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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
For additional species annotation, visit the Alliance of Genome Resources.


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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 NCBI chr  X:54,734,385...54,738,513
Ensembl chr  X:54,734,385...54,738,513
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    physical disorder 2479
      congenital adrenal hyperplasia 19
        Isolated Mineralocorticoid Deficiency 1
Path 2
Term Annotations click to browse term
  disease 16123
    Developmental Diseases 9597
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8441
        Congenital Abnormalities 4761
          Urogenital Abnormalities 255
            disorder of sexual development 151
              Adrenogenital Syndrome 23
                congenital adrenal hyperplasia 19
                  Isolated Mineralocorticoid Deficiency 1
paths to the root