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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:MEND syndrome
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Accession:DOID:0111865 term browser browse the term
Definition:A lipid metabolism disorder characterized by a defect in sterol biosynthesis that results in variable features including intellectual disability, short stature, scoliosis, digital abnormalities, cataracts, and dermatologic abnormalities that has_material_basis_in hemizygous mutation in EBP on chromosome Xp11.23. (DO)
Synonyms:exact_synonym: MEND;   male EBP disorder with neurologic defects;   male EBP disorder with neurological defects
 primary_id: OMIM:300960
 xref: ORDO:401973
For additional species annotation, visit the Alliance of Genome Resources.


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MEND syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ebp EBP, cholestenol delta-isomerase ISO ClinVar Annotator: match by term: MEND syndrome ClinVar
OMIM
PMID:11038443 PMID:12503101 PMID:12966533 PMID:18414213 PMID:20949533 More... NCBI chr  X:14,299,427...14,305,826
Ensembl chr  X:14,299,448...14,305,826
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17205
    syndrome 8125
      MEND syndrome 1
Path 2
Term Annotations click to browse term
  disease 17205
    disease of anatomical entity 16551
      nervous system disease 12097
        central nervous system disease 10373
          brain disease 9736
            disease of mental health 7038
              developmental disorder of mental health 4374
                specific developmental disorder 3633
                  intellectual disability 3444
                    MEND syndrome 1
paths to the root