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
..Abnormal liver parenchyma morphology (HP:0030146)

Term ID:

30146

Name:

Abnormal liver parenchyma morphology

Synonym:

Definition:

A structural anomaly of the liver located predominantly in the hepatocytes as opposed to stromal cells.

Comments:

Reference:

HP:0030146

Genes and Diseases:

Child Nodes:

........

Abnormal liver lobulation (HP:0100752)

Sister Nodes:

Abnormal hepatic glycogen storage (HP:0500030)

Abnormal hepatic iron concentration (HP:0040134)

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)

Nodular regenerative hyperplasia of liver (HP:0011954)

Storage in hepatocytes (HP:0031137)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	Source	Typical association	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0030146	HP:0030146	Abnormal liver parenchyma morphology	0	NPHP3 CL E G H	27031	3032	ORPHA	1	1106	7907	608002
HP:0030146	HP:0033193	Ballooning hepatocyte degeneration	1	NPHP3 CL E G H	27031	3032	ORPHA	1	1106	7907	608002
HP:0030146	HP:0100752	Abnormal liver lobulation	1	NPHP3 CL E G H	27031	3032	ORPHA	1	1106	7907	608002
HP:0030146	HP:0032221	Periportal emperipolesis	1	NPHP3 CL E G H	27031	3032	ORPHA	1	1106	7907	608002
HP:0030146	HP:0032021	Eosinophilic liver infiltration	1	NPHP3 CL E G H	27031	3032	ORPHA	1	1106	7907	608002
HP:0030146	HP:0033197	Hepatic lobular inflammation	1	NPHP3 CL E G H	27031	3032	ORPHA	1	1106	7907	608002
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0030146	HP:0030146	Abnormal liver parenchyma morphology	0	BTNL2 CL E G H	56244	797	ORPHA	0	30	1142	606000
HP:0030146	HP:0030146	Abnormal liver parenchyma morphology	0	HLA-DRB1 CL E G H	3123	797	ORPHA	0	41	4948	142857
HP:0030146	HP:0033193	Ballooning hepatocyte degeneration	1	BTNL2 CL E G H	56244	797	ORPHA	0	30	1142	606000
HP:0030146	HP:0100752	Abnormal liver lobulation	1	BTNL2 CL E G H	56244	797	ORPHA	0	30	1142	606000
HP:0030146	HP:0032021	Eosinophilic liver infiltration	1	BTNL2 CL E G H	56244	797	ORPHA	0	30	1142	606000
HP:0030146	HP:0032221	Periportal emperipolesis	1	BTNL2 CL E G H	56244	797	ORPHA	0	30	1142	606000
HP:0030146	HP:0033197	Hepatic lobular inflammation	1	BTNL2 CL E G H	56244	797	ORPHA	0	30	1142	606000
HP:0030146	HP:0032021	Eosinophilic liver infiltration	1	HLA-DRB1 CL E G H	3123	797	ORPHA	0	41	4948	142857
HP:0030146	HP:0032221	Periportal emperipolesis	1	HLA-DRB1 CL E G H	3123	797	ORPHA	0	41	4948	142857
HP:0030146	HP:0033197	Hepatic lobular inflammation	1	HLA-DRB1 CL E G H	3123	797	ORPHA	0	41	4948	142857
HP:0030146	HP:0033193	Ballooning hepatocyte degeneration	1	HLA-DRB1 CL E G H	3123	797	ORPHA	0	41	4948	142857
HP:0030146	HP:0100752	Abnormal liver lobulation	1	HLA-DRB1 CL E G H	3123	797	ORPHA	0	41	4948	142857

Genes (4) :BMPER BTNL2 HLA-DRB1 NPHP3

Diseases (3) :797 3032 608022

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

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