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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

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congenital adrenal insufficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC102014960 cholesterol side-chain cleavage enzyme, mitochondrial ISO ClinVar Annotator: match by term: Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete | ClinVar Annotator: match by term: Congenital Adrenal Insufficiency | ClinVar Annotator: match by term: P450scc DEFICIENCY OMIM
ClinVar		 PMID:9536098 PMID:11502818 PMID:12161514 PMID:15507506 PMID:16705068 More... NCBI chrNW_004955450:3,433,310...3,484,462
Ensembl chrNW_004955450:3,474,491...3,484,232 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    physical disorder 4597
      congenital adrenal insufficiency 1
Path 2
Term Annotations click to browse term
  disease 16063
    Developmental Disease 15996
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 15949
        Congenital Abnormalities 6946
          Urogenital Abnormalities 409
            disorder of sexual development 213
              gonadal dysgenesis 53
                46,XY sex reversal 17
                  congenital adrenal insufficiency 1
paths to the root