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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:Isolated Growth Hormone Deficiency, Partial
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Accession:DOID:9006324 term browser browse the term
Synonyms:exact_synonym: GHDP;   short stature due to growth hormone secretagogue receptor deficiency
 alt_id: OMIM:615925
For additional species annotation, visit the Alliance of Genome Resources.


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Isolated Growth Hormone Deficiency, Partial term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ghsr growth hormone secretagogue receptor ISO ClinVar Annotator: match by term: Short stature due to growth hormone secretagogue receptor deficiency ClinVar
OMIM
PMID:16511605 PMID:19789204 PMID:25741868 PMID:26094658 PMID:28492532 NCBI chr 2:113,065,953...113,071,265
Ensembl chr 2:113,066,885...113,070,261
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17150
    disease of anatomical entity 16494
      endocrine system disease 5802
        Endocrine Bone Diseases 92
          isolated growth hormone deficiency 31
            Isolated Growth Hormone Deficiency, Partial 1
Path 2
Term Annotations click to browse term
  disease 17150
    disease of anatomical entity 16494
      nervous system disease 12094
        central nervous system disease 10374
          brain disease 9730
            thalamic disease 227
              hypothalamic disease 227
                pituitary gland disease 172
                  hypopituitarism 46
                    isolated growth hormone deficiency 31
                      Isolated Growth Hormone Deficiency, Partial 1
paths to the root