asphyxiating thoracic dystrophy 1
MONDO:0008831Mondo
Findings
No curated finding names asphyxiating thoracic dystrophy 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An asphyxiating thoracic dystrophy associated with variation in the region 15q13.
Definition from the Mondo Disease Ontology (MONDO:0008831), read 2026-09-29. CC BY 4.0.
Features
1 feature
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Lateral clavicle hookHPOHP:0000895
Where it sits
- A kind of
Other names
4 names
Resolves to: asphyxiating thoracic dystrophy 1
- Also called
- asphyxiating thoracic dystrophy type 1ATD1short-rib thoracic dysplasia 1 with or without polydactylySRTD1