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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:MEHMO syndrome
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Accession:DOID:0060801 term browser browse the term
Definition:A syndromic X-linked intellectual disability characterized by severe intellectual deficit, epilepsy, microcephaly, hypogenitalism and obesity with variable occurrence of growth delay and diabetes that has_material_basis_in variation in the chromosome region Xp22.13-p21.1. (DO)
Synonyms:exact_synonym: Borck type of X-linked syndromic mental retardation;   MEHMO;   MRXS20;   MRXS25;   MRXSBRK;   X-linked MEHMO syndrome;   X-linked intellectual disability-epileptic seizures-hypogenitalism-microcephaly-obesity syndrome;   X-linked mental retardation, syndromic, Borck type;   X-linked syndromic mental retardation 20;   X-linked syndromic mental retardation 25;   mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity
 primary_id: MESH:C537451
 alt_id: OMIM:300148;   RDO:0003294;   RDO:9001671
 xref: ORDO:85282
For additional species annotation, visit the Alliance of Genome Resources.


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MEHMO syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eif2s3 eukaryotic translation initiation factor 2 subunit gamma ISO ClinVar Annotator: match by term: Mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity
ClinVar Annotator: match by term: MEHMO syndrome
ClinVar
OMIM
PMID:23063529 PMID:25741868 PMID:25741869 PMID:27333055 PMID:28055140 NCBI chr  X:58,916,513...58,939,923
Ensembl chr  X:58,917,490...58,940,686
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17205
    syndrome 8125
      MEHMO 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
                    syndromic intellectual disability 761
                      Mental Retardation, X-Linked 719
                        syndromic X-linked intellectual disability 591
                          MEHMO syndrome 1
paths to the root