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
..Nodular regenerative hyperplasia of liver (HP:0011954)

Term ID:

11954

Name:

Nodular regenerative hyperplasia of liver

Synonym:

Nodular transformation of liver; Noncirrhotic nodulation; Partial nodular transformation of liver

Definition:

Diffuse benign transformation of the hepatic parenchyma into small regenerative nodules with minimal or no fibrosis.

Comments:

Reference:

HP:0011954

Genes and Diseases:

Child Nodes:

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)

Hepatic necrosis (HP:0002605)

Hepatitis (HP:0012115)

Hepatomegaly (HP:0002240)

Hepatosplenomegaly (HP:0001433)

Liver abscess (HP:0100523)

Storage in hepatocytes (HP:0031137)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0011954	HP:0011954	Nodular regenerative hyperplasia of liver	0	GIMAP5 CL E G H	55340	18005	OMIM:619463	PORTAL HYPERTENSION, NONCIRRHOTIC, 2; NCPH2
HP:0011954	HP:0011954	Nodular regenerative hyperplasia of liver	0	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome	HP:0040283 - Occasional	32
HP:0011954	HP:0011954	Nodular regenerative hyperplasia of liver	0	SASH3 CL E G H	54440	15975	OMIM:301082			1
HP:0011954	HP:0011954	Nodular regenerative hyperplasia of liver	0	TREX1 CL E G H	11277	12269	ORPHA:247691	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations	HP:0040282 - Frequent	56

Genes (4) :GIMAP5 NGLY1 SASH3 TREX1

Diseases (4) :OMIM:619463 ORPHA:404454 OMIM:301082 ORPHA:247691

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