WormBase Tree Display for DO_term: DOID:0111627
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| DOID:0111627 | Name | DOORS syndrome | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| 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. | ||||
| Synonym | Exact | DOOR syndrome | |||
| DOORS | |||||
| autosomal recessive deafness-onychodystrophy syndrome | |||||
| deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome | |||||
| deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome | |||||
| deafness-onychoosteodystrophy-intellectual disability syndrome | |||||
| Parent | Is_a | DOID:225 | |||
| DOID:0050737 | |||||
| DB_info | Database | OMIM | disease | 220500 | |
| Attribute_of | Gene_by_orthology | WBGene00016292 |
