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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

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 paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    syndrome 7041
      deafness-intellectual disability, Martin-Probst type syndrome 0
Path 2
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      nervous system disease 10967
        central nervous system disease 9119
          brain disease 8448
            disease of mental health 6088
              developmental disorder of mental health 3187
                specific developmental disorder 2367
                  intellectual disability 2190
                    syndromic intellectual disability 687
                      Mental Retardation, X-Linked 664
                        syndromic X-linked intellectual disability 587
                          deafness-intellectual disability, Martin-Probst type syndrome 0
paths to the root