ONTOLOGY REPORT - ANNOTATIONS


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;   Undescended testicle;   Unilateral Cryptorchidism;   undescended testicles
 primary_id: MESH:D003456;   RDO:0000799
 alt_id: OMIM:219050
For additional species annotation, visit the Alliance of Genome Resources.


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cryptorchidism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adamts16em1Bj ADAM metallopeptidase with thrombospondin type 1 motif, 16; ZFN mutant1,Bj RGD:13434925
G Anxa5 annexin A5 JBrowse link 2 123,162,477 123,194,730 RGD:10053693
G Ar androgen receptor JBrowse link X 67,656,253 67,828,998 RGD:1578685
RGD:11576231
G Arid1b AT-rich interaction domain 1B JBrowse link 1 45,923,119 46,232,301 RGD:8554872
G Atrx ATRX, chromatin remodeler JBrowse link X 76,820,110 76,979,155 RGD:11554173
RGD:8554872
G Bcl2l1 Bcl2-like 1 JBrowse link 3 148,259,594 148,314,191 RGD:11554173
G Btd biotinidase JBrowse link 16 7,758,192 7,791,301 RGD:8554872
G Casp3 caspase 3 JBrowse link 16 48,845,011 48,863,249 RGD:11554173
RGD:13792609
G Cbl Cbl proto-oncogene JBrowse link 8 48,481,256 48,564,775 RGD:11554173
G Cftr cystic fibrosis transmembrane conductance regulator JBrowse link 4 42,693,263 42,860,679 RGD:11567213
G Chrm3 cholinergic receptor, muscarinic 3 JBrowse link 17 63,990,599 64,463,222 RGD:11554173
G Dupd1 dual specificity phosphatase and pro isomerase domain containing 1 JBrowse link 15 2,766,929 2,806,573 RGD:8554872
G Esr1 estrogen receptor 1 JBrowse link 1 41,192,029 41,594,799 RGD:8553220
G Fas Fas cell surface death receptor JBrowse link 1 252,589,785 252,624,790 RGD:13792609
G Gfer growth factor, augmenter of liver regeneration JBrowse link 10 14,059,347 14,061,703 RGD:9685739
G Gpx4 glutathione peroxidase 4 JBrowse link 7 12,516,357 12,519,154 RGD:11554173
G Hoxd13 homeo box D13 JBrowse link 3 61,590,376 61,593,692 RGD:12743597
G Hsd3b2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 JBrowse link 2 200,712,895 200,722,429 RGD:11554173
G Hsf1 heat shock transcription factor 1 JBrowse link 7 117,538,523 117,565,478 RGD:10402945
G Htra2 HtrA serine peptidase 2 JBrowse link 4 113,883,671 113,886,833 RGD:10402928
G Igf1r insulin-like growth factor 1 receptor JBrowse link 1 128,924,921 129,213,816 RGD:12904727
G Insl3 insulin-like 3 JBrowse link 16 20,120,753 20,122,702 RGD:1600162
RGD:11554173
RGD:8554872
RGD:7240710
G Kat6b lysine acetyltransferase 6B JBrowse link 15 2,811,933 2,966,833 RGD:8554872
G Kdm5a lysine demethylase 5A JBrowse link 4 152,892,388 152,972,196 RGD:9588526
G Mefv MEFV innate immuity regulator, pyrin JBrowse link 10 12,045,813 12,056,229 RGD:8554872
G Msx1 msh homeobox 1 JBrowse link 14 77,712,262 77,716,061 RGD:5132606
G Nfkbia NFKB inhibitor alpha JBrowse link 6 76,267,227 76,270,457 RGD:11567213
G Nipbl NIPBL, cohesin loading factor JBrowse link 2 57,508,830 57,676,197 RGD:8554872
G Plod1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 JBrowse link 5 164,720,629 164,747,071 RGD:8554872
G Ptgs2 prostaglandin-endoperoxide synthase 2 JBrowse link 13 67,351,230 67,356,920 RGD:11567213
G Rela RELA proto-oncogene, NF-kB subunit JBrowse link 1 220,992,770 221,003,249 RGD:11567213
G Rxfp2 relaxin family peptide receptor 2 JBrowse link 12 6,016,884 6,078,411 RGD:1600187
RGD:13592920
RGD:8554872
G Smchd1 structural maintenance of chromosomes flexible hinge domain containing 1 JBrowse link 9 119,675,750 119,818,620 RGD:8554872
G Sts steroid sulfatase JBrowse link X 45,420,418 45,428,748 RGD:1601402
G Syne2 spectrin repeat containing nuclear envelope protein 2 JBrowse link 6 98,884,269 99,153,551 RGD:12911229
G Szt2 SZT2 subunit of KICSTOR complex JBrowse link 5 137,192,120 137,238,384 RGD:8554872
3MC syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Colec11 collectin sub-family member 11 JBrowse link 6 47,857,767 47,889,961 RGD:7240710
RGD:11554173
RGD:8554872
G Masp1 mannan-binding lectin serine peptidase 1 JBrowse link 11 80,736,424 80,806,278 RGD:11554173
ALAZAMI-YUAN SYNDROME term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Taf6 TATA-box binding protein associated factor 6 JBrowse link 12 19,320,269 19,328,706 RGD:8554872
RGD:7240710
Autosomal Recessive Syndrome of Syndactyly, Undescended Testes and Central Nervous System Defects term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fbln1 fibulin 1 JBrowse link 7 126,096,793 126,176,468 RGD:8554872
Frontonasal Dysplasia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alx4 ALX homeobox 4 JBrowse link 3 82,548,959 82,585,531 RGD:7240710
RGD:8554872
Growth Mental Deficiency Syndrome of Myhre term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Smad4 SMAD family member 4 JBrowse link 18 69,626,682 69,657,373 RGD:7240710
RGD:8554872
RGD:12880042
RGD:11554173
Skeletal Defects, Genital Hypoplasia, And Mental Retardation term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Zbtb16 zinc finger and BTB domain containing 16 JBrowse link 8 52,980,226 53,146,765 RGD:7240710
RGD:8554872
Testicular Anomalies with or without Congenital Heart Disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gata4 GATA binding protein 4 JBrowse link 15 46,386,703 46,458,679 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14875
    physical disorder 742
      cryptorchidism 49
        3MC syndrome 2 2
        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 14875
    disease of anatomical entity 14051
      Urogenital Diseases 3874
        reproductive system disease 2357
          male reproductive system disease 1663
            testicular disease 147
              cryptorchidism 49
                3MC syndrome 2 2
                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

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