Term Name: short-rib thoracic dysplasia 8 with or without polydactyly
Synonyms: short rib-polydactyly syndrome type VI, SRPS6, SRTD8
Definition: An asphyxiating thoracic dystrophy that has_material_basis_in compound heterozygous mutation in the WDR60 gene on chromosome 7q36.
Ontology: Human Disease [DOID:0110094]   ( DOID:0110094 )

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