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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
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
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
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
Etiological subtype
99228
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99228
Mosaic monosomy X
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
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
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
Alpha-thalassemia-X-linked 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
Etiological subtype
99228
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99228
Mosaic monosomy X
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
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
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
209989
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209989
Non-papillary transitional cell carcinoma of the bladder
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
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