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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.


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 Amhr2 anti-Mullerian hormone receptor type 2 ISO ClinVar Annotator: match by term: Male pseudohermaphroditism ClinVar NCBI chr 7:144,052,202...144,060,678
Ensembl chr 7:144,052,061...144,060,685
JBrowse link
G Cyp11a1 cytochrome P450, family 11, subfamily a, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11502818 NCBI chr 8:62,798,317...62,809,848
Ensembl chr 8:62,779,875...62,809,893
JBrowse link
G Lhcgr luteinizing hormone/choriogonadotropin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:7719343, PMID:19887492 NCBI chr 6:12,493,182...12,554,482
Ensembl chr 6:12,493,943...12,554,439
JBrowse link
G Nr5a1 nuclear receptor subfamily 5, group A, member 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:22,998,900...23,020,441
Ensembl chr 3:22,999,616...23,020,441
JBrowse link
17-Hydroxysteroid Dehydrogenase 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: 17-Beta-Hydroxysteroid Dehydrogenase III Deficiency
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:8469252, PMID:8550739, PMID:8626842, PMID:9029729, PMID:9467575, PMID:9709959, PMID:9758445, PMID:10022457, PMID:10599740, PMID:11158067, PMID:17071532, PMID:17466011, PMID:17509588, PMID:19498320, PMID:20689261, PMID:21214500, PMID:22212252, PMID:23295294, PMID:23375913, PMID:24025597, PMID:24033266, PMID:25383892, PMID:25526675, PMID:25536660, PMID:25740850, PMID:25741868, PMID:28492532 NCBI chr17:1,579,319...1,610,745
Ensembl chr17:1,579,319...1,610,745
JBrowse link
46,Xy Gonadal Dysgenesis, Complete, Sry-Related term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sry sex determining region Y ISO ClinVar Annotator: match by term: SRY-related 46,XY complete gonadal dysgenesis ClinVar PMID:1339396, PMID:1415266, PMID:1438307, PMID:1483689, PMID:1570829, PMID:1619028, PMID:1639410, PMID:1734522, PMID:1956279, PMID:2247149, PMID:2247151, PMID:2401216, PMID:7718558, PMID:7985018, PMID:7987333, PMID:8019555, PMID:8105086, PMID:8257986, PMID:8353496, PMID:9150734, PMID:9443877, PMID:9450909, PMID:9521592, PMID:10843173, PMID:10852465, PMID:12107262, PMID:12409269, PMID:12793612, PMID:20528776, PMID:25741868, PMID:28492532, PMID:28787711 NCBI chr  Y:327,176...327,685
Ensembl chr  Y:327,166...329,299
JBrowse link
46,XY Partial Gonadal Dysgenesis, with Minifascicular Neuropathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dhh desert hedgehog signaling molecule ISO ClinVar Annotator: match by term: 46,XY gonadal dysgenesis, partial, with minifascicular neuropathy
ClinVar Annotator: match by OMIM:607080
OMIM
ClinVar
PMID:11017805, PMID:11891836, PMID:25927242, PMID:28589169, PMID:28708305, PMID:29471294 NCBI chr 7:140,575,288...140,580,783
Ensembl chr 7:140,575,288...140,580,783
JBrowse link
46,XY sex reversal term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dhh desert hedgehog signaling molecule susceptibility ISO
ISS
DNA:missense mutation:exon
OMIM:154230 | OMIM:233420 | OMIM:300018 | OMIM:400044 | OMIM:607080 | OMIM:612965 | OMIM:613080 | OMIM:613762 | OMIM:614279 | OMIM:616067
ClinVar Annotator: match by term: 46,XY DSD/46,XY CGD
MouseDO
ClinVar
PMID:11017805 RGD:1601053 NCBI chr 7:140,575,288...140,580,783
Ensembl chr 7:140,575,288...140,580,783
JBrowse link
G Nr5a1 nuclear receptor subfamily 5, group A, member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10369247, PMID:11932325, PMID:15070943 NCBI chr 3:22,998,900...23,020,441
Ensembl chr 3:22,999,616...23,020,441
JBrowse link
G Sry sex determining region Y ISO CTD Direct Evidence: marker/mechanism CTD PMID:27576690, PMID:2247151, PMID:8257986 RGD:1599179, RGD:1598780 NCBI chr  Y:327,176...327,685
Ensembl chr  Y:327,166...329,299
JBrowse link
46,XY sex reversal 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sry sex determining region Y ISO ClinVar Annotator: match by term: 46,XY SEX REVERSAL, SRY-RELATED
ClinVar Annotator: match by OMIM:400044
OMIM
ClinVar
PMID:1339396, PMID:1415266, PMID:1438307, PMID:1483689, PMID:1570829, PMID:1619028, PMID:1639410, PMID:1734522, PMID:1956279, PMID:2247149, PMID:2247151, PMID:2401216, PMID:7718558, PMID:7985018, PMID:7987333, PMID:8019555, PMID:8105086, PMID:8257986, PMID:8353496, PMID:9150734, PMID:9443877, PMID:9450909, PMID:9521592, PMID:10843173, PMID:10852465, PMID:12107262, PMID:12409269, PMID:12793612, PMID:20528776, PMID:25741868, PMID:28492532, PMID:28787711 NCBI chr  Y:327,176...327,685
Ensembl chr  Y:327,166...329,299
JBrowse link
46,XY sex reversal 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sox9 SRY-box transcription factor 9 ISO ClinVar Annotator: match by OMIM:616425 ClinVar
OMIM
PMID:567843, PMID:6620326, PMID:22051515, PMID:25604083 NCBI chr10:101,288,528...101,294,030
Ensembl chr10:101,288,489...101,293,379
JBrowse link
46,XY sex reversal 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nr0b1 nuclear receptor subfamily 0, group B, member 1 ISO ClinVar Annotator: match by OMIM:300018 OMIM
ClinVar
PMID:9486644 NCBI chr  X:54,734,385...54,738,513
Ensembl chr  X:54,734,385...54,738,513
JBrowse link
46,XY sex reversal 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gata4 GATA binding protein 4 ISO ClinVar Annotator: match by term: DISORDER OF SEX DEVELOPMENT, 46,XY, NR5A1-RELATED ClinVar PMID:17643447, PMID:18672102, PMID:19302747, PMID:19678963, PMID:21110066, PMID:21519287, PMID:22011241, PMID:24033266, PMID:25741868, PMID:26014430, PMID:26490186, PMID:26997702, PMID:27899157, PMID:28492532, PMID:29368431 NCBI chr15:46,386,703...46,458,679
Ensembl chr15:46,386,712...46,432,965
JBrowse link
G Nr5a1 nuclear receptor subfamily 5, group A, member 1 ISO ClinVar Annotator: match by term: DISORDER OF SEX DEVELOPMENT, 46,XY, NR5A1-RELATED
ClinVar Annotator: match by term: 46,XY SEX REVERSAL, PARTIAL OR COMPLETE, NR5A1-RELATED
ClinVar
OMIM
PMID:11932325, PMID:15070943, PMID:15472171, PMID:15579739, PMID:17200175, PMID:18414213, PMID:19246354, PMID:22028768, PMID:22907560, PMID:23154282, PMID:25122490, PMID:25326637, PMID:25383892, PMID:25741868, PMID:26523528, PMID:27169744, PMID:27378692, PMID:27490115, PMID:27610946, PMID:27855412, PMID:28492532 NCBI chr 3:22,998,900...23,020,441
Ensembl chr 3:22,999,616...23,020,441
JBrowse link
G Zfpm2 zinc finger protein, multitype 2 ISO ClinVar Annotator: match by term: DISORDER OF SEX DEVELOPMENT, 46,XY, NR5A1-RELATED ClinVar PMID:14517948, PMID:17568391, PMID:20807224, PMID:21919901, PMID:24033266, PMID:24549039, PMID:24702427, PMID:25741868, PMID:28492532 NCBI chr 7:79,471,277...79,964,405
Ensembl chr 7:79,638,046...79,964,405
JBrowse link
46,XY sex reversal 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dmrt1 doublesex and mab-3 related transcription factor 1 ISO ClinVar Annotator: match by term: 46,XY GONADAL DYSGENESIS, PARTIAL OR COMPLETE, WITH 9p24.3 DELETION ClinVar PMID:25741868 NCBI chr 1:243,477,403...243,582,629
Ensembl chr 1:243,477,493...243,582,629
JBrowse link
46,XY sex reversal 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cbx2 chromobox 2 ISO ClinVar Annotator: match by OMIM:613080 OMIM
ClinVar
PMID:19361780, PMID:25741868 NCBI chr10:108,132,105...108,140,935
Ensembl chr10:108,132,105...108,140,935
JBrowse link
46,XY sex reversal 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Map3k1 mitogen-activated protein kinase kinase kinase 1 ISO ClinVar Annotator: match by term: 46,XY sex reversal, type 6
ClinVar Annotator: match by term: 46,XY GONADAL DYSGENESIS, PARTIAL OR COMPLETE, MAP3K1-RELATED
ClinVar Annotator: match by OMIM:613762
OMIM
ClinVar
PMID:5419329, PMID:12476449, PMID:12786760, PMID:21129722, PMID:22171599, PMID:24135036, PMID:25326637, PMID:25383892, PMID:25741868, PMID:28492532, PMID:28504475 NCBI chr 2:43,329,516...43,393,203
Ensembl chr 2:43,329,516...43,393,207
JBrowse link
46,XY sex reversal 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dhh desert hedgehog signaling molecule ISO ClinVar Annotator: match by term: 46,XY gonadal dysgenesis, complete, dhh-related
ClinVar Annotator: match by term: DHH-Related 46,XY complete gonadal dysgenesis
ClinVar Annotator: match by OMIM:233420
OMIM
ClinVar
PMID:15356051, PMID:25741868, PMID:28492532, PMID:30298535 NCBI chr 7:140,575,288...140,580,783
Ensembl chr 7:140,575,288...140,580,783
JBrowse link
46,XY sex reversal 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akr1c1 aldo-keto reductase family 1, member C1 ISO ClinVar Annotator: match by OMIM:614279 OMIM
ClinVar
PMID:4352099, PMID:21802064 NCBI chr17:69,441,253...69,460,334
Ensembl chr17:69,441,223...69,460,321
JBrowse link
G Akr1c2 aldo-keto reductase family 1, member C2 ISO ClinVar Annotator: match by term: 46,XY sex reversal 8
ClinVar Annotator: match by OMIM:614279
OMIM
ClinVar
PMID:4352099, PMID:21802064, PMID:25741868 NCBI chr17:69,388,337...69,435,160
Ensembl chr17:69,388,335...69,404,341
JBrowse link
46,XY sex reversal 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zfpm2 zinc finger protein, multitype 2 ISO ClinVar Annotator: match by OMIM:616067
ClinVar Annotator: match by term: 46,XY SEX REVERSAL, ZFPM2-RELATED
ClinVar Annotator: match by term: 46,XY sex reversal 9
ClinVar
OMIM
PMID:14517948, PMID:17568391, PMID:20807224, PMID:21919901, PMID:24033266, PMID:24549039, PMID:24702427, PMID:25741868, PMID:28492532 NCBI chr 7:79,471,277...79,964,405
Ensembl chr 7:79,638,046...79,964,405
JBrowse link
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, PMID:8257986, PMID:9450909, PMID:12793612 NCBI chr  Y:327,176...327,685
Ensembl chr  Y:327,166...329,299
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
ClinVar Annotator: match by term: Dihydrotestosterone receptor deficiency
ClinVar Annotator: match by term: Partial androgen insensitivity syndrome
ClinVar Annotator: match by term: Reifenstein 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
ClinVar Annotator: match by OMIM:300068
ClinVar Annotator: match by OMIM:312300
OMIM
ClinVar
CTD
PMID:1158706, PMID:1303262, PMID:1307250, PMID:1430233, PMID:1458719, PMID:1569163, PMID:1598912, PMID:1609793, PMID:1720929, PMID:2082179, PMID:2293020, PMID:2332504, PMID:2339702, PMID:2594783, PMID:3174628, PMID:3186717, PMID:3216866, PMID:4061484, PMID:7537149, PMID:7581399, PMID:7641413, PMID:7671849, PMID:7910529, PMID:7970939, PMID:7981687, PMID:7981689, PMID:8033918, PMID:8040309, PMID:8096390, PMID:8097257, PMID:8126121, PMID:8162033, PMID:8281139, PMID:8325932, PMID:8339746, PMID:8413310, PMID:8450040, PMID:8450042, PMID:8626869, PMID:8723113, PMID:8809734, PMID:8823308, PMID:8824883, PMID:8990010, PMID:9039340, PMID:9328206, PMID:9360511, PMID:9543136, PMID:9544375, PMID:9576916, PMID:9627582, PMID:9698822, PMID:9768671, PMID:9788719, PMID:9856504, PMID:10092153, PMID:10221770, PMID:10323251, PMID:10323385, PMID:10425033, PMID:10458483, PMID:10690872, PMID:10834333, PMID:10840043, PMID:11181525, PMID:11225909, PMID:11376111, PMID:11397856, PMID:11549642, PMID:11579211, PMID:11587068, PMID:11788616, PMID:11788673, PMID:11889162, PMID:12068007, PMID:12213902, PMID:12466388, PMID:12705360, PMID:12843171, PMID:14974091, PMID:15531547, PMID:15541764, PMID:15925895, PMID:16083860, PMID:16283146, PMID:16365032, PMID:16373394, PMID:16450583, PMID:17054461, PMID:17937062, PMID:19463997, PMID:20011049, PMID:20150575, PMID:20493947, PMID:20671138, PMID:21730179, PMID:21962961, PMID:22334387, PMID:22995991, PMID:24033266, PMID:24186138, PMID:24321103, PMID:24737579, PMID:24790346, PMID:25241384, PMID:25248670, PMID:25326637, PMID:25433660, PMID:25613104, PMID:25674389, PMID:25741868, PMID:26688387, PMID:26778393, PMID:26980296, PMID:27267075, PMID:27583472, PMID:27899157, PMID:28186600, PMID:28261839, PMID:28456808, PMID:28492532, PMID:28624954, PMID:28857053, PMID:29051026, PMID:29785970, PMID:30311386, PMID:30599484, PMID:1487249, PMID:8325950, PMID:1424203, PMID:20888558, PMID:7970939, PMID:3186717, PMID:7643075 RGD:11576240, RGD:11576235, RGD:11576233, RGD:11576232, RGD:11571628, RGD:11571627, RGD:11571622 NCBI chr  X:67,656,253...67,828,998
Ensembl chr  X:67,656,253...67,829,026
JBrowse link
G Fkbp4 FKBP prolyl isomerase 4 ISS OMIM:300068 MouseDO NCBI chr 4:161,748,993...161,757,447
Ensembl chr 4:161,748,993...161,757,447
JBrowse link
G Kat7 lysine acetyltransferase 7 ISO protein:decreased expression:testes (human) RGD PMID:23707616 RGD:9681005 NCBI chr10:83,095,067...83,128,342
Ensembl chr10:83,095,068...83,128,297
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:30311386 NCBI chr  X:67,656,253...67,828,998
Ensembl chr  X:67,656,253...67,829,026
JBrowse link
Anorchia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dhx37 DEAH-box helicase 37 ISO ClinVar Annotator: match by term: Congenital absence of testes OMIM
ClinVar
PMID:31287541, PMID:31337883 NCBI chr12:36,594,058...36,614,165
Ensembl chr12:36,594,047...36,614,210
JBrowse link
chondrodysplasia-pseudohermaphroditism syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hhat hedgehog acyltransferase ISS OMIM:600092 MouseDO NCBI chr13:111,235,325...111,489,075
Ensembl chr13:111,236,466...111,474,411
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 NCBI chr 3:95,733,810...95,954,987 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, PMID:25741868, PMID:28492532 NCBI chr 3:95,700,241...95,728,682
Ensembl chr 3:95,707,386...95,728,624
JBrowse link
congenital adrenal insufficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp11a1 cytochrome P450, family 11, subfamily a, polypeptide 1 ISO ClinVar Annotator: match by term: Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete
ClinVar Annotator: match by term: Congenital Adrenal Insufficiency
ClinVar Annotator: match by OMIM:613743
OMIM
ClinVar
PMID:11502818, PMID:12161514, PMID:15507506, PMID:16705068, PMID:18182448, PMID:19116240, PMID:21159840, PMID:24033266, PMID:25741868, PMID:26300845, PMID:27008691, PMID:28492532 NCBI chr 8:62,798,317...62,809,848
Ensembl chr 8:62,779,875...62,809,893
JBrowse link
D-bifunctional protein deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hsd17b4 hydroxysteroid (17-beta) dehydrogenase 4 severity ISO ClinVar Annotator: match by term: DBP deficiency
DNA:mutations:multiple (human)
ClinVar
OMIM
PMID:9482850, PMID:9915948, PMID:10419023, PMID:10497229, PMID:16385454, PMID:22864515, PMID:23181892, PMID:24033266, PMID:24108619, PMID:25741868, PMID:25967389, PMID:26970254, PMID:27290639, PMID:28492532, PMID:30311386, PMID:9345094, PMID:16385454 RGD:1599968, RGD:10411884 NCBI chr18:44,810,462...44,897,677
Ensembl chr18:44,810,388...44,897,640
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:67,656,253...67,828,998
Ensembl chr  X:67,656,253...67,829,026
JBrowse link
G Wt1 WT1 transcription factor ISO ClinVar Annotator: match by term: Drash syndrome
ClinVar Annotator: match by term: WILMS TUMOR AND PSEUDO- OR TRUE HERMAPHRODITISM
ClinVar Annotator: match by OMIM:194080
ClinVar
OMIM
PMID:1302008, PMID:1327525, PMID:1338906, PMID:1350671, PMID:1655284, PMID:1658787, PMID:1671709, PMID:6307071, PMID:7795587, PMID:8295405, PMID:8388765, PMID:8621495, PMID:8975729, PMID:9090524, PMID:9108089, PMID:9398852, PMID:9475094, PMID:9499425, PMID:9529364, PMID:9607189, PMID:10094551, PMID:10470095, PMID:10505700, PMID:10571943, PMID:10603123, PMID:10762296, PMID:11182928, PMID:12050205, PMID:12471221, PMID:12640141, PMID:12970737, PMID:15150775, PMID:15266301, PMID:15483024, PMID:15509792, PMID:16717397, PMID:16987884, PMID:17496156, PMID:17541636, PMID:17630404, PMID:17853480, PMID:18203154, PMID:18385267, PMID:18559874, PMID:18591546, PMID:19171881, PMID:19221039, PMID:19484379, PMID:19494353, PMID:19536888, PMID:20368469, PMID:20413658, PMID:20435628, PMID:20442690, PMID:21384108, PMID:21508141, PMID:21851196, PMID:22465478, PMID:22703879, PMID:23117548, PMID:23295293, PMID:23349334, PMID:23497137, PMID:23515051, PMID:23715653, PMID:23935527, PMID:24033266, PMID:24138039, PMID:24161391, PMID:24402088, PMID:24728327, PMID:24856380, PMID:25110071, PMID:25451826, PMID:25501161, PMID:25741868, PMID:25818337, PMID:25932436, PMID:26069768, PMID:26358501, PMID:26467025, PMID:26725263, PMID:27013732, PMID:27241786, PMID:27300205, PMID:27719739, PMID:27899157, PMID:28204945, PMID:28334862, PMID:28492532, PMID:28811308, PMID:29668062, PMID:30963316, PMID:31937884, PMID:32581362, PMID:12161615 RGD:1580624 NCBI chr 3:95,133,221...95,180,574
Ensembl chr 3:95,133,713...95,180,564
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
ClinVar Annotator: match by OMIM:136680
OMIM
ClinVar
PMID:1302008, PMID:1658787, PMID:7795587, PMID:8388765, PMID:9108089, PMID:9398852, PMID:9499425, PMID:9529364, PMID:10094551, PMID:10571943, PMID:10762296, PMID:12050205, PMID:12471221, PMID:15150775, PMID:19484379, PMID:20442690, PMID:21508141, PMID:21851196, PMID:23117548, PMID:23295293, PMID:23515051, PMID:24033266, PMID:24161391, PMID:24856380, PMID:25741868, PMID:25818337, PMID:27719739, PMID:28204945, PMID:28492532, PMID:29668062, PMID:32581362 NCBI chr 3:95,133,221...95,180,574
Ensembl chr 3:95,133,713...95,180,564
JBrowse link
Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy and Myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ppp2r3c protein phosphatase 2, regulatory subunit B'', gamma ISO ClinVar Annotator: match by term: GONADAL DYSGENESIS, DYSMORPHIC FACIES, RETINAL DYSTROPHY, AND MYOPATHY ClinVar
OMIM
PMID:30893644 NCBI chr 6:76,056,585...76,079,755
Ensembl chr 6:76,056,499...76,079,664
JBrowse link
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
ClinVar Annotator: match by term: Kallmann syndrome 1
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1)
OMIM
ClinVar
PMID:1518845, PMID:1594017, PMID:1639422, PMID:1904396, PMID:8504298, PMID:9589672, PMID:9713559, PMID:11044805, PMID:11297579, PMID:12050219, PMID:12727945, PMID:15001591, PMID:15605412, PMID:16882753, PMID:17054399, PMID:21681106, PMID:21717404, PMID:22035731, PMID:23100014, PMID:23410897, PMID:23533228, PMID:23643382, PMID:23849776, PMID:25077900, PMID:25339597, PMID:25741868, PMID:26708526, PMID:26862482, PMID:27657687, PMID:28295047, PMID:28492532, PMID:28566479, PMID:28708303 Ensembl chr10:70,999,780...71,000,627 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 or without anosmia
ClinVar Annotator: match by term: Kallmann syndrome 2
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with anosmia
ClinVar Annotator: match by term: HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA, SUSCEPTIBILITY TO
OMIM
ClinVar
PMID:6881209, PMID:7795583, PMID:7874169, PMID:10629055, PMID:10690855, PMID:10861678, PMID:10942429, PMID:11173846, PMID:12627230, PMID:14513299, PMID:14564217, PMID:14613973, PMID:15365636, PMID:15605412, PMID:15793702, PMID:16418210, PMID:16606836, PMID:16764984, PMID:16882753, PMID:16957473, PMID:17154279, PMID:17200176, PMID:17235395, PMID:17360555, PMID:17963255, PMID:18160472, PMID:18596921, PMID:18985070, PMID:19707180, PMID:19820032, PMID:20696889, PMID:21700882, PMID:22378383, PMID:23329143, PMID:23533228, PMID:23643382, PMID:23657145, PMID:24127277, PMID:24204987, PMID:24497711, PMID:24759409, PMID:25064402, PMID:25251565, PMID:25383892, PMID:25394172, PMID:25425165, PMID:25636053, PMID:25741868, PMID:25759380, PMID:26467025, PMID:26708526, PMID:26931467, PMID:27502037, PMID:28008864, PMID:28492532, PMID:28754744 NCBI chr16:71,265,390...71,319,046
Ensembl chr16:71,266,248...71,319,449
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: Kallmann syndrome 3
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 3 without anosmia
OMIM
ClinVar
PMID:1855992, PMID:4276467, PMID:8954047, PMID:11259612, PMID:17054399, PMID:18559922, PMID:18682503, PMID:18723471, PMID:18826963, PMID:20022991, PMID:20696889, PMID:20981092, PMID:21209029, PMID:21247312, PMID:21858136, PMID:22035731, PMID:22319038, PMID:22399515, PMID:22466334, PMID:22745195, PMID:22773735, PMID:22927827, PMID:22995991, PMID:23082007, PMID:23200691, PMID:23386640, PMID:23533228, PMID:23596439, PMID:23643382, PMID:24031091, PMID:24276467, PMID:24753254, PMID:24830383, PMID:25226293, PMID:25678757, PMID:25741868, PMID:25759380, PMID:26031747, PMID:26467025, PMID:27168972, PMID:28492532, PMID:30311386 NCBI chr 3:125,006,180...125,021,020
Ensembl chr 3:125,009,260...125,017,377
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
OMIM
PMID:17054399, PMID:17959774, PMID:18285834, PMID:18559922, PMID:18682503, PMID:23643382, PMID:24423319, PMID:25741868, PMID:26467025, PMID:30311386 NCBI chr 4:132,157,556...132,171,244
Ensembl chr 4:132,157,556...132,171,153
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 chr16:71,265,390...71,319,046
Ensembl chr16:71,266,248...71,319,449
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 Ensembl chr10:70,999,780...71,000,627 JBrowse link
G Chd7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by OMIM:612370
ClinVar Annotator: match by term: Kallmann Syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:18414213, PMID:18445044, PMID:21158681, PMID:22461308, PMID:24033266, PMID:25077900, PMID:25741868, PMID:26467025, PMID:28475860, PMID:28492532, PMID:29304373 NCBI chr 5:21,769,087...21,952,036
Ensembl chr 5:21,830,882...21,950,696
JBrowse link
G Fgf8 fibroblast growth factor 8 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:265,492,949...265,498,965
Ensembl chr 1:265,493,124...265,498,831
JBrowse link
G Fgfr1 Fibroblast growth factor receptor 1 ISO ClinVar Annotator: match by OMIM:147950
ClinVar Annotator: match by term: Hypogonadism with anosmia
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:25741868 NCBI chr16:71,265,390...71,319,046
Ensembl chr16:71,266,248...71,319,449
JBrowse link
G Polr2f RNA polymerase II, I and III subunit F ISO ClinVar Annotator: match by term: Hypogonadism with anosmia ClinVar NCBI chr 7:120,380,543...120,392,214
Ensembl chr 7:120,380,544...120,390,954
JBrowse link
G Prok2 prokineticin 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:132,157,556...132,171,244
Ensembl chr 4:132,157,556...132,171,153
JBrowse link
G Prokr2 prokineticin receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:125,006,180...125,021,020
Ensembl chr 3:125,009,260...125,017,377
JBrowse link
G Sox10 SRY-box transcription factor 10 ISO
ISS
DNA:mutations:cds:
ClinVar Annotator: match by term: Hypogonadism with anosmia
ClinVar
MouseDO
PMID:23643381 RGD:12832748 NCBI chr 7:120,393,238...120,403,523
Ensembl chr 7:120,393,254...120,403,523
JBrowse link
G Sra1 steroid receptor RNA activator 1 ISO ClinVar Annotator: match by term: Hypogonadism with anosmia ClinVar NCBI chr18:29,494,004...29,497,232
Ensembl chr18:29,494,014...29,497,410
JBrowse link
G Wdr11 WD repeat domain 11 ISS MouseDO NCBI chr 1:202,770,810...202,816,336
Ensembl chr 1:202,770,775...202,816,334
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:16763960, PMID:18073582, PMID:18414213, PMID:18445044, PMID:18834967, PMID:21158681, PMID:21995344, PMID:22033296, PMID:22461308, PMID:22539353, PMID:23378218, PMID:23533228, PMID:24033266, PMID:24862881, PMID:25077900, PMID:25107291, PMID:25741868, PMID:25931334, PMID:26467025, PMID:28492532, PMID:29255181, PMID:30311386, PMID:31042289 NCBI chr 5:21,769,087...21,952,036
Ensembl chr 5:21,830,882...21,950,696
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: LEYDIG CELL HYPOPLASIA, COMPLETE
ClinVar Annotator: match by term: Leydig cell agenesis
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: HYPERGONADOTROPIC HYPOGONADISM, MALE, DUE TO LHCGR DEFECT
ClinVar Annotator: match by OMIM:238320
ClinVar Annotator: match by synonym: LEYDIG CELL HYPOPLASIA, TYPE II
OMIM
ClinVar
CTD
PMID:7527413, PMID:7562970, PMID:7581384, PMID:7692306, PMID:7714085, PMID:7719343, PMID:7757065, PMID:7892197, PMID:8281137, PMID:8559204, PMID:8855841, PMID:8923827, PMID:8943222, PMID:9215288, PMID:9514160, PMID:9626144, PMID:9626653, PMID:9703386, PMID:9817592, PMID:10852464, PMID:11849253, PMID:12050206, PMID:12356766, PMID:15372531, PMID:15472221, PMID:16123233, PMID:16887451, PMID:21490077, PMID:23686864, PMID:23861372, PMID:25741868, PMID:25741869, PMID:26040673, PMID:26467025, PMID:28492532, PMID:30311386 NCBI chr 6:12,493,182...12,554,482
Ensembl chr 6:12,493,943...12,554,439
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 8:62,798,317...62,809,848
Ensembl chr 8:62,779,875...62,809,893
JBrowse link
G Star steroidogenic acute regulatory protein ISO ClinVar Annotator: match by term: Lipoid hyperplasia congenital of adrenal cortex with male pseudohermaphroditism
ClinVar Annotator: match by term: ADRENAL HYPERPLASIA I
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:201710
OMIM
ClinVar
CTD
PMID:7892608, PMID:8634702, PMID:8943003, PMID:8948562, PMID:9077535, PMID:9097960, PMID:9141542, PMID:9215316, PMID:10215405, PMID:10323391, PMID:10486704, PMID:10566637, PMID:10700722, PMID:11061515, PMID:11502818, PMID:11509019, PMID:12725533, PMID:14764819, PMID:15347444, PMID:15546900, PMID:15985476, PMID:16103714, PMID:16118340, PMID:16968793, PMID:17301050, PMID:18729825, PMID:19245813, PMID:19773404, PMID:20444910, PMID:21164258, PMID:21647419, PMID:21846663, PMID:22028173, PMID:22083155, PMID:22903695, PMID:23211570, PMID:23859637, PMID:23920000, PMID:24790358, PMID:24904850, PMID:24953586, PMID:25525159, PMID:25741868, PMID:25883920, PMID:26467025, PMID:26523528, PMID:26650942, PMID:26827627, PMID:27047663, PMID:28467518, PMID:28492532, PMID:28637490, PMID:29576868 NCBI chr16:71,036,204...71,040,847
Ensembl chr16:71,036,204...71,040,847
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 1:101,409,992...101,413,725
Ensembl chr 1:101,410,019...101,413,724
JBrowse link
Meacham Winn Culler Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wt1 WT1 transcription factor ISO ClinVar Annotator: match by term: Meacham syndrome
ClinVar Annotator: match by OMIM:608978
OMIM
ClinVar
PMID:1302008, PMID:1327525, PMID:1338906, PMID:1655284, PMID:6307071, PMID:7795587, PMID:8295405, PMID:9090524, PMID:9529364, PMID:9607189, PMID:10470095, PMID:10505700, PMID:10603123, PMID:11182928, PMID:12970737, PMID:15150775, PMID:15266301, PMID:15483024, PMID:15509792, PMID:17496156, PMID:17541636, PMID:17853480, PMID:18559874, PMID:18591546, PMID:19171881, PMID:19221039, PMID:19494353, PMID:19536888, PMID:20368469, PMID:20413658, PMID:20435628, PMID:23497137, PMID:23715653, PMID:23935527, PMID:24033266, PMID:24728327, PMID:25110071, PMID:25501161, PMID:25741868, PMID:25818337, PMID:25932436, PMID:26069768, PMID:26358501, PMID:26467025, PMID:26725263, PMID:27013732, PMID:27899157, PMID:28204945, PMID:28492532, PMID:32581362 NCBI chr 3:95,133,221...95,180,574
Ensembl chr 3:95,133,713...95,180,564
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: Partial androgen insensitivity syndrome
ClinVar Annotator: match by term: Androgen insensitivity, partial, with breast cancer
OMIM
ClinVar
PMID:1303262, PMID:1430233, PMID:1598912, PMID:2010552, PMID:2918059, PMID:7581399, PMID:8040309, PMID:8096390, PMID:8097257, PMID:8281139, PMID:8325932, PMID:8446106, PMID:8723113, PMID:8823308, PMID:8824883, PMID:9039340, PMID:9345099, PMID:9543136, PMID:9768671, PMID:9851768, PMID:10485299, PMID:10543676, PMID:10999818, PMID:11788616, PMID:11788673, PMID:15001585, PMID:15925895, PMID:16083860, PMID:16450583, PMID:16804045, PMID:17054461, PMID:20011049, PMID:24321103, PMID:24737579, PMID:25241384, PMID:25326637, PMID:25741868, PMID:26778393, PMID:27267075, PMID:28186600, PMID:28261839, PMID:28492532, PMID:28624954 NCBI chr  X:67,656,253...67,828,998
Ensembl chr  X:67,656,253...67,829,026
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, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 7:11,775,155...11,777,503
Ensembl chr 7:11,775,155...11,777,503
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 NCBI chr 7:144,052,202...144,060,678
Ensembl chr 7:144,052,061...144,060,685
JBrowse link
Pseudovaginal Perineoscrotal Hypospadias term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca4 ATP binding cassette subfamily A member 4 ISO ClinVar Annotator: match by term: 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency ClinVar PMID:24265693, PMID:25346251, PMID:25741868, PMID:28041643, PMID:28118664, PMID:28492532 NCBI chr 2:225,645,539...225,783,288
Ensembl chr 2:225,645,568...225,783,287
JBrowse link
G Srd5a2 steroid 5 alpha-reductase 2 ISO ClinVar Annotator: match by term: 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:264600
OMIM
ClinVar
CTD
PMID:431680, PMID:835597, PMID:1406794, PMID:1522235, PMID:1944596, PMID:2154055, PMID:2665940, PMID:7554313, PMID:7608269, PMID:8110760, PMID:8262007, PMID:8626825, PMID:8706317, PMID:8723114, PMID:8768837, PMID:8784107, PMID:9066886, PMID:9135696, PMID:9208814, PMID:9467575, PMID:9745434, PMID:9843052, PMID:10501358, PMID:10718838, PMID:10898110, PMID:10999800, PMID:11869378, PMID:12576851, PMID:12843198, PMID:14560315, PMID:14594182, PMID:15064320, PMID:15266301, PMID:15528927, PMID:15770495, PMID:17609295, PMID:18097518, PMID:18314109, PMID:18350250, PMID:18384427, PMID:18391525, PMID:18469342, PMID:18717241, PMID:19342739, PMID:19492581, PMID:20019388, PMID:20190539, PMID:20493473, PMID:20583543, PMID:20736251, PMID:21147889, PMID:21402750, PMID:21540559, PMID:21631525, PMID:22272144, PMID:22453073, PMID:22876553, PMID:23329752, PMID:23633205, PMID:24665940, PMID:24737579, PMID:24885102, PMID:25605705, PMID:25741868, PMID:25899528, PMID:26446026, PMID:26980298, PMID:27070133, PMID:27899157, PMID:28492532, PMID:28544750, PMID:28663096, PMID:288959874 NCBI chr 6:25,279,635...25,315,501
Ensembl chr 6:25,279,626...25,315,511
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 OMIM:615542 OMIM
ClinVar
PMID:21220346 NCBI chr15:46,386,703...46,458,679
Ensembl chr15:46,386,712...46,432,965
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, genitourinary anomalies, and mental retardation syndrome ClinVar NCBI chr 3:95,733,810...95,954,987 JBrowse link
G Pax6 paired box 6 ISO ClinVar Annotator: match by term: Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:194072
ClinVar
CTD
PMID:9727514, PMID:12868034, PMID:15086958, PMID:17417613, PMID:18776953, PMID:25741868, PMID:28492532 NCBI chr 3:95,700,241...95,728,682
Ensembl chr 3:95,707,386...95,728,624
JBrowse link
G Wt1 WT1 transcription factor ISO ClinVar Annotator: match by OMIM:194072
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:15118671 RGD:1331525 NCBI chr 3:95,133,221...95,180,574
Ensembl chr 3:95,133,713...95,180,564
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      endocrine system disease 4997
        gonadal disease 905
          disorder of sexual development 183
            46, XY Disorders of Sex Development 42
              17-Hydroxysteroid Dehydrogenase Deficiency + 2
              46,XY sex reversal + 16
              46,Xy True Hermaphroditism, Sry-Related 1
              Denys-Drash syndrome 2
              Frasier syndrome 1
              Kallmann syndrome + 10
              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 2
              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 16023
    Developmental Diseases 9537
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8371
        Congenital Abnormalities 4785
          Urogenital Abnormalities 288
            disorder of sexual development 183
              46, XY Disorders of Sex Development 42
                17-Hydroxysteroid Dehydrogenase Deficiency + 2
                46,XY sex reversal + 16
                46,Xy True Hermaphroditism, Sry-Related 1
                Denys-Drash syndrome 2
                Frasier syndrome 1
                Kallmann syndrome + 10
                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 2
                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

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.