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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
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
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
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
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
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
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
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
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
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
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
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
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
449291
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=449291
Symptomatic form of fragile X syndrome in female carriers
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
MAGEL2-related Prader-Willi-like 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
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
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
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
Malformation syndrome
247768
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247768
Müllerian aplasia and hyperandrogenism
Malformation syndrome