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 gallbladder (HP:0005264)

Parent Node:
Abnormal gallbladder physiology (HP:0012438)

..Starting node
..Gallbladder dysfunction (HP:0005609)

Term ID:

5609

Name:

Gallbladder dysfunction

Synonym:

Gallbladder dysfunction

Definition:

Comments:

Reference:

HP:0005609

Genes and Diseases:

Child Nodes:

Sister Nodes:

Cholecystitis (HP:0001082)

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:0005609	HP:0005609	Gallbladder dysfunction	0	ARSA CL E G H	410	713	OMIM:250100	Metachromatic leukodystrophy	.	253

Genes (1) :ARSA

Diseases (1) :OMIM:250100

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