Creative Commons Attribution 4.0 International CC-BY-4.0 https://creativecommons.org/licenses/by/4.0/legalcode 162706 Orphanet classification of rare urogenital diseases 101433 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101433 Rare urogenital disease Category 692256 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=692256 Isolated anogenital granulomatosis Disease 693815 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=693815 Uterine arteriovenous malformation Malformation syndrome 693872 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=693872 Urinary tract arteriovenous malformation Malformation syndrome 2795 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2795 Fowler urethral sphincter dysfunction syndrome Disease 37202 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=37202 Interstitial cystitis Disease 83001 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83001 Urogenital tract malformation Category 165704 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=165704 Non-syndromic urogenital tract malformation Category 182117 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182117 Non-syndromic urogenital tract malformation of female Category 180065 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180065 Non-syndromic uterovaginal malformation Category 1916 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1916 Diethylstilbestrol syndrome Malformation syndrome 73217 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73217 Müllerian aplasia Clinical group 180068 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180068 Partial bilateral aplasia of the Müllerian ducts Clinical group 3109 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3109 Mayer-Rokitansky-Küster-Hauser syndrome Malformation syndrome 2578 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2578 Mayer-Rokitansky-Küster-Hauser syndrome type 2 Clinical subtype 247775 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247775 Mayer-Rokitansky-Küster-Hauser syndrome type 1 Clinical subtype 247768 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247768 Müllerian aplasia and hyperandrogenism Malformation syndrome 180071 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180071 Unilateral aplasia of the Müllerian ducts Clinical group 180074 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180074 True unicornuate uterus Morphological anomaly 180079 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180079 Pseudounicornuate uterus Morphological anomaly 180122 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180122 Septate uterus Clinical group 180126 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180126 Complete septate uterus Morphological anomaly 180129 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180129 Partial septate uterus Morphological anomaly 180134 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180134 Bicornuate uterus Clinical group 180086 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180086 Didelphys uterus Morphological anomaly 180106 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180106 Bicervical bicornuate uterus and blind hemivagina Clinical subtype 180111 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180111 Bicervical bicornuate uterus with patent cervix and vagina Clinical subtype 180114 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180114 Unicervical bicornuate uterus Morphological anomaly 180139 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180139 Uterine hypoplasia Morphological anomaly 180142 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180142 Absence of uterine body Morphological anomaly 180145 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180145 Uterine cervical aplasia and agenesis Morphological anomaly 180151 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180151 Rare vaginal malformation Category 65681 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65681 Vaginal atresia Morphological anomaly 96269 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96269 Isolated partial vaginal agenesis Morphological anomaly 180154 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180154 Septate vagina Morphological anomaly 180157 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180157 Longitudinal vaginal septum Clinical subtype 180160 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180160 Transverse vaginal septum Clinical subtype 603515 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=603515 Isolated female hypospadias Morphological anomaly 647794 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=647794 Isolated persistent urogenital sinus Morphological anomaly 182121 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182121 Non-syndromic urogenital tract malformation of male Category 48 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48 Congenital bilateral absence of vas deferens Morphological anomaly 2842 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2842 Penoscrotal transposition Morphological anomaly 49 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=49 Penile agenesis Morphological anomaly 227 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=227 Diphallia Morphological anomaly 95706 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95706 Non-syndromic posterior hypospadias Morphological anomaly 95707 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95707 Idiopathic isolated micropenis Morphological anomaly 696897 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=696897 Congenital megaprepuce Morphological anomaly 495879 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=495879 Congenital agenesis of the scrotum Morphological anomaly 182124 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182124 Non-syndromic urogenital tract malformation of male and female Category 322 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=322 Exstrophy-epispadias complex Malformation syndrome 93928 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93928 Isolated epispadias Clinical subtype 93929 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93929 Cloacal exstrophy Clinical subtype 93930 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93930 Classic bladder exstrophy Clinical subtype 237 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=237 Duplication of urethra Morphological anomaly 617 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=617 Congenital primary megaureter Morphological anomaly 238642 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238642 Primary megaureter, adult-onset form Clinical subtype 238646 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238646 Congenital primary megaureter, obstructed form Clinical subtype 238650 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238650 Congenital primary megaureter, refluxing form Clinical subtype 238654 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238654 Congenital primary megaureter, nonrefluxing and unobstructed form Clinical subtype 544578 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=544578 Congenital primary megaureter, refluxing and obstructed form Clinical subtype 289365 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289365 Familial vesicoureteral reflux Malformation syndrome 435365 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435365 Fetal lower urinary tract obstruction Clinical group 2970 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2970 Prune belly syndrome Malformation syndrome 105 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=105 Atresia of urethra Morphological anomaly 93110 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93110 Posterior urethral valve Morphological anomaly 435372 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435372 Anterior urethral valve Morphological anomaly 435743 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435743 Congenital urachal anomaly Category 488 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488 Urachal cyst Morphological anomaly 431341 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=431341 Patent urachus Morphological anomaly 431344 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=431344 Urachal sinus Morphological anomaly 431347 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=431347 Urachal diverticulum Morphological anomaly 165707 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=165707 Syndromic urogenital tract malformation Category 881 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=881 Turner syndrome Malformation syndrome 99226 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99226 Monosomy X syndrome Etiological subtype 99228 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99228 Mosaic monosomy X syndrome Etiological subtype 99413 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99413 Turner syndrome due to structural X chromosome anomalies Etiological subtype 138 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=138 CHARGE syndrome Malformation syndrome 915 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=915 Aarskog-Scott syndrome Malformation syndrome 1046 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1046 Lethal hemolytic anemia-genital anomalies syndrome Malformation syndrome 444941 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444941 Caudal regression-sirenomelia spectrum Clinical group 3027 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3027 Caudal regression syndrome Malformation syndrome 3169 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3169 Sirenomelia Malformation syndrome 1768 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1768 Familial caudal dysgenesis Malformation syndrome 10 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=10 48,XXYY syndrome Malformation syndrome 3176 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3176 Spina bifida-hypospadias syndrome Malformation syndrome 921 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=921 Abruzzo-Erickson syndrome Malformation syndrome 1299 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1299 Branchioskeletogenital syndrome Malformation syndrome 1974 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1974 Autosomal recessive faciodigitogenital syndrome Malformation syndrome 2211 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2211 Hypertelorism-hypospadias-polysyndactyly syndrome Malformation syndrome 2252 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2252 Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome Malformation syndrome 2261 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2261 Hypospadias-intellectual disability, Goldblatt type syndrome Malformation syndrome 2353 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2353 Schilbach-Rott syndrome Malformation syndrome 2437 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2437 Czeizel-Losonci syndrome Malformation syndrome 2487 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2487 Lower limb malformation-hypospadias syndrome Malformation syndrome 2491 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2491 Müllerian duct anomalies-limb anomalies syndrome Malformation syndrome 2669 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2669 Nephrosis-deafness-urinary tract-digital malformations syndrome Malformation syndrome 2957 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2957 Guttmacher syndrome Malformation syndrome 3224 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3224 Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome Malformation syndrome 3341 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3341 Torticollis-keloids-cryptorchidism-renal dysplasia syndrome Malformation syndrome 2745 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2745 Opitz GBBB syndrome Malformation syndrome 3411 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3411 Double uterus-hemivagina-renal agenesis syndrome Malformation syndrome 85173 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85173 IMAGe syndrome Malformation syndrome 1655 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1655 Müllerian derivatives-lymphangiectasia-polydactyly syndrome Malformation syndrome 96263 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96263 48,XXXY syndrome Malformation syndrome 96264 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96264 49,XXXXY syndrome Malformation syndrome 99329 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99329 48,XYYY syndrome Malformation syndrome 251071 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251071 8p23.1 microdeletion syndrome Malformation syndrome 423655 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423655 ARX-related encephalopathy-brain malformation spectrum Clinical group 2508 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2508 Corpus callosum agenesis-abnormal genitalia syndrome Malformation syndrome 452 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=452 X-linked lissencephaly with abnormal genitalia Malformation syndrome 439897 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439897 Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome Malformation syndrome 500135 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500135 Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome Malformation syndrome 495875 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=495875 Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome Malformation syndrome 567502 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=567502 B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome Disease 684305 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=684305 Neurooculocardiogenitourinary syndrome Disease 597749 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=597749 KAT6B-related multiple congenital anomalies syndrome Clinical group 3047 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3047 Blepharophimosis-intellectual disability syndrome, SBBYS type Malformation syndrome 85201 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85201 Genitopatellar syndrome Malformation syndrome 597746 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=597746 Blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome Malformation syndrome 597743 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=597743 SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome Malformation syndrome 84085 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=84085 Hinman syndrome Disease 90771 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90771 Difference of sex development Category 2982 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2982 46,XX difference of sex development Category 98078 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98078 46,XX difference of sex development induced by androgens excess Category 90776 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90776 46,XX difference of sex development induced by fetal androgens excess Category 786 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=786 Generalized glucocorticoid resistance syndrome Disease 90791 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90791 Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency Disease 90794 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90794 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency Disease 315306 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=315306 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form Clinical subtype 315311 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=315311 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form Clinical subtype 90795 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90795 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency Disease 95699 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency Disease 63269 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63269 Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis Clinical subtype 91144 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91144 46,XX difference of sex development induced by maternal-derived androgen Category 325093 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325093 46,XX difference of sex development induced by endogenous maternal-derived androgen Clinical group 325099 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325099 46,XX difference of sex development induced by exogenous maternal-derived androgen Clinical group 325061 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325061 46,XX difference of sex development induced by fetoplacental androgens excess Category 91 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91 Aromatase deficiency Disease 325055 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325055 46,XX disorder of gonadal development Category 243 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=243 46,XX gonadal dysgenesis Malformation syndrome 2138 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2138 46,XX ovotesticular difference of sex development Malformation syndrome 393 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=393 46,XX testicular difference of sex development Malformation syndrome 444048 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444048 46,XX ovarian dysgenesis-short stature syndrome Disease 325109 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325109 Syndrome with 46,XX difference of sex development Category 991 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=991 PAGOD syndrome Malformation syndrome 2855 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2855 Perrault syndrome Disease 642945 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642945 Perrault syndrome type 1 Clinical subtype 642976 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642976 Perrault syndrome type 2 Clinical subtype 2973 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2973 46,XX difference of sex development-anorectal anomalies syndrome Malformation syndrome 2975 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2975 46,XX difference of sex development-skeletal anomalies syndrome Malformation syndrome 85112 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85112 Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome Disease 137631 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137631 Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome Disease 139466 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139466 SERKAL syndrome Malformation syndrome 247768 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247768 Müllerian aplasia and hyperandrogenism Malformation syndrome 98085 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98085 46,XY difference of sex development Category 49 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=49 Penile agenesis Morphological anomaly 98087 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98087 Syndrome with 46,XY difference of sex development Category 893 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=893 WAGR syndrome Malformation syndrome 1642 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1642 Distal deletion 9p syndrome Malformation syndrome 1770 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1770 XY type gonadal dysgenesis-associated anomalies syndrome Malformation syndrome 2983 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2983 Difference of sex development-intellectual disability syndrome Disease 1422 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1422 Chondrodysplasia-difference of sex development syndrome Malformation syndrome 847 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=847 X-linked alpha-thalassemia-intellectual disability syndrome Malformation syndrome 140 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140 Campomelic dysplasia Malformation syndrome 991 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=991 PAGOD syndrome Malformation syndrome 2282 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2282 Dysmorphism-short stature-deafness-difference of sex development syndrome Malformation syndrome 3097 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3097 Meacham syndrome Malformation syndrome 220 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220 Denys-Drash syndrome Disease 347 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=347 Frasier syndrome Disease 452 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=452 X-linked lissencephaly with abnormal genitalia Malformation syndrome 95700 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95700 Familial adrenal hypoplasia with absent pituitary luteinizing hormone Disease 168563 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168563 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome Malformation syndrome 168593 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168593 Sudden infant death-dysgenesis of the testes syndrome Malformation syndrome 456328 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=456328 X-linked myotubular myopathy-abnormal genitalia syndrome Disease 494433 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494433 MIRAGE syndrome Disease 2075 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2075 Genitopalatocardiac syndrome Malformation syndrome 325118 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325118 46,XY disorder of gonadal development Category 242 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=242 46,XY complete gonadal dysgenesis Malformation syndrome 983 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=983 Testicular regression syndrome Morphological anomaly 251510 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251510 46,XY partial gonadal dysgenesis Malformation syndrome 325124 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325124 Testicular agenesis Morphological anomaly 325345 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325345 46,XY ovotesticular difference of sex development Disease 325351 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325351 46,XY difference of sex development of endocrine origin Category 754 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=754 Androgen insensitivity syndrome Clinical group 90797 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90797 Partial androgen insensitivity syndrome Disease 99429 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99429 Complete androgen insensitivity syndrome Disease 2856 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2856 Persistent Müllerian duct syndrome Malformation syndrome 325357 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325357 46,XY difference of sex development due to impaired androgen production Category 755 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=755 Leydig cell hypoplasia Disease 96265 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96265 Leydig cell hypoplasia due to complete LH resistance Clinical subtype 96266 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96266 Leydig cell hypoplasia due to partial LH resistance Clinical subtype 325448 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325448 Leydig cell hypoplasia due to LHB deficiency Clinical subtype 90783 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90783 46,XY difference of sex development due to a testosterone synthesis defect Category 90786 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90786 46,XY difference of sex development due to adrenal and testicular steroidogenesis defect Category 90790 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90790 Congenital lipoid adrenal hyperplasia due to STAR deficency Disease 325524 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325524 Classic congenital lipoid adrenal hyperplasia due to STAR deficency Clinical subtype 325529 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325529 Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency Clinical subtype 90791 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90791 Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency Disease 90793 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90793 Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency Disease 95699 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency Disease 168558 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168558 46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency Disease 63269 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63269 Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis Clinical subtype 90787 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90787 46,XY difference of sex development due to testicular steroidogenesis defect Category 752 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=752 46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency Disease 90796 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90796 46,XY difference of sex development due to isolated 17,20-lyase deficiency Disease 325511 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325511 46,XY difference of sex development due to a cholesterol synthesis defect Category 818 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=818 Smith-Lemli-Opitz syndrome Malformation syndrome 98086 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98086 46,XY difference of sex development due to a defect in testosterone metabolism by peripheral tissue Category 753 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=753 46,XY difference of sex development due to 5-alpha-reductase 2 deficiency Disease 443090 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443090 46,XY difference of sexual development due to dihydrotestosterone backdoor pathway biosynthesis defect Category 443087 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443087 46,XY difference of sex development due to testicular 17,20-desmolase deficiency Disease 325537 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325537 46,XY difference of sex development induced by maternal exposure to endocrine disruptors Category 325546 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325546 Sex chromosome difference of sex development Category 881 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=881 Turner syndrome Malformation syndrome 99226 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99226 Monosomy X syndrome Etiological subtype 99228 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99228 Mosaic monosomy X syndrome Etiological subtype 99413 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99413 Turner syndrome due to structural X chromosome anomalies Etiological subtype 10 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=10 48,XXYY syndrome Malformation syndrome 1772 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1772 45,X/46,XY mixed gonadal dysgenesis Malformation syndrome 96263 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96263 48,XXXY syndrome Malformation syndrome 96264 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96264 49,XXXXY syndrome Malformation syndrome 199310 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199310 Tetragametic chimerism syndrome Malformation syndrome 182114 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182114 Rare urogenital tumor Category 98058 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98058 Rare urinary tract tumor Category 695023 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=695023 Pure squamous carcinoma of the urothelial tract Disease 695020 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=695020 Urachal carcinoma Disease 498228 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498228 Phyllodes tumor of the prostate Disease 598216 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=598216 Upper tract urothelial carcinoma Disease 1331 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1331 Familial prostate cancer Disease 284400 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284400 Small cell carcinoma of the bladder Disease 363472 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363472 Tumor of testis and paratestis Category 363478 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363478 Paratesticular adenocarcinoma Disease 363483 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363483 Testicular teratoma Disease 363489 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363489 Sex cord-stromal tumor of testis Disease 363504 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363504 Germ cell tumor of testis Category 842 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=842 Testicular seminomatous germ cell tumor Disease 99865 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99865 Spermatocytic seminoma Disease 363494 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363494 Non-seminomatous germ cell tumor of testis Disease 685010 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=685010 Mesothelioma of the tunica vaginalis Disease 206484 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206484 Gonadoblastoma Disease 398043 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398043 Malignant tumor of penis Category 398053 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398053 Adenocarcinoma of the penis Disease 398058 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398058 Squamous cell carcinoma of the penis Disease 404463 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404463 Multisystemic smooth muscle dysfunction syndrome Disease 140949 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140949 Low-flow priapism Particular clinical situation in a disease or syndrome