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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:hypogonadism
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Accession:DOID:1924 term browser browse the term
Definition:Condition resulting from deficient gonadal functions, such as GAMETOGENESIS and the production of GONADAL STEROID HORMONES. It is characterized by delay in GROWTH, germ cell maturation, and development of secondary sex characteristics. Hypogonadism can be due to a deficiency of GONADOTROPINS (hypogonadotropic hypogonadism) or due to primary gonadal failure (hypergonadotropic hypogonadism).
Synonyms:exact_synonym: hypergonadotropic hypogonadism;   isolated hypogonadotropic hypogonadism
 narrow_synonym: Nonsyndromic hypergonadotropic hypogonadism
 primary_id: MESH:D007006
 alt_id: OMIM:241100;   RDO:0000554
 xref: NCI:C9227
For additional species annotation, visit the Alliance of Genome Resources.


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hypogonadism 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 IEP mRNA:decreased expression:testis (rat) RGD PMID:17880366 RGD:4833436 NCBI chr 8:62,798,317...62,809,848
Ensembl chr 8:62,779,875...62,809,893
JBrowse link
G Cyp17a1 cytochrome P450, family 17, subfamily a, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18645707 NCBI chr 1:266,422,127...266,429,947
Ensembl chr 1:266,422,132...266,428,239
JBrowse link
G Cyp19a1 cytochrome P450, family 19, subfamily a, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9177373 NCBI chr 8:58,744,849...58,772,408
Ensembl chr 8:58,744,849...58,772,408
JBrowse link
G Edn1 endothelin 1 IEP mRNA, protein:decreased expression:testis (rat) RGD PMID:17880366 RGD:4833436 NCBI chr17:22,136,814...22,143,745
Ensembl chr17:22,137,324...22,143,324
JBrowse link
G Fshb follicle stimulating hormone subunit beta ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:8263139, PMID:18449926, PMID:24739304 NCBI chr 3:98,088,321...98,092,131
Ensembl chr 3:98,088,324...98,092,131
JBrowse link
G Gnrh1 gonadotropin releasing hormone 1 treatment ISO CTD Direct Evidence: therapeutic CTD PMID:20063086, PMID:3097822 RGD:9685135 NCBI chr15:44,441,856...44,446,064
Ensembl chr15:44,442,555...44,442,875
Ensembl chr15:44,442,555...44,442,875
JBrowse link
G Gnrhr gonadotropin releasing hormone receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:15625238 NCBI chr14:23,480,462...23,498,450
Ensembl chr14:23,480,462...23,498,450
JBrowse link
G Hsd3b1 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 IEP mRNA:decreased expression:testis (rat) RGD PMID:17880366 RGD:4833436
G Il6 interleukin 6 ISO associated with Pancreatic Neoplasms RGD PMID:20221887 RGD:2317160 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Kiss1r KISS1 receptor ISO Hypogonadotropic hypogonadism, OMIM:146110 RGD PMID:12944565 RGD:1599279 NCBI chr 7:12,606,210...12,609,868
Ensembl chr 7:12,606,210...12,609,868
JBrowse link
G Lep leptin treatment IDA
ISO
CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:9500540, PMID:15070752, PMID:21790658 RGD:10053622 NCBI chr 4:56,337,695...56,351,818
Ensembl chr 4:56,337,695...56,351,818
JBrowse link
G Lepr leptin receptor ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hypergonadotropic hypogonadism
CTD
ClinVar
PMID:17229951, PMID:30311386 NCBI chr 5:120,503,475...120,682,281
Ensembl chr 5:120,564,645...120,682,221
JBrowse link
G Lhb luteinizing hormone subunit beta ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:1727547, PMID:8263139, PMID:15602022, PMID:18449926 NCBI chr 1:101,409,992...101,413,725
Ensembl chr 1:101,410,019...101,413,724
JBrowse link
G Lhcgr luteinizing hormone/choriogonadotropin receptor ISO ClinVar Annotator: match by term: Hypergonadotropic hypogonadism ClinVar PMID:25741868, PMID:25741869, 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
G Nr0b1 nuclear receptor subfamily 0, group B, member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:7990958 NCBI chr  X:54,734,385...54,738,513
Ensembl chr  X:54,734,385...54,738,513
JBrowse link
G Pcsk1 proprotein convertase subtilisin/kexin type 1 ISO RGD PMID:11874690 RGD:1357926 NCBI chr 2:91,450,162...91,497,091
Ensembl chr 2:91,450,162...91,497,091
JBrowse link
G Pold1 DNA polymerase delta 1, catalytic subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:23770608 NCBI chr 1:100,538,066...100,554,105
Ensembl chr 1:100,537,900...100,554,488
JBrowse link
G Prkg1 protein kinase cGMP-dependent 1 IEP mRNA, protein:decreased expression:Leydig cell RGD PMID:20463352 RGD:7775065 NCBI chr 1:248,982,039...250,300,952 JBrowse link
G Prl prolactin ISO CTD Direct Evidence: marker/mechanism CTD PMID:15829128 NCBI chr17:39,814,236...39,824,299
Ensembl chr17:39,814,244...39,824,299
JBrowse link
G Prop1 PROP paired-like homeobox 1 ISO DNA:point mutation:exon:W194X RGD PMID:15941866 RGD:1601504 NCBI chr10:36,449,920...36,452,381
Ensembl chr10:36,449,920...36,452,378
JBrowse link
G Slc29a3 solute carrier family 29 member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20140240 NCBI chr20:30,289,527...30,327,343
Ensembl chr20:30,287,424...30,327,361
JBrowse link
G Snrpe small nuclear ribonucleoprotein polypeptide E ISO DNA:missense mutation:cds:p.E51D (mouse) RGD PMID:22258617 RGD:10768832 NCBI chr13:50,252,707...50,258,951
Ensembl chr 8:129,371,556...129,371,973
JBrowse link
G Sohlh1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 ISO ClinVar Annotator: match by term: Nonsyndromic hypergonadotropic hypogonadism ClinVar PMID:17301727, PMID:25741868, PMID:25774885 NCBI chr 3:3,290,766...3,295,226
Ensembl chr 3:3,291,084...3,295,101
JBrowse link
G Star steroidogenic acute regulatory protein IEP mRNA:decreased expression:testis (rat) RGD PMID:17880366 RGD:4833436 NCBI chr16:71,036,204...71,040,847
Ensembl chr16:71,036,204...71,040,847
JBrowse link
G Tac3 tachykinin precursor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19079066 NCBI chr 7:71,023,976...71,030,582
Ensembl chr 7:71,023,976...71,030,582
JBrowse link
G Tacr3 tachykinin receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19079066 NCBI chr 2:240,021,152...240,118,971
Ensembl chr 2:240,021,152...240,118,971
JBrowse link
46 XX gonadal dysgenesis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fancl FA complementation group L ISS OMIM:233300 | OMIM:278850 | OMIM:300833 | OMIM:400045 | OMIM:611812 | OMIM:614324 MouseDO NCBI chr14:110,675,306...110,740,880
Ensembl chr14:110,676,090...110,740,317
JBrowse link
G Fshr follicle stimulating hormone receptor ISO DNA:point mutation:exon:A189V RGD PMID:7553856 RGD:1601232 NCBI chr 6:12,796,383...12,997,817
Ensembl chr 6:12,796,383...12,997,817
JBrowse link
G Mrps22 mitochondrial ribosomal protein S22 ISO ClinVar Annotator: match by term: 46,XX gonadal dysgenesis ClinVar PMID:29566152 NCBI chr 8:106,604,421...106,617,591
Ensembl chr 8:106,604,379...106,617,597
JBrowse link
G Nr5a1 nuclear receptor subfamily 5, group A, member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19246354 NCBI chr 3:22,998,900...23,020,441
Ensembl chr 3:22,999,616...23,020,441
JBrowse link
46,XX sex reversal 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sry sex determining region Y ISO ClinVar Annotator: match by term: 46,XX SEX REVERSAL, SRY-POSITIVE OMIM
ClinVar
PMID:25741868 NCBI chr  Y:327,176...327,685
Ensembl chr  Y:327,166...329,299
JBrowse link
46,XX sex reversal 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sox9 SRY-box transcription factor 9 ISO ClinVar Annotator: match by synonym: CHROMOSOME 17q24 DUPLICATION SYNDROME
ClinVar Annotator: match by term: CHROMOSOME 17q24 DUPLICATION SYNDROME
ClinVar
OMIM
PMID:21208124, PMID:22051515 NCBI chr10:101,288,528...101,294,030
Ensembl chr10:101,288,489...101,293,379
JBrowse link
46,XX sex reversal 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nr5a1 nuclear receptor subfamily 5, group A, member 1 ISO ClinVar Annotator: match by term: 46,XX sex reversal 4 OMIM
ClinVar
PMID:11932325, PMID:25741868, PMID:26523528, PMID:27378692, PMID:27490115, PMID:27610946, PMID:27855412 NCBI chr 3:22,998,900...23,020,441
Ensembl chr 3:22,999,616...23,020,441
JBrowse link
46,XX Sex Reversal 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nr2f2 nuclear receptor subfamily 2, group F, member 2 ISO ClinVar Annotator: match by term: 46,XX SEX REVERSAL 5 OMIM
ClinVar
PMID:27363585, PMID:29478779 NCBI chr 1:131,447,671...131,465,749
Ensembl chr 1:131,448,447...131,460,473
JBrowse link
46,XX Sex Reversal with Dysgenesis of Kidneys, Adrenals, and Lungs term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mrps22 mitochondrial ribosomal protein S22 ISO ClinVar Annotator: match by term: 46,XX gonadal dysgenesis ClinVar PMID:29566152 NCBI chr 8:106,604,421...106,617,591
Ensembl chr 8:106,604,379...106,617,597
JBrowse link
G Wnt4 Wnt family member 4 ISO ClinVar Annotator: match by term: Serkal syndrome
ClinVar Annotator: match by OMIM:611812
OMIM
ClinVar
PMID:18179883, PMID:25741868 NCBI chr 5:155,649,238...155,668,065
Ensembl chr 5:155,649,217...155,672,579
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:25927242 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: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
Alopecia, Hypogonadism, Extrapyramidal Disorder term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dcaf17 DDB1 and CUL4 associated factor 17 ISO ClinVar Annotator: match by term: Progressive extrapyramidal disorder with primary hypogonadism and alopecia ClinVar PMID:6876115, PMID:17710875, PMID:18049083, PMID:18175354, PMID:18414213, PMID:19026396, PMID:20507343, PMID:21044051, PMID:24015686, PMID:24088041, PMID:25326637, PMID:25741868, PMID:26612766, PMID:26633545, PMID:26664771, PMID:28492532, PMID:29546359 NCBI chr 3:57,646,799...57,678,802
Ensembl chr 3:57,646,811...57,673,418
JBrowse link
G Mettl8 methyltransferase like 8 ISO ClinVar Annotator: match by term: Progressive extrapyramidal disorder with primary hypogonadism and alopecia ClinVar PMID:17710875, PMID:19026396, PMID:26612766, PMID:28492532 NCBI chr 3:57,257,394...57,642,096 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
Borjeson-Forssman-Lehmann syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Phf6 PHD finger protein 6 ISO ClinVar Annotator: match by term: Borjeson-Forssman-Lehmann syndrome
ClinVar Annotator: match by OMIM:301900
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:12415272, PMID:13871358, PMID:15241480, PMID:15466013, PMID:15994862, PMID:18414213, PMID:23906836, PMID:24728327, PMID:25741868, PMID:25741869, PMID:27633282, PMID:28492532 NCBI chr  X:158,698,353...158,739,855
Ensembl chr  X:158,698,356...158,739,838
Ensembl chr  X:158,698,356...158,739,838
JBrowse link
Boucher-Neuhauser syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pnpla6 patatin-like phospholipase domain containing 6 ISO ClinVar Annotator: match by term: Ataxia-hypogonadism-choroidal dystrophy syndrome
ClinVar Annotator: match by term: Boucher Neuhauser syndrome
ClinVar Annotator: match by OMIM:215470
OMIM
ClinVar
PMID:9321767, PMID:24355708, PMID:25033069, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr12:2,068,749...2,098,139
Ensembl chr12:2,069,959...2,097,904
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
De Sanctis-Cacchione Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ercc6 ERCC excision repair 6, chromatin remodeling factor ISO ClinVar Annotator: match by term: DE SANCTIS-CACCHIONE SYNDROME
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:1372469, PMID:7063265, PMID:9443879, PMID:10196384, PMID:10767341, PMID:11809892, PMID:18414213, PMID:18628313, PMID:18784753, PMID:19894250, PMID:20122405, PMID:20456449, PMID:21143350, PMID:21228398, PMID:22661500, PMID:22904069, PMID:23311583, PMID:23422418, PMID:23428416, PMID:24154677, PMID:25136123, PMID:25326635, PMID:25356239, PMID:25463447, PMID:25741868, PMID:25820262, PMID:26204423, PMID:26206375, PMID:26218421, PMID:26620705, PMID:26749132, PMID:27004399, PMID:27186691, PMID:27356891, PMID:28170084, PMID:28440418, PMID:28492532, PMID:29203878, PMID:29572252, PMID:29915382, PMID:30311386 NCBI chr16:8,734,028...8,804,610
Ensembl chr16:8,734,035...8,804,610
JBrowse link
dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
ClinVar Annotator: match by term: Malouf syndrome
ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, WITH PREMATURE OVARIAN FAILURE
ClinVar Annotator: match by OMIM:212112
OMIM
ClinVar
PMID:2007407, PMID:10587585, PMID:10612827, PMID:10655060, PMID:10739751, PMID:10810087, PMID:10868844, PMID:10999791, PMID:10999845, PMID:11015599, PMID:11078466, PMID:11136544, PMID:11792809, PMID:12927424, PMID:12927431, PMID:16181372, PMID:16364671, PMID:16415042, PMID:17150192, PMID:18414213, PMID:18728124, PMID:19011997, PMID:19201734, PMID:19283854, PMID:19418082, PMID:19427440, PMID:19859838, PMID:20130076, PMID:20625965, PMID:20709679, PMID:22224630, PMID:22266370, PMID:22464770, PMID:22700598, PMID:23183350, PMID:23313286, PMID:23427149, PMID:23853504, PMID:23977161, PMID:24033266, PMID:24503780, PMID:24623722, PMID:24846508, PMID:25741868, PMID:26662654, PMID:27532257, PMID:27585670, PMID:27723096, PMID:28492532, PMID:28663758, PMID:28679633, PMID:29149195, PMID:29237675, PMID:30165862, PMID:30311386, PMID:31383942 NCBI chr 2:187,842,884...187,863,552
Ensembl chr 2:187,842,885...187,863,516
JBrowse link
gonadal dysgenesis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cbx2 chromobox 2 no_association ISO RGD PMID:23219007 RGD:9586730 NCBI chr10:108,132,105...108,140,935
Ensembl chr10:108,132,105...108,140,935
JBrowse link
G Fmr1 FMRP translational regulator 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22043169 NCBI chr  X:154,684,924...154,722,369
Ensembl chr  X:154,684,935...154,722,314
JBrowse link
G Nr5a1 nuclear receptor subfamily 5, group A, member 1 treatment IMP RGD PMID:16467257 RGD:12904919 NCBI chr 3:22,998,900...23,020,441
Ensembl chr 3:22,999,616...23,020,441
JBrowse link
G Tspyl1 TSPY-like 1 ISO sudden infant death with dysgenesis of the testes syndrome (SIDDT), OMIM:608800 RGD PMID:15273283 RGD:1599672 NCBI chr20:41,083,317...41,085,876
Ensembl chr20:41,083,317...41,085,875
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
Gonadal Dysgenesis, XX Type, with Deafness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hsd17b4 hydroxysteroid (17-beta) dehydrogenase 4 ISO ClinVar Annotator: match by term: Bifunctional peroxisomal enzyme deficiency
ClinVar Annotator: match by term: Perrault syndrome 1
ClinVar Annotator: match by term: OVARIAN DYSGENESIS WITH SENSORINEURAL DEAFNESS
ClinVar Annotator: match by term: Perrault Syndrome
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:2868085, PMID:2882519, PMID:2921319, PMID:4061497, PMID:8279468, PMID:9345094, PMID:9482850, PMID:9915948, PMID:10400999, PMID:10419023, PMID:10497229, PMID:10671535, PMID:10748062, PMID:11330053, PMID:11743515, PMID:11810648, PMID:11992265, PMID:12562856, PMID:15216544, PMID:16385454, PMID:20673864, PMID:22507161, PMID:22864515, PMID:23100014, PMID:23181892, PMID:23308274, PMID:23332201, PMID:24033266, PMID:24108619, PMID:24553428, PMID:25526675, PMID:25741868, PMID:25882080, PMID:25967389, PMID:26467025, PMID:26970254, PMID:27243974, PMID:27290639, PMID:27528516, PMID:27790638, PMID:28017249, PMID:28492532, PMID:28649525, PMID:28830375, PMID:30311386 NCBI chr18:44,810,462...44,897,677
Ensembl chr18:44,810,388...44,897,640
JBrowse link
G Prorp protein only RNase P catalytic subunit ISO ClinVar Annotator: match by term: Perrault syndrome 1 ClinVar NCBI chr 6:76,079,880...76,171,298
Ensembl chr 6:76,079,880...76,171,296
JBrowse link
Gordon Holmes syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rnf216 ring finger protein 216 ISO ClinVar Annotator: match by term: Gordon Holmes syndrome
ClinVar Annotator: match by OMIM:212840
OMIM
ClinVar
PMID:11932290, PMID:23656588, PMID:25741868, PMID:25841028 NCBI chr12:13,508,429...13,631,689
Ensembl chr12:13,508,429...13,632,304
JBrowse link
hypogonadotropic hypogonadism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nr5a1 nuclear receptor subfamily 5, group A, member 1 ISS MouseDO NCBI chr 3:22,998,900...23,020,441
Ensembl chr 3:22,999,616...23,020,441
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:11297579, PMID:12050219, PMID:12727945, PMID:15605412, PMID:16882753, PMID:17054399, PMID:21681106, PMID:21717404, PMID:22035731, PMID:23100014, PMID:23410897, PMID:23533228, PMID:23643382, PMID:23849776, 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 10 with or without anosmia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tac3 tachykinin precursor 3 ISO ClinVar Annotator: match by term: HYPOGONADOTROPIC HYPOGONADISM 10 WITHOUT ANOSMIA
ClinVar Annotator: match by OMIM:614839
OMIM
ClinVar
PMID:19079066, PMID:20332248 NCBI chr 7:71,023,976...71,030,582
Ensembl chr 7:71,023,976...71,030,582
JBrowse link
hypogonadotropic hypogonadism 11 with or without anosmia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tacr3 tachykinin receptor 3 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 11 with or without anosmia
ClinVar Annotator: match by OMIM:614840
OMIM
ClinVar
PMID:18422838, PMID:19079066, PMID:20332248, PMID:21300340, PMID:22031817, PMID:22035731, PMID:23329188, PMID:25741868, PMID:26467025, PMID:28492532, PMID:30311386 NCBI chr 2:240,021,152...240,118,971
Ensembl chr 2:240,021,152...240,118,971
JBrowse link
hypogonadotropic hypogonadism 12 with or without anosmia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gnrh1 gonadotropin releasing hormone 1 ISO DNA:missense mutation:cds:p.R31C (human)
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 12 with or without anosmia
ClinVar Annotator: match by term: Isolated GnRH Deficiency
DNA:frameshift mutation, nonsense mutation, missense mutations:multiple (human)
DNA:frameshift mutation:cds:c.18-19insA (human)
ClinVar
OMIM
PMID:19535795, PMID:19567835, PMID:26467025, PMID:28492532, PMID:23936060, PMID:19567835, PMID:19535795 RGD:9685133, RGD:9685137, RGD:9685134 NCBI chr15:44,441,856...44,446,064
Ensembl chr15:44,442,555...44,442,875
Ensembl chr15:44,442,555...44,442,875
JBrowse link
G Gnrhr gonadotropin releasing hormone receptor ISO ClinVar Annotator: match by term: Isolated GnRH Deficiency ClinVar PMID:9371856, PMID:11397871, PMID:12364481, PMID:12606630, PMID:15240592, PMID:15728205, PMID:16213849, PMID:17161329, PMID:20389088, PMID:20696889, PMID:22745237, PMID:22766261, PMID:23295295, PMID:23341491, PMID:23643382, PMID:25016926 NCBI chr14:23,480,462...23,498,450
Ensembl chr14:23,480,462...23,498,450
JBrowse link
G Kctd9 potassium channel tetramerization domain containing 9 ISO ClinVar Annotator: match by term: Isolated GnRH Deficiency ClinVar NCBI chr15:44,411,591...44,439,645
Ensembl chr15:44,411,865...44,439,236
JBrowse link
G Tacr3 tachykinin receptor 3 ISO ClinVar Annotator: match by term: Isolated GnRH Deficiency ClinVar NCBI chr 2:240,021,152...240,118,971
Ensembl chr 2:240,021,152...240,118,971
JBrowse link
hypogonadotropic hypogonadism 13 with or without anosmia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kiss1 KiSS-1 metastasis-suppressor ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 13 with or without anosmia
ClinVar Annotator: match by OMIM:614842
OMIM
ClinVar
PMID:22335740, PMID:28492532 NCBI chr13:50,529,506...50,537,603
Ensembl chr13:50,529,510...50,535,389
JBrowse link
hypogonadotropic hypogonadism 14 with or without anosmia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wdr11 WD repeat domain 11 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 14 with or without anosmia
ClinVar Annotator: match by OMIM:614858
OMIM
ClinVar
PMID:20887964, PMID:28492532 NCBI chr 1:202,770,810...202,816,336
Ensembl chr 1:202,770,775...202,816,334
JBrowse link
hypogonadotropic hypogonadism 15 with or without anosmia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hs6st1 heparan sulfate 6-O-sulfotransferase 1 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 15 with anosmia OMIM
ClinVar
PMID:6881209, PMID:21700882, PMID:23643382 NCBI chr 9:42,620,006...42,659,184
Ensembl chr 9:42,620,006...42,659,184
JBrowse link
hypogonadotropic hypogonadism 16 with or without anosmia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sema3a semaphorin 3A ISO ClinVar Annotator: match by OMIM:614897
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 16 with or without anosmia
ClinVar
OMIM
PMID:22416012, PMID:22927827, PMID:24033266, PMID:28492532 NCBI chr 4:18,170,375...18,545,190
Ensembl chr 4:18,178,656...18,396,035
JBrowse link
hypogonadotropic hypogonadism 17 with or without anosmia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Spry4 sprouty RTK signaling antagonist 4 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 17 with or without anosmia
ClinVar Annotator: match by OMIM:615266
OMIM
ClinVar
PMID:23643382, PMID:24033266, PMID:28492532 NCBI chr18:32,593,370...32,609,890
Ensembl chr18:32,594,958...32,609,864
JBrowse link
hypogonadotropic hypogonadism 18 with or without anosmia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il17rd interleukin 17 receptor D ISO ClinVar Annotator: match by term: HYPOGONADOTROPIC HYPOGONADISM 18 WITH ANOSMIA OMIM
ClinVar
PMID:23643382, PMID:25636053 NCBI chr16:2,670,471...2,737,271
Ensembl chr16:2,670,618...2,731,808
JBrowse link
hypogonadotropic hypogonadism 19 with or without anosmia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dusp6 dual specificity phosphatase 6 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 19 with or without anosmia
ClinVar Annotator: match by OMIM:615269
OMIM
ClinVar
PMID:23643382, PMID:30311386 NCBI chr 7:41,475,163...41,479,393
Ensembl chr 7:41,475,163...41,479,392
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 20 with or without anosmia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgf17 fibroblast growth factor 17 ISO ClinVar Annotator: match by OMIM:615270 OMIM
ClinVar
PMID:6881209, PMID:21700882, PMID:23643382 NCBI chr15:52,326,758...52,337,360
Ensembl chr15:52,326,778...52,332,097
JBrowse link
hypogonadotropic hypogonadism 21 with or without anosmia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Flrt3 fibronectin leucine rich transmembrane protein 3 ISO ClinVar Annotator: match by OMIM:615271 OMIM
ClinVar
PMID:23643382 NCBI chr 3:134,684,446...134,696,586
Ensembl chr 3:134,683,065...134,696,654
JBrowse link
G Macrod2 mono-ADP ribosylhydrolase 2 ISO ClinVar Annotator: match by This custom term has been created by RGD curators. ClinVar PMID:23643382 NCBI chr 3:135,729,839...136,422,082 JBrowse link
hypogonadotropic hypogonadism 22 with or without anosmia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fezf1 Fez family zinc finger 1 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 22 with anosmia ClinVar
OMIM
PMID:25192046 NCBI chr 4:50,309,281...50,312,608
Ensembl chr 4:50,309,281...50,312,608
JBrowse link
hypogonadotropic hypogonadism 23 with or without anosmia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lhb luteinizing hormone subunit beta ISO ClinVar Annotator: match by term: PASQUALINI SYNDROME
ClinVar Annotator: match by OMIM:228300
OMIM
ClinVar
PMID:429481, PMID:1727547, PMID:15602022, PMID:17761593, PMID:19126631, PMID:19890128, PMID:22723313, PMID:25741868 NCBI chr 1:101,409,992...101,413,725
Ensembl chr 1:101,410,019...101,413,724
JBrowse link
hypogonadotropic hypogonadism 24 without anosmia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fshb follicle stimulating hormone subunit beta ISO ClinVar Annotator: match by term: isolated follicle-stimulating hormone deficiency
ClinVar Annotator: match by term: Follicle-stimulating hormone deficiency, isolated
ClinVar Annotator: match by OMIM:229070
OMIM
ClinVar
PMID:4344039, PMID:8220432, PMID:9271483, PMID:9280841, PMID:9624193, PMID:9806482, PMID:12161499, PMID:20488225, PMID:22791757, PMID:25052309, PMID:25741868, PMID:28392474, PMID:28492532 NCBI chr 3:98,088,321...98,092,131
Ensembl chr 3:98,088,324...98,092,131
JBrowse link
Hypogonadotropic Hypogonadism 25 with Anosmia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ndnf neuron-derived neurotrophic factor ISO ClinVar Annotator: match by term: HYPOGONADOTROPIC HYPOGONADISM 25 WITH ANOSMIA OMIM
ClinVar
PMID:31883645 NCBI chr 4:96,528,830...96,565,780 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 5 with or without anosmia 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: Hypogonadotropic hypogonadism 5 with or without anosmia
ClinVar Annotator: match by term: HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA
OMIM
ClinVar
PMID:15300250, PMID:16155193, PMID:16400610, PMID:16615981, PMID:16763960, PMID:18073582, PMID:18074359, PMID:18414213, PMID:18445044, PMID:18834967, PMID:21158681, PMID:21931733, PMID:21995344, PMID:22033296, PMID:22461308, PMID:22539353, PMID:23378218, PMID:23533228, PMID:24033266, PMID:24862881, PMID:25077900, PMID:25107291, PMID:25472840, PMID:25741868, PMID:25931334, PMID:25996639, PMID:26467025, PMID:26929907, PMID:27884173, PMID:27899157, PMID:28475860, PMID:28492532, PMID:29255181, PMID:29255276, PMID:30311386, PMID:31042289 NCBI chr 5:21,769,087...21,952,036
Ensembl chr 5:21,830,882...21,950,696
JBrowse link
hypogonadotropic hypogonadism 6 with or without anosmia 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: Hypogonadotropic hypogonadism 6 with or without anosmia OMIM
ClinVar
PMID:18596921, PMID:20463092, PMID:21045958, PMID:23533228, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 1:265,492,949...265,498,965
Ensembl chr 1:265,493,124...265,498,831
JBrowse link
hypogonadotropic hypogonadism 7 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 7 with or without anosmia ClinVar PMID:25636053 Ensembl chr10:70,999,780...71,000,627 JBrowse link
G Atm ATM serine/threonine kinase ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia ClinVar PMID:9887333, PMID:10330348, PMID:10817650, PMID:10980530, PMID:12810666, PMID:15390180, PMID:16266405, PMID:20153123, PMID:22585167, PMID:25614872, PMID:25741868, PMID:26506520, PMID:27159176, PMID:28492532, PMID:30311386 NCBI chr 8:58,015,938...58,119,973
Ensembl chr 8:58,015,940...58,120,045
JBrowse link
G Axl Axl receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:82,550,892...82,580,761
Ensembl chr 1:82,549,420...82,580,761
JBrowse link
G Bbip1 BBSome interacting protein 1 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia ClinVar NCBI chr 1:274,649,085...274,663,544
Ensembl chr 1:274,649,490...274,650,363
JBrowse link
G Ccdc141 coiled-coil domain containing 141 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia
CTD
ClinVar
PMID:28492532 NCBI chr 3:63,865,240...64,024,208
Ensembl chr 3:63,863,951...64,024,205
JBrowse link
G Dusp6 dual specificity phosphatase 6 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:41,475,163...41,479,393
Ensembl chr 7:41,475,163...41,479,392
JBrowse link
G Fezf1 Fez family zinc finger 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:50,309,281...50,312,608
Ensembl chr 4:50,309,281...50,312,608
JBrowse link
G Fgf17 fibroblast growth factor 17 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr15:52,326,758...52,337,360
Ensembl chr15:52,326,778...52,332,097
JBrowse link
G Fgfr1 Fibroblast growth factor receptor 1 ISO DNA:missense mutations, nonsense mutation:exon:multiple
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia
DNA:missense mutations:exon:p.L342S (c.1025T>C), p.R470L (c.1409G>T) (human)
DNA:nonsense mutation:exon:pR622X (1864C>T) (human)
DNA:deletion:intron:c.2049-1G>C (human)
ClinVar PMID:12627230, PMID:16882753, PMID:17200176, PMID:25636053, PMID:25741868, PMID:30311386, PMID:16606836, PMID:17235395, PMID:17200176, PMID:20079901 RGD:11567242, RGD:11567265, RGD:11567246, RGD:11567244 NCBI chr16:71,265,390...71,319,046
Ensembl chr16:71,266,248...71,319,449
JBrowse link
G Gnrh1 gonadotropin releasing hormone 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19535795 NCBI chr15:44,441,856...44,446,064
Ensembl chr15:44,442,555...44,442,875
Ensembl chr15:44,442,555...44,442,875
JBrowse link
G Gnrhr gonadotropin releasing hormone receptor ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia
ClinVar Annotator: match by OMIM:146110
DNA:missense mutations: :p.Q106R, p.R262Q (human)
OMIM
ClinVar
PMID:9371856, PMID:9425890, PMID:10022417, PMID:10084584, PMID:10523035, PMID:10690855, PMID:10772899, PMID:10999776, PMID:11318785, PMID:11397842, PMID:11397871, PMID:11994356, PMID:12050282, PMID:12057744, PMID:12364481, PMID:12568864, PMID:12574221, PMID:12606630, PMID:12679486, PMID:15240592, PMID:15728205, PMID:16213849, PMID:16359986, PMID:16968799, PMID:17235395, PMID:20389088, PMID:20696889, PMID:21645587, PMID:21736917, PMID:22405597, PMID:22679506, PMID:22724017, PMID:22745237, PMID:22766261, PMID:23155690, PMID:23295295, PMID:23341491, PMID:23643382, PMID:24033266, PMID:24732674, PMID:25016926, PMID:25636053, PMID:25741868, PMID:26207952, PMID:26467025, PMID:27884859, PMID:28492532, PMID:28611058, PMID:29182666, PMID:30311386, PMID:17235395 RGD:11567265 NCBI chr14:23,480,462...23,498,450
Ensembl chr14:23,480,462...23,498,450
JBrowse link
G Hs6st1 heparan sulfate 6-O-sulfotransferase 1 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia ClinVar PMID:24033266, PMID:25636053, PMID:28492532 NCBI chr 9:42,620,006...42,659,184
Ensembl chr 9:42,620,006...42,659,184
JBrowse link
G Nsmf NMDA receptor synaptonuclear signaling and neuronal migration factor ISO DNA:deletion:intron:c.1159-14_-22del (human) RGD PMID:17235395 RGD:11567265 NCBI chr 3:2,262,173...2,270,996
Ensembl chr 3:2,262,253...2,270,995
JBrowse link
G Pnpla6 patatin-like phospholipase domain containing 6 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia ClinVar PMID:25741868 NCBI chr12:2,068,749...2,098,139
Ensembl chr12:2,069,959...2,097,904
JBrowse link
G Polr3b RNA polymerase III subunit B ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia ClinVar PMID:22036172, PMID:23355746, PMID:25133958, PMID:25339210, PMID:25741868, PMID:26204956, PMID:27512013, PMID:30311386 NCBI chr 7:24,745,051...24,851,227
Ensembl chr 7:24,745,051...24,851,227
JBrowse link
G Prokr2 prokineticin receptor 2 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia ClinVar PMID:25636053 NCBI chr 3:125,006,180...125,021,020
Ensembl chr 3:125,009,260...125,017,377
JBrowse link
G RGD1311251 similar to RIKEN cDNA 4930550C14 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia ClinVar PMID:9887333, PMID:10330348, PMID:10817650, PMID:10980530, PMID:12810666, PMID:15390180, PMID:16266405, PMID:20153123, PMID:22585167, PMID:25614872, PMID:25741868, PMID:26506520, PMID:27159176, PMID:28492532, PMID:30311386 NCBI chr 8:57,983,168...58,012,474
Ensembl chr 8:57,983,556...58,011,962
JBrowse link
G Rnf216 ring finger protein 216 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia ClinVar PMID:25558065 NCBI chr12:13,508,429...13,631,689
Ensembl chr12:13,508,429...13,632,304
JBrowse link
G Sema3e semaphorin 3E ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:17,314,745...17,594,659
Ensembl chr 4:17,272,511...17,594,598
JBrowse link
G Spry4 sprouty RTK signaling antagonist 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr18:32,593,370...32,609,890
Ensembl chr18:32,594,958...32,609,864
JBrowse link
G Sra1 steroid receptor RNA activator 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr18:29,494,004...29,497,232
Ensembl chr18:29,494,014...29,497,410
JBrowse link
G Tac3 tachykinin precursor 3 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia ClinVar PMID:25636053 NCBI chr 7:71,023,976...71,030,582
Ensembl chr 7:71,023,976...71,030,582
JBrowse link
G Tacr3 tachykinin receptor 3 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia ClinVar PMID:25636053 NCBI chr 2:240,021,152...240,118,971
Ensembl chr 2:240,021,152...240,118,971
JBrowse link
G Wdr11 WD repeat domain 11 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia
CTD
ClinVar
PMID:30311386 NCBI chr 1:202,770,810...202,816,336
Ensembl chr 1:202,770,775...202,816,334
JBrowse link
hypogonadotropic hypogonadism 8 with or without anosmia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kiss1r KISS1 receptor ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 8 without anosmia
ClinVar Annotator: match by OMIM:614837
OMIM
ClinVar
PMID:12788881, PMID:12944565, PMID:17164310, PMID:18772143, PMID:23349759, PMID:23643382, PMID:30311386 NCBI chr 7:12,606,210...12,609,868
Ensembl chr 7:12,606,210...12,609,868
JBrowse link
hypogonadotropic hypogonadism 9 with or without anosmia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nsmf NMDA receptor synaptonuclear signaling and neuronal migration factor ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 9 with or without anosmia
ClinVar Annotator: match by This custom term has been created by RGD curators.
ClinVar Annotator: match by OMIM:614838
OMIM
ClinVar
PMID:15362570, PMID:17235395, PMID:21700882, PMID:25741868 NCBI chr 3:2,262,173...2,270,996
Ensembl chr 3:2,262,253...2,270,995
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
hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hcn1 hyperpolarization-activated cyclic nucleotide-gated potassium channel 1 ISO ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 7 ClinVar PMID:25741868 NCBI chr 2:50,099,576...50,499,799
Ensembl chr 2:50,099,576...50,499,799
JBrowse link
G Polr3a RNA polymerase III subunit A ISO ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 7
ClinVar Annotator: match by term: Dentoleukoencephalopathy
ClinVar Annotator: match by term: Pol III-related leukodystrophy
ClinVar Annotator: match by term: Leukodystrophy with oligodontia
ClinVar Annotator: match by OMIM:607694
OMIM
ClinVar
PMID:614258, PMID:12605447, PMID:17159124, PMID:20640464, PMID:21855841, PMID:22036171, PMID:25339210, PMID:25741868, PMID:26096995, PMID:26752647, PMID:27029625, PMID:27521716, PMID:27535217, PMID:28459997, PMID:28492532, PMID:30414627, PMID:30847471, PMID:31637490, PMID:32214227, PMID:32860008 NCBI chr16:717,821...756,002
Ensembl chr16:716,683...755,990
JBrowse link
G Polr3b RNA polymerase III subunit B ISO ClinVar Annotator: match by term: Pol III-related leukodystrophy
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:22036172, PMID:23355746, PMID:25339210, PMID:25741868, PMID:26204956 NCBI chr 7:24,745,051...24,851,227
Ensembl chr 7:24,745,051...24,851,227
JBrowse link
G Rps24 ribosomal protein S24 ISO ClinVar Annotator: match by term: Pol III-related leukodystrophy
ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 7
ClinVar PMID:25741868, PMID:27029625 NCBI chr16:757,390...762,091
Ensembl chr16:757,403...762,075
JBrowse link
Isolated Mineralocorticoid Deficiency 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: Mineralocorticoid deficiency, isolated ClinVar PMID:17164309 NCBI chr  X:54,734,385...54,738,513
Ensembl chr  X:54,734,385...54,738,513
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
Martsolf syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rab3gap1 RAB3 GTPase activating protein catalytic subunit 1 ISO ClinVar Annotator: match by term: Martsolf syndrome ClinVar PMID:23420520, PMID:29300443 NCBI chr13:44,578,208...44,649,876
Ensembl chr13:44,615,553...44,648,620
JBrowse link
G Rab3gap2 RAB3 GTPase activating non-catalytic protein subunit 2 ISO ClinVar Annotator: match by term: Cataract-intellectual disability-hypogonadism syndrome
ClinVar Annotator: match by term: Martsolf syndrome
ClinVar Annotator: match by OMIM:212720
OMIM
ClinVar
PMID:16532399, PMID:18414213, PMID:23420520, PMID:24891604, PMID:25741868, PMID:27989324, PMID:28492532, PMID:29300443 NCBI chr13:103,157,806...103,229,010
Ensembl chr13:103,157,806...103,228,423
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
MEHMO syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eif2s3 eukaryotic translation initiation factor 2 subunit gamma ISO ClinVar Annotator: match by term: Mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity
ClinVar Annotator: match by term: MEHMO syndrome
ClinVar
OMIM
PMID:23063529, PMID:25741868, PMID:25741869, PMID:27333055, PMID:28055140 NCBI chr  X:63,268,106...63,291,125
Ensembl chr  X:63,268,037...63,292,092
JBrowse link
Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atrx ATRX, chromatin remodeler ISO ClinVar Annotator: match by term: Mental retardation-hypotonic facies syndrome X-linked, 1
ClinVar Annotator: match by term: Holmes-Gang syndrome
ClinVar Annotator: match by term: Mental retardation-hypotonic facies syndrome, X-linked
ClinVar Annotator: match by term: ATRX-Related Disorder
DNA:mutation:exon:c. 6740A>C (p.H224P)(human)
ClinVar Annotator: match by OMIM:309580
DNA:nonsense mutation:exon:324C>T (p.R37X) (human)
DNA:missense mutation:exon:c.3868G>A (p.R1272Q) (human)
OMIM
ClinVar
PMID:1415255, PMID:1684092, PMID:3239563, PMID:6682021, PMID:6711605, PMID:8630485, PMID:8968741, PMID:9043863, PMID:9244431, PMID:9326931, PMID:10398234, PMID:10398237, PMID:10417298, PMID:10570185, PMID:10602370, PMID:10632111, PMID:10751095, PMID:10995512, PMID:11015451, PMID:11050622, PMID:12032728, PMID:12116232, PMID:12673795, PMID:12858175, PMID:15508018, PMID:15565397, PMID:15591283, PMID:16118346, PMID:16222662, PMID:16722615, PMID:16813605, PMID:16955409, PMID:18409179, PMID:18414213, PMID:19005673, PMID:20500465, PMID:21653732, PMID:24289169, PMID:24327140, PMID:24805811, PMID:25167861, PMID:25326635, PMID:25326637, PMID:25741868, PMID:28371197, PMID:28371217, PMID:28492532, PMID:26997013, PMID:10632111, PMID:8630485 RGD:13442490, RGD:11040909, RGD:1599406 NCBI chr  X:76,820,110...76,979,155
Ensembl chr  X:76,692,970...76,708,878
Ensembl chr  X:76,692,970...76,708,878
JBrowse link
Moyamoya Disease 4 with Short Stature, Hypergonadotropic Hypogonadism, and Facial Dysmorphism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcap31 B-cell receptor-associated protein 31 ISO ClinVar Annotator: match by term: Chromosome Xq28 deletion syndrome ClinVar PMID:24011989, PMID:25741868 NCBI chr  X:157,094,365...157,126,397
Ensembl chr  X:157,095,937...157,126,393
JBrowse link
G Slc6a8 solute carrier family 6 member 8 ISO ClinVar Annotator: match by term: Chromosome Xq28 deletion syndrome ClinVar PMID:24011989 NCBI chr  X:157,129,987...157,139,321
Ensembl chr  X:157,129,987...157,139,291
JBrowse link
Ovarian Dysgenesis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fshr follicle stimulating hormone receptor ISO ClinVar Annotator: match by term: Ovarian Dysgenesis ClinVar NCBI chr 6:12,796,383...12,997,817
Ensembl chr 6:12,796,383...12,997,817
JBrowse link
ovarian dysgenesis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fshr follicle stimulating hormone receptor ISO ClinVar Annotator: match by term: Ovarian dysgenesis 1
ClinVar Annotator: match by OMIM:233300
OMIM
ClinVar
PMID:7553856, PMID:8178824, PMID:9020851, PMID:9769327, PMID:9851774, PMID:10022448, PMID:10551778, PMID:11036902, PMID:11213123, PMID:11754099, PMID:11889179, PMID:12571157, PMID:12915623, PMID:15249125, PMID:15579795, PMID:15886248, PMID:16084888, PMID:16864747, PMID:17826728, PMID:18159088, PMID:19172541, PMID:19400992, PMID:20087398, PMID:20237833, PMID:21752882, PMID:22401810, PMID:23419799, PMID:25741868, PMID:28492532 NCBI chr 6:12,796,383...12,997,817
Ensembl chr 6:12,796,383...12,997,817
JBrowse link
ovarian dysgenesis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmp15 bone morphogenetic protein 15 ISO ClinVar Annotator: match by term: Ovarian dysgenesis 2
ClinVar Annotator: match by term: Premature ovarian failure 4
ClinVar Annotator: match by synonym: Premature ovarian failure 4
OMIM
ClinVar
PMID:15136966, PMID:16464940, PMID:16508750, PMID:16645022, PMID:18614612, PMID:19263482, PMID:20364024, PMID:20547206, PMID:25741868, PMID:28492532, PMID:31957178 NCBI chr  X:17,016,831...17,021,894
Ensembl chr  X:17,016,778...17,023,418
JBrowse link
ovarian dysgenesis 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mlx MAX dimerization protein MLX ISO ClinVar Annotator: match by term: Ovarian dysgenesis 3 ClinVar PMID:31042289 NCBI chr10:88,997,011...89,002,154
Ensembl chr10:88,997,399...89,002,152
JBrowse link
G Nrxn1 neurexin 1 ISO ClinVar Annotator: match by term: Ovarian dysgenesis 3 ClinVar NCBI chr 6:13,886,757...15,191,660
Ensembl chr 6:13,886,740...15,191,660
JBrowse link
G Psmc3ip PSMC3 interacting protein ISO ClinVar Annotator: match by term: Ovarian dysgenesis 3 OMIM
ClinVar
PMID:31042289 NCBI chr10:89,002,109...89,006,075
Ensembl chr10:89,002,116...89,005,213
JBrowse link
ovarian dysgenesis 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mcm9 minichromosome maintenance 9 homologous recombination repair factor ISO ClinVar Annotator: match by term: Ovarian dysgenesis 4 OMIM
ClinVar
PMID:25480036, PMID:26771056, PMID:31042289 NCBI chr20:34,818,093...34,930,157
Ensembl chr20:34,846,804...34,929,965
JBrowse link
ovarian dysgenesis 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sohlh1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 ISO ClinVar Annotator: match by term: OVARIAN DYSGENESIS 5 ClinVar
OMIM
PMID:17301727, PMID:25741868, PMID:25774885 NCBI chr 3:3,290,766...3,295,226
Ensembl chr 3:3,291,084...3,295,101
JBrowse link
ovarian dysgenesis 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nup107 nucleoporin 107 ISO ClinVar Annotator: match by term: OVARIAN DYSGENESIS 6 ClinVar
OMIM
PMID:26485283 NCBI chr 7:60,781,724...60,825,225
Ensembl chr 7:60,781,729...60,825,242
JBrowse link
ovarian dysgenesis 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mrps22 mitochondrial ribosomal protein S22 ISO ClinVar Annotator: match by term: OVARIAN DYSGENESIS 7 ClinVar
OMIM
PMID:29566152, PMID:31042289 NCBI chr 8:106,604,421...106,617,591
Ensembl chr 8:106,604,379...106,617,597
JBrowse link
ovarian dysgenesis 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Esr2 estrogen receptor 2 ISO ClinVar Annotator: match by term: OVARIAN DYSGENESIS 8 ClinVar
OMIM
PMID:30113650 NCBI chr 6:99,163,953...99,214,711
Ensembl chr 6:99,164,357...99,214,251
JBrowse link
Palmoplantar Hyperkeratosis and True Hermaphroditism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rspo1 R-spondin 1 ISO ClinVar Annotator: match by null ClinVar PMID:18085567 NCBI chr 5:142,986,526...143,007,847
Ensembl chr 5:142,986,526...143,007,831
JBrowse link
Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and Sex Reversal term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rspo1 R-spondin 1 ISO ClinVar Annotator: match by term: Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,XX sex reversal ClinVar
OMIM
PMID:16158431, PMID:17041600 NCBI chr 5:142,986,526...143,007,847
Ensembl chr 5:142,986,526...143,007,831
JBrowse link
Perrault syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clpp caseinolytic mitochondrial matrix peptidase proteolytic subunit ISS OMIM:233400 | OMIM:614129 | OMIM:614926 | OMIM:615300 MouseDO NCBI chr 9:10,048,715...10,056,068
Ensembl chr 9:10,048,886...10,054,359
JBrowse link
G Hars2 histidyl-tRNA synthetase 2, mitochondrial ISS OMIM:233400 | OMIM:614129 | OMIM:614926 | OMIM:615300 MouseDO NCBI chr18:29,629,203...29,638,460
Ensembl chr18:29,629,184...29,638,721
JBrowse link
G Hsd17b4 hydroxysteroid (17-beta) dehydrogenase 4 ISO
ISS
ClinVar Annotator: match by term: Perrault Syndrome
ClinVar Annotator: match by term: Perrault syndrome
OMIM:233400 | OMIM:614129 | OMIM:614926 | OMIM:615300
ClinVar
MouseDO
PMID:9482850, PMID:9915948, PMID:10419023, PMID:10497229, PMID:16385454, PMID:25741868, PMID:25967389, PMID:26970254, PMID:27290639, PMID:28492532, PMID:30311386 NCBI chr18:44,810,462...44,897,677
Ensembl chr18:44,810,388...44,897,640
JBrowse link
G Lars2 leucyl-tRNA synthetase 2, mitochondrial ISS
ISO
OMIM:233400 | OMIM:614129 | OMIM:614926 | OMIM:615300
ClinVar Annotator: match by term: Perrault syndrome
MouseDO
ClinVar
PMID:23541342, PMID:24033266, PMID:25741868, PMID:26537577, PMID:26970254 NCBI chr 8:132,441,277...132,537,176
Ensembl chr 8:132,441,285...132,536,369
JBrowse link
Perrault Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hars2 histidyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Perrault syndrome 2
ClinVar Annotator: match by OMIM:614926
OMIM
ClinVar
PMID:517579, PMID:21464306, PMID:24033266, PMID:25741868 NCBI chr18:29,629,203...29,638,460
Ensembl chr18:29,629,184...29,638,721
JBrowse link
Perrault Syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clpp caseinolytic mitochondrial matrix peptidase proteolytic subunit ISO ClinVar Annotator: match by term: Perrault syndrome 3
ClinVar Annotator: match by OMIM:614129
OMIM
ClinVar
PMID:17690910, PMID:21660509, PMID:22037954, PMID:23541340, PMID:24824130, PMID:25741868, PMID:27087618 NCBI chr 9:10,048,715...10,056,068
Ensembl chr 9:10,048,886...10,054,359
JBrowse link
Perrault Syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lars2 leucyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Perrault syndrome 4
ClinVar Annotator: match by OMIM:615300
OMIM
ClinVar
PMID:23541342, PMID:24033266, PMID:25741868, PMID:26467025, PMID:26537577, PMID:26657938, PMID:26970254, PMID:28492532, PMID:28708303, PMID:30311386 NCBI chr 8:132,441,277...132,537,176
Ensembl chr 8:132,441,285...132,536,369
JBrowse link
Perrault syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Twnk twinkle mtDNA helicase ISO ClinVar Annotator: match by term: Perrault syndrome 5
ClinVar Annotator: match by OMIM:616138
OMIM
ClinVar
PMID:25355836, PMID:25741868 NCBI chr 1:264,756,060...264,762,892
Ensembl chr 1:264,756,499...264,762,892
JBrowse link
Perrault syndrome 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eral1 Era-like 12S mitochondrial rRNA chaperone 1 ISO ClinVar Annotator: match by term: PERRAULT SYNDROME 6 ClinVar
OMIM
PMID:28449065 NCBI chr10:65,272,849...65,291,070
Ensembl chr10:65,272,849...65,291,064
JBrowse link
Sexual Infantilism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp19a1 cytochrome P450, family 19, subfamily a, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8265607 NCBI chr 8:58,744,849...58,772,408
Ensembl chr 8:58,744,849...58,772,408
JBrowse link
syndromic X-linked intellectual disability Cabezas type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cul4b cullin 4B ISO ClinVar Annotator: match by term: Syndromic X-linked mental retardation, Cabezas type
ClinVar Annotator: match by term: Mental retardation, X-linked, with short stature
ClinVar Annotator: match by OMIM:300354
OMIM
ClinVar
PMID:8135271, PMID:10978355, PMID:17236139, PMID:17273978, PMID:18414213, PMID:25385192, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr  X:124,831,391...124,870,329
Ensembl chr  X:124,832,628...124,870,329
JBrowse link
Turner syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cat catalase ISO CTD Direct Evidence: marker/mechanism CTD PMID:25101153 NCBI chr 3:93,379,872...93,412,058
Ensembl chr 3:93,379,874...93,412,058
JBrowse link
G Gh1 growth hormone 1 ISO CTD Direct Evidence: therapeutic CTD PMID:15151564 NCBI chr10:94,486,204...94,488,181
Ensembl chr10:94,486,205...94,488,180
JBrowse link
G Igf1 insulin-like growth factor 1 ISO protein:decreased activity:serum: RGD PMID:17067837 RGD:12743588 NCBI chr 7:28,412,123...28,491,815
Ensembl chr 7:28,412,198...28,486,609
JBrowse link
G Igfbp3 insulin-like growth factor binding protein 3 treatment ISO DNA:SNP: :¿¿¿202 A>C(rs2854744)(human) RGD PMID:17067837, PMID:22278433 RGD:12743588, RGD:12743598 NCBI chr14:87,457,647...87,465,374
Ensembl chr14:87,457,647...87,465,374
JBrowse link
G Nos2 nitric oxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25101153 NCBI chr10:66,188,290...66,221,621
Ensembl chr10:66,189,786...66,313,190
JBrowse link
G Sod1 superoxide dismutase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25101153 NCBI chr11:30,363,282...30,368,858
Ensembl chr11:30,363,280...30,368,862
JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25101153 NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
JBrowse link
G Vdr vitamin D receptor susceptibility ISO DNA:SNP: :rs7975232(human) RGD PMID:21823528 RGD:13432073 NCBI chr 7:139,344,452...139,394,138
Ensembl chr 7:139,342,063...139,394,166
JBrowse link
Warburg micro syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rab18 RAB18, member RAS oncogene family ISO ClinVar Annotator: match by term: Warburg micro syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
NCBI chr17:59,844,781...59,876,170
Ensembl chr17:59,844,781...59,876,164
JBrowse link
G Rab3gap1 RAB3 GTPase activating protein catalytic subunit 1 ISO ClinVar Annotator: match by OMIM:600118
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Warburg micro syndrome
ClinVar
CTD
PMID:25741868, PMID:26467025 NCBI chr13:44,578,208...44,649,876
Ensembl chr13:44,615,553...44,648,620
JBrowse link
G Rab3gap2 RAB3 GTPase activating non-catalytic protein subunit 2 ISO ClinVar Annotator: match by term: Warburg micro syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:27989324 NCBI chr13:103,157,806...103,229,010
Ensembl chr13:103,157,806...103,228,423
JBrowse link
G Tbc1d20 TBC1 domain family, member 20 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:147,772,006...147,790,946
Ensembl chr 3:147,772,165...147,789,158
JBrowse link
G Zranb3 zinc finger RANBP2-type containing 3 ISO ClinVar Annotator: match by term: Warburg micro syndrome ClinVar NCBI chr13:44,661,375...44,812,430
Ensembl chr13:44,661,398...44,798,543
JBrowse link
Warburg micro syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rab3gap1 RAB3 GTPase activating protein catalytic subunit 1 ISO ClinVar Annotator: match by term: Warburg micro syndrome 1 ClinVar
OMIM
PMID:8249951, PMID:8958326, PMID:10465117, PMID:15216543, PMID:15696165, PMID:17351351, PMID:18286824, PMID:18414213, PMID:20512159, PMID:20584031, PMID:23420520, PMID:25326635, PMID:25741868, PMID:26138576, PMID:26421802, PMID:26467025, PMID:26852512, PMID:28492532, PMID:29300443, PMID:31319225 NCBI chr13:44,578,208...44,649,876
Ensembl chr13:44,615,553...44,648,620
JBrowse link
G Zranb3 zinc finger RANBP2-type containing 3 ISO ClinVar Annotator: match by term: Warburg micro syndrome 1 ClinVar PMID:15696165, PMID:25741868, PMID:26138576, PMID:26467025, PMID:28492532, PMID:29300443 NCBI chr13:44,661,375...44,812,430
Ensembl chr13:44,661,398...44,798,543
JBrowse link
Warburg micro syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rab3gap2 RAB3 GTPase activating non-catalytic protein subunit 2 ISO ClinVar Annotator: match by term: Warburg micro syndrome 2
ClinVar Annotator: match by OMIM:614225
OMIM
ClinVar
PMID:20967465, PMID:23420520, PMID:24033266, PMID:25741868, PMID:28492532, PMID:29300443 NCBI chr13:103,157,806...103,229,010
Ensembl chr13:103,157,806...103,228,423
JBrowse link
Warburg micro syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rab18 RAB18, member RAS oncogene family ISO ClinVar Annotator: match by term: Warburg micro syndrome 3
ClinVar Annotator: match by OMIM:614222
OMIM
ClinVar
PMID:21473985, PMID:23420520, PMID:25741868, PMID:28492532, PMID:29300443 NCBI chr17:59,844,781...59,876,170
Ensembl chr17:59,844,781...59,876,164
JBrowse link
Warburg micro syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbc1d20 TBC1 domain family, member 20 ISO ClinVar Annotator: match by term: Warburg micro syndrome 4
ClinVar Annotator: match by OMIM:615663
OMIM
ClinVar
PMID:24239381, PMID:25741868 NCBI chr 3:147,772,006...147,790,946
Ensembl chr 3:147,772,165...147,789,158
JBrowse link
Woodhouse-Sakati Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dcaf17 DDB1 and CUL4 associated factor 17 ISO ClinVar Annotator: match by term: Woodhouse-Sakati syndrome
ClinVar Annotator: match by term: Hypogonadism, Alopecia, Diabetes Mellitus, Mental Retardation, and Extrapyramidal Syndrome
ClinVar Annotator: match by OMIM:241080
OMIM
ClinVar
PMID:6876115, PMID:17710875, PMID:18049083, PMID:18175354, PMID:18414213, PMID:19026396, PMID:20507343, PMID:21044051, PMID:24015686, PMID:24088041, PMID:25326637, PMID:25741868, PMID:26612766, PMID:26633545, PMID:26664771, PMID:28492532, PMID:29546359 NCBI chr 3:57,646,799...57,678,802
Ensembl chr 3:57,646,811...57,673,418
JBrowse link
G Mettl8 methyltransferase like 8 ISO ClinVar Annotator: match by term: Hypogonadism, Alopecia, Diabetes Mellitus, Mental Retardation, and Extrapyramidal Syndrome
ClinVar Annotator: match by term: Hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome
ClinVar PMID:17710875, PMID:19026396, PMID:26612766, PMID:28492532 NCBI chr 3:57,257,394...57,642,096 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      endocrine system disease 4987
        gonadal disease 901
          hypogonadism 120
            Alopecia, Hypogonadism, Extrapyramidal Disorder 2
            Alopecia-Mental Retardation Syndrome with Convulsions and Hypergonadotropic Hypogonadism 0
            Bassoe Syndrome 0
            Biemond Syndrome II 0
            Borjeson-Forssman-Lehmann syndrome 1
            Boucher-Neuhauser syndrome 1
            Cantalamessa Baldini Ambrosi Syndrome 0
            Cardiomyopathy Hypogonadism Collagenoma Syndrome 0
            Cerebellar Ataxia and Hypergonadotropic Hypogonadism 0
            Chang Davidson Carlson Syndrome 0
            Chudley-Rozdilsky Syndrome 0
            Congenital Infantile Muscular Dystrophy with Cataract and Hypogonadism 0
            De Sanctis-Cacchione Syndrome 1
            Deafness-Hypogonadism Syndrome 0
            Encephalopathy, Spastic Tetraparesis, and Hypogonadism 0
            Hypogonadism and Testicular Atrophy 0
            Hypogonadism with Low-Grade Mental Deficiency and Microcephaly 0
            Ichthyosis and Male Hypogonadism 0
            Isolated Mineralocorticoid Deficiency 1
            Johnson Neuroectodermal Syndrome 0
            Klinefelter syndrome 0
            Lubinsky Syndrome 0
            MEHMO syndrome 1
            Male Hypogonadism with Mental Retardation and Skeletal Anomalies 0
            Martsolf syndrome 2
            Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1 1
            Moebius Axonal Neuropathy Hypogonadism 0
            Moyamoya Disease 4 with Short Stature, Hypergonadotropic Hypogonadism, and Facial Dysmorphism 2
            Myopathy, Cataract, Hypogonadism Syndrome 0
            Progressive External Ophthalmoplegia with Hypogonadism 0
            Retinitis Pigmentosa, Deafness, Mental Retardation, and Hypogonadism 0
            Richards-Rundle Syndrome 0
            Rud Syndrome 0
            Scholte Syndrome 0
            Seemanova Lesny Syndrome 0
            Sexual Infantilism 1
            Slti Salem Syndrome 0
            Vasquez Hurst Sotos Syndrome 0
            Warburg micro syndrome + 5
            Weinstein Kliman Scully Syndrome 0
            Woodhouse-Sakati Syndrome 2
            Young Hughes Syndrome 0
            dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome 1
            eunuchism + 5
            gonadal dysgenesis + 49
            hypogonadotropic hypogonadism + 40
            hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism 4
            syndromic X-linked intellectual disability Cabezas type 1
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.