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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,XY sex reversal
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Accession:DOID:14448 term browser browse the term
Definition:A gonadal dysgenesis that is characterized by a normal 46,XY karyotype along with a progressive loss of germ cells on the developing gonads of an embryo. (DO)
Synonyms:exact_synonym: 46 XY gonadal dysgenesis;   46, XY Gonadal Sex Reversal;   46,XY Complete Gonadal Dysgenesis;   46,XY DSD/46,XY CGD;   Pure Gonadal Dysgenesis 46,XY;   Swyer Syndrome;   XY pure gonadal dysgenesis
 primary_id: MESH:D006061
 xref: NCI:C120198;   OMIM:PS400044;   ORDO:242
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
46,XY sex reversal 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: Pure gonadal dysgenesis 46,XY ClinVar PMID:11549642 PMID:25741868 PMID:27899157 NCBI chr  X:63,104,771...63,273,934
Ensembl chr  X:63,104,771...63,273,925
JBrowse link
G Chd7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: Pure gonadal dysgenesis 46,XY ClinVar PMID:25741868 PMID:33189935 NCBI chr 5:21,812,007...21,995,358
Ensembl chr 5:21,812,070...21,995,358
JBrowse link
G Dhh desert hedgehog signaling molecule susceptibility ISO
ISS
DNA:missense mutation:exon
OMIM:154230 | OMIM:233420 | OMIM:300018 | OMIM:400044 | OMIM:607080 | OMIM:612965 | OMIM:613080 | OMIM:613762 | OMIM:614279 | OMIM:616067
ClinVar Annotator: match by term: 46,XY DSD/46,XY CGD
MouseDO
ClinVar
RGD
PMID:11017805 RGD:1601053 NCBI chr 7:130,050,910...130,056,406
Ensembl chr 7:130,050,910...130,056,406
JBrowse link
G Dmrt1 doublesex and mab-3 related transcription factor 1 ISO ClinVar Annotator: match by term: Pure gonadal dysgenesis 46,XY ClinVar PMID:25741868 NCBI chr 1:223,142,859...223,241,333
Ensembl chr 1:223,142,859...223,241,333
JBrowse link
G Nr5a1 nuclear receptor subfamily 5, group A, member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10369247 PMID:11932325 PMID:15070943 NCBI chr 3:22,464,786...22,486,328
Ensembl chr 3:22,465,502...22,486,328
JBrowse link
G Sry sex determining region Y ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:27576690 PMID:2247151 PMID:8257986 RGD:1599179, RGD:1598780 NCBI chr  Y:440,551...443,183 JBrowse link
46,XY Partial Gonadal Dysgenesis, with Minifascicular Neuropathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dhh desert hedgehog signaling molecule ISO ClinVar Annotator: match by term: 46,XY gonadal dysgenesis, partial, with minifascicular neuropathy OMIM
ClinVar
PMID:11017805 PMID:11891836 PMID:25927242 PMID:28589169 PMID:28708305 More... NCBI chr 7:130,050,910...130,056,406
Ensembl chr 7:130,050,910...130,056,406
JBrowse link
46,XY 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 ISO ClinVar Annotator: match by term: 46,XY sex reversal 1 OMIM
ClinVar
PMID:1339396 PMID:1415266 PMID:1483689 PMID:1570829 PMID:1619028 More... NCBI chr  Y:440,551...443,183 JBrowse link
46,XY sex reversal 10 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,XY sex reversal 10 OMIM
ClinVar
PMID:567843 PMID:6620326 PMID:22051515 PMID:25604083 NCBI chr10:97,806,485...97,811,994
Ensembl chr10:97,806,485...97,811,994
JBrowse link
46,XY sex reversal 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nr0b1 nuclear receptor subfamily 0, group B, member 1 ISO ClinVar Annotator: match by term: 46,XY sex reversal 2 OMIM
ClinVar
PMID:9486644 NCBI chr  X:50,756,886...50,761,014
Ensembl chr  X:50,756,886...50,761,011
JBrowse link
46,XY sex reversal 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gata4 GATA binding protein 4 ISO ClinVar Annotator: match by term: 46,XY sex reversal 3 | ClinVar Annotator: match by term: DISORDER OF SEX DEVELOPMENT, 46,XY, NR5A1-RELATED ClinVar PMID:17643447 PMID:18672102 PMID:19302747 PMID:19678963 PMID:21110066 More... NCBI chr15:37,459,601...37,531,291
Ensembl chr15:37,459,601...37,505,636
JBrowse link
G Nr5a1 nuclear receptor subfamily 5, group A, member 1 ISO ClinVar Annotator: match by term: 46,XY sex reversal 3 OMIM
ClinVar
PMID:11932325 PMID:15070943 PMID:15472171 PMID:15579739 PMID:17200175 More... NCBI chr 3:22,464,786...22,486,328
Ensembl chr 3:22,465,502...22,486,328
JBrowse link
G Zfpm2 zinc finger protein, multitype 2 ISO ClinVar Annotator: match by term: 46,XY sex reversal 3 ClinVar PMID:14517948 PMID:17568391 PMID:20807224 PMID:21919901 PMID:24033266 More... NCBI chr 7:71,678,658...72,116,209
Ensembl chr 7:71,678,880...72,116,205
JBrowse link
46,XY sex reversal 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dmrt1 doublesex and mab-3 related transcription factor 1 ISO ClinVar Annotator: match by term: 46,XY sex reversal 4 ClinVar PMID:25741868 NCBI chr 1:223,142,859...223,241,333
Ensembl chr 1:223,142,859...223,241,333
JBrowse link
46,XY sex reversal 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cbx2 chromobox 2 ISO ClinVar Annotator: match by term: 46,XY sex reversal 5 OMIM
ClinVar
PMID:19361780 PMID:25741868 NCBI chr10:104,278,517...104,287,384
Ensembl chr10:104,278,549...104,287,383
JBrowse link
46,XY sex reversal 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Map3k1 mitogen-activated protein kinase kinase kinase 1 ISO ClinVar Annotator: match by term: 46,XY sex reversal 6 OMIM
ClinVar
PMID:5419329 PMID:11242112 PMID:12476449 PMID:20301714 PMID:21129722 More... NCBI chr 2:43,348,572...43,414,706
Ensembl chr 2:43,350,098...43,414,463
JBrowse link
46,XY sex reversal 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dhh desert hedgehog signaling molecule ISO ClinVar Annotator: match by term: 46,XY sex reversal 7 OMIM
ClinVar
PMID:15356051 PMID:25741868 PMID:28492532 PMID:30298535 NCBI chr 7:130,050,910...130,056,406
Ensembl chr 7:130,050,910...130,056,406
JBrowse link
46,XY sex reversal 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akr1c2 aldo-keto reductase family 1, member C2 ISO ClinVar Annotator: match by term: 46,XY sex reversal 8 OMIM
ClinVar
PMID:4352099 PMID:21802064 PMID:25741868 NCBI chr17:65,759,778...65,808,013
Ensembl chr17:65,759,788...65,775,764
JBrowse link
46,XY sex reversal 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zfpm2 zinc finger protein, multitype 2 ISO ClinVar Annotator: match by term: 46,XY sex reversal 9 OMIM
ClinVar
PMID:14517948 PMID:17568391 PMID:20807224 PMID:21919901 PMID:24033266 More... NCBI chr 7:71,678,658...72,116,209
Ensembl chr 7:71,678,880...72,116,205
JBrowse link
Anorchia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dhx37 DEAH-box helicase 37 ISO ClinVar Annotator: match by term: TESTICULAR REGRESSION, EMBRYONIC | ClinVar Annotator: match by term: Testicular regression syndrome OMIM
ClinVar
PMID:25741868 PMID:26539891 PMID:31287541 PMID:31337883 NCBI chr12:31,194,782...31,214,890
Ensembl chr12:31,194,859...31,216,802
JBrowse link
G Lhcgr luteinizing hormone/choriogonadotropin receptor ISO ClinVar Annotator: match by term: Testicular regression syndrome ClinVar PMID:25741868 NCBI chr 6:5,661,871...5,728,109
Ensembl chr 6:5,661,871...5,724,521
JBrowse link
congenital adrenal insufficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp11a1 cytochrome P450, family 11, subfamily a, polypeptide 1 ISO ClinVar Annotator: match by term: Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete | ClinVar Annotator: match by term: Congenital Adrenal Insufficiency | ClinVar Annotator: match by term: P450scc DEFICIENCY OMIM
ClinVar
PMID:11502818 PMID:12161514 PMID:15507506 PMID:16705068 PMID:18182448 More... NCBI chr 8:58,422,807...58,434,342
Ensembl chr 8:58,404,669...58,434,338
JBrowse link
Meacham Winn Culler Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wt1 WT1 transcription factor ISO ClinVar Annotator: match by term: Meacham syndrome OMIM
ClinVar
PMID:1302008 PMID:1317572 PMID:1327525 PMID:1338906 PMID:1655284 More... NCBI chr 3:91,566,540...91,613,653
Ensembl chr 3:91,567,001...91,613,643
JBrowse link
Myoectodermal Gonadal Dysgenesis Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ppp2r3c protein phosphatase 2, regulatory subunit B'', gamma ISO ClinVar Annotator: match by term: Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy OMIM
ClinVar
PMID:8849014 PMID:25741868 PMID:30893644 PMID:34714774 PMID:34750818 More... NCBI chr 6:72,647,025...72,670,885
Ensembl chr 6:72,647,025...72,672,491
JBrowse link
G Prorp protein only RNase P catalytic subunit ISO ClinVar Annotator: match by term: Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy ClinVar PMID:25741868 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 18256
    disease of anatomical entity 17617
      endocrine system disease 6241
        gonadal disease 1124
          disorder of sexual development 216
            gonadal dysgenesis 55
              46,XY sex reversal 19
                46, XY Female 0
                46,XY Partial Gonadal Dysgenesis, with Minifascicular Neuropathy 1
                46,XY sex reversal 1 1
                46,XY sex reversal 10 1
                46,XY sex reversal 2 1
                46,XY sex reversal 3 3
                46,XY sex reversal 4 1
                46,XY sex reversal 5 1
                46,XY sex reversal 6 1
                46,XY sex reversal 7 1
                46,XY sex reversal 8 1
                46,XY sex reversal 9 1
                46,Xy Gonadal Dysgenesis, Complete, Sry-Related 0
                Agonadism, XY, with Mental Retardation, Short Stature, Retarded Bone Age, and Multiple Extragenital Malformations 0
                Alopecia Universalis Congenita, XY Gonadal Dysgenesis, and Laryngomalacia 0
                Anorchia 2
                Genito Palato Cardiac Syndrome 0
                Meacham Winn Culler Syndrome 1
                Myoectodermal Gonadal Dysgenesis Syndrome 2
                Spastic Paraplegia, Optic Atrophy, Microcephaly, and XY Sex Reversal 0
                congenital adrenal insufficiency 1
                gonadoblastoma + 0
Path 2
Term Annotations click to browse term
  disease 18256
    Developmental Disease 13110
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11866
        Congenital Abnormalities 6831
          Urogenital Abnormalities 390
            disorder of sexual development 216
              46, XY Disorders of Sex Development 69
                46,XY sex reversal 19
                  46, XY Female 0
                  46,XY Partial Gonadal Dysgenesis, with Minifascicular Neuropathy 1
                  46,XY sex reversal 1 1
                  46,XY sex reversal 10 1
                  46,XY sex reversal 2 1
                  46,XY sex reversal 3 3
                  46,XY sex reversal 4 1
                  46,XY sex reversal 5 1
                  46,XY sex reversal 6 1
                  46,XY sex reversal 7 1
                  46,XY sex reversal 8 1
                  46,XY sex reversal 9 1
                  46,Xy Gonadal Dysgenesis, Complete, Sry-Related 0
                  Agonadism, XY, with Mental Retardation, Short Stature, Retarded Bone Age, and Multiple Extragenital Malformations 0
                  Alopecia Universalis Congenita, XY Gonadal Dysgenesis, and Laryngomalacia 0
                  Anorchia 2
                  Genito Palato Cardiac Syndrome 0
                  Meacham Winn Culler Syndrome 1
                  Myoectodermal Gonadal Dysgenesis Syndrome 2
                  Spastic Paraplegia, Optic Atrophy, Microcephaly, and XY Sex Reversal 0
                  congenital adrenal insufficiency 1
                  gonadoblastoma + 0
paths to the root