Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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.


GViewer not supported for chinchilla.
show annotations for term's descendants           Sort by:
 
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 chrNW_004955430:6,955,575...6,956,991
Ensembl chrNW_004955430:6,955,575...6,956,991
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12680
    syndrome 6707
      septooptic dysplasia 10
        Combined Pituitary Hormone Deficiency, 5 1
Path 2
Term Annotations click to browse term
  disease 12680
    disease of anatomical entity 12357
      nervous system disease 10304
        central nervous system disease 9020
          brain disease 8465
            thalamic disease 178
              hypothalamic disease 178
                pituitary gland disease 126
                  hypopituitarism 37
                    panhypopituitarism 9
                      Combined Pituitary Hormone Deficiency, 5 1
paths to the root