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

Xenbase Genes : ift80

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0012644 - asphyxiating thoracic dystrophy 2

MIM:
MIM:611263 - SHORT-RIB THORACIC DYSPLASIA 2 WITH OR WITHOUT POLYDACTYLY; SRTD2

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view
Parent(s): asphyxiating thoracic dystrophy (is_a), autosomal recessive disease (is_a)