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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 deficiency 1
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Accession:DOID:0080626 term browser browse the term
Definition:An adrenal gland disease that is characterized by excessive amounts of sodium released in the urine, along with insufficient release of potassium in the urine, usually beginning in the first few weeks of life. (DO)
Synonyms:exact_synonym: 18-alpha hydroxylase deficiency;   18-hydroxylase deficiency;   18-oxidase deficiency;   ALDOSTERONE DEFICIENCY DUE TO DEFECT IN STEROID 18-HYDROXYLASE;   ALDOSTERONE DEFICIENCY DUE TO DEFICIENCY OF STEROID 18-OXIDASE;   ALDOSTERONE DEFICIENCY I;   ALDOSTERONE DEFICIENCY II;   Aldosterone Deficiency Type I;   Aldosterone Deficiency Type II;   Aldosterone deficiency 1;   Aldosterone deficiency due to defect in 18-hydroxylase;   CMO I Deficiency;   CMO II Deficiency;   CORTICOSTERONE 18-MONOOXYGENASE DEFICIENCY;   CORTICOSTERONE METHYL OXIDASE TYPE II DEFICIENCY;   Corticosterone Methyloxidase Type I Deficiency;   Corticosterone Methyloxidase Type II Deficiency;   Corticosterone methyloxidase type 1 deficiency;   FHHA1A;   FHHA1B;   HYPERRENINEMIC HYPOALDOSTERONISM, FAMILIAL, 1;   Hyperreninemic Hypoaldosteronism, Familial, Type I;   aldosterone synthase deficiency;   steroid 18-hydroxylase deficiency;   steroid 18-oxidase deficiency
 primary_id: MESH:C537806
 alt_id: OMIM:203400;   OMIM:610600
 xref: ORDO:427
For additional species annotation, visit the Alliance of Genome Resources.



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corticosterone methyloxidase deficiency 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp11b3 cytochrome P450, family 11, subfamily b, polypeptide 3 ISO ClinVar Annotator: match by term: 18 alpha hydroxylase deficiency | ClinVar Annotator: match by term: Corticosterone 18-monooxygenase deficiency | ClinVar Annotator: match by term: Corticosterone methyl oxidase type II deficiency | ClinVar Annotator: match by term: Corticosterone methyloxidase type 1 deficiency | ClinVar Annotator: match by term: STEROID 18-HYDROXYLASE DEFICIENCY | ClinVar Annotator: match by term: STEROID 18-OXIDASE DEFICIENCY OMIM
ClinVar
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
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18156
    disease of anatomical entity 17531
      endocrine system disease 6295
        adrenal gland disease 255
          Adrenal Insufficiency 158
            Hypoaldosteronism 3
              corticosterone methyloxidase deficiency 1 1
Path 2
Term Annotations click to browse term
  disease 18156
    Developmental Disease 12940
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11670
        genetic disease 11174
          monogenic disease 8709
            autosomal genetic disease 7745
              autosomal recessive disease 4832
                corticosterone methyloxidase deficiency 1 1
paths to the root