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DOID:0110090 - short-rib thoracic dysplasia 7 with or without polydactyly
Disease Ontology Definition:An asphyxiating thoracic dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the WDR35 gene on chromosome 2p21.1.
Synonyms: SRPS5, SRTD7, short rib-polydactyly syndrom type V, short rib-polydactyly syndrome type V,
Echinobase Genes : wdr35
MIM:614091 - short-rib thoracic dysplasia 7 with or without polydactyly; srtd7 |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee