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

Grandparent Node:
Morphological abnormality of the inner ear (HP:0011390)

Parent Node:
Aplasia/Hypoplasia of the inner ear (HP:0008774)

..Starting node
..Aplasia of the inner ear (HP:0011372)

Term ID:

11372

Name:

Aplasia of the inner ear

Synonym:

Absent inner ear; Aplasia of the labyrinth; Labyrinthine aplasia; Michel deformity

Definition:

Absence of the inner ear due to a developmental defect.

Comments:

Reference:

HP:0011372

Genes and Diseases:

Child Nodes:

Sister Nodes:

Aplasia/Hypoplasia of the cochlea (HP:0011395)

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:0011372	HP:0011372	Aplasia of the inner ear	0	FGF3 CL E G H	2248	3681	ORPHA:90024	Deafness with labyrinthine aplasia, microtia, and microdontia	HP:0040281 - Very frequent	18
HP:0011372	HP:0011372	Aplasia of the inner ear	0	FGF3 CL E G H	2248	3681	OMIM:610706	Deafness, congenital, with inner ear agenesis, microtia, and microdontia	.	18

Genes (1) :FGF3

Diseases (2) :ORPHA:90024 OMIM:610706

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