disease has basis in dysfunction of CEP120 short-rib thoracic dysplasia 13 with or without polydactyly An asphyxiating thoracic dystrophy that has material basis in homozygous mutation in the CEP120 gene on chromosome 5q23. DOID:0110093 ICD10:Q77.2 MONDO:0014577 OMIM:616300 SRTD13 UMLS:C4225378 short-rib thoracic dysplasia 13 with or without polydactyly Jeune syndrome