Click here to close Hello! We notice that you are using Internet Explorer, which is not supported by Echinobase and may cause the site to display incorrectly. We suggest using a current version of Chrome, FireFox, or Safari.
Echinobase
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,

Echinobase Genes : ift140


OMIM:
MIM:266920 - short-rib thoracic dysplasia 9 with or without polydactyly; srtd9

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)