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Term:deafness-intellectual disability, Martin-Probst type syndrome
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Accession:DOID:0060830 term browser browse the term
Definition:A syndromic X-linked intellectual disability characterized by severe bilateral deafness, intellectual disability, umbilical hernia and abnormal dermatoglyphics that has_material_basis_in variation on the X chromosome. (DO)
Synonyms:exact_synonym: MENTAL RETARDATION, X-LINKED, SYNDROMIC, MARTIN-PROBST TYPE;   MRXSMP;   Martin-Probst Deafness-Mental Retardation Syndrome;   Martin-Probst syndrome
 primary_id: MESH:C564495;   RDO:0013440
 alt_id: OMIM:300519
 xref: ORDO:85321
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  disease 15553
    syndrome 5224
      deafness-intellectual disability, Martin-Probst type syndrome 0
Path 2
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  disease 15553
    disease of anatomical entity 14837
      nervous system disease 10167
        central nervous system disease 8267
          brain disease 7613
            disease of mental health 5552
              developmental disorder of mental health 2729
                specific developmental disorder 1896
                  intellectual disability 1721
                    syndromic intellectual disability 677
                      Mental Retardation, X-Linked 658
                        syndromic X-linked intellectual disability 584
                          deafness-intellectual disability, Martin-Probst type syndrome 0
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