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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 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 OMIM:610600
ClinVar Annotator: match by OMIM:203400
ClinVar Annotator: match by term: STEROID 18-OXIDASE DEFICIENCY
ClinVar Annotator: match by term: STEROID 18-HYDROXYLASE DEFICIENCY
ClinVar Annotator: match by term: Corticosterone methyloxidase type 1 deficiency
ClinVar Annotator: match by term: 18 alpha hydroxylase deficiency
OMIM
ClinVar
PMID:1594605, PMID:2044581, PMID:8439335, PMID:8530633, PMID:8954040, PMID:9177280, PMID:9360501, PMID:9625333, PMID:9703385, PMID:9814506, PMID:10965212, PMID:11174838, PMID:11238478, PMID:11549691, PMID:12788848, PMID:14250395, PMID:15240589, PMID:16118341, PMID:18710464, PMID:21237269, PMID:22465514, PMID:22565077, PMID:22931312, PMID:24033266, PMID:25102047, PMID:28492532 NCBI chr 7:116,155,928...116,161,781
Ensembl chr 7:116,156,219...116,255,167
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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
            Hypoaldosteronism 3
              corticosterone methyloxidase deficiency 1 1
Path 2
Term Annotations click to browse term
  disease 16108
    Developmental Diseases 9509
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8365
        genetic disease 7848
          monogenic disease 5627
            autosomal genetic disease 4631
              autosomal recessive disease 2512
                corticosterone methyloxidase deficiency 1 1
paths to the root

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