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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:Isolated Mineralocorticoid Deficiency
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Accession:DOID:9003809 term browser browse the term
Synonyms:primary_id: MESH:C567596
 alt_id: RDO:0015638


show annotations for term's descendants           Sort by:
Isolated Mineralocorticoid Deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nr0b1 nuclear receptor subfamily 0, group B, member 1 ISO ClinVar Annotator: match by term: Mineralocorticoid deficiency, isolated ClinVar PMID:17164309 PMID:25741868 PMID:28492532 NCBI chr  X:50,756,886...50,761,014
Ensembl chr  X:50,756,886...50,761,011 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21126
    physical disorder 4952
      congenital adrenal hyperplasia 20
        Isolated Mineralocorticoid Deficiency 1
Path 2
Term Annotations click to browse term
  disease 21126
    Developmental Disease 18447
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18306
        Congenital Abnormalities 7571
          Urogenital Abnormalities 441
            disorder of sexual development 230
              Adrenogenital Syndrome 26
                congenital adrenal hyperplasia 20
                  Isolated Mineralocorticoid Deficiency 1
paths to the root