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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 5:138,634,278...139,089,171
Ensembl chr 5:144,741,452...144,865,269
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 chr2A:49,088,450...49,287,688
Ensembl chr2A:50,008,328...50,207,258
JBrowse link
G MRPS22 mitochondrial ribosomal protein S22 ISO ClinVar Annotator: match by term: 46,XX gonadal dysgenesis ClinVar PMID:29566152 NCBI chr 3:136,380,963...136,394,148
Ensembl chr 3:143,980,670...143,993,842
JBrowse link
G NR5A1 nuclear receptor subfamily 5 group A member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19246354 NCBI chr 9:95,605,282...95,628,773
Ensembl chr 9:124,122,968...124,149,292
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 chr17:66,028,737...66,034,122 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 9:95,605,282...95,628,773
Ensembl chr 9:124,122,968...124,149,292
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 chr15:75,008,879...75,021,981 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 chr 3:136,380,963...136,394,148
Ensembl chr 3:143,980,670...143,993,842
JBrowse link
G WNT4 Wnt family member 4 ISO OMIM NCBI chr 1:21,310,228...21,335,985
Ensembl chr 1:22,255,056...22,268,801
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 chr15:30,152,924...30,282,854
Ensembl chr15:48,486,688...48,521,554
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 chr 1:7,996,315...8,031,987
Ensembl chr 1:9,232,666...9,256,631
JBrowse link
G HSD11B1 hydroxysteroid 11-beta dehydrogenase 1 ISO CTD Direct Evidence: marker/mechanism
DNA:insertion,transversion:intron:86557insA, 83597T>G (human)
CTD
RGD
PMID:12858176 PMID:25526675 RGD:1625067 NCBI chr 1:185,262,599...185,311,417
Ensembl chr 1:190,086,449...190,116,765
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 1:7,996,315...8,031,987
Ensembl chr 1:9,232,666...9,256,631
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 1:185,262,599...185,311,417
Ensembl chr 1:190,086,449...190,116,765
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 5:114,842,892...114,928,559
Ensembl chr 5:120,628,605...120,713,860
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 5:114,842,892...114,928,559
Ensembl chr 5:120,628,605...120,713,860
JBrowse link
G PRORP protein only RNase P catalytic subunit ISO ClinVar Annotator: match by term: Perrault syndrome 1 ClinVar NCBI chr14:15,871,707...16,027,634 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 chr2B:89,631,622...89,823,438
Ensembl chr2B:207,780,741...207,961,072
JBrowse link
G IL6ST interleukin 6 cytokine family signal transducer resistance ISO DNA:polymorphism:cds:p148G>R RGD PMID:12917504 RGD:1625428 NCBI chr 5:58,023,704...58,081,895
Ensembl chr 5:59,669,606...59,708,817
JBrowse link
G PPARG peroxisome proliferator activated receptor gamma ISO mRNA, protein:increased expression:ovary follicle (rat) RGD PMID:20813360 RGD:8553031 NCBI chr 3:12,215,322...12,361,669
Ensembl chr 3:12,622,397...12,705,060
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:56,722,828...56,909,004
Ensembl chr  X:66,791,081...66,969,357
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 chr18:14,482,493...14,763,789
Ensembl chr18:18,244,575...18,400,335
JBrowse link
G WNT4 Wnt family member 4 ISO ClinVar Annotator: match by term: Rokitansky Kuster Hauser syndrome ClinVar PMID:25741868 NCBI chr 1:21,310,228...21,335,985
Ensembl chr 1:22,255,056...22,268,801
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 1:21,310,228...21,335,985
Ensembl chr 1:22,255,056...22,268,801
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 chr2A:49,088,450...49,287,688
Ensembl chr2A:50,008,328...50,207,258
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:43,071,039...43,076,941
Ensembl chr  X:50,783,925...50,791,369
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 chr17:14,743,314...14,749,484
Ensembl chr17:14,967,236...14,972,875
JBrowse link
G NRXN1 neurexin 1 ISO ClinVar Annotator: match by term: Ovarian dysgenesis 3 ClinVar NCBI chr2A:50,063,398...51,178,659
Ensembl chr2A:50,985,067...52,091,277
JBrowse link
G PSMC3IP PSMC3 interacting protein ISO OMIM NCBI chr17:14,738,205...14,744,215
Ensembl chr17:14,961,602...14,967,639
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 6:116,620,188...116,743,435
Ensembl chr 6:120,763,329...120,881,865
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 chr 9:106,765,101...106,786,836
Ensembl chr 9:135,755,100...135,761,228
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 chr12:66,198,838...66,254,505
Ensembl chr12:68,981,409...69,035,642
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 chr 3:136,380,963...136,394,148
Ensembl chr 3:143,980,670...143,993,842
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 chr14:44,807,875...44,919,780
Ensembl chr14:63,064,402...63,131,303
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 1:36,885,176...36,907,821
Ensembl chr 1:38,231,764...38,256,903
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 1:36,885,176...36,907,821
Ensembl chr 1:38,231,764...38,256,903
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13776
    disease of anatomical entity 13430
      endocrine system disease 4937
        gonadal disease 965
          disorder of sexual development 146
            46, XX Disorders of Sex Development 26
              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 + 4
Path 2
Term Annotations click to browse term
  disease 13776
    Developmental Disease 10339
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8896
        Congenital Abnormalities 5412
          Urogenital Abnormalities 302
            disorder of sexual development 146
              46, XX Disorders of Sex Development 26
                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 + 4
paths to the root