Cochlear malformation

Symptom Information:

Symptom ID: HPO:0008554
Synonyms:
Cochlea structural anomaly [Orphanet:13480]
Cochlear malformation [OMIM:Cochlear malformation]
Structural anomalies of inner ear/cochlea/vestible/semicircular canals [Orphanet:13480]
Quality:
Cross references:
HPO:0011380 "Morphological abnormality of the semicircular canal" [Orphanet:13480]
HPO:0000375 "Abnormality of cochlea" [Orphanet:13480]
Orphanet:13480 "Structural anomalies of inner ear/cochlea/vestible/semicircular canals" [Orphanet:13480]
OMIM: "Cochlear malformation" [OMIM:Cochlear malformation]
Is a (Direct Parents):
HPO         Abnormality of cochlea
Orphanet Abnormality of cochlea
Orphanet Hearing abnormality
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Abnormality of the ear(HPO:0000598)
          Abnormality of the inner ear(HPO:0000359)
             Morphological abnormality of the inner ear(HPO:0011390)
                Abnormality of cochlea(HPO:0000375)
                   Cochlear malformation(HPO:0008554)
MedDRA:
Database Frequency: 5 / 7739
Resource:

All diseases associated with this symptom:

BRANCHIOOTIC SYNDROME 1 (OMIM:602588)
BRANCHIOOTORENAL SYNDROME 1 (OMIM:113650)
DEAFNESS, X-LINKED 6 (OMIM:300914)
MELAS (Orphanet:550)
Pendred syndrome (Orphanet:705)