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
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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

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  disease 14875
    syndrome 4220
      MEHMO syndrome 1
Path 2
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  disease 14875
    disease of anatomical entity 14051
      nervous system disease 9116
        central nervous system disease 6913
          brain disease 6418
            disease of mental health 4325
              developmental disorder of mental health 2595
                specific developmental disorder 1330
                  intellectual disability 1158
                    syndromic intellectual disability 211
                      Mental Retardation, X-Linked 198
                        syndromic X-linked intellectual disability 45
                          MEHMO syndrome 1
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