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

Parent Node:
Morphological abnormality of the vestibule of the inner ear (HP:0011376)

..Starting node
..Dilated vestibule of the inner ear (HP:0011379)

Term ID:

11379

Name:

Dilated vestibule of the inner ear

Synonym:

Definition:

Dilatation of the vestibule of the inner ear.

Comments:

Reference:

HP:0011379

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal vestibular saccule morphology (HP:0030999)

Aplasia of the vestibule (HP:0011377)

Enlarged vestibular aqueduct (HP:0011387)

Hypoplasia of the vestibule of the inner ear (HP:0011378)

Morphological abnormality of the semicircular canal (HP:0011380)

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:0011379	HP:0011379	Dilated vestibule of the inner ear	0	GREB1L CL E G H	80000	31042	OMIM:619274	DEAFNESS, AUTOSOMAL DOMINANT 80; DFNA80
HP:0011379	HP:0011379	Dilated vestibule of the inner ear	0	SOX10 CL E G H	6663	11190	OMIM:611584	Waardenburg syndrome, type 2E	.	61

Genes (2) :GREB1L SOX10

Diseases (2) :OMIM:619274 OMIM:611584

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