OBO ID: DOID:0111627
Term Name: DOORS syndrome Search Ontology:
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 TBC1D24 on chromosome 16p13.3. (3)
References:
Ontology: Human Disease   (DOID:0111627)
OTHER DOORS syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
TBC1D24 DOORS syndrome 220500
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None