Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormality of the liver (HP:0001392)

Parent Node:
Abnormal liver morphology (HP:0410042)

..Starting node
..Hepatic necrosis (HP:0002605)

Term ID:

2605

Name:

Hepatic necrosis

Synonym:

Definition:

The presence of cell death (necrosis) affecting the liver.

Comments:

Reference:

HP:0002605

Genes and Diseases:

Child Nodes:

........

Hepatocellular necrosis (HP:0001404)

........

Hepatic periportal necrosis (HP:0002614)

Sister Nodes:

Abnormal hepatic glycogen storage (HP:0500030)

Abnormal hepatic iron concentration (HP:0040134)

Abnormal liver parenchyma morphology (HP:0030146)

Abnormality of the hepatic vasculature (HP:0006707)

Cirrhosis (HP:0001394)

Cystic liver disease (HP:0006706)

Decreased carnitine level in liver (HP:0045061)

Degenerative liver disease (HP:0005237)

Depletion of mitochondrial DNA in liver (HP:0006581)

Ectopic liver (HP:0030722)

Elevated hepatic transaminase (HP:0002910)

Hepatic agenesis (HP:0100839)

Hepatic amyloidosis (HP:0012280)

Hepatic calcification (HP:0006559)

Hepatic fibrosis (HP:0001395)

Hepatic granulomatosis (HP:0011955)

Hepatitis (HP:0012115)

Hepatomegaly (HP:0002240)

Hepatosplenomegaly (HP:0001433)

Liver abscess (HP:0100523)

Nodular regenerative hyperplasia of liver (HP:0011954)

Storage in hepatocytes (HP:0031137)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0002605	HP:0002605	Hepatic necrosis	0	CTNNB1 CL E G H	1499	33402				ORPHA	1	624	2514	116806
HP:0002605	HP:0002605	Hepatic necrosis	0	HADH CL E G H	3033	231530	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	231530	C1291230	OMIM	1	229	4799	601609
HP:0002605	HP:0002605	Hepatic necrosis	0	MET CL E G H	4233	33402				ORPHA	1	3184	7029	164860
HP:0002605	HP:0001404	Hepatocellular necrosis	1	CTNNB1 CL E G H	1499	33402				ORPHA	1	624	2514	116806
HP:0002605	HP:0002614	Hepatic periportal necrosis	1	CTNNB1 CL E G H	1499	33402				ORPHA	1	624	2514	116806
HP:0002605	HP:0002614	Hepatic periportal necrosis	1	HADH CL E G H	3033	231530	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	231530	C1291230	OMIM	1	229	4799	601609
HP:0002605	HP:0001404	Hepatocellular necrosis	1	HADH CL E G H	3033	231530	Deficiency of 3-hydroxyacyl-CoA dehydrogenase	231530	C1291230	OMIM	1	229	4799	601609
HP:0002605	HP:0001404	Hepatocellular necrosis	1	MET CL E G H	4233	33402				ORPHA	1	3184	7029	164860
HP:0002605	HP:0002614	Hepatic periportal necrosis	1	MET CL E G H	4233	33402				ORPHA	1	3184	7029	164860
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002605	HP:0002605	Hepatic necrosis	0	HADH CL E G H	3033	71212				ORPHA	0	229	4799	601609
HP:0002605	HP:0002605	Hepatic necrosis	0	SDHD CL E G H	6392	100093				ORPHA	0	686	10683	602690
HP:0002605	HP:0001404	Hepatocellular necrosis	1	HADH CL E G H	3033	71212				ORPHA	0	229	4799	601609
HP:0002605	HP:0002614	Hepatic periportal necrosis	1	HADH CL E G H	3033	71212				ORPHA	0	229	4799	601609
HP:0002605	HP:0002614	Hepatic periportal necrosis	1	SDHD CL E G H	6392	100093				ORPHA	0	686	10683	602690
HP:0002605	HP:0001404	Hepatocellular necrosis	1	SDHD CL E G H	6392	100093				ORPHA	0	686	10683	602690

Genes (15) :ACADL ACADVL BCS1L COX10 COX15 CTNNB1 DGUOK ETFA ETFB ETFDH HADH MET SDHA SDHD SURF1

Diseases (9) :33402 71212 231530 100093 99900 201475 256000 251880 231680

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

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