short-rib thoracic dysplasia 14 with polydactyly

Summary

DOID:0110096 - short-rib thoracic dysplasia 14 with polydactyly

Disease Ontology Definition:An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the KIAA0586 gene on chromosome 14q23.

Synonyms: SRTD14

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

: KIAA0586

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0014688 - short-rib thoracic dysplasia 14 with polydactyly

MONDO:0014688 - short-rib thoracic dysplasia 14 with polydactyly

MIM:

MIM:616546 - SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY; SRTD14

MIM:616546 - SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY; SRTD14

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)