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DOID:0110097 - short-rib thoracic dysplasia 9 with or without polydactyly
Disease Ontology Definition:An asphyxiating thoracic dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the IFT140 gene on chromosome 16p13.
Synonyms: SRTD9, renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia,
Xenbase Genes : ift140
MONDO:0009964 - short-rib thoracic dysplasia 9 with or without polydactyly |
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee