Human genes for asphyxiating thoracic dystrophy 5
Asphyxiating thoracic dystrophy 5 [DOID:0110089]
An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the WDR19 gene on chromosome 4p14.
Synonyms: asphyxiating thoracic dystrophy 5, DOID:0110089, ATD5, short-rib thoracic dysplasia 5 with or without polydactyly, SRTD5 ...