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
..Cholesterol gallstones (HP:0011980)

Term ID:

11980

Name:

Cholesterol gallstones

Synonym:

Definition:

Gallstones composed primarily of cholesterol, usually about 2-3 cm in length with an oval form and a yellow or green/brown color.

Comments:

Reference:

HP:0011980

Genes and Diseases:

Child Nodes:

Sister Nodes:

Pigment gallstones (HP:0011981)

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:0011980	HP:0011980	Cholesterol gallstones	0	ABCB4 CL E G H	5244	45	OMIM:600803	Gallbladder disease 1	.	111
HP:0011980	HP:0011980	Cholesterol gallstones	0	CYP7A1 CL E G H	1581	2651	ORPHA:209902	Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency	HP:0040281 - Very frequent	11

Genes (2) :ABCB4 CYP7A1

Diseases (2) :OMIM:600803 ORPHA:209902

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