Term Name: asphyxiating thoracic dystrophy 2
Synonyms: ATD2, short-rib thoracic dysplasia 2 with or without polydactyly, SRTD2
Definition: An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the IFT80 gene on chromosome 3q25.
Ontology: Human Disease [DOID:0110086]   ( DOID:0110086 )

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