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 vestibule of the inner ear (HP:0011376)

Parent Node:
Morphological abnormality of the semicircular canal (HP:0011380)

..Starting node
..Enlarged semicircular canal (HP:0011383)

Term ID:

11383

Name:

Enlarged semicircular canal

Synonym:

Dilated semicircular canal

Definition:

Increased size of the semicircular canal.

Comments:

Reference:

HP:0011383

Genes and Diseases:

Child Nodes:

Sister Nodes:

Aplasia of the semicircular canal (HP:0011381)

Hypoplasia of the semicircular canal (HP:0011382)

Morphological abnormality of the anterior semicircular canal (HP:0040108)

Morphological abnormality of the lateral semicircular canal (HP:0040106)

Morphological abnormality of the posterior semicircular canal (HP:0040107)

Morphological abnormality of the saccule (HP:0040110)

Morphological abnormality of the utricle (HP:0040109)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0011383	HP:0011383	Enlarged semicircular canal	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.