Send us a Message



 Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap)  (beta) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer) Overgo Probe Designer
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease COVID-19 Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models PhenoMiner (Quantitative Phenotypes) Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes GERRC (Gene Editing Rat Resource Center) Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Poster Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

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
go back to main search page
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.


show annotations for term's descendants           Sort by:
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 DNA: snp: cds: rs2476601 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 DNA:polymorphism (human)
DNA:repeat (human)		 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 DNA:polymorphisms (human)
DNA:polymorphism (human)		 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 21089
    syndrome 10784
      primary immunodeficiency disease 4108
        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 21089
    disease of anatomical entity 18156
      endocrine system disease 6707
        adrenal gland disease 278
          adrenal cortex disease 96
            adrenal cortical hypofunction 18
              Addison's disease 8
                Adrenocortical Hypofunction, Chronic Primary Congenital 0
                MIRAGE Syndrome 1
paths to the root