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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 Type V
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Accession:DOID:9009240 term browser browse the term
Definition:A disease characterized by severe postnatal growth failure, delayed bone age without bone dysplasia, and hypoplasia of the anterior pituitary.
Synonyms:exact_synonym: IGHD5
 primary_id: OMIM:618160
For additional species annotation, visit the Alliance of Genome Resources.


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Isolated Growth Hormone Deficiency Type V 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 V ClinVar
OMIM
PMID:24480542 PMID:29255062 NCBI chr 2:216,481,457...216,510,051
Ensembl chr 2:216,481,436...216,509,827
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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 Type V 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 Type V 1
paths to the root