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
Accession: DOID:9005851
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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Nr3c1
nuclear receptor subfamily 3, group C, member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11932321
NCBI chr18:31,271,681...31,393,320
Ensembl chr18:31,271,681...31,393,375
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Fancl
FA complementation group L
ISS
OMIM:233300 | OMIM:278850 | OMIM:300833 | OMIM:400045 | OMIM:611812 | OMIM:614324
MouseDO
NCBI chr14:100,249,733...100,317,958
Ensembl chr14:100,248,875...100,314,255
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Fshr
follicle stimulating hormone receptor
ISO
DNA:point mutation:exon:A189V ClinVar Annotator: match by term: Ovarian dysgenesis
ClinVar RGD
PMID:7553856
RGD:1601232
NCBI chr 6:5,198,825...5,406,785
Ensembl chr 6:5,198,825...5,406,785
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Mrps22
mitochondrial ribosomal protein S22
ISO
ClinVar Annotator: match by term: 46 XX gonadal dysgenesis
ClinVar
PMID:28492532 PMID:29566152
NCBI chr 8:99,184,110...99,197,278
Ensembl chr 8:99,184,109...99,197,291
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Nr5a1
nuclear receptor subfamily 5, group A, member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19246354
NCBI chr 3:22,464,786...22,486,328
Ensembl chr 3:22,465,502...22,486,328
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Sry
sex determining region Y
ISO
ClinVar Annotator: match by term: 46,XX sex reversal 1
OMIM ClinVar
PMID:25741868
NCBI chr Y:440,551...443,183
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Sox9
SRY-box transcription factor 9
ISO
ClinVar Annotator: match by term: 46,XX sex reversal 2
OMIM ClinVar
PMID:21208124 PMID:22051515
NCBI chr10:97,806,485...97,811,994
Ensembl chr10:97,806,485...97,811,994
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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 PMID:27610946 PMID:27855412 PMID:28033660 PMID:28492532 More...
NCBI chr 3:22,464,786...22,486,328
Ensembl chr 3:22,465,502...22,486,328
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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 chr 1:124,008,282...124,022,521
Ensembl chr 1:124,009,181...124,022,031
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Mrps22
mitochondrial ribosomal protein S22
ISO
ClinVar Annotator: match by term: 46 XX gonadal dysgenesis
ClinVar
PMID:28492532 PMID:29566152
NCBI chr 8:99,184,110...99,197,278
Ensembl chr 8:99,184,109...99,197,291
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Wnt4
Wnt family member 4
ISO
ClinVar Annotator: match by term: SERKAL syndrome
OMIM ClinVar
PMID:18179883 PMID:25741868
NCBI chr 5:149,513,573...149,535,415
Ensembl chr 5:149,514,018...149,532,859
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H6pd
hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)
ISO
DNA:point mutation:CDS:p.R453Q (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:12858176
RGD:1625067
NCBI chr 5:160,434,499...160,470,203
Ensembl chr 5:160,438,697...160,470,171
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Hsd11b1
hydroxysteroid 11-beta dehydrogenase 1
ISO
DNA:insertion,transversion:intron:86557insA, 83597T>G (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:25526675 PMID:12858176
RGD:1625067
NCBI chr13:104,728,539...104,798,884
Ensembl chr13:104,728,539...104,788,687
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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 PMID:16817821 PMID:17062770 PMID:18628520 PMID:25741868 PMID:28492532 More...
NCBI chr 5:160,434,499...160,470,203
Ensembl chr 5:160,438,697...160,470,171
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Hsd11b1
hydroxysteroid 11-beta dehydrogenase 1
ISO
ClinVar Annotator: match by term: Cortisone reductase deficiency 2
OMIM ClinVar
PMID:21325058 PMID:25741868
NCBI chr13:104,728,539...104,798,884
Ensembl chr13:104,728,539...104,788,687
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Bmpr2
bone morphogenetic protein receptor type 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22825968
NCBI chr 9:61,192,718...61,307,280
Ensembl chr 9:61,190,566...61,301,809
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Il6st
interleukin 6 cytokine family signal transducer
resistance
ISO
DNA:polymorphism:cds:p148G>R
RGD
PMID:12917504
RGD:1625428
NCBI chr 2:44,065,979...44,106,255
Ensembl chr 2:44,066,130...44,109,936
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Pparg
peroxisome proliferator-activated receptor gamma
IEP
mRNA, protein:increased expression:ovary follicle (rat)
RGD
PMID:20813360
RGD:8553031
NCBI chr 4:148,423,102...148,548,471
Ensembl chr 4:148,423,194...148,548,468
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Ar
androgen receptor
ISO
ClinVar Annotator: match by term: Aplasia of the uterus
ClinVar
PMID:25741868
NCBI chr X:63,104,771...63,273,934
Ensembl chr X:63,104,771...63,273,925
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Greb1l
GREB1 like retinoic acid receptor coactivator
ISO
ClinVar Annotator: match by term: Mayer-Rokitansky-Kuster-Hauser syndrome
ClinVar
PMID:25741868 PMID:32378186
NCBI chr18:1,392,330...1,629,483
Ensembl chr18:1,392,725...1,628,067
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Wnt4
Wnt family member 4
ISO
ClinVar Annotator: match by term: Mayer-Rokitansky-Kuster-Hauser syndrome
ClinVar
PMID:25741868
NCBI chr 5:149,513,573...149,535,415
Ensembl chr 5:149,514,018...149,532,859
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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 chr18:1,392,330...1,629,483
Ensembl chr18:1,392,725...1,628,067
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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 PMID:25741868 PMID:28492532 More...
NCBI chr 5:149,513,573...149,535,415
Ensembl chr 5:149,514,018...149,532,859
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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 PMID:10022448 PMID:10551778 PMID:11036902 PMID:11213123 PMID:11754099 PMID:11889179 PMID:12571157 PMID:15249125 PMID:15579795 PMID:15886248 PMID:16084888 PMID:16864747 PMID:17826728 PMID:18159088 PMID:19172541 PMID:19400992 PMID:20087398 PMID:20237833 PMID:21752882 PMID:22401810 PMID:23419799 PMID:25741868 PMID:28492532 PMID:29157895 PMID:30691934 PMID:31830376 More...
NCBI chr 6:5,198,825...5,406,785
Ensembl chr 6:5,198,825...5,406,785
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Zswim7
zinc finger, SWIM-type containing 7
ISO
ClinVar Annotator: match by term: Ovarian dysgenesis 10
OMIM ClinVar
PMID:34402903
NCBI chr10:46,953,311...46,969,800
Ensembl chr10:46,957,525...46,969,671
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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 PMID:19263482 PMID:20364024 PMID:20547206 PMID:25741868 PMID:28492532 PMID:31957178 More...
NCBI chr X:16,169,123...16,174,187
Ensembl chr X:16,169,123...16,174,187
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Mlx
MAX dimerization protein MLX
ISO
ClinVar Annotator: match by term: Ovarian dysgenesis 3
ClinVar
PMID:31042289
NCBI chr10:86,019,216...86,024,326
Ensembl chr10:86,019,588...86,032,350
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Nrxn1
neurexin 1
ISO
ClinVar Annotator: match by term: Ovarian dysgenesis 3
ClinVar
NCBI chr 6:3,177,788...4,323,848
Ensembl chr 6:3,177,897...4,322,710
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Psmc3ip
PSMC3 interacting protein
ISO
ClinVar Annotator: match by term: Ovarian dysgenesis 3
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:31042289
NCBI chr10:86,024,281...86,027,928
Ensembl chr10:86,023,950...86,027,423
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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 chr20:32,818,219...32,929,577
Ensembl chr20:32,844,951...32,929,600
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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 chr 3:8,662,995...8,667,521
Ensembl chr 3:8,663,318...8,667,388
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Nup107
nucleoporin 107
ISO
ClinVar Annotator: match by term: Ovarian dysgenesis 6
ClinVar OMIM
PMID:26485283
NCBI chr 7:53,353,740...53,398,345
Ensembl chr 7:53,353,743...53,398,370
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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 chr 8:99,184,110...99,197,278
Ensembl chr 8:99,184,109...99,197,291
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Esr2
estrogen receptor 2
ISO
ClinVar Annotator: match by term: Ovarian dysgenesis 8
ClinVar OMIM
PMID:30113650
NCBI chr 6:94,858,438...94,909,630
Ensembl chr 6:94,809,547...94,908,919
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Spidr
scaffold protein involved in DNA repair
ISO
ClinVar Annotator: match by term: Ovarian dysgenesis 9
OMIM ClinVar
PMID:27967308 PMID:34697795
NCBI chr11:84,766,593...85,007,597
Ensembl chr11:84,766,593...85,007,600
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Rspo1
R-spondin 1
ISO
ClinVar Annotator: match by term: Palmoplantar hyperkeratosis and true hermaphroditism
ClinVar
PMID:18085567
NCBI chr 5:137,251,629...137,273,273
Ensembl chr 5:137,251,659...137,272,933
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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 chr 5:137,251,629...137,273,273
Ensembl chr 5:137,251,659...137,272,933
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Fbn1
fibrillin 1
ISO
ClinVar Annotator: match by term: Perrault syndrome 1
ClinVar
PMID:25741868
NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889
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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 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:4061497 PMID:9482850 PMID:9915948 PMID:10419023 PMID:10497229 PMID:11810648 PMID:15216544 PMID:16385454 PMID:20673864 PMID:22864515 PMID:23181892 PMID:23332201 PMID:24033266 PMID:24108619 PMID:24553428 PMID:25526675 PMID:25741868 PMID:25967389 PMID:26243799 PMID:26467025 PMID:26970254 PMID:27790638 PMID:28017249 PMID:28492532 PMID:28830375 PMID:31455392 PMID:32747562 PMID:33539324 PMID:34906502 More...
NCBI chr18:43,328,903...43,417,950
Ensembl chr18:43,328,824...43,417,952
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Prorp
protein only RNase P catalytic subunit
ISO
ClinVar Annotator: match by term: Perrault syndrome 1
ClinVar
NCBI chr 6:72,669,659...72,762,419
Ensembl chr 6:72,670,847...72,762,416
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