Term Name: short-rib thoracic dysplasia 7 with or without polydactyly
Synonyms: short rib-polydactyly syndrome type V, SRPS5, SRTD7
Definition: An asphyxiating thoracic dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the WDR35 gene on chromosome 2p21.1.
Ontology: Human Disease [DOID:0110090]   ( DOID:0110090 )

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