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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:46, XX Disorders of Sex Development
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Accession:DOID:9005851 term browser browse the term
Definition:Congenital conditions in individuals with a female karyotype, in which the development of the gonadal or anatomical sex is atypical.
Synonyms:exact_synonym: 46,XX DSD;   female pseudohermaphroditism;   female pseudohermaphroditisms
 primary_id: MESH:D058489
For additional species annotation, visit the Alliance of Genome Resources.


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46, XX Disorders of Sex Development term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nr3c1 nuclear receptor subfamily 3 group C member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11932321 NCBI chrNW_004955415:10,494,704...10,585,778
Ensembl chrNW_004955415:10,494,640...10,586,221
JBrowse link
46 XX gonadal dysgenesis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fshr follicle stimulating hormone receptor ISO DNA:point mutation:exon:A189V RGD PMID:7553856 RGD:1601232 NCBI chrNW_004955441:15,422,190...15,585,446
Ensembl chrNW_004955441:15,422,190...15,585,537
JBrowse link
G Mrps22 mitochondrial ribosomal protein S22 ISO ClinVar Annotator: match by term: 46,XX gonadal dysgenesis ClinVar PMID:29566152 NCBI chrNW_004955508:6,232,514...6,246,593
Ensembl chrNW_004955508:6,232,514...6,246,633
JBrowse link
G Nr5a1 nuclear receptor subfamily 5 group A member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19246354 NCBI chrNW_004955419:3,632,248...3,654,367
Ensembl chrNW_004955419:3,632,220...3,654,375
JBrowse link
46,XX sex reversal 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sox9 SRY-box transcription factor 9 ISO OMIM NCBI chrNW_004955478:941,684...945,563
Ensembl chrNW_004955478:940,177...945,563
JBrowse link
46,XX sex reversal 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nr5a1 nuclear receptor subfamily 5 group A member 1 ISO OMIM NCBI chrNW_004955419:3,632,248...3,654,367
Ensembl chrNW_004955419:3,632,220...3,654,375
JBrowse link
46,XX sex reversal 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nr2f2 nuclear receptor subfamily 2 group F member 2 ISO OMIM NCBI chrNW_004955416:24,148,052...24,154,406
Ensembl chrNW_004955416:24,141,888...24,168,585
JBrowse link
46,XX Sex Reversal with Dysgenesis of Kidneys, Adrenals, and Lungs term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mrps22 mitochondrial ribosomal protein S22 ISO ClinVar Annotator: match by term: 46,XX gonadal dysgenesis ClinVar PMID:29566152 NCBI chrNW_004955508:6,232,514...6,246,593
Ensembl chrNW_004955508:6,232,514...6,246,633
JBrowse link
G Wnt4 Wnt family member 4 ISO OMIM NCBI chrNW_004955452:2,319,446...2,344,740
Ensembl chrNW_004955452:2,319,446...2,344,989
JBrowse link
aromatase excess syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC102023780 aromatase ISO OMIM NCBI chrNW_004955409:3,198,622...3,313,072
Ensembl chrNW_004955409:3,266,233...3,313,142
JBrowse link
cortisone reductase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H6pd hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase ISO DNA:point mutation:CDS:p.R453Q (human)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:12858176 RGD:1625067 NCBI chrNW_004955486:4,088,354...4,115,077
Ensembl chrNW_004955486:4,022,306...4,115,077
JBrowse link
G Hsd11b1 hydroxysteroid 11-beta dehydrogenase 1 ISO DNA:insertion,transversion:intron:86557insA, 83597T>G (human)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:12858176 PMID:25526675 RGD:1625067 NCBI chrNW_004955489:2,500,928...2,524,715
Ensembl chrNW_004955489:2,497,680...2,524,805
JBrowse link
cortisone reductase deficiency 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H6pd hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase ISO OMIM NCBI chrNW_004955486:4,088,354...4,115,077
Ensembl chrNW_004955486:4,022,306...4,115,077
JBrowse link
cortisone reductase deficiency 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hsd11b1 hydroxysteroid 11-beta dehydrogenase 1 ISO OMIM NCBI chrNW_004955489:2,500,928...2,524,715
Ensembl chrNW_004955489:2,497,680...2,524,805
JBrowse link
D-bifunctional protein deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hsd17b4 hydroxysteroid 17-beta dehydrogenase 4 severity ISO DNA:mutations:multiple (human) OMIM
RGD
PMID:16385454 RGD:10411884 NCBI chrNW_004955408:39,041,028...39,136,867
Ensembl chrNW_004955408:39,040,840...39,138,338
JBrowse link
Gonadal Dysgenesis, XX Type, with Deafness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hsd17b4 hydroxysteroid 17-beta dehydrogenase 4 ISO OMIM NCBI chrNW_004955408:39,041,028...39,136,867
Ensembl chrNW_004955408:39,040,840...39,138,338
JBrowse link
G Prorp protein only RNase P catalytic subunit ISO ClinVar Annotator: match by term: Perrault syndrome 1 ClinVar NCBI chrNW_004955409:25,791,209...25,920,651 JBrowse link
hyperandrogenism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmpr2 bone morphogenetic protein receptor type 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22825968 NCBI chrNW_004955457:12,235,780...12,315,680
Ensembl chrNW_004955457:12,235,780...12,316,727
JBrowse link
G Il6st interleukin 6 cytokine family signal transducer resistance ISO DNA:polymorphism:cds:p148G>R RGD PMID:12917504 RGD:1625428 NCBI chrNW_004955446:11,790,636...11,837,734
Ensembl chrNW_004955446:11,790,444...11,835,001
JBrowse link
G Pparg peroxisome proliferator activated receptor gamma ISO mRNA, protein:increased expression:ovary follicle (rat) RGD PMID:20813360 RGD:8553031 NCBI chrNW_004955429:14,814,690...14,936,869
Ensembl chrNW_004955429:14,873,908...14,937,387
JBrowse link
Hyperandrogenism, Nonclassic Type, due to 21-Hydroxylase Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC102008255 steroid 21-hydroxylase ISO ClinVar Annotator: match by term: Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency ClinVar PMID:12050257 NCBI chrNW_004955437:513,052...516,792
Ensembl chrNW_004955437:513,052...516,792
JBrowse link
Mayer-Rokitansky-Kuster-Hauser syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ar androgen receptor ISO ClinVar Annotator: match by term: Aplasia of the uterus ClinVar PMID:25741868 NCBI chrNW_004955475:7,013,960...7,192,473
Ensembl chrNW_004955475:7,013,960...7,186,069
JBrowse link
G Greb1l GREB1 like retinoic acid receptor coactivator ISO ClinVar Annotator: match by term: Rokitansky Kuster Hauser syndrome ClinVar PMID:25741868 PMID:32378186 NCBI chrNW_004955402:9,865,934...10,204,990
Ensembl chrNW_004955402:10,104,225...10,201,479
JBrowse link
G Wnt4 Wnt family member 4 ISO ClinVar Annotator: match by term: Rokitansky Kuster Hauser syndrome ClinVar PMID:25741868 NCBI chrNW_004955452:2,319,446...2,344,740
Ensembl chrNW_004955452:2,319,446...2,344,989
JBrowse link
Mullerian aplasia and hyperandrogenism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wnt4 Wnt family member 4 ISO OMIM NCBI chrNW_004955452:2,319,446...2,344,740
Ensembl chrNW_004955452:2,319,446...2,344,989
JBrowse link
ovarian dysgenesis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fshr follicle stimulating hormone receptor ISO OMIM NCBI chrNW_004955441:15,422,190...15,585,446
Ensembl chrNW_004955441:15,422,190...15,585,537
JBrowse link
ovarian dysgenesis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmp15 bone morphogenetic protein 15 ISO OMIM NCBI chrNW_004955543:2,304,112...2,345,376 JBrowse link
ovarian dysgenesis 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mlx MAX dimerization protein MLX ISO ClinVar Annotator: match by term: Ovarian dysgenesis 3 ClinVar PMID:31042289 NCBI chrNW_004955451:16,460,737...16,464,529
Ensembl chrNW_004955451:16,459,879...16,464,529
JBrowse link
G Nrxn1 neurexin 1 ISO ClinVar Annotator: match by term: Ovarian dysgenesis 3 ClinVar NCBI chrNW_004955441:16,230,977...17,178,003
Ensembl chrNW_004955441:16,234,070...17,178,005
JBrowse link
G Psmc3ip PSMC3 interacting protein ISO OMIM NCBI chrNW_004955451:16,464,233...16,467,896
Ensembl chrNW_004955451:16,464,233...16,467,896
JBrowse link
ovarian dysgenesis 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mcm9 minichromosome maintenance 9 homologous recombination repair factor ISO OMIM NCBI chrNW_004955436:1,642,337...1,661,362 JBrowse link
ovarian dysgenesis 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sohlh1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 ISO OMIM NCBI chrNW_004955513:4,767,591...4,771,654 JBrowse link
ovarian dysgenesis 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nup107 nucleoporin 107 ISO OMIM NCBI chrNW_004955458:15,148,773...15,201,717
Ensembl chrNW_004955458:15,149,054...15,201,635
JBrowse link
ovarian dysgenesis 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mrps22 mitochondrial ribosomal protein S22 ISO OMIM NCBI chrNW_004955508:6,232,514...6,246,593
Ensembl chrNW_004955508:6,232,514...6,246,633
JBrowse link
ovarian dysgenesis 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Esr2 estrogen receptor 2 ISO OMIM NCBI chrNW_004955466:5,587,003...5,644,765
Ensembl chrNW_004955466:5,575,088...5,638,946
JBrowse link
Palmoplantar Hyperkeratosis and True Hermaphroditism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rspo1 R-spondin 1 ISO ClinVar Annotator: match by term: Palmoplantar hyperkeratosis and true hermaphroditism ClinVar PMID:18085567 NCBI chrNW_004955452:15,415,417...15,435,616
Ensembl chrNW_004955452:15,415,932...15,435,656
JBrowse link
Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and Sex Reversal term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rspo1 R-spondin 1 ISO OMIM NCBI chrNW_004955452:15,415,417...15,435,616
Ensembl chrNW_004955452:15,415,932...15,435,656
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12680
    disease of anatomical entity 12357
      endocrine system disease 4619
        gonadal disease 939
          disorder of sexual development 143
            46, XX Disorders of Sex Development 27
              46 XX gonadal dysgenesis + 14
              46,XX sex reversal + 6
              Female Pseudohermaphroditism with Skeletal Anomalies 0
              Mayer-Rokitansky-Kuster-Hauser syndrome + 3
              Michels Caskey Syndrome 0
              aromatase excess syndrome 1
              cortisone reductase deficiency + 2
              hyperandrogenism + 5
Path 2
Term Annotations click to browse term
  disease 12680
    Developmental Disease 9607
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8356
        Congenital Abnormalities 5087
          Urogenital Abnormalities 291
            disorder of sexual development 143
              46, XX Disorders of Sex Development 27
                46 XX gonadal dysgenesis + 14
                46,XX sex reversal + 6
                Female Pseudohermaphroditism with Skeletal Anomalies 0
                Mayer-Rokitansky-Kuster-Hauser syndrome + 3
                Michels Caskey Syndrome 0
                aromatase excess syndrome 1
                cortisone reductase deficiency + 2
                hyperandrogenism + 5
paths to the root