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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 OMIM:614376
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:17576681 PMID:19430947 PMID:22019273 PMID:23559409 PMID:23683095 PMID:24504730 PMID:25726036 PMID:25741868 PMID:26260382 PMID:26275793 PMID:26489029 PMID:27241786 PMID:27596865 PMID:28492532 PMID:28621010 PMID:28973083 PMID:29068549 PMID:30266093 PMID:31837199 PMID:32165824 NCBI chr14:44,705,012...44,767,120
Ensembl chr14:44,705,012...44,767,120
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16929
    syndrome 7653
      asphyxiating thoracic dystrophy 43
        asphyxiating thoracic dystrophy 5 1
Path 2
Term Annotations click to browse term
  disease 16929
    disease of anatomical entity 16296
      Skin and Connective Tissue Diseases 5625
        connective tissue disease 4355
          bone disease 3041
            bone development disease 1371
              osteochondrodysplasia 449
                asphyxiating thoracic dystrophy 43
                  asphyxiating thoracic dystrophy 5 1
paths to the root