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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_004936504:10,960,069...11,056,834 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 ClinVar Annotator: match by term: Ovarian dysgenesis ClinVar NCBI chrNW_004936508:3,601,205...3,754,234 JBrowse link
G Mrps22 mitochondrial ribosomal protein S22 ISO ClinVar Annotator: match by term: 46 XX gonadal dysgenesis ClinVar PMID:28492532 PMID:29566152 NCBI chrNW_004936540:1,451,882...1,466,569 JBrowse link
G Nr5a1 nuclear receptor subfamily 5 group A member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19246354 NCBI chrNW_004936487:12,739,445...12,763,729 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 ClinVar Annotator: match by term: 46,XX sex reversal 2 OMIM
ClinVar		 PMID:21208124 PMID:22051515 NCBI chrNW_004936655:1,849,044...1,852,648 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 ClinVar Annotator: match by term: 46,XX sex reversal 4 OMIM
ClinVar		 PMID:11932325 PMID:22549935 PMID:25741868 PMID:26523528 PMID:27378692 More... NCBI chrNW_004936487:12,739,445...12,763,729 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 ClinVar Annotator: match by term: 46,xx sex reversal 5 OMIM
ClinVar		 PMID:27363585 PMID:29478779 NCBI chrNW_004936483:6,886,447...6,900,986 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:28492532 PMID:29566152 NCBI chrNW_004936540:1,451,882...1,466,569 JBrowse link
G Wnt4 Wnt family member 4 ISO ClinVar Annotator: match by term: SERKAL syndrome OMIM
ClinVar		 PMID:18179883 PMID:25741868 NCBI chrNW_004936474:7,623,462...7,635,416 JBrowse link
aromatase excess 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: Gynecomastia, familial ClinVar PMID:16804045 NCBI chrNW_004936635:485,903...647,820 JBrowse link
G LOC101954950 aromatase ISO ClinVar Annotator: match by term: Aromatase deficiency | ClinVar Annotator: match by term: Aromatase excess syndrome OMIM
ClinVar		 PMID:1496995 PMID:1825497 PMID:2973313 PMID:8265607 PMID:8530621 More... NCBI chrNW_004936471:13,107,603...13,136,910 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_004936623:3,359,624...3,376,598 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_004936557:3,358,809...3,403,461 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 ClinVar Annotator: match by term: Cortisone reductase deficiency 1 OMIM
ClinVar		 PMID:10522997 PMID:11150889 PMID:12858176 PMID:15827106 PMID:16091483 More... NCBI chrNW_004936623:3,359,624...3,376,598 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 ClinVar Annotator: match by term: Cortisone reductase deficiency 2 OMIM
ClinVar		 PMID:21325058 PMID:25741868 NCBI chrNW_004936557:3,358,809...3,403,461 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_004936726:1,543,263...1,711,422 JBrowse link
G Il6st interleukin 6 cytokine family signal transducer resistance ISO DNA:polymorphism:cds:p148G>R RGD PMID:12917504 RGD:1625428 NCBI chrNW_004936480:11,867,573...11,913,563 JBrowse link
G Pparg peroxisome proliferator activated receptor gamma ISO mRNA, protein:increased expression:ovary follicle (rat) RGD PMID:20813360 RGD:8553031 NCBI chrNW_004936602:1,230,907...1,368,588 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 LOC101977414 steroid 21-hydroxylase ISO ClinVar Annotator: match by term: Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency ClinVar PMID:12050257 NCBI chrNW_004936727:1,550,783...1,553,327 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_004936635:485,903...647,820 JBrowse link
G Greb1l GREB1 like retinoic acid receptor coactivator ISO ClinVar Annotator: match by term: Mayer-Rokitansky-Kuster-Hauser syndrome ClinVar PMID:25741868 PMID:32378186 NCBI chrNW_004936550:1,110,679...1,240,463 JBrowse link
G Wnt4 Wnt family member 4 ISO ClinVar Annotator: match by term: Mayer-Rokitansky-Kuster-Hauser syndrome ClinVar PMID:25741868 NCBI chrNW_004936474:7,623,462...7,635,416 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 ClinVar Annotator: match by term: Mullerian aplasia and hyperandrogenism OMIM
ClinVar		 PMID:12016514 PMID:15317892 PMID:16959810 PMID:18182450 PMID:18987495 More... NCBI chrNW_004936474:7,623,462...7,635,416 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 ClinVar Annotator: match by term: Ovarian dysgenesis 1 OMIM
ClinVar		 PMID:7553856 PMID:8178824 PMID:9020851 PMID:9769327 PMID:9851774 More... NCBI chrNW_004936508:3,601,205...3,754,234 JBrowse link
Ovarian Dysgenesis 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zswim7 zinc finger SWIM-type containing 7 ISO ClinVar Annotator: match by term: OVARIAN DYSGENESIS 10 OMIM
ClinVar		 PMID:34402903 NCBI chrNW_004936821:567,397...582,177 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 ClinVar Annotator: match by term: Ovarian dysgenesis 2 | ClinVar Annotator: match by term: Premature ovarian failure 4 OMIM
ClinVar		 PMID:15136966 PMID:16464940 PMID:16508750 PMID:16645022 PMID:18614612 More... NCBI chrNW_004936873:109,156...115,498 JBrowse link
ovarian dysgenesis 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC101968015 PSMC3 interacting protein ISO ClinVar Annotator: match by term: Ovarian dysgenesis 3 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:31042289 NCBI chrNW_004936490:17,328,195...17,333,700 JBrowse link
G Mlx MAX dimerization protein MLX ISO ClinVar Annotator: match by term: Ovarian dysgenesis 3 ClinVar PMID:31042289 NCBI chrNW_004936490:17,323,137...17,327,774 JBrowse link
G Nrxn1 neurexin 1 ISO ClinVar Annotator: match by term: Ovarian dysgenesis 3 ClinVar NCBI chrNW_004936508:1,889,640...2,954,039 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 ClinVar Annotator: match by term: OVARIAN DYSGENESIS 4 OMIM
ClinVar		 PMID:25480036 PMID:25741868 PMID:26771056 PMID:31042289 NCBI chrNW_004936658:1,657,226...1,734,150 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 ClinVar Annotator: match by term: Ovarian dysgenesis 5 OMIM
ClinVar		 PMID:17301727 PMID:25741868 PMID:25774885 NCBI chrNW_004936669:1,901,892...1,912,184 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 ClinVar Annotator: match by term: Ovarian dysgenesis 6 OMIM
ClinVar		 PMID:26485283 NCBI chrNW_004936545:6,600,124...6,642,839 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 ClinVar Annotator: match by term: Ovarian dysgenesis 7 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29566152 PMID:31042289 NCBI chrNW_004936540:1,451,882...1,466,569 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 ClinVar Annotator: match by term: Ovarian dysgenesis 8 OMIM
ClinVar		 PMID:30113650 NCBI chrNW_004936495:7,956,168...8,018,356 JBrowse link
Ovarian Dysgenesis 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Spidr scaffold protein involved in DNA repair ISO ClinVar Annotator: match by term: Ovarian dysgenesis 9 OMIM
ClinVar		 PMID:27967308 PMID:34697795 NCBI chrNW_004936590:4,921,755...5,041,573 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_004936474:19,826,808...19,846,453 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 ClinVar Annotator: match by term: Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,XX sex reversal OMIM
ClinVar		 PMID:16158431 PMID:17041600 NCBI chrNW_004936474:19,826,808...19,846,453 JBrowse link
Perrault Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Perrault syndrome 1 ClinVar PMID:25741868 NCBI chrNW_004936471:10,747,030...10,969,223 JBrowse link
G Hsd17b4 hydroxysteroid 17-beta dehydrogenase 4 ISO ClinVar Annotator: match by term: OVARIAN DYSGENESIS WITH SENSORINEURAL DEAFNESS | ClinVar Annotator: match by term: Perrault syndrome 1 OMIM
ClinVar		 PMID:4061497 PMID:9482850 PMID:9915948 PMID:10419023 PMID:10497229 More... NCBI chrNW_004936715:2,357,215...2,446,601 JBrowse link
G Prorp protein only RNase P catalytic subunit ISO ClinVar Annotator: match by term: Perrault syndrome 1 ClinVar NCBI chrNW_004936494:9,282,894...9,414,350 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13624
    disease of anatomical entity 13360
      endocrine system disease 5061
        gonadal disease 1005
          disorder of sexual development 187
            46, XX Disorders of Sex Development 30
              46 XX gonadal dysgenesis + 17
              46,XX sex reversal + 6
              Female Pseudohermaphroditism with Skeletal Anomalies 0
              Mayer-Rokitansky-Kuster-Hauser syndrome + 3
              Michels Caskey Syndrome 0
              aromatase excess syndrome 2
              cortisone reductase deficiency + 2
              hyperandrogenism + 5
Path 2
Term Annotations click to browse term
  disease 13624
    Developmental Disease 11053
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9910
        Congenital Abnormalities 6009
          Urogenital Abnormalities 346
            disorder of sexual development 187
              46, XX Disorders of Sex Development 30
                46 XX gonadal dysgenesis + 17
                46,XX sex reversal + 6
                Female Pseudohermaphroditism with Skeletal Anomalies 0
                Mayer-Rokitansky-Kuster-Hauser syndrome + 3
                Michels Caskey Syndrome 0
                aromatase excess syndrome 2
                cortisone reductase deficiency + 2
                hyperandrogenism + 5
paths to the root