Creative Commons Attribution 4.0 International CC-BY-4.0 https://creativecommons.org/licenses/by/4.0/legalcode 162982 Orphanet classification of rare gynecological and obstetric diseases 96344 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96344 Rare gynecologic or obstetric disease Category 98063 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98063 Rare gynecological tumor Category 180312 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180312 Rare vulvovaginal tumor Category 137583 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137583 Vulvar intraepithelial neoplasia Disease 180247 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180247 Vaginal carcinoma Disease 206489 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206489 Malignant germ cell tumor of the vagina Disease 206492 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206492 Vulvovaginal rhabdomyosarcoma Disease 494418 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494418 Vulvar carcinoma Disease 494448 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494448 Vulvar squamous cell carcinoma Histopathological subtype 494451 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494451 Vulvar basal cell carcinoma Histopathological subtype 494454 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494454 Vulvar adenocarcinoma Histopathological subtype 213564 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213564 Rare uterine cancer Category 213569 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213569 Rare cancer of corpus uteri Category 213589 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213589 Malignant mixed epithelial and mesenchymal tumor of corpus uteri Clinical group 213600 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213600 Adenosarcoma of the corpus uteri Disease 213605 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213605 Carcinofibroma of the corpus uteri Disease 213610 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213610 Carcinosarcoma of the corpus uteri Disease 213620 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213620 Sarcoma of the corpus uteri Clinical group 213615 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213615 Rhabdomyosarcoma of the corpus uteri Disease 213625 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213625 Leiomyosarcoma of the corpus uteri Disease 213630 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213630 Primitive neuroectodermal tumor of the corpus uteri Disease 213711 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213711 Endometrial stromal sarcoma Disease 213716 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213716 Squamous cell carcinoma of the corpus uteri Disease 213721 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213721 Undifferentiated carcinoma of the corpus uteri Disease 213726 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213726 Serous carcinoma of the corpus uteri Disease 213731 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213731 High-grade neuroendocrine carcinoma of the corpus uteri Disease 213736 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213736 Low-grade neuroendocrine tumor of the corpus uteri Disease 213746 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213746 Transitional cell carcinoma of the corpus uteri Disease 213751 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213751 Malignant germ cell tumor of the corpus uteri Disease 213761 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213761 Rare cancer of cervix uteri Category 213767 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213767 Squamous cell carcinoma of the cervix uteri Disease 213772 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213772 Adenocarcinoma of the cervix uteri Disease 213777 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213777 High-grade neuroendocrine carcinoma of the cervix uteri Disease 213782 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213782 Malignant mixed epithelial and mesenchymal tumor of cervix uteri Clinical group 213787 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213787 Carcinosarcoma of the cervix uteri Disease 213792 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213792 Adenosarcoma of the cervix uteri Disease 213797 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213797 Sarcoma of cervix uteri Clinical group 213802 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213802 Rhabdomyosarcoma of the cervix uteri Disease 213807 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213807 Leiomyosarcoma of the cervix uteri Disease 213812 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213812 Primitive neuroectodermal tumor of the cervix uteri Disease 213823 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213823 Adenoid cystic carcinoma of the cervix uteri Disease 213828 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213828 Adenoid basal carcinoma of the cervix uteri Disease 213833 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213833 Glassy cell carcinoma of the cervix uteri Disease 213837 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213837 Malignant germ cell tumor of the cervix uteri Disease 254685 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254685 Gestational trophoblastic disease Category 59305 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=59305 Gestational trophoblastic neoplasm Clinical group 99925 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99925 Invasive mole Disease 99926 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99926 Gestational choriocarcinoma Disease 99928 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99928 Placental site trophoblastic tumor Disease 254698 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254698 Epithelioid trophoblastic tumor Disease 99927 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99927 Hydatidiform mole Disease 254688 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254688 Complete hydatidiform mole Clinical subtype 254693 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254693 Partial hydatidiform mole Clinical subtype 2800 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2800 Extramammary Paget disease Disease 180220 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180220 Rare uterine adnexal tumor Category 97293 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97293 Rare benign ovarian tumor Category 569248 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=569248 Microcystic stromal tumor Disease 206470 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206470 Cystadenoma of childhood Disease 563676 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=563676 Seromucinous cystadenoma of childhood Histopathological subtype 563671 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=563671 Mucinous cystadenoma of childhood Histopathological subtype 563666 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=563666 Serous cystadenoma of childhood Histopathological subtype 314451 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314451 Meigs syndrome Clinical syndrome 314459 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314459 Pseudo-Meigs syndrome Clinical syndrome 314466 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314466 Atypical Meigs syndrome Clinical syndrome 314473 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314473 Ovarian fibroma Disease 314478 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314478 Ovarian fibrothecoma Disease 180237 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180237 Benign tumor of fallopian tubes Disease 180242 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180242 Malignant tumor of fallopian tubes Disease 213500 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213500 Rare ovarian cancer Category 398934 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398934 Malignant epithelial tumor of ovary Category 213504 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213504 Adenocarcinoma of ovary Disease 213512 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213512 Malignant mixed Müllerian tumor of the ovary Disease 398961 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398961 Mucinous adenocarcinoma of ovary Disease 398971 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398971 Clear cell adenocarcinoma of the ovary Disease 454723 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=454723 Endometrioid carcinoma of ovary Disease 398940 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398940 Malignant non-epithelial tumor of ovary Category 370396 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370396 Small cell carcinoma of the ovary Disease 35807 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35807 Malignant germ cell tumor of ovary Category 99912 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99912 Ovarian dysgerminoma Disease 206538 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206538 Malignant non-dysgerminomatous germ cell tumor of ovary Disease 289356 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289356 Primary non-gestational choriocarcinoma of ovary Disease 35808 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35808 Malignant sex cord stromal tumor of ovary Category 99914 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99914 Gynandroblastoma Disease 99915 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99915 Malignant granulosa cell tumor of the ovary Disease 99916 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99916 Malignant Sertoli-Leydig cell tumor of the ovary Disease 99917 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99917 Theca steroid-producing cell malignant tumor of ovary, not further specified Disease 206484 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206484 Gonadoblastoma Disease 398987 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398987 Malignant teratoma of ovary Disease 696830 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=696830 Female adnexal tumor of probable Wolffian origin Disease 180250 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180250 Rare breast tumor Category 180253 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180253 Rare benign breast tumor Category 180261 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180261 Phyllodes tumor of the breast Disease 180267 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180267 Giant adenofibroma of the breast Disease 180257 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180257 Rare malignant breast tumor Category 145 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=145 Hereditary breast and/or ovarian cancer syndrome Disease 180275 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180275 Paget disease of the nipple Disease 213528 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213528 Rare adenocarcinoma of the breast Disease 213531 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213531 Metaplastic carcinoma of the breast Disease 213557 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213557 Salivary gland type cancer of the breast Disease 227535 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=227535 Hereditary breast cancer Disease 694963 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=694963 Inflammatory breast cancer Disease 180261 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180261 Phyllodes tumor of the breast Disease 163637 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163637 Rare disorder related with pregnancy, childbirth and puerperium Category 80 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=80 Antiphospholipid syndrome Disease 617307 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=617307 Rare disorder related to monochorionic twin pregnancy Category 617310 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=617310 Rare disorder due to unbalanced inter-twin blood transfusion Category 95431 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95431 Twin to twin transfusion syndrome Disease 617294 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=617294 Twin anemia-polycythemia sequence Disease 617297 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=617297 Twin-reversed arterial perfusion sequence Disease 617313 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=617313 Rare disorder due to inadequate sharing of the placenta Category 617301 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=617301 Selective intrauterine growth restriction Disease 617304 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=617304 Amniotic fluid embolism Disease 647823 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=647823 Idiopathic pregnancy-associated osteoporosis Disease 662721 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662721 Placenta accreta spectrum disorder Disease 662786 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662786 Vasa previa Disease 615970 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=615970 Chronic intervillositis of unknown etiology Disease 563 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=563 Peripartum cardiomyopathy Disease 91 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91 Aromatase deficiency Disease 64745 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64745 Pruritic urticarial papules and plaques of pregnancy Disease 69665 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69665 Intrahepatic cholestasis of pregnancy Disease 88660 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88660 Hypertension due to gain-of-function mutations in the mineralocorticoid receptor Disease 99819 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99819 Familial gestational hyperthyroidism Disease 243367 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=243367 Acute fatty liver of pregnancy Disease 275555 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275555 Preeclampsia Disease 289385 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289385 Malignancy diagnosed during pregnancy Particular clinical situation in a disease or syndrome 439167 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439167 Placental insufficiency Clinical syndrome 443173 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443173 Postpartum psychosis Disease 244242 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=244242 HELLP syndrome Disease 180062 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180062 Uterovaginal malformation 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 180148 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180148 Syndromic uterovaginal malformation Category 1552 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1552 Currarino syndrome Malformation syndrome 991 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=991 PAGOD syndrome Malformation syndrome 2438 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2438 Hand-foot-genital 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 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 3097 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3097 Meacham 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 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 180163 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180163 Rare breast malformation Category 180170 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180170 Excess breast volume or number Category 2456 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2456 Familial supernumerary nipples Morphological anomaly 180176 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180176 Familial juvenile hypertrophy of the breast Morphological anomaly 180182 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180182 Supernumerary breasts Morphological anomaly 238744 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238744 Mammary-digital-nail syndrome Malformation syndrome 180173 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180173 Deficient breast volume or number Category 2036 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2036 Scalp-ear-nipple syndrome Malformation syndrome 3138 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3138 Ulnar-mammary syndrome Malformation syndrome 64755 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64755 Becker nevus syndrome Disease 69085 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69085 Limb-mammary syndrome Malformation syndrome 180188 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180188 Isolated congenital breast hypoplasia/aplasia Morphological anomaly 180193 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180193 Syndromic breast hypoplasia/aplasia Category 1521 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1521 Craniofrontonasal dysplasia-Poland anomaly syndrome Malformation syndrome 2911 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2911 Poland syndrome Malformation syndrome 180199 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180199 Rare non-malformative gynecologic or obstetric disease Category 137820 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137820 Extrapelvic endometriosis Disease 180202 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180202 Rare non-malformative breast disease Category 64722 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64722 Granulomatous mastitis Disease 653698 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=653698 Lymphocytic mastitis Disease 180205 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180205 Rare non-malformative uterovaginal or vulvovaginal disease Category 83453 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83453 Vulvovaginal gingival syndrome Disease 137686 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137686 Asherman syndrome Disease 692256 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=692256 Isolated anogenital granulomatosis Disease 180303 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180303 Rare non-malformative uterine adnexal disease Category 64739 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64739 Ovarian hyperstimulation syndrome Disease 180208 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180208 Anomaly of puberty or/and menstrual cycle Category 785 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=785 Estrogen resistance syndrome Disease 95709 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95709 Rare acquired premature ovarian failure Category 3143 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3143 Autoimmune polyendocrinopathy type 2 Disease 3453 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3453 Autoimmune polyendocrinopathy type 1 Disease 95710 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95710 Rare non-acquired premature ovarian failure 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 100 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100 Ataxia-telangiectasia Disease 9 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=9 Tetrasomy X syndrome Malformation syndrome 243 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=243 46,XX gonadal dysgenesis Malformation syndrome 3375 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3375 Trisomy X 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 91 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91 Aromatase deficiency Disease 75325 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75325 Osteosclerosis-ichthyosis-premature ovarian failure syndrome Disease 79239 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79239 Classic galactosemia Disease 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 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 96201 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96201 X small rings syndrome Malformation syndrome 436182 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436182 Microcephalic primordial dwarfism-insulin resistance syndrome 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 3130 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3130 Satoyoshi syndrome Disease 572354 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572354 Blepharophimosis-ptosis-epicanthus inversus syndrome type 1 Clinical subtype 642691 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642691 Fragile X-associated primary ovarian insufficiency Disease 168588 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168588 Hyperandrogenism due to cortisone reductase deficiency Malformation syndrome 174590 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=174590 Congenital hypogonadotropic hypogonadism Category 181387 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=181387 Rare disorder with multisystemic involvement and congenital hypogonadotropic hypogonadism Category 138 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=138 CHARGE syndrome Malformation syndrome 739 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=739 Prader-Willi syndrome Disease 98754 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 Etiological subtype 98793 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98793 Prader-Willi syndrome due to paternal 15q11q13 deletion Etiological subtype 177901 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 Etiological subtype 177904 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 Etiological subtype 177907 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177907 Prader-Willi syndrome due to translocation Etiological subtype 177910 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177910 Prader-Willi syndrome due to imprinting mutation Etiological subtype 2377 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2377 Laurence-Moon syndrome Malformation syndrome 1173 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1173 Cerebellar ataxia-hypogonadism syndrome Disease 1180 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1180 Ataxia-hypogonadism-choroidal dystrophy syndrome Disease 1387 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1387 Cataract-intellectual disability-hypogonadism syndrome Malformation syndrome 2230 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2230 Hypogonadotropic hypogonadism-frontoparietal alopecia syndrome Disease 2235 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2235 Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome Disease 2250 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2250 Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome Disease 2560 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2560 Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome Malformation syndrome 3464 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3464 Woodhouse-Sakati syndrome Disease 2326 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2326 Kallmann syndrome-heart disease syndrome Malformation syndrome 110 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=110 Bardet-Biedl syndrome Disease 88637 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88637 Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome Clinical subtype 157954 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157954 ANE syndrome Disease 293967 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293967 Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome Malformation syndrome 398073 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398073 Prader-Willi-like syndrome Clinical group 633028 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=633028 CPE-related Prader-Willi-like syndrome Disease 171829 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171829 6q16 microdeletion syndrome Disease 398079 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398079 SIM1-related Prader-Willi-like syndrome Disease 398069 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398069 Schaaf-Yang syndrome Disease 1295 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1295 Brachytelephalangy-dysmorphism-Kallmann syndrome Malformation syndrome 453533 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=453533 Polyendocrine-polyneuropathy syndrome Disease 181390 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=181390 Endocrinopathy with congenital hypogonadotropic hypogonadism as a major feature Category 66628 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66628 Obesity due to congenital leptin deficiency Etiological subtype 71528 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71528 Obesity due to prohormone convertase I deficiency Etiological subtype 90695 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90695 Non-acquired panhypopituitarism Disease 95494 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95494 Combined pituitary hormone deficiencies, genetic forms Disease 95700 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95700 Familial adrenal hypoplasia with absent pituitary luteinizing hormone Disease 95702 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95702 X-linked adrenal hypoplasia congenita Disease 179494 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=179494 Obesity due to leptin receptor gene deficiency Etiological subtype 238666 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238666 Isolated congenital hypogonadotropic hypogonadism Disease 478 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=478 Kallmann syndrome Clinical subtype 432 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=432 Normosmic congenital hypogonadotropic hypogonadism Clinical subtype 52901 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52901 Isolated follicle stimulating hormone deficiency Disease 435561 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435561 Rare precocious puberty in female Category 650070 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=650070 Rare central precocious puberty in female Clinical group 650077 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=650077 Genetic central precocious puberty in female Disease 650082 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=650082 Secondary central precocious puberty in female Disease 650187 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=650187 Rare peripheral precocious puberty in female Clinical group 562 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=562 McCune-Albright syndrome Disease 178345 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178345 Aromatase excess syndrome Disease 498251 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498251 Menstrual cycle-dependent periodic fever Disease 325620 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325620 Difference of sex development of gynecological interest Category 98074 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98074 Gonadal dysgenesis of gynecological interest Category 243 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=243 46,XX gonadal dysgenesis Malformation syndrome 242 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=242 46,XY complete gonadal dysgenesis 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 2138 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2138 46,XX ovotesticular difference of sex development Malformation syndrome 251510 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251510 46,XY partial gonadal dysgenesis Malformation syndrome 325345 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325345 46,XY ovotesticular difference of sex development Disease 444048 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444048 46,XX ovarian dysgenesis-short stature syndrome Disease 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 325632 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325632 46,XY difference of sex development of gynecological interest 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 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 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 325638 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325638 Syndrome with difference of sex development of gynecological interest 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 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 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 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 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 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 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 199310 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199310 Tetragametic chimerism syndrome Malformation syndrome 247768 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247768 Müllerian aplasia and hyperandrogenism Malformation syndrome