FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
Help Close All Open All
General Information
Term asphyxiating thoracic dystrophy 4 ID (Ontology) DOID:0110088 (Human Disease)
Definition An asphyxiating thoracic dystrophy has_material_basis_in compound heterozygous mutation in the TTC21B gene on chromosome 2q24.
Also Known As "ATD4" ; "short-rib thoracic dysplasia 4 with or without polydactyly" ; "SRTD4"
Comment
Links to External Ontologies
DO.org
Annotations
Records annotated with this term OR any of its CHILD TERMS
No relevant records available
Records annotated with this exact term (annotations to child terms are NOT included)
No relevant records available
show Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
No relevant statements available
Spanning Tree (Parents/Children)
Only view relationship: 
autosomal genetic disease
 |__autosomal recessive disease______
bone development disease             |
 |__asphyxiating thoracic dystrophy__|
                                     asphyxiating thoracic dystrophy 4
Spanning Tree View Settings
Parents/Children
View Depth
Show hierarchy levels: for parents, for children
hide Relationships
Is a asphyxiating thoracic dystrophy
autosomal recessive disease
Part of
hide Synonyms & Secondary IDs
Synonyms
  • "ATD4" EXACT OMO:0003012
    "short-rib thoracic dysplasia 4 with or without polydactyly" EXACT
    "SRTD4" EXACT OMO:0003012
Secondary IDs
hide External Crossreferences & Linkouts
ICD10CM:Q77.2
MIM:613819