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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:Addison's disease
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Accession:DOID:13774 term browser browse the term
Definition:An adrenal cortical hypofunction that is characterized by insufficient steroid hormone production by the adrenal glands. (DO)
Synonyms:exact_synonym: Addison disease;   Addison disease, chronic adrenal insufficiency;   Addisons disease;   adrenal aplasia;   adrenal hypoplasia;   familial hypoadrenocorticism;   primary adrenal insufficiency;   primary adrenocortical insufficiencies;   primary adrenocortical insufficiency;   primary hypoadrenalism;   primary hypoadrenalisms
 primary_id: MESH:D000224
 alt_id: OMIM:240200
 xref: GARD:5740;   ICD10CM:E27.1;   NCI:C26689;   ORDO:85138
For additional species annotation, visit the Alliance of Genome Resources.



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Addison's disease term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcd1 ATP binding cassette subfamily D member 1 ISO ClinVar Annotator: match by term: Primary adrenocortical insufficiency ClinVar PMID:7581394 PMID:7668254 PMID:8040304 PMID:8651290 PMID:8773611 More... NCBI chr  X:151,428,334...151,450,115
Ensembl chr  X:151,428,578...151,450,115
JBrowse link
G Ciita class II, major histocompatibility complex, transactivator ISO DNA:polymorphism:intron:rs8048002T>C (human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:18593762 PMID:18593762 RGD:5491177 NCBI chr10:5,139,947...5,187,493
Ensembl chr10:5,140,178...5,187,440
JBrowse link
G Clec16a C-type lectin domain containing 16A ISO DNA:polymorphism:intron:rs12917716C (human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:18593762 PMID:18593762 RGD:5491177 NCBI chr10:4,927,804...5,123,749
Ensembl chr10:4,928,030...5,123,578
JBrowse link
G Ptpn22 protein tyrosine phosphatase, non-receptor type 22 ISO
ISS
DNA: snp: cds: rs2476601
OMIM:103230 | OMIM:240200
MouseDO
RGD
PMID:18301444 RGD:6484549 NCBI chr 2:191,366,761...191,414,782
Ensembl chr 2:191,366,808...191,414,779
JBrowse link
G RT1-Bb RT1 class II, locus Bb ISO
ISS
DNA:polymorphism (human)
DNA:repeat (human)
OMIM:103230 | OMIM:240200
MouseDO
RGD
PMID:20455895 PMID:12072047 RGD:5147608, RGD:5147829 NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
JBrowse link
G RT1-Db1 RT1 class II, locus Db1 ISO
ISS
DNA:polymorphisms (human)
OMIM:103230 | OMIM:240200
DNA:polymorphism (human)
MouseDO
RGD
PMID:21816777 PMID:19858318 RGD:5147553, RGD:5147588 NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
JBrowse link
G Vdr vitamin D receptor ISO GAD PMID:15118671 RGD:1331525 NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677
JBrowse link
MIRAGE Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Samd9 sterile alpha motif domain containing 9 ISO ClinVar Annotator: match by term: MIRAGE syndrome OMIM
ClinVar
PMID:16960814 PMID:18094730 PMID:24029230 PMID:25741868 PMID:27182967 More... NCBI chr 4:31,164,639...31,184,325
Ensembl chr 4:31,164,510...31,184,322
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18145
    syndrome 9691
      primary immunodeficiency disease 3832
        autoimmune disease 2293
          Addison's disease 8
            Adrenocortical Hypofunction, Chronic Primary Congenital 0
            MIRAGE Syndrome 1
Path 2
Term Annotations click to browse term
  disease 18145
    disease of anatomical entity 17519
      Immune & Inflammatory Diseases 5182
        immune system disease 4489
          primary immunodeficiency disease 3832
            autoimmune disease 2293
              Addison's disease 8
                Adrenocortical Hypofunction, Chronic Primary Congenital 0
                MIRAGE Syndrome 1
paths to the root