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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
For additional species annotation, visit the Alliance of Genome Resources.


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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 ClinVar Annotator: match by term: Mental retardation, X-linked, with isolated growth hormone deficiency
DNA:duplication:cds:c.712_744dup (human)
ClinVar PMID:8826446 PMID:12428212 PMID:12428212 RGD:11535974 NCBI chr  X:139,308,608...139,310,734
Ensembl chr  X:139,309,329...139,310,678
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17207
    disease of anatomical entity 16553
      endocrine system disease 5808
        Dwarfism 495
          isolated growth hormone deficiency 31
            X-Linked Mental Retardation with Isolated Growth Hormone Deficiency 1
Path 2
Term Annotations click to browse term
  disease 17207
    disease of anatomical entity 16553
      nervous system disease 12101
        central nervous system disease 10378
          brain disease 9741
            disease of mental health 7043
              developmental disorder of mental health 4378
                specific developmental disorder 3635
                  intellectual disability 3446
                    syndromic intellectual disability 761
                      Mental Retardation, X-Linked 719
                        X-Linked Mental Retardation with Isolated Growth Hormone Deficiency 1
paths to the root