Human Phenotype Ontology 
Grandparent Node:
expand
Morphological abnormality of the inner ear (HP:0011390)help
Parent Node:
expand
Abnormal cochlea morphology (HP:0000375)help
..Starting node
..expand
Enlarged cochlear aqueduct (HP:0011388)help
Term ID: 11388
Name: Enlarged cochlear aqueduct
Synonym: Dilated cochlear aqueduct
Definition: Increased size of the cochlear duct, i.e., of a duct that communicates between the perilymphatic space and the subarachnoid space, and transmits a vein from the cochlea to join the internal jugular.
Comments:
Reference: HP:0011388
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAplasia/Hypoplasia of the cochlea (HP:0011395) help
..expandCochlear degeneration (HP:0005102) help
..expandCochlear malformation (HP:0008554) 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:0011388HP:0011388Enlarged cochlear aqueduct0EYA1 CL E G H21383519ORPHA:107BOR syndromeHP:0040282 - Frequent135
HP:0011388HP:0011388Enlarged cochlear aqueduct0SIX1 CL E G H649510887ORPHA:107BOR syndromeHP:0040282 - Frequent50
HP:0011388HP:0011388Enlarged cochlear aqueduct0SIX5 CL E G H14791210891ORPHA:107BOR syndromeHP:0040282 - Frequent10


Genes (3) :EYA1 SIX1 SIX5

Diseases (1) :ORPHA:107
 

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