Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the liver (HP:0001392)help
Parent Node:
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Abnormal liver morphology (HP:0410042)help
..Starting node
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Hepatic fibrosis (HP:0001395)help
Term ID: 1395
Name: Hepatic fibrosis
Synonym: Liver fibrosis
Definition: The presence of excessive fibrous connective tissue in the liver. Fibrosis is a reparative or reactive process.
Comments:
Reference: HP:0001395
Genes and Diseases:
 
       Child Nodes:
........expandPeriportal fibrosis (HP:0001405) help
........expandCongenital hepatic fibrosis (HP:0002612) help
........expandHepatic bridging fibrosis (HP:0012852) 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
..expandCirrhosis (HP:0001394) 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 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:0001395HP:0001395Hepatic fibrosis0ABCB4 CL E G H5244600803Cholecystitis600803C0008325OMIM153945171060
HP:0001395HP:0001395Hepatic fibrosis0ABCD3 CL E G H5825616278Bile acid synthesis defect, congenital, 5616278C4225390OMIM19167170995
HP:0001395HP:0001395Hepatic fibrosis0AGL CL E G H178232400Glycogen storage disease type III232400C0017922OMIM12263321610860
HP:0001395HP:0001395Hepatic fibrosis0ANKS6 CL E G H203286615382Nephronophthisis 16615382C3809320OMIM136126724615370
HP:0001395HP:0001395Hepatic fibrosis0AP1S1 CL E G H1174609313Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma609313C1836330OMIM174559603531
HP:0001395HP:0001395Hepatic fibrosis0ASL CL E G H435207900Argininosuccinate lyase deficiency207900C0268547OMIM1674746608310
HP:0001395HP:0001395Hepatic fibrosis0BBS1 CL E G H582209900Bardet-Biedl syndrome 1209900C2936862OMIM1874966209901
HP:0001395HP:0001395Hepatic fibrosis0CC2D2A CL E G H57545216360COACH syndrome216360C1857662OMIM1152529253612013
HP:0001395HP:0001395Hepatic fibrosis0CC2D2A CL E G H57545612284Meckel syndrome type 6612284C2676790OMIM1152529253612013
HP:0001395HP:0001395Hepatic fibrosis0CTNNB1 CL E G H149933402ORPHA16242514116806
HP:0001395HP:0001395Hepatic fibrosis0DCDC2 CL E G H51473616217Nephronophthisis 19616217C4015542OMIM126118141605755
HP:0001395HP:0001395Hepatic fibrosis0FADD CL E G H8772306550ORPHA11103573602457
HP:0001395HP:0001395Hepatic fibrosis0GLIS3 CL E G H169792610199Diabetes mellitus, neonatal, with congenital hypothyroidism610199C1857775OMIM168628510610192
HP:0001395HP:0001395Hepatic fibrosis0GPD1 CL E G H2819614480Hypertriglyceridemia, transient infantile614480C3280953OMIM1964455138420
HP:0001395HP:0001395Hepatic fibrosis0GPR35 CL E G H2859171Le Marec Bracq Picaud syndromeORPHA11394492602646
HP:0001395HP:0001395Hepatic fibrosis0IFT122 CL E G H55764218330Cranioectodermal dysplasia 1218330C0432235OMIM164813556606045
HP:0001395HP:0001395Hepatic fibrosis0IFT140 CL E G H9742266920Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia266920C1849437OMIM1168629077614620
HP:0001395HP:0001395Hepatic fibrosis0IFT172 CL E G H26160615630Short-rib thoracic dysplasia 10 with or without polydactyly615630C3810175OMIM1135630391607386
HP:0001395HP:0001395Hepatic fibrosis0IL12A CL E G H3592186ORPHA1345969161560
HP:0001395HP:0001395Hepatic fibrosis0IL12RB1 CL E G H3594186ORPHA14655971601604
HP:0001395HP:0001395Hepatic fibrosis0INPP5E CL E G H56623213300Joubert syndrome 1213300CN119531OMIM178221474613037
HP:0001395HP:0001395Hepatic fibrosis0INSR CL E G H3643508Acroosteolysis dominant typeORPHA16226091147670
HP:0001395HP:0001395Hepatic fibrosis0INSR CL E G H3643246200Leprechaunism syndrome246200C0265344OMIM16226091147670
HP:0001395HP:0001395Hepatic fibrosis0IRF5 CL E G H3663186ORPHA1656120607218
HP:0001395HP:0001395Hepatic fibrosis0LIPA CL E G H3988278000Lysosomal acid lipase deficiency278000C0043208OMIM15616617613497
HP:0001395HP:0001395Hepatic fibrosis0MET CL E G H423333402ORPHA131847029164860
HP:0001395HP:0001395Hepatic fibrosis0MMEL1 CL E G H79258186ORPHA118114668618104
HP:0001395HP:0001395Hepatic fibrosis0MPI CL E G H4351602579Congenital disorder of glycosylation type 1B602579C1865145OMIM13987216154550
HP:0001395HP:0001395Hepatic fibrosis0MST1 CL E G H4485171Le Marec Bracq Picaud syndromeORPHA1577380142408
HP:0001395HP:0001395Hepatic fibrosis0NEK8 CL E G H284086615415Renal-hepatic-pancreatic dysplasia 2615415C3809434OMIM127913387609799
HP:0001395HP:0001395Hepatic fibrosis0NHP2 CL E G H55651224230Dyskeratosis congenita autosomal recessive 1224230C1857144OMIM119614377606470
HP:0001395HP:0001395Hepatic fibrosis0NOP10 CL E G H55505224230Dyskeratosis congenita autosomal recessive 1224230C1857144OMIM110214378606471
HP:0001395HP:0001395Hepatic fibrosis0NPHP3 CL E G H27031604387Adolescent nephronophthisis604387C1858392OMIM111067907608002
HP:0001395HP:0001395Hepatic fibrosis0NPHP3 CL E G H27031208540Renal-hepatic-pancreatic dysplasia208540C2673883OMIM111067907608002
HP:0001395HP:0001395Hepatic fibrosis0OFD1 CL E G H8481311200Oral-facial-digital syndrome311200C1510460OMIM110202567300170
HP:0001395HP:0001395Hepatic fibrosis0PEX1 CL E G H5189601539Peroxisome biogenesis disorder 1B601539CN168921OMIM115378850602136
HP:0001395HP:0001395Hepatic fibrosis0PLIN1 CL E G H5346280356ORPHA11389076170290
HP:0001395HP:0001395Hepatic fibrosis0PMM2 CL E G H5373212065Carbohydrate-deficient glycoprotein syndrome type I212065C0349653OMIM17459115601785
HP:0001395HP:0001395Hepatic fibrosis0POU2AF1 CL E G H5450186ORPHA1399211601206
HP:0001395HP:0001395Hepatic fibrosis0PTRH2 CL E G H51651616263Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset616263C4015728OMIM14924265608625
HP:0001395HP:0001395Hepatic fibrosis0RPGRIP1L CL E G H23322216360COACH syndrome216360C1857662OMIM1149429168610937
HP:0001395HP:0001395Hepatic fibrosis0SCYL1 CL E G H57410466794ORPHA112814372607982
HP:0001395HP:0001395Hepatic fibrosis0SCYL1 CL E G H57410616719Spinocerebellar ataxia, autosomal recessive 21616719C4225236OMIM112814372607982
HP:0001395HP:0001395Hepatic fibrosis0SPIB CL E G H6689186ORPHA13411242606802
HP:0001395HP:0001395Hepatic fibrosis0TALDO1 CL E G H6888606003Deficiency of transaldolase606003C1291329OMIM121011559602063
HP:0001395HP:0001395Hepatic fibrosis0TCF4 CL E G H6925171Le Marec Bracq Picaud syndromeORPHA1106911634602272
HP:0001395HP:0001395Hepatic fibrosis0TMEM67 CL E G H91147216360COACH syndrome216360C1857662OMIM192828396609884
HP:0001395HP:0001395Hepatic fibrosis0TMEM67 CL E G H91147610688Joubert syndrome 6610688C1853153OMIM192828396609884
HP:0001395HP:0001395Hepatic fibrosis0TMEM67 CL E G H91147607361Meckel syndrome type 3607361C1846357OMIM192828396609884
HP:0001395HP:0001395Hepatic fibrosis0TMEM67 CL E G H91147613550Nephronophthisis 11613550C3150796OMIM192828396609884
HP:0001395HP:0001395Hepatic fibrosis0TNFSF15 CL E G H9966186ORPHA15011931604052
HP:0001395HP:0001395Hepatic fibrosis0TNPO3 CL E G H23534186ORPHA157517103610032
HP:0001395HP:0001395Hepatic fibrosis0TTC37 CL E G H9652222470Trichohepatoenteric syndrome 1222470CN034858OMIM123639614589
HP:0001395HP:0002612Congenital hepatic fibrosis1ABCB4 CL E G H5244600803Cholecystitis600803C0008325OMIM153945171060
HP:0001395HP:0001405Periportal fibrosis1ABCB4 CL E G H5244600803Cholecystitis600803C0008325OMIM153945171060
HP:0001395HP:0012852Hepatic bridging fibrosis1ABCB4 CL E G H5244600803Cholecystitis600803C0008325OMIM153945171060
HP:0001395HP:0002612Congenital hepatic fibrosis1ABCD3 CL E G H5825616278Bile acid synthesis defect, congenital, 5616278C4225390OMIM19167170995
HP:0001395HP:0001405Periportal fibrosis1ABCD3 CL E G H5825616278Bile acid synthesis defect, congenital, 5616278C4225390OMIM19167170995
HP:0001395HP:0012852Hepatic bridging fibrosis1ABCD3 CL E G H5825616278Bile acid synthesis defect, congenital, 5616278C4225390OMIM19167170995
HP:0001395HP:0002612Congenital hepatic fibrosis1AGL CL E G H178232400Glycogen storage disease type III232400C0017922OMIM12263321610860
HP:0001395HP:0001405Periportal fibrosis1AGL CL E G H178232400Glycogen storage disease type III232400C0017922OMIM12263321610860
HP:0001395HP:0012852Hepatic bridging fibrosis1AGL CL E G H178232400Glycogen storage disease type III232400C0017922OMIM12263321610860
HP:0001395HP:0002612Congenital hepatic fibrosis1ANKS6 CL E G H203286615382Nephronophthisis 16615382C3809320OMIM136126724615370
HP:0001395HP:0001405Periportal fibrosis1ANKS6 CL E G H203286615382Nephronophthisis 16615382C3809320OMIM136126724615370
HP:0001395HP:0012852Hepatic bridging fibrosis1ANKS6 CL E G H203286615382Nephronophthisis 16615382C3809320OMIM136126724615370
HP:0001395HP:0002612Congenital hepatic fibrosis1AP1S1 CL E G H1174609313Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma609313C1836330OMIM174559603531
HP:0001395HP:0001405Periportal fibrosis1AP1S1 CL E G H1174609313Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma609313C1836330OMIM174559603531
HP:0001395HP:0012852Hepatic bridging fibrosis1AP1S1 CL E G H1174609313Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma609313C1836330OMIM174559603531
HP:0001395HP:0002612Congenital hepatic fibrosis1ASL CL E G H435207900Argininosuccinate lyase deficiency207900C0268547OMIM1674746608310
HP:0001395HP:0001405Periportal fibrosis1ASL CL E G H435207900Argininosuccinate lyase deficiency207900C0268547OMIM1674746608310
HP:0001395HP:0012852Hepatic bridging fibrosis1ASL CL E G H435207900Argininosuccinate lyase deficiency207900C0268547OMIM1674746608310
HP:0001395HP:0002612Congenital hepatic fibrosis1BBS1 CL E G H582209900Bardet-Biedl syndrome 1209900C2936862OMIM1874966209901
HP:0001395HP:0001405Periportal fibrosis1BBS1 CL E G H582209900Bardet-Biedl syndrome 1209900C2936862OMIM1874966209901
HP:0001395HP:0012852Hepatic bridging fibrosis1BBS1 CL E G H582209900Bardet-Biedl syndrome 1209900C2936862OMIM1874966209901
HP:0001395HP:0002612Congenital hepatic fibrosis1CC2D2A CL E G H57545216360COACH syndrome216360C1857662OMIM1152529253612013
HP:0001395HP:0001405Periportal fibrosis1CC2D2A CL E G H57545216360COACH syndrome216360C1857662OMIM1152529253612013
HP:0001395HP:0012852Hepatic bridging fibrosis1CC2D2A CL E G H57545216360COACH syndrome216360C1857662OMIM1152529253612013
HP:0001395HP:0002612Congenital hepatic fibrosis1CC2D2A CL E G H57545612284Meckel syndrome type 6612284C2676790OMIM1152529253612013
HP:0001395HP:0001405Periportal fibrosis1CC2D2A CL E G H57545612284Meckel syndrome type 6612284C2676790OMIM1152529253612013
HP:0001395HP:0012852Hepatic bridging fibrosis1CC2D2A CL E G H57545612284Meckel syndrome type 6612284C2676790OMIM1152529253612013
HP:0001395HP:0002612Congenital hepatic fibrosis1CTNNB1 CL E G H149933402ORPHA16242514116806
HP:0001395HP:0001405Periportal fibrosis1CTNNB1 CL E G H149933402ORPHA16242514116806
HP:0001395HP:0012852Hepatic bridging fibrosis1CTNNB1 CL E G H149933402ORPHA16242514116806
HP:0001395HP:0002612Congenital hepatic fibrosis1DCDC2 CL E G H51473616217Nephronophthisis 19616217C4015542OMIM126118141605755
HP:0001395HP:0001405Periportal fibrosis1DCDC2 CL E G H51473616217Nephronophthisis 19616217C4015542OMIM126118141605755
HP:0001395HP:0012852Hepatic bridging fibrosis1DCDC2 CL E G H51473616217Nephronophthisis 19616217C4015542OMIM126118141605755
HP:0001395HP:0002612Congenital hepatic fibrosis1FADD CL E G H8772306550ORPHA11103573602457
HP:0001395HP:0001405Periportal fibrosis1FADD CL E G H8772306550ORPHA11103573602457
HP:0001395HP:0012852Hepatic bridging fibrosis1FADD CL E G H8772306550ORPHA11103573602457
HP:0001395HP:0002612Congenital hepatic fibrosis1GLIS3 CL E G H169792610199Diabetes mellitus, neonatal, with congenital hypothyroidism610199C1857775OMIM168628510610192
HP:0001395HP:0001405Periportal fibrosis1GLIS3 CL E G H169792610199Diabetes mellitus, neonatal, with congenital hypothyroidism610199C1857775OMIM168628510610192
HP:0001395HP:0012852Hepatic bridging fibrosis1GLIS3 CL E G H169792610199Diabetes mellitus, neonatal, with congenital hypothyroidism610199C1857775OMIM168628510610192
HP:0001395HP:0002612Congenital hepatic fibrosis1GPD1 CL E G H2819614480Hypertriglyceridemia, transient infantile614480C3280953OMIM1964455138420
HP:0001395HP:0001405Periportal fibrosis1GPD1 CL E G H2819614480Hypertriglyceridemia, transient infantile614480C3280953OMIM1964455138420
HP:0001395HP:0012852Hepatic bridging fibrosis1GPD1 CL E G H2819614480Hypertriglyceridemia, transient infantile614480C3280953OMIM1964455138420
HP:0001395HP:0002612Congenital hepatic fibrosis1GPR35 CL E G H2859171Le Marec Bracq Picaud syndromeORPHA11394492602646
HP:0001395HP:0001405Periportal fibrosis1GPR35 CL E G H2859171Le Marec Bracq Picaud syndromeORPHA11394492602646
HP:0001395HP:0012852Hepatic bridging fibrosis1GPR35 CL E G H2859171Le Marec Bracq Picaud syndromeORPHA11394492602646
HP:0001395HP:0002612Congenital hepatic fibrosis1IFT122 CL E G H55764218330Cranioectodermal dysplasia 1218330C0432235OMIM164813556606045
HP:0001395HP:0001405Periportal fibrosis1IFT122 CL E G H55764218330Cranioectodermal dysplasia 1218330C0432235OMIM164813556606045
HP:0001395HP:0012852Hepatic bridging fibrosis1IFT122 CL E G H55764218330Cranioectodermal dysplasia 1218330C0432235OMIM164813556606045
HP:0001395HP:0002612Congenital hepatic fibrosis1IFT140 CL E G H9742266920Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia266920C1849437OMIM1168629077614620
HP:0001395HP:0001405Periportal fibrosis1IFT140 CL E G H9742266920Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia266920C1849437OMIM1168629077614620
HP:0001395HP:0012852Hepatic bridging fibrosis1IFT140 CL E G H9742266920Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia266920C1849437OMIM1168629077614620
HP:0001395HP:0002612Congenital hepatic fibrosis1IFT172 CL E G H26160615630Short-rib thoracic dysplasia 10 with or without polydactyly615630C3810175OMIM1135630391607386
HP:0001395HP:0001405Periportal fibrosis1IFT172 CL E G H26160615630Short-rib thoracic dysplasia 10 with or without polydactyly615630C3810175OMIM1135630391607386
HP:0001395HP:0012852Hepatic bridging fibrosis1IFT172 CL E G H26160615630Short-rib thoracic dysplasia 10 with or without polydactyly615630C3810175OMIM1135630391607386
HP:0001395HP:0002612Congenital hepatic fibrosis1IL12A CL E G H3592186ORPHA1345969161560
HP:0001395HP:0001405Periportal fibrosis1IL12A CL E G H3592186ORPHA1345969161560
HP:0001395HP:0012852Hepatic bridging fibrosis1IL12A CL E G H3592186ORPHA1345969161560
HP:0001395HP:0002612Congenital hepatic fibrosis1IL12RB1 CL E G H3594186ORPHA14655971601604
HP:0001395HP:0001405Periportal fibrosis1IL12RB1 CL E G H3594186ORPHA14655971601604
HP:0001395HP:0012852Hepatic bridging fibrosis1IL12RB1 CL E G H3594186ORPHA14655971601604
HP:0001395HP:0002612Congenital hepatic fibrosis1INPP5E CL E G H56623213300Joubert syndrome 1213300CN119531OMIM178221474613037
HP:0001395HP:0001405Periportal fibrosis1INPP5E CL E G H56623213300Joubert syndrome 1213300CN119531OMIM178221474613037
HP:0001395HP:0012852Hepatic bridging fibrosis1INPP5E CL E G H56623213300Joubert syndrome 1213300CN119531OMIM178221474613037
HP:0001395HP:0002612Congenital hepatic fibrosis1INSR CL E G H3643508Acroosteolysis dominant typeORPHA16226091147670
HP:0001395HP:0001405Periportal fibrosis1INSR CL E G H3643508Acroosteolysis dominant typeORPHA16226091147670
HP:0001395HP:0012852Hepatic bridging fibrosis1INSR CL E G H3643508Acroosteolysis dominant typeORPHA16226091147670
HP:0001395HP:0002612Congenital hepatic fibrosis1INSR CL E G H3643246200Leprechaunism syndrome246200C0265344OMIM16226091147670
HP:0001395HP:0001405Periportal fibrosis1INSR CL E G H3643246200Leprechaunism syndrome246200C0265344OMIM16226091147670
HP:0001395HP:0012852Hepatic bridging fibrosis1INSR CL E G H3643246200Leprechaunism syndrome246200C0265344OMIM16226091147670
HP:0001395HP:0002612Congenital hepatic fibrosis1IRF5 CL E G H3663186ORPHA1656120607218
HP:0001395HP:0001405Periportal fibrosis1IRF5 CL E G H3663186ORPHA1656120607218
HP:0001395HP:0012852Hepatic bridging fibrosis1IRF5 CL E G H3663186ORPHA1656120607218
HP:0001395HP:0002612Congenital hepatic fibrosis1LIPA CL E G H3988278000Lysosomal acid lipase deficiency278000C0043208OMIM15616617613497
HP:0001395HP:0001405Periportal fibrosis1LIPA CL E G H3988278000Lysosomal acid lipase deficiency278000C0043208OMIM15616617613497
HP:0001395HP:0012852Hepatic bridging fibrosis1LIPA CL E G H3988278000Lysosomal acid lipase deficiency278000C0043208OMIM15616617613497
HP:0001395HP:0002612Congenital hepatic fibrosis1MET CL E G H423333402ORPHA131847029164860
HP:0001395HP:0001405Periportal fibrosis1MET CL E G H423333402ORPHA131847029164860
HP:0001395HP:0012852Hepatic bridging fibrosis1MET CL E G H423333402ORPHA131847029164860
HP:0001395HP:0002612Congenital hepatic fibrosis1MMEL1 CL E G H79258186ORPHA118114668618104
HP:0001395HP:0001405Periportal fibrosis1MMEL1 CL E G H79258186ORPHA118114668618104
HP:0001395HP:0012852Hepatic bridging fibrosis1MMEL1 CL E G H79258186ORPHA118114668618104
HP:0001395HP:0002612Congenital hepatic fibrosis1MPI CL E G H4351602579Congenital disorder of glycosylation type 1B602579C1865145OMIM13987216154550
HP:0001395HP:0001405Periportal fibrosis1MPI CL E G H4351602579Congenital disorder of glycosylation type 1B602579C1865145OMIM13987216154550
HP:0001395HP:0012852Hepatic bridging fibrosis1MPI CL E G H4351602579Congenital disorder of glycosylation type 1B602579C1865145OMIM13987216154550
HP:0001395HP:0002612Congenital hepatic fibrosis1MST1 CL E G H4485171Le Marec Bracq Picaud syndromeORPHA1577380142408
HP:0001395HP:0001405Periportal fibrosis1MST1 CL E G H4485171Le Marec Bracq Picaud syndromeORPHA1577380142408
HP:0001395HP:0012852Hepatic bridging fibrosis1MST1 CL E G H4485171Le Marec Bracq Picaud syndromeORPHA1577380142408
HP:0001395HP:0002612Congenital hepatic fibrosis1NEK8 CL E G H284086615415Renal-hepatic-pancreatic dysplasia 2615415C3809434OMIM127913387609799
HP:0001395HP:0001405Periportal fibrosis1NEK8 CL E G H284086615415Renal-hepatic-pancreatic dysplasia 2615415C3809434OMIM127913387609799
HP:0001395HP:0012852Hepatic bridging fibrosis1NEK8 CL E G H284086615415Renal-hepatic-pancreatic dysplasia 2615415C3809434OMIM127913387609799
HP:0001395HP:0002612Congenital hepatic fibrosis1NHP2 CL E G H55651224230Dyskeratosis congenita autosomal recessive 1224230C1857144OMIM119614377606470
HP:0001395HP:0001405Periportal fibrosis1NHP2 CL E G H55651224230Dyskeratosis congenita autosomal recessive 1224230C1857144OMIM119614377606470
HP:0001395HP:0012852Hepatic bridging fibrosis1NHP2 CL E G H55651224230Dyskeratosis congenita autosomal recessive 1224230C1857144OMIM119614377606470
HP:0001395HP:0002612Congenital hepatic fibrosis1NOP10 CL E G H55505224230Dyskeratosis congenita autosomal recessive 1224230C1857144OMIM110214378606471
HP:0001395HP:0001405Periportal fibrosis1NOP10 CL E G H55505224230Dyskeratosis congenita autosomal recessive 1224230C1857144OMIM110214378606471
HP:0001395HP:0012852Hepatic bridging fibrosis1NOP10 CL E G H55505224230Dyskeratosis congenita autosomal recessive 1224230C1857144OMIM110214378606471
HP:0001395HP:0002612Congenital hepatic fibrosis1NPHP3 CL E G H27031604387Adolescent nephronophthisis604387C1858392OMIM111067907608002
HP:0001395HP:0001405Periportal fibrosis1NPHP3 CL E G H27031604387Adolescent nephronophthisis604387C1858392OMIM111067907608002
HP:0001395HP:0012852Hepatic bridging fibrosis1NPHP3 CL E G H27031604387Adolescent nephronophthisis604387C1858392OMIM111067907608002
HP:0001395HP:0002612Congenital hepatic fibrosis1NPHP3 CL E G H27031208540Renal-hepatic-pancreatic dysplasia208540C2673883OMIM111067907608002
HP:0001395HP:0001405Periportal fibrosis1NPHP3 CL E G H27031208540Renal-hepatic-pancreatic dysplasia208540C2673883OMIM111067907608002
HP:0001395HP:0012852Hepatic bridging fibrosis1NPHP3 CL E G H27031208540Renal-hepatic-pancreatic dysplasia208540C2673883OMIM111067907608002
HP:0001395HP:0002612Congenital hepatic fibrosis1OFD1 CL E G H8481311200Oral-facial-digital syndrome311200C1510460OMIM110202567300170
HP:0001395HP:0001405Periportal fibrosis1OFD1 CL E G H8481311200Oral-facial-digital syndrome311200C1510460OMIM110202567300170
HP:0001395HP:0012852Hepatic bridging fibrosis1OFD1 CL E G H8481311200Oral-facial-digital syndrome311200C1510460OMIM110202567300170
HP:0001395HP:0002612Congenital hepatic fibrosis1PEX1 CL E G H5189601539Peroxisome biogenesis disorder 1B601539CN168921OMIM115378850602136
HP:0001395HP:0001405Periportal fibrosis1PEX1 CL E G H5189601539Peroxisome biogenesis disorder 1B601539CN168921OMIM115378850602136
HP:0001395HP:0012852Hepatic bridging fibrosis1PEX1 CL E G H5189601539Peroxisome biogenesis disorder 1B601539CN168921OMIM115378850602136
HP:0001395HP:0002612Congenital hepatic fibrosis1PLIN1 CL E G H5346280356ORPHA11389076170290
HP:0001395HP:0001405Periportal fibrosis1PLIN1 CL E G H5346280356ORPHA11389076170290
HP:0001395HP:0012852Hepatic bridging fibrosis1PLIN1 CL E G H5346280356ORPHA11389076170290
HP:0001395HP:0002612Congenital hepatic fibrosis1PMM2 CL E G H5373212065Carbohydrate-deficient glycoprotein syndrome type I212065C0349653OMIM17459115601785
HP:0001395HP:0001405Periportal fibrosis1PMM2 CL E G H5373212065Carbohydrate-deficient glycoprotein syndrome type I212065C0349653OMIM17459115601785
HP:0001395HP:0012852Hepatic bridging fibrosis1PMM2 CL E G H5373212065Carbohydrate-deficient glycoprotein syndrome type I212065C0349653OMIM17459115601785
HP:0001395HP:0002612Congenital hepatic fibrosis1POU2AF1 CL E G H5450186ORPHA1399211601206
HP:0001395HP:0001405Periportal fibrosis1POU2AF1 CL E G H5450186ORPHA1399211601206
HP:0001395HP:0012852Hepatic bridging fibrosis1POU2AF1 CL E G H5450186ORPHA1399211601206
HP:0001395HP:0002612Congenital hepatic fibrosis1PTRH2 CL E G H51651616263Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset616263C4015728OMIM14924265608625
HP:0001395HP:0001405Periportal fibrosis1PTRH2 CL E G H51651616263Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset616263C4015728OMIM14924265608625
HP:0001395HP:0012852Hepatic bridging fibrosis1PTRH2 CL E G H51651616263Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset616263C4015728OMIM14924265608625
HP:0001395HP:0002612Congenital hepatic fibrosis1RPGRIP1L CL E G H23322216360COACH syndrome216360C1857662OMIM1149429168610937
HP:0001395HP:0001405Periportal fibrosis1RPGRIP1L CL E G H23322216360COACH syndrome216360C1857662OMIM1149429168610937
HP:0001395HP:0012852Hepatic bridging fibrosis1RPGRIP1L CL E G H23322216360COACH syndrome216360C1857662OMIM1149429168610937
HP:0001395HP:0002612Congenital hepatic fibrosis1SCYL1 CL E G H57410466794ORPHA112814372607982
HP:0001395HP:0001405Periportal fibrosis1SCYL1 CL E G H57410466794ORPHA112814372607982
HP:0001395HP:0012852Hepatic bridging fibrosis1SCYL1 CL E G H57410466794ORPHA112814372607982
HP:0001395HP:0002612Congenital hepatic fibrosis1SCYL1 CL E G H57410616719Spinocerebellar ataxia, autosomal recessive 21616719C4225236OMIM112814372607982
HP:0001395HP:0001405Periportal fibrosis1SCYL1 CL E G H57410616719Spinocerebellar ataxia, autosomal recessive 21616719C4225236OMIM112814372607982
HP:0001395HP:0012852Hepatic bridging fibrosis1SCYL1 CL E G H57410616719Spinocerebellar ataxia, autosomal recessive 21616719C4225236OMIM112814372607982
HP:0001395HP:0002612Congenital hepatic fibrosis1SPIB CL E G H6689186ORPHA13411242606802
HP:0001395HP:0001405Periportal fibrosis1SPIB CL E G H6689186ORPHA13411242606802
HP:0001395HP:0012852Hepatic bridging fibrosis1SPIB CL E G H6689186ORPHA13411242606802
HP:0001395HP:0002612Congenital hepatic fibrosis1TALDO1 CL E G H6888606003Deficiency of transaldolase606003C1291329OMIM121011559602063
HP:0001395HP:0001405Periportal fibrosis1TALDO1 CL E G H6888606003Deficiency of transaldolase606003C1291329OMIM121011559602063
HP:0001395HP:0012852Hepatic bridging fibrosis1TALDO1 CL E G H6888606003Deficiency of transaldolase606003C1291329OMIM121011559602063
HP:0001395HP:0002612Congenital hepatic fibrosis1TCF4 CL E G H6925171Le Marec Bracq Picaud syndromeORPHA1106911634602272
HP:0001395HP:0001405Periportal fibrosis1TCF4 CL E G H6925171Le Marec Bracq Picaud syndromeORPHA1106911634602272
HP:0001395HP:0012852Hepatic bridging fibrosis1TCF4 CL E G H6925171Le Marec Bracq Picaud syndromeORPHA1106911634602272
HP:0001395HP:0002612Congenital hepatic fibrosis1TMEM67 CL E G H91147216360COACH syndrome216360C1857662OMIM192828396609884
HP:0001395HP:0001405Periportal fibrosis1TMEM67 CL E G H91147216360COACH syndrome216360C1857662OMIM192828396609884
HP:0001395HP:0012852Hepatic bridging fibrosis1TMEM67 CL E G H91147216360COACH syndrome216360C1857662OMIM192828396609884
HP:0001395HP:0002612Congenital hepatic fibrosis1TMEM67 CL E G H91147610688Joubert syndrome 6610688C1853153OMIM192828396609884
HP:0001395HP:0001405Periportal fibrosis1TMEM67 CL E G H91147610688Joubert syndrome 6610688C1853153OMIM192828396609884
HP:0001395HP:0012852Hepatic bridging fibrosis1TMEM67 CL E G H91147610688Joubert syndrome 6610688C1853153OMIM192828396609884
HP:0001395HP:0002612Congenital hepatic fibrosis1TMEM67 CL E G H91147607361Meckel syndrome type 3607361C1846357OMIM192828396609884
HP:0001395HP:0001405Periportal fibrosis1TMEM67 CL E G H91147607361Meckel syndrome type 3607361C1846357OMIM192828396609884
HP:0001395HP:0012852Hepatic bridging fibrosis1TMEM67 CL E G H91147607361Meckel syndrome type 3607361C1846357OMIM192828396609884
HP:0001395HP:0002612Congenital hepatic fibrosis1TMEM67 CL E G H91147613550Nephronophthisis 11613550C3150796OMIM192828396609884
HP:0001395HP:0001405Periportal fibrosis1TMEM67 CL E G H91147613550Nephronophthisis 11613550C3150796OMIM192828396609884
HP:0001395HP:0012852Hepatic bridging fibrosis1TMEM67 CL E G H91147613550Nephronophthisis 11613550C3150796OMIM192828396609884
HP:0001395HP:0002612Congenital hepatic fibrosis1TNFSF15 CL E G H9966186ORPHA15011931604052
HP:0001395HP:0001405Periportal fibrosis1TNFSF15 CL E G H9966186ORPHA15011931604052
HP:0001395HP:0012852Hepatic bridging fibrosis1TNFSF15 CL E G H9966186ORPHA15011931604052
HP:0001395HP:0002612Congenital hepatic fibrosis1TNPO3 CL E G H23534186ORPHA157517103610032
HP:0001395HP:0001405Periportal fibrosis1TNPO3 CL E G H23534186ORPHA157517103610032
HP:0001395HP:0012852Hepatic bridging fibrosis1TNPO3 CL E G H23534186ORPHA157517103610032
HP:0001395HP:0002612Congenital hepatic fibrosis1TTC37 CL E G H9652222470Trichohepatoenteric syndrome 1222470CN034858OMIM123639614589
HP:0001395HP:0001405Periportal fibrosis1TTC37 CL E G H9652222470Trichohepatoenteric syndrome 1222470CN034858OMIM123639614589
HP:0001395HP:0012852Hepatic bridging fibrosis1TTC37 CL E G H9652222470Trichohepatoenteric syndrome 1222470CN034858OMIM123639614589
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001395HP:0001395Hepatic fibrosis0ARL6 CL E G H84100110ORPHA020113210608845
HP:0001395HP:0001395Hepatic fibrosis0BBIP1 CL E G H92482110ORPHA09828093613605
HP:0001395HP:0001395Hepatic fibrosis0BBS1 CL E G H582110ORPHA0874966209901
HP:0001395HP:0001395Hepatic fibrosis0BBS10 CL E G H79738110ORPHA075626291610148
HP:0001395HP:0001395Hepatic fibrosis0BBS12 CL E G H166379110ORPHA063426648610683
HP:0001395HP:0001395Hepatic fibrosis0BBS2 CL E G H583110ORPHA0894967606151
HP:0001395HP:0001395Hepatic fibrosis0BBS4 CL E G H585110ORPHA0563969600374
HP:0001395HP:0001395Hepatic fibrosis0BBS5 CL E G H129880110ORPHA0288970603650
HP:0001395HP:0001395Hepatic fibrosis0BBS7 CL E G H55212110ORPHA050618758607590
HP:0001395HP:0001395Hepatic fibrosis0BBS9 CL E G H27241110ORPHA077530000607968
HP:0001395HP:0001395Hepatic fibrosis0C8orf37 CL E G H157657110ORPHA027232614477
HP:0001395HP:0001395Hepatic fibrosis0CEP290 CL E G H80184110ORPHA0294429021610142
HP:0001395HP:0001395Hepatic fibrosis0DLL4 CL E G H54567616589Adams-Oliver syndrome 6616589C4225271OMIM02122910605185
HP:0001395HP:0001395Hepatic fibrosis0IFT172 CL E G H26160110ORPHA0135630391607386
HP:0001395HP:0001395Hepatic fibrosis0IFT27 CL E G H11020110ORPHA016118626615870
HP:0001395HP:0001395Hepatic fibrosis0LZTFL1 CL E G H54585110ORPHA01626741606568
HP:0001395HP:0001395Hepatic fibrosis0MKKS CL E G H8195110ORPHA04327108604896
HP:0001395HP:0001395Hepatic fibrosis0MKS1 CL E G H54903110ORPHA08397121609883
HP:0001395HP:0001395Hepatic fibrosis0NEK1 CL E G H4750263520Short rib-polydactyly syndrome, Majewski type263520C0024507OMIM06797744604588
HP:0001395HP:0001395Hepatic fibrosis0NPHP1 CL E G H4867110ORPHA08157905607100
HP:0001395HP:0001395Hepatic fibrosis0SDCCAG8 CL E G H10806110ORPHA065110671613524
HP:0001395HP:0001395Hepatic fibrosis0TRAF3IP1 CL E G H26146616629Senior-Loken syndrome 9616629C4225263OMIM060917861607380
HP:0001395HP:0001395Hepatic fibrosis0TRIM32 CL E G H22954110ORPHA062716380602290
HP:0001395HP:0001395Hepatic fibrosis0TTC8 CL E G H123016110ORPHA042720087608132
HP:0001395HP:0001395Hepatic fibrosis0WDPCP CL E G H51057110ORPHA058728027613580
HP:0001395HP:0002612Congenital hepatic fibrosis1ARL6 CL E G H84100110ORPHA020113210608845
HP:0001395HP:0001405Periportal fibrosis1ARL6 CL E G H84100110ORPHA020113210608845
HP:0001395HP:0012852Hepatic bridging fibrosis1ARL6 CL E G H84100110ORPHA020113210608845
HP:0001395HP:0002612Congenital hepatic fibrosis1BBIP1 CL E G H92482110ORPHA09828093613605
HP:0001395HP:0001405Periportal fibrosis1BBIP1 CL E G H92482110ORPHA09828093613605
HP:0001395HP:0012852Hepatic bridging fibrosis1BBIP1 CL E G H92482110ORPHA09828093613605
HP:0001395HP:0002612Congenital hepatic fibrosis1BBS1 CL E G H582110ORPHA0874966209901
HP:0001395HP:0001405Periportal fibrosis1BBS1 CL E G H582110ORPHA0874966209901
HP:0001395HP:0012852Hepatic bridging fibrosis1BBS1 CL E G H582110ORPHA0874966209901
HP:0001395HP:0002612Congenital hepatic fibrosis1BBS10 CL E G H79738110ORPHA075626291610148
HP:0001395HP:0001405Periportal fibrosis1BBS10 CL E G H79738110ORPHA075626291610148
HP:0001395HP:0012852Hepatic bridging fibrosis1BBS10 CL E G H79738110ORPHA075626291610148
HP:0001395HP:0002612Congenital hepatic fibrosis1BBS12 CL E G H166379110ORPHA063426648610683
HP:0001395HP:0001405Periportal fibrosis1BBS12 CL E G H166379110ORPHA063426648610683
HP:0001395HP:0012852Hepatic bridging fibrosis1BBS12 CL E G H166379110ORPHA063426648610683
HP:0001395HP:0002612Congenital hepatic fibrosis1BBS2 CL E G H583110ORPHA0894967606151
HP:0001395HP:0001405Periportal fibrosis1BBS2 CL E G H583110ORPHA0894967606151
HP:0001395HP:0012852Hepatic bridging fibrosis1BBS2 CL E G H583110ORPHA0894967606151
HP:0001395HP:0002612Congenital hepatic fibrosis1BBS4 CL E G H585110ORPHA0563969600374
HP:0001395HP:0001405Periportal fibrosis1BBS4 CL E G H585110ORPHA0563969600374
HP:0001395HP:0012852Hepatic bridging fibrosis1BBS4 CL E G H585110ORPHA0563969600374
HP:0001395HP:0002612Congenital hepatic fibrosis1BBS5 CL E G H129880110ORPHA0288970603650
HP:0001395HP:0001405Periportal fibrosis1BBS5 CL E G H129880110ORPHA0288970603650
HP:0001395HP:0012852Hepatic bridging fibrosis1BBS5 CL E G H129880110ORPHA0288970603650
HP:0001395HP:0002612Congenital hepatic fibrosis1BBS7 CL E G H55212110ORPHA050618758607590
HP:0001395HP:0001405Periportal fibrosis1BBS7 CL E G H55212110ORPHA050618758607590
HP:0001395HP:0012852Hepatic bridging fibrosis1BBS7 CL E G H55212110ORPHA050618758607590
HP:0001395HP:0002612Congenital hepatic fibrosis1BBS9 CL E G H27241110ORPHA077530000607968
HP:0001395HP:0001405Periportal fibrosis1BBS9 CL E G H27241110ORPHA077530000607968
HP:0001395HP:0012852Hepatic bridging fibrosis1BBS9 CL E G H27241110ORPHA077530000607968
HP:0001395HP:0002612Congenital hepatic fibrosis1C8orf37 CL E G H157657110ORPHA027232614477
HP:0001395HP:0001405Periportal fibrosis1C8orf37 CL E G H157657110ORPHA027232614477
HP:0001395HP:0012852Hepatic bridging fibrosis1C8orf37 CL E G H157657110ORPHA027232614477
HP:0001395HP:0002612Congenital hepatic fibrosis1CEP290 CL E G H80184110ORPHA0294429021610142
HP:0001395HP:0001405Periportal fibrosis1CEP290 CL E G H80184110ORPHA0294429021610142
HP:0001395HP:0012852Hepatic bridging fibrosis1CEP290 CL E G H80184110ORPHA0294429021610142
HP:0001395HP:0002612Congenital hepatic fibrosis1DLL4 CL E G H54567616589Adams-Oliver syndrome 6616589C4225271OMIM02122910605185
HP:0001395HP:0001405Periportal fibrosis1DLL4 CL E G H54567616589Adams-Oliver syndrome 6616589C4225271OMIM02122910605185
HP:0001395HP:0012852Hepatic bridging fibrosis1DLL4 CL E G H54567616589Adams-Oliver syndrome 6616589C4225271OMIM02122910605185
HP:0001395HP:0002612Congenital hepatic fibrosis1IFT172 CL E G H26160110ORPHA0135630391607386
HP:0001395HP:0001405Periportal fibrosis1IFT172 CL E G H26160110ORPHA0135630391607386
HP:0001395HP:0012852Hepatic bridging fibrosis1IFT172 CL E G H26160110ORPHA0135630391607386
HP:0001395HP:0002612Congenital hepatic fibrosis1IFT27 CL E G H11020110ORPHA016118626615870
HP:0001395HP:0001405Periportal fibrosis1IFT27 CL E G H11020110ORPHA016118626615870
HP:0001395HP:0012852Hepatic bridging fibrosis1IFT27 CL E G H11020110ORPHA016118626615870
HP:0001395HP:0002612Congenital hepatic fibrosis1LZTFL1 CL E G H54585110ORPHA01626741606568
HP:0001395HP:0001405Periportal fibrosis1LZTFL1 CL E G H54585110ORPHA01626741606568
HP:0001395HP:0012852Hepatic bridging fibrosis1LZTFL1 CL E G H54585110ORPHA01626741606568
HP:0001395HP:0002612Congenital hepatic fibrosis1MKKS CL E G H8195110ORPHA04327108604896
HP:0001395HP:0001405Periportal fibrosis1MKKS CL E G H8195110ORPHA04327108604896
HP:0001395HP:0012852Hepatic bridging fibrosis1MKKS CL E G H8195110ORPHA04327108604896
HP:0001395HP:0002612Congenital hepatic fibrosis1MKS1 CL E G H54903110ORPHA08397121609883
HP:0001395HP:0001405Periportal fibrosis1MKS1 CL E G H54903110ORPHA08397121609883
HP:0001395HP:0012852Hepatic bridging fibrosis1MKS1 CL E G H54903110ORPHA08397121609883
HP:0001395HP:0002612Congenital hepatic fibrosis1NEK1 CL E G H4750263520Short rib-polydactyly syndrome, Majewski type263520C0024507OMIM06797744604588
HP:0001395HP:0001405Periportal fibrosis1NEK1 CL E G H4750263520Short rib-polydactyly syndrome, Majewski type263520C0024507OMIM06797744604588
HP:0001395HP:0012852Hepatic bridging fibrosis1NEK1 CL E G H4750263520Short rib-polydactyly syndrome, Majewski type263520C0024507OMIM06797744604588
HP:0001395HP:0002612Congenital hepatic fibrosis1NPHP1 CL E G H4867110ORPHA08157905607100
HP:0001395HP:0001405Periportal fibrosis1NPHP1 CL E G H4867110ORPHA08157905607100
HP:0001395HP:0012852Hepatic bridging fibrosis1NPHP1 CL E G H4867110ORPHA08157905607100
HP:0001395HP:0002612Congenital hepatic fibrosis1SDCCAG8 CL E G H10806110ORPHA065110671613524
HP:0001395HP:0001405Periportal fibrosis1SDCCAG8 CL E G H10806110ORPHA065110671613524
HP:0001395HP:0012852Hepatic bridging fibrosis1SDCCAG8 CL E G H10806110ORPHA065110671613524
HP:0001395HP:0002612Congenital hepatic fibrosis1TRAF3IP1 CL E G H26146616629Senior-Loken syndrome 9616629C4225263OMIM060917861607380
HP:0001395HP:0001405Periportal fibrosis1TRAF3IP1 CL E G H26146616629Senior-Loken syndrome 9616629C4225263OMIM060917861607380
HP:0001395HP:0012852Hepatic bridging fibrosis1TRAF3IP1 CL E G H26146616629Senior-Loken syndrome 9616629C4225263OMIM060917861607380
HP:0001395HP:0002612Congenital hepatic fibrosis1TRIM32 CL E G H22954110ORPHA062716380602290
HP:0001395HP:0001405Periportal fibrosis1TRIM32 CL E G H22954110ORPHA062716380602290
HP:0001395HP:0012852Hepatic bridging fibrosis1TRIM32 CL E G H22954110ORPHA062716380602290
HP:0001395HP:0002612Congenital hepatic fibrosis1TTC8 CL E G H123016110ORPHA042720087608132
HP:0001395HP:0001405Periportal fibrosis1TTC8 CL E G H123016110ORPHA042720087608132
HP:0001395HP:0012852Hepatic bridging fibrosis1TTC8 CL E G H123016110ORPHA042720087608132
HP:0001395HP:0002612Congenital hepatic fibrosis1WDPCP CL E G H51057110ORPHA058728027613580
HP:0001395HP:0001405Periportal fibrosis1WDPCP CL E G H51057110ORPHA058728027613580
HP:0001395HP:0012852Hepatic bridging fibrosis1WDPCP CL E G H51057110ORPHA058728027613580


Genes (103) :ABCB4 ABCD3 AGL ALG9 ANKS6 AP1S1 ARHGAP31 ARL6 ASL B9D1 B9D2 BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 C8ORF37 CC2D2A CEP164 CEP290 CEP55 CSPP1 CTNNB1 CYP7B1 DCDC2 DGUOK DLL4 DOCK6 DOLK DYNC2H1 DZIP1L EOGT FADD GLIS3 GPD1 GPR35 HAMP HJV IFT122 IFT140 IFT172 IFT27 IFT80 IL12A IL12RB1 INPP5E INSR INVS IQCB1 IRF5 LIPA LZTFL1 MET MKKS MKS1 MMEL1 MPI MST1 NEK1 NEK8 NHP2 NOP10 NOTCH1 NPHP1 NPHP3 NPHP4 OFD1 PEX1 PKHD1 PLIN1 PMM2 PNPLA6 POU2AF1 PTRH2 RBPJ RPGRIP1 RPGRIP1L SCYL1 SDCCAG8 SLC40A1 SPIB TALDO1 TCF4 TCTN2 TMEM107 TMEM216 TMEM231 TMEM67 TNFSF15 TNPO3 TRAF3IP1 TRIM32 TTC37 TTC8 WDPCP WDR19 WDR34 WDR35 WDR60

Diseases (59) :600803 616278 232400 615382 609313 110 207900 209900 216360 612284 33402 616217 616589 306550 610199 614480 171 218330 266920 615630 186 213300 508 246200 278000 602579 263520 615415 224230 604387 208540 311200 601539 280356 212065 616263 466794 616719 606003 610688 607361 613550 616629 222470 263210 974 564 1454 3156 79302 251880 91131 93271 731 79230 79319 263200 2377 139491
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.