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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 syndrome, DOORS, deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome, deafness-onychoosteodystrophy-intellectual disability syndrome, DOOR syndrome
Xenbase Genes
:
tbc1d24,
tbc1d24.2
| MIM:220500 - DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; DOORS |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view
Parent(s):
autosomal recessive disease (is_a),
syndrome (is_a)