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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:gonadal dysgenesis
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Accession:DOID:14447 term browser browse the term
Definition:A disorder of sexual development that is characterized by a progressive loss of germ cells on the developing gonads of an embryo. (DO)
Synonyms:exact_synonym: gonadal agenesis;   gonadal dysgenesis syndrome
 primary_id: MESH:D006059
 alt_id: MIM:600171
 xref: GARD:2538;   ICD9CM:758.6;   NCI:C61420
For additional species annotation, visit the Alliance of Genome Resources.



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gonadal dysgenesis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CBX2 chromobox 2 no_association ISO RGD PMID:23219007 RGD:9586730 NCBI chr12:2,570,841...2,580,336
Ensembl chr12:2,570,851...2,580,337
JBrowse link
G DMRT2 doublesex and mab-3 related transcription factor 2 ISO ClinVar Annotator: match by term: Gonadal agenesis ClinVar PMID:25741868 NCBI chr 1:220,745,493...220,799,779
Ensembl chr 1:220,745,502...220,757,324
JBrowse link
G FMR1 Fragile X messenger ribonucleoprotein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22043169 NCBI chr  X:120,361,232...120,400,282
Ensembl chr  X:120,361,367...120,399,831
JBrowse link
G FSHR follicle stimulating hormone receptor ISO ClinVar Annotator: match by term: Gonadal dysgenesis ClinVar PMID:10022448 PMID:22414334 PMID:28492532 NCBI chr 3:91,607,236...91,775,255
Ensembl chr 3:91,607,305...91,774,683
JBrowse link
G NR5A1 nuclear receptor subfamily 5 group A member 1 treatment ISO RGD PMID:16467257 RGD:12904919 NCBI chr 1:265,284,491...265,311,547
Ensembl chr 1:265,284,493...265,311,417
JBrowse link
G TSPYL1 TSPY like 1 ISO sudden infant death with dysgenesis of the testes syndrome (SIDDT), OMIM:608800 RGD PMID:15273283 RGD:1599672 NCBI chr 1:81,906,168...81,909,461
Ensembl chr 1:81,908,075...81,909,249
JBrowse link
G WT1 WT1 transcription factor ISO ClinVar Annotator: match by term: Gonadal dysgenesis ClinVar PMID:25741868 NCBI chr 2:28,411,467...28,456,007
Ensembl chr 2:28,411,803...28,455,997
JBrowse link
46 XX gonadal dysgenesis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FANCL FA complementation group L ISO OMIM:233300 | OMIM:278850 | OMIM:300833 | OMIM:400045 | OMIM:611812 | OMIM:614324 MouseDO NCBI chr 3:83,136,355...83,436,948
Ensembl chr 3:83,337,253...83,436,942
JBrowse link
G FSHR follicle stimulating hormone receptor ISO ClinVar Annotator: match by term: Gonadal dysgenesis, XX type | ClinVar Annotator: match by term: Ovarian dysgenesis ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:91,607,236...91,775,255
Ensembl chr 3:91,607,305...91,774,683
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 chr13:80,006,656...80,232,107
Ensembl chr13:79,981,796...80,232,773
JBrowse link
G NR5A1 nuclear receptor subfamily 5 group A member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19246354 NCBI chr 1:265,284,491...265,311,547
Ensembl chr 1:265,284,493...265,311,417
JBrowse link
46,XX 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,XX sex reversal 1 OMIM
ClinVar
PMID:25741868 NCBI chr  Y:40,484,990...40,485,700
Ensembl chr  Y:40,484,990...40,485,700
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 ClinVar Annotator: match by term: 46,XX sex reversal 2 ClinVar
OMIM
PMID:21208124 PMID:22051515 NCBI chr12:8,642,154...8,647,315
Ensembl chr12:8,642,158...8,647,315
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 ClinVar Annotator: match by term: 46,XX sex reversal 4 OMIM
ClinVar
PMID:11932325 PMID:22549935 PMID:25741868 PMID:26523528 PMID:27378692 More... NCBI chr 1:265,284,491...265,311,547
Ensembl chr 1:265,284,493...265,311,417
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 ClinVar Annotator: match by term: 46,xx sex reversal 5 OMIM
ClinVar
PMID:25741868 PMID:27363585 PMID:29478779 NCBI chr 7:83,076,119...83,090,250
Ensembl chr 7:83,076,124...83,090,535
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:25741868 PMID:28492532 PMID:29566152 NCBI chr13:80,006,656...80,232,107
Ensembl chr13:79,981,796...80,232,773
JBrowse link
G WNT4 Wnt family member 4 ISO ClinVar Annotator: match by term: SERKAL syndrome | ClinVar Annotator: match by term: WNT4-related condition OMIM
ClinVar
PMID:18179883 PMID:25741868 PMID:28492532 NCBI chr 6:80,110,238...80,138,165 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 5:15,114,524...15,119,610
Ensembl chr 5:15,114,527...15,119,577
JBrowse link
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:25741868 NCBI chr  X:53,609,113...53,806,778
Ensembl chr  X:53,609,176...53,800,677
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 4:72,572,455...72,754,443
Ensembl chr 4:72,573,453...72,694,146
JBrowse link
G DHH desert hedgehog signaling molecule susceptibility ISO DNA:missense mutation:exon
ClinVar Annotator: match by term: 46,XY DSD/46,XY CGD
RGD
ClinVar
PMID:11017805 RGD:1601053 NCBI chr 5:15,114,524...15,119,610
Ensembl chr 5:15,114,527...15,119,577
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 1:220,841,485...220,953,442
Ensembl chr 1:220,841,488...220,953,442
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 1:265,284,491...265,311,547
Ensembl chr 1:265,284,493...265,311,417
JBrowse link
G SRY sex determining region Y ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:2247151 PMID:8257986 PMID:27576690 RGD:1598780 RGD:1599179 NCBI chr  Y:40,484,990...40,485,700
Ensembl chr  Y:40,484,990...40,485,700
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:1438307 PMID:1483689 PMID:1570829 More... NCBI chr  Y:40,484,990...40,485,700
Ensembl chr  Y:40,484,990...40,485,700
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 ClinVar
OMIM
PMID:6620326 PMID:22051515 PMID:25604083 NCBI chr12:8,642,154...8,647,315
Ensembl chr12:8,642,158...8,647,315
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 | ClinVar Annotator: match by term: 46XY sex reversal 2, dosage-sensitive OMIM
ClinVar
PMID:7990958 PMID:9195207 PMID:9486644 PMID:9529340 PMID:10599709 More... NCBI chr  X:26,117,874...26,122,951
Ensembl chr  X:26,117,874...26,122,951
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 chr14:14,858,470...14,938,156
Ensembl chr14:14,884,662...14,939,941
JBrowse link
G NR5A1 nuclear receptor subfamily 5 group A member 1 ISO ClinVar Annotator: match by term: 46,XY sex reversal 3 | ClinVar Annotator: match by term: DISORDER OF SEX DEVELOPMENT, 46,XY, NR5A1-RELATED OMIM
ClinVar
PMID:9536098 PMID:11932325 PMID:15070943 PMID:15472171 PMID:15579739 More... NCBI chr 1:265,284,491...265,311,547
Ensembl chr 1:265,284,493...265,311,417
JBrowse link
G ZFPM2 zinc finger protein, FOG family member 2 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:14517948 PMID:17568391 PMID:20807224 PMID:21919901 PMID:24033266 More... NCBI chr 4:31,607,968...31,996,226
Ensembl chr 4:31,606,773...32,094,287
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 1:220,841,485...220,953,442
Ensembl chr 1:220,841,488...220,953,442
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 | ClinVar Annotator: match by term: CBX2-related condition OMIM
ClinVar
PMID:19361780 PMID:25741868 PMID:28492532 NCBI chr12:2,570,841...2,580,336
Ensembl chr12:2,570,851...2,580,337
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 GONADAL DYSGENESIS, PARTIAL OR COMPLETE, MAP3K1-RELATED | ClinVar Annotator: match by term: 46,XY SEX REVERSAL, PARTIAL OR COMPLETE, MAP3K1-RELATED | ClinVar Annotator: match by term: 46,XY sex reversal 6 OMIM
ClinVar
PMID:5419329 PMID:11242112 PMID:12476449 PMID:20301714 PMID:21129722 More... NCBI chr16:35,872,301...35,947,097
Ensembl chr16:35,872,131...35,946,987
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 | ClinVar Annotator: match by term: DHH-Related 46,XY complete gonadal dysgenesis OMIM
ClinVar
PMID:15356051 PMID:25741868 PMID:28492532 PMID:30298535 NCBI chr 5:15,114,524...15,119,610
Ensembl chr 5:15,114,527...15,119,577
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, FOG family member 2 ISO ClinVar Annotator: match by term: 46,XY SEX REVERSAL, ZFPM2-RELATED | ClinVar Annotator: match by term: 46,XY sex reversal 9 OMIM
ClinVar
PMID:9536098 PMID:14517948 PMID:17568391 PMID:17576681 PMID:20807224 More... NCBI chr 4:31,607,968...31,996,226
Ensembl chr 4:31,606,773...32,094,287
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 | ClinVar Annotator: match by term: TESTICULAR REGRESSION, EMBRYONIC OMIM
ClinVar
PMID:25741868 PMID:26539891 PMID:28492532 PMID:30582406 PMID:31287541 More... NCBI chr14:28,206,152...28,242,436
Ensembl chr14:28,211,579...28,242,435
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 member 1 ISO ClinVar Annotator: match by term: Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete | ClinVar Annotator: match by term: CYP11A1-related condition | ClinVar Annotator: match by term: Congenital Adrenal Insufficiency | ClinVar Annotator: match by term: P450scc DEFICIENCY OMIM
ClinVar
PMID:9536098 PMID:11502818 PMID:12161514 PMID:15507506 PMID:16705068 More... NCBI chr 7:59,172,829...59,188,479
Ensembl chr 7:59,175,758...59,188,478
JBrowse link
dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LMNA lamin A/C ISO ClinVar Annotator: match by term: Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome | ClinVar Annotator: match by term: Genital anomaly with cardiomyopathy OMIM
ClinVar
PMID:2007407 PMID:2270059 PMID:2733290 PMID:4684700 PMID:9500556 More... NCBI chr 4:93,899,019...93,927,255
Ensembl chr 4:93,899,019...93,926,320
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 Winn Culler syndrome | ClinVar Annotator: match by term: Meacham syndrome OMIM
ClinVar
PMID:1302008 PMID:1317572 PMID:1327525 PMID:1338906 PMID:1655284 More... NCBI chr 2:28,411,467...28,456,007
Ensembl chr 2:28,411,803...28,455,997
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: BROSNAN-KENNERKNECHT-GURAN-KOC SYNDROME | 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 7:64,762,863...64,789,919
Ensembl chr 7:64,763,050...64,789,921
JBrowse link
G PRORP protein only RNase P catalytic subunit ISO ClinVar Annotator: match by term: BROSNAN-KENNERKNECHT-GURAN-KOC SYNDROME ClinVar PMID:25741868 NCBI chr 7:64,620,514...64,763,272
Ensembl chr 7:64,620,517...64,762,428
JBrowse link
G SLC35A2 solute carrier family 35 member A2 ISO ClinVar Annotator: match by term: 46,XY agonadism with mental retardation, short stature, retarded bone age, and multiple extragenital malformations ClinVar PMID:25741868 PMID:34161696 NCBI chr  X:42,981,801...42,992,091
Ensembl chr  X:42,981,802...42,992,081
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 ClinVar Annotator: match by term: FSHR-related condition | ClinVar Annotator: match by term: Ovarian dysgenesis 1 OMIM
ClinVar
PMID:7553856 PMID:8855829 PMID:9020851 PMID:9769327 PMID:9851774 More... NCBI chr 3:91,607,236...91,775,255
Ensembl chr 3:91,607,305...91,774,683
JBrowse link
ovarian dysgenesis 10 term browser
Symbol Object Name Qualifiers 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 chr12:59,418,905...59,434,689
Ensembl chr12:59,418,924...59,436,604
JBrowse link
Ovarian Dysgenesis 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HROB homologous recombination factor with OB-fold ISO ClinVar Annotator: match by term: Ovarian dysgenesis 11 OMIM
ClinVar
PMID:34707299 PMID:38105698 NCBI chr12:19,044,569...19,077,877
Ensembl chr12:19,044,043...19,077,829
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 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 More... NCBI chr  X:44,613,122...44,620,575
Ensembl chr  X:44,613,122...44,620,575
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 chr12:20,249,760...20,257,543
Ensembl chr12:20,249,761...20,257,526
JBrowse link
G NRXN1 neurexin 1 ISO ClinVar Annotator: match by term: Ovarian dysgenesis 3 ClinVar PMID:28492532 NCBI chr 3:89,799,426...90,914,205
Ensembl chr 3:89,803,519...90,382,034
JBrowse link
G PSMC3IP PSMC3 interacting protein ISO ClinVar Annotator: match by term: Ovarian dysgenesis 3 | ClinVar Annotator: match by term: PSMC3IP-related condition OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:31042289 NCBI chr12:20,244,243...20,250,151
Ensembl chr12:20,244,304...20,250,159
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 ClinVar Annotator: match by term: MCM9-related condition | ClinVar Annotator: match by term: OVARIAN DYSGENESIS 4 OMIM
ClinVar
PMID:25480036 PMID:25741868 PMID:26771056 PMID:28492532 PMID:31042289 NCBI chr 1:43,171,906...43,268,533
Ensembl chr 1:43,171,892...43,269,169
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 ClinVar Annotator: match by term: Ovarian dysgenesis 5 OMIM
ClinVar
PMID:17301727 PMID:20506135 PMID:25741868 PMID:25774885 PMID:28492532 More...
ovarian dysgenesis 6 term browser
Symbol Object Name Qualifiers 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 PMID:34707299 NCBI chr 5:32,989,661...33,040,565
Ensembl chr 5:32,989,794...33,042,575
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 ClinVar Annotator: match by term: Ovarian dysgenesis 7 OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:29566152 PMID:31042289 NCBI chr13:80,006,656...80,232,107
Ensembl chr13:79,981,796...80,232,773
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 ClinVar Annotator: match by term: ESR2-related condition | ClinVar Annotator: match by term: Ovarian dysgenesis 8 OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:30113650 NCBI chr 1:193,823,666...193,907,330
Ensembl chr 1:193,829,560...193,906,565
JBrowse link
ovarian dysgenesis 9 term browser
Symbol Object Name Qualifiers 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 chr 4:79,874,937...80,190,744
Ensembl chr 4:79,874,831...80,190,655
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 6:93,664,839...93,690,328
Ensembl chr 6:93,665,121...93,685,197
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 ClinVar Annotator: match by term: Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,XX sex reversal | ClinVar Annotator: match by term: RSPO1-related condition OMIM
ClinVar
PMID:16158431 PMID:17041600 PMID:25741868 PMID:28492532 NCBI chr 6:93,664,839...93,690,328
Ensembl chr 6:93,665,121...93,685,197
JBrowse link
Perrault syndrome term browser
Symbol Object Name Qualifiers 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 ClinVar PMID:17690910 PMID:21660509 PMID:22037954 PMID:23541340 PMID:24824130 NCBI chr 2:72,707,363...72,713,481
Ensembl chr 2:72,707,158...72,713,475
JBrowse link
G ERAL1 Era like 12S mitochondrial rRNA chaperone 1 ISO ClinVar Annotator: match by term: Perrault syndrome ClinVar PMID:28449065 NCBI chr12:45,082,931...45,091,278
Ensembl chr12:45,083,003...45,088,673
JBrowse link
G HARS2 histidyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Perrault syndrome ClinVar PMID:517579 PMID:21464306 PMID:25741868 PMID:28492532 PMID:31827252 NCBI chr 2:142,401,279...142,410,253
Ensembl chr 2:142,401,328...142,409,619
JBrowse link
G HSD17B4 hydroxysteroid 17-beta dehydrogenase 4 ISO ClinVar Annotator: match by term: Perrault syndrome ClinVar PMID:4061497 PMID:9482850 PMID:9536098 PMID:9915948 PMID:10419023 More... NCBI chr 2:123,313,445...123,401,386
Ensembl chr 2:123,313,448...123,402,709
JBrowse link
G LARS2 leucyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Perrault syndrome ClinVar PMID:23541342 PMID:24033266 PMID:25741868 PMID:26467025 PMID:26537577 More... NCBI chr13:28,524,778...28,692,327
Ensembl chr13:28,524,796...28,692,327
JBrowse link
G TWNK twinkle mtDNA helicase ISO ClinVar Annotator: match by term: Perrault syndrome ClinVar PMID:25355836 PMID:25741868 PMID:26206283 PMID:26467025 PMID:26970254 More... NCBI chr14:112,068,463...112,076,169
Ensembl chr14:112,069,925...112,075,792
JBrowse link
Perrault Syndrome 1 term browser
Symbol Object Name Qualifiers 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 2:72,707,363...72,713,481
Ensembl chr 2:72,707,158...72,713,475
JBrowse link
G DAP3 death associated protein 3 ISO ClinVar Annotator: match by term: Perrault syndrome 1 ClinVar NCBI chr 4:94,256,460...94,298,492
Ensembl chr 4:94,262,332...94,297,223
JBrowse link
G FBN1 fibrillin 1 ISO ClinVar Annotator: match by term: Perrault syndrome 1 ClinVar PMID:25741868 NCBI chr 1:123,102,011...123,359,649
Ensembl chr 1:123,102,009...123,359,649
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 3:91,607,236...91,775,255
Ensembl chr 3:91,607,305...91,774,683
JBrowse link
G GON4L gon-4 like ISO ClinVar Annotator: match by term: Perrault syndrome 1 ClinVar NCBI chr 4:94,161,887...94,248,785 JBrowse link
G HSD17B4 hydroxysteroid 17-beta dehydrogenase 4 ISO ClinVar Annotator: match by term: Gonadal dysgenesis XX type deafness | 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 OMIM
ClinVar
PMID:4061497 PMID:9482850 PMID:9536098 PMID:9915948 PMID:10419023 More... NCBI chr 2:123,313,445...123,401,386
Ensembl chr 2:123,313,448...123,402,709
JBrowse link
G MRPL49 mitochondrial ribosomal protein L49 ISO ClinVar Annotator: match by term: Perrault syndrome 1 ClinVar NCBI chr 2:7,066,514...7,071,812
Ensembl chr 2:7,066,523...7,071,812
JBrowse link
G PRORP protein only RNase P catalytic subunit ISO ClinVar Annotator: match by term: Perrault syndrome 1 ClinVar PMID:34715011 PMID:37558808 NCBI chr 7:64,620,514...64,763,272
Ensembl chr 7:64,620,517...64,762,428
JBrowse link
Perrault Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HARS2 histidyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: HARS2-related condition | ClinVar Annotator: match by term: Perrault syndrome 2 OMIM
ClinVar
PMID:517579 PMID:21464306 PMID:24033266 PMID:25741868 PMID:28492532 More... NCBI chr 2:142,401,279...142,410,253
Ensembl chr 2:142,401,328...142,409,619
JBrowse link
Perrault Syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLPP caseinolytic mitochondrial matrix peptidase proteolytic subunit ISO ClinVar Annotator: match by term: CLPP-related condition | ClinVar Annotator: match by term: Perrault syndrome 3 OMIM
ClinVar
PMID:17690910 PMID:21660509 PMID:22037954 PMID:23541340 PMID:24033266 More... NCBI chr 2:72,707,363...72,713,481
Ensembl chr 2:72,707,158...72,713,475
JBrowse link
Perrault Syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LARS2 leucyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Perrault syndrome 4 OMIM
ClinVar
PMID:23541342 PMID:24033266 PMID:25741868 PMID:26467025 PMID:26537577 More... NCBI chr13:28,524,778...28,692,327
Ensembl chr13:28,524,796...28,692,327
JBrowse link
Perrault Syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TWNK twinkle mtDNA helicase ISO ClinVar Annotator: match by term: Perrault syndrome 5 OMIM
ClinVar
PMID:18593709 PMID:25355836 PMID:25741868 PMID:26467025 PMID:27551684 More... NCBI chr14:112,068,463...112,076,169
Ensembl chr14:112,069,925...112,075,792
JBrowse link
Perrault syndrome 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ERAL1 Era like 12S mitochondrial rRNA chaperone 1 ISO ClinVar Annotator: match by term: Perrault syndrome 6 OMIM
ClinVar
PMID:25741868 PMID:28449065 NCBI chr12:45,082,931...45,091,278
Ensembl chr12:45,083,003...45,088,673
JBrowse link
Sexual Infantilism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CYP19A3 cytochrome P450 19A3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8265607 NCBI chr 1:120,476,890...120,556,103
Ensembl chr 1:120,367,667...120,695,899
JBrowse link
Turner syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CAT catalase ISO CTD Direct Evidence: marker/mechanism CTD PMID:25101153 NCBI chr 2:26,493,664...26,533,881
Ensembl chr 2:26,487,653...26,581,452
JBrowse link
G IGF1 insulin like growth factor 1 ISO protein:decreased activity:serum: RGD PMID:17067837 RGD:12743588 NCBI chr 5:81,762,027...81,909,253
Ensembl chr 5:81,775,970...81,848,033
JBrowse link
G IGFBP3 insulin like growth factor binding protein 3 treatment ISO DNA:SNP: :¿¿¿202 A>C(rs2854744)(human) RGD PMID:17067837 PMID:22278433 RGD:12743588 RGD:12743598 NCBI chr18:50,002,921...50,009,425
Ensembl chr18:50,003,022...50,010,690
JBrowse link
G NOS2 nitric oxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25101153 NCBI chr12:44,174,944...44,219,875
Ensembl chr12:44,174,948...44,218,146
JBrowse link
G PTCH1 patched 1 ISO ClinVar Annotator: match by term: Turner syndrome ClinVar PMID:25741868 NCBI chr10:26,627,165...26,703,225
Ensembl chr10:26,627,425...26,703,223
JBrowse link
G SOD1 superoxide dismutase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25101153 NCBI chr13:195,326,573...195,335,273
Ensembl chr13:195,326,649...195,337,729
JBrowse link
G SOD2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25101153 NCBI chr 1:7,679,352...7,689,564
Ensembl chr 1:7,679,352...7,689,560
JBrowse link
G VDR vitamin D receptor susceptibility ISO DNA:SNP: :rs7975232(human) RGD PMID:21823528 RGD:13432073 NCBI chr 5:78,205,807...78,266,505
Ensembl chr 5:78,205,810...78,266,475
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15430
    disease of anatomical entity 15099
      endocrine system disease 6220
        gonadal disease 1349
          disorder of sexual development 230
            gonadal dysgenesis 58
              46 XX gonadal dysgenesis + 24
              46,XX sex reversal + 7
              46,XY sex reversal + 18
              Immunodeficiency, Gonadal Dysgenesis, and Pulmonary Fibrosis 0
              Kennerknecht Sorgo Oberhoffer Syndrome 0
              Perrault syndrome + 12
              Sexual Infantilism 1
              Turner syndrome + 8
              dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome 1
              mixed gonadal dysgenesis + 0
              testicular dysgenesis syndrome 0
Path 2
Term Annotations click to browse term
  disease 15430
    Developmental Disease 13490
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12612
        Congenital Abnormalities 7616
          Urogenital Abnormalities 441
            disorder of sexual development 230
              gonadal dysgenesis 58
                46 XX gonadal dysgenesis + 24
                46,XX sex reversal + 7
                46,XY sex reversal + 18
                Immunodeficiency, Gonadal Dysgenesis, and Pulmonary Fibrosis 0
                Kennerknecht Sorgo Oberhoffer Syndrome 0
                Perrault syndrome + 12
                Sexual Infantilism 1
                Turner syndrome + 8
                dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome 1
                mixed gonadal dysgenesis + 0
                testicular dysgenesis syndrome 0
paths to the root