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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;   MESH:C566131
 alt_id: 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, PMID:19116240, PMID:21159840, PMID:24033266, PMID:25741868, PMID:26300845, PMID:27008691, PMID:28492532 NCBI chr 8:62,798,317...62,809,848
Ensembl chr 8:62,779,875...62,809,893
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      endocrine system disease 4988
        adrenal gland disease 175
          Adrenal Insufficiency 98
            congenital adrenal insufficiency 1
Path 2
Term Annotations click to browse term
  disease 16108
    Developmental Diseases 9509
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8365
        Congenital Abnormalities 4791
          Urogenital Abnormalities 286
            disorder of sexual development 182
              46, XY Disorders of Sex Development 42
                46,XY sex reversal 16
                  congenital adrenal insufficiency 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.