ONTOLOGY REPORT - ANNOTATIONS


Term:asphyxiating thoracic dystrophy 2
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Accession:DOID:0110086 term browser browse the term
Definition:An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the IFT80 gene on chromosome 3q25. (DO)
Synonyms:exact_synonym: ATD2;   SHORT-RIB THORACIC DYSPLASIA 2 WITH OR WITHOUT POLYDACTYLY;   SRTD2
 primary_id: MESH:C566982;   RDO:0015175
 alt_id: OMIM:611263
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asphyxiating thoracic dystrophy 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ift80 intraflagellar transport 80 JBrowse link 2 165,506,878 165,600,748 RGD:7240710
RGD:8554872

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Path 1
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  disease 14920
    syndrome 4714
      Ellis-Van Creveld syndrome 11
        asphyxiating thoracic dystrophy 2 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
                Ellis-Van Creveld syndrome 11
                  asphyxiating thoracic dystrophy 2 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.