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

• GARD:1685
• MESH:C538204
• OMIM:220500
• ORDO:79500
• UMLS_CUI:C0795927

Ontology

Human Disease   ( DOID:0111627 )