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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:combined or isolated pituitary growth hormone deficiency 7
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Accession:DOID:0061016 term browser browse the term
Definition:A combined pituitary hormone deficiency that has_material_basis_in compound heterozygous mutation in the RNPC3 gene on chromosome 1p21. (DO)
Synonyms:exact_synonym: CPHD7;   IGHD5;   ISOLATED GROWTH HORMONE DEFICIENCY, TYPE 5;   Isolated growth hormone deficiency type V
 alt_id: DOID:9009240
 xref: MIM:618160;   MONDO:0032569


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combined or isolated pituitary growth hormone deficiency 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rnpc3 RNA-binding region (RNP1, RRM) containing 3 ISO ClinVar Annotator: match by term: Isolated growth hormone deficiency, type 5 OMIM
ClinVar		 PMID:24480542 PMID:25741868 PMID:29255062 PMID:32462814 PMID:33650182 More... NCBI chr 2:204,121,191...204,145,128
Ensembl chr 2:204,121,193...204,145,128 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      endocrine system disease 7008
        Endocrine Bone Diseases 360
          isolated growth hormone deficiency 50
            combined or isolated pituitary growth hormone deficiency 7 1
Path 2
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      nervous system disease 14369
        central nervous system disease 12646
          brain disease 11866
            hypothalamic disease 511
              pituitary gland disease 275
                hypopituitarism 75
                  isolated growth hormone deficiency 50
                    combined or isolated pituitary growth hormone deficiency 7 1
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