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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: MRXSMP;   Martin-Probst Deafness-Mental Retardation Syndrome;   Martin-Probst syndrome;   syndromic X-linked mental retardation, Martin-Probst type
 primary_id: MESH:C564495
 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 18032
    syndrome 9456
      deafness-intellectual disability, Martin-Probst type syndrome 0
Path 2
Term Annotations click to browse term
  disease 18032
    disease of anatomical entity 17412
      nervous system disease 13079
        central nervous system disease 11254
          brain disease 10539
            disease of mental health 7449
              developmental disorder of mental health 4824
                specific developmental disorder 4065
                  intellectual disability 3878
                    syndromic intellectual disability 663
                      syndromic X-linked intellectual disability 614
                        deafness-intellectual disability, Martin-Probst type syndrome 0
paths to the root