ONTOLOGY REPORT - ANNOTATIONS


Term:hypospadias
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Accession:DOID:10892 term browser browse the term
Definition:A birth defect due to malformation of the URETHRA in which the urethral opening is below its normal location. In the male, the malformed urethra generally opens on the ventral surface of the PENIS or on the PERINEUM. In the female, the malformed urethral opening is in the VAGINA.
Synonyms:exact_synonym: HYSP4;   familial hypospadias;   hypospadia
 related_synonym: Hypospadias 4, X-Linked, Susceptibility to
 primary_id: MESH:D007021
 alt_id: DOID:9000084;   OMIM:300856;   RDO:0000276;   RDO:0010084
 xref: OMIM:PS300633;   ORDO:440
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hypospadias term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ar androgen receptor JBrowse link X 67,656,253 67,828,998 RGD:1578685
RGD:13592920
RGD:11576230
G Atf3 activating transcription factor 3 JBrowse link 13 109,817,892 109,849,632 RGD:11554173
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 JBrowse link 8 62,472,087 62,478,122 RGD:11576312
RGD:11576313
G Dgkk diacylglycerol kinase kappa JBrowse link X 16,441,318 16,526,046 RGD:11554173
G Esr2 estrogen receptor 2 JBrowse link 6 99,163,953 99,214,711 RGD:1626506
G Fgf10 fibroblast growth factor 10 JBrowse link 2 51,673,480 51,747,533 RGD:2314151
G Fgf8 fibroblast growth factor 8 JBrowse link 1 265,492,949 265,498,965 RGD:2314151
G Fgfr2 fibroblast growth factor receptor 2 JBrowse link 1 200,590,951 200,696,946 RGD:2314151
G Gli3 GLI family zinc finger 3 JBrowse link 17 52,294,942 52,569,036 RGD:12743602
G Gstm1 glutathione S-transferase mu 1 JBrowse link 2 210,803,869 210,809,461 RGD:11576313
G Gstt1 glutathione S-transferase theta 1 JBrowse link 20 13,799,102 13,816,527 RGD:11576313
G Hoxa13 homeo box A13 RGD:12743602
G Hoxd13 homeo box D13 JBrowse link 3 61,590,376 61,593,692 RGD:12743602
RGD:8554872
G Hsd3b1 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 RGD:1625114
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 Srd5a2 steroid 5 alpha-reductase 2 JBrowse link 6 25,279,635 25,315,501 RGD:1600059
Hypospadias 1, X-Linked term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ar androgen receptor JBrowse link X 67,656,253 67,828,998 RGD:7240710
RGD:8554872
Opitz GBBB Syndrome, Type I term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mid1 midline 1 JBrowse link X 25,458,782 25,839,941 RGD:7240710
RGD:8554872
Opitz GBBB Syndrome, Type II term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mid1 midline 1 JBrowse link X 25,458,782 25,839,941 RGD:8554872
G Specc1l sperm antigen with calponin homology and coiled-coil domains 1-like JBrowse link 20 14,287,470 14,393,879 RGD:7240710
Opitz-GBBB syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mid1 midline 1 JBrowse link X 25,458,782 25,839,941 RGD:13592920
RGD:8554872
G Specc1l sperm antigen with calponin homology and coiled-coil domains 1-like JBrowse link 20 14,287,470 14,393,879 RGD:13592920
RGD:8554872
Preaxial Deficiency, Postaxial Polydactyly and Hypospadias term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hoxa13 homeo box A13 RGD:7240710
RGD:8554872
RGD:11554173
Pseudovaginal Perineoscrotal Hypospadias term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aldoa aldolase, fructose-bisphosphate A JBrowse link 1 198,228,387 198,233,988 RGD:8554872
G Brca2 BRCA2, DNA repair associated JBrowse link 12 503,660 544,754 RGD:8554872
G Cyp1b1 cytochrome P450, family 1, subfamily b, polypeptide 1 JBrowse link 6 2,308,179 2,316,739 RGD:8554872
G Gba glucosylceramidase beta JBrowse link 2 188,511,781 188,522,602 RGD:8554872
G Srd5a2 steroid 5 alpha-reductase 2 JBrowse link 6 25,279,635 25,315,501 RGD:7240710
RGD:8554872
RGD:11554173
Scalp Ear Nipple Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kctd1 potassium channel tetramerization domain containing 1 JBrowse link 18 6,374,778 6,474,990 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14823
    physical disorder 742
      hypospadias 23
        Anal Atresia, Hypospadias, and Penoscrotal Inversion 0
        Hypospadias 1, X-Linked 1
        Hypospadias 2, X-Linked 0
        Hypospadias 3, Autosomal 0
        Hypospadias, Hypertelorism, Upper Lid Coloboma, and Mixed-Type Hearing Loss 0
        Hypospadias-Mental Retardation Syndrome 0
        Naguib-Richieri-Costa Syndrome 0
        Opitz-GBBB syndrome + 2
        Preaxial Deficiency, Postaxial Polydactyly and Hypospadias 1
        Pseudovaginal Perineoscrotal Hypospadias 5
        Radial Hypoplasia, Triphalangeal Thumbs and Hypospadias 0
        Radius Absent Anogenital Anomalies 0
        Scalp Ear Nipple Syndrome 1
        Schilbach-Rott Syndrome Ocular Hypotelorism, Submucosal Cleft Palate, and Hypospadias 0
        Stratton-Parker Syndrome 0
Path 2
Term Annotations click to browse term
  disease 14823
    disease of anatomical entity 13997
      Urogenital Diseases 3777
        reproductive system disease 2253
          male reproductive system disease 1663
            penile disease 41
              hypospadias 23
                Anal Atresia, Hypospadias, and Penoscrotal Inversion 0
                Hypospadias 1, X-Linked 1
                Hypospadias 2, X-Linked 0
                Hypospadias 3, Autosomal 0
                Hypospadias, Hypertelorism, Upper Lid Coloboma, and Mixed-Type Hearing Loss 0
                Hypospadias-Mental Retardation Syndrome 0
                Naguib-Richieri-Costa Syndrome 0
                Opitz-GBBB syndrome + 2
                Preaxial Deficiency, Postaxial Polydactyly and Hypospadias 1
                Pseudovaginal Perineoscrotal Hypospadias 5
                Radial Hypoplasia, Triphalangeal Thumbs and Hypospadias 0
                Radius Absent Anogenital Anomalies 0
                Scalp Ear Nipple Syndrome 1
                Schilbach-Rott Syndrome Ocular Hypotelorism, Submucosal Cleft Palate, and Hypospadias 0
                Stratton-Parker 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.