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RGD DISEASE ONTOLOGY - ANNOTATIONS

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.

Term:asphyxiating thoracic dystrophy 3
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Accession:DOID:0110087 term browser browse the term
Definition: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;   Polydactyly With Neonatal Chondrodystrophy, Type III;   SRPS2B;   SRPS3;   SRTD3;   Verma-Naumoff syndrome;   polydactyly with neonatal chondrodystrophy, type 3;   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
 broad_synonym: DYNC2H1-related disorder
 primary_id: MESH:C537602
 alt_id: OMIM:613091
 xref: GARD:4835;   NCI:C163755
For additional species annotation, visit the Alliance of Genome Resources.



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asphyxiating thoracic dystrophy 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dync2h1 dynein cytoplasmic 2 heavy chain 1 ISO ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3 | ClinVar Annotator: match by term: DYNC2H1-Related Disorder | ClinVar Annotator: match by term: Short rib-polydactyly syndrome, Verma-Naumoff type | ClinVar Annotator: match by term: Short-rib thoracic dysplasia 3 with or without polydactyly OMIM
ClinVar
PMID:19361615 PMID:19442771 PMID:21211617 PMID:22499340 PMID:23339108 More... NCBI chr 8:4,189,257...4,412,183
Ensembl chr 8:4,189,257...4,412,183
JBrowse link
G Dync2i1 dynein 2 intermediate chain 1 ISO ClinVar Annotator: match by term: Short rib-polydactyly syndrome, Verma-Naumoff type ClinVar PMID:29068549 NCBI chr 6:137,133,418...137,189,937
Ensembl chr 6:137,133,418...137,188,719
JBrowse link
G Dync2i2 dynein 2 intermediate chain 2 ISO ClinVar Annotator: match by term: Short rib-polydactyly syndrome, Verma-Naumoff type ClinVar PMID:29068549 NCBI chr 3:13,306,039...13,322,121
Ensembl chr 3:13,306,039...13,322,121
JBrowse link
G Dynlt2b dynein light chain Tctex-type 2B ISO ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3 ClinVar NCBI chr11:68,359,138...68,367,573
Ensembl chr11:68,358,263...68,367,499
JBrowse link
G Fam98c family with sequence similarity 98, member C ISO ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3 ClinVar NCBI chr 1:84,452,806...84,456,414
Ensembl chr 1:84,452,814...84,456,385
JBrowse link
G Ift80 intraflagellar transport 80 ISS OMIM:613091 MouseDO NCBI chr 2:153,144,707...153,240,024
Ensembl chr 2:153,145,795...153,240,024
JBrowse link
G Kif24 kinesin family member 24 ISO ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3 ClinVar NCBI chr 5:56,561,019...56,628,040
Ensembl chr 5:56,561,154...56,628,025
JBrowse link
G Nek1 NIMA-related kinase 1 ISO ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3 ClinVar PMID:21211617 PMID:25741868 NCBI chr16:28,998,229...29,125,426
Ensembl chr16:28,998,231...29,117,723
JBrowse link
G Tmem256 transmembrane protein 256 ISO ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3 ClinVar NCBI chr10:54,559,030...54,560,146
Ensembl chr10:54,555,360...54,560,120
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18030
    syndrome 9456
      asphyxiating thoracic dystrophy 124
        asphyxiating thoracic dystrophy 3 9
Path 2
Term Annotations click to browse term
  disease 18030
    disease of anatomical entity 17410
      musculoskeletal system disease 7137
        connective tissue disease 4899
          bone disease 3577
            bone development disease 1760
              osteochondrodysplasia 604
                asphyxiating thoracic dystrophy 124
                  asphyxiating thoracic dystrophy 3 9
paths to the root