Human genes for short-rib thoracic dysplasia 13 with or without polydactyly
Short-rib thoracic dysplasia 13 with or without polydactyly [DOID:0110093]
An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the CEP120 gene on chromosome 5q23.
Synonyms: short-rib thoracic dysplasia 13 with or without polydactyly, DOID:0110093, shortrib thoracic dysplasia 13 with or without polydactyly, SRTD13