short-rib thoracic dysplasia 11 with or without polydactyly

Summary

DOID:0110095 - short-rib thoracic dysplasia 11 with or without polydactyly

Disease Ontology Definition:An asphyxiating thoracic dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the WDR34 gene on chromosome 9q34.

Synonyms: SRTD11

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

: dync2i2

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0014287 - short-rib thoracic dysplasia 11 with or without polydactyly

MONDO:0014287 - short-rib thoracic dysplasia 11 with or without polydactyly

MIM:

MIM:615633 - SHORT-RIB THORACIC DYSPLASIA 11 WITH OR WITHOUT POLYDACTYLY; SRTD11

MIM:615633 - SHORT-RIB THORACIC DYSPLASIA 11 WITH OR WITHOUT POLYDACTYLY; SRTD11

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)