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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
 xref: MONDO:0013717;   OMIM:614376

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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 chr27:11,019,897...11,113,760
Ensembl chr27:11,018,827...11,113,666 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15274
    syndrome 9993
      asphyxiating thoracic dystrophy 233
        asphyxiating thoracic dystrophy 5 1
Path 2
Term Annotations click to browse term
  disease 15274
    disease of anatomical entity 14909
      Skin and Connective Tissue Diseases 6799
        connective tissue disease 5243
          bone disease 3811
            bone development disease 2250
              osteochondrodysplasia 858
                asphyxiating thoracic dystrophy 233
                  asphyxiating thoracic dystrophy 5 1
paths to the root