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 (HP:0000370)

Parent Node:
Aplasia/Hypoplasia of the ear (HP:0008771)

Parent Node:
Morphological abnormality of the middle ear (HP:0008609)

..Starting node
..Aplasia/Hypoplasia of the middle ear (HP:0008773)

Term ID:

8773

Name:

Aplasia/Hypoplasia of the middle ear

Synonym:

Absent/small middle ear; Absent/underdeveloped middle ear; Hypoplastic/aplastic middle ear structures; Middle ear hypoplasia/aplasia

Definition:

Aplasia or developmental hypoplasia of all or part of the middle ear.

Comments:

Reference:

HP:0008773

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormality of the middle ear ossicles (HP:0004452)

Cholesteatoma (HP:0009797)

Persistent stapedial artery (HP:0011475)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0008773	HP:0008773	Aplasia/Hypoplasia of the middle ear	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.