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Summary Literature (0)
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 Disease Ontology (on Monarch Initiative):
MONDO:0009964 - short-rib thoracic dysplasia 9 with or without polydactyly


Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): asphyxiating thoracic dystrophy (is_a)