ONTOLOGY REPORT - ANNOTATIONS


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;   RDO:9000183
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asphyxiating thoracic dystrophy 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Wdr19 WD repeat domain 19 JBrowse link 14 44,705,012 44,767,120 RGD:7240710
RGD:8554872

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Path 1
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  disease 14920
    syndrome 4714
      asphyxiating thoracic dystrophy 44
        asphyxiating thoracic dystrophy 5 1
Path 2
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  disease 14920
    Developmental Diseases 7769
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7091
        genetic disease 6451
          monogenic disease 3222
            autosomal genetic disease 2160
              autosomal recessive disease 1260
                asphyxiating thoracic dystrophy 44
                  asphyxiating thoracic dystrophy 5 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.