Echinobase will be undergoing a hardware update June 13 and 14, 2023 and therefore will be unavailable those days.

We apologize for the inconvenience.

Click on this message to dismiss it.
Click here to close Hello! We notice that you are using Internet Explorer, which is not supported by Echinobase and may cause the site to display incorrectly. We suggest using a current version of Chrome, FireFox, or Safari.
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: 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,

Echinobase Genes : dync2h1

OMIM:613091 - short-rib thoracic dysplasia 3 with or without polydactyly; srtd3

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)