Human Phenotype Ontology 
Grandparent Node:
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Morphological abnormality of the vestibule of the inner ear (HP:0011376)help
Parent Node:
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Morphological abnormality of the semicircular canal (HP:0011380)help
..Starting node
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Hypoplasia of the semicircular canal (HP:0011382)help
Term ID: 11382
Name: Hypoplasia of the semicircular canal
Synonym: Hypoplasia of the semicircular canals; Small semicircular canal
Definition: Underdevelopment of the semicircular canal.
Comments:
Reference: HP:0011382
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAplasia of the semicircular canal (HP:0011381) help
..expandEnlarged semicircular canal (HP:0011383) help
..expandMorphological abnormality of the anterior semicircular canal (HP:0040108) help
..expandMorphological abnormality of the lateral semicircular canal (HP:0040106) help
..expandMorphological abnormality of the posterior semicircular canal (HP:0040107) help
..expandMorphological abnormality of the saccule (HP:0040110) help
..expandMorphological abnormality of the utricle (HP:0040109) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0011382HP:0011382Hypoplasia of the semicircular canal0CHD7 CL E G H5563620626ORPHA:138CHARGE syndromeHP:0040281 - Very frequent515
HP:0011382HP:0011382Hypoplasia of the semicircular canal0SEMA3E CL E G H972310727ORPHA:138CHARGE syndromeHP:0040281 - Very frequent16
HP:0011382HP:0011382Hypoplasia of the semicircular canal0SOX10 CL E G H666311190OMIM:609136Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease.61
HP:0011382HP:0011382Hypoplasia of the semicircular canal0SOX10 CL E G H666311190OMIM:611584Waardenburg syndrome, type 2E.61


Genes (3) :CHD7 SEMA3E SOX10

Diseases (3) :ORPHA:138 OMIM:609136 OMIM:611584
 

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