Search Ontology:
Human Disease

DOORS syndrome

Term ID
DOID:0111627
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. (3)
References
Ontology
Human Disease   ( DOID:0111627 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models