613658Rajab syndrome613658C3150910OMIM043517800609690
HP:0001394HP:0001394Cirrhosis0FECH CL E G H223579278ORPHA01952053647612386
HP:0001394HP:0001394Cirrhosis0FOS CL E G H2353528Acute myeloblastic leukemia type 3ORPHA02163796164810
HP:0001394HP:0001394Cirrhosis0GBA CL E G H262977259ORPHA04941594177606463
HP:0001394HP:0001394Cirrhosis0GDF2 CL E G H2658774ORPHA0171344217605120
HP:0001394HP:0001394Cirrhosis0GLRX5 CL E G H51218616860Sideroblastic anemia 3, pyridoxine-refractory616860C4225155OMIM064020134609588
HP:0001394HP:0001394Cirrhosis0HBB CL E G H3043231214ORPHA08717484827141900
HP:0001394HP:0001394Cirrhosis0HFE CL E G H3077465508ORPHA061654886613609
HP:0001394HP:0001394Cirrhosis0HJV CL E G H148738602390Hemochromatosis type 2A602390C1865614OMIM0582114887608374
HP:0001394HP:0001394Cirrhosis0HSD3B7 CL E G H8027079301ORPHA0269218324607764
HP:0001394HP:0001394Cirrhosis0IFT43 CL E G H112752614099Cranioectodermal dysplasia 3614099C3279807OMIM074029669614068
HP:0001394HP:0001394Cirrhosis0INPP5E CL E G H566231454Common atrioventricular canalC0221215ORPHA05420021474613037
HP:0001394HP:0001394Cirrhosis0LBR CL E G H3930779Arthrogryposis due to muscular dystrophyORPHA0281096518600024
HP:0001394HP:0001394Cirrhosis0LIPA CL E G H398875234Cholesteryl ester storage diseaseC0008384ORPHA0961586617613497
HP:0001394HP:0001394Cirrhosis0MARS CL E G H4141615486Interstitial lung and liver disease615486C4225400OMIM0176898156560
HP:0001394HP:0001394Cirrhosis0NHP2 CL E G H556511775Chromosome 4, monosomy 4p14 p16CN036837ORPHA037814377606470
HP:0001394HP:0001394Cirrhosis0NOP10 CL E G H555051775Chromosome 4, monosomy 4p14 p16CN036837ORPHA014614378606471
HP:0001394HP:0001394Cirrhosis0NOTCH1 CL E G H4851974Brachydactyly small stature face anomaliesORPHA012411887881190198
HP:0001394HP:0001394Cirrhosis0PARN CL E G H50731775Chromosome 4, monosomy 4p14 p16CN036837ORPHA029838609604212
HP:0001394HP:0001394Cirrhosis0PIGA CL E G H5277300868Multiple congenital anomalies-hypotonia-seizures syndrome 2300868C3275508OMIM0292708957311770
HP:0001394HP:0001394Cirrhosis0POLG CL E G H5428298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA030010159179174763
HP:0001394HP:0001394Cirrhosis0PPARG CL E G H546879083ORPHA054719236601487
HP:0001394HP:0001394Cirrhosis0PPARG CL E G H5468528Acute myeloblastic leukemia type 3ORPHA054719236601487
HP:0001394HP:0001394Cirrhosis0RBPJ CL E G H3516974Brachydactyly small stature face anomaliesORPHA010505724147183
HP:0001394HP:0001394Cirrhosis0RPGRIP1L CL E G H233221454Common atrioventricular canalC0221215ORPHA05125529168610937
HP:0001394HP:0001394Cirrhosis0RRM2B CL E G H50484298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA04318117296604712
HP:0001394HP:0001394Cirrhosis0RTEL1 CL E G H517501775Chromosome 4, monosomy 4p14 p16CN036837ORPHA05436315888608833
HP:0001394HP:0001394Cirrhosis0SCARB2 CL E G H95077259ORPHA0271881665602257
HP:0001394HP:0001394Cirrhosis0SERPINA1 CL E G H5265613490Alpha-1-antitrypsin deficiency613490C0221757OMIM01082328941107400
HP:0001394HP:0001394Cirrhosis0SLC40A1 CL E G H30061139491ORPHA0679010909604653
HP:0001394HP:0001394Cirrhosis0SMAD4 CL E G H4089774ORPHA01479366770600993
HP:0001394HP:0001394Cirrhosis0TERC CL E G H70121775Chromosome 4, monosomy 4p14 p16CN036837ORPHA07412311727602322
HP:0001394HP:0001394Cirrhosis0TERT CL E G H70151775Chromosome 4, monosomy 4p14 p16CN036837ORPHA017375311730187270
HP:0001394HP:0001394Cirrhosis0TINF2 CL E G H262771775Chromosome 4, monosomy 4p14 p16CN036837ORPHA04211211824604319
HP:0001394HP:0001394Cirrhosis0TMEM67 CL E G H911471454Common atrioventricular canalC0221215ORPHA017426128396609884
HP:0001394HP:0001394Cirrhosis0TYMP CL E G H1890298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA0952943148131222
HP:0001394HP:0001394Cirrhosis0USB1 CL E G H796501775Chromosome 4, monosomy 4p14 p16CN036837ORPHA0225225792613276
HP:0001394HP:0001394Cirrhosis0WRAP53 CL E G H551351775Chromosome 4, monosomy 4p14 p16CN036837ORPHA078625522612661
HP:0001394HP:0001394Cirrhosis1ACVRL1 CL E G H94774ORPHA0432329175601284
HP:0001394HP:0001394Cirrhosis1AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA043145325603100
HP:0001394HP:0001394Cirrhosis1ALMS1 CL E G H784064ORPHA03161383428606844
HP:0001394HP:0001394Cirrhosis1AMACR CL E G H2360079095ORPHA014113451604489
HP:0001394HP:0001394Cirrhosis1ARHGAP31 CL E G H57514974Brachydactyly small stature face anomaliesORPHA0717029216610911
HP:0001394HP:0001394Cirrhosis1BSCL2 CL E G H26580363400ORPHA05019115832606158
HP:0001394HP:0001394Cirrhosis1BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA05019115832606158
HP:0001394HP:0001394Cirrhosis1CAV1 CL E G H857528Acute myeloblastic leukemia type 3ORPHA013451527601047
HP:0001394HP:0001394Cirrhosis1CAVIN1 CL E G H284119528Acute myeloblastic leukemia type 3ORPHA015599688603198
HP:0001394HP:0001394Cirrhosis1CC2D2A CL E G H575451454Common atrioventricular canalC0221215ORPHA09645129253612013
HP:0001394HP:0001394Cirrhosis1COG4 CL E G H25839613489Congenital disorder of glycosylation type 2J613489C3150736OMIM0613518620606976
HP:0001394HP:0001394Cirrhosis1CTC1 CL E G H801691775Chromosome 4, monosomy 4p14 p16CN036837ORPHA03430126169613129
HP:0001394HP:0001394Cirrhosis1DKC1 CL E G H17361775Chromosome 4, monosomy 4p14 p16CN036837ORPHA0752762890300126
HP:0001394HP:0001394Cirrhosis1DLL4 CL E G H54567974Brachydactyly small stature face anomaliesORPHA019252910605185
HP:0001394HP:0001394Cirrhosis1DOCK6 CL E G H57572974Brachydactyly small stature face anomaliesORPHA0227119189614194
HP:0001394HP:0001394Cirrhosis1ENG CL E G H2022774ORPHA04974583349131195
HP:0001394HP:0001394Cirrhosis1EOGT CL E G H285203974Brachydactyly small stature face anomaliesORPHA092828526614789
HP:0001394HP:0001394Cirrhosis1FARSB CL E G H10056613658Rajab syndrome613658C3150910OMIM043517800609690
HP:0001394HP:0001394Cirrhosis1FECH CL E G H223579278ORPHA01952053647612386
HP:0001394HP:0001394Cirrhosis1FOS CL E G H2353528Acute myeloblastic leukemia type 3ORPHA02163796164810
HP:0001394HP:0001394Cirrhosis1GBA CL E G H262977259ORPHA04941594177606463
HP:0001394HP:0001394Cirrhosis1GDF2 CL E G H2658774ORPHA0171344217605120
HP:0001394HP:0001394Cirrhosis1GLRX5 CL E G H51218616860Sideroblastic anemia 3, pyridoxine-refractory616860C4225155OMIM064020134609588
HP:0001394HP:0001394Cirrhosis1HBB CL E G H3043231214ORPHA08717484827141900
HP:0001394HP:0001394Cirrhosis1HFE CL E G H3077465508ORPHA061654886613609
HP:0001394HP:0001394Cirrhosis1HJV CL E G H148738602390Hemochromatosis type 2A602390C1865614OMIM0582114887608374
HP:0001394HP:0001394Cirrhosis1HSD3B7 CL E G H8027079301ORPHA0269218324607764
HP:0001394HP:0001394Cirrhosis1IFT43 CL E G H112752614099Cranioectodermal dysplasia 3614099C3279807OMIM074029669614068
HP:0001394HP:0001394Cirrhosis1INPP5E CL E G H566231454Common atrioventricular canalC0221215ORPHA05420021474613037
HP:0001394HP:0001394Cirrhosis1LBR CL E G H3930779Arthrogryposis due to muscular dystrophyORPHA0281096518600024
HP:0001394HP:0001394Cirrhosis1LIPA CL E G H398875234Cholesteryl ester storage diseaseC0008384ORPHA0961586617613497
HP:0001394HP:0001394Cirrhosis1MARS CL E G H4141615486Interstitial lung and liver disease615486C4225400OMIM0176898156560
HP:0001394HP:0001394Cirrhosis1NHP2 CL E G H556511775Chromosome 4, monosomy 4p14 p16CN036837ORPHA037814377606470
HP:0001394HP:0001394Cirrhosis1NOP10 CL E G H555051775Chromosome 4, monosomy 4p14 p16CN036837ORPHA014614378606471
HP:0001394HP:0001394Cirrhosis1NOTCH1 CL E G H4851974Brachydactyly small stature face anomaliesORPHA012411887881190198
HP:0001394HP:0001394Cirrhosis1PARN CL E G H50731775Chromosome 4, monosomy 4p14 p16CN036837ORPHA029838609604212
HP:0001394HP:0001394Cirrhosis1PIGA CL E G H5277300868Multiple congenital anomalies-hypotonia-seizures syndrome 2300868C3275508OMIM0292708957311770
HP:0001394HP:0001394Cirrhosis1POLG CL E G H5428298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA030010159179174763
HP:0001394HP:0001394Cirrhosis1PPARG CL E G H546879083ORPHA054719236601487
HP:0001394HP:0001394Cirrhosis1PPARG CL E G H5468528Acute myeloblastic leukemia type 3ORPHA054719236601487
HP:0001394HP:0001394Cirrhosis1RBPJ CL E G H3516974Brachydactyly small stature face anomaliesORPHA010505724147183
HP:0001394HP:0001394Cirrhosis1RPGRIP1L CL E G H233221454Common atrioventricular canalC0221215ORPHA05125529168610937
HP:0001394HP:0001394Cirrhosis1RRM2B CL E G H50484298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA04318117296604712
HP:0001394HP:0001394Cirrhosis1RTEL1 CL E G H517501775Chromosome 4, monosomy 4p14 p16CN036837ORPHA05436315888608833
HP:0001394HP:0001394Cirrhosis1SCARB2 CL E G H95077259ORPHA0271881665602257
HP:0001394HP:0001394Cirrhosis1SERPINA1 CL E G H5265613490Alpha-1-antitrypsin deficiency613490C0221757OMIM01082328941107400
HP:0001394HP:0001394Cirrhosis1SLC40A1 CL E G H30061139491ORPHA0679010909604653
HP:0001394HP:0001394Cirrhosis1SMAD4 CL E G H4089774ORPHA01479366770600993
HP:0001394HP:0001394Cirrhosis1TERC CL E G H70121775Chromosome 4, monosomy 4p14 p16CN036837ORPHA07412311727602322
HP:0001394HP:0001394Cirrhosis1TERT CL E G H70151775Chromosome 4, monosomy 4p14 p16CN036837ORPHA017375311730187270
HP:0001394HP:0001394Cirrhosis1TINF2 CL E G H262771775Chromosome 4, monosomy 4p14 p16CN036837ORPHA04211211824604319
HP:0001394HP:0001394Cirrhosis1TMEM67 CL E G H911471454Common atrioventricular canalC0221215ORPHA017426128396609884
HP:0001394HP:0001394Cirrhosis1TYMP CL E G H1890298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA0952943148131222
HP:0001394HP:0001394Cirrhosis1USB1 CL E G H796501775Chromosome 4, monosomy 4p14 p16CN036837ORPHA0225225792613276
HP:0001394HP:0001394Cirrhosis1WRAP53 CL E G H551351775Chromosome 4, monosomy 4p14 p16CN036837ORPHA078625522612661


Genes (117) :ABCB11 ABCB4 ABHD5 ACVRL1 AGPAT2 AKR1D1 ALDOB ALMS1 AMACR AP1S1 APC APOE ARHGAP31 ASS1 ATP6AP1 ATP7B ATP8B1 AXIN1 BCS1L BSCL2 CASP8 CAV1 CAVIN1 CC2D2A CCDC115 COG4 COG6 CTC1 CTNNB1 CYP7B1 DCDC2 DGUOK DKC1 DLL4 DOCK6 ENG EOGT F5 FAH FARSB FECH FOS GALT GBA GBE1 GDF2 GLRX5 GPR35 HAMP HBB HFE HJV HSD3B7 IFT43 IGF2R IL12A IL12RB1 IL21R INPP5E IRF5 JAG1 JAK2 KRT18 LBR LIPA MARS MET MMEL1 MPI MPV17 MST1 NHP2 NOP10 NOTCH1 NPHP3 NR1H4 PARN PDGFRL PEX1 PHKG2 PIGA PIK3CA POLG POU2AF1 PPARG RBPJ RPGRIP1L RRM2B RTEL1 SCARB2 SERPINA1 SFTPA2 SFTPC SKIV2L SLC25A13 SLC30A10 SLC40A1 SMAD4 SPIB TALDO1 TCF4 TERC TERT TFAM TFR2 TINF2 TMEM67 TNFSF15 TNPO3 TP53 TREX1 TRMT5 TTC37 TYMP UROD USB1 WRAP53

Diseases (90) :601847 602347 774 600376 528 608594 79303 229600 64 79095 609313 269600 974 215700 300972 905 277900 211600 53693 363400 269700 216360 1454 616828 263501 613489 1775 613812 617394 305000 187300 131 276700 613658 79278 230400 77259 232500 616860 171 613313 231214 465508 235200 602390 79301 607765 614099 186 615207 118450 118900 779 75234 278000 615486 602579 256810 613987 208540 617049 601539 613027 300868 298 79083 604367 613490 178500 614602 605814 613280 139491 101028 606003 127550 617156 604250 616539 222470 176100 98907 114550 614576 251880 215600 203700 309854 247691 192315
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is June 2019 release.