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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:25741868, PMID:30576320 NCBI chr 2:266,141,581...266,169,197
Ensembl chr 2:266,141,581...266,169,197
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, PMID:17652218, PMID:25326635, PMID:25741868, PMID:28492532 NCBI chr13:83,403,263...83,426,305
Ensembl chr13:83,403,264...83,425,641
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16035
    Developmental Diseases 9546
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8378
        genetic disease 7877
          adrenocorticotropic hormone deficiency 2
Path 2
Term Annotations click to browse term
  disease 16035
    disease of anatomical entity 15289
      nervous system disease 10903
        central nervous system disease 9050
          brain disease 8375
            thalamic disease 213
              hypothalamic disease 213
                pituitary gland disease 167
                  hypopituitarism 44
                    adrenocorticotropic hormone deficiency 2
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.