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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:Chromosome Xq27.3-q28 Duplication Syndrome
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Accession:DOID:9007504 term browser browse the term
Definition:An X-linked recessive neurodevelopmental disorder characterized by mild mental retardation, mild facial dysmorphism, short stature, and primary testicular failure manifest as high-pitched voice, sparse body hair, abdominal obesity, and small testes. Caused by copy number increase of a 5.1-Mb region of chromosome Xq27.3-q28 encompassing at least 28 genes, including FMR1.
Synonyms:primary_id: OMIM:300869


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Path 1
Term Annotations click to browse term
  disease 21126
    Developmental Disease 18448
      Neurodevelopmental Disorders 6834
        Chromosome Xq27.3-q28 Duplication Syndrome 0
Path 2
Term Annotations click to browse term
  disease 21126
    disease of anatomical entity 18216
      nervous system disease 14065
        central nervous system disease 12403
          brain disease 11639
            disease of mental health 8308
              Neurodevelopmental Disorders 6834
                Chromosome Xq27.3-q28 Duplication Syndrome 0
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