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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 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Pituitary hormone deficiency, combined, 5
ClinVar Annotator: match by term: Growth hormone deficiency with pituitary anomalies
CTD
ClinVar
PMID:11136712 PMID:14561704 PMID:16940453 PMID:17148560 NCBI chr20:33,193,813...33,197,226
Ensembl chr20:33,195,123...33,196,601
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13744
    syndrome 7157
      septooptic dysplasia 11
        Combined Pituitary Hormone Deficiency, 5 1
Path 2
Term Annotations click to browse term
  disease 13744
    disease of anatomical entity 13398
      nervous system disease 11149
        central nervous system disease 9744
          brain disease 9153
            thalamic disease 188
              hypothalamic disease 188
                pituitary gland disease 135
                  hypopituitarism 41
                    panhypopituitarism 10
                      Combined Pituitary Hormone Deficiency, 5 1
paths to the root