Search Ontology:
Human Disease
X-linked deafness 7
- Term ID
- DOID:0111738
- Synonyms
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- DFNX7
- X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome
- Definition
- An X-linked nonsyndromic deafness characterized by congenital, bilateral, mixed or conductive hearing loss and other ear anomalies that has_material_basis_in homozygous or hemizygous mutation in the GPRASP2 gene on chromosome Xq22.1. https://www.ncbi.nlm.nih.gov/pubmed/28096187
- References
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- MIM:301018
- ORDO:500188
- Ontology
- Human Disease ( DOID:0111738 )
- is a type of
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Other Pages
Genes Involved
Zebrafish Models