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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
 xref: EFO:1001979


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adrenocorticotropic hormone deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PIEZO1 piezo type mechanosensitive ion channel component 1 ISO ClinVar Annotator: match by term: ACTH deficiency ClinVar PMID:25741868 NCBI chr 5:64,584,153...64,640,423
Ensembl chr 5:64,570,035...64,640,375 		JBrowse link
G RPE65 retinoid isomerohydrolase RPE65 ISO ClinVar Annotator: match by term: ACTH deficiency ClinVar PMID:9326941 PMID:9501220 PMID:9843205 PMID:18632300 PMID:25741868 More... NCBI chr 6:76,887,399...76,911,133
Ensembl chr 6:76,887,399...76,911,131 		JBrowse link
G TBX19 T-box transcription factor 19 ISO ClinVar Annotator: match by term: ACTH deficiency OMIM
ClinVar		 PMID:2830787 PMID:9536098 PMID:11290323 PMID:12651888 PMID:15476446 More... NCBI chr 7:30,198,912...30,248,410
Ensembl chr 7:30,185,850...30,365,512 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17773
    Developmental Disease 17564
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17452
        genetic disease 17430
          adrenocorticotropic hormone deficiency 3
Path 2
Term Annotations click to browse term
  disease 17773
    disease of anatomical entity 15145
      nervous system disease 13207
        central nervous system disease 11844
          brain disease 11124
            hypothalamic disease 475
              pituitary gland disease 245
                hypopituitarism 75
                  adrenocorticotropic hormone deficiency 3
paths to the root