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- Rare gynecologic or obstetric disease ORPHA:96344
- Rare gynecological tumor ORPHA:98063
- Rare vulvovaginal tumor ORPHA:180312
- Vulvar intraepithelial neoplasia ORPHA:137583
- Vaginal carcinoma ORPHA:180247
- Malignant germ cell tumor of the vagina ORPHA:206489
- Vulvovaginal rhabdomyosarcoma ORPHA:206492
- Vulvar carcinoma ORPHA:494418
- Rare uterine cancer ORPHA:213564
- Rare cancer of corpus uteri ORPHA:213569
- Malignant mixed epithelial and mesenchymal tumor of corpus uteri ORPHA:213589
- Adenosarcoma of the corpus uteri ORPHA:213600
- Carcinofibroma of the corpus uteri ORPHA:213605
- Carcinosarcoma of the corpus uteri ORPHA:213610
- Sarcoma of the corpus uteri ORPHA:213620
- Rhabdomyosarcoma of the corpus uteri ORPHA:213615
- Leiomyosarcoma of the corpus uteri ORPHA:213625
- Primitive neuroectodermal tumor of the corpus uteri ORPHA:213630
- Endometrial stromal sarcoma ORPHA:213711
- Squamous cell carcinoma of the corpus uteri ORPHA:213716
- Undifferentiated carcinoma of the corpus uteri ORPHA:213721
- Serous carcinoma of the corpus uteri ORPHA:213726
- High-grade neuroendocrine carcinoma of the corpus uteri ORPHA:213731
- Low-grade neuroendocrine tumor of the corpus uteri ORPHA:213736
- Transitional cell carcinoma of the corpus uteri ORPHA:213746
- Malignant germ cell tumor of the corpus uteri ORPHA:213751
- Rare cancer of cervix uteri ORPHA:213761
- Squamous cell carcinoma of the cervix uteri ORPHA:213767
- Adenocarcinoma of the cervix uteri ORPHA:213772
- High-grade neuroendocrine carcinoma of the cervix uteri ORPHA:213777
- Malignant mixed epithelial and mesenchymal tumor of cervix uteri ORPHA:213782
- Sarcoma of cervix uteri ORPHA:213797
- Rhabdomyosarcoma of the cervix uteri ORPHA:213802
- Leiomyosarcoma of the cervix uteri ORPHA:213807
- Primitive neuroectodermal tumor of the cervix uteri ORPHA:213812
- Adenoid cystic carcinoma of the cervix uteri ORPHA:213823
- Adenoid basal carcinoma of the cervix uteri ORPHA:213828
- Glassy cell carcinoma of the cervix uteri ORPHA:213833
- Malignant germ cell tumor of the cervix uteri ORPHA:213837
- Gestational trophoblastic disease ORPHA:254685
- Gestational trophoblastic neoplasm ORPHA:59305
- Invasive mole ORPHA:99925
- Gestational choriocarcinoma ORPHA:99926
- Placental site trophoblastic tumor ORPHA:99928
- Epithelioid trophoblastic tumor ORPHA:254698
- Hydatidiform mole ORPHA:99927
- Extramammary Paget disease ORPHA:2800
- Rare uterine adnexal tumor ORPHA:180220
- Rare benign ovarian tumor ORPHA:97293
- Microcystic stromal tumor ORPHA:569248
- Cystadenoma of childhood ORPHA:206470
- Seromucinous cystadenoma of childhood ORPHA:563676
- Mucinous cystadenoma of childhood ORPHA:563671
- Serous cystadenoma of childhood ORPHA:563666
- Meigs syndrome ORPHA:314451
- Pseudo-Meigs syndrome ORPHA:314459
- Atypical Meigs syndrome ORPHA:314466
- Ovarian fibroma ORPHA:314473
- Ovarian fibrothecoma ORPHA:314478
- Benign tumor of fallopian tubes ORPHA:180237
- Malignant tumor of fallopian tubes ORPHA:180242
- Rare ovarian cancer ORPHA:213500
- Malignant epithelial tumor of ovary ORPHA:398934
- Adenocarcinoma of ovary ORPHA:213504
- Malignant mixed Müllerian tumor of the ovary ORPHA:213512
- Mucinous adenocarcinoma of ovary ORPHA:398961
- Clear cell adenocarcinoma of the ovary ORPHA:398971
- Endometrioid carcinoma of ovary ORPHA:454723
- Malignant non-epithelial tumor of ovary ORPHA:398940
- Small cell carcinoma of the ovary ORPHA:370396
- Malignant germ cell tumor of ovary ORPHA:35807
- Ovarian dysgerminoma ORPHA:99912
- Malignant non-dysgerminomatous germ cell tumor of ovary ORPHA:206538
- Primary non-gestational choriocarcinoma of ovary ORPHA:289356
- Malignant sex cord stromal tumor of ovary ORPHA:35808
- Gynandroblastoma ORPHA:99914
- Malignant granulosa cell tumor of the ovary ORPHA:99915
- Malignant Sertoli-Leydig cell tumor of the ovary ORPHA:99916
- Theca steroid-producing cell malignant tumor of ovary, not further specified ORPHA:99917
- Gonadoblastoma ORPHA:206484
- Malignant teratoma of ovary ORPHA:398987
- Rare breast tumor ORPHA:180250
- Rare benign breast tumor ORPHA:180253
- Rare malignant breast tumor ORPHA:180257
- Hereditary breast and/or ovarian cancer syndrome ORPHA:145
- Paget disease of the nipple ORPHA:180275
- Rare adenocarcinoma of the breast ORPHA:213528
- Metaplastic carcinoma of the breast ORPHA:213531
- Salivary gland type cancer of the breast ORPHA:213557
- Hereditary breast cancer ORPHA:227535
- Phyllodes tumor of the breast ORPHA:180261
- Rare disorder related with pregnancy, childbirth and puerperium ORPHA:163637
- Antiphospholipid syndrome ORPHA:80
- Rare disorder related to monochorionic twin pregnancy ORPHA:617307
- Rare disorder due to unbalanced inter-twin blood transfusion ORPHA:617310
- Twin to twin transfusion syndrome ORPHA:95431
- Twin anemia-polycythemia sequence ORPHA:617294
- Twin-reversed arterial perfusion sequence ORPHA:617297
- Rare disorder due to inadequate sharing of the placenta ORPHA:617313
- Amniotic fluid embolism ORPHA:617304
- Idiopathic pregnancy-associated osteoporosis ORPHA:647823
- Placenta accreta spectrum disorder ORPHA:662721
- Vasa previa ORPHA:662786
- Chronic intervillositis of unknown etiology ORPHA:615970
- Peripartum cardiomyopathy ORPHA:563
- Aromatase deficiency ORPHA:91
- Pruritic urticarial papules and plaques of pregnancy ORPHA:64745
- Intrahepatic cholestasis of pregnancy ORPHA:69665
- Hypertension due to gain-of-function mutations in the mineralocorticoid receptor ORPHA:88660
- Familial gestational hyperthyroidism ORPHA:99819
- Acute fatty liver of pregnancy ORPHA:243367
- Preeclampsia ORPHA:275555
- Malignancy diagnosed during pregnancy ORPHA:289385
- Placental insufficiency ORPHA:439167
- Postpartum psychosis ORPHA:443173
- HELLP syndrome ORPHA:244242
- Uterovaginal malformation ORPHA:180062
- 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
- Syndromic uterovaginal malformation ORPHA:180148
- Currarino syndrome ORPHA:1552
- PAGOD syndrome ORPHA:991
- Hand-foot-genital syndrome ORPHA:2438
- Müllerian duct anomalies-limb anomalies syndrome ORPHA:2491
- 46,XX difference of sex development-anorectal anomalies syndrome ORPHA:2973
- Meacham syndrome ORPHA:3097
- Double uterus-hemivagina-renal agenesis syndrome ORPHA:3411
- Rare vaginal malformation ORPHA:180151
- Rare breast malformation ORPHA:180163
- Excess breast volume or number ORPHA:180170
- Familial supernumerary nipples ORPHA:2456
- Familial juvenile hypertrophy of the breast ORPHA:180176
- Supernumerary breasts ORPHA:180182
- Mammary-digital-nail syndrome ORPHA:238744
- Deficient breast volume or number ORPHA:180173
- Rare non-malformative gynecologic or obstetric disease ORPHA:180199
- Extrapelvic endometriosis ORPHA:137820
- Rare non-malformative breast disease ORPHA:180202
- Rare non-malformative uterovaginal or vulvovaginal disease ORPHA:180205
- Vulvovaginal gingival syndrome ORPHA:83453
- Asherman syndrome ORPHA:137686
- Isolated anogenital granulomatosis ORPHA:692256
- Rare non-malformative uterine adnexal disease ORPHA:180303
- Anomaly of puberty or/and menstrual cycle ORPHA:180208
- Estrogen resistance syndrome ORPHA:785
- Rare acquired premature ovarian failure ORPHA:95709
- Rare non-acquired premature ovarian failure ORPHA:95710
- 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
- Ataxia-telangiectasia ORPHA:100
- Tetrasomy X syndrome ORPHA:9
- 46,XX gonadal dysgenesis ORPHA:243
- Trisomy X syndrome ORPHA:3375
- Perrault syndrome ORPHA:2855
- Aromatase deficiency ORPHA:91
- Osteosclerosis-ichthyosis-premature ovarian failure syndrome ORPHA:75325
- Classic galactosemia ORPHA:79239
- 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 17-alpha-hydroxylase deficiency ORPHA:90793
- X small rings syndrome ORPHA:96201
- Microcephalic primordial dwarfism-insulin resistance syndrome ORPHA:436182
- 46,XX ovarian dysgenesis-short stature syndrome ORPHA:444048
- Satoyoshi syndrome ORPHA:3130
- Blepharophimosis-ptosis-epicanthus inversus syndrome type 1 ORPHA:572354
- Fragile X-associated primary ovarian insufficiency ORPHA:642691
- Hyperandrogenism due to cortisone reductase deficiency ORPHA:168588
- Congenital hypogonadotropic hypogonadism ORPHA:174590
- Rare disorder with multisystemic involvement and congenital hypogonadotropic hypogonadism ORPHA:181387
- CHARGE syndrome ORPHA:138
- Prader-Willi syndrome ORPHA:739
- Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 ORPHA:98754
- Prader-Willi syndrome due to paternal 15q11q13 deletion ORPHA:98793
- Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 ORPHA:177901
- Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 ORPHA:177904
- Prader-Willi syndrome due to translocation ORPHA:177907
- Prader-Willi syndrome due to imprinting mutation ORPHA:177910
- Laurence-Moon syndrome ORPHA:2377
- Cerebellar ataxia-hypogonadism syndrome ORPHA:1173
- Ataxia-hypogonadism-choroidal dystrophy syndrome ORPHA:1180
- Cataract-intellectual disability-hypogonadism syndrome ORPHA:1387
- Hypogonadotropic hypogonadism-frontoparietal alopecia syndrome ORPHA:2230
- Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome ORPHA:2235
- Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome ORPHA:2250
- Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome ORPHA:2560
- Woodhouse-Sakati syndrome ORPHA:3464
- Kallmann syndrome-heart disease syndrome ORPHA:2326
- Bardet-Biedl syndrome ORPHA:110
- Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome ORPHA:88637
- ANE syndrome ORPHA:157954
- Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome ORPHA:293967
- Prader-Willi-like syndrome ORPHA:398073
- CPE-related Prader-Willi-like syndrome ORPHA:633028
- 6q16 microdeletion syndrome ORPHA:171829
- SIM1-related Prader-Willi-like syndrome ORPHA:398079
- Schaaf-Yang syndrome ORPHA:398069
- Brachytelephalangy-dysmorphism-Kallmann syndrome ORPHA:1295
- Polyendocrine-polyneuropathy syndrome ORPHA:453533
- Endocrinopathy with congenital hypogonadotropic hypogonadism as a major feature ORPHA:181390
- Obesity due to congenital leptin deficiency ORPHA:66628
- Obesity due to prohormone convertase I deficiency ORPHA:71528
- Non-acquired panhypopituitarism ORPHA:90695
- Combined pituitary hormone deficiencies, genetic forms ORPHA:95494
- Familial adrenal hypoplasia with absent pituitary luteinizing hormone ORPHA:95700
- X-linked adrenal hypoplasia congenita ORPHA:95702
- Obesity due to leptin receptor gene deficiency ORPHA:179494
- Isolated congenital hypogonadotropic hypogonadism ORPHA:238666
- Isolated follicle stimulating hormone deficiency ORPHA:52901
- Rare precocious puberty in female ORPHA:435561
- Rare central precocious puberty in female ORPHA:650070
- Genetic central precocious puberty in female ORPHA:650077
- Secondary central precocious puberty in female ORPHA:650082
- Rare peripheral precocious puberty in female ORPHA:650187
- Menstrual cycle-dependent periodic fever ORPHA:498251
- Difference of sex development of gynecological interest ORPHA:325620
- Gonadal dysgenesis of gynecological interest ORPHA:98074
- 46,XX gonadal dysgenesis ORPHA:243
- 46,XY complete gonadal dysgenesis ORPHA:242
- 45,X/46,XY mixed gonadal dysgenesis ORPHA:1772
- 46,XX ovotesticular difference of sex development ORPHA:2138
- 46,XY partial gonadal dysgenesis ORPHA:251510
- 46,XY ovotesticular difference of sex development ORPHA:325345
- 46,XX ovarian dysgenesis-short stature syndrome ORPHA:444048
- 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,XY difference of sex development of gynecological interest ORPHA:325632
- Androgen insensitivity syndrome ORPHA:754
- Partial androgen insensitivity syndrome ORPHA:90797
- Complete androgen insensitivity syndrome ORPHA:99429
- 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 defect in testosterone metabolism by peripheral tissue ORPHA:98086
- Syndrome with difference of sex development of gynecological interest ORPHA:325638
- 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
- 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
- Perrault syndrome ORPHA:2855
- 46,XX difference of sex development-skeletal anomalies syndrome ORPHA:2975
- Meacham syndrome ORPHA:3097
- Denys-Drash syndrome ORPHA:220
- Frasier syndrome ORPHA:347
- Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome ORPHA:85112
- Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome ORPHA:137631
- 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome ORPHA:168563
- Tetragametic chimerism syndrome ORPHA:199310
- Müllerian aplasia and hyperandrogenism ORPHA:247768