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 stapes (HP:0008628)

Parent Node:
Stapes ankylosis (HP:0000381)

..Starting node
..Congenital stapes ankylosis (HP:0007943)

Term ID:

7943

Name:

Congenital stapes ankylosis

Synonym:

Definition:

A form of stapes ankylosis with congenital onset.

Comments:

Reference:

HP:0007943

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0007943	HP:0007943	Congenital stapes ankylosis	0	NOG CL E G H	9241	7866	OMIM:184460	Stapes ankylosis with broad thumb and toes	HP:0040281 - Very frequent	22

Genes (1) :NOG

Diseases (1) :OMIM:184460

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