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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.



show annotations for term's descendants           Sort by:
 
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 EXP CTD Direct Evidence: marker/mechanism CTD PMID:11932321 NCBI chr 5:143,277,931...143,435,512
Ensembl chr 5:143,277,931...143,435,512
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 ISS OMIM:233300 | OMIM:278850 | OMIM:300833 | OMIM:400045 | OMIM:611812 | OMIM:614324 MouseDO NCBI chr 2:58,159,243...58,241,380
Ensembl chr 2:58,159,243...58,241,410
JBrowse link
G FSHR follicle stimulating hormone receptor IAGP DNA:point mutation:exon:A189V
ClinVar Annotator: match by term: Ovarian Dysgenesis
ClinVar
RGD
PMID:7553856 RGD:1601232 NCBI chr 2:48,962,157...49,154,515
Ensembl chr 2:48,962,157...49,154,527
JBrowse link
G MRPS22 mitochondrial ribosomal protein S22 IAGP ClinVar Annotator: match by term: 46,XX gonadal dysgenesis ClinVar PMID:28492532 PMID:29566152 NCBI chr 3:139,343,994...139,357,140
Ensembl chr 3:139,005,806...139,360,497
JBrowse link
G NR5A1 nuclear receptor subfamily 5 group A member 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19246354 NCBI chr 9:124,481,236...124,507,399
Ensembl chr 9:124,481,236...124,507,420
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 IAGP ClinVar Annotator: match by term: 46,XX SEX REVERSAL, SRY-POSITIVE ClinVar
OMIM
PMID:25741868 NCBI chr  Y:2,786,855...2,787,682
Ensembl chr  Y:2,786,855...2,787,682
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 IAGP ClinVar Annotator: match by term: CHROMOSOME 17q24 DUPLICATION SYNDROME ClinVar
OMIM
PMID:21208124 PMID:22051515 NCBI chr17:72,121,020...72,126,416
Ensembl chr17:72,121,020...72,126,416
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 IAGP ClinVar Annotator: match by term: 46, XX sex reversal 4
ClinVar Annotator: match by term: 46,XX sex reversal 4
OMIM
ClinVar
PMID:11932325 PMID:22549935 PMID:25741868 PMID:26523528 PMID:27378692 More... NCBI chr 9:124,481,236...124,507,399
Ensembl chr 9:124,481,236...124,507,420
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 IAGP ClinVar Annotator: match by term: 46,XX SEX REVERSAL 5 OMIM
ClinVar
PMID:27363585 PMID:29478779 NCBI chr15:96,326,046...96,340,263
Ensembl chr15:96,325,938...96,340,263
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 IAGP ClinVar Annotator: match by term: 46,XX gonadal dysgenesis ClinVar PMID:28492532 PMID:29566152 NCBI chr 3:139,343,994...139,357,140
Ensembl chr 3:139,005,806...139,360,497
JBrowse link
G WNT4 Wnt family member 4 IAGP ClinVar Annotator: match by term: Serkal syndrome ClinVar
OMIM
PMID:18179883 PMID:25741868 NCBI chr 1:22,117,313...22,143,097
Ensembl chr 1:22,117,313...22,143,969
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 IAGP ClinVar Annotator: match by term: Gynecomastia, familial ClinVar PMID:16804045 NCBI chr  X:67,544,021...67,730,619
Ensembl chr  X:67,544,021...67,730,619
JBrowse link
G CYP19A1 cytochrome P450 family 19 subfamily A member 1 IAGP
EXP
ClinVar Annotator: match by term: Aromatase deficiency
ClinVar Annotator: match by term: Aromatase excess syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:1496995 PMID:1825497 PMID:2973313 PMID:8265607 PMID:8530621 More... NCBI chr15:51,208,057...51,338,596
Ensembl chr15:51,208,057...51,338,601
JBrowse link
G LOC110386947 CYP19A1 promoter I.1 IAGP ClinVar Annotator: match by term: Aromatase deficiency ClinVar NCBI chr15:51,338,521...51,341,006 JBrowse link
G LOC110386951 CYP19A1 promoter II/1.3 IAGP ClinVar Annotator: match by term: Aromatase deficiency ClinVar PMID:25415177 PMID:28492532 NCBI chr15:51,242,868...51,244,050 JBrowse link
G MIR4713HG MIR4713 host gene IAGP ClinVar Annotator: match by term: Aromatase deficiency
ClinVar Annotator: match by term: Aromatase excess syndrome
ClinVar PMID:1496995 PMID:1825497 PMID:2973313 PMID:8265607 PMID:8530621 More... NCBI chr15:51,037,488...51,293,912
Ensembl chr15:51,037,488...51,293,912
JBrowse link
G PIRC66 piwi-interacting RNA cluster 66 IAGP ClinVar Annotator: match by term: Aromatase deficiency
ClinVar Annotator: match by term: Aromatase excess syndrome
ClinVar PMID:1496995 PMID:1825497 PMID:2973313 PMID:8265607 PMID:8530621 More... NCBI chr15:51,037,584...51,322,397 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 IAGP
EXP
DNA:point mutation:CDS:p.R453Q (human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:12858176 RGD:1625067 NCBI chr 1:9,234,774...9,271,337
Ensembl chr 1:9,234,774...9,271,337
JBrowse link
G HSD11B1 hydroxysteroid 11-beta dehydrogenase 1 IAGP
EXP
DNA:insertion,transversion:intron:86557insA, 83597T>G (human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:25526675 PMID:12858176 RGD:1625067 NCBI chr 1:209,686,179...209,734,929
Ensembl chr 1:209,686,178...209,734,949
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 IAGP ClinVar Annotator: match by term: Cortisone reductase deficiency 1 ClinVar
OMIM
PMID:10522997 PMID:11150889 PMID:12858176 PMID:15827106 PMID:16091483 More... NCBI chr 1:9,234,774...9,271,337
Ensembl chr 1:9,234,774...9,271,337
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 IAGP ClinVar Annotator: match by term: Cortisone reductase deficiency 2 ClinVar
OMIM
PMID:21325058 PMID:25741868 NCBI chr 1:209,686,179...209,734,929
Ensembl chr 1:209,686,178...209,734,949
JBrowse link
G HSD11B1-AS1 HSD11B1 antisense RNA 1 IAGP ClinVar Annotator: match by term: Cortisone reductase deficiency 2 ClinVar PMID:21325058 PMID:25741868 NCBI chr 1:209,661,359...209,742,562
Ensembl chr 1:209,661,356...209,724,125
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 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22825968 NCBI chr 2:202,376,327...202,567,749
Ensembl chr 2:202,376,327...202,567,751
JBrowse link
G IL6ST interleukin 6 cytokine family signal transducer resistance IAGP DNA:polymorphism:cds:p148G>R RGD PMID:12917504 RGD:1625428 NCBI chr 5:55,935,095...55,994,963
Ensembl chr 5:55,935,095...55,995,022
JBrowse link
G PPARG peroxisome proliferator activated receptor gamma ISO mRNA, protein:increased expression:ovary follicle (rat) RGD PMID:20813360 RGD:8553031 NCBI chr 3:12,287,368...12,434,344
Ensembl chr 3:12,287,368...12,434,356
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 CYP21A2 cytochrome P450 family 21 subfamily A member 2 IAGP ClinVar Annotator: match by term: Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency ClinVar PMID:12050257 NCBI chr 6:32,038,415...32,041,644
Ensembl chr 6:32,038,327...32,041,644
JBrowse link
G LOC106780800 CYP21A2 recombination region IAGP ClinVar Annotator: match by term: Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency ClinVar PMID:12050257 NCBI chr 6:32,037,872...32,041,144 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 IAGP ClinVar Annotator: match by term: Aplasia of the uterus ClinVar PMID:25741868 NCBI chr  X:67,544,021...67,730,619
Ensembl chr  X:67,544,021...67,730,619
JBrowse link
G GREB1L GREB1 like retinoic acid receptor coactivator IAGP ClinVar Annotator: match by term: Rokitansky Kuster Hauser syndrome ClinVar PMID:25741868 PMID:32378186 NCBI chr18:21,242,232...21,526,112
Ensembl chr18:21,242,232...21,526,112
JBrowse link
G HNRNPCL1 heterogeneous nuclear ribonucleoprotein C like 1 IAGP ClinVar Annotator: match by term: Rokitansky Kuster Hauser syndrome ClinVar PMID:25741868 NCBI chr 1:12,847,377...12,848,720
Ensembl chr 1:12,847,377...12,848,720
JBrowse link
G LOC109504725 androgen receptor repeat instability region IAGP ClinVar Annotator: match by term: Aplasia of the uterus ClinVar PMID:25741868 NCBI chr  X:67,545,317...67,545,419 JBrowse link
G WNT4 Wnt family member 4 IAGP ClinVar Annotator: match by term: Rokitansky Kuster Hauser syndrome ClinVar PMID:25741868 NCBI chr 1:22,117,313...22,143,097
Ensembl chr 1:22,117,313...22,143,969
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 IAGP ClinVar Annotator: match by term: Mullerian aplasia and hyperandrogenism ClinVar
OMIM
PMID:12016514 PMID:15317892 PMID:16959810 PMID:18182450 PMID:18987495 More... NCBI chr 1:22,117,313...22,143,097
Ensembl chr 1:22,117,313...22,143,969
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 IAGP ClinVar Annotator: match by term: Ovarian dysgenesis 1 ClinVar
OMIM
PMID:7553856 PMID:8178824 PMID:9020851 PMID:9769327 PMID:9851774 More... NCBI chr 2:48,962,157...49,154,515
Ensembl chr 2:48,962,157...49,154,527
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 IAGP ClinVar Annotator: match by term: OVARIAN DYSGENESIS 10 OMIM
ClinVar
PMID:34402903 NCBI chr17:15,976,560...15,999,704
Ensembl chr17:15,976,560...15,999,717
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 IAGP ClinVar Annotator: match by term: Premature ovarian failure 4
ClinVar Annotator: match by term: Ovarian dysgenesis 2
ClinVar
OMIM
PMID:15136966 PMID:16464940 PMID:16508750 PMID:16645022 PMID:18614612 More... NCBI chr  X:50,910,735...50,916,641
Ensembl chr  X:50,910,735...50,916,641
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 IAGP ClinVar Annotator: match by term: Ovarian dysgenesis 3 ClinVar PMID:31042289 NCBI chr17:42,567,100...42,573,203
Ensembl chr17:42,567,072...42,573,239
JBrowse link
G NRXN1 neurexin 1 IAGP ClinVar Annotator: match by term: Ovarian dysgenesis 3 ClinVar NCBI chr 2:49,918,503...51,032,132
Ensembl chr 2:49,918,503...51,225,575
JBrowse link
G PSMC3IP PSMC3 interacting protein IAGP ClinVar Annotator: match by term: Ovarian dysgenesis 3 OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:31042289 NCBI chr17:42,572,310...42,577,831
Ensembl chr17:42,572,310...42,577,831
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 IAGP ClinVar Annotator: match by term: Ovarian dysgenesis 4 ClinVar
OMIM
PMID:25480036 PMID:25741868 PMID:26771056 PMID:31042289 NCBI chr 6:118,813,455...118,935,159
Ensembl chr 6:118,813,442...118,935,162
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 IAGP ClinVar Annotator: match by term: OVARIAN DYSGENESIS 5 ClinVar
OMIM
PMID:17301727 PMID:25741868 PMID:25774885 NCBI chr 9:135,693,407...135,702,112
Ensembl chr 9:135,693,407...135,704,498
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 IAGP ClinVar Annotator: match by term: OVARIAN DYSGENESIS 6
ClinVar Annotator: match by term: Ovarian dysgenesis 6
ClinVar
OMIM
PMID:26485283 NCBI chr12:68,686,978...68,745,809
Ensembl chr12:68,686,951...68,745,809
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 IAGP ClinVar Annotator: match by term: Ovarian dysgenesis 7
ClinVar Annotator: match by term: OVARIAN DYSGENESIS 7
OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:29566152 PMID:31042289 NCBI chr 3:139,343,994...139,357,140
Ensembl chr 3:139,005,806...139,360,497
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 IAGP ClinVar Annotator: match by term: OVARIAN DYSGENESIS 8 ClinVar
OMIM
PMID:30113650 NCBI chr14:64,226,707...64,338,613
Ensembl chr14:64,084,232...64,338,112
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 IAGP ClinVar Annotator: match by term: OVARIAN DYSGENESIS 9 OMIM
ClinVar
PMID:27967308 PMID:34697795 NCBI chr 8:47,260,878...47,736,306
Ensembl chr 8:47,260,878...47,736,306
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 IAGP ClinVar Annotator: match by term: Palmoplantar hyperkeratosis and true hermaphroditism ClinVar PMID:18085567 NCBI chr 1:37,611,350...37,634,892
Ensembl chr 1:37,611,350...37,634,892
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 IAGP ClinVar Annotator: match by term: Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,XX sex reversal ClinVar
OMIM
PMID:16158431 PMID:17041600 NCBI chr 1:37,611,350...37,634,892
Ensembl chr 1:37,611,350...37,634,892
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 IAGP ClinVar Annotator: match by term: Perrault syndrome 1 ClinVar PMID:25741868 NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721
JBrowse link
G HSD17B4 hydroxysteroid 17-beta dehydrogenase 4 IAGP
EXP
ClinVar Annotator: match by term: Bifunctional peroxisomal enzyme deficiency
ClinVar Annotator: match by term: Perrault syndrome 1
ClinVar Annotator: match by term: OVARIAN DYSGENESIS WITH SENSORINEURAL DEAFNESS
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:4061497 PMID:9482850 PMID:9915948 PMID:10419023 PMID:10497229 More... NCBI chr 5:119,452,497...119,542,332
Ensembl chr 5:119,452,465...119,637,199
JBrowse link
G PRORP protein only RNase P catalytic subunit IAGP ClinVar Annotator: match by term: Perrault syndrome 1 ClinVar NCBI chr14:35,121,839...35,277,622
Ensembl chr14:35,121,846...35,277,622
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21668
    disease of anatomical entity 20318
      endocrine system disease 6508
        gonadal disease 1133
          disorder of sexual development 230
            46, XX Disorders of Sex Development 40
              46 XX gonadal dysgenesis + 19
              46,XX sex reversal + 7
              Female Pseudohermaphroditism with Skeletal Anomalies 0
              Mayer-Rokitansky-Kuster-Hauser syndrome + 5
              Michels Caskey Syndrome 0
              aromatase excess syndrome 6
              cortisone reductase deficiency + 3
              hyperandrogenism + 6
Path 2
Term Annotations click to browse term
  disease 21668
    Developmental Disease 16083
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13666
        Congenital Abnormalities 7996
          Urogenital Abnormalities 418
            disorder of sexual development 230
              46, XX Disorders of Sex Development 40
                46 XX gonadal dysgenesis + 19
                46,XX sex reversal + 7
                Female Pseudohermaphroditism with Skeletal Anomalies 0
                Mayer-Rokitansky-Kuster-Hauser syndrome + 5
                Michels Caskey Syndrome 0
                aromatase excess syndrome 6
                cortisone reductase deficiency + 3
                hyperandrogenism + 6
paths to the root