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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 1:34,258,899...34,388,952
Ensembl chr 1:34,258,899...34,388,952 		JBrowse link
G Amhr2 anti-Mullerian hormone receptor type 2 ISO ClinVar Annotator: match by term: Male pseudohermaphroditism ClinVar PMID:25741868 NCBI chr 7:135,454,517...135,470,183
Ensembl chr 7:135,457,922...135,471,104 		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 5:26,609,245...26,792,736
Ensembl chr 5:26,609,407...26,792,734 		JBrowse link
G Cyp11a1 cytochrome P450, family 11, subfamily a, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11502818 NCBI chr 8:67,318,665...67,330,196
Ensembl chr 8:67,270,556...67,330,196 		JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: 46,XY disorder of sex development ClinVar NCBI chr14:81,211,800...81,227,215
Ensembl chr14:81,211,800...81,227,209 		JBrowse link
G Insr insulin receptor ISO ClinVar Annotator: match by term: 46,XY disorder of sex development ClinVar NCBI chr12:5,991,135...6,129,275
Ensembl chr12:5,981,835...6,128,803 		JBrowse link
G Lhcgr luteinizing hormone/choriogonadotropin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:7719343 PMID:19887492 NCBI chr 6:11,415,361...11,480,834
Ensembl chr 6:11,415,415...11,478,061 		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 3:74,597,148...74,754,535
Ensembl chr 3:74,597,148...74,754,535 		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 1:133,419,161...133,434,290
Ensembl chr 1:133,420,227...133,431,975 		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:25989977 PMID:26260161 More... NCBI chr 3:42,874,505...42,896,109
Ensembl chr 3:42,875,221...42,896,046 		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 chr10:14,077,733...14,125,682
Ensembl chr10:14,078,679...14,125,681 		JBrowse link
G Por cytochrome p450 oxidoreductase ISO ClinVar Annotator: match by term: 46,XY disorder of sex development ClinVar NCBI chr12:26,587,674...26,655,612
Ensembl chr12:26,587,674...26,635,809 		JBrowse link
G Sox8 SRY-box transcription factor 8 ISO ClinVar Annotator: match by term: 46,XY disorder of sex development ClinVar NCBI chr10:15,089,357...15,094,345
Ensembl chr10:15,089,357...15,094,345 		JBrowse link
G Srcap Snf2-related CREBBP activator protein ISO ClinVar Annotator: match by term: 46,XY disorder of sex development ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:191,554,043...191,607,096
Ensembl chr 1:191,554,043...191,604,265 		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:465,260...465,772
Ensembl chr  Y:465,260...465,772 		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 3:31,606,475...31,755,097
Ensembl chr 3:31,606,486...31,753,020 		JBrowse link
G Hsd17b3 hydroxysteroid (17-beta) dehydrogenase 3 ISO
ISS 		OMIM:264300
CTD Direct Evidence: marker/mechanism 		OMIM
MouseDO
CTD		 PMID:25526675 NCBI chr17:1,032,958...1,064,283
Ensembl chr17:1,032,958...1,064,283 		JBrowse link
46,XY complete gonadal dysgenesis 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:67,135,317...67,304,476
Ensembl chr  X:67,135,317...67,304,467 		JBrowse link
G Cbx2 chromobox 2 ISO ClinVar Annotator: match by term: Pure gonadal dysgenesis 46,XY ClinVar PMID:25741868 NCBI chr10:104,777,054...104,785,922
Ensembl chr10:104,777,056...104,785,926 		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 5:26,609,245...26,792,736
Ensembl chr 5:26,609,407...26,792,734 		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 7:131,929,857...131,935,352
Ensembl chr 7:131,929,857...131,935,352 		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 1:232,569,179...232,667,646
Ensembl chr 1:232,569,072...232,668,370 		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 3:42,874,505...42,896,109
Ensembl chr 3:42,875,221...42,896,046 		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:465,260...465,772
Ensembl chr  Y:465,260...465,772 		JBrowse link
46,XY 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 WITH MINIFASCICULAR NEUROPATHY
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:11891836 PMID:25927242 PMID:28589169 PMID:28708305 PMID:29471294 NCBI chr 7:131,929,857...131,935,352
Ensembl chr 7:131,929,857...131,935,352 		JBrowse link
46,Xy Gonadal Dysgenesis, Complete, Sry-Related term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cbx2 chromobox 2 ISO ClinVar Annotator: match by term: Gonadal dysgenesis, XY female type ClinVar PMID:25741868 NCBI chr10:104,777,054...104,785,922
Ensembl chr10:104,777,056...104,785,926 		JBrowse link
G Sry sex determining region Y ISO ClinVar Annotator: match by term: SRY-related 46,XY complete gonadal dysgenesis ClinVar PMID:1483689 PMID:1570829 PMID:1734522 PMID:1956279 PMID:2247149 More... NCBI chr  Y:465,260...465,772
Ensembl chr  Y:465,260...465,772 		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:465,260...465,772
Ensembl chr  Y:465,260...465,772 		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:6620326 PMID:22051515 PMID:25604083 NCBI chr10:98,305,744...98,311,250
Ensembl chr10:98,305,744...98,311,250 		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:54,707,658...54,711,786
Ensembl chr  X:54,707,639...54,712,083 		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 chr15:41,635,572...41,707,252
Ensembl chr15:41,635,572...41,681,609 		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 3:42,874,505...42,896,109
Ensembl chr 3:42,875,221...42,896,046 		JBrowse link
G Zfpm2 zinc finger protein, multitype 2 ISO ClinVar Annotator: match by term: DISORDER OF SEX DEVELOPMENT, 46,XY, NR5A1-RELATED ClinVar PMID:14517948 PMID:20807224 PMID:24702427 PMID:25333069 PMID:25741868 More... NCBI chr 7:73,563,732...74,001,041
Ensembl chr 7:73,563,732...74,001,041 		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 1:232,569,179...232,667,646
Ensembl chr 1:232,569,072...232,668,370 		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
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:19361780 PMID:25741868 PMID:28492532 NCBI chr10:104,777,054...104,785,922
Ensembl chr10:104,777,056...104,785,926 		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 chr 2:45,081,889...45,150,555
Ensembl chr 2:45,081,889...45,149,897 		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 		OMIM
CTD
ClinVar		 PMID:15356051 PMID:25741868 PMID:28492532 PMID:30298535 NCBI chr 7:131,929,857...131,935,352
Ensembl chr 7:131,929,857...131,935,352 		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 | ClinVar Annotator: match by term: AKR1C2-related condition | ClinVar Annotator: match by term: MALE PSEUDOHERMAPHRODITISM DUE TO DEFICIENCY OF TESTICULAR 17,20-DESMOLASE
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:4352099 PMID:21802064 PMID:25741868 PMID:28106320 NCBI chr17:70,669,684...70,717,935
Ensembl chr17:70,669,710...70,685,686 		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 OMIM
ClinVar		 PMID:14517948 PMID:20807224 PMID:24033266 PMID:24469719 PMID:24702427 More... NCBI chr 7:73,563,732...74,001,041
Ensembl chr 7:73,563,732...74,001,041 		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: DHTR 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:67,135,317...67,304,476
Ensembl chr  X:67,135,317...67,304,467 		JBrowse link
G Cdc45 cell division cycle 45 ISO ClinVar Annotator: match by term: DHTR DEFICIENCY ClinVar PMID:28492532 NCBI chr11:95,689,702...95,714,980
Ensembl chr11:95,689,919...95,714,981 		JBrowse link
G Fkbp4 FKBP prolyl isomerase 4 ISS OMIM:300068 MouseDO NCBI chr 4:163,389,464...163,397,918
Ensembl chr 4:163,389,464...163,397,918 		JBrowse link
G Kat7 lysine acetyltransferase 7 ISO protein:decreased expression:testes (human) RGD PMID:23707616 RGD:9681005 NCBI chr10:80,718,335...80,752,387
Ensembl chr10:80,718,335...80,752,387 		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:67,135,317...67,304,476
Ensembl chr  X:67,135,317...67,304,467 		JBrowse link
G Cdc45 cell division cycle 45 ISO ClinVar Annotator: match by term: Androgen insensitivity syndrome due to coactivator deficiency ClinVar PMID:28492532 NCBI chr11:95,689,702...95,714,980
Ensembl chr11:95,689,919...95,714,981 		JBrowse link
Anorchia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dhx37 DEAH-box helicase 37 ISO ClinVar Annotator: match by term: TESTICULAR REGRESSION, EMBRYONIC | ClinVar Annotator: match by term: Testicular regression syndrome OMIM
ClinVar		 PMID:25741868 PMID:26539891 PMID:28492532 PMID:30582406 PMID:31287541 More... NCBI chr12:36,856,119...36,876,245
Ensembl chr12:36,849,701...36,876,240 		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: HHAT-related condition 		OMIM
MouseDO
ClinVar		 PMID:24784881 PMID:25741868 PMID:28492532 PMID:30912300 NCBI chr13:106,558,635...106,814,723
Ensembl chr13:106,541,866...106,811,563 		JBrowse link
complete 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: Complete androgen insensitivity syndrome ClinVar PMID:25741868 NCBI chr  X:67,135,317...67,304,476
Ensembl chr  X:67,135,317...67,304,467 		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: CYP11A1-related condition | 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:16199547 More... NCBI chr 8:67,318,665...67,330,196
Ensembl chr 8:67,270,556...67,330,196 		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 chr12:19,043,004...19,065,686
Ensembl chr12:19,042,591...19,055,369 		JBrowse link
G Glb1 galactosidase, beta 1 ISO ClinVar Annotator: match by term: D-bifunctional protein deficiency ClinVar PMID:10338095 PMID:15986423 PMID:16385454 PMID:16941474 PMID:17309651 More... NCBI chr 8:122,963,718...123,036,326
Ensembl chr 8:122,963,718...123,036,326 		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 | ClinVar Annotator: match by term: PBFE DEFICIENCY
OMIM:261515
DNA:mutations:multiple (human) 		ClinVar
MouseDO
OMIM
RGD		 PMID:2868085 PMID:2882519 PMID:2921319 PMID:8279468 PMID:9345094 More... RGD:1599968, RGD:10411884 NCBI chr18:45,515,427...45,604,467
Ensembl chr18:45,515,373...45,604,467 		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:67,135,317...67,304,476
Ensembl chr  X:67,135,317...67,304,467 		JBrowse link
G Wt1 WT1 transcription factor ISO
ISS 		ClinVar Annotator: match by term: Drash syndrome | ClinVar Annotator: match by term: Nephropathy, wilms tumor, and genital anomalies | ClinVar Annotator: match by term: WILMS TUMOR AND PSEUDO- OR TRUE HERMAPHRODITISM
OMIM:194080
CTD Direct Evidence: marker/mechanism 		ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:1302008 PMID:1317572 PMID:1327525 PMID:1338906 PMID:1655284 More... RGD:1580624 NCBI chr 3:112,019,721...112,068,454
Ensembl chr 3:112,021,641...112,068,444 		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 3:112,019,721...112,068,454
Ensembl chr 3:112,021,641...112,068,444 		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 Wfdc17 WAP four-disulfide core domain 17 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 chr10:69,059,451...69,060,298 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 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:1456217 PMID:6881209 PMID:7795583 PMID:7874169 PMID:9536098 More... NCBI chr16:73,194,631...73,249,855
Ensembl chr16:73,194,631...73,249,855 		JBrowse link
G Prokr2 prokineticin receptor 2 ISO ClinVar Annotator: match by term: Kallmann syndrome 2
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 3:140,077,629...140,092,327
Ensembl chr 3:140,077,630...140,092,093 		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: PROKR2-related condition OMIM
ClinVar		 PMID:1855992 PMID:2403109 PMID:4276467 PMID:8954047 PMID:11259612 More... NCBI chr 3:140,077,629...140,092,327
Ensembl chr 3:140,077,630...140,092,093 		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:16199547 PMID:17054399 PMID:17959774 PMID:18285834 PMID:18559922 More... NCBI chr 4:133,903,210...133,918,126
Ensembl chr 4:133,903,210...133,917,933 		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 chr16:73,194,631...73,249,855
Ensembl chr16:73,194,631...73,249,855 		JBrowse link
Kallmann syndrome 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: Hypogonadism with anosmia
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD		 PMID:18414213 PMID:18445044 PMID:21158681 PMID:22461308 PMID:24033266 More... NCBI chr 5:26,609,245...26,792,736
Ensembl chr 5:26,609,407...26,792,734 		JBrowse link
G Fgf8 fibroblast growth factor 8 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:254,533,504...254,539,605
Ensembl chr 1:254,533,504...254,539,605 		JBrowse link
G Fgfr1 Fibroblast growth factor receptor 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hypogonadism with anosmia 		CTD
ClinVar		 PMID:25741868 NCBI chr16:73,194,631...73,249,855
Ensembl chr16:73,194,631...73,249,855 		JBrowse link
G Pnpla6 patatin-like phospholipase domain containing 6 ISO ClinVar Annotator: match by term: Hypogonadism with anosmia ClinVar PMID:25741868 NCBI chr12:6,372,284...6,401,632
Ensembl chr12:6,372,293...6,401,631 		JBrowse link
G Prok2 prokineticin 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:133,903,210...133,918,126
Ensembl chr 4:133,903,210...133,917,933 		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 3:140,077,629...140,092,327
Ensembl chr 3:140,077,630...140,092,093 		JBrowse link
G Sox10 SRY-box transcription factor 10 ISO
ISS 		DNA:mutations:cds: MouseDO
RGD		 PMID:23643381 RGD:12832748 NCBI chr 7:112,605,721...112,615,097
Ensembl chr 7:112,605,721...112,615,990 		JBrowse link
G Spry4 sprouty RTK signaling antagonist 4 ISO ClinVar Annotator: match by term: Hypogonadism with anosmia ClinVar PMID:25741868 NCBI chr18:30,687,633...30,702,546
Ensembl chr18:30,687,039...30,704,173 		JBrowse link
G Sra1 steroid receptor RNA activator 1 ISO ClinVar Annotator: match by term: Hypogonadism with anosmia ClinVar NCBI chr18:28,543,347...28,547,474
Ensembl chr18:28,543,348...28,546,575 		JBrowse link
G Tcf12 transcription factor 12 ISO ClinVar Annotator: match by term: Hypogonadism with anosmia ClinVar PMID:25741868 PMID:32629054 NCBI chr 8:81,371,201...81,682,337
Ensembl chr 8:81,373,321...81,679,922 		JBrowse link
G Wdr11 WD repeat domain 11 ISS MouseDO NCBI chr 1:193,595,606...193,641,149
Ensembl chr 1:193,595,535...193,641,142 		JBrowse link
G Wfdc17 WAP four-disulfide core domain 17 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: HYPOGONADOTROPIC HYPOGONADISM AND ANOSMIA 		CTD
ClinVar		 PMID:23533228 PMID:25741868 PMID:28492532 NCBI chr10:69,059,451...69,060,298 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 CTD Direct Evidence: marker/mechanism OMIM
CTD		 PMID:7719343 NCBI chr 6:11,415,361...11,480,834
Ensembl chr 6:11,415,415...11,478,061 		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 8:67,318,665...67,330,196
Ensembl chr 8:67,270,556...67,330,196 		JBrowse link
G Star steroidogenic acute regulatory protein ISO ClinVar Annotator: match by term: Congenital Lipoid Adrenal Hyperplasia | ClinVar Annotator: match by term: Congenital lipoid adrenal hyperplasia | 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 chr16:72,969,824...72,974,447
Ensembl chr16:72,961,518...72,974,447 		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:17970778 PMID:23637914 PMID:25326637 More... NCBI chr  X:67,135,317...67,304,476
Ensembl chr  X:67,135,317...67,304,467 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Meacham Winn Culler syndrome | ClinVar Annotator: match by term: Meacham syndrome 		OMIM
CTD
ClinVar		 PMID:1302008 PMID:1317572 PMID:1327525 PMID:1338906 PMID:1655284 More... NCBI chr 3:112,019,721...112,068,454
Ensembl chr 3:112,021,641...112,068,444 		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 OMIM NCBI chr 6:78,382,849...78,406,037
Ensembl chr 6:78,382,855...78,406,201 		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:17,280,072...17,288,928
Ensembl chr  X:17,280,074...17,288,613 		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:67,135,317...67,304,476
Ensembl chr  X:67,135,317...67,304,467 		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 chr13:32,499,678...32,716,418
Ensembl chr13:32,499,678...32,716,418 		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 CTD Direct Evidence: marker/mechanism
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 		OMIM
CTD
ClinVar		 PMID:1483695 PMID:1809231 PMID:2023927 PMID:2562843 PMID:8162013 More... NCBI chr 7:9,557,451...9,559,867
Ensembl chr 7:9,557,451...9,559,867 		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 7:135,454,517...135,470,183
Ensembl chr 7:135,457,922...135,471,104 		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:755047 PMID:835597 PMID:1147889 PMID:1406794 More... NCBI chr 6:27,178,089...27,217,588
Ensembl chr 6:27,178,079...27,217,588 		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:15863664 PMID:17576681 PMID:17643447 PMID:18055909 More... NCBI chr15:41,635,572...41,707,252
Ensembl chr15:41,635,572...41,681,609 		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: WAGR Complex ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:112,617,020...112,839,963
Ensembl chr 3:112,617,035...112,839,963 		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: WAGR Complex 		CTD
ClinVar		 PMID:9727514 PMID:10234503 PMID:12634864 PMID:12868034 PMID:15086958 More... NCBI chr 3:112,590,034...112,611,771
Ensembl chr 3:112,590,391...112,611,763 		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: WAGR Complex
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD		 PMID:1302008 PMID:1327525 PMID:1338906 PMID:1655284 PMID:1658787 More... RGD:1331525 NCBI chr 3:112,019,721...112,068,454
Ensembl chr 3:112,021,641...112,068,444 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14566
    disease of anatomical entity 13676
      endocrine system disease 5302
        gonadal disease 1207
          disorder of sexual development 205
            46, XY Disorders of Sex Development 56
              17-beta hydroxysteroid dehydrogenase 3 deficiency + 5
              46,XY complete gonadal dysgenesis + 18
              Denys-Drash syndrome 2
              Frasier syndrome 1
              Kallmann syndrome + 12
              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 1
              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 14566
    Developmental Disease 8303
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7730
        Congenital Abnormalities 3298
          Urogenital Abnormalities 341
            disorder of sexual development 205
              46, XY Disorders of Sex Development 56
                17-beta hydroxysteroid dehydrogenase 3 deficiency + 5
                46,XY complete gonadal dysgenesis + 18
                Denys-Drash syndrome 2
                Frasier syndrome 1
                Kallmann syndrome + 12
                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 1
                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