Details of Disease

General Information of Disease (ID: DISIT57H)

Disease Name X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome
Synonyms deafness, X-linked 7, X-linked recessive; DFNX7; deafness, X-linked 7
Disease Hierarchy
DISUEW2W: Hereditary otorhinolaryngologic disease
DISQHIDS: X-linked deafness
DIS7GG31: Developmental defect during embryogenesis
DISIT57H: X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome
Disease Identifiers
MONDO ID
MONDO_0044702
UMLS CUI
C4746975
OMIM ID
301018
MedGen ID
1648389
Orphanet ID
500188

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
GPRASP2 OT2N7NQR Supportive X-linked [1]
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References

1 GPRASP2, a novel causative gene mutated in an X-linked recessive syndromic hearing loss. J Med Genet. 2017 Jun;54(6):426-430. doi: 10.1136/jmedgenet-2016-104320. Epub 2017 Jan 17.