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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 Hyperplasia due to 11-Beta-Hydroxylase Deficiency
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Accession:DOID:9005925 term browser browse the term
Synonyms:exact_synonym: 11-Beta-hydroxylase deficiency;   11B Hydroxylase Deficiency;   Adrenal Hyperplasia IV;   Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency;   Adrenal Hyperplasia, Hypertensive Form;   Adrenal hyperplasia 4;   Congenital adrenal hyperplasia type 4;   Hypertensive form of adrenal hyperplasia;   P450C11B1 deficiency;   Steroid 11 Beta Hydroxylase Deficiency
 primary_id: MESH:C535978;   RDO:0001372
 alt_id: OMIM:202010


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Congenital Adrenal Hyperplasia due to 11-Beta-Hydroxylase Deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp11b2 cytochrome P450, family 11, subfamily b, polypeptide 2 ISO ClinVar Annotator: match by term: 11-beta-hydroxylase deficiency | ClinVar Annotator: match by term: ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE DEFICIENCY | ClinVar Annotator: match by term: Adrenal hyperplasia hypertensive form | ClinVar Annotator: match by term: Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency | ClinVar Annotator: match by term: P450c11b1 deficiency
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1430088 PMID:2022736 PMID:3295546 PMID:7049883 PMID:7903314 More... NCBI chr 7:106,838,590...106,845,004
Ensembl chr 7:106,838,590...106,845,004 		JBrowse link
G Cyp11b3 cytochrome P450, family 11, subfamily b, polypeptide 3 ISO ClinVar Annotator: match by term: P450c11b1 deficiency ClinVar PMID:11549691 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
    physical disorder 4965
      congenital adrenal hyperplasia 21
        Congenital Adrenal Hyperplasia due to 11-Beta-Hydroxylase Deficiency 2
Path 2
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14398
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13415
        Congenital Abnormalities 7577
          Urogenital Abnormalities 445
            disorder of sexual development 233
              Adrenogenital Syndrome 27
                congenital adrenal hyperplasia 21
                  Congenital Adrenal Hyperplasia due to 11-Beta-Hydroxylase Deficiency 2
paths to the root