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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:alopecia-mental retardation syndrome 2
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Accession:DOID:0080629 term browser browse the term
Definition:An alopecia-mental retardation syndrome that has_material_basis_in variation in chromosome 3q26.2-q26.31. (DO)
Synonyms:exact_synonym: APMR2;   alopecia-intellectual disability syndrome 2
 primary_id: MESH:C563668
 alt_id: OMIM:610422

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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    syndrome 9329
      alopecia-mental retardation syndrome 3
        alopecia-mental retardation syndrome 2 0
Path 2
Term Annotations click to browse term
  disease 16063
    Pathological Conditions, Signs and Symptoms 11054
      Signs and Symptoms 9145
        Neurologic Manifestations 8844
          sensory system disease 6162
            skin disease 3500
              hair disease 298
                hypotrichosis 125
                  alopecia 80
                    alopecia-mental retardation syndrome 3
                      alopecia-mental retardation syndrome 2 0
paths to the root