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:
Abnormal liver morphology (HP:0410042)

Parent Node:
Cirrhosis (HP:0001394)

..Starting node
..Macronodular cirrhosis (HP:0006577)

Term ID:

6577

Name:

Macronodular cirrhosis

Synonym:

Definition:

A type of cirrhosis characterized by the presence of large regenerative nodules.

Comments:

Reference:

HP:0006577

Genes and Diseases:

Child Nodes:

Sister Nodes:

Micronodular cirrhosis (HP:0001413)

Mixed cirrhosis (HP:0011005)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0006577	HP:0006577	Macronodular cirrhosis	0	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0006577	HP:0006577	Macronodular cirrhosis	0	YARS1 CL E G H	8565	12840	OMIM:619418	NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2

Genes (2) :PRIM1 YARS1

Diseases (2) :OMIM:620005 OMIM:619418

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