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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: MALE EBP DISORDER WITH NEUROLOGIC DEFECTS;   MEND
 primary_id: OMIM:300960
For additional species annotation, visit the Alliance of Genome Resources.


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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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15602
    syndrome 5231
      MEND Syndrome 1
Path 2
Term Annotations click to browse term
  disease 15602
    disease of anatomical entity 14933
      nervous system disease 10260
        central nervous system disease 8136
          brain disease 7608
            disease of mental health 5547
              developmental disorder of mental health 2725
                specific developmental disorder 1893
                  intellectual disability 1718
                    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.