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Summary Literature (0)
DOID:0110087 - asphyxiating thoracic dystrophy 3

Disease Ontology Definition:An asphyxiating thoracic dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the DYNC2H1 gene on chromosome 11q22.

Synonyms: short rib-polydactyly syndrome, type I, SRPS3, ATD3, polydactyly with neonatal chondrodystrophy, type I, polydactyly with neonatal chondrodystrophy, type III, Saldino-Noonan syndrome, short rib-polydactyly syndrome, type IIB, short-rib thoracic dysplasia 3 with or without polydactyly, SRPS1, SRPS2B, SRTD3, Verma-Naumoff syndrome

Xenbase Genes : dync2h1

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0013127 - asphyxiating thoracic dystrophy 3

MIM:
MIM:613091 - SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY; SRTD3

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)