short-rib thoracic dysplasia 8 with or without polydactyly

Summary

DOID:0110094 - short-rib thoracic dysplasia 8 with or without polydactyly

Disease Ontology Definition:An asphyxiating thoracic dystrophy that has_material_basis_in compound heterozygous mutation in the WDR60 gene on chromosome 7q36.

Synonyms: short rib-polydactyly syndrome type VI, SRPS6, SRTD8

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

: dync2i1

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0014214 - short-rib thoracic dysplasia 8 with or without polydactyly

MONDO:0014214 - short-rib thoracic dysplasia 8 with or without polydactyly

MIM:

MIM:615503 - SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY; SRTD8

MIM:615503 - SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY; SRTD8

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)