Term Name: asphyxiating thoracic dystrophy 4
Synonyms: ATD4, short-rib thoracic dysplasia 4 with or without polydactyly, SRTD4
Definition: An asphyxiating thoracic dystrophy has_material_basis_in compound heterozygous mutation in the TTC21B gene on chromosome 2q24.
Ontology: Human Disease [DOID:0110088]   ( DOID:0110088 )

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