ZFIN Human Disease: DOORS syndrome

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 the TBC1D24 gene on chromosome 16p13.3. (3)
References:	GARD:1685 MESH:C538204 OMIM:220500 ORDO:79500 UMLS_CUI:C0795927
Ontology:	Human Disease ( DOID:0111627 )

Relationships

is a type of:	autosomal recessive disease syndrome autosomal recessive disease syndrome Show first 5 Terms

OTHER DOORS syndrome PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
TBC1D24	tbc1d24	DOORS syndrome	220500

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None