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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,

Xenbase Genes : wdr19

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0013717 - asphyxiating thoracic dystrophy 5


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)