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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 DISORDER OF SEX DEVELOPMENT;   46,XX DSD;   female pseudohermaphroditism;   female pseudohermaphroditisms
 primary_id: MESH:D058489


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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
G Tyro3 TYRO3 protein tyrosine kinase ISO ClinVar Annotator: match by term: 46,XX disorder of sex development ClinVar NCBI chrNW_004955416:8,361,722...8,377,629
Ensembl chrNW_004955416:8,359,207...8,377,692
JBrowse link
46 XX gonadal dysgenesis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fancl FA complementation group L ISO OMIM:233300 | OMIM:278850 | OMIM:300833 | OMIM:400045 | OMIM:611812 | OMIM:614324 MouseDO NCBI chrNW_004955424:25,251,701...25,307,236
Ensembl chrNW_004955424:25,251,689...25,307,180
JBrowse link
G Fshr follicle stimulating hormone receptor ISO ClinVar Annotator: match by term: Ovarian dysgenesis ClinVar 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:25741868 PMID:28492532 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 ClinVar Annotator: match by term: 46,XX sex reversal 2 ClinVar PMID:21208124 PMID:22051515 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 ClinVar Annotator: match by term: 46,XX sex reversal 4 OMIM
ClinVar
PMID:11932325 PMID:25741868 PMID:26523528 PMID:27378692 PMID:27490115 More... 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 ClinVar Annotator: match by term: 46,xx sex reversal 5 OMIM
ClinVar
PMID:25741868 PMID:27363585 PMID:29478779 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:25741868 PMID:28492532 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 ClinVar Annotator: match by term: SERKAL syndrome OMIM
ClinVar
PMID:18179883 PMID:25741868 NCBI chrNW_004955452:2,319,446...2,344,740
Ensembl chrNW_004955452:2,319,446...2,344,989
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 ClinVar Annotator: match by term: Cortisone reductase deficiency 1 OMIM
ClinVar
PMID:10522997 PMID:11150889 PMID:12858176 PMID:15827106 PMID:16091483 More... 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 ClinVar Annotator: match by term: Cortisone reductase deficiency 2 OMIM
ClinVar
PMID:21325058 PMID:25741868 NCBI chrNW_004955489:2,500,928...2,524,715
Ensembl chrNW_004955489:2,497,680...2,524,805
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 PMID:23359698 PMID:25741868 PMID:29035424 PMID:30611409 More... 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: Mayer-Rokitansky-Kuster-Hauser syndrome ClinVar PMID:25741868 PMID:28492532 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: Mayer-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
Mayer-Rokitansky-Kuster-Hauser syndrome type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Greb1l GREB1 like retinoic acid receptor coactivator ISO ClinVar Annotator: match by term: Rokitansky sequence ClinVar PMID:25741868 NCBI chrNW_004955402:9,865,934...10,204,990
Ensembl chrNW_004955402:10,104,225...10,201,479
JBrowse link
Mayer-Rokitansky-Kuster-Hauser syndrome type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Greb1l GREB1 like retinoic acid receptor coactivator ISO ClinVar Annotator: match by term: Klippel-feil deformity, conductive deafness, and absent vagina ClinVar PMID:25741868 NCBI chrNW_004955402:9,865,934...10,204,990
Ensembl chrNW_004955402:10,104,225...10,201,479
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_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 ClinVar Annotator: match by term: Ovarian dysgenesis 1 OMIM
ClinVar
PMID:7553856 PMID:8178824 PMID:9020851 PMID:9769327 PMID:9851774 More... NCBI chrNW_004955441:15,422,190...15,585,446
Ensembl chrNW_004955441:15,422,190...15,585,537
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:25741868 PMID:32719396 PMID:33713115 PMID:34402903 NCBI chrNW_004955467:1,364,044...1,381,101
Ensembl chrNW_004955467:1,364,372...1,381,083
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_004955543:2,304,112...2,345,376
Ensembl chrNW_004955543:2,339,659...2,345,406
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 PMID:28492532 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 ClinVar Annotator: match by term: Ovarian dysgenesis 3 OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:31042289 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 ClinVar Annotator: match by term: OVARIAN DYSGENESIS 4 OMIM
ClinVar
PMID:25480036 PMID:25741868 PMID:26771056 PMID:28492532 PMID:31042289 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 ClinVar Annotator: match by term: Ovarian dysgenesis 5 OMIM
ClinVar
PMID:17301727 PMID:25741868 PMID:25774885 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 ClinVar Annotator: match by term: Ovarian dysgenesis 6 OMIM
ClinVar
PMID:26485283 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 ClinVar Annotator: match by term: Ovarian dysgenesis 7 OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:29566152 PMID:31042289 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 ClinVar Annotator: match by term: Ovarian dysgenesis 8 OMIM
ClinVar
PMID:30113650 NCBI chrNW_004955466:5,587,003...5,644,765
Ensembl chrNW_004955466:5,575,088...5,638,946
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:25741868 PMID:27967308 PMID:34697795 NCBI chrNW_004955454:7,360,144...7,710,077
Ensembl chrNW_004955454:7,359,670...7,711,680
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 ClinVar Annotator: match by term: Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,XX sex reversal OMIM
ClinVar
PMID:16158431 PMID:17041600 PMID:25741868 PMID:28492532 NCBI chrNW_004955452:15,415,417...15,435,616
Ensembl chrNW_004955452:15,415,932...15,435,656
JBrowse link
Perrault Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clpp caseinolytic mitochondrial matrix peptidase proteolytic subunit ISO ClinVar Annotator: match by term: Perrault syndrome 1 ClinVar PMID:30311386 NCBI chrNW_004955495:3,224,968...3,233,482
Ensembl chrNW_004955495:3,223,709...3,233,562
JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Perrault syndrome 1 ClinVar PMID:25741868 NCBI chrNW_004955409:5,281,603...5,502,547
Ensembl chrNW_004955409:5,281,603...5,504,761
JBrowse link
G Hsd17b4 hydroxysteroid 17-beta dehydrogenase 4 ISO ClinVar Annotator: match by term: HSD17B4-related condition | 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:9536098 PMID:9915948 PMID:10419023 More... 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
Ensembl chrNW_004955409:25,791,575...25,920,077
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    disease of anatomical entity 13809
      endocrine system disease 5466
        gonadal disease 1130
          disorder of sexual development 213
            46, XX Disorders of Sex Development 32
              46 XX gonadal dysgenesis + 19
              46,XX sex reversal + 6
              Female Pseudohermaphroditism with Skeletal Anomalies 0
              Mayer-Rokitansky-Kuster-Hauser syndrome + 3
              Michels Caskey Syndrome 0
              hyperandrogenism + 7
Path 2
Term Annotations click to browse term
  disease 16063
    Developmental Disease 15993
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 15946
        Congenital Abnormalities 6888
          Urogenital Abnormalities 410
            disorder of sexual development 213
              46, XX Disorders of Sex Development 32
                46 XX gonadal dysgenesis + 19
                46,XX sex reversal + 6
                Female Pseudohermaphroditism with Skeletal Anomalies 0
                Mayer-Rokitansky-Kuster-Hauser syndrome + 3
                Michels Caskey Syndrome 0
                hyperandrogenism + 7
paths to the root