Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the gastrointestinal tract (HP:0011024)help
Grandparent Node:
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Neoplasm by anatomical site (HP:0011793)help
Parent Node:
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Abnormality of the liver (HP:0001392)help
Parent Node:
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Neoplasm of the gastrointestinal tract (HP:0007378)help
..Starting node
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Neoplasm of the liver (HP:0002896)help
Term ID: 2896
Name: Neoplasm of the liver
Synonym: Liver cancer; Liver tumor
Definition: A tumor (abnormal growth of tissue) of the liver.
Comments:
Reference: HP:0002896
Genes and Diseases:
 
       Child Nodes:
........expandHepatocellular carcinoma (HP:0001402) help
........expandHepatoblastoma (HP:0002884) help
........expandHepatocellular adenoma (HP:0012028) help
........expandHepatic hemangioma (HP:0031207) help

 Sister Nodes: 
..expandAmpulla of Vater carcinoma (HP:0031524) help
..expandBenign gastrointestinal tract tumors (HP:0006719) help
..expandBiliary tract neoplasm (HP:0100574) help
..expandDesmoid tumors (HP:0100245) help
..expandEsophageal neoplasm (HP:0100751) help
..expandGastrointestinal stroma tumor (HP:0100723) help
..expandIntestinal carcinoid (HP:0006723) help
..expandIntestinal polyp (HP:0005266) help
..expandMalignant gastrointestinal tract tumors (HP:0006749) help
..expandMultiple intestinal neurofibromatosis (HP:0005220) help
..expandNeoplasm of the large intestine (HP:0100834) help
..expandNeoplasm of the small intestine (HP:0100833) help
..expandNeoplasm of the stomach (HP:0006753) help
..expandPrimary peritoneal carcinoma (HP:0030406) help
..expandZollinger-Ellison syndrome (HP:0002044) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002896HP:0002896Neoplasm of the liver0BRCA1 CL E G H6721333Chromosome 19, ringCN036553ORPHA028241100113705
HP:0002896HP:0002896Neoplasm of the liver0BRCA2 CL E G H675654Ampola syndromeORPHA030251101600185
HP:0002896HP:0002896Neoplasm of the liver0BRCA2 CL E G H6751333Chromosome 19, ringCN036553ORPHA030251101600185
HP:0002896HP:0002896Neoplasm of the liver0C11orf95 CL E G H65998251636ORPHA028449615699
HP:0002896HP:0002896Neoplasm of the liver0CC2D2A CL E G H575451454Common atrioventricular canalC0221215ORPHA09629253612013
HP:0002896HP:0002896Neoplasm of the liver0CDKN2A CL E G H10291333Chromosome 19, ringCN036553ORPHA02431787600160
HP:0002896HP:0002896Neoplasm of the liver0DIS3L2 CL E G H129563654Ampola syndromeORPHA01428648614184
HP:0002896HP:0002896Neoplasm of the liver0GPC3 CL E G H2719654Ampola syndromeORPHA0984451300037
HP:0002896HP:0002896Neoplasm of the liver0H19 CL E G H283120654Ampola syndromeORPHA0384713103280
HP:0002896HP:0002896Neoplasm of the liver0HBB CL E G H3043231222ORPHA08714827141900
HP:0002896HP:0002896Neoplasm of the liver0HBB CL E G H3043231214ORPHA08714827141900
HP:0002896HP:0002896Neoplasm of the liver0INPP5E CL E G H566231454Common atrioventricular canalC0221215ORPHA05421474613037
HP:0002896HP:0002896Neoplasm of the liver0KRAS CL E G H38451333Chromosome 19, ringCN036553ORPHA0456407190070
HP:0002896HP:0002896Neoplasm of the liver0MLH1 CL E G H4292587Al Gazali Sabrinathan Nair syndromeORPHA012037127120436
HP:0002896HP:0002896Neoplasm of the liver0MSH2 CL E G H4436587Al Gazali Sabrinathan Nair syndromeORPHA012647325609309
HP:0002896HP:0002896Neoplasm of the liver0MSH6 CL E G H2956587Al Gazali Sabrinathan Nair syndromeORPHA06027329600678
HP:0002896HP:0002896Neoplasm of the liver0PALB2 CL E G H797281333Chromosome 19, ringCN036553ORPHA041726144610355
HP:0002896HP:0002896Neoplasm of the liver0PALLD CL E G H230221333Chromosome 19, ringCN036553ORPHA0417068608092
HP:0002896HP:0002896Neoplasm of the liver0POU6F2 CL E G H11281654Ampola syndromeORPHA0421694609062
HP:0002896HP:0002896Neoplasm of the liver0RELA CL E G H5970251636ORPHA039955164014
HP:0002896HP:0002896Neoplasm of the liver0REST CL E G H5978654Ampola syndromeORPHA0179966600571
HP:0002896HP:0002896Neoplasm of the liver0RPGRIP1L CL E G H233221454Common atrioventricular canalC0221215ORPHA05129168610937
HP:0002896HP:0002896Neoplasm of the liver0SMAD4 CL E G H40891333Chromosome 19, ringCN036553ORPHA01476770600993
HP:0002896HP:0002896Neoplasm of the liver0TMEM67 CL E G H911471454Common atrioventricular canalC0221215ORPHA017428396609884
HP:0002896HP:0002896Neoplasm of the liver0TP53 CL E G H71571333Chromosome 19, ringCN036553ORPHA054111998191170
HP:0002896HP:0002896Neoplasm of the liver0TRIM28 CL E G H10155654Ampola syndromeORPHA0316384601742
HP:0002896HP:0002896Neoplasm of the liver0TRIP13 CL E G H9319654Ampola syndromeORPHA0212307604507
HP:0002896HP:0002896Neoplasm of the liver0WT1 CL E G H7490654Ampola syndromeORPHA018412796607102
HP:0002896HP:0002896Neoplasm of the liver1BRCA1 CL E G H6721333Chromosome 19, ringCN036553ORPHA028241100113705
HP:0002896HP:0002896Neoplasm of the liver1BRCA2 CL E G H675654Ampola syndromeORPHA030251101600185
HP:0002896HP:0002896Neoplasm of the liver1BRCA2 CL E G H6751333Chromosome 19, ringCN036553ORPHA030251101600185
HP:0002896HP:0002896Neoplasm of the liver1C11orf95 CL E G H65998251636ORPHA028449615699
HP:0002896HP:0002896Neoplasm of the liver1CC2D2A CL E G H575451454Common atrioventricular canalC0221215ORPHA09629253612013
HP:0002896HP:0002896Neoplasm of the liver1CDKN2A CL E G H10291333Chromosome 19, ringCN036553ORPHA02431787600160
HP:0002896HP:0002896Neoplasm of the liver1DIS3L2 CL E G H129563654Ampola syndromeORPHA01428648614184
HP:0002896HP:0002896Neoplasm of the liver1GPC3 CL E G H2719654Ampola syndromeORPHA0984451300037
HP:0002896HP:0002896Neoplasm of the liver1H19 CL E G H283120654Ampola syndromeORPHA0384713103280
HP:0002896HP:0002896Neoplasm of the liver1HBB CL E G H3043231214ORPHA08714827141900
HP:0002896HP:0002896Neoplasm of the liver1HBB CL E G H3043231222ORPHA08714827141900
HP:0002896HP:0002896Neoplasm of the liver1INPP5E CL E G H566231454Common atrioventricular canalC0221215ORPHA05421474613037
HP:0002896HP:0002896Neoplasm of the liver1KRAS CL E G H38451333Chromosome 19, ringCN036553ORPHA0456407190070
HP:0002896HP:0002896Neoplasm of the liver1MLH1 CL E G H4292587Al Gazali Sabrinathan Nair syndromeORPHA012037127120436
HP:0002896HP:0002896Neoplasm of the liver1MSH2 CL E G H4436587Al Gazali Sabrinathan Nair syndromeORPHA012647325609309
HP:0002896HP:0002896Neoplasm of the liver1MSH6 CL E G H2956587Al Gazali Sabrinathan Nair syndromeORPHA06027329600678
HP:0002896HP:0002896Neoplasm of the liver1PALB2 CL E G H797281333Chromosome 19, ringCN036553ORPHA041726144610355
HP:0002896HP:0002896Neoplasm of the liver1PALLD CL E G H230221333Chromosome 19, ringCN036553ORPHA0417068608092
HP:0002896HP:0002896Neoplasm of the liver1POU6F2 CL E G H11281654Ampola syndromeORPHA0421694609062
HP:0002896HP:0002896Neoplasm of the liver1RELA CL E G H5970251636ORPHA039955164014
HP:0002896HP:0002896Neoplasm of the liver1REST CL E G H5978654Ampola syndromeORPHA0179966600571
HP:0002896HP:0002896Neoplasm of the liver1RPGRIP1L CL E G H233221454Common atrioventricular canalC0221215ORPHA05129168610937
HP:0002896HP:0002896Neoplasm of the liver1SMAD4 CL E G H40891333Chromosome 19, ringCN036553ORPHA01476770600993
HP:0002896HP:0002896Neoplasm of the liver1TMEM67 CL E G H911471454Common atrioventricular canalC0221215ORPHA017428396609884
HP:0002896HP:0002896Neoplasm of the liver1TP53 CL E G H71571333Chromosome 19, ringCN036553ORPHA054111998191170
HP:0002896HP:0002896Neoplasm of the liver1TRIM28 CL E G H10155654Ampola syndromeORPHA0316384601742
HP:0002896HP:0002896Neoplasm of the liver1TRIP13 CL E G H9319654Ampola syndromeORPHA0212307604507
HP:0002896HP:0002896Neoplasm of the liver1WT1 CL E G H7490654Ampola syndromeORPHA018412796607102


Genes (74) :ABCB11 AHCY APC ATP7B AXIN1 BRCA1 BRCA2 C11ORF95 CASP8 CC2D2A CDKN1C CDKN2A CTNNB1 DIS3L2 EPCAM FAH FAN1 G6PC GPC3 GPC4 GPR35 H19 H19-ICR HBB HFE HMBS HNF1A IGF2 IGF2R IL12A IL12RB1 INPP5E IRF5 JAG1 KCNQ1 KCNQ1OT1 KRAS MET MLH1 MLH3 MMEL1 MSH2 MSH6 MST1 PALB2 PALLD PDGFRL PIK3CA PMS1 PMS2 POU2AF1 POU6F2 PRKAR1A RELA REST RPGRIP1L SERPINA1 SETBP1 SLC25A13 SLC37A4 SMAD4 SPIB SPRTN TCF4 TGFBR2 TJP2 TMEM67 TNFSF15 TNPO3 TP53 TRIM28 TRIP13 UROD WT1

Diseases (39) :1333 654 251636 1454 231214 231222 587 601847 88618 79665 261584 175100 114550 277900 130650 144 882 276700 232200 373 171 180860 465508 235200 79276 176000 142330 186 118450 1359 613490 798 269150 603471 232220 232240 616200 615878 176100
 

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