Term Name: asphyxiating thoracic dystrophy 5
Synonyms: ATD5, short-rib thoracic dysplasia 5 with or without polydactyly, SRTD5
Definition: An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the WDR19 gene on chromosome 4p14.
Ontology: Human Disease [DOID:0110089]   ( DOID:0110089 )

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