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:
Abnormal cochlea morphology (HP:0000375)

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

Parent Node:
Aplasia/Hypoplasia of the cochlea (HP:0011395)

..Starting node
..Cochlear aplasia (HP:0011375)

Term ID:

11375

Name:

Cochlear aplasia

Synonym:

Absent cochlea

Definition:

Absence of the cochlea, a spiral shaped cavity in the inner ear, owing to a developmental defect.

Comments:

Reference:

HP:0011375

Genes and Diseases:

Child Nodes:

Sister Nodes:

Hypoplasia of the cochlea (HP:0008586)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0011375	HP:0011375	Cochlear aplasia	0	GREB1L CL E G H	80000	31042	OMIM:619274	DEAFNESS, AUTOSOMAL DOMINANT 80; DFNA80

Genes (1) :GREB1L

Diseases (1) :OMIM:619274

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