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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 HESX homeobox 1 IAGP
EXP
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 chr 3:57,197,838...57,227,643
Ensembl chr 3:57,197,838...57,227,606
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 20160
    syndrome 8995
      septooptic dysplasia 11
        Combined Pituitary Hormone Deficiency, 5 1
Path 2
Term Annotations click to browse term
  disease 20160
    disease of anatomical entity 18757
      nervous system disease 14794
        central nervous system disease 12970
          brain disease 12188
            thalamic disease 209
              hypothalamic disease 209
                pituitary gland disease 152
                  hypopituitarism 49
                    panhypopituitarism 12
                      Combined Pituitary Hormone Deficiency, 5 1
paths to the root