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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 Pituitary Hormone Deficiency, 5
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Accession:DOID:9002446 term browser browse the term
Synonyms:exact_synonym: CPHD5;   growth hormone deficiency with pituitary anomalies;   hypopituitarism and septooptic dysplasia
 primary_id: MESH:C531815;   MESH:C567632
For additional species annotation, visit the Alliance of Genome Resources.


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Combined Pituitary Hormone Deficiency, 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hesx1 homeobox gene expressed in ES cells ISO ClinVar Annotator: match by term: Pituitary hormone deficiency, combined, 5
ClinVar Annotator: match by term: Growth hormone deficiency with pituitary anomalies
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:11136712 PMID:14561704 PMID:16940453 PMID:17148560 NCBI chr14:26,994,419...27,002,329
Ensembl chr14:26,994,416...27,002,329
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14439
    syndrome 7535
      septooptic dysplasia 10
        Combined Pituitary Hormone Deficiency, 5 1
Path 2
Term Annotations click to browse term
  disease 14439
    disease of anatomical entity 14033
      nervous system disease 11590
        central nervous system disease 10103
          brain disease 9488
            thalamic disease 200
              hypothalamic disease 200
                pituitary gland disease 146
                  hypopituitarism 45
                    panhypopituitarism 10
                      Combined Pituitary Hormone Deficiency, 5 1
paths to the root