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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 Disorders of Sex Development
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Accession:DOID:9003766 term browser browse the term
Definition:Congenital conditions in individuals with a male karyotype, in which the development of the gonadal or anatomical sex is atypical.
Synonyms:exact_synonym: 46,XY DSD;   Disorder of Sex Development, 46,XY;   Male Pseudohermaphroditism;   Male Pseudohermaphroditisms
 primary_id: MESH:D058490
For additional species annotation, visit the Alliance of Genome Resources.



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46, XY Disorders of Sex Development term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amhr2 anti-Mullerian hormone receptor type 2 ISO ClinVar Annotator: match by term: Male pseudohermaphroditism ClinVar NCBI chr 7:133,579,152...133,588,874
Ensembl chr 7:133,579,393...133,588,258
JBrowse link
G Cyp11a1 cytochrome P450, family 11, subfamily a, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11502818 NCBI chr 8:58,422,807...58,434,342
Ensembl chr 8:58,404,669...58,434,338
JBrowse link
G Lhcgr luteinizing hormone/choriogonadotropin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:7719343 PMID:19887492 NCBI chr 6:5,661,871...5,728,109
Ensembl chr 6:5,661,871...5,724,521
JBrowse link
G Nr5a1 nuclear receptor subfamily 5, group A, member 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: 46,XY disorder of sex development
CTD
ClinVar
PMID:28492532 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 ClinVar Annotator: match by term: 46,XY disorder of sex development ClinVar PMID:8353496 PMID:25741868 PMID:29378242 NCBI chr  Y:440,551...443,183 JBrowse link
17-beta hydroxysteroid dehydrogenase 3 deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hsd17b3 hydroxysteroid (17-beta) dehydrogenase 3 ISO ClinVar Annotator: match by term: Testosterone 17-beta-dehydrogenase deficiency
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:598011 PMID:2918056 PMID:8075637 PMID:8550739 PMID:8626842 More... NCBI chr17:1,027,229...1,058,554
Ensembl chr17:1,027,229...1,058,554
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 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 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
46,Xy True Hermaphroditism, 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: 46,XY true hermaphroditism, SRY-related ClinVar PMID:1483689 PMID:1570829 PMID:1734522 PMID:1956279 PMID:2247149 More... NCBI chr  Y:440,551...443,183 JBrowse link
androgen insensitivity syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ar androgen receptor ISO
IEP
ClinVar Annotator: match by term: Androgen resistance syndrome
DNA:missense mutation:exon:p.M749V (human)
DNA:missense mutations, repeats:exon:p.V866L, p.R607Y (human)
DNA:missense mutation:exon:p.R615S (human)
DNA:point mutation, repeats:exon
DNA:deletion
protein:altered localization:spinal cord, motor neuron, cytoplasm
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
RGD
PMID:1303262 PMID:1307250 PMID:1430233 PMID:1480178 PMID:1569163 More... RGD:11576240, RGD:11576235, RGD:11576233, RGD:11576232, RGD:11571628, RGD:11571627, RGD:11571622 NCBI chr  X:63,104,771...63,273,934
Ensembl chr  X:63,104,771...63,273,925
JBrowse link
G Fkbp4 FKBP prolyl isomerase 4 ISS OMIM:300068 MouseDO NCBI chr 4:161,703,379...161,711,833
Ensembl chr 4:161,703,379...161,711,833
JBrowse link
G Kat7 lysine acetyltransferase 7 ISO protein:decreased expression:testes (human) RGD PMID:23707616 RGD:9681005 NCBI chr10:80,221,519...80,255,590
Ensembl chr10:80,221,524...80,255,567
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 syndrome OMIM
ClinVar
PMID:25741868 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
chondrodysplasia-pseudohermaphroditism syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hhat hedgehog acyltransferase ISO ClinVar Annotator: match by term: Chondrodysplasia-pseudohermaphroditism syndrome OMIM
ClinVar
PMID:24784881 PMID:30912300 NCBI chr13:104,024,507...104,283,581
Ensembl chr13:104,010,916...104,282,893
JBrowse link
Chromosome 11p Deletion Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Elp4 elongator acetyltransferase complex subunit 4 ISO ClinVar Annotator: match by term: 11p deletion syndrome ClinVar PMID:28492532 NCBI chr 3:92,162,271...92,385,251
Ensembl chr 3:92,162,280...92,385,243
JBrowse link
G Pax6 paired box 6 ISO ClinVar Annotator: match by term: 11p deletion syndrome ClinVar PMID:9727514 PMID:12868034 PMID:15086958 PMID:17417613 PMID:18776953 More... NCBI chr 3:92,128,772...92,157,022
Ensembl chr 3:92,135,637...92,157,014
JBrowse link
G Wt1 WT1 transcription factor ISO ClinVar Annotator: match by term: 11p deletion syndrome ClinVar PMID:23349334 PMID:25741868 PMID:28492532 NCBI chr 3:91,566,540...91,613,653
Ensembl chr 3:91,567,001...91,613,643
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
D-bifunctional protein deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Brat1 BRCA1-associated ATM activator 1 ISO ClinVar Annotator: match by term: DBP deficiency ClinVar PMID:16385454 PMID:22279524 PMID:23035047 PMID:28492532 NCBI chr12:13,928,889...13,951,760
Ensembl chr12:13,928,898...13,941,248
JBrowse link
G Hsd17b4 hydroxysteroid (17-beta) dehydrogenase 4 severity ISO ClinVar Annotator: match by term: Bifunctional peroxisomal enzyme deficiency | ClinVar Annotator: match by term: DBP deficiency
DNA:mutations:multiple (human)
ClinVar
OMIM
RGD
PMID:2868085 PMID:2882519 PMID:2921319 PMID:8279468 PMID:9345094 More... RGD:1599968, RGD:10411884 NCBI chr18:43,328,903...43,417,950
Ensembl chr18:43,328,824...43,417,952
JBrowse link
Denys-Drash syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ar androgen receptor ISO protein:decreased expression:sertoli cell RGD PMID:16245160 RGD:1643343 NCBI chr  X:63,104,771...63,273,934
Ensembl chr  X:63,104,771...63,273,925
JBrowse link
G Dcdc1-ps1 doublecortin domain containing 1, pseudogene 1 ISO ClinVar Annotator: match by term: Drash syndrome ClinVar PMID:15150775 PMID:17630404 PMID:24138039 PMID:26661695 PMID:27124303 More... NCBI chr 3:92,718,047...92,896,696
Ensembl chr 3:92,718,047...92,896,542
JBrowse link
G Dnajc24 DnaJ heat shock protein family (Hsp40) member C24 ISO ClinVar Annotator: match by term: Drash syndrome ClinVar PMID:15150775 PMID:17630404 PMID:24138039 PMID:26661695 PMID:27124303 More... NCBI chr 3:92,450,631...92,486,004
Ensembl chr 3:92,450,639...92,485,901
JBrowse link
G Elp4 elongator acetyltransferase complex subunit 4 ISO ClinVar Annotator: match by term: Drash syndrome ClinVar PMID:15150775 PMID:17630404 PMID:24138039 PMID:26661695 PMID:27124303 More... NCBI chr 3:92,162,271...92,385,251
Ensembl chr 3:92,162,280...92,385,243
JBrowse link
G Immp1l inner mitochondrial membrane peptidase subunit 1 ISO ClinVar Annotator: match by term: Drash syndrome ClinVar PMID:15150775 PMID:17630404 PMID:24138039 PMID:26661695 PMID:27124303 More... NCBI chr 3:92,385,329...92,450,557
Ensembl chr 3:92,385,379...92,452,313
JBrowse link
G Pax6 paired box 6 ISO ClinVar Annotator: match by term: Drash syndrome ClinVar PMID:15150775 PMID:17630404 PMID:24138039 PMID:26661695 PMID:27124303 More... NCBI chr 3:92,128,772...92,157,022
Ensembl chr 3:92,135,637...92,157,014
JBrowse link
G Rcn1 reticulocalbin 1 ISO ClinVar Annotator: match by term: Drash syndrome ClinVar PMID:15150775 PMID:17630404 PMID:24138039 PMID:26661695 PMID:27124303 More... NCBI chr 3:91,841,052...91,855,295
Ensembl chr 3:91,841,052...91,855,295
JBrowse link
G Wt1 WT1 transcription factor ISO ClinVar Annotator: match by term: Drash syndrome ClinVar
OMIM
RGD
PMID:1302008 PMID:1327525 PMID:1338906 PMID:1655284 PMID:1658787 More... RGD:1580624 NCBI chr 3:91,566,540...91,613,653
Ensembl chr 3:91,567,001...91,613,643
JBrowse link
Frasier 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: Frasier syndrome OMIM
ClinVar
PMID:1302008 PMID:1658787 PMID:7795587 PMID:8388765 PMID:9108089 More... NCBI chr 3:91,566,540...91,613,653
Ensembl chr 3:91,567,001...91,613,643
JBrowse link
hypogonadotropic hypogonadism 1 with or without anosmia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Anos1 anosmin 1 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 1 with or without anosmia OMIM
ClinVar
PMID:1518845 PMID:1594017 PMID:1639422 PMID:1904396 PMID:8504298 More... NCBI chr10:68,561,954...68,562,801
Ensembl chr10:68,561,954...68,562,801
JBrowse link
hypogonadotropic hypogonadism 2 with or without anosmia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adam9 ADAM metallopeptidase domain 9 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia ClinVar PMID:28492532 NCBI chr16:67,022,538...67,101,647
Ensembl chr16:67,022,655...67,100,917
JBrowse link
G Adgra2 adhesion G protein-coupled receptor A2 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia ClinVar PMID:28492532 NCBI chr16:64,932,964...64,971,433
Ensembl chr16:64,933,315...64,971,483
JBrowse link
G Adrb3 adrenoceptor beta 3 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia ClinVar PMID:28492532 NCBI chr16:64,839,820...64,844,552
Ensembl chr16:64,841,788...64,844,552
JBrowse link
G Ash2l ASH2 like histone lysine methyltransferase complex subunit ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia ClinVar PMID:28492532 NCBI chr16:66,242,205...66,264,064
Ensembl chr16:66,242,212...66,264,061
JBrowse link
G Bag4 BAG cochaperone 4 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia ClinVar PMID:28492532 NCBI chr16:66,288,678...66,305,893
Ensembl chr16:66,288,678...66,308,663
JBrowse link
G Brf2 BRF2, RNA polymerase III transcription initiation factor subunit ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia ClinVar PMID:28492532 NCBI chr16:64,928,334...64,933,057
Ensembl chr16:64,928,300...64,933,059
JBrowse link
G Ddhd2 DDHD domain containing 2 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia ClinVar PMID:28492532 NCBI chr16:66,319,469...66,349,025
Ensembl chr16:66,319,466...66,349,023
JBrowse link
G Eif4ebp1 eukaryotic translation initiation factor 4E binding protein 1 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia ClinVar PMID:28492532 NCBI chr16:64,792,595...64,805,984
Ensembl chr16:64,790,226...64,805,984
JBrowse link
G Erlin2 ER lipid raft associated 2 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia ClinVar PMID:28492532 NCBI chr16:65,017,654...65,034,184
Ensembl chr16:65,018,532...65,033,671
JBrowse link
G Fgfr1 Fibroblast growth factor receptor 1 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with anosmia | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia OMIM
ClinVar
PMID:6881209 PMID:7795583 PMID:7874169 PMID:9536098 PMID:10629055 More... NCBI chr16:66,492,445...66,546,731
Ensembl chr16:66,494,042...66,547,350
JBrowse link
G Got1l1 glutamic-oxaloacetic transaminase 1-like 1 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia ClinVar PMID:28492532 NCBI chr16:64,860,308...64,873,656
Ensembl chr16:64,860,704...64,866,162
JBrowse link
G Htra4 HtrA serine peptidase 4 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia ClinVar PMID:28492532 NCBI chr16:67,001,605...67,015,074
Ensembl chr16:67,001,605...67,015,074
JBrowse link
G Letm2 leucine zipper and EF-hand containing transmembrane protein 2 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia ClinVar PMID:28492532 NCBI chr16:66,464,958...66,489,640
Ensembl chr16:66,469,111...66,489,704
JBrowse link
G Lsm1 LSM1 homolog, mRNA degradation associated ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia ClinVar PMID:28492532 NCBI chr16:66,277,345...66,288,852
Ensembl chr16:66,277,345...66,288,852
JBrowse link
G Nsd3 nuclear receptor binding SET domain protein 3 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia ClinVar PMID:28492532 NCBI chr16:66,354,030...66,466,202
Ensembl chr16:66,358,973...66,465,423
JBrowse link
G Plekha2 pleckstrin homology domain containing A2 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia ClinVar PMID:28492532 NCBI chr16:66,938,684...67,000,661
Ensembl chr16:66,939,109...66,999,395
JBrowse link
G Plpbp pyridoxal phosphate binding protein ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia ClinVar PMID:28492532 NCBI chr16:65,003,292...65,014,886
Ensembl chr16:65,002,223...65,014,886
JBrowse link
G Plpp5 phospholipid phosphatase 5 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia ClinVar PMID:28492532 NCBI chr16:66,349,483...66,353,887
Ensembl chr16:66,349,502...66,464,797
JBrowse link
G Rab11fip1 RAB11 family interacting protein 1 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia ClinVar PMID:28492532 NCBI chr16:64,886,902...64,917,491
Ensembl chr16:64,884,676...64,917,491
JBrowse link
G Star steroidogenic acute regulatory protein ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia ClinVar PMID:28492532 NCBI chr16:66,267,094...66,274,368
Ensembl chr16:66,264,807...66,271,672
JBrowse link
G Tacc1 transforming, acidic coiled-coil containing protein 1 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia ClinVar PMID:28492532 NCBI chr16:66,812,232...66,895,736
Ensembl chr16:66,812,295...66,895,733
JBrowse link
G Tm2d2 TM2 domain containing 2 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia ClinVar PMID:28492532 NCBI chr16:67,016,683...67,022,206
Ensembl chr16:67,012,675...67,022,226
JBrowse link
hypogonadotropic hypogonadism 3 with or without anosmia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prokr2 prokineticin receptor 2 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 3 with or without anosmia | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 3 without anosmia OMIM
ClinVar
PMID:1855992 PMID:4276467 PMID:8954047 PMID:11259612 PMID:16537498 More... NCBI chr 3:119,624,738...119,639,442
Ensembl chr 3:119,627,601...119,635,718
JBrowse link
hypogonadotropic hypogonadism 4 with or without anosmia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prok2 prokineticin 2 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 4 with or without anosmia OMIM
ClinVar
PMID:17054399 PMID:17959774 PMID:18285834 PMID:18559922 PMID:18682503 More... NCBI chr 4:132,346,681...132,361,754
Ensembl chr 4:132,347,103...132,361,385
JBrowse link
Hypogonadotropic Hypogonadism and Anosmia, Autosomal Dominant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr1 Fibroblast growth factor receptor 1 ISO DNA:frameshift mutation, missense mutations: :multiple
DNA:missense mutations, nonsense mutations:exon:multiple
DNA:missense mutation, nonsense mutation:exon:p.S107X (320C>A), p.G687R (2059G>A) (human)
RGD PMID:16882753 PMID:16764984 PMID:15845591 RGD:11567239, RGD:11567241, RGD:11567240 NCBI chr16:66,492,445...66,546,731
Ensembl chr16:66,494,042...66,547,350
JBrowse link
Kallmann syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Anos1 anosmin 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:68,561,954...68,562,801
Ensembl chr10:68,561,954...68,562,801
JBrowse link
G Chd7 chromodomain helicase DNA binding protein 7 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hypogonadism with anosmia
CTD
ClinVar
PMID:18414213 PMID:18445044 PMID:21158681 PMID:22461308 PMID:24033266 More... NCBI chr 5:21,812,007...21,995,358
Ensembl chr 5:21,812,070...21,995,358
JBrowse link
G Fgf8 fibroblast growth factor 8 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:244,584,477...244,590,359
Ensembl chr 1:244,584,652...244,590,359
JBrowse link
G Fgfr1 Fibroblast growth factor receptor 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Anosmic hypogonadism | ClinVar Annotator: match by term: Hypogonadism with anosmia
CTD
ClinVar
PMID:25741868 NCBI chr16:66,492,445...66,546,731
Ensembl chr16:66,494,042...66,547,350
JBrowse link
G Pnpla6 patatin-like phospholipase domain containing 6 ISO ClinVar Annotator: match by term: Hypogonadism with anosmia ClinVar PMID:25741868 NCBI chr12:1,574,387...1,603,735
Ensembl chr12:1,560,363...1,603,734
JBrowse link
G Polr2f RNA polymerase II, I and III subunit F ISO ClinVar Annotator: match by term: Hypogonadism with anosmia ClinVar NCBI chr 7:110,712,528...110,724,234
Ensembl chr 7:110,712,572...110,724,234
JBrowse link
G Prok2 prokineticin 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:132,346,681...132,361,754
Ensembl chr 4:132,347,103...132,361,385
JBrowse link
G Prokr2 prokineticin receptor 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hypogonadism with anosmia
CTD
ClinVar
PMID:17054399 PMID:18826963 PMID:22745195 PMID:24830383 PMID:25741868 More... NCBI chr 3:119,624,738...119,639,442
Ensembl chr 3:119,627,601...119,635,718
JBrowse link
G Sox10 SRY-box transcription factor 10 ISO
ISS
DNA:mutations:cds:
ClinVar Annotator: match by term: Hypogonadism with anosmia
ClinVar
MouseDO
RGD
PMID:23643381 RGD:12832748 NCBI chr 7:110,725,274...110,735,544
Ensembl chr 7:110,725,274...110,735,544
JBrowse link
G Sra1 steroid receptor RNA activator 1 ISO ClinVar Annotator: match by term: Hypogonadism with anosmia ClinVar NCBI chr18:28,269,192...28,273,023
Ensembl chr18:28,269,311...28,272,538
JBrowse link
G Wdr11 WD repeat domain 11 ISS MouseDO NCBI chr 1:184,165,260...184,210,834
Ensembl chr 1:184,165,571...184,210,846
JBrowse link
Kallmann Syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chd7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: Kallmann syndrome 5 ClinVar PMID:9536098 PMID:16763960 PMID:17576681 PMID:18073582 PMID:18414213 More... NCBI chr 5:21,812,007...21,995,358
Ensembl chr 5:21,812,070...21,995,358
JBrowse link
Leydig cell hypoplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lhcgr luteinizing hormone/choriogonadotropin receptor ISO ClinVar Annotator: match by term: HYPERGONADOTROPIC HYPOGONADISM, MALE, DUE TO LHCGR DEFECT | ClinVar Annotator: match by term: Leydig cell agenesis | ClinVar Annotator: match by term: Luteinizing hormone resistance, female
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:2244890 PMID:7527413 PMID:7556872 PMID:7562970 PMID:7581384 More... NCBI chr 6:5,661,871...5,728,109
Ensembl chr 6:5,661,871...5,724,521
JBrowse link
Leydig cell hypoplasia type I term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lhcgr luteinizing hormone/choriogonadotropin receptor ISO ClinVar Annotator: match by term: Leydig cell hypoplasia, type 1 | ClinVar Annotator: match by term: Leydig hypoplasia, type I ClinVar PMID:2244890 PMID:7527413 PMID:7556872 PMID:7562970 PMID:7692306 More... NCBI chr 6:5,661,871...5,728,109
Ensembl chr 6:5,661,871...5,724,521
JBrowse link
Leydig cell hypoplasia type II term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lhcgr luteinizing hormone/choriogonadotropin receptor ISO ClinVar Annotator: match by term: Leydig cell hypoplasia, type II ClinVar PMID:9215288 PMID:9626653 PMID:10852464 NCBI chr 6:5,661,871...5,728,109
Ensembl chr 6:5,661,871...5,724,521
JBrowse link
Lipoid Congenital Adrenal Hyperplasia 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 CTD Direct Evidence: marker/mechanism CTD PMID:11502818 NCBI chr 8:58,422,807...58,434,342
Ensembl chr 8:58,404,669...58,434,338
JBrowse link
G Star steroidogenic acute regulatory protein ISO ClinVar Annotator: match by term: Congenital lipoid adrenal hyperplasia | ClinVar Annotator: match by term: Lipoid hyperplasia congenital of adrenal cortex with male pseudohermaphroditism
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:7892608 PMID:8634702 PMID:8943003 PMID:8948562 PMID:9077535 More... NCBI chr16:66,267,094...66,274,368
Ensembl chr16:66,264,807...66,271,672
JBrowse link
Lubs Syndrome 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: Type I familial incomplete male pseudohermaphroditism ClinVar PMID:16804045 NCBI chr  X:63,104,771...63,273,934
Ensembl chr  X:63,104,771...63,273,925
JBrowse link
Male Pseudohermaphroditism due to Defective LH Molecule term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lhb luteinizing hormone subunit beta ISO OMIM NCBI chr 1:95,898,269...95,901,973
Ensembl chr 1:95,900,984...95,901,972
Ensembl chr 1:95,900,984...95,901,972
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 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:25741868 PMID:30893644 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
partial androgen insensitivity syndrome 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: Androgen insensitivity, partial, with breast cancer | ClinVar Annotator: match by term: Partial androgen insensitivity syndrome OMIM
ClinVar
PMID:1303262 PMID:1430233 PMID:1598912 PMID:2010552 PMID:2918059 More... NCBI chr  X:63,104,771...63,273,934
Ensembl chr  X:63,104,771...63,273,925
JBrowse link
persistent Mullerian duct syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amh anti-Mullerian hormone ISO ClinVar Annotator: match by term: Persistent Mullerian duct syndrome | ClinVar Annotator: match by term: Persistent mullerian duct syndrome, type I OMIM
ClinVar
PMID:1483695 PMID:1809231 PMID:2023927 PMID:2562843 PMID:11760020 More... NCBI chr 7:8,906,776...8,909,184
Ensembl chr 7:8,906,836...8,909,282
JBrowse link
G Amhr2 anti-Mullerian hormone receptor type 2 ISO ClinVar Annotator: match by term: Persistent Mullerian duct syndrome | ClinVar Annotator: match by term: Persistent mullerian duct syndrome, type II OMIM
ClinVar
PMID:7493017 PMID:8872466 PMID:11549681 PMID:19457927 PMID:24033266 More... NCBI chr 7:133,579,152...133,588,874
Ensembl chr 7:133,579,393...133,588,258
JBrowse link
Pseudovaginal Perineoscrotal Hypospadias term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Srd5a2 steroid 5 alpha-reductase 2 ISO ClinVar Annotator: match by term: 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | ClinVar Annotator: match by term: Familial incomplete male pseudohermaphroditism, type 2
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:431680 PMID:835597 PMID:1406794 PMID:1522235 PMID:1944596 More... NCBI chr 6:21,426,225...21,465,727
Ensembl chr 6:21,426,215...21,462,112
JBrowse link
Testicular Anomalies with or without Congenital Heart Disease 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: Testicular anomalies with or without congenital heart disease OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:18672102 PMID:19302747 PMID:19678963 More... NCBI chr15:37,459,601...37,531,291
Ensembl chr15:37,459,601...37,505,636
JBrowse link
WAGR syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Elp4 elongator acetyltransferase complex subunit 4 ISO ClinVar Annotator: match by term: Wilms Tumor-Aniridia-Gonadoblastoma-Mental Retardation syndrome ClinVar PMID:28492532 NCBI chr 3:92,162,271...92,385,251
Ensembl chr 3:92,162,280...92,385,243
JBrowse link
G Pax6 paired box 6 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: 11p partial monosomy syndrome | ClinVar Annotator: match by term: Wilms Tumor-Aniridia-Gonadoblastoma-Mental Retardation syndrome
CTD
ClinVar
PMID:9727514 PMID:12868034 PMID:15086958 PMID:17417613 PMID:18776953 More... NCBI chr 3:92,128,772...92,157,022
Ensembl chr 3:92,135,637...92,157,014
JBrowse link
G Wt1 WT1 transcription factor ISO ClinVar Annotator: match by term: 11p partial monosomy syndrome | ClinVar Annotator: match by term: Wilms Tumor-Aniridia-Gonadoblastoma-Mental Retardation syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:23349334 PMID:25741868 PMID:28492532 PMID:15118671 RGD:1331525 NCBI chr 3:91,566,540...91,613,653
Ensembl chr 3:91,567,001...91,613,643
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18156
    disease of anatomical entity 17531
      endocrine system disease 6295
        gonadal disease 1082
          disorder of sexual development 211
            46, XY Disorders of Sex Development 67
              17-beta hydroxysteroid dehydrogenase 3 deficiency + 3
              46,XY sex reversal + 19
              46,Xy True Hermaphroditism, Sry-Related 1
              Denys-Drash syndrome 8
              Frasier syndrome 1
              Kallmann syndrome + 32
              Leydig cell hypoplasia + 1
              Lipoid Congenital Adrenal Hyperplasia 2
              Male Pseudohermaphroditism due to Defective LH Molecule 1
              Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type 0
              Pseudovaginal Perineoscrotal Hypospadias 1
              Testicular Anomalies with or without Congenital Heart Disease 1
              Urioste Martinez-Frias Syndrome 0
              WAGR syndrome + 3
              androgen insensitivity syndrome + 4
              chondrodysplasia-pseudohermaphroditism syndrome 1
              persistent Mullerian duct syndrome 2
Path 2
Term Annotations click to browse term
  disease 18156
    Developmental Disease 12940
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11670
        Congenital Abnormalities 6765
          Urogenital Abnormalities 381
            disorder of sexual development 211
              46, XY Disorders of Sex Development 67
                17-beta hydroxysteroid dehydrogenase 3 deficiency + 3
                46,XY sex reversal + 19
                46,Xy True Hermaphroditism, Sry-Related 1
                Denys-Drash syndrome 8
                Frasier syndrome 1
                Kallmann syndrome + 32
                Leydig cell hypoplasia + 1
                Lipoid Congenital Adrenal Hyperplasia 2
                Male Pseudohermaphroditism due to Defective LH Molecule 1
                Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type 0
                Pseudovaginal Perineoscrotal Hypospadias 1
                Testicular Anomalies with or without Congenital Heart Disease 1
                Urioste Martinez-Frias Syndrome 0
                WAGR syndrome + 3
                androgen insensitivity syndrome + 4
                chondrodysplasia-pseudohermaphroditism syndrome 1
                persistent Mullerian duct syndrome 2
paths to the root