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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
 narrow_synonym: DSD INCOMPLETE VIRILIZATION
 primary_id: MESH:D058490


show annotations for term's descendants           Sort by:
46, XY Disorders of Sex Development term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamts16 ADAM metallopeptidase with thrombospondin type 1 motif, 16 ISO ClinVar Annotator: match by term: 46,XY disorder of sex development ClinVar NCBI chr 1:32,430,436...32,562,481
Ensembl chr 1:32,430,436...32,560,494 		JBrowse link
G Amhr2 anti-Mullerian hormone receptor type 2 ISO ClinVar Annotator: match by term: Male pseudohermaphroditism ClinVar PMID:25741868 NCBI chr 7:133,579,152...133,588,874
Ensembl chr 7:133,579,393...133,588,258 		JBrowse link
G Chd7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: 46,XY disorder of sex development ClinVar NCBI chr 5:21,812,007...21,995,358
Ensembl chr 5:21,812,070...21,995,358 		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 Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: 46,XY disorder of sex development ClinVar NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341 		JBrowse link
G Insr insulin receptor ISO ClinVar Annotator: match by term: 46,XY disorder of sex development ClinVar NCBI chr12:1,193,193...1,330,976
Ensembl chr12:1,197,100...1,330,883 		JBrowse link
G Lhcgr luteinizing hormone/choriogonadotropin receptor ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: 46,XY disorder of sex development		 CTD
ClinVar		 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 Lrp2 LDL receptor related protein 2 ISO ClinVar Annotator: match by term: DSD incomplete virilization ClinVar PMID:20359920 PMID:25741868 PMID:28492532 PMID:34979047 NCBI chr 3:54,189,305...54,346,769
Ensembl chr 3:54,189,308...54,346,708 		JBrowse link
G Nr2f2 nuclear receptor subfamily 2, group F, member 2 ISO ClinVar Annotator: match by term: 46,XY disorder of sex development ClinVar NCBI chr 1:124,008,282...124,022,521
Ensembl chr 1:124,009,181...124,022,031 		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:17694559 PMID:20887963 PMID:25741868 PMID:27899157 PMID:28492532 NCBI chr 3:22,464,786...22,486,328
Ensembl chr 3:22,465,502...22,486,328 		JBrowse link
G Pkd1 polycystin 1, transient receptor potential channel interacting ISO ClinVar Annotator: match by term: 46,XY disorder of sex development ClinVar NCBI chr10:13,573,779...13,621,138
Ensembl chr10:13,573,021...13,621,128 		JBrowse link
G Por cytochrome p450 oxidoreductase ISO ClinVar Annotator: match by term: 46,XY disorder of sex development ClinVar NCBI chr12:20,951,058...20,999,198
Ensembl chr12:20,951,058...20,999,245 		JBrowse link
G Sox8 SRY-box transcription factor 8 ISO ClinVar Annotator: match by term: 46,XY disorder of sex development ClinVar NCBI chr10:14,584,829...14,589,818
Ensembl chr10:14,584,829...14,589,818 		JBrowse link
G Srcap Snf2-related CREBBP activator protein ISO ClinVar Annotator: match by term: 46,XY disorder of sex development ClinVar PMID:28492532 NCBI chr 1:182,123,562...182,172,643
Ensembl chr 1:182,118,416...182,176,610 		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:441,525...442,037 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 Col5a1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by term: 17 alpha ketosteroid reductase deficiency of testis ClinVar PMID:25326637 PMID:25741868 PMID:28492532 NCBI chr 3:11,208,429...11,356,715
Ensembl chr 3:11,208,512...11,354,588 		JBrowse link
G Hsd17b3 hydroxysteroid (17-beta) dehydrogenase 3 ISO
ISS		 ClinVar Annotator: match by term: Testosterone 17-beta-dehydrogenase deficiency
OMIM:264300
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:598011 PMID:2918056 PMID:3066852 PMID:8075637 PMID:8550739 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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: 46,XY gonadal dysgenesis, partial, with minifascicular neuropathy		 OMIM
CTD
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:25741868 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:441,525...442,037 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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1339396 PMID:1415266 PMID:1438307 PMID:1483689 PMID:1570829 More... NCBI chr  Y:441,525...442,037 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 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 | ClinVar Annotator: match by term: 46XY sex reversal 2, dosage-sensitive
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:7990958 PMID:9195207 PMID:9486644 PMID:9529340 PMID:10599709 More... 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 | 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 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 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 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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: 46,XY sex reversal 5		 OMIM
CTD
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 CTD Direct Evidence: marker/mechanism
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
CTD
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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: 46,XY sex reversal 7 | ClinVar Annotator: match by term: DHH-Related 46,XY complete gonadal dysgenesis		 OMIM
CTD
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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: 46,XY sex reversal 8		 OMIM
CTD
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, ZFPM2-RELATED | ClinVar Annotator: match by term: 46,XY sex reversal 9
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:14517948 PMID:17568391 PMID:17576681 PMID:20807224 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:441,525...442,037 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
ISS		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Androgen resistance syndrome | ClinVar Annotator: match by term: Dihydrotestosterone receptor deficiency
protein:altered localization:spinal cord, motor neuron, cytoplasm
DNA:deletion
DNA:point mutation, repeats:exon
DNA:missense mutation:exon:p.R615S (human)
DNA:missense mutations, repeats:exon:p.V866L, p.R607Y (human)
DNA:missense mutation:exon:p.M749V (human)
OMIM:300068		 CTD
OMIM
ClinVar
MouseDO
RGD		 PMID:1158706 PMID:1303262 PMID:1307250 PMID:1430233 PMID:1458719 More... RGD:11571622, RGD:11571627, RGD:11571628, RGD:11576232, RGD:11576233, RGD:11576235, RGD:11576240 NCBI chr  X:63,104,771...63,273,934
Ensembl chr  X:63,104,771...63,273,925 		JBrowse link
G Cdc45 cell division cycle 45 ISO ClinVar Annotator: match by term: Dihydrotestosterone receptor deficiency ClinVar PMID:25741868 PMID:28492532 NCBI chr11:82,185,427...82,210,630
Ensembl chr11:82,185,473...82,210,619 		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
Androgen Insensitivity Syndrome due to Coactivator Deficiency 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 syndrome due to coactivator deficiency ClinVar PMID:2594783 PMID:9544375 PMID:10852459 PMID:16804045 PMID:17970778 More... NCBI chr  X:63,104,771...63,273,934
Ensembl chr  X:63,104,771...63,273,925 		JBrowse link
G Cdc45 cell division cycle 45 ISO ClinVar Annotator: match by term: Androgen insensitivity syndrome due to coactivator deficiency ClinVar PMID:25741868 PMID:28492532 NCBI chr11:82,185,427...82,210,630
Ensembl chr11:82,185,473...82,210,619 		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: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: Congenital absence of testes 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
ISS		 OMIM:600092
ClinVar Annotator: match by term: Chondrodysplasia-pseudohermaphroditism syndrome | ClinVar Annotator: match by term: Pseudohermaphrodism and chondrodysplasia		 OMIM
MouseDO
ClinVar		 PMID:24784881 PMID:25741868 PMID:28492532 PMID:30912300 NCBI chr13:104,024,507...104,283,580
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:10234503 PMID:12634864 PMID:12868034 PMID:15086958 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:1302008 PMID:1327525 PMID:1338906 PMID:1655284 PMID:1658787 More... 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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:11502818 PMID:12161514 PMID:15507506 PMID:16705068 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
ISS		 ClinVar Annotator: match by term: Bifunctional peroxisomal enzyme deficiency | ClinVar Annotator: match by term: DBP deficiency
OMIM:261515
CTD Direct Evidence: marker/mechanism
DNA:mutations:multiple (human)		 ClinVar
MouseDO
CTD
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 3:92,486,054...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...92,449,559
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
ISS		 ClinVar Annotator: match by term: Drash syndrome | ClinVar Annotator: match by term: Pseudohermaphroditism, nephron disorder and Wilms' tumor
OMIM:194080
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:1302008 PMID:1327525 PMID:1338906 PMID:1350671 PMID:1655284 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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1302008 PMID:1327525 PMID:1338906 PMID:1655284 PMID:1658787 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: ANOS1-related condition | 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:8948562 PMID:12627230 PMID:19489874 PMID:22249004 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:8948562 PMID:12627230 PMID:19489874 PMID:22249004 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:8948562 PMID:12627230 PMID:19489874 PMID:22249004 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:8948562 PMID:12627230 PMID:19489874 PMID:22249004 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:8948562 PMID:12627230 PMID:19489874 PMID:22249004 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:8948562 PMID:12627230 PMID:19489874 PMID:22249004 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:8948562 PMID:12627230 PMID:19489874 PMID:22249004 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:8948562 PMID:12627230 PMID:19489874 PMID:22249004 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:8948562 PMID:12627230 PMID:19489874 PMID:22249004 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 | ClinVar Annotator: match by term: Kallmann syndrome 2 OMIM
ClinVar		 PMID:1456217 PMID:6881209 PMID:7795583 PMID:7874169 PMID:8948562 More... NCBI chr16:66,491,930...66,547,161
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:8948562 PMID:12627230 PMID:19489874 PMID:22249004 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:8948562 PMID:12627230 PMID:19489874 PMID:22249004 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:8948562 PMID:12627230 PMID:19489874 PMID:22249004 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:8948562 PMID:12627230 PMID:19489874 PMID:22249004 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:8948562 PMID:12627230 PMID:19489874 PMID:22249004 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:8948562 PMID:12627230 PMID:19489874 PMID:22249004 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:8948562 PMID:12627230 PMID:19489874 PMID:22249004 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:8948562 PMID:12627230 PMID:19489874 PMID:22249004 PMID:28492532 NCBI chr16:66,349,483...66,353,887
Ensembl chr16:66,349,502...66,464,797 		JBrowse link
G Prokr2 prokineticin receptor 2 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia ClinVar PMID:4276467 PMID:8954047 PMID:11259612 PMID:17054399 PMID:18559922 More... NCBI chr 3:119,624,738...119,639,442
Ensembl chr 3:119,627,601...119,635,718 		JBrowse link
G Rab11fip1 RAB11 family interacting protein 1 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia ClinVar PMID:8948562 PMID:12627230 PMID:19489874 PMID:22249004 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:8948562 PMID:12627230 PMID:19489874 PMID:22249004 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:8948562 PMID:12627230 PMID:19489874 PMID:22249004 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:8948562 PMID:12627230 PMID:19489874 PMID:22249004 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 | ClinVar Annotator: match by term: Kallmann syndrome 3 OMIM
ClinVar		 PMID:1855992 PMID:2403109 PMID:4276467 PMID:8954047 PMID:11259612 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 | ClinVar Annotator: match by term: PROK2-related condition 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 chr16:66,491,930...66,547,161
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...244,590,578
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 chr16:66,491,930...66,547,161
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: Anosmic hypogonadism		 CTD
ClinVar		 PMID:17054399 PMID:18682503 PMID:18826963 PMID:20022991 PMID:22466334 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...110,734,651
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 Tcf12 transcription factor 12 ISO ClinVar Annotator: match by term: Hypogonadism with anosmia ClinVar PMID:25741868 PMID:32629054 NCBI chr 8:72,490,447...72,799,265
Ensembl chr 8:72,492,567...72,799,201 		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:17576681 PMID:18834967 PMID:22461308 PMID:25741868 More... NCBI chr 5:21,812,007...21,995,358
Ensembl chr 5:21,812,070...21,995,358 		JBrowse link
Kallmann Syndrome 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgf8 fibroblast growth factor 8 ISO ClinVar Annotator: match by term: Kallmann syndrome 6 ClinVar PMID:22399515 PMID:23533228 PMID:25131394 PMID:25741868 PMID:26467025 More... NCBI chr 1:244,584,477...244,590,578
Ensembl chr 1:244,584,652...244,590,359 		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 | ClinVar Annotator: match by term: STAR-related condition
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:2594783 PMID:16804045 PMID:25326637 PMID:25740850 PMID:25741868 More... NCBI chr  X:63,104,771...63,273,934
Ensembl chr  X:63,104,771...63,273,925 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 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: 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 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: BROSNAN-KENNERKNECHT-GURAN-KOC SYNDROME 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 | ClinVar Annotator: match by term: Reifenstein syndrome ClinVar
OMIM		 PMID:1303262 PMID:1307250 PMID:1430233 PMID:1598912 PMID:2010552 More... NCBI chr  X:63,104,771...63,273,934
Ensembl chr  X:63,104,771...63,273,925 		JBrowse link
G Gli2 GLI family zinc finger 2 ISO ClinVar Annotator: match by term: Partial androgen insensitivity syndrome ClinVar PMID:19223936 PMID:21204792 PMID:22967285 PMID:23408573 PMID:25741868 More... NCBI chr13:29,946,882...30,163,589
Ensembl chr13:29,946,809...30,163,574 		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: AMH-related condition | ClinVar Annotator: match by term: Persistent Mullerian duct syndrome | ClinVar Annotator: match by term: Persistent mullerian duct syndrome, type I
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1483695 PMID:1809231 PMID:2023927 PMID:2562843 PMID:8162013 More... NCBI chr 7:8,906,776...8,909,192
Ensembl chr 7:8,906,836...8,909,282 		JBrowse link
G Amhr2 anti-Mullerian hormone receptor type 2 ISO
ISS		 ClinVar Annotator: match by term: AMHR2-related condition | ClinVar Annotator: match by term: Persistent Mullerian duct syndrome | ClinVar Annotator: match by term: Persistent mullerian duct syndrome, type II
OMIM:261550
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:7493017 PMID:8872466 PMID:11549681 PMID:12893352 PMID:19457927 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 Cyp1b1 cytochrome P450, family 1, subfamily b, polypeptide 1 ISO ClinVar Annotator: match by term: Male pseudohermaphroditism due to 5-alpha-reductase deficiency ClinVar PMID:9097971 PMID:9497261 PMID:11403040 PMID:12036985 PMID:19234632 More... NCBI chr 6:15,342,312...15,350,886
Ensembl chr 6:15,342,344...15,350,917 		JBrowse link
G Hibch 3-hydroxyisobutyryl-CoA hydrolase ISO ClinVar Annotator: match by term: Familial incomplete male pseudohermaphroditism, type 2 ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:48,590,097...48,669,896
Ensembl chr 9:48,590,099...48,669,824 		JBrowse link
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:755047 PMID:835597 PMID:1147889 PMID:1406794 More... NCBI chr 6:21,426,225...21,465,727
Ensembl chr 6:21,426,215...21,462,112 		JBrowse link
G Tp53 tumor protein p53 ISO ClinVar Annotator: match by term: Familial incomplete male pseudohermaphroditism, type 2 ClinVar PMID:24728327 PMID:25741868 NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524 		JBrowse link
G Xdh xanthine dehydrogenase ISO ClinVar Annotator: match by term: 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency ClinVar PMID:18384427 PMID:28492532 NCBI chr 6:21,530,463...21,592,172
Ensembl chr 6:21,530,113...21,592,268 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Testicular anomalies with or without congenital heart disease		 OMIM
CTD
ClinVar		 PMID:9536098 PMID:15863664 PMID:17576681 PMID:17643447 PMID:18672102 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: 11p partial monosomy syndrome | 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:10234503 PMID:12634864 PMID:12868034 PMID:15086958 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: CHROMOSOME 11p13 DELETION SYNDROME | ClinVar Annotator: match by term: Wilms Tumor-Aniridia-Gonadoblastoma-Mental Retardation syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:1302008 PMID:1327525 PMID:1338906 PMID:1655284 PMID:1658787 More... 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 18969
    disease of anatomical entity 18249
      endocrine system disease 6821
        gonadal disease 1212
          disorder of sexual development 233
            46, XY Disorders of Sex Development 83
              17-beta hydroxysteroid dehydrogenase 3 deficiency + 4
              46,XY sex reversal + 19
              46,Xy True Hermaphroditism, Sry-Related 1
              Denys-Drash syndrome 8
              Frasier syndrome 1
              Kallmann syndrome + 33
              Leydig cell hypoplasia + 1
              Lipoid Congenital Adrenal Hyperplasia 2
              Male Pseudohermaphroditism due to Defective LH Molecule 0
              Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type 0
              Pseudovaginal Perineoscrotal Hypospadias 5
              Testicular Anomalies with or without Congenital Heart Disease 1
              Urioste Martinez-Frias Syndrome 0
              WAGR syndrome + 3
              androgen insensitivity syndrome + 6
              chondrodysplasia-pseudohermaphroditism syndrome 1
              persistent Mullerian duct syndrome 2
Path 2
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14401
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13418
        Congenital Abnormalities 7583
          Urogenital Abnormalities 445
            disorder of sexual development 233
              46, XY Disorders of Sex Development 83
                17-beta hydroxysteroid dehydrogenase 3 deficiency + 4
                46,XY sex reversal + 19
                46,Xy True Hermaphroditism, Sry-Related 1
                Denys-Drash syndrome 8
                Frasier syndrome 1
                Kallmann syndrome + 33
                Leydig cell hypoplasia + 1
                Lipoid Congenital Adrenal Hyperplasia 2
                Male Pseudohermaphroditism due to Defective LH Molecule 0
                Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type 0
                Pseudovaginal Perineoscrotal Hypospadias 5
                Testicular Anomalies with or without Congenital Heart Disease 1
                Urioste Martinez-Frias Syndrome 0
                WAGR syndrome + 3
                androgen insensitivity syndrome + 6
                chondrodysplasia-pseudohermaphroditism syndrome 1
                persistent Mullerian duct syndrome 2
paths to the root