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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 1
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Accession:DOID:0111623 term browser browse the term
Definition:An ACTH-independent macronodular adrenal hyperplasia that has_material_basis_in somatic mutation in GNAS on chromosome 20q13.32. (DO)
Synonyms:exact_synonym: ACTH-independent Cushing syndrome;   ACTH-independent adrenal Cushing syndrome, somatic;   ACTH-independent macronodular adrenocortical hyperplasia;   AIMAH;   AIMAH1;   Adrenocorticotropic Hormone-Independent Macronodular Adrenal Hyperplasia;   Corticotropin-Independent Macronodular Adrenal Hyperplasia;   adrenal Cushing syndrome, due to AIMAH;   primary macronodular adrenal hyperplasia
 primary_id: MESH:C565662
 alt_id: OMIA:001937;   OMIM:219080
For additional species annotation, visit the Alliance of Genome Resources.


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ACTH-independent macronodular adrenal hyperplasia 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Armc5 armadillo repeat containing 5 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:199,655,069...199,662,419
Ensembl chr 1:199,655,660...199,662,427
JBrowse link
G Gcgr glucagon receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20529775 NCBI chr10:109,707,863...109,716,253
Ensembl chr10:109,707,962...109,716,128
JBrowse link
G Gnas GNAS complex locus ISO ClinVar Annotator: match by OMIM:219080
DNA:missense mutations:exon:p.R201S, p.R201H (human)
ClinVar Annotator: match by term: ACTH-INDEPENDENT MACRONODULAR ADRENOCORTICAL HYPERPLASIA
OMIM
ClinVar
PMID:1594625 PMID:1944469 PMID:2549426 PMID:3720010 PMID:7739708 PMID:8766942 PMID:9267696 PMID:9626141 PMID:12727968 PMID:12970318 PMID:15126527 PMID:16507630 PMID:21835143 PMID:23536913 PMID:24855271 PMID:25157968 PMID:26619011, PMID:12727968 RGD:11568052 NCBI chr 3:172,374,957...172,434,988
Ensembl chr 3:172,374,957...172,428,483
Ensembl chr 3:172,374,957...172,428,483
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16122
    syndrome 7057
      Cushing Syndrome 10
        ACTH-independent macronodular adrenal hyperplasia 1 3
Path 2
Term Annotations click to browse term
  disease 16122
    disease of anatomical entity 15369
      endocrine system disease 5011
        adrenal gland disease 171
          adrenal cortex disease 76
            adrenal gland hyperfunction 32
              primary hyperaldosteronism 26
                ACTH-independent macronodular adrenal hyperplasia 3
                  ACTH-independent macronodular adrenal hyperplasia 1 3
paths to the root