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DOID:0110093 - short-rib thoracic dysplasia 13 with or without polydactyly
Disease Ontology Definition:An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the CEP120 gene on chromosome 5q23.
Synonyms: SRTD13,
Echinobase Genes :
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
asphyxiating thoracic dystrophy (is_a)