Term Name: | DOORS syndrome |
---|---|
Synonyms: | autosomal recessive deafness-onychodystrophy syndrome, deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome, deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome, deafness-onychoosteodystrophy-intellectual disability syndrome, DOOR syndrome, DOORS |
Definition: | A syndrome characterized by sensorineural deafness, onychodystrophy, osteodystrophy, seizures, and intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in the TBC1D24 gene on chromosome 16p13.3. |
Ontology: | Human Disease [DOID:0111627] ( DOID:0111627 ) |