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- Rare urogenital disease ORPHA:101433
- Isolated anogenital granulomatosis ORPHA:692256
- Fowler urethral sphincter dysfunction syndrome ORPHA:2795
- Interstitial cystitis ORPHA:37202
- Urogenital tract malformation ORPHA:83001
- Non-syndromic urogenital tract malformation ORPHA:165704
- Non-syndromic urogenital tract malformation of female ORPHA:182117
- Non-syndromic uterovaginal malformation ORPHA:180065
- Diethylstilbestrol syndrome ORPHA:1916
- Müllerian aplasia ORPHA:73217
- Partial bilateral aplasia of the Müllerian ducts ORPHA:180068
- Mayer-Rokitansky-Küster-Hauser syndrome ORPHA:3109
- Mayer-Rokitansky-Küster-Hauser syndrome type 2 ORPHA:2578
- Mayer-Rokitansky-Küster-Hauser syndrome type 1 ORPHA:247775
- Müllerian aplasia and hyperandrogenism ORPHA:247768
- Unilateral aplasia of the Müllerian ducts ORPHA:180071
- Septate uterus ORPHA:180122
- Bicornuate uterus ORPHA:180134
- Didelphys uterus ORPHA:180086
- Bicervical bicornuate uterus and blind hemivagina ORPHA:180106
- Bicervical bicornuate uterus with patent cervix and vagina ORPHA:180111
- Unicervical bicornuate uterus ORPHA:180114
- Uterine hypoplasia ORPHA:180139
- Absence of uterine body ORPHA:180142
- Uterine cervical aplasia and agenesis ORPHA:180145
- Rare vaginal malformation ORPHA:180151
- Vaginal atresia ORPHA:65681
- Isolated partial vaginal agenesis ORPHA:96269
- Septate vagina ORPHA:180154
- Isolated female hypospadias ORPHA:603515
- Isolated persistent urogenital sinus ORPHA:647794
- Non-syndromic urogenital tract malformation of male ORPHA:182121
- Congenital bilateral absence of vas deferens ORPHA:48
- Penoscrotal transposition ORPHA:2842
- Penile agenesis ORPHA:49
- Diphallia ORPHA:227
- Non-syndromic posterior hypospadias ORPHA:95706
- Idiopathic isolated micropenis ORPHA:95707
- Congenital agenesis of the scrotum ORPHA:495879
- Non-syndromic urogenital tract malformation of male and female ORPHA:182124
- Exstrophy-epispadias complex ORPHA:322
- Duplication of urethra ORPHA:237
- Congenital primary megaureter ORPHA:617
- Primary megaureter, adult-onset form ORPHA:238642
- Congenital primary megaureter, obstructed form ORPHA:238646
- Congenital primary megaureter, refluxing form ORPHA:238650
- Congenital primary megaureter, nonrefluxing and unobstructed form ORPHA:238654
- Congenital primary megaureter, refluxing and obstructed form ORPHA:544578
- Familial vesicoureteral reflux ORPHA:289365
- Fetal lower urinary tract obstruction ORPHA:435365
- Prune belly syndrome ORPHA:2970
- Atresia of urethra ORPHA:105
- Posterior urethral valve ORPHA:93110
- Anterior urethral valve ORPHA:435372
- Congenital urachal anomaly ORPHA:435743
- Syndromic urogenital tract malformation ORPHA:165707
- Turner syndrome ORPHA:881
- Monosomy X syndrome ORPHA:99226
- Mosaic monosomy X syndrome ORPHA:99228
- Turner syndrome due to structural X chromosome anomalies ORPHA:99413
- CHARGE syndrome ORPHA:138
- Aarskog-Scott syndrome ORPHA:915
- Lethal hemolytic anemia-genital anomalies syndrome ORPHA:1046
- Caudal regression-sirenomelia spectrum ORPHA:444941
- 48,XXYY syndrome ORPHA:10
- Spina bifida-hypospadias syndrome ORPHA:3176
- Abruzzo-Erickson syndrome ORPHA:921
- Branchioskeletogenital syndrome ORPHA:1299
- Autosomal recessive faciodigitogenital syndrome ORPHA:1974
- Hypertelorism-hypospadias-polysyndactyly syndrome ORPHA:2211
- Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome ORPHA:2252
- Hypospadias-intellectual disability, Goldblatt type syndrome ORPHA:2261
- Schilbach-Rott syndrome ORPHA:2353
- Czeizel-Losonci syndrome ORPHA:2437
- Lower limb malformation-hypospadias syndrome ORPHA:2487
- Müllerian duct anomalies-limb anomalies syndrome ORPHA:2491
- Nephrosis-deafness-urinary tract-digital malformations syndrome ORPHA:2669
- Guttmacher syndrome ORPHA:2957
- Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome ORPHA:3224
- Torticollis-keloids-cryptorchidism-renal dysplasia syndrome ORPHA:3341
- Opitz GBBB syndrome ORPHA:2745
- Double uterus-hemivagina-renal agenesis syndrome ORPHA:3411
- IMAGe syndrome ORPHA:85173
- Müllerian derivatives-lymphangiectasia-polydactyly syndrome ORPHA:1655
- 48,XXXY syndrome ORPHA:96263
- 49,XXXXY syndrome ORPHA:96264
- 48,XYYY syndrome ORPHA:99329
- 8p23.1 microdeletion syndrome ORPHA:251071
- ARX-related encephalopathy-brain malformation spectrum ORPHA:423655
- Corpus callosum agenesis-abnormal genitalia syndrome ORPHA:2508
- X-linked lissencephaly with abnormal genitalia ORPHA:452
- Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome ORPHA:439897
- Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome ORPHA:500135
- Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome ORPHA:495875
- B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome ORPHA:567502
- Neurooculocardiogenitourinary syndrome ORPHA:684305
- KAT6B-related multiple congenital anomalies syndrome ORPHA:597749
- Blepharophimosis-intellectual disability syndrome, SBBYS type ORPHA:3047
- Genitopatellar syndrome ORPHA:85201
- Blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome ORPHA:597746
- SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome ORPHA:597743
- Hinman syndrome ORPHA:84085
- Difference of sex development ORPHA:90771
- 46,XX difference of sex development ORPHA:2982
- 46,XX difference of sex development induced by androgens excess ORPHA:98078
- 46,XX difference of sex development induced by fetal androgens excess ORPHA:90776
- Generalized glucocorticoid resistance syndrome ORPHA:786
- Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency ORPHA:90791
- Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency ORPHA:90794
- Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form ORPHA:315306
- Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form ORPHA:315311
- Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency ORPHA:90795
- Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency ORPHA:95699
- Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis ORPHA:63269
- 46,XX difference of sex development induced by maternal-derived androgen ORPHA:91144
- 46,XX difference of sex development induced by endogenous maternal-derived androgen ORPHA:325093
- 46,XX difference of sex development induced by exogenous maternal-derived androgen ORPHA:325099
- 46,XX difference of sex development induced by fetoplacental androgens excess ORPHA:325061
- 46,XX disorder of gonadal development ORPHA:325055
- 46,XX gonadal dysgenesis ORPHA:243
- 46,XX ovotesticular difference of sex development ORPHA:2138
- 46,XX testicular difference of sex development ORPHA:393
- 46,XX ovarian dysgenesis-short stature syndrome ORPHA:444048
- Syndrome with 46,XX difference of sex development ORPHA:325109
- PAGOD syndrome ORPHA:991
- Perrault syndrome ORPHA:2855
- 46,XX difference of sex development-anorectal anomalies syndrome ORPHA:2973
- 46,XX difference of sex development-skeletal anomalies syndrome ORPHA:2975
- Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome ORPHA:85112
- Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome ORPHA:137631
- SERKAL syndrome ORPHA:139466
- Müllerian aplasia and hyperandrogenism ORPHA:247768
- 46,XY difference of sex development ORPHA:98085
- Penile agenesis ORPHA:49
- Syndrome with 46,XY difference of sex development ORPHA:98087
- WAGR syndrome ORPHA:893
- Distal deletion 9p syndrome ORPHA:1642
- XY type gonadal dysgenesis-associated anomalies syndrome ORPHA:1770
- Difference of sex development-intellectual disability syndrome ORPHA:2983
- Chondrodysplasia-difference of sex development syndrome ORPHA:1422
- X-linked alpha-thalassemia-intellectual disability syndrome ORPHA:847
- Campomelic dysplasia ORPHA:140
- PAGOD syndrome ORPHA:991
- Dysmorphism-short stature-deafness-difference of sex development syndrome ORPHA:2282
- Meacham syndrome ORPHA:3097
- Denys-Drash syndrome ORPHA:220
- Frasier syndrome ORPHA:347
- X-linked lissencephaly with abnormal genitalia ORPHA:452
- Familial adrenal hypoplasia with absent pituitary luteinizing hormone ORPHA:95700
- 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome ORPHA:168563
- Sudden infant death-dysgenesis of the testes syndrome ORPHA:168593
- X-linked myotubular myopathy-abnormal genitalia syndrome ORPHA:456328
- MIRAGE syndrome ORPHA:494433
- Genitopalatocardiac syndrome ORPHA:2075
- 46,XY disorder of gonadal development ORPHA:325118
- 46,XY complete gonadal dysgenesis ORPHA:242
- Testicular regression syndrome ORPHA:983
- 46,XY partial gonadal dysgenesis ORPHA:251510
- Testicular agenesis ORPHA:325124
- 46,XY ovotesticular difference of sex development ORPHA:325345
- 46,XY difference of sex development of endocrine origin ORPHA:325351
- Androgen insensitivity syndrome ORPHA:754
- Partial androgen insensitivity syndrome ORPHA:90797
- Complete androgen insensitivity syndrome ORPHA:99429
- Persistent Müllerian duct syndrome ORPHA:2856
- 46,XY difference of sex development due to impaired androgen production ORPHA:325357
- Leydig cell hypoplasia ORPHA:755
- Leydig cell hypoplasia due to complete LH resistance ORPHA:96265
- Leydig cell hypoplasia due to partial LH resistance ORPHA:96266
- Leydig cell hypoplasia due to LHB deficiency ORPHA:325448
- 46,XY difference of sex development due to a testosterone synthesis defect ORPHA:90783
- 46,XY difference of sex development due to adrenal and testicular steroidogenesis defect ORPHA:90786
- Congenital lipoid adrenal hyperplasia due to STAR deficency ORPHA:90790
- Classic congenital lipoid adrenal hyperplasia due to STAR deficency ORPHA:325524
- Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency ORPHA:325529
- Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency ORPHA:90791
- Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency ORPHA:90793
- Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency ORPHA:95699
- 46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency ORPHA:168558
- Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis ORPHA:63269
- 46,XY difference of sex development due to testicular steroidogenesis defect ORPHA:90787
- 46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency ORPHA:752
- 46,XY difference of sex development due to isolated 17,20-lyase deficiency ORPHA:90796
- 46,XY difference of sex development due to a cholesterol synthesis defect ORPHA:325511
- 46,XY difference of sex development due to a defect in testosterone metabolism by peripheral tissue ORPHA:98086
- 46,XY difference of sexual development due to dihydrotestosterone backdoor pathway biosynthesis defect ORPHA:443090
- 46,XY difference of sex development induced by maternal exposure to endocrine disruptors ORPHA:325537
- Sex chromosome difference of sex development ORPHA:325546
- Turner syndrome ORPHA:881
- Monosomy X syndrome ORPHA:99226
- Mosaic monosomy X syndrome ORPHA:99228
- Turner syndrome due to structural X chromosome anomalies ORPHA:99413
- 48,XXYY syndrome ORPHA:10
- 45,X/46,XY mixed gonadal dysgenesis ORPHA:1772
- 48,XXXY syndrome ORPHA:96263
- 49,XXXXY syndrome ORPHA:96264
- Tetragametic chimerism syndrome ORPHA:199310
- Rare urogenital tumor ORPHA:182114
- Rare urinary tract tumor ORPHA:98058
- Phyllodes tumor of the prostate ORPHA:498228
- Upper tract urothelial carcinoma ORPHA:598216
- Familial prostate cancer ORPHA:1331
- Non-papillary transitional cell carcinoma of the bladder ORPHA:209989
- Small cell carcinoma of the bladder ORPHA:284400
- Tumor of testis and paratestis ORPHA:363472
- Paratesticular adenocarcinoma ORPHA:363478
- Testicular teratoma ORPHA:363483
- Sex cord-stromal tumor of testis ORPHA:363489
- Germ cell tumor of testis ORPHA:363504
- Testicular seminomatous germ cell tumor ORPHA:842
- Spermatocytic seminoma ORPHA:99865
- Non-seminomatous germ cell tumor of testis ORPHA:363494
- Mesothelioma of the tunica vaginalis ORPHA:685010
- Gonadoblastoma ORPHA:206484
- Malignant tumor of penis ORPHA:398043
- Multisystemic smooth muscle dysfunction syndrome ORPHA:404463
- Low-flow priapism ORPHA:140949