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:
Cholelithiasis (HP:0001081)

Parent Node:
Pigment gallstones (HP:0011981)

..Starting node
..Black pigment gallstones (HP:0011982)

Term ID:

11982

Name:

Black pigment gallstones

Synonym:

Definition:

A type of pigment gallstone that is hard and black, containing calcium carbonate and calcium phosphates.

Comments:

Reference:

HP:0011982

Genes and Diseases:

Child Nodes:

Sister Nodes:

Brown pigment gallstones (HP:0011983)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0011982	HP:0011982	Black pigment gallstones	0	CL E G H

Genes (0) :

Diseases (0) :

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