FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
Help Close All Open All
General Information
Term DOORS syndrome ID (Ontology) DOID:0111627 (Human Disease)
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.
Also Known As "autosomal recessive deafness-onychodystrophy syndrome" ; "deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome" ; "deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome" (for all, see Synonyms field below)
Comment
Links to External Ontologies
DO.org
Annotations
Records annotated with this term OR any of its CHILD TERMS
Records annotated with this exact term (annotations to child terms are NOT included)
Data Class Field Records
Alleles (FBal)  HUMAN_DISEASE_INTERACTIONS       3
Human Disease Models (FBhh)  DOID       1
show Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
 Full annotation statements 
Relevant FlyBase reports
 Alleles Genes Human Disease Models
 DOORS syndrome       5      2      1
 ameliorates | DOORS syndrome       1       --       --
 for disease ribbon | DOORS syndrome       --       1       --
 model of | DOORS syndrome       4      1       --
Spanning Tree (Parents/Children)
Only view relationship: 
autosomal genetic disease
 |__autosomal recessive disease__
disease                          |
 |__syndrome_____________________|
                                 DOORS syndrome  8 rec.
Spanning Tree View Settings
Parents/Children
View Depth
Show hierarchy levels: for parents, for children
hide Relationships
Is a autosomal recessive disease
syndrome
Part of
hide Synonyms & Secondary IDs
Synonyms
  • "autosomal recessive deafness-onychodystrophy syndrome" EXACT
    "deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome" EXACT
    "deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome" EXACT
    "deafness-onychoosteodystrophy-intellectual disability syndrome" EXACT
    "DOOR syndrome" EXACT
    "DOORS" EXACT OMO:0003012
Secondary IDs
hide External Crossreferences & Linkouts
GARD:1685
MESH:C538204
MIM:220500
ORDO:79500
UMLS_CUI:C0795927