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RGD uses the Human Disease Ontology (DO, 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: MALE EBP DISORDER WITH NEUROLOGIC DEFECTS;   MEND;   male EBP disorder with neurological defects
 primary_id: OMIM:300960
 alt_id: DOID:9006904
 xref: ORDO:401973
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants           Sort by:
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
PMID:11038443, PMID:12503101, PMID:12966533, PMID:18414213, PMID:20949533, PMID:23307567, PMID:24459067, PMID:24700572 NCBI chr  X:15,049,394...15,055,782
Ensembl chr  X:15,049,462...15,055,781
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    syndrome 6996
      MEND syndrome 1
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        central nervous system disease 9021
          brain disease 8346
            disease of mental health 6015
              developmental disorder of mental health 3136
                specific developmental disorder 2310
                  intellectual disability 2131
                    MEND syndrome 1
paths to the root


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.