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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 chr 2:144,822,937...144,956,451
Ensembl chr 2:144,822,937...144,956,095
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 chr 3:91,607,236...91,775,255
Ensembl chr 3:91,607,305...91,774,683
JBrowse link
G MRPS22 mitochondrial ribosomal protein S22 ISO ClinVar Annotator: match by term: 46,XX gonadal dysgenesis ClinVar PMID:29566152 NCBI chr13:80,006,656...80,232,107
Ensembl chr13:79,981,676...80,232,774
JBrowse link
G NR5A1 nuclear receptor subfamily 5 group A member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19246354 NCBI chr 1:265,284,491...265,311,547
Ensembl chr 1:265,284,493...265,311,417
JBrowse link
46,XX sex reversal 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SRY sex determining region Y ISO OMIM NCBI chr  Y:40,484,990...40,485,700
Ensembl chr  Y:40,484,990...40,485,700
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 chr12:8,642,154...8,647,315
Ensembl chr12:8,642,158...8,647,315
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 chr 1:265,284,491...265,311,547
Ensembl chr 1:265,284,493...265,311,417
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 chr 7:83,076,119...83,090,250
Ensembl chr 7:83,076,144...83,090,536
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 chr13:80,006,656...80,232,107
Ensembl chr13:79,981,676...80,232,774
JBrowse link
G WNT4 Wnt family member 4 ISO OMIM NCBI chr 6:80,110,238...80,138,165 JBrowse link
aromatase excess syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CYP19A1 cytochrome P450 family 19 subfamily A member 1 ISO OMIM NCBI chr 1:120,596,235...120,627,806
Ensembl chr 1:120,367,667...120,695,899
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 CTD Direct Evidence: marker/mechanism
DNA:point mutation:CDS:p.R453Q (human)
CTD
RGD
PMID:12858176 RGD:1625067 NCBI chr 6:69,666,348...69,700,303
Ensembl chr 6:69,666,600...69,714,463
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 chr 9:133,231,451...133,278,396
Ensembl chr 9:133,231,451...133,278,396
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 chr 6:69,666,348...69,700,303
Ensembl chr 6:69,666,600...69,714,463
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 chr 9:133,231,451...133,278,396
Ensembl chr 9:133,231,451...133,278,396
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 chr 2:123,313,445...123,401,386
Ensembl chr 2:123,313,448...123,402,731
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 chr 2:123,313,445...123,401,386
Ensembl chr 2:123,313,448...123,402,731
JBrowse link
G PRORP protein only RNase P catalytic subunit ISO ClinVar Annotator: match by term: Perrault syndrome 1 ClinVar NCBI chr 7:64,620,514...64,763,272
Ensembl chr 7:64,578,241...64,763,281
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 chr15:105,971,577...106,132,496
Ensembl chr15:105,970,427...106,135,730
JBrowse link
G IL6ST interleukin 6 cytokine family signal transducer resistance ISO DNA:polymorphism:cds:p148G>R RGD PMID:12917504 RGD:1625428 NCBI chr16:35,101,304...35,151,832
Ensembl chr16:35,101,304...35,211,982
JBrowse link
G PPARG peroxisome proliferator activated receptor gamma ISO mRNA, protein:increased expression:ovary follicle (rat) RGD PMID:20813360 RGD:8553031 NCBI chr13:68,301,566...68,433,951
Ensembl chr13:68,302,655...68,433,947
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 CYP21A1 cytochrome P450 family 21 subfamily A member 1 ISO ClinVar Annotator: match by term: Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency ClinVar PMID:12050257 NCBI chr 7:24,086,138...24,089,364
Ensembl chr 7:24,086,217...24,089,374
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 chr  X:53,609,113...53,806,778
Ensembl chr  X:53,609,176...53,805,578
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 chr 6:106,545,882...106,693,711
Ensembl chr 6:106,419,943...106,691,646
JBrowse link
G WNT4 Wnt family member 4 ISO ClinVar Annotator: match by term: Rokitansky Kuster Hauser syndrome ClinVar PMID:25741868 NCBI chr 6:80,110,238...80,138,165 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 chr 6:80,110,238...80,138,165 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 chr 3:91,607,236...91,775,255
Ensembl chr 3:91,607,305...91,774,683
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 chr  X:44,613,122...44,620,575
Ensembl chr  X:44,613,122...44,620,575
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 chr12:20,249,760...20,257,543
Ensembl chr12:20,249,761...20,257,511
JBrowse link
G NRXN1 neurexin 1 ISO ClinVar Annotator: match by term: Ovarian dysgenesis 3 ClinVar NCBI chr 3:89,799,426...90,914,205
Ensembl chr 3:89,799,543...90,914,205
JBrowse link
G PSMC3IP PSMC3 interacting protein ISO OMIM NCBI chr12:20,244,243...20,250,151
Ensembl chr12:20,244,298...20,250,162
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 chr 1:43,171,906...43,268,533 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
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 chr 5:32,989,661...33,040,565
Ensembl chr 5:32,989,794...33,042,575
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 chr13:80,006,656...80,232,107
Ensembl chr13:79,981,676...80,232,774
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 chr 1:193,823,666...193,907,330
Ensembl chr 1:193,722,164...193,906,565
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 chr 6:93,664,839...93,690,328
Ensembl chr 6:93,665,138...93,685,197
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 chr 6:93,664,839...93,690,328
Ensembl chr 6:93,665,138...93,685,197
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13599
    disease of anatomical entity 13257
      endocrine system disease 4994
        gonadal disease 965
          disorder of sexual development 146
            46, XX Disorders of Sex Development 28
              46 XX gonadal dysgenesis + 15
              46,XX sex reversal + 7
              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 13599
    Developmental Disease 10224
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8814
        Congenital Abnormalities 5337
          Urogenital Abnormalities 300
            disorder of sexual development 146
              46, XX Disorders of Sex Development 28
                46 XX gonadal dysgenesis + 15
                46,XX sex reversal + 7
                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