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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 21 Hydroxylase Deficiency
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Accession:DOID:9003733 term browser browse the term
Synonyms:exact_synonym: 21 alpha hydroxylase deficiency;   21 hydroxylase deficiency;   Attenuated congenital adrenal hyperplasia;   CLASSIC CONGENITAL ADRENAL HYPERPLASIA DUE TO 21-HYDROXYLASE DEFICIENCY;   CYP21 deficiency;   CYP21A2-RELATED CONDITION;   LOCAH;   Late-onset congenital adrenal hyperplasia;   NCCAH;   adrenal gland hyperplasia III;   adrenal hyperplasia III;   non classic congenital adrenal hyperplasia
 narrow_synonym: CAH1 HYPERANDROGENISM, NONCLASSIC TYPE, DUE TO 21-HYDROXYLASE DEFICIENCY;   CARCINOMA, ADRENOCORTICAL, ANDROGEN-SECRETING;   CONGENITAL ADRENAL HYPERPLASIA 1;   cortisol-producing adenoma
 primary_id: MESH:C535979
 alt_id: OMIM:201910
 xref: NCI:C129302


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Congenital Adrenal Hyperplasia due to 21 Hydroxylase Deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp17a1 cytochrome P450, family 17, subfamily a, polypeptide 1 ISO ClinVar Annotator: match by term: CYP21 deficiency ClinVar PMID:9326943 PMID:9601054 PMID:12466376 PMID:14747197 PMID:25741868 More... NCBI chr 1:245,535,462...245,543,148
Ensembl chr 1:245,535,462...245,541,573 		JBrowse link
G Cyp19a1 cytochrome P450, family 19, subfamily a, polypeptide 1 ISO ClinVar Annotator: match by term: Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency ClinVar PMID:25741868 NCBI chr 8:54,552,978...54,580,375
Ensembl chr 8:54,553,165...54,580,758 		JBrowse link
G Igfals insulin-like growth factor binding protein, acid labile subunit ISO protein:decreased expression:serum RGD PMID:21636299 RGD:12910854 NCBI chr10:13,897,468...13,903,920
Ensembl chr10:13,898,395...13,902,677 		JBrowse link
G Igfbp3 insulin-like growth factor binding protein 3 ISO protein:increased expression:serum RGD PMID:21636299 RGD:12910854 NCBI chr14:82,056,347...82,064,083
Ensembl chr14:82,056,347...82,064,083 		JBrowse link
G Por cytochrome p450 oxidoreductase ISO ClinVar Annotator: match by term: Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency ClinVar PMID:21070833 PMID:24847272 PMID:25741868 PMID:27068427 PMID:27376429 More... NCBI chr12:20,951,058...20,999,198
Ensembl chr12:20,951,058...20,999,245 		JBrowse link
G Tnxb tenascin XB ISO ClinVar Annotator: match by term: Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency ClinVar PMID:1496017 PMID:1644925 PMID:1864962 PMID:2303461 PMID:3038528 More...
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21126
    physical disorder 4953
      congenital adrenal hyperplasia 20
        Congenital Adrenal Hyperplasia due to 21 Hydroxylase Deficiency 6
Path 2
Term Annotations click to browse term
  disease 21126
    Developmental Disease 18448
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18307
        Congenital Abnormalities 7571
          Urogenital Abnormalities 442
            disorder of sexual development 230
              Adrenogenital Syndrome 26
                congenital adrenal hyperplasia 20
                  Congenital Adrenal Hyperplasia due to 21 Hydroxylase Deficiency 6
paths to the root