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Disease Ontology Browser
asphyxiating thoracic dystrophy 3 (DOID:0110087)
Synonyms: short rib-polydactyly syndrome, type I; 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; SRPS3; SRTD3; Verma-Naumoff syndrome
Alt IDs: OMIM:613091, ICD10CM:Q77.2
Definition: An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the DYNC2H1 gene on chromosome 11q22.

Disease References using Mouse Models (2)

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
03/21/2017
MGI 6.08
The Jackson Laboratory