Human Phenotype Ontology 
Grandparent Node:
expandCochlear malformation (HP:0008554)help
Parent Node:
expandIncomplete partition of the cochlea (HP:0011373)help
..Starting node
..expandIncomplete partition of the cochlea type II (HP:0000376)help
Term ID: 376
Name: Incomplete partition of the cochlea type II
Synonym: Cochlear malformation defect (Mondini dysplasia); Mondini defect; Mondini dysplasia; Mondini malformation
Definition: With incomplete partition II, the cochlea consists of 1.5 turns; the apical and middle cochlea turns are undifferentiated and form a cystic apex. The vestibule is normal while the vestibular aqueduct is always enlarged. Developmental arrest occurs at the seventh week of gestation.
Comments:
Reference: HP:0000376
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandIncomplete partition of the cochlea type I (HP:0011374) 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:0000376HP:0000376Incomplete partition of the cochlea type II0EYA1 CL E G H21383519OMIM:113650Branchiootorenal syndrome 1.135
HP:0000376HP:0000376Incomplete partition of the cochlea type II0HAAO CL E G H234984796OMIM:617660Vertebral, cardiac, renal, and limb defects syndrome 12
HP:0000376HP:0000376Incomplete partition of the cochlea type II0ORC1 CL E G H49988487OMIM:224690Meier-Gorlin syndrome 1.53
HP:0000376HP:0000376Incomplete partition of the cochlea type II0SIX1 CL E G H649510887OMIM:113650Branchiootorenal syndrome 1.50


Genes (4) :EYA1 HAAO ORC1 SIX1

Diseases (3) :OMIM:113650 OMIM:617660 OMIM:224690
 

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