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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 5
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Accession:DOID:0110089 term browser browse the term
Definition:An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the WDR19 gene on chromosome 4p14. (DO)
Synonyms:exact_synonym: ATD5;   SRTD5;   short-rib thoracic dysplasia 5 with or without polydactyly
 primary_id: OMIM:614376
For additional species annotation, visit the Alliance of Genome Resources.



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asphyxiating thoracic dystrophy 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wdr19 WD repeat domain 19 ISO ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 5 | ClinVar Annotator: match by term: SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19430947 PMID:22019273 More... NCBI chr14:43,042,474...43,106,337
Ensembl chr14:43,042,478...43,106,288
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18154
    syndrome 9705
      asphyxiating thoracic dystrophy 124
        asphyxiating thoracic dystrophy 5 1
Path 2
Term Annotations click to browse term
  disease 18154
    disease of anatomical entity 17529
      Skin and Connective Tissue Diseases 6745
        connective tissue disease 5121
          bone disease 3801
            bone development disease 1876
              osteochondrodysplasia 615
                asphyxiating thoracic dystrophy 124
                  asphyxiating thoracic dystrophy 5 1
paths to the root