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
..Enlarged vestibular aqueduct (HP:0011387)

Term ID:

11387

Name:

Enlarged vestibular aqueduct

Synonym:

Dilated vestibular aqueduct; Widened vestibular aqueduct

Definition:

Increased size of the vestibular aqueduct.

Comments:

Reference:

HP:0011387

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal vestibular saccule morphology (HP:0030999)

Aplasia of the vestibule (HP:0011377)

Dilated vestibule of the inner ear (HP:0011379)

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:0011387	HP:0011387	Enlarged vestibular aqueduct	0	EYA1 CL E G H	2138	3519	OMIM:113650	Branchiootorenal syndrome 1		135
HP:0011387	HP:0011387	Enlarged vestibular aqueduct	0	FOXI1 CL E G H	2299	3815	OMIM:600791	Enlarged vestibular aqueduct	.	33
HP:0011387	HP:0011387	Enlarged vestibular aqueduct	0	FOXI1 CL E G H	2299	3815	ORPHA:705	Pendred syndrome	HP:0040281 - Very frequent	33
HP:0011387	HP:0011387	Enlarged vestibular aqueduct	0	HRAS CL E G H	3265	5173	ORPHA:79414	Woolly hair nevus		113
HP:0011387	HP:0011387	Enlarged vestibular aqueduct	0	KCNJ10 CL E G H	3766	6256	OMIM:600791	Enlarged vestibular aqueduct	.	121
HP:0011387	HP:0011387	Enlarged vestibular aqueduct	0	KCNJ10 CL E G H	3766	6256	ORPHA:705	Pendred syndrome	HP:0040281 - Very frequent	121
HP:0011387	HP:0011387	Enlarged vestibular aqueduct	0	MAP3K7 CL E G H	6885	6859	OMIM:157800	Cardiospondylocarpofacial syndrome		11
HP:0011387	HP:0011387	Enlarged vestibular aqueduct	0	SIX1 CL E G H	6495	10887	OMIM:113650	Branchiootorenal syndrome 1		50
HP:0011387	HP:0011387	Enlarged vestibular aqueduct	0	SLC26A4 CL E G H	5172	8818	OMIM:600791	Enlarged vestibular aqueduct	.	274
HP:0011387	HP:0011387	Enlarged vestibular aqueduct	0	SLC26A4 CL E G H	5172	8818	ORPHA:705	Pendred syndrome	HP:0040281 - Very frequent	274

Genes (7) :EYA1 FOXI1 HRAS KCNJ10 MAP3K7 SIX1 SLC26A4

Diseases (5) :OMIM:113650 OMIM:600791 ORPHA:705 ORPHA:79414 OMIM:157800

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