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Echinobase
Summary Literature (0)
DOID:0110086 - asphyxiating thoracic dystrophy 2

Disease Ontology Definition:An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the IFT80 gene on chromosome 3q25.

Synonyms: ATD2, SRTD2, short-rib thoracic dysplasia 2 with or without polydactyly ,

Echinobase Genes : ift80


OMIM:
MIM:611263 - short-rib thoracic dysplasia 2 with or without polydactyly; srtd2

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)