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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:ACTH-independent macronodular adrenal hyperplasia 2
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Accession:DOID:0111624 term browser browse the term
Definition:An ACTH-independent macronodular adrenal hyperplasia that has_material_basis_in a combination of autosomal dominant and second hit somatic mutation in ARMC5 on chromosome 16p11.2. (DO)
Synonyms:exact_synonym: AIMAH2;   primary macronodular adrenal hyperplasia
 primary_id: OMIM:615954
For additional species annotation, visit the Alliance of Genome Resources.


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ACTH-independent macronodular adrenal hyperplasia 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Armc5 armadillo repeat containing 5 ISO ClinVar Annotator: match by term: Acth-independent macronodular adrenal hyperplasia 2 OMIM
ClinVar
PMID:24283224 PMID:24601692 PMID:24905064 PMID:25741868 NCBI chr 1:199,655,069...199,662,419
Ensembl chr 1:199,655,660...199,662,427
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16929
    syndrome 7653
      Cushing Syndrome 10
        ACTH-independent macronodular adrenal hyperplasia 2 1
Path 2
Term Annotations click to browse term
  disease 16929
    disease of anatomical entity 16296
      endocrine system disease 5717
        adrenal gland disease 213
          adrenal cortex disease 75
            adrenal gland hyperfunction 31
              primary hyperaldosteronism 25
                ACTH-independent macronodular adrenal hyperplasia 3
                  ACTH-independent macronodular adrenal hyperplasia 2 1
paths to the root