| Metadata | |
|---|---|
| ID | DOID:0111627 |
| Name | DOORS syndrome |
| 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. https://ghr.nlm.nih.gov/condition/doors-syndrome, https://www.ncbi.nlm.nih.gov/pubmed/1132883, https://www.ncbi.nlm.nih.gov/pubmed/24291220 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
autosomal recessive deafness-onychodystrophy syndrome [EXACT] deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome [EXACT] deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome [EXACT] deafness-onychoosteodystrophy-intellectual disability syndrome [EXACT] DOOR syndrome [EXACT] DOORS [EXACT] |
| Parent Relationships |
is_a syndrome |