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ONTOLOGY REPORT - ANNOTATIONS


Term:Miles-Carpenter syndrome
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Accession:DOID:0060815 term browser browse the term
Definition:A syndromic X-linked intellectual disability characterized by severe intellectual deficit, microcephaly, exotropia, distal muscle wasting and low digital arches that has_material_basis_in variation in chromosomal region Xq13-q22. (DO)
Synonyms:exact_synonym: Apraxia, oculomotor, with congenital contractures and muscle atrophy;   Contractures of feet, muscle atrophy, and oculomotor apraxia;   MCS;   MILES-CARPENTER X-LINKED MENTAL RETARDATION SYNDROME;   MRXS4;   Mental Retardation, X-Linked, with Congenital Contractures and Low Fingertip Arches;   Mental retardation, X-linked, syndromic 4;   WRWF;   Wieacker Wolff syndrome;   X-linked intellectual disability, Miles-Carpenter type
 primary_id: MESH:C536703;   MESH:C537472
 alt_id: OMIM:314580;   RDO:0002360;   RDO:0003317
 xref: ORDO:85283
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Miles-Carpenter syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Zc4h2 zinc finger C4H2-type containing JBrowse link X 64,887,978 64,908,682 RGD:11554173
RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15620
    syndrome 5159
      Miles-Carpenter syndrome 1
Path 2
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  disease 15620
    disease of anatomical entity 14949
      nervous system disease 10219
        central nervous system disease 8096
          brain disease 7565
            disease of mental health 5517
              developmental disorder of mental health 2710
                specific developmental disorder 1882
                  intellectual disability 1705
                    syndromic intellectual disability 672
                      Mental Retardation, X-Linked 656
                        syndromic X-linked intellectual disability 582
                          Miles-Carpenter syndrome 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.