ONTOLOGY REPORT - ANNOTATIONS


Term:IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES
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Accession:DOID:9001094 term browser browse the term
Synonyms:exact_synonym: ISDNA
 primary_id: OMIM:617425;   RDO:9001706
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IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Extl3 exostosin-like glycosyltransferase 3 JBrowse link 15 48,420,419 48,465,171 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14823
    disease of anatomical entity 13997
      immune system disease 2440
        IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES 1
Path 2
Term Annotations click to browse term
  disease 14823
    Developmental Diseases 7637
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6675
        genetic disease 5920
          monogenic disease 2859
            X-linked monogenic disease 490
              combined T cell and B cell immunodeficiency 67
                severe combined immunodeficiency 53
                  IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.