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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:X-Linked Mental Retardation with Isolated Growth Hormone Deficiency
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Accession:DOID:9004048 term browser browse the term
Synonyms:exact_synonym: X-linked mental retardation with growth hormone deficiency
 primary_id: MESH:C564712

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X-Linked Mental Retardation with Isolated Growth Hormone Deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sox3 SRY-box transcription factor 3 ISO DNA:duplication:cds:c.712_744dup (human) RGD PMID:12428212 RGD:11535974 NCBI chrNW_004624808:6,167,512...6,169,603
Ensembl chrNW_004624808:6,167,512...6,168,891 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14102
    disease of anatomical entity 13770
      endocrine system disease 5515
        Dwarfism 787
          isolated growth hormone deficiency 45
            X-Linked Mental Retardation with Isolated Growth Hormone Deficiency 1
Path 2
Term Annotations click to browse term
  disease 14102
    disease of anatomical entity 13770
      nervous system disease 12060
        central nervous system disease 10811
          brain disease 10142
            disease of mental health 7272
              developmental disorder of mental health 4947
                specific developmental disorder 4082
                  intellectual disability 3898
                    X-Linked Intellectual Developmental Disorders 703
                      X-Linked Mental Retardation with Isolated Growth Hormone Deficiency 1
paths to the root