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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 chr  X:110,361,354...110,363,458
Ensembl chr  X:110,362,124...110,363,458 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17773
    disease of anatomical entity 15151
      endocrine system disease 6019
        Dwarfism 848
          isolated growth hormone deficiency 52
            X-Linked Mental Retardation with Isolated Growth Hormone Deficiency 1
Path 2
Term Annotations click to browse term
  disease 17773
    disease of anatomical entity 15151
      nervous system disease 13214
        central nervous system disease 11849
          brain disease 11130
            disease of mental health 8074
              developmental disorder of mental health 5497
                specific developmental disorder 4470
                  intellectual disability 4276
                    X-Linked Intellectual Developmental Disorders 805
                      X-Linked Mental Retardation with Isolated Growth Hormone Deficiency 1
paths to the root