asphyxiating thoracic dystrophy 5

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Echinobase

Summary

Literature (0)

DOID:0110089 - asphyxiating thoracic dystrophy 5

Disease Ontology Definition:An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the WDR19 gene on chromosome 4p14.

Synonyms: ATD5, SRTD5, short-rib thoracic dysplasia 5 with or without polydactyly

Echinobase 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

: wdr19

MIM:

MIM:614376 - short-rib thoracic dysplasia 5 with or without polydactyly; srtd5

MIM:614376 - short-rib thoracic dysplasia 5 with or without polydactyly; srtd5

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)