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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 TBC1D24 on chromosome 16p13.3.

Synonyms: 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

In OMIM:
OMIM:220500 - DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, MENTAL RETARDATION, AND SEIZURES SYNDROME; DOORS


Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Xenbase Genes : tbc1d24.1, tbc1d24.2

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): autosomal recessive disease (is_a), syndrome (is_a)