short-rib thoracic dysplasia 9 with or without polydactyly

Summary

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: renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia, SRTD9

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: ift140

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0009964 - short-rib thoracic dysplasia 9 with or without polydactyly

MONDO:0009964 - short-rib thoracic dysplasia 9 with or without polydactyly

MIM:

MIM:266920 - SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY; SRTD9

MIM:266920 - SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY; SRTD9

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), autosomal recessive disease (is_a)