RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
An asphyxiating thoracic dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the DYNC2H1 gene on chromosome 11q22. (DO)
Synonyms:
exact_synonym:
ATD3; SRPS type 1; SRPS1; SRPS2B; SRPS3; SRTD3; Saldino-Noonan syndrome; Verma-Naumoff syndrome; polydactyly with neonatal chondrodystrophy, type 1; polydactyly with neonatal chondrodystrophy, type 3; polydactyly with neonatal chondrodystrophy, type I; polydactyly with neonatal chondrodystrophy, type III; short rib polydactyly syndrome type 1; short rib polydactyly syndrome, Saldino Noonan type; short rib-polydactyly syndrome, Verma-Naumoff type; short rib-polydactyly syndrome, type I; short rib-polydactyly syndrome, type IIB; short rib-polydactyly syndrome, type III; short-rib thoracic dysplasia 3 with or without polydactyly
CTD Direct Evidence: marker/mechanism OMIM:613091 ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3 | ClinVar Annotator: match by term: DYNC2H1-related disorder | ClinVar Annotator: match by term: Short-rib thoracic dysplasia 3 with or without polydactyly
ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3 | ClinVar Annotator: match by term: Short-rib thoracic dysplasia 3 with or without polydactyly
ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3 | ClinVar Annotator: match by term: Short-rib thoracic dysplasia 3 with or without polydactyly
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