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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
For additional species annotation, visit the Alliance of Genome Resources.


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Term Annotations click to browse term
  disease 14759
    syndrome 4210
      deafness-intellectual disability, Martin-Probst type syndrome 0
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
                          deafness-intellectual disability, Martin-Probst type syndrome 0
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