short-rib thoracic dysplasia 7 with or without polydactyly

Summary

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

: wdr35

OMIM:

MIM:614091 - short-rib thoracic dysplasia 7 with or without polydactyly; srtd7

MIM:614091 - short-rib thoracic dysplasia 7 with or without polydactyly; srtd7

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), autosomal recessive disease (is_a)