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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: ATD3, SRPS1, SRPS2B, SRPS3, SRTD3, Saldino-Noonan syndrome, Verma-Naumoff syndrome, polydactyly with neonatal chondrodystrophy, type I, polydactyly with neonatal chondrodystrophy, type III, short rib-polydactyly syndrome, type I, short rib-polydactyly syndrome, type IIB, short-rib thoracic dysplasia 3 with or without polydactyly,
Xenbase Genes
![Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries](img/icons/info1.png)
MONDO:0013127 - asphyxiating thoracic dystrophy 3 |
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee