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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 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		 PMID:11017805 RGD:1601053 NCBI chr 7:140,575,288...140,580,783
Ensembl chr 7:140,575,288...140,580,783 		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 1:243,477,403...243,582,629
Ensembl chr 1:243,477,493...243,582,629 		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 3:22,998,900...23,020,441
Ensembl chr 3:22,999,616...23,020,441 		JBrowse link
G Sry sex determining region Y ISO CTD Direct Evidence: marker/mechanism CTD PMID:27576690, PMID:2247151, PMID:8257986 RGD:1599179, RGD:1598780 NCBI chr  Y:327,176...327,685
Ensembl chr  Y:327,166...329,299 		JBrowse link
46,Xy Gonadal Dysgenesis, Complete, Sry-Related 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: SRY-related 46,XY complete gonadal dysgenesis ClinVar PMID:1339396 PMID:1415266 PMID:1438307 PMID:1483689 PMID:1570829 PMID:1619028 PMID:1639410 PMID:1734522 PMID:1956279 PMID:2247149 PMID:2247151 PMID:2401216 PMID:7718558 PMID:7985018 PMID:7987333 PMID:8019555 PMID:8105086 PMID:8257986 PMID:8353496 PMID:9150734 PMID:9443877 PMID:9450909 PMID:9521592 PMID:10843173 PMID:10852465 PMID:12107262 PMID:12409269 PMID:12793612 PMID:20528776 PMID:25741868 PMID:28492532 PMID:28787711 NCBI chr  Y:327,176...327,685
Ensembl chr  Y:327,166...329,299 		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
ClinVar Annotator: match by OMIM:607080		 OMIM
ClinVar		 PMID:11017805 PMID:11891836 PMID:25927242 PMID:28589169 PMID:28708305 PMID:29471294 NCBI chr 7:140,575,288...140,580,783
Ensembl chr 7:140,575,288...140,580,783 		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, SRY-RELATED
ClinVar Annotator: match by OMIM:400044		 OMIM
ClinVar		 PMID:1339396 PMID:1415266 PMID:1438307 PMID:1483689 PMID:1570829 PMID:1619028 PMID:1639410 PMID:1734522 PMID:1956279 PMID:2247149 PMID:2247151 PMID:2401216 PMID:7718558 PMID:7985018 PMID:7987333 PMID:8019555 PMID:8105086 PMID:8257986 PMID:8353496 PMID:9150734 PMID:9443877 PMID:9450909 PMID:9521592 PMID:10843173 PMID:10852465 PMID:12107262 PMID:12409269 PMID:12793612 PMID:20528776 PMID:25741868 PMID:28492532 PMID:28787711 NCBI chr  Y:327,176...327,685
Ensembl chr  Y:327,166...329,299 		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 OMIM:616425 ClinVar
OMIM		 PMID:567843 PMID:6620326 PMID:22051515 PMID:25604083 NCBI chr10:101,288,528...101,294,030
Ensembl chr10:101,288,489...101,293,379 		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 OMIM:300018 OMIM
ClinVar		 PMID:9486644 NCBI chr  X:54,734,385...54,738,513
Ensembl chr  X:54,734,385...54,738,513 		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: DISORDER OF SEX DEVELOPMENT, 46,XY, NR5A1-RELATED ClinVar PMID:17643447 PMID:18672102 PMID:19302747 PMID:19678963 PMID:21110066 PMID:21519287 PMID:22011241 PMID:24033266 PMID:25741868 PMID:26014430 PMID:26490186 PMID:26997702 PMID:27899157 PMID:28492532 PMID:29368431 NCBI chr15:46,386,703...46,458,679
Ensembl chr15:46,386,712...46,432,965 		JBrowse link
G Nr5a1 nuclear receptor subfamily 5, group A, member 1 ISO ClinVar Annotator: match by term: DISORDER OF SEX DEVELOPMENT, 46,XY, NR5A1-RELATED
ClinVar Annotator: match by term: 46,XY SEX REVERSAL, PARTIAL OR COMPLETE, NR5A1-RELATED		 ClinVar
OMIM		 PMID:11932325 PMID:15070943 PMID:15472171 PMID:15579739 PMID:17200175 PMID:18414213 PMID:19246354 PMID:22028768 PMID:22907560 PMID:23154282 PMID:25122490 PMID:25326637 PMID:25383892 PMID:25741868 PMID:26523528 PMID:27169744 PMID:27378692 PMID:27490115 PMID:27610946 PMID:27855412 PMID:28492532 NCBI chr 3:22,998,900...23,020,441
Ensembl chr 3:22,999,616...23,020,441 		JBrowse link
G Zfpm2 zinc finger protein, multitype 2 ISO ClinVar Annotator: match by term: DISORDER OF SEX DEVELOPMENT, 46,XY, NR5A1-RELATED ClinVar PMID:14517948 PMID:17568391 PMID:20807224 PMID:21919901 PMID:24033266 PMID:24549039 PMID:24702427 PMID:25741868 PMID:28492532 NCBI chr 7:79,471,277...79,964,405
Ensembl chr 7:79,638,046...79,964,405 		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 GONADAL DYSGENESIS, PARTIAL OR COMPLETE, WITH 9p24.3 DELETION ClinVar PMID:25741868 NCBI chr 1:243,477,403...243,582,629
Ensembl chr 1:243,477,493...243,582,629 		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 OMIM:613080 OMIM
ClinVar		 PMID:19361780 PMID:25741868 NCBI chr10:108,132,105...108,140,935
Ensembl chr10:108,132,105...108,140,935 		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, type 6
ClinVar Annotator: match by term: 46,XY GONADAL DYSGENESIS, PARTIAL OR COMPLETE, MAP3K1-RELATED
ClinVar Annotator: match by OMIM:613762		 OMIM
ClinVar		 PMID:5419329 PMID:12476449 PMID:21129722 PMID:25326637 PMID:25741868 PMID:28492532 PMID:28504475 NCBI chr 2:43,329,516...43,393,203
Ensembl chr 2:43,329,516...43,393,207 		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 gonadal dysgenesis, complete, dhh-related
ClinVar Annotator: match by term: DHH-Related 46,XY complete gonadal dysgenesis
ClinVar Annotator: match by OMIM:233420		 OMIM
ClinVar		 PMID:15356051 PMID:25741868 PMID:28492532 PMID:30298535 NCBI chr 7:140,575,288...140,580,783
Ensembl chr 7:140,575,288...140,580,783 		JBrowse link
46,XY sex reversal 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akr1c1 aldo-keto reductase family 1, member C1 ISO ClinVar Annotator: match by OMIM:614279 OMIM
ClinVar		 PMID:4352099 PMID:21802064 NCBI chr17:69,441,253...69,460,334
Ensembl chr17:69,441,223...69,460,321 		JBrowse link
G Akr1c2 aldo-keto reductase family 1, member C2 ISO ClinVar Annotator: match by term: 46,XY sex reversal 8
ClinVar Annotator: match by OMIM:614279		 OMIM
ClinVar		 PMID:4352099 PMID:21802064 PMID:25741868 NCBI chr17:69,388,337...69,435,160
Ensembl chr17:69,388,335...69,404,341 		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 OMIM:616067
ClinVar Annotator: match by term: 46,XY SEX REVERSAL, ZFPM2-RELATED
ClinVar Annotator: match by term: 46,XY sex reversal 9		 ClinVar
OMIM		 PMID:14517948 PMID:17568391 PMID:20807224 PMID:21919901 PMID:24033266 PMID:24549039 PMID:24702427 PMID:25741868 PMID:28492532 NCBI chr 7:79,471,277...79,964,405
Ensembl chr 7:79,638,046...79,964,405 		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: Congenital absence of testes OMIM
ClinVar		 PMID:31287541 PMID:31337883 NCBI chr12:36,594,058...36,614,165
Ensembl chr12:36,594,047...36,614,210 		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 OMIM:613743		 OMIM
ClinVar		 PMID:11502818 PMID:12161514 PMID:15507506 PMID:16705068 PMID:18182448 PMID:19116240 PMID:21159840 PMID:24033266 PMID:25741868 PMID:26300845 PMID:27008691 PMID:28492532 NCBI chr 8:62,798,317...62,809,848
Ensembl chr 8:62,779,875...62,809,893 		JBrowse link
Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy and Myopathy 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 ClinVar
OMIM		 PMID:30893644 NCBI chr 6:76,056,585...76,079,755
Ensembl chr 6:76,056,499...76,079,664 		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
ClinVar Annotator: match by OMIM:608978		 OMIM
ClinVar		 PMID:1302008 PMID:1317572 PMID:1327525 PMID:1338906 PMID:1655284 PMID:6307071 PMID:7795587 PMID:8295405 PMID:8810912 PMID:9090524 PMID:9529364 PMID:9607189 PMID:9916932 PMID:10470095 PMID:10505700 PMID:10603123 PMID:11182928 PMID:12970737 PMID:15150775 PMID:15266301 PMID:15483024 PMID:15509792 PMID:17496156 PMID:17541636 PMID:17853480 PMID:18559874 PMID:18591546 PMID:19171881 PMID:19221039 PMID:19494353 PMID:19536888 PMID:20368469 PMID:20413658 PMID:20435628 PMID:22099579 PMID:22172722 PMID:23325811 PMID:23497137 PMID:23562652 PMID:23715653 PMID:23935527 PMID:24033266 PMID:24728327 PMID:25110071 PMID:25501161 PMID:25741868 PMID:25818337 PMID:25932436 PMID:26069768 PMID:26358501 PMID:26467025 PMID:26725263 PMID:27013732 PMID:27300205 PMID:27899157 PMID:28204945 PMID:28492532 PMID:29474669 PMID:30963316 PMID:31937884 PMID:32581362 NCBI chr 3:95,133,221...95,180,574
Ensembl chr 3:95,133,713...95,180,564 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      endocrine system disease 5010
        gonadal disease 917
          disorder of sexual development 151
            gonadal dysgenesis 49
              46,XY sex reversal 16
                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 2
                46,XY sex reversal 9 1
                46,Xy Gonadal Dysgenesis, Complete, Sry-Related 1
                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 1
                Genito Palato Cardiac Syndrome 0
                Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy and Myopathy 1
                Gonadal Dysgenesis, XY Type, with Associated Anomalies 0
                Kennerknecht Vogel Syndrome 0
                Meacham Winn Culler Syndrome 1
                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 16123
    Developmental Diseases 9597
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8441
        Congenital Abnormalities 4761
          Urogenital Abnormalities 255
            disorder of sexual development 151
              46, XY Disorders of Sex Development 41
                46,XY sex reversal 16
                  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 2
                  46,XY sex reversal 9 1
                  46,Xy Gonadal Dysgenesis, Complete, Sry-Related 1
                  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 1
                  Genito Palato Cardiac Syndrome 0
                  Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy and Myopathy 1
                  Gonadal Dysgenesis, XY Type, with Associated Anomalies 0
                  Kennerknecht Vogel Syndrome 0
                  Meacham Winn Culler Syndrome 1
                  Spastic Paraplegia, Optic Atrophy, Microcephaly, and XY Sex Reversal 0
                  congenital adrenal insufficiency 1
                  gonadoblastoma + 0
paths to the root