Term Name: asphyxiating thoracic dystrophy 1
Synonyms: ATD1, short-rib thoracic dysplasia 1 with or without polydactyly, SRTD1
Definition: An asphyxiating thoracic dystrophy associated with variation in the region 15q13.
Ontology: Human Disease [DOID:0110085]   ( DOID:0110085 )

Relationships
is a type of: asphyxiating thoracic dystrophy autosomal recessive disease