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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
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Accession:DOID:0050811 term browser browse the term
Definition:A steroid inherited metabolic disorder that is characterized by adrenal insufficiency and variable degrees of hyper or hypo androgeny manifestations resulting from steroidogenic enzyme deficiency. (DO)
Synonyms:exact_synonym: adrenal hypoplasia congenita;   congenital adrenal hyperplasias;   congenital lipoid adrenal hyperplasia;   lipoid CAH
 primary_id: MESH:D000312
 xref: GARD:1465;   GARD:1467;   ICD10CM:E25;   ICD9CM:255.2;   ORDO:418
For additional species annotation, visit the Alliance of Genome Resources.



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congenital adrenal hyperplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Avpr1a arginine vasopressin receptor 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:17218722 NCBI chr 7:58,114,306...58,118,230
Ensembl chr 7:58,114,284...58,122,215
JBrowse link
G Avpr2 arginine vasopressin receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17218722 NCBI chr  X:151,633,501...151,636,000
Ensembl chr  X:151,633,522...151,635,989
JBrowse link
G Cyp11a1 cytochrome P450, family 11, subfamily a, polypeptide 1 ISO DNA:splice-site mutation RGD PMID:12161514 RGD:1599693 NCBI chr 8:58,422,807...58,434,342
Ensembl chr 8:58,404,669...58,434,338
JBrowse link
G Cyp11b1 cytochrome P450, family 11, subfamily b, polypeptide 1 ISO 11-beta-hydroxylase deficiency, OMIM:202010; DNA:mutations:multiple (human)
DNA:frameshift mutation:cds:p.394fsX469 (human)
RGD PMID:8964882 PMID:1430088 RGD:1600799, RGD:734864 NCBI chr 7:106,772,597...106,780,536
Ensembl chr 7:106,718,274...106,779,278
JBrowse link
G Cyp11b3 cytochrome P450, family 11, subfamily b, polypeptide 3 ISS OMIM:201710 | OMIM:201810 | OMIM:201910 | OMIM:202010 | OMIM:202110 MouseDO NCBI chr 7:106,808,559...106,814,048
Ensembl chr 7:106,808,559...106,814,048
JBrowse link
G Cyp17a1 cytochrome P450, family 17, subfamily a, polypeptide 1 ISO DNA:mutations:cds:multiple (human)
ClinVar Annotator: match by term: Congenital adrenal hyperplasia
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:18645707 PMID:19636199 PMID:2026124 RGD:4889141 NCBI chr 1:245,535,462...245,543,148
Ensembl chr 1:245,535,462...245,541,573
JBrowse link
G Cyp21a1 cytochrome P450, family 21, subfamily a, polypeptide 1 ISO DNA:mutations:cds:multiple (human) RGD PMID:12930931 RGD:4889127 NCBI chr20:4,020,217...4,026,923
Ensembl chr20:4,023,767...4,026,923
JBrowse link
G Hsd3b2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital adrenal hyperplasia
CTD
ClinVar
PMID:18252794 NCBI chr 2:186,095,897...186,105,354
Ensembl chr 2:186,095,897...186,101,852
JBrowse link
G Htr4 5-hydroxytryptamine receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17218722 NCBI chr18:55,765,981...55,949,921
Ensembl chr18:55,766,725...55,949,321
JBrowse link
G Pde8b phosphodiesterase 8B ISO CTD Direct Evidence: marker/mechanism CTD PMID:18272904 NCBI chr 2:26,275,117...26,479,725
Ensembl chr 2:26,276,635...26,509,209
JBrowse link
G Por cytochrome p450 oxidoreductase ISO DNA:missense mutations:cds:p.A287P, p.H628P (human)
ClinVar Annotator: match by term: Congenital adrenal hyperplasia
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:14758361 PMID:15220035 PMID:15350602 PMID:15793702 PMID:17635179 More... RGD:4889128 NCBI chr12:20,951,058...20,999,198
Ensembl chr12:20,951,058...20,999,245
JBrowse link
G Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:15521956 NCBI chr10:94,621,042...94,639,534
Ensembl chr10:94,620,039...94,639,041
JBrowse link
G Ren renin ISO protein:increased expression:blood serum (human) RGD PMID:31505456 RGD:125097501 NCBI chr13:44,796,260...44,807,491
Ensembl chr13:44,796,091...44,807,489
JBrowse link
G Star steroidogenic acute regulatory protein susceptibility ISO
ISS
DNA:transversion:intron:g.IVS4-11T>A (human)
ClinVar Annotator: match by term: Lipoid CAH
ClinVar Annotator: match by term: Congenital adrenal hyperplasia
OMIM:201710 | OMIM:201810 | OMIM:201910 | OMIM:202010 | OMIM:202110
ClinVar
MouseDO
RGD
PMID:7892608 PMID:8634702 PMID:8943003 PMID:8948562 PMID:9077535 More... RGD:1600070, RGD:4145592 NCBI chr16:66,267,094...66,274,368
Ensembl chr16:66,264,807...66,271,672
JBrowse link
G Tnxb tenascin XB ISO ClinVar Annotator: match by term: Congenital adrenal hyperplasia ClinVar PMID:1864962 PMID:3038528 PMID:24033266 PMID:25741868 PMID:26467025
17,20-Lyase Deficiency, Isolated term browser
Symbol Object Name Qualifiers 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: Isolated 17,20-lyase deficiency
ClinVar Annotator: match by term: Complete combined 17-alpha-hydroxylase/17,20-lyase deficiency
ClinVar Annotator: match by term: Combined partial 17-alpha-hydroxylase/17,20-lyase deficiency
ClinVar PMID:1577471 PMID:1621662 PMID:1714904 PMID:1740503 PMID:2335573 More... NCBI chr 1:245,535,462...245,543,148
Ensembl chr 1:245,535,462...245,541,573
JBrowse link
Adrenal Hyperplasia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hsd3b2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 ISO ClinVar Annotator: match by term: 3 beta-Hydroxysteroid dehydrogenase deficiency
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:201810
OMIM
ClinVar
CTD
PMID:295036 PMID:1196451 PMID:1363812 PMID:1825279 PMID:2755580 More... NCBI chr 2:186,095,897...186,105,354
Ensembl chr 2:186,095,897...186,101,852
JBrowse link
Congenital Adrenal Hyperplasia due to 21 Hydroxylase Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 8:54,553,165...54,580,758
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:28492532 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: 21-hydroxylase deficiency
ClinVar Annotator: match by term: Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
ClinVar PMID:1496017 PMID:1864962 PMID:2303461 PMID:3038528 PMID:3267225 More...
Congenital Adrenal Hyperplasia, Type 5 term browser
Symbol Object Name Qualifiers 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: ADRENAL HYPERPLASIA V
ClinVar Annotator: match by term: 17-ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, COMBINED COMPLETE
ClinVar Annotator: match by term: Congenital adrenal hyperplasia type 5
OMIM
ClinVar
PMID:1577471 PMID:1621662 PMID:1714904 PMID:1740503 PMID:2786493 More... NCBI chr 1:245,535,462...245,543,148
Ensembl chr 1:245,535,462...245,541,573
JBrowse link
IMAGEI Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pole DNA polymerase epsilon, catalytic subunit ISO ClinVar Annotator: match by term: INTRAUTERINE GROWTH RETARDATION, METAPHYSEAL DYSPLASIA, ADRENAL HYPOPLASIA CONGENITA, GENITAL ANOMALIES, AND IMMUNODEFICIENCY ClinVar
OMIM
PMID:14760276 PMID:16835919 PMID:23263490 PMID:23447401 PMID:24033266 More... NCBI chr12:46,345,420...46,393,984
Ensembl chr12:46,345,420...46,393,939
JBrowse link
Isolated Mineralocorticoid Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nr0b1 nuclear receptor subfamily 0, group B, member 1 ISO ClinVar Annotator: match by term: Mineralocorticoid deficiency, isolated ClinVar PMID:17164309 NCBI chr  X:50,756,886...50,761,014
Ensembl chr  X:50,756,886...50,761,011
JBrowse link
Lipoid Congenital Adrenal Hyperplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp11a1 cytochrome P450, family 11, subfamily a, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11502818 NCBI chr 8:58,422,807...58,434,342
Ensembl chr 8:58,404,669...58,434,338
JBrowse link
G Star steroidogenic acute regulatory protein ISO ClinVar Annotator: match by term: Lipoid hyperplasia congenital of adrenal cortex with male pseudohermaphroditism
ClinVar Annotator: match by term: ADRENAL HYPERPLASIA I
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:201710
OMIM
ClinVar
CTD
PMID:7892608 PMID:8634702 PMID:8943003 PMID:8948562 PMID:9077535 More... NCBI chr16:66,267,094...66,274,368
Ensembl chr16:66,264,807...66,271,672
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    physical disorder 3103
      congenital adrenal hyperplasia 20
        Adrenal Hyperplasia 2 1
        Congenital Adrenal Hyperplasia due to 11-Beta-Hydroxylase Deficiency 0
        Congenital Adrenal Hyperplasia due to 21 Hydroxylase Deficiency 5
        Congenital Adrenal Hyperplasia, Type 5 + 1
        Congenital Adrenal Hypoplasia with Absent Pituitary Luteinizing Hormone 0
        Congenital Adrenal Hypoplasia with Precocious Puberty 0
        IMAGEI Syndrome 1
        Isolated Mineralocorticoid Deficiency 1
        Lipoid Congenital Adrenal Hyperplasia 2
Path 2
Term Annotations click to browse term
  disease 17289
    Developmental Disease 10990
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9530
        Congenital Abnormalities 5603
          Urogenital Abnormalities 342
            disorder of sexual development 181
              Adrenogenital Syndrome 24
                congenital adrenal hyperplasia 20
                  Adrenal Hyperplasia 2 1
                  Congenital Adrenal Hyperplasia due to 11-Beta-Hydroxylase Deficiency 0
                  Congenital Adrenal Hyperplasia due to 21 Hydroxylase Deficiency 5
                  Congenital Adrenal Hyperplasia, Type 5 + 1
                  Congenital Adrenal Hypoplasia with Absent Pituitary Luteinizing Hormone 0
                  Congenital Adrenal Hypoplasia with Precocious Puberty 0
                  IMAGEI Syndrome 1
                  Isolated Mineralocorticoid Deficiency 1
                  Lipoid Congenital Adrenal Hyperplasia 2
paths to the root