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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:CORTICOSTERONE METHYLOXIDASE TYPE II DEFICIENCY
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Accession:DOID:9008415 term browser browse the term
Definition:This disease is an autosomal recessive disorder caused by a defect in the final biochemical step of aldosterone biosynthesis, the 18-hydroxylation of 18-hydroxycorticosterone (18-OHB) to aldosterone. This enzymatic defect results in decreased aldosterone and salt-wasting associated with an increased serum ratio of 18-OHB to aldosterone. In CMO II deficiency, aldosterone can be low or normal, but at the expense of increased secretion of 18-OHB.
Synonyms:exact_synonym: ALDOSTERONE DEFICIENCY II;   CMO II DEFICIENCY;   FHHA1B;   HYPERRENINEMIC HYPOALDOSTERONISM, FAMILIAL, 1B;   Hypoaldosteronism, congenital, due to CMO II deficiency
 broad_synonym: CYP11B2-RELATED DISORDER;   FAMILIAL HYPOALDOSTERONISM
 primary_id: OMIM:610600


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CORTICOSTERONE METHYLOXIDASE TYPE II DEFICIENCY term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp11b3 cytochrome P450, family 11, subfamily b, polypeptide 3 susceptibility ISO ClinVar Annotator: match by term: CMO II DEFICIENCY | ClinVar Annotator: match by term: CYP11B2-related disorder ClinVar
OMIM		 PMID:1346492 PMID:1594605 PMID:2044581 PMID:7485152 PMID:7792802 More... NCBI chr 7:106,808,559...106,814,048
Ensembl chr 7:106,808,559...106,814,048 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      endocrine system disease 6821
        adrenal gland disease 282
          Adrenal Insufficiency 182
            Hypoaldosteronism 3
              CORTICOSTERONE METHYLOXIDASE TYPE II DEFICIENCY 1
Path 2
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14401
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13418
        genetic disease 13036
          monogenic disease 10421
            autosomal genetic disease 9578
              autosomal recessive disease 6657
                CORTICOSTERONE METHYLOXIDASE TYPE II DEFICIENCY 1
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