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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:congenital adrenal insufficiency
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Accession:DOID:0050546 term browser browse the term
Definition:An adrenal gland disease that is characterized by cortisol deficiency, hypoaldosteronism and excessive or insufficient sex hormones, has_material_basis_in the mutation in the gene for 21-hydroxylase, 11beta-hydroxylase, 3beta-hydroxysteroid, 17alpha-hydroxylase or 20,22-desmolase. (DO)
Synonyms:exact_synonym: P450scc deficiency;   congenital adrenal insufficiency, with 46,XY sex reversal;   congenital adrenal insufficiency, with 46,XY sex reversal, partial or complete
 primary_id: MESH:C566130
 alt_id: MESH:C566131;   OMIM:613743
For additional species annotation, visit the Alliance of Genome Resources.



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congenital adrenal insufficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp11a1 cytochrome P450, family 11, subfamily a, polypeptide 1 ISO ClinVar Annotator: match by OMIM:613743
ClinVar Annotator: match by term: Congenital Adrenal Insufficiency
ClinVar Annotator: match by term: Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete
OMIM
ClinVar
PMID:11502818 PMID:12161514 PMID:15507506 PMID:16705068 PMID:18182448 More... NCBI chr 8:58,422,807...58,434,342
Ensembl chr 8:58,404,669...58,434,338
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    physical disorder 3103
      congenital adrenal insufficiency 1
Path 2
Term Annotations click to browse term
  disease 17289
    Developmental Disease 10990
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9530
        Congenital Abnormalities 5603
          Urogenital Abnormalities 342
            disorder of sexual development 181
              gonadal dysgenesis 49
                46,XY sex reversal 16
                  congenital adrenal insufficiency 1
paths to the root