Summary Literature (0)

DOID:0111627 - DOORS syndrome

Disease Ontology 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.

Synonyms: autosomal recessive deafness-onychodystrophy syndrome, deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome, deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome, deafness-onychoosteodystrophy-intellectual disability syndrome, DOORS, DOOR syndrome

Xenbase Genes : tbc1d24, tbc1d24.2



Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee