Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

ONTOLOGY REPORT - ANNOTATIONS


Term:congenital adrenal insufficiency
go back to main search page
Accession:DOID:0050546 term browser browse the term
Definition:An adrenal gland disease that is characterized by cortisol deficiency, hypoaldosteronism and excessive/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: DOID:9007320;   OMIM:613743;   RDO:0014581;   RDO:0014582
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
congenital adrenal insufficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cyp11a1 cytochrome P450, family 11, subfamily a, polypeptide 1 JBrowse link 8 62,798,317 62,809,848 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14924
    Developmental Diseases 7770
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7092
        genetic disease 6457
          congenital adrenal insufficiency 1
Path 2
Term Annotations click to browse term
  disease 14924
    Developmental Diseases 7770
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7092
        Congenital Abnormalities 3188
          Urogenital Abnormalities 233
            sex development disorder 102
              46, XY Disorders of Sex Development 36
                46 XY gonadal dysgenesis 13
                  congenital adrenal insufficiency 1
paths to the root

NHLBI Logo

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