Human Phenotype Ontology 
Grandparent Node:
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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 entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001394HP:0001394Cirrhosis0ABCB11 CL E G H864742OMIM:601847Cholestasis, progressive familial intrahepatic 2.146
HP:0001394HP:0001394Cirrhosis0ABCB4 CL E G H524445OMIM:602347Cholestasis, progressive familial intrahepatic, 3.111
HP:0001394HP:0001394Cirrhosis0ABHD5 CL E G H5109921396ORPHA:98907Neutral lipid storage disease with ichthyosis90
HP:0001394HP:0001394Cirrhosis0ACVRL1 CL E G H94175ORPHA:774Hereditary hemorrhagic telangiectasiaHP:0040283 - Occasional178
HP:0001394HP:0001394Cirrhosis0ACVRL1 CL E G H94175OMIM:600376Telangiectasia, hereditary hemorrhagic, type 2.178
HP:0001394HP:0001394Cirrhosis0AGPAT2 CL E G H10555325ORPHA:528Congenital generalized lipodystrophyHP:0040283 - Occasional85
HP:0001394HP:0001394Cirrhosis0AGPAT2 CL E G H10555325OMIM:608594Lipodystrophy, congenital generalized, type 1.85
HP:0001394HP:0001394Cirrhosis0ALDOB CL E G H229417OMIM:229600Fructose intolerance, hereditary.73
HP:0001394HP:0001394Cirrhosis0ALMS1 CL E G H7840428ORPHA:64Alström syndromeHP:0040283 - Occasional404
HP:0001394HP:0001394Cirrhosis0AP1B1 CL E G H162554OMIM:242150Ichthyosiform erythroderma, corneal involvement, and deafness.
HP:0001394HP:0001394Cirrhosis0AP1S1 CL E G H1174559OMIM:609313Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma.1
HP:0001394HP:0001394Cirrhosis0APC CL E G H324583OMIM:114550Hepatocellular carcinoma3179
HP:0001394HP:0001394Cirrhosis0APOE CL E G H348613OMIM:269600Sea-Blue histiocyte disease.39
HP:0001394HP:0001394Cirrhosis0ARG1 CL E G H383663OMIM:207800Argininemia31
HP:0001394HP:0001394Cirrhosis0ARHGAP31 CL E G H5751429216ORPHA:974Adams-Oliver syndromeHP:0040283 - Occasional147
HP:0001394HP:0001394Cirrhosis0ASS1 CL E G H445758OMIM:215700Citrullinemia, classic.119
HP:0001394HP:0001394Cirrhosis0ATP6AP1 CL E G H537868OMIM:300972IMMUNODEFICIENCY 47; IMD475
HP:0001394HP:0001394Cirrhosis0ATP6AP2 CL E G H1015918305OMIM:301045CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIr; CDG2R36
HP:0001394HP:0001394Cirrhosis0ATP7B CL E G H540870OMIM:277900Wilson disease.315
HP:0001394HP:0001394Cirrhosis0ATP7B CL E G H540870ORPHA:905Wilson diseaseHP:0040281 - Very frequent315
HP:0001394HP:0001394Cirrhosis0ATP8B1 CL E G H52053706OMIM:211600Cholestasis, progressive familial intrahepatic 1.144
HP:0001394HP:0001394Cirrhosis0AXIN1 CL E G H8312903OMIM:114550Hepatocellular carcinoma3
HP:0001394HP:0001394Cirrhosis0BCS1L CL E G H6171020ORPHA:53693GRACILE syndromeHP:0040281 - Very frequent72
HP:0001394HP:0001394Cirrhosis0BMP2 CL E G H6501069OMIM:235200Hemochromatosis, type 1.13
HP:0001394HP:0001394Cirrhosis0BMP6 CL E G H6541073ORPHA:465508Symptomatic form of hemochromatosis type 1HP:0040283 - Occasional
HP:0001394HP:0001394Cirrhosis0BSCL2 CL E G H2658015832ORPHA:528Congenital generalized lipodystrophyHP:0040283 - Occasional105
HP:0001394HP:0001394Cirrhosis0BSCL2 CL E G H2658015832OMIM:269700Lipodystrophy, congenital generalized, type 2.105
HP:0001394HP:0001394Cirrhosis0BSCL2 CL E G H2658015832ORPHA:363400Severe neurodegenerative syndrome with lipodystrophyHP:0040283 - Occasional105
HP:0001394HP:0001394Cirrhosis0CALR CL E G H8111455ORPHA:131Budd-Chiari syndromeHP:0040282 - Frequent1
HP:0001394HP:0001394Cirrhosis0CASP8 CL E G H8411509OMIM:114550Hepatocellular carcinoma37
HP:0001394HP:0001394Cirrhosis0CAV1 CL E G H8571527ORPHA:528Congenital generalized lipodystrophyHP:0040283 - Occasional11
HP:0001394HP:0001394Cirrhosis0CAVIN1 CL E G H2841199688ORPHA:528Congenital generalized lipodystrophyHP:0040283 - Occasional48
HP:0001394HP:0001394Cirrhosis0CC2D2A CL E G H5754529253ORPHA:1454Joubert syndrome with hepatic defectHP:0040283 - Occasional247
HP:0001394HP:0001394Cirrhosis0CCDC115 CL E G H8431728178OMIM:616828Congenital disorder of glycosylation, type IIO.3
HP:0001394HP:0001394Cirrhosis0CD40LG CL E G H95911935OMIM:308230Immunodeficiency, X-linked, with hyper-IgM33
HP:0001394HP:0001394Cirrhosis0CEACAM3 CL E G H10841815ORPHA:586Cystic fibrosis
HP:0001394HP:0001394Cirrhosis0CEACAM6 CL E G H46801818ORPHA:586Cystic fibrosis1
HP:0001394HP:0001394Cirrhosis0CFTR CL E G H10801884ORPHA:586Cystic fibrosis1371
HP:0001394HP:0001394Cirrhosis0CFTR CL E G H10801884OMIM:219700Cystic fibrosis1371
HP:0001394HP:0001394Cirrhosis0CLCA4 CL E G H228022018ORPHA:586Cystic fibrosis
HP:0001394HP:0001394Cirrhosis0COG4 CL E G H2583918620ORPHA:263501COG4-CDGHP:0040282 - Frequent67
HP:0001394HP:0001394Cirrhosis0COG4 CL E G H2583918620OMIM:613489Congenital disorder of glycosylation, type IIjHP:0040283 - Occasional67
HP:0001394HP:0001394Cirrhosis0COG6 CL E G H5751118621OMIM:614576CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L71
HP:0001394HP:0001394Cirrhosis0CTC1 CL E G H8016926169ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional160
HP:0001394HP:0001394Cirrhosis0CTNNB1 CL E G H14992514OMIM:114550Hepatocellular carcinoma88
HP:0001394HP:0001394Cirrhosis0CYP7B1 CL E G H94202652OMIM:613812Bile acid synthesis defect, congenital, 3.57
HP:0001394HP:0001394Cirrhosis0CYP7B1 CL E G H94202652ORPHA:79302Congenital bile acid synthesis defect type 357
HP:0001394HP:0001394Cirrhosis0DCDC2 CL E G H5147318141OMIM:617394Sclerosing cholangitis, neonatal.8
HP:0001394HP:0001394Cirrhosis0DCDC2 CL E G H5147318141ORPHA:84081Senior-Boichis syndrome8
HP:0001394HP:0001394Cirrhosis0DCTN4 CL E G H5116415518ORPHA:586Cystic fibrosis
HP:0001394HP:0001394Cirrhosis0DGUOK CL E G H17162858OMIM:251880Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)57
HP:0001394HP:0001394Cirrhosis0DHCR7 CL E G H17172860OMIM:270400Smith-Lemli-Opitz syndrome159
HP:0001394HP:0001394Cirrhosis0DKC1 CL E G H17362890ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional65
HP:0001394HP:0001394Cirrhosis0DKC1 CL E G H17362890OMIM:305000Dyskeratosis congenita, X-linked.65
HP:0001394HP:0001394Cirrhosis0DLL4 CL E G H545672910ORPHA:974Adams-Oliver syndromeHP:0040283 - Occasional9
HP:0001394HP:0001394Cirrhosis0DOCK6 CL E G H5757219189ORPHA:974Adams-Oliver syndromeHP:0040283 - Occasional18
HP:0001394HP:0001394Cirrhosis0EDNRA CL E G H19093179ORPHA:586Cystic fibrosis3
HP:0001394HP:0001394Cirrhosis0ENG CL E G H20223349ORPHA:774Hereditary hemorrhagic telangiectasiaHP:0040283 - Occasional186
HP:0001394HP:0001394Cirrhosis0ENG CL E G H20223349OMIM:187300Telangiectasia, hereditary hemorrhagic, type 1.186
HP:0001394HP:0001394Cirrhosis0EOGT CL E G H28520328526ORPHA:974Adams-Oliver syndromeHP:0040283 - Occasional4
HP:0001394HP:0001394Cirrhosis0F5 CL E G H21533542OMIM:600880Budd-Chiari syndrome.159
HP:0001394HP:0001394Cirrhosis0F5 CL E G H21533542ORPHA:131Budd-Chiari syndromeHP:0040282 - Frequent159
HP:0001394HP:0001394Cirrhosis0FAH CL E G H21843579OMIM:276700Tyrosinemia, type I.107
HP:0001394HP:0001394Cirrhosis0FARSB CL E G H1005617800OMIM:613658Rajab interstitial lung disease with brain calcifications
HP:0001394HP:0001394Cirrhosis0FCGR2A CL E G H22123616OMIM:219700Cystic fibrosis6
HP:0001394HP:0001394Cirrhosis0FECH CL E G H22353647ORPHA:79278Autosomal erythropoietic protoporphyriaHP:0040283 - Occasional145
HP:0001394HP:0001394Cirrhosis0FOS CL E G H23533796ORPHA:528Congenital generalized lipodystrophyHP:0040283 - Occasional
HP:0001394HP:0001394Cirrhosis0GALT CL E G H25924135OMIM:230400GALACTOSEMIA.351
HP:0001394HP:0001394Cirrhosis0GBA1 CL E G H26294177ORPHA:77259Gaucher disease type 1HP:0040283 - Occasional
HP:0001394HP:0001394Cirrhosis0GBE1 CL E G H26324180OMIM:232500Glycogen storage disease IV.86
HP:0001394HP:0001394Cirrhosis0GCLC CL E G H27294311ORPHA:586Cystic fibrosis2
HP:0001394HP:0001394Cirrhosis0GDF2 CL E G H26584217ORPHA:774Hereditary hemorrhagic telangiectasiaHP:0040283 - Occasional8
HP:0001394HP:0001394Cirrhosis0GLRX5 CL E G H5121820134OMIM:616860Anemia, sideroblastic, 3, pyridoxine-refractoryHP:0040283 - Occasional17
HP:0001394HP:0001394Cirrhosis0GPR35 CL E G H28594492ORPHA:171Primary sclerosing cholangitisHP:0040282 - Frequent2
HP:0001394HP:0001394Cirrhosis0GSTM3 CL E G H29474635ORPHA:586Cystic fibrosis1
HP:0001394HP:0001394Cirrhosis0HAMP CL E G H5781715598OMIM:613313Hemochromatosis, type 2B15
HP:0001394HP:0001394Cirrhosis0HBB CL E G H30434827ORPHA:231222Beta-thalassemia intermediaHP:0040284 - Very rare580
HP:0001394HP:0001394Cirrhosis0HBB CL E G H30434827ORPHA:231214Beta-thalassemia majorHP:0040283 - Occasional580
HP:0001394HP:0001394Cirrhosis0HBB CL E G H30434827ORPHA:231226Dominant beta-thalassemiaHP:0040283 - Occasional580
HP:0001394HP:0001394Cirrhosis0HFE CL E G H30774886ORPHA:586Cystic fibrosis38
HP:0001394HP:0001394Cirrhosis0HFE CL E G H30774886OMIM:235200Hemochromatosis, type 1.38
HP:0001394HP:0001394Cirrhosis0HFE CL E G H30774886OMIM:176100Porphyria cutanea tarda.38
HP:0001394HP:0001394Cirrhosis0HFE CL E G H30774886ORPHA:465508Symptomatic form of hemochromatosis type 1HP:0040283 - Occasional38
HP:0001394HP:0001394Cirrhosis0HJV CL E G H1487384887OMIM:602390Hemochromatosis, type 2A
HP:0001394HP:0001394Cirrhosis0HMOX1 CL E G H31625013ORPHA:586Cystic fibrosis3
HP:0001394HP:0001394Cirrhosis0HSD3B7 CL E G H8027018324OMIM:607765Bile acid synthesis defect, congenital, 1.26
HP:0001394HP:0001394Cirrhosis0HSD3B7 CL E G H8027018324ORPHA:79301Congenital bile acid synthesis defect type 1HP:0040283 - Occasional26
HP:0001394HP:0001394Cirrhosis0IFT43 CL E G H11275229669OMIM:614099Cranioectodermal dysplasia 3HP:0040283 - Occasional11
HP:0001394HP:0001394Cirrhosis0IGF2R CL E G H34825467OMIM:114550Hepatocellular carcinoma4
HP:0001394HP:0001394Cirrhosis0IL12A CL E G H35925969ORPHA:186Primary biliary cholangitisHP:0040281 - Very frequent
HP:0001394HP:0001394Cirrhosis0IL12RB1 CL E G H35945971ORPHA:186Primary biliary cholangitisHP:0040281 - Very frequent46
HP:0001394HP:0001394Cirrhosis0IL21R CL E G H506156006OMIM:615207IMMUNODEFICIENCY 56; IMD567
HP:0001394HP:0001394Cirrhosis0INPP5E CL E G H5662321474ORPHA:1454Joubert syndrome with hepatic defectHP:0040283 - Occasional111
HP:0001394HP:0001394Cirrhosis0IRF5 CL E G H36636120ORPHA:186Primary biliary cholangitisHP:0040281 - Very frequent4
HP:0001394HP:0001394Cirrhosis0ITCH CL E G H8373713890ORPHA:228426Syndromic multisystem autoimmune disease due to Itch deficiencyHP:0040283 - Occasional3
HP:0001394HP:0001394Cirrhosis0JAG1 CL E G H1826188OMIM:118450Alagille syndrome 1.257
HP:0001394HP:0001394Cirrhosis0JAK2 CL E G H37176192OMIM:600880Budd-Chiari syndrome.57
HP:0001394HP:0001394Cirrhosis0JAK2 CL E G H37176192ORPHA:131Budd-Chiari syndromeHP:0040282 - Frequent57
HP:0001394HP:0001394Cirrhosis0KCNN4 CL E G H37836293ORPHA:586Cystic fibrosis3
HP:0001394HP:0001394Cirrhosis0KIF12 CL E G H11322021495OMIM:619662CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 8; PFIC81
HP:0001394HP:0001394Cirrhosis0KIF3B CL E G H93716320OMIM:618955RETINITIS PIGMENTOSA 89; RP89
HP:0001394HP:0001394Cirrhosis0KRT18 CL E G H38756430OMIM:215600Cirrhosis, familial19
HP:0001394HP:0001394Cirrhosis0LBR CL E G H39306518ORPHA:779Reynolds syndromeHP:0040283 - Occasional70
HP:0001394HP:0001394Cirrhosis0LIG3 CL E G H39806600ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathyHP:0040283 - Occasional1
HP:0001394HP:0001394Cirrhosis0LIPA CL E G H39886617ORPHA:75234Cholesteryl ester storage diseaseHP:0040283 - Occasional73
HP:0001394HP:0001394Cirrhosis0LIPA CL E G H39886617OMIM:278000Lysosomal acid lipase deficiency73
HP:0001394HP:0001394Cirrhosis0MARS1 CL E G H41416898OMIM:615486Interstitial lung and liver diseaseHP:0040283 - Occasional
HP:0001394HP:0001394Cirrhosis0MED12 CL E G H996811957OMIM:301068HARDIKAR SYNDROME; HDKR228
HP:0001394HP:0001394Cirrhosis0MET CL E G H42337029OMIM:114550Hepatocellular carcinoma375
HP:0001394HP:0001394Cirrhosis0MIF CL E G H42827097ORPHA:586Cystic fibrosis1
HP:0001394HP:0001394Cirrhosis0MMEL1 CL E G H7925814668ORPHA:186Primary biliary cholangitisHP:0040281 - Very frequent
HP:0001394HP:0001394Cirrhosis0MPI CL E G H43517216OMIM:602579Congenital disorder of glycosylation, type Ib.51
HP:0001394HP:0001394Cirrhosis0MPV17 CL E G H43587224OMIM:256810Navajo neurohepatopathy.56
HP:0001394HP:0001394Cirrhosis0MST1 CL E G H44857380ORPHA:171Primary sclerosing cholangitisHP:0040282 - Frequent1
HP:0001394HP:0001394Cirrhosis0MTTP CL E G H45477467ORPHA:14AbetalipoproteinemiaHP:0040284 - Very rare81
HP:0001394HP:0001394Cirrhosis0MUC5B CL E G H7278977516OMIM:178500Pulmonary fibrosis, idiopathic.133
HP:0001394HP:0001394Cirrhosis0NGLY1 CL E G H5576817646ORPHA:404454Alacrimia-choreoathetosis-liver dysfunction syndrome32
HP:0001394HP:0001394Cirrhosis0NHP2 CL E G H5565114377ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional27
HP:0001394HP:0001394Cirrhosis0NHP2 CL E G H5565114377OMIM:613987Dyskeratosis congenita, autosomal recessive, 2.27
HP:0001394HP:0001394Cirrhosis0NOP10 CL E G H5550514378ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional17
HP:0001394HP:0001394Cirrhosis0NOTCH1 CL E G H48517881ORPHA:974Adams-Oliver syndromeHP:0040283 - Occasional452
HP:0001394HP:0001394Cirrhosis0NPHP3 CL E G H270317907OMIM:208540Renal-Hepatic-Pancreatic dysplasia.157
HP:0001394HP:0001394Cirrhosis0NPM1 CL E G H48697910ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional12
HP:0001394HP:0001394Cirrhosis0NR1H4 CL E G H99717967OMIM:617049CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5; PFIC514
HP:0001394HP:0001394Cirrhosis0PARN CL E G H50738609ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional26
HP:0001394HP:0001394Cirrhosis0PDGFRL CL E G H51578805OMIM:114550Hepatocellular carcinoma2
HP:0001394HP:0001394Cirrhosis0PEX1 CL E G H51898850OMIM:601539Peroxisome biogenesis disorder 1B.169
HP:0001394HP:0001394Cirrhosis0PHKA2 CL E G H52568926ORPHA:264580Glycogen storage disease due to liver phosphorylase kinase deficiencyHP:0040284 - Very rare54
HP:0001394HP:0001394Cirrhosis0PHKB CL E G H52578927ORPHA:79240Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency101
HP:0001394HP:0001394Cirrhosis0PHKG2 CL E G H52618931ORPHA:264580Glycogen storage disease due to liver phosphorylase kinase deficiencyHP:0040284 - Very rare48
HP:0001394HP:0001394Cirrhosis0PHKG2 CL E G H52618931OMIM:613027Glycogen storage disease IXc48
HP:0001394HP:0001394Cirrhosis0PIGA CL E G H52778957OMIM:300868Multiple congenital anomalies-hypotonia-seizures syndrome 2HP:0040283 - Occasional46
HP:0001394HP:0001394Cirrhosis0PIGA CL E G H52778957OMIM:301072NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH46
HP:0001394HP:0001394Cirrhosis0PIK3CA CL E G H52908975OMIM:114550Hepatocellular carcinoma162
HP:0001394HP:0001394Cirrhosis0PKHD1 CL E G H53149016ORPHA:53035Caroli diseaseHP:0040283 - Occasional563
HP:0001394HP:0001394Cirrhosis0POLG CL E G H54289179OMIM:203700Mitochondrial DNA depletion syndrome 4A (Alpers type)464
HP:0001394HP:0001394Cirrhosis0POLG CL E G H54289179ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathyHP:0040283 - Occasional464
HP:0001394HP:0001394Cirrhosis0POU2AF1 CL E G H54509211ORPHA:186Primary biliary cholangitisHP:0040281 - Very frequent
HP:0001394HP:0001394Cirrhosis0PPARG CL E G H54689236ORPHA:528Congenital generalized lipodystrophyHP:0040283 - Occasional42
HP:0001394HP:0001394Cirrhosis0PPARG CL E G H54689236OMIM:604367Lipodystrophy, familial partial, type 3.42
HP:0001394HP:0001394Cirrhosis0PPARG CL E G H54689236ORPHA:79083PPARG-related familial partial lipodystrophyHP:0040284 - Very rare42
HP:0001394HP:0001394Cirrhosis0PRIM1 CL E G H55579369OMIM:620005
HP:0001394HP:0001394Cirrhosis0PYGL CL E G H58369725ORPHA:369Glycogen storage disease due to liver glycogen phosphorylase deficiencyHP:0040284 - Very rare71
HP:0001394HP:0001394Cirrhosis0RBPJ CL E G H35165724ORPHA:974Adams-Oliver syndromeHP:0040283 - Occasional3
HP:0001394HP:0001394Cirrhosis0RPGRIP1L CL E G H2332229168ORPHA:1454Joubert syndrome with hepatic defectHP:0040283 - Occasional167
HP:0001394HP:0001394Cirrhosis0RRM2B CL E G H5048417296ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathyHP:0040283 - Occasional125
HP:0001394HP:0001394Cirrhosis0RTEL1 CL E G H5175015888ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional77
HP:0001394HP:0001394Cirrhosis0SCARB2 CL E G H9501665ORPHA:77259Gaucher disease type 1HP:0040283 - Occasional77
HP:0001394HP:0001394Cirrhosis0SEMA4D CL E G H1050710732ORPHA:171Primary sclerosing cholangitisHP:0040282 - Frequent
HP:0001394HP:0001394Cirrhosis0SERPINA1 CL E G H52658941OMIM:613490Alpha-1-Antitrypsin deficiencyHP:0040283 - Occasional131
HP:0001394HP:0001394Cirrhosis0SERPINA1 CL E G H52658941ORPHA:586Cystic fibrosis131
HP:0001394HP:0001394Cirrhosis0SFTPA2 CL E G H72923810799OMIM:178500Pulmonary fibrosis, idiopathic.10
HP:0001394HP:0001394Cirrhosis0SFTPC CL E G H644010802OMIM:178500Pulmonary fibrosis, idiopathic.33
HP:0001394HP:0001394Cirrhosis0SKIC2 CL E G H649910898ORPHA:84064Syndromic diarrheaHP:0040282 - Frequent
HP:0001394HP:0001394Cirrhosis0SKIC2 CL E G H649910898OMIM:614602Trichohepatoenteric syndrome 2.
HP:0001394HP:0001394Cirrhosis0SKIC3 CL E G H965223639ORPHA:84064Syndromic diarrheaHP:0040282 - Frequent
HP:0001394HP:0001394Cirrhosis0SKIC3 CL E G H965223639OMIM:222470Trichohepatoenteric syndrome 1.
HP:0001394HP:0001394Cirrhosis0SLC11A1 CL E G H655610907ORPHA:586Cystic fibrosis2
HP:0001394HP:0001394Cirrhosis0SLC25A13 CL E G H1016510983OMIM:605814Citrullinemia, type II, neonatal-onset.82
HP:0001394HP:0001394Cirrhosis0SLC26A9 CL E G H11501914469ORPHA:586Cystic fibrosis5
HP:0001394HP:0001394Cirrhosis0SLC30A10 CL E G H5553225355ORPHA:309854Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome42
HP:0001394HP:0001394Cirrhosis0SLC30A10 CL E G H5553225355OMIM:613280Hypermanganesemia with dystonia 142
HP:0001394HP:0001394Cirrhosis0SLC40A1 CL E G H3006110909ORPHA:139491Hemochromatosis type 4HP:0040283 - Occasional56
HP:0001394HP:0001394Cirrhosis0SLC40A1 CL E G H3006110909OMIM:606069Hemochromatosis, type 456
HP:0001394HP:0001394Cirrhosis0SLC6A14 CL E G H1125411047ORPHA:586Cystic fibrosis
HP:0001394HP:0001394Cirrhosis0SLC7A7 CL E G H905611065ORPHA:470Lysinuric protein intoleranceHP:0040282 - Frequent104
HP:0001394HP:0001394Cirrhosis0SLC9A3 CL E G H655011073ORPHA:586Cystic fibrosis7
HP:0001394HP:0001394Cirrhosis0SMAD4 CL E G H40896770ORPHA:774Hereditary hemorrhagic telangiectasiaHP:0040283 - Occasional504
HP:0001394HP:0001394Cirrhosis0SMPD1 CL E G H660911120ORPHA:77293Niemann-Pick disease type BHP:0040284 - Very rare164
HP:0001394HP:0001394Cirrhosis0SPIB CL E G H668911242ORPHA:186Primary biliary cholangitisHP:0040281 - Very frequent
HP:0001394HP:0001394Cirrhosis0STX1A CL E G H680411433ORPHA:586Cystic fibrosis
HP:0001394HP:0001394Cirrhosis0TALDO1 CL E G H688811559OMIM:606003Transaldolase deficiency34
HP:0001394HP:0001394Cirrhosis0TALDO1 CL E G H688811559ORPHA:101028Transaldolase deficiencyHP:0040281 - Very frequent34
HP:0001394HP:0001394Cirrhosis0TCF4 CL E G H692511634ORPHA:171Primary sclerosing cholangitisHP:0040282 - Frequent241
HP:0001394HP:0001394Cirrhosis0TERC CL E G H701211727ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional48
HP:0001394HP:0001394Cirrhosis0TERC CL E G H701211727OMIM:127550Dyskeratosis congenita, autosomal dominant, 1.48
HP:0001394HP:0001394Cirrhosis0TERC CL E G H701211727OMIM:614743Pulmonary fibrosis and/or bone marrow failure, telomere-related, 2HP:0040283 - Occasional48
HP:0001394HP:0001394Cirrhosis0TERT CL E G H701511730ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional238
HP:0001394HP:0001394Cirrhosis0TERT CL E G H701511730OMIM:127550Dyskeratosis congenita, autosomal dominant, 1.238
HP:0001394HP:0001394Cirrhosis0TERT CL E G H701511730OMIM:614742PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1; PFBMFT1238
HP:0001394HP:0001394Cirrhosis0TERT CL E G H701511730OMIM:178500Pulmonary fibrosis, idiopathic.238
HP:0001394HP:0001394Cirrhosis0TFAM CL E G H701911741OMIM:617156Mitochondrial DNA depletion syndrome 15 (hepatocerebral type).1
HP:0001394HP:0001394Cirrhosis0TFR2 CL E G H703611762OMIM:604250Hemochromatosis, type 367
HP:0001394HP:0001394Cirrhosis0TGFB1 CL E G H704011766ORPHA:586Cystic fibrosis13
HP:0001394HP:0001394Cirrhosis0TGFB1 CL E G H704011766OMIM:219700Cystic fibrosis13
HP:0001394HP:0001394Cirrhosis0TINF2 CL E G H2627711824ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional60
HP:0001394HP:0001394Cirrhosis0TINF2 CL E G H2627711824OMIM:127550Dyskeratosis congenita, autosomal dominant, 1.60
HP:0001394HP:0001394Cirrhosis0TJP2 CL E G H941411828OMIM:615878CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 4; PFIC4149
HP:0001394HP:0001394Cirrhosis0TMEM67 CL E G H9114728396OMIM:216360Coach syndrome 1.166
HP:0001394HP:0001394Cirrhosis0TMEM67 CL E G H9114728396ORPHA:1454Joubert syndrome with hepatic defectHP:0040283 - Occasional166
HP:0001394HP:0001394Cirrhosis0TMEM67 CL E G H9114728396ORPHA:84081Senior-Boichis syndrome166
HP:0001394HP:0001394Cirrhosis0TNFSF15 CL E G H996611931ORPHA:186Primary biliary cholangitisHP:0040281 - Very frequent
HP:0001394HP:0001394Cirrhosis0TNPO3 CL E G H2353417103ORPHA:186Primary biliary cholangitisHP:0040281 - Very frequent71
HP:0001394HP:0001394Cirrhosis0TP53 CL E G H715711998OMIM:114550Hepatocellular carcinoma911
HP:0001394HP:0001394Cirrhosis0TREX1 CL E G H1127712269OMIM:192315Vasculopathy, retinal, with cerebral leukodystrophy56
HP:0001394HP:0001394Cirrhosis0TRMT5 CL E G H5757023141OMIM:616539Combined oxidative phosphorylation deficiency 26.4
HP:0001394HP:0001394Cirrhosis0TTC26 CL E G H7998921882OMIM:619534BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0001394HP:0001394Cirrhosis0TULP3 CL E G H728912425OMIM:619902
HP:0001394HP:0001394Cirrhosis0TYMP CL E G H18903148ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathyHP:0040283 - Occasional138
HP:0001394HP:0001394Cirrhosis0TYMS CL E G H729812441ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional1
HP:0001394HP:0001394Cirrhosis0UROD CL E G H738912591OMIM:176100Porphyria cutanea tarda.31
HP:0001394HP:0001394Cirrhosis0USB1 CL E G H7965025792ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional8
HP:0001394HP:0001394Cirrhosis0WRAP53 CL E G H5513525522ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional40
HP:0001394HP:0001394Cirrhosis0YARS1 CL E G H856512840OMIM:619418NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2
HP:0001394HP:0001394Cirrhosis0ZFYVE19 CL E G H8493620758OMIM:619849
HP:0001394HP:0011005Mixed cirrhosis1 CL E G H
HP:0001394HP:0001413Micronodular cirrhosis1ABHD5 CL E G H5109921396ORPHA:98907Neutral lipid storage disease with ichthyosisHP:0040283 - Occasional90
HP:0001394HP:0001413Micronodular cirrhosis1APC CL E G H324583OMIM:114550Hepatocellular carcinoma.3179
HP:0001394HP:0001413Micronodular cirrhosis1ARG1 CL E G H383663OMIM:207800Argininemia31
HP:0001394HP:0001413Micronodular cirrhosis1ATP6AP2 CL E G H1015918305OMIM:301045CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIr; CDG2R36
HP:0001394HP:0001413Micronodular cirrhosis1AXIN1 CL E G H8312903OMIM:114550Hepatocellular carcinoma.3
HP:0001394HP:0001413Micronodular cirrhosis1CASP8 CL E G H8411509OMIM:114550Hepatocellular carcinoma.37
HP:0001394HP:0001413Micronodular cirrhosis1CTNNB1 CL E G H14992514OMIM:114550Hepatocellular carcinoma.88
HP:0001394HP:0001413Micronodular cirrhosis1DGUOK CL E G H17162858OMIM:251880Mitochondrial DNA depletion syndrome 3 (hepatocerebral type).57
HP:0001394HP:0001413Micronodular cirrhosis1IGF2R CL E G H34825467OMIM:114550Hepatocellular carcinoma.4
HP:0001394HP:0001413Micronodular cirrhosis1KIF3B CL E G H93716320OMIM:618955RETINITIS PIGMENTOSA 89; RP89
HP:0001394HP:0001413Micronodular cirrhosis1KRT18 CL E G H38756430OMIM:215600Cirrhosis, familial.19
HP:0001394HP:0001413Micronodular cirrhosis1MET CL E G H42337029OMIM:114550Hepatocellular carcinoma.375
HP:0001394HP:0001413Micronodular cirrhosis1MPV17 CL E G H43587224OMIM:256810Navajo neurohepatopathy56
HP:0001394HP:0001413Micronodular cirrhosis1NGLY1 CL E G H5576817646ORPHA:404454Alacrimia-choreoathetosis-liver dysfunction syndromeHP:0040283 - Occasional32
HP:0001394HP:0001413Micronodular cirrhosis1PDGFRL CL E G H51578805OMIM:114550Hepatocellular carcinoma.2
HP:0001394HP:0001413Micronodular cirrhosis1PIGA CL E G H52778957OMIM:301072NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH46
HP:0001394HP:0001413Micronodular cirrhosis1PIK3CA CL E G H52908975OMIM:114550Hepatocellular carcinoma.162
HP:0001394HP:0001413Micronodular cirrhosis1POLG CL E G H54289179OMIM:203700Mitochondrial DNA depletion syndrome 4A (Alpers type).464
HP:0001394HP:0006577Macronodular cirrhosis1PRIM1 CL E G H55579369OMIM:620005
HP:0001394HP:0001413Micronodular cirrhosis1SLC30A10 CL E G H5553225355ORPHA:309854Cirrhosis-dystonia-polycythemia-hypermanganesemia syndromeHP:0040282 - Frequent42
HP:0001394HP:0001413Micronodular cirrhosis1TALDO1 CL E G H688811559OMIM:606003Transaldolase deficiency.34
HP:0001394HP:0001413Micronodular cirrhosis1TP53 CL E G H715711998OMIM:114550Hepatocellular carcinoma.911
HP:0001394HP:0001413Micronodular cirrhosis1TREX1 CL E G H1127712269OMIM:192315Vasculopathy, retinal, with cerebral leukodystrophyHP:0040283 - Occasional56
HP:0001394HP:0006577Macronodular cirrhosis1YARS1 CL E G H856512840OMIM:619418NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2
HP:0001394HP:0001413Micronodular cirrhosis1ZFYVE19 CL E G H8493620758OMIM:619849


Genes (164) :ABCB11 ABCB4 ABHD5 ACVRL1 AGPAT2 ALDOB ALMS1 AP1B1 AP1S1 APC APOE ARG1 ARHGAP31 ASS1 ATP6AP1 ATP6AP2 ATP7B ATP8B1 AXIN1 BCS1L BMP2 BMP6 BSCL2 CALR CASP8 CAV1 CAVIN1 CC2D2A CCDC115 CD40LG CEACAM3 CEACAM6 CFTR CLCA4 COG4 COG6 CTC1 CTNNB1 CYP7B1 DCDC2 DCTN4 DGUOK DHCR7 DKC1 DLL4 DOCK6 EDNRA ENG EOGT F5 FAH FARSB FCGR2A FECH FOS GALT GBA1 GBE1 GCLC GDF2 GLRX5 GPR35 GSTM3 HAMP HBB HFE HJV HMOX1 HSD3B7 IFT43 IGF2R IL12A IL12RB1 IL21R INPP5E IRF5 ITCH JAG1 JAK2 KCNN4 KIF12 KIF3B KRT18 LBR LIG3 LIPA MARS1 MED12 MET MIF MMEL1 MPI MPV17 MST1 MTTP MUC5B NGLY1 NHP2 NOP10 NOTCH1 NPHP3 NPM1 NR1H4 PARN PDGFRL PEX1 PHKA2 PHKB PHKG2 PIGA PIK3CA PKHD1 POLG POU2AF1 PPARG PRIM1 PYGL RBPJ RPGRIP1L RRM2B RTEL1 SCARB2 SEMA4D SERPINA1 SFTPA2 SFTPC SKIC2 SKIC3 SLC11A1 SLC25A13 SLC26A9 SLC30A10 SLC40A1 SLC6A14 SLC7A7 SLC9A3 SMAD4 SMPD1 SPIB STX1A TALDO1 TCF4 TERC TERT TFAM TFR2 TGFB1 TINF2 TJP2 TMEM67 TNFSF15 TNPO3 TP53 TREX1 TRMT5 TTC26 TULP3 TYMP TYMS UROD USB1 WRAP53 YARS1 ZFYVE19

Diseases (121) :OMIM:601847 OMIM:602347 ORPHA:98907 ORPHA:774 OMIM:600376 ORPHA:528 OMIM:608594 OMIM:229600 ORPHA:64 OMIM:242150 OMIM:609313 OMIM:114550 OMIM:269600 OMIM:207800 ORPHA:974 OMIM:215700 OMIM:300972 OMIM:301045 OMIM:277900 ORPHA:905 OMIM:211600 ORPHA:53693 OMIM:235200 ORPHA:465508 OMIM:269700 ORPHA:363400 ORPHA:131 ORPHA:1454 OMIM:616828 OMIM:308230 ORPHA:586 OMIM:219700 ORPHA:263501 OMIM:613489 OMIM:614576 ORPHA:1775 OMIM:613812 ORPHA:79302 OMIM:617394 ORPHA:84081 OMIM:251880 OMIM:270400 OMIM:305000 OMIM:187300 OMIM:600880 OMIM:276700 OMIM:613658 ORPHA:79278 OMIM:230400 ORPHA:77259 OMIM:232500 OMIM:616860 ORPHA:171 OMIM:613313 ORPHA:231222 ORPHA:231214 ORPHA:231226 OMIM:176100 OMIM:602390 OMIM:607765 ORPHA:79301 OMIM:614099 ORPHA:186 OMIM:615207 ORPHA:228426 OMIM:118450 OMIM:619662 OMIM:618955 OMIM:215600 ORPHA:779 ORPHA:298 ORPHA:75234 OMIM:278000 OMIM:615486 OMIM:301068 OMIM:602579 OMIM:256810 ORPHA:14 OMIM:178500 ORPHA:404454 OMIM:613987 OMIM:208540 OMIM:617049 OMIM:601539 ORPHA:264580 ORPHA:79240 OMIM:613027 OMIM:300868 OMIM:301072 ORPHA:53035 OMIM:203700 OMIM:604367 ORPHA:79083 OMIM:620005 ORPHA:369 OMIM:613490 ORPHA:84064 OMIM:614602 OMIM:222470 OMIM:605814 ORPHA:309854 OMIM:613280 ORPHA:139491 OMIM:606069 ORPHA:470 ORPHA:77293 OMIM:606003 ORPHA:101028 OMIM:127550 OMIM:614743 OMIM:614742 OMIM:617156 OMIM:604250 OMIM:615878 OMIM:216360 OMIM:192315 OMIM:616539 OMIM:619534 OMIM:619902 OMIM:619418 OMIM:619849
 

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