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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 gonadal dysgenesis
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Accession:DOID:14450 term browser browse the term
Definition:A gonadal dysgenesis that is characterized by the lack of functional ovaries to induce puberty in an otherwise 46,XX female. (DO)
Synonyms:exact_synonym: Gonadal Dysgenesis, XX Type;   Ovarian Dysgenesis;   Pure Gonadal Dysgenesis, 46,XX;   XX Gonadal Dysgenesis;   XXGD
 primary_id: MESH:D023961
 alt_id: DOID:9004526
 xref: NCI:C120197;   OMIM:PS233300;   ORDO:243
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
46 XX gonadal dysgenesis term browser
Symbol Object Name 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 chr14:100,249,733...100,317,958
Ensembl chr14:100,248,875...100,314,255 		JBrowse link
G Fshr follicle stimulating hormone receptor ISO DNA:point mutation:exon:A189V
ClinVar Annotator: match by term: Gonadal dysgenesis, XX type | ClinVar Annotator: match by term: Ovarian dysgenesis		 ClinVar
RGD		 PMID:25741868 PMID:28492532 PMID:7553856 RGD:1601232 NCBI chr 6:5,198,825...5,406,785
Ensembl chr 6:5,198,825...5,406,785 		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 chr 8:99,184,110...99,197,278
Ensembl chr 8:99,184,109...99,197,291 		JBrowse link
G 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 		JBrowse link
46,XX sex reversal 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sry sex determining region Y ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: 46,XX sex reversal 1		 OMIM
CTD
ClinVar		 PMID:25741868 NCBI chr  Y:441,525...442,037 JBrowse link
46,XX sex reversal 2 term browser
Symbol Object Name 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 chr10:97,806,485...97,811,994
Ensembl chr10:97,806,485...97,811,994 		JBrowse link
ovarian dysgenesis 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fshr follicle stimulating hormone receptor ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Ovarian dysgenesis 1		 OMIM
CTD
ClinVar		 PMID:7553856 PMID:8178824 PMID:9020851 PMID:9769327 PMID:9851774 More... NCBI chr 6:5,198,825...5,406,785
Ensembl chr 6:5,198,825...5,406,785 		JBrowse link
Ovarian Dysgenesis 10 term browser
Symbol Object Name 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 chr10:46,953,311...46,969,800
Ensembl chr10:46,957,525...46,969,671 		JBrowse link
ovarian dysgenesis 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmp15 bone morphogenetic protein 15 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Ovarian dysgenesis 2 | ClinVar Annotator: match by term: Premature ovarian failure 4		 OMIM
CTD
ClinVar		 PMID:15136966 PMID:16464940 PMID:16508750 PMID:16645022 PMID:18614612 More... NCBI chr  X:16,169,123...16,174,187
Ensembl chr  X:16,169,123...16,174,187 		JBrowse link
ovarian dysgenesis 3 term browser
Symbol Object Name 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 chr10:86,019,216...86,024,326
Ensembl chr10:86,019,588...86,032,350 		JBrowse link
G Nrxn1 neurexin 1 ISO ClinVar Annotator: match by term: Ovarian dysgenesis 3 ClinVar PMID:28492532 NCBI chr 6:3,177,788...4,323,848
Ensembl chr 6:3,177,897...4,322,710 		JBrowse link
G Psmc3ip PSMC3 interacting protein ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Ovarian dysgenesis 3		 OMIM
CTD
ClinVar		 PMID:25741868 PMID:28492532 PMID:31042289 NCBI chr10:86,024,281...86,027,928
Ensembl chr10:86,023,950...86,027,423 		JBrowse link
ovarian dysgenesis 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mcm9 minichromosome maintenance 9 homologous recombination repair factor ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: OVARIAN DYSGENESIS 4		 OMIM
CTD
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 		JBrowse link
ovarian dysgenesis 5 term browser
Symbol Object Name 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 chr 3:8,662,995...8,667,521
Ensembl chr 3:8,663,318...8,667,388 		JBrowse link
ovarian dysgenesis 6 term browser
Symbol Object Name 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:25741868 PMID:26485283 PMID:28492532 NCBI chr 7:53,353,740...53,398,345
Ensembl chr 7:53,353,743...53,398,370 		JBrowse link
ovarian dysgenesis 7 term browser
Symbol Object Name 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 chr 8:99,184,110...99,197,278
Ensembl chr 8:99,184,109...99,197,291 		JBrowse link
ovarian dysgenesis 8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 		JBrowse link
Ovarian Dysgenesis 9 term browser
Symbol Object Name 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 chr11:84,766,593...85,007,597
Ensembl chr11:84,766,593...85,007,600 		JBrowse link
Perrault Syndrome 1 term browser
Symbol Object Name 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 chr 9:1,831,680...1,837,700
Ensembl chr 9:1,830,311...1,837,693 		JBrowse link
G 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 		JBrowse link
G Fshr follicle stimulating hormone receptor ISO ClinVar Annotator: match by term: Gonadal dysgenesis XX type deafness ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:5,198,825...5,406,785
Ensembl chr 6:5,198,825...5,406,785 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:4061497 PMID:9482850 PMID:9536098 PMID:9915948 PMID:10419023 More... NCBI chr18:43,328,903...43,417,950
Ensembl chr18:43,328,824...43,417,952 		JBrowse link
G Prorp protein only RNase P catalytic subunit ISO ClinVar Annotator: match by term: Perrault syndrome 1 ClinVar PMID:34715011 NCBI chr 6:72,669,659...72,762,419
Ensembl chr 6:72,670,847...72,762,416 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      Urogenital Diseases 5233
        Urogenital Abnormalities 445
          disorder of sexual development 233
            46, XX Disorders of Sex Development 32
              46 XX gonadal dysgenesis 20
                46,XX Gonadal Dysgenesis Epibulbar Dermoid 0
                46,XX sex reversal 1 1
                46,XX sex reversal 2 1
                46,XX sex reversal 3 0
                46,Xx Gonadal Dysgenesis, Partial Or Complete, Autosomal 0
                Hypergonadotropic Gonadal Dysgenesis XX Type, Short Stature, and Recurrent Metabolic Acidosis 0
                Ovarian Dysgenesis 10 1
                Ovarian Dysgenesis 9 1
                Perrault Syndrome 1 5
                ovarian dysgenesis 1 1
                ovarian dysgenesis 2 + 1
                ovarian dysgenesis 3 3
                ovarian dysgenesis 4 1
                ovarian dysgenesis 5 1
                ovarian dysgenesis 6 1
                ovarian dysgenesis 7 1
                ovarian dysgenesis 8 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      Urogenital Diseases 5233
        Female Urogenital Diseases and Pregnancy Complications 2456
          Female Urogenital Diseases 2003
            female reproductive system disease 2000
              Adnexal Diseases 900
                ovarian disease 891
                  Primary Ovarian Failure 169
                    46 XX gonadal dysgenesis 20
                      46,XX Gonadal Dysgenesis Epibulbar Dermoid 0
                      46,XX sex reversal 1 1
                      46,XX sex reversal 2 1
                      46,XX sex reversal 3 0
                      46,Xx Gonadal Dysgenesis, Partial Or Complete, Autosomal 0
                      Hypergonadotropic Gonadal Dysgenesis XX Type, Short Stature, and Recurrent Metabolic Acidosis 0
                      Ovarian Dysgenesis 10 1
                      Ovarian Dysgenesis 9 1
                      Perrault Syndrome 1 5
                      ovarian dysgenesis 1 1
                      ovarian dysgenesis 2 + 1
                      ovarian dysgenesis 3 3
                      ovarian dysgenesis 4 1
                      ovarian dysgenesis 5 1
                      ovarian dysgenesis 6 1
                      ovarian dysgenesis 7 1
                      ovarian dysgenesis 8 1
paths to the root