ONTOLOGY REPORT - ANNOTATIONS


Term:MEND SYNDROME
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Accession:DOID:9006904 term browser browse the term
Definition:An X-linked recessive disorder representing a continuous phenotypic spectrum with variable manifestations associated with a defect in sterol biosynthesis. (OMIM)
Synonyms:exact_synonym: MEND
 primary_id: OMIM:300960;   RDO:9001648
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MEND SYNDROME term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ebp EBP, cholestenol delta-isomerase JBrowse link X 15,049,394 15,055,782 RGD:8554872
RGD:7240710

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Path 1
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  disease 14875
    syndrome 4220
      MEND SYNDROME 1
Path 2
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  disease 14875
    disease of anatomical entity 14051
      nervous system disease 9116
        central nervous system disease 6913
          brain disease 6418
            disease of mental health 4325
              developmental disorder of mental health 2595
                specific developmental disorder 1330
                  intellectual disability 1158
                    MEND SYNDROME 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.