ONTOLOGY REPORT - ANNOTATIONS


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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Term Annotations click to browse term
  disease 14823
    syndrome 4218
      deafness-intellectual disability, Martin-Probst type syndrome 0
Path 2
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  disease 14823
    disease of anatomical entity 13997
      nervous system disease 9111
        central nervous system disease 6908
          brain disease 6412
            disease of mental health 4323
              developmental disorder of mental health 2594
                specific developmental disorder 1329
                  intellectual disability 1157
                    syndromic intellectual disability 211
                      Mental Retardation, X-Linked 198
                        syndromic X-linked intellectual disability 45
                          deafness-intellectual disability, Martin-Probst type syndrome 0
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.