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 middle ear ossicles (HP:0004452)

Parent Node:
Abnormality of the stapes (HP:0008628)

..Starting node
..Absent stapes (HP:0011456)

Term ID:

11456

Name:

Absent stapes

Synonym:

Definition:

Aplasia of the stapes.

Comments:

Reference:

HP:0011456

Genes and Diseases:

Child Nodes:

Sister Nodes:

Absent stapes head (HP:0200111)

Otosclerosis (HP:0000362)

Stapes ankylosis (HP:0000381)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0011456	HP:0011456	Absent stapes	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.