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ONTOLOGY REPORT - ANNOTATIONS


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 JBrowse Chr Start Stop Reference
G Eif2s3 eukaryotic translation initiation factor 2 subunit gamma JBrowse link X 63,268,106 63,291,125 RGD:8554872
RGD:11554173
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14759
    syndrome 4210
      MEHMO syndrome 1
Path 2
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  disease 14759
    disease of anatomical entity 13978
      nervous system disease 9097
        central nervous system disease 6892
          brain disease 6396
            disease of mental health 4314
              developmental disorder of mental health 2584
                specific developmental disorder 1319
                  intellectual disability 1146
                    syndromic intellectual disability 211
                      Mental Retardation, X-Linked 198
                        syndromic X-linked intellectual disability 45
                          MEHMO syndrome 1
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