short-rib thoracic dysplasia 8 with or without polydactyly (DOID:0110094)
Alliance: disease page
Synonyms: short rib-polydactyly syndrome type VI; SRPS6; SRTD8
Alt IDs: OMIM:615503, ICD10CM:Q77.2
Definition: An asphyxiating thoracic dystrophy that has_material_basis_in compound heterozygous mutation in the WDR60 gene on chromosome 7q36.