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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:adrenocorticotropic hormone deficiency
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Accession:DOID:0080150 term browser browse the term
Definition:A hypopituitarrium that is characterized by a decreased or absent production of adrenocorticotropic hormone by the pituitary gland. (DO)
Synonyms:exact_synonym: ACTH DEFICIENCY;   IAD;   isolated ACTH deficiency
 primary_id: MESH:C535668;   MESH:C562707
 alt_id: OMIM:201400;   RDO:0000917;   RDO:0012302
For additional species annotation, visit the Alliance of Genome Resources.



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adrenocorticotropic hormone deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rpe65 retinoid isomerohydrolase RPE65 ISO ClinVar Annotator: match by term: Adrenocorticotropic hormone deficiency ClinVar PMID:9326941 PMID:9501220 PMID:9843205 PMID:18632300 PMID:25741868 More... NCBI chr 2:248,766,497...248,798,403
Ensembl chr 2:248,766,612...248,798,403
JBrowse link
G Tbx19 T-box transcription factor 19 ISO ClinVar Annotator: match by OMIM:201400
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Adrenocorticotropic hormone deficiency
OMIM
ClinVar
CTD
PMID:2830787 PMID:11290323 PMID:12651888 PMID:15476446 PMID:16390921 More... NCBI chr13:77,450,848...77,484,475
Ensembl chr13:77,450,849...77,504,163
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17240
    Developmental Disease 10942
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9477
        genetic disease 8979
          adrenocorticotropic hormone deficiency 2
Path 2
Term Annotations click to browse term
  disease 17240
    disease of anatomical entity 16581
      nervous system disease 12115
        central nervous system disease 10393
          brain disease 9755
            thalamic disease 227
              hypothalamic disease 227
                pituitary gland disease 172
                  hypopituitarism 46
                    adrenocorticotropic hormone deficiency 2
paths to the root