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 gallbladder morphology (HP:0012437)

Parent Node:
Cholelithiasis (HP:0001081)

..Starting node
..Pigment gallstones (HP:0011981)

Term ID:

11981

Name:

Pigment gallstones

Synonym:

Definition:

Gallstones composed primarily of bilirubin and calcium salts (calcium bilirubinate) with a low cholesterol concentration.

Comments:

Reference:

HP:0011981

Genes and Diseases:

Child Nodes:

........

Black pigment gallstones (HP:0011982)

........

Brown pigment gallstones (HP:0011983)

Sister Nodes:

Cholesterol gallstones (HP:0011980)

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:0011981	HP:0011981	Pigment gallstones	0	GPI CL E G H	2821	4458	OMIM:613470	Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerasedeficiency	.	12
HP:0011981	HP:0011981	Pigment gallstones	0	HBB CL E G H	3043	4827	ORPHA:232	Sickle cell anemia	HP:0040282 - Frequent	580
HP:0011981	HP:0011983	Brown pigment gallstones	1	CL E G H
HP:0011981	HP:0011982	Black pigment gallstones	1	CL E G H

Genes (2) :GPI HBB

Diseases (2) :OMIM:613470 ORPHA:232

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