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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:cryptorchidism
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Accession:DOID:11383 term browser browse the term
Definition:A developmental defect in which a TESTIS or both TESTES failed to descend from high in the ABDOMEN to the bottom of the SCROTUM. Testicular descent is essential to normal SPERMATOGENESIS which requires temperature lower than the BODY TEMPERATURE. Cryptorchidism can be subclassified by the location of the maldescended testis.
Synonyms:exact_synonym: Abdominal Cryptorchidism;   Bilateral Cryptorchidism;   Cryptorchidism, Unilateral Or Bilateral;   Cryptorchism;   Inguinal Cryptorchidism;   Undescended Testes;   Undescended Testis;   Unilateral Cryptorchidism;   undescended testicle;   undescended testicles
 primary_id: MESH:D003456
 alt_id: OMIM:219050
 xref: ICD10CM:Q53.9;   ICD9CM:752.51;   NCI:C12326
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
cryptorchidism term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamts16 ADAM metallopeptidase with thrombospondin type 1 motif, 16 IMP RGD PMID:32037220, PMID:24983376 RGD:38548917, RGD:13434925 NCBI chr 1:35,067,268...35,200,530
Ensembl chr 1:35,067,490...35,198,939
JBrowse link
G Adamts16em1Bj ADAM metallopeptidase with thrombospondin type 1 motif, 16; ZFN mutant1,Bj IMP RGD PMID:24983376, PMID:32037220 RGD:13434925, RGD:38548917
G Anxa5 annexin A5 IEP protein:increased expression: seminiferous tubulle RGD PMID:19376566 RGD:10053693 NCBI chr 2:123,162,477...123,194,730
Ensembl chr 2:123,162,461...123,193,130
JBrowse link
G Ar androgen receptor ISO DNA:repeats:exon RGD PMID:15472213, PMID:15757859 RGD:1578685, RGD:11576231 NCBI chr  X:67,656,253...67,828,998
Ensembl chr  X:67,656,253...67,829,026
JBrowse link
G Atrx ATRX, chromatin remodeler ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cryptorchidism
CTD
ClinVar
PMID:7697714 PMID:19291773 PMID:25741868 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
G Bcl2l1 Bcl2-like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26050606 NCBI chr 3:148,259,594...148,314,191
Ensembl chr 3:148,259,596...148,313,810
JBrowse link
G Btd biotinidase ISO ClinVar Annotator: match by term: Cryptorchidism ClinVar NCBI chr16:7,758,192...7,791,301
Ensembl chr16:7,758,996...7,791,243
JBrowse link
G Casp3 caspase 3 ISO
IEP
CTD Direct Evidence: marker/mechanism CTD PMID:26050606, PMID:29606031 RGD:13792609 NCBI chr16:48,845,011...48,863,249
Ensembl chr16:48,845,012...48,863,204
JBrowse link
G Cbl Cbl proto-oncogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:20694012 NCBI chr 8:48,481,256...48,564,775
Ensembl chr 8:48,489,036...48,564,722
JBrowse link
G Cftr CF transmembrane conductance regulator ISO mRNA, protein:decreased expression:testis RGD PMID:22777528 RGD:11567213 NCBI chr 4:42,693,263...42,860,679
Ensembl chr 4:42,692,836...42,860,676
JBrowse link
G Chrm3 cholinergic receptor, muscarinic 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22077972 NCBI chr17:63,990,599...64,463,222
Ensembl chr17:63,990,599...63,994,169
JBrowse link
G Dusp29 dual specificity phosphatase 29 ISO ClinVar Annotator: match by term: Cryptorchidism ClinVar PMID:25741868 NCBI chr15:2,766,929...2,806,573
Ensembl chr15:2,766,710...2,806,536
JBrowse link
G Esr1 estrogen receptor 1 IEP mRNA:decreased expression:testis RGD PMID:20951417 RGD:8553220 NCBI chr 1:41,192,029...41,594,799
Ensembl chr 1:41,192,824...41,594,796
JBrowse link
G Fas Fas cell surface death receptor IEP RGD PMID:29606031 RGD:13792609 NCBI chr 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790
JBrowse link
G Gfer growth factor, augmenter of liver regeneration IEP protein:decreased expression:male germ cell: RGD PMID:17918708 RGD:9685739 NCBI chr10:14,059,347...14,061,703
Ensembl chr10:14,059,347...14,061,703
JBrowse link
G Gpx4 glutathione peroxidase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26050606 NCBI chr 7:12,516,357...12,519,154
Ensembl chr 7:12,516,352...12,519,154
JBrowse link
G Hoxd13 homeo box D13 ISO DNA:splice-site mutation:exon:180A>G (human) RGD PMID:17216618 RGD:12743597 NCBI chr 3:61,590,376...61,593,692
Ensembl chr 3:61,590,376...61,593,692
JBrowse link
G Hsd3b2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26050606 NCBI chr 2:200,712,895...200,722,429
Ensembl chr 2:202,341,422...202,350,929
JBrowse link
G Hsf1 heat shock transcription factor 1 IEP protein:increased expression:testis, spermatocyte, nucleus (rat) RGD PMID:21480429 RGD:10402945 NCBI chr 7:117,538,523...117,565,478
Ensembl chr 7:117,538,523...117,565,478
JBrowse link
G Htra2 HtrA serine peptidase 2 IEP RGD PMID:16563141 RGD:10402928 NCBI chr 4:113,883,671...113,886,833
Ensembl chr 4:113,883,670...113,886,994
JBrowse link
G Igf1r insulin-like growth factor 1 receptor IEP protein:decreased expression:testis (rat) RGD PMID:7473418 RGD:12904727 NCBI chr 1:128,924,921...129,213,816
Ensembl chr 1:128,924,966...129,206,516
JBrowse link
G Insl3 insulin-like 3 ISO idiopathic cryptorchidism, OMIM:219050
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:219050
CTD
ClinVar
OMIM
PMID:11095425 PMID:11746019 PMID:12601553 PMID:12970298 PMID:14687758 PMID:16102138, PMID:12601553 RGD:1600162 NCBI chr16:20,120,753...20,122,702
Ensembl chr16:20,121,352...20,122,696
JBrowse link
G Kat6b lysine acetyltransferase 6B ISO ClinVar Annotator: match by term: Cryptorchidism ClinVar PMID:25741868 NCBI chr15:2,811,933...2,966,833
Ensembl chr15:2,813,537...2,966,576
JBrowse link
G Kdm5a lysine demethylase 5A IEP mRNA:increased expression:testes (rat) RGD PMID:24679876 RGD:9588526 NCBI chr 4:152,892,388...152,972,196
Ensembl chr 4:152,892,388...152,972,201
JBrowse link
G Kiss1r KISS1 receptor ISO ClinVar Annotator: match by term: Bilateral cryptorchidism ClinVar PMID:29452377 NCBI chr 7:12,606,210...12,609,868
Ensembl chr 7:12,606,210...12,609,868
JBrowse link
G Lsm1 LSM1 homolog, mRNA degradation associated ISO ClinVar Annotator: match by term: Cryptorchidism ClinVar PMID:25741868 PMID:31010896 NCBI chr16:71,046,475...71,057,883
Ensembl chr16:71,046,475...71,057,883
JBrowse link
G Mefv MEFV innate immuity regulator, pyrin ISO ClinVar Annotator: match by term: Cryptorchidism ClinVar PMID:9288094 PMID:9288758 PMID:9781020 PMID:10364520 PMID:10787449 PMID:11464248 PMID:15643295 PMID:15942916 PMID:16498449 PMID:16785446 PMID:16889173 PMID:18353061 PMID:19790133 PMID:20008920 PMID:20041150 PMID:21290976 PMID:22037353 PMID:22337722 PMID:22903357 PMID:23010357 PMID:23070486 PMID:23325590 PMID:23334425 PMID:23867542 PMID:23907647 PMID:24117178 PMID:24318677 PMID:25203624 PMID:25741868 PMID:26247045 PMID:26554556 PMID:26620106 PMID:27030597 PMID:27838405 PMID:28421071 PMID:28492532 PMID:29178647 PMID:29260407 PMID:29599418 PMID:30171907 PMID:31411330 PMID:33223529 NCBI chr10:12,045,813...12,056,229
Ensembl chr10:12,046,541...12,056,311
JBrowse link
G Mfsd2a major facilitator superfamily domain containing 2A ISO ClinVar Annotator: match by term: Cryptorchidism ClinVar NCBI chr 5:140,642,865...140,657,759
Ensembl chr 5:140,642,885...140,657,745
JBrowse link
G Msx1 msh homeobox 1 IEP RGD PMID:18222913 RGD:5132606 NCBI chr14:77,712,262...77,716,061
Ensembl chr14:77,712,240...77,716,059
JBrowse link
G Nfkbia NFKB inhibitor alpha ISO protein:decreased expression:testis RGD PMID:22777528 RGD:11567213 NCBI chr 6:76,267,227...76,270,457
Ensembl chr 6:76,267,228...76,270,457
JBrowse link
G Nipbl NIPBL, cohesin loading factor ISO ClinVar Annotator: match by term: Cryptorchidism ClinVar PMID:25741868 NCBI chr 2:57,508,830...57,676,197
Ensembl chr 2:57,509,428...57,600,820
JBrowse link
G Plod1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 ISO ClinVar Annotator: match by term: Bilateral cryptorchidism ClinVar PMID:25741868 NCBI chr 5:164,720,629...164,747,071
Ensembl chr 5:164,720,587...164,747,083
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO mRNA, protein:increased expression:testis RGD PMID:22777528 RGD:11567213 NCBI chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335
JBrowse link
G Rela RELA proto-oncogene, NF-kB subunit ISO protein:increased expression:testis RGD PMID:22777528 RGD:11567213 NCBI chr 1:220,992,770...221,003,249
Ensembl chr 1:220,992,770...221,003,249
JBrowse link
G Rxfp2 relaxin family peptide receptor 2 ISO
ISS
bilateral cryptorchidism, OMIM:219050
ClinVar Annotator: match by OMIM:219050
MouseDO
ClinVar
PMID:12217959 PMID:12970298 PMID:20636340, PMID:12217959 RGD:1600187 NCBI chr12:6,016,884...6,078,411
Ensembl chr12:6,016,884...6,078,411
JBrowse link
G Smchd1 structural maintenance of chromosomes flexible hinge domain containing 1 ISO ClinVar Annotator: match by term: Undescended testis ClinVar PMID:28067909 NCBI chr 9:119,675,750...119,818,620
Ensembl chr 9:119,676,628...119,818,310
JBrowse link
G Sts steroid sulfatase IEP protein:increased expression:scrotum, testis RGD PMID:2576297 RGD:1601402 NCBI chr  X:45,420,418...45,428,748
Ensembl chr  X:45,420,596...45,428,750
JBrowse link
G Syne2 spectrin repeat containing nuclear envelope protein 2 IAGP DNA:deletion:exon: RGD PMID:26502805 RGD:12911229 NCBI chr 6:98,884,269...99,153,551 JBrowse link
G Szt2 SZT2 subunit of KICSTOR complex ISO ClinVar Annotator: match by term: Cryptorchidism ClinVar PMID:25741868 PMID:28492532 PMID:30564332 NCBI chr 5:137,192,120...137,238,384
Ensembl chr 5:137,190,875...137,238,354
JBrowse link
G Tuba1a tubulin, alpha 1A ISO ClinVar Annotator: match by term: Cryptorchidism ClinVar PMID:18954413 PMID:25741868 PMID:30744660 PMID:32581362 NCBI chr 7:140,637,287...140,640,953
Ensembl chr 7:140,637,287...140,640,953
JBrowse link
3MC syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Colec11 collectin sub-family member 11 ISO ClinVar Annotator: match by term: Carnevale syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:265050
OMIM
ClinVar
CTD
PMID:2569826 PMID:8933348 PMID:21258343 PMID:25741868 NCBI chr 6:47,857,767...47,889,961
Ensembl chr 6:47,857,771...47,890,033
JBrowse link
G Masp1 MBL associated serine protease 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21258343 NCBI chr11:80,736,424...80,806,278
Ensembl chr11:80,736,576...80,803,382
JBrowse link
G Slc26a2 solute carrier family 26 member 2 ISO ClinVar Annotator: match by term: OSA syndrome ClinVar PMID:8528239 PMID:8571951 PMID:8931695 PMID:9342225 PMID:10465113 PMID:10482955 PMID:11241838 PMID:11303514 PMID:11448940 PMID:11565064 PMID:12525546 PMID:12966518 PMID:15294877 PMID:15316973 PMID:16642506 PMID:18708426 PMID:18925670 PMID:20219950 PMID:20301524 PMID:20525296 PMID:21077202 PMID:21077204 PMID:21155763 PMID:21922596 PMID:22052783 PMID:23840040 PMID:24033266 PMID:24598000 PMID:25741868 PMID:27065010 PMID:28492532 PMID:29024831 NCBI chr18:56,518,999...56,534,539
Ensembl chr18:56,520,740...56,534,415
JBrowse link
Alazami-Yuan Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Taf6 TATA-box binding protein associated factor 6 ISO ClinVar Annotator: match by term: Alazami-Yuan syndrome ClinVar
OMIM
PMID:11295558 PMID:25558065 PMID:25574841 PMID:25741868 NCBI chr12:19,320,269...19,328,706
Ensembl chr12:19,320,271...19,328,637
JBrowse link
Autosomal Recessive Syndrome of Syndactyly, Undescended Testes and Central Nervous System Defects term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbln1 fibulin 1 ISO ClinVar Annotator: match by term: Autosomal recessive syndrome of syndactyly, undescended testes and central nervous system defects ClinVar PMID:24084572 NCBI chr 7:126,096,793...126,176,468
Ensembl chr 7:126,096,793...126,176,468
JBrowse link
Frontonasal Dysplasia 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alx4 ALX homeobox 4 ISO ClinVar Annotator: match by null
ClinVar Annotator: match by OMIM:613451
ClinVar Annotator: match by term: Frontonasal dysplasia 2
OMIM
ClinVar
PMID:19692347 PMID:22140057 PMID:24668755 PMID:25741868 NCBI chr 3:82,548,959...82,585,531
Ensembl chr 3:82,548,959...82,585,531
JBrowse link
Growth Mental Deficiency Syndrome of Myhre term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smad4 SMAD family member 4 ISO ClinVar Annotator: match by term: Myhre syndrome
ClinVar Annotator: match by term: Heritable Thoracic Aortic Disease
ClinVar Annotator: match by term: Growth mental deficiency syndrome of Myhre
DNA:missense mutations:exon:p.I500T (c.1498A>G), p.I500V, p.I500M (human)
ClinVar Annotator: match by OMIM:139210
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:8898652 PMID:9582123 PMID:9679244 PMID:9811934 PMID:10479724 PMID:10764709 PMID:10775259 PMID:10790223 PMID:10797267 PMID:11274206 PMID:11782434 PMID:11977156 PMID:12821112 PMID:14715079 PMID:15014009 PMID:15031030 PMID:15235019 PMID:15288293 PMID:16152648 PMID:16436638 PMID:16613914 PMID:17873119 PMID:17994767 PMID:18355998 PMID:18823382 PMID:20101697 PMID:21835029 PMID:22158539 PMID:22243968 PMID:22316667 PMID:22331366 PMID:22585601 PMID:22683461 PMID:22703879 PMID:22748914 PMID:22875147 PMID:23239472 PMID:23399955 PMID:24033266 PMID:24398790 PMID:24424121 PMID:24465802 PMID:24580733 PMID:24715504 PMID:24841914 PMID:25148578 PMID:25186627 PMID:25318351 PMID:25559809 PMID:25589618 PMID:25637381 PMID:25695693 PMID:25741868 PMID:25980754 PMID:26467025 PMID:26619011 PMID:26633542 PMID:26636501 PMID:26681312 PMID:26976419 PMID:27146957 PMID:27153395 PMID:27302097 PMID:27375208 PMID:27443514 PMID:27562837 PMID:27595937 PMID:27613157 PMID:27978560 PMID:28135145 PMID:28196074 PMID:28492532 PMID:28528518 PMID:28628100 PMID:28726808 PMID:28873162 PMID:28944238 PMID:29684080 PMID:30719162 PMID:30809044 PMID:30842500 PMID:30968316 PMID:31159747 PMID:31474762 PMID:31595668 PMID:31654632 PMID:31758407 PMID:31837202 PMID:32573726, PMID:22158539 RGD:12880042 NCBI chr18:69,626,682...69,657,373
Ensembl chr18:69,627,757...69,671,199
JBrowse link
Skeletal Defects, Genital Hypoplasia, And Mental Retardation term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zbtb16 zinc finger and BTB domain containing 16 ISO ClinVar Annotator: match by OMIM:612447 OMIM
ClinVar
PMID:11891687 PMID:18611983 NCBI chr 8:52,980,226...53,146,765
Ensembl chr 8:52,985,313...53,146,953
JBrowse link
Testicular Anomalies with or without Congenital Heart Disease term browser
Symbol Object Name 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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16122
    disease of anatomical entity 15369
      endocrine system disease 5011
        gonadal disease 917
          disorder of sexual development 151
            cryptorchidism 53
              3MC syndrome 2 3
              Alazami-Yuan Syndrome 1
              Arroyo Garcia Cimadevilla Syndrome 0
              Autosomal Recessive Syndrome of Syndactyly, Undescended Testes and Central Nervous System Defects 1
              Frontonasal Dysplasia 2 1
              Growth Mental Deficiency Syndrome of Myhre 1
              Ichthyosis and Male Hypogonadism 0
              Lynch Lee Murday syndrome 0
              McDonough Syndrome 0
              Otofacioosseous-Gonadal Syndrome 0
              Singh Chhaparwal Dhanda Syndrome 0
              Skeletal Defects, Genital Hypoplasia, And Mental Retardation 1
              Testicular Anomalies with or without Congenital Heart Disease 1
              Torticollis Keloids Cryptorchidism Renal Dysplasia 0
              Urioste Martinez-Frias Syndrome 0
Path 2
Term Annotations click to browse term
  disease 16122
    disease of anatomical entity 15369
      Urogenital Diseases 4159
        reproductive system disease 2589
          male reproductive system disease 1774
            testicular disease 148
              cryptorchidism 53
                3MC syndrome 2 3
                Alazami-Yuan Syndrome 1
                Arroyo Garcia Cimadevilla Syndrome 0
                Autosomal Recessive Syndrome of Syndactyly, Undescended Testes and Central Nervous System Defects 1
                Frontonasal Dysplasia 2 1
                Growth Mental Deficiency Syndrome of Myhre 1
                Ichthyosis and Male Hypogonadism 0
                Lynch Lee Murday syndrome 0
                McDonough Syndrome 0
                Otofacioosseous-Gonadal Syndrome 0
                Singh Chhaparwal Dhanda Syndrome 0
                Skeletal Defects, Genital Hypoplasia, And Mental Retardation 1
                Testicular Anomalies with or without Congenital Heart Disease 1
                Torticollis Keloids Cryptorchidism Renal Dysplasia 0
                Urioste Martinez-Frias Syndrome 0
paths to the root