Orphanet classification: Rare gynecologic or obstetric disease (ORPHA:96344)
Disorder type: Category
Subcategories and diseases:
Name: Rare gynecological tumor
OrphaCode: 98063
DisorderType: Category
Children: Name: Rare vulvovaginal tumor
OrphaCode: 180312
DisorderType: Category
Children: Name: Vulvar intraepithelial neoplasia
OrphaCode: 137583
DisorderType: Disease
Name: Vaginal carcinoma
OrphaCode: 180247
DisorderType: Disease
Name: Malignant germ cell tumor of the vagina
OrphaCode: 206489
DisorderType: Disease
Name: Vulvovaginal rhabdomyosarcoma
OrphaCode: 206492
DisorderType: Disease
Name: Vulvar carcinoma
OrphaCode: 494418
DisorderType: Disease
Children: Name: Vulvar squamous cell carcinoma
OrphaCode: 494448
DisorderType: Histopathological subtype
Name: Vulvar basal cell carcinoma
OrphaCode: 494451
DisorderType: Histopathological subtype
Name: Vulvar adenocarcinoma
OrphaCode: 494454
DisorderType: Histopathological subtype
Name: Rare uterine cancer
OrphaCode: 213564
DisorderType: Category
Children: Name: Rare cancer of corpus uteri
OrphaCode: 213569
DisorderType: Category
Children: Name: Malignant mixed epithelial and mesenchymal tumor of corpus uteri
OrphaCode: 213589
DisorderType: Clinical group
Children: Name: Adenosarcoma of the corpus uteri
OrphaCode: 213600
DisorderType: Disease
Name: Carcinofibroma of the corpus uteri
OrphaCode: 213605
DisorderType: Disease
Name: Carcinosarcoma of the corpus uteri
OrphaCode: 213610
DisorderType: Disease
Name: Sarcoma of the corpus uteri
OrphaCode: 213620
DisorderType: Clinical group
Children: Name: Rhabdomyosarcoma of the corpus uteri
OrphaCode: 213615
DisorderType: Disease
Name: Leiomyosarcoma of the corpus uteri
OrphaCode: 213625
DisorderType: Disease
Name: Primitive neuroectodermal tumor of the corpus uteri
OrphaCode: 213630
DisorderType: Disease
Name: Endometrial stromal sarcoma
OrphaCode: 213711
DisorderType: Disease
Name: Squamous cell carcinoma of the corpus uteri
OrphaCode: 213716
DisorderType: Disease
Name: Undifferentiated carcinoma of the corpus uteri
OrphaCode: 213721
DisorderType: Disease
Name: Serous carcinoma of the corpus uteri
OrphaCode: 213726
DisorderType: Disease
Name: High-grade neuroendocrine carcinoma of the corpus uteri
OrphaCode: 213731
DisorderType: Disease
Name: Low-grade neuroendocrine tumor of the corpus uteri
OrphaCode: 213736
DisorderType: Disease
Name: Transitional cell carcinoma of the corpus uteri
OrphaCode: 213746
DisorderType: Disease
Name: Malignant germ cell tumor of the corpus uteri
OrphaCode: 213751
DisorderType: Disease
Name: Rare cancer of cervix uteri
OrphaCode: 213761
DisorderType: Category
Children: Name: Squamous cell carcinoma of the cervix uteri
OrphaCode: 213767
DisorderType: Disease
Name: Adenocarcinoma of the cervix uteri
OrphaCode: 213772
DisorderType: Disease
Name: High-grade neuroendocrine carcinoma of the cervix uteri
OrphaCode: 213777
DisorderType: Disease
Name: Malignant mixed epithelial and mesenchymal tumor of cervix uteri
OrphaCode: 213782
DisorderType: Clinical group
Children: Name: Carcinosarcoma of the cervix uteri
OrphaCode: 213787
DisorderType: Disease
Name: Adenosarcoma of the cervix uteri
OrphaCode: 213792
DisorderType: Disease
Name: Sarcoma of cervix uteri
OrphaCode: 213797
DisorderType: Clinical group
Children: Name: Rhabdomyosarcoma of the cervix uteri
OrphaCode: 213802
DisorderType: Disease
Name: Leiomyosarcoma of the cervix uteri
OrphaCode: 213807
DisorderType: Disease
Name: Primitive neuroectodermal tumor of the cervix uteri
OrphaCode: 213812
DisorderType: Disease
Name: Adenoid cystic carcinoma of the cervix uteri
OrphaCode: 213823
DisorderType: Disease
Name: Adenoid basal carcinoma of the cervix uteri
OrphaCode: 213828
DisorderType: Disease
Name: Glassy cell carcinoma of the cervix uteri
OrphaCode: 213833
DisorderType: Disease
Name: Malignant germ cell tumor of the cervix uteri
OrphaCode: 213837
DisorderType: Disease
Name: Gestational trophoblastic disease
OrphaCode: 254685
DisorderType: Category
Children: Name: Gestational trophoblastic neoplasm
OrphaCode: 59305
DisorderType: Clinical group
Children: Name: Invasive mole
OrphaCode: 99925
DisorderType: Disease
Name: Gestational choriocarcinoma
OrphaCode: 99926
DisorderType: Disease
Name: Placental site trophoblastic tumor
OrphaCode: 99928
DisorderType: Disease
Name: Epithelioid trophoblastic tumor
OrphaCode: 254698
DisorderType: Disease
Name: Hydatidiform mole
OrphaCode: 99927
DisorderType: Disease
Children: Name: Complete hydatidiform mole
OrphaCode: 254688
DisorderType: Clinical subtype
Name: Partial hydatidiform mole
OrphaCode: 254693
DisorderType: Clinical subtype
Name: Extramammary Paget disease
OrphaCode: 2800
DisorderType: Disease
Name: Rare uterine adnexal tumor
OrphaCode: 180220
DisorderType: Category
Children: Name: Rare benign ovarian tumor
OrphaCode: 97293
DisorderType: Category
Children: Name: Microcystic stromal tumor
OrphaCode: 569248
DisorderType: Disease
Name: Cystadenoma of childhood
OrphaCode: 206470
DisorderType: Disease
Children: Name: Seromucinous cystadenoma of childhood
OrphaCode: 563676
DisorderType: Histopathological subtype
Name: Mucinous cystadenoma of childhood
OrphaCode: 563671
DisorderType: Histopathological subtype
Name: Serous cystadenoma of childhood
OrphaCode: 563666
DisorderType: Histopathological subtype
Name: Meigs syndrome
OrphaCode: 314451
DisorderType: Clinical syndrome
Name: Pseudo-Meigs syndrome
OrphaCode: 314459
DisorderType: Clinical syndrome
Name: Atypical Meigs syndrome
OrphaCode: 314466
DisorderType: Clinical syndrome
Name: Ovarian fibroma
OrphaCode: 314473
DisorderType: Disease
Name: Ovarian fibrothecoma
OrphaCode: 314478
DisorderType: Disease
Name: Benign tumor of fallopian tubes
OrphaCode: 180237
DisorderType: Disease
Name: Malignant tumor of fallopian tubes
OrphaCode: 180242
DisorderType: Disease
Name: Ovarian cancer
OrphaCode: 213500
DisorderType: Category
Children: Name: Malignant epithelial tumor of ovary
OrphaCode: 398934
DisorderType: Category
Children: Name: Adenocarcinoma of ovary
OrphaCode: 213504
DisorderType: Disease
Name: Malignant mixed Müllerian tumor of the ovary
OrphaCode: 213512
DisorderType: Disease
Name: Mucinous adenocarcinoma of ovary
OrphaCode: 398961
DisorderType: Disease
Name: Clear cell adenocarcinoma of the ovary
OrphaCode: 398971
DisorderType: Disease
Name: Endometrioid carcinoma of ovary
OrphaCode: 454723
DisorderType: Disease
Name: Malignant non-epithelial tumor of ovary
OrphaCode: 398940
DisorderType: Category
Children: Name: Small cell carcinoma of the ovary
OrphaCode: 370396
DisorderType: Disease
Name: Malignant germ cell tumor of ovary
OrphaCode: 35807
DisorderType: Category
Children: Name: Ovarian dysgerminoma
OrphaCode: 99912
DisorderType: Disease
Name: Malignant non-dysgerminomatous germ cell tumor of ovary
OrphaCode: 206538
DisorderType: Disease
Name: Primary non-gestational choriocarcinoma of ovary
OrphaCode: 289356
DisorderType: Disease
Name: Malignant sex cord stromal tumor of ovary
OrphaCode: 35808
DisorderType: Category
Children: Name: Gynandroblastoma
OrphaCode: 99914
DisorderType: Disease
Name: Malignant granulosa cell tumor of the ovary
OrphaCode: 99915
DisorderType: Disease
Name: Malignant Sertoli-Leydig cell tumor of the ovary
OrphaCode: 99916
DisorderType: Disease
Name: Theca steroid-producing cell malignant tumor of ovary, not further specified
OrphaCode: 99917
DisorderType: Disease
Name: Gonadoblastoma
OrphaCode: 206484
DisorderType: Disease
Name: Malignant teratoma of ovary
OrphaCode: 398987
DisorderType: Disease
Name: Rare breast tumor
OrphaCode: 180250
DisorderType: Category
Children: Name: Rare benign breast tumor
OrphaCode: 180253
DisorderType: Category
Children: Name: Phyllodes tumor of the breast
OrphaCode: 180261
DisorderType: Disease
Name: Giant adenofibroma of the breast
OrphaCode: 180267
DisorderType: Disease
Name: Rare malignant breast tumor
OrphaCode: 180257
DisorderType: Category
Children: Name: Hereditary breast and/or ovarian cancer syndrome
OrphaCode: 145
DisorderType: Disease
Name: Paget disease of the nipple
OrphaCode: 180275
DisorderType: Disease
Name: Rare adenocarcinoma of the breast
OrphaCode: 213528
DisorderType: Disease
Name: Metaplastic carcinoma of the breast
OrphaCode: 213531
DisorderType: Disease
Name: Salivary gland type cancer of the breast
OrphaCode: 213557
DisorderType: Disease
Name: Hereditary breast cancer
OrphaCode: 227535
DisorderType: Disease
Name: Phyllodes tumor of the breast
OrphaCode: 180261
DisorderType: Disease
Name: Rare disorder related with pregnancy, childbirth and puerperium
OrphaCode: 163637
DisorderType: Category
Children: Name: Antiphospholipid syndrome
OrphaCode: 80
DisorderType: Disease
Name: Rare disorder related to monochorionic twin pregnancy
OrphaCode: 617307
DisorderType: Category
Children: Name: Rare disorder due to unbalanced inter-twin blood transfusion
OrphaCode: 617310
DisorderType: Category
Children: Name: Twin to twin transfusion syndrome
OrphaCode: 95431
DisorderType: Disease
Name: Twin anemia-polycythemia sequence
OrphaCode: 617294
DisorderType: Disease
Name: Twin-reversed arterial perfusion sequence
OrphaCode: 617297
DisorderType: Disease
Name: Rare disorder due to inadequate sharing of the placenta
OrphaCode: 617313
DisorderType: Category
Children: Name: Selective intrauterine growth restriction
OrphaCode: 617301
DisorderType: Disease
Name: Amniotic fluid embolism
OrphaCode: 617304
DisorderType: Disease
Name: Idiopathic pregnancy-associated osteoporosis
OrphaCode: 647823
DisorderType: Disease
Name: Placenta accreta spectrum disorder
OrphaCode: 662721
DisorderType: Disease
Name: Vasa previa
OrphaCode: 662786
DisorderType: Disease
Name: Chronic intervillositis of unknown etiology
OrphaCode: 615970
DisorderType: Disease
Name: Peripartum cardiomyopathy
OrphaCode: 563
DisorderType: Disease
Name: Aromatase deficiency
OrphaCode: 91
DisorderType: Disease
Name: Pruritic urticarial papules and plaques of pregnancy
OrphaCode: 64745
DisorderType: Disease
Name: Intrahepatic cholestasis of pregnancy
OrphaCode: 69665
DisorderType: Disease
Name: Hypertension due to gain-of-function mutations in the mineralocorticoid receptor
OrphaCode: 88660
DisorderType: Disease
Name: Familial gestational hyperthyroidism
OrphaCode: 99819
DisorderType: Disease
Name: Acute fatty liver of pregnancy
OrphaCode: 243367
DisorderType: Disease
Name: Preeclampsia
OrphaCode: 275555
DisorderType: Disease
Name: Malignancy diagnosed during pregnancy
OrphaCode: 289385
DisorderType: Particular clinical situation in a disease or syndrome
Name: Placental insufficiency
OrphaCode: 439167
DisorderType: Clinical syndrome
Name: Postpartum psychosis
OrphaCode: 443173
DisorderType: Disease
Name: HELLP syndrome
OrphaCode: 244242
DisorderType: Disease
Name: Uterovaginal malformation
OrphaCode: 180062
DisorderType: Category
Children: Name: Non-syndromic uterovaginal malformation
OrphaCode: 180065
DisorderType: Category
Children: Name: Diethylstilbestrol syndrome
OrphaCode: 1916
DisorderType: Malformation syndrome
Name: Müllerian aplasia
OrphaCode: 73217
DisorderType: Clinical group
Children: Name: Partial bilateral aplasia of the Müllerian ducts
OrphaCode: 180068
DisorderType: Clinical group
Children: Name: Mayer-Rokitansky-Küster-Hauser syndrome
OrphaCode: 3109
DisorderType: Malformation syndrome
Children: Name: Mayer-Rokitansky-Küster-Hauser syndrome type 2
OrphaCode: 2578
DisorderType: Clinical subtype
Name: Mayer-Rokitansky-Küster-Hauser syndrome type 1
OrphaCode: 247775
DisorderType: Clinical subtype
Name: Müllerian aplasia and hyperandrogenism
OrphaCode: 247768
DisorderType: Malformation syndrome
Name: Unilateral aplasia of the Müllerian ducts
OrphaCode: 180071
DisorderType: Clinical group
Children: Name: True unicornuate uterus
OrphaCode: 180074
DisorderType: Morphological anomaly
Name: Pseudounicornuate uterus
OrphaCode: 180079
DisorderType: Morphological anomaly
Name: Septate uterus
OrphaCode: 180122
DisorderType: Clinical group
Children: Name: Complete septate uterus
OrphaCode: 180126
DisorderType: Morphological anomaly
Name: Partial septate uterus
OrphaCode: 180129
DisorderType: Morphological anomaly
Name: Bicornuate uterus
OrphaCode: 180134
DisorderType: Clinical group
Children: Name: Didelphys uterus
OrphaCode: 180086
DisorderType: Morphological anomaly
Children: Name: Bicervical bicornuate uterus and blind hemivagina
OrphaCode: 180106
DisorderType: Clinical subtype
Name: Bicervical bicornuate uterus with patent cervix and vagina
OrphaCode: 180111
DisorderType: Clinical subtype
Name: Unicervical bicornuate uterus
OrphaCode: 180114
DisorderType: Morphological anomaly
Name: Uterine hypoplasia
OrphaCode: 180139
DisorderType: Morphological anomaly
Name: Absence of uterine body
OrphaCode: 180142
DisorderType: Morphological anomaly
Name: Uterine cervical aplasia and agenesis
OrphaCode: 180145
DisorderType: Morphological anomaly
Name: Syndromic uterovaginal malformation
OrphaCode: 180148
DisorderType: Category
Children: Name: Currarino syndrome
OrphaCode: 1552
DisorderType: Malformation syndrome
Name: PAGOD syndrome
OrphaCode: 991
DisorderType: Malformation syndrome
Name: Hand-foot-genital syndrome
OrphaCode: 2438
DisorderType: Malformation syndrome
Name: Müllerian duct anomalies-limb anomalies syndrome
OrphaCode: 2491
DisorderType: Malformation syndrome
Name: 46,XX difference of sex development-anorectal anomalies syndrome
OrphaCode: 2973
DisorderType: Malformation syndrome
Name: Meacham syndrome
OrphaCode: 3097
DisorderType: Malformation syndrome
Name: Double uterus-hemivagina-renal agenesis syndrome
OrphaCode: 3411
DisorderType: Malformation syndrome
Name: Rare vaginal malformation
OrphaCode: 180151
DisorderType: Category
Children: Name: Vaginal atresia
OrphaCode: 65681
DisorderType: Morphological anomaly
Name: Isolated partial vaginal agenesis
OrphaCode: 96269
DisorderType: Morphological anomaly
Name: Septate vagina
OrphaCode: 180154
DisorderType: Morphological anomaly
Children: Name: Longitudinal vaginal septum
OrphaCode: 180157
DisorderType: Clinical subtype
Name: Transverse vaginal septum
OrphaCode: 180160
DisorderType: Clinical subtype
Name: Rare breast malformation
OrphaCode: 180163
DisorderType: Category
Children: Name: Excess breast volume or number
OrphaCode: 180170
DisorderType: Category
Children: Name: Familial supernumerary nipples
OrphaCode: 2456
DisorderType: Morphological anomaly
Name: Familial juvenile hypertrophy of the breast
OrphaCode: 180176
DisorderType: Morphological anomaly
Name: Supernumerary breasts
OrphaCode: 180182
DisorderType: Morphological anomaly
Name: Mammary-digital-nail syndrome
OrphaCode: 238744
DisorderType: Malformation syndrome
Name: Deficient breast volume or number
OrphaCode: 180173
DisorderType: Category
Children: Name: Scalp-ear-nipple syndrome
OrphaCode: 2036
DisorderType: Malformation syndrome
Name: Ulnar-mammary syndrome
OrphaCode: 3138
DisorderType: Malformation syndrome
Name: Becker nevus syndrome
OrphaCode: 64755
DisorderType: Disease
Name: Limb-mammary syndrome
OrphaCode: 69085
DisorderType: Malformation syndrome
Name: Isolated congenital breast hypoplasia/aplasia
OrphaCode: 180188
DisorderType: Morphological anomaly
Name: Syndromic breast hypoplasia/aplasia
OrphaCode: 180193
DisorderType: Category
Children: Name: Craniofrontonasal dysplasia-Poland anomaly syndrome
OrphaCode: 1521
DisorderType: Malformation syndrome
Name: Poland syndrome
OrphaCode: 2911
DisorderType: Malformation syndrome
Name: Rare non-malformative gynecologic or obstetric disease
OrphaCode: 180199
DisorderType: Category
Children: Name: Extrapelvic endometriosis
OrphaCode: 137820
DisorderType: Disease
Name: Rare non-malformative breast disease
OrphaCode: 180202
DisorderType: Category
Children: Name: Granulomatous mastitis
OrphaCode: 64722
DisorderType: Disease
Name: Lymphocytic mastitis
OrphaCode: 653698
DisorderType: Disease
Name: Rare non-malformative uterovaginal or vulvovaginal disease
OrphaCode: 180205
DisorderType: Category
Children: Name: Vulvovaginal gingival syndrome
OrphaCode: 83453
DisorderType: Disease
Name: Asherman syndrome
OrphaCode: 137686
DisorderType: Disease
Name: Rare non-malformative uterine adnexal disease
OrphaCode: 180303
DisorderType: Category
Children: Name: Ovarian hyperstimulation syndrome
OrphaCode: 64739
DisorderType: Disease
Name: Anomaly of puberty or/and menstrual cycle
OrphaCode: 180208
DisorderType: Category
Children: Name: Estrogen resistance syndrome
OrphaCode: 785
DisorderType: Disease
Name: Rare acquired premature ovarian failure
OrphaCode: 95709
DisorderType: Category
Children: Name: Autoimmune polyendocrinopathy type 2
OrphaCode: 3143
DisorderType: Disease
Name: Autoimmune polyendocrinopathy type 1
OrphaCode: 3453
DisorderType: Disease
Name: Rare non-acquired premature ovarian failure
OrphaCode: 95710
DisorderType: Category
Children: Name: Turner syndrome
OrphaCode: 881
DisorderType: Malformation syndrome
Children: Name: Monosomy X
OrphaCode: 99226
DisorderType: Etiological subtype
Name: Mosaic monosomy X
OrphaCode: 99228
DisorderType: Etiological subtype
Name: Turner syndrome due to structural X chromosome anomalies
OrphaCode: 99413
DisorderType: Etiological subtype
Name: Ataxia-telangiectasia
OrphaCode: 100
DisorderType: Disease
Name: Tetrasomy X
OrphaCode: 9
DisorderType: Malformation syndrome
Name: 46,XX gonadal dysgenesis
OrphaCode: 243
DisorderType: Malformation syndrome
Name: Trisomy X
OrphaCode: 3375
DisorderType: Malformation syndrome
Name: Perrault syndrome
OrphaCode: 2855
DisorderType: Disease
Children: Name: Perrault syndrome type 1
OrphaCode: 642945
DisorderType: Clinical subtype
Name: Perrault syndrome type 2
OrphaCode: 642976
DisorderType: Clinical subtype
Name: Aromatase deficiency
OrphaCode: 91
DisorderType: Disease
Name: Osteosclerosis-ichthyosis-premature ovarian failure syndrome
OrphaCode: 75325
DisorderType: Disease
Name: Classic galactosemia
OrphaCode: 79239
DisorderType: Disease
Name: Congenital lipoid adrenal hyperplasia due to STAR deficency
OrphaCode: 90790
DisorderType: Disease
Children: Name: Classic congenital lipoid adrenal hyperplasia due to STAR deficency
OrphaCode: 325524
DisorderType: Clinical subtype
Name: Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency
OrphaCode: 325529
DisorderType: Clinical subtype
Name: Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
OrphaCode: 90793
DisorderType: Disease
Name: X small rings
OrphaCode: 96201
DisorderType: Malformation syndrome
Name: Microcephalic primordial dwarfism-insulin resistance syndrome
OrphaCode: 436182
DisorderType: Malformation syndrome
Name: 46,XX ovarian dysgenesis-short stature syndrome
OrphaCode: 444048
DisorderType: Disease
Name: Satoyoshi syndrome
OrphaCode: 3130
DisorderType: Disease
Name: Symptomatic form of fragile X syndrome in female carriers
OrphaCode: 449291
DisorderType: Disease
Name: Blepharophimosis-ptosis-epicanthus inversus syndrome type 1
OrphaCode: 572354
DisorderType: Clinical subtype
Name: Fragile X-associated primary ovarian insufficiency
OrphaCode: 642691
DisorderType: Disease
Name: Hyperandrogenism due to cortisone reductase deficiency
OrphaCode: 168588
DisorderType: Malformation syndrome
Name: Congenital hypogonadotropic hypogonadism
OrphaCode: 174590
DisorderType: Category
Children: Name: Rare disorder with multisystemic involvement and congenital hypogonadotropic hypogonadism
OrphaCode: 181387
DisorderType: Category
Children: Name: CHARGE syndrome
OrphaCode: 138
DisorderType: Malformation syndrome
Name: Prader-Willi syndrome
OrphaCode: 739
DisorderType: Disease
Children: Name: Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
OrphaCode: 98754
DisorderType: Etiological subtype
Name: Prader-Willi syndrome due to paternal 15q11q13 deletion
OrphaCode: 98793
DisorderType: Etiological subtype
Children: Name: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
OrphaCode: 177901
DisorderType: Etiological subtype
Name: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
OrphaCode: 177904
DisorderType: Etiological subtype
Name: Prader-Willi syndrome due to translocation
OrphaCode: 177907
DisorderType: Etiological subtype
Name: Prader-Willi syndrome due to imprinting mutation
OrphaCode: 177910
DisorderType: Etiological subtype
Name: Laurence-Moon syndrome
OrphaCode: 2377
DisorderType: Malformation syndrome
Name: Cerebellar ataxia-hypogonadism syndrome
OrphaCode: 1173
DisorderType: Disease
Name: Ataxia-hypogonadism-choroidal dystrophy syndrome
OrphaCode: 1180
DisorderType: Disease
Name: Cataract-intellectual disability-hypogonadism syndrome
OrphaCode: 1387
DisorderType: Malformation syndrome
Name: Hypogonadotropic hypogonadism-frontoparietal alopecia syndrome
OrphaCode: 2230
DisorderType: Disease
Name: Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome
OrphaCode: 2235
DisorderType: Disease
Name: Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome
OrphaCode: 2250
DisorderType: Disease
Name: Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome
OrphaCode: 2560
DisorderType: Malformation syndrome
Name: Woodhouse-Sakati syndrome
OrphaCode: 3464
DisorderType: Disease
Name: Kallmann syndrome-heart disease syndrome
OrphaCode: 2326
DisorderType: Malformation syndrome
Name: Bardet-Biedl syndrome
OrphaCode: 110
DisorderType: Disease
Name: Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome
OrphaCode: 88637
DisorderType: Clinical subtype
Name: ANE syndrome
OrphaCode: 157954
DisorderType: Disease
Name: Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome
OrphaCode: 293967
DisorderType: Malformation syndrome
Name: Prader-Willi-like syndrome
OrphaCode: 398073
DisorderType: Clinical group
Children: Name: CPE-related Prader-Willi-like syndrome
OrphaCode: 633028
DisorderType: Disease
Name: 6q16 microdeletion syndrome
OrphaCode: 171829
DisorderType: Disease
Name: SIM1-related Prader-Willi-like syndrome
OrphaCode: 398079
DisorderType: Disease
Name: MAGEL2-related Prader-Willi-like syndrome
OrphaCode: 398069
DisorderType: Disease
Name: Brachytelephalangy-dysmorphism-Kallmann syndrome
OrphaCode: 1295
DisorderType: Malformation syndrome
Name: Polyendocrine-polyneuropathy syndrome
OrphaCode: 453533
DisorderType: Disease
Name: Endocrinopathy with congenital hypogonadotropic hypogonadism as a major feature
OrphaCode: 181390
DisorderType: Category
Children: Name: Obesity due to congenital leptin deficiency
OrphaCode: 66628
DisorderType: Etiological subtype
Name: Obesity due to prohormone convertase I deficiency
OrphaCode: 71528
DisorderType: Etiological subtype
Name: Non-acquired panhypopituitarism
OrphaCode: 90695
DisorderType: Disease
Name: Combined pituitary hormone deficiencies, genetic forms
OrphaCode: 95494
DisorderType: Disease
Name: Familial adrenal hypoplasia with absent pituitary luteinizing hormone
OrphaCode: 95700
DisorderType: Disease
Name: X-linked adrenal hypoplasia congenita
OrphaCode: 95702
DisorderType: Disease
Name: Obesity due to leptin receptor gene deficiency
OrphaCode: 179494
DisorderType: Etiological subtype
Name: Isolated congenital hypogonadotropic hypogonadism
OrphaCode: 238666
DisorderType: Disease
Children: Name: Kallmann syndrome
OrphaCode: 478
DisorderType: Clinical subtype
Name: Normosmic congenital hypogonadotropic hypogonadism
OrphaCode: 432
DisorderType: Clinical subtype
Name: Isolated follicle stimulating hormone deficiency
OrphaCode: 52901
DisorderType: Disease
Name: Rare precocious puberty in female
OrphaCode: 435561
DisorderType: Category
Children: Name: Rare central precocious puberty in female
OrphaCode: 650070
DisorderType: Clinical group
Children: Name: Genetic central precocious puberty in female
OrphaCode: 650077
DisorderType: Disease
Name: Secondary central precocious puberty in female
OrphaCode: 650082
DisorderType: Disease
Name: Rare peripheral precocious puberty in female
OrphaCode: 650187
DisorderType: Clinical group
Children: Name: McCune-Albright syndrome
OrphaCode: 562
DisorderType: Disease
Name: Aromatase excess syndrome
OrphaCode: 178345
DisorderType: Disease
Name: Menstrual cycle-dependent periodic fever
OrphaCode: 498251
DisorderType: Disease
Name: Difference of sex development of gynecological interest
OrphaCode: 325620
DisorderType: Category
Children: Name: Gonadal dysgenesis of gynecological interest
OrphaCode: 98074
DisorderType: Category
Children: Name: 46,XX gonadal dysgenesis
OrphaCode: 243
DisorderType: Malformation syndrome
Name: 46,XY complete gonadal dysgenesis
OrphaCode: 242
DisorderType: Malformation syndrome
Name: 45,X/46,XY mixed gonadal dysgenesis
OrphaCode: 1772
DisorderType: Malformation syndrome
Name: 46,XX ovotesticular difference of sex development
OrphaCode: 2138
DisorderType: Malformation syndrome
Name: 46,XY partial gonadal dysgenesis
OrphaCode: 251510
DisorderType: Malformation syndrome
Name: 46,XY ovotesticular difference of sex development
OrphaCode: 325345
DisorderType: Disease
Name: 46,XX ovarian dysgenesis-short stature syndrome
OrphaCode: 444048
DisorderType: Disease
Name: 46,XX difference of sex development induced by androgens excess
OrphaCode: 98078
DisorderType: Category
Children: Name: 46,XX difference of sex development induced by fetal androgens excess
OrphaCode: 90776
DisorderType: Category
Children: Name: Generalized glucocorticoid resistance syndrome
OrphaCode: 786
DisorderType: Disease
Name: Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency
OrphaCode: 90791
DisorderType: Disease
Name: Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
OrphaCode: 90794
DisorderType: Disease
Children: Name: Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form
OrphaCode: 315306
DisorderType: Clinical subtype
Name: Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form
OrphaCode: 315311
DisorderType: Clinical subtype
Name: Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
OrphaCode: 90795
DisorderType: Disease
Name: Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
OrphaCode: 95699
DisorderType: Disease
Name: Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis
OrphaCode: 63269
DisorderType: Clinical subtype
Name: 46,XX difference of sex development induced by maternal-derived androgen
OrphaCode: 91144
DisorderType: Category
Children: Name: 46,XX difference of sex development induced by endogenous maternal-derived androgen
OrphaCode: 325093
DisorderType: Clinical group
Name: 46,XX difference of sex development induced by exogenous maternal-derived androgen
OrphaCode: 325099
DisorderType: Clinical group
Name: 46,XX difference of sex development induced by fetoplacental androgens excess
OrphaCode: 325061
DisorderType: Category
Children: Name: Aromatase deficiency
OrphaCode: 91
DisorderType: Disease
Name: 46,XY difference of sex development of gynecological interest
OrphaCode: 325632
DisorderType: Category
Children: Name: Androgen insensitivity syndrome
OrphaCode: 754
DisorderType: Clinical group
Children: Name: Partial androgen insensitivity syndrome
OrphaCode: 90797
DisorderType: Disease
Name: Complete androgen insensitivity syndrome
OrphaCode: 99429
DisorderType: Disease
Name: 46,XY difference of sex development due to adrenal and testicular steroidogenesis defect
OrphaCode: 90786
DisorderType: Category
Children: Name: Congenital lipoid adrenal hyperplasia due to STAR deficency
OrphaCode: 90790
DisorderType: Disease
Children: Name: Classic congenital lipoid adrenal hyperplasia due to STAR deficency
OrphaCode: 325524
DisorderType: Clinical subtype
Name: Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency
OrphaCode: 325529
DisorderType: Clinical subtype
Name: Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency
OrphaCode: 90791
DisorderType: Disease
Name: Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
OrphaCode: 90793
DisorderType: Disease
Name: Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
OrphaCode: 95699
DisorderType: Disease
Name: 46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency
OrphaCode: 168558
DisorderType: Disease
Name: Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis
OrphaCode: 63269
DisorderType: Clinical subtype
Name: 46,XY difference of sex development due to testicular steroidogenesis defect
OrphaCode: 90787
DisorderType: Category
Children: Name: 46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
OrphaCode: 752
DisorderType: Disease
Name: 46,XY difference of sex development due to isolated 17,20-lyase deficiency
OrphaCode: 90796
DisorderType: Disease
Name: 46,XY difference of sex development due to a defect in testosterone metabolism by peripheral tissue
OrphaCode: 98086
DisorderType: Category
Children: Name: 46,XY difference of sex development due to 5-alpha-reductase 2 deficiency
OrphaCode: 753
DisorderType: Disease
Name: Syndrome with difference of sex development of gynecological interest
OrphaCode: 325638
DisorderType: Category
Children: Name: Turner syndrome
OrphaCode: 881
DisorderType: Malformation syndrome
Children: Name: Monosomy X
OrphaCode: 99226
DisorderType: Etiological subtype
Name: Mosaic monosomy X
OrphaCode: 99228
DisorderType: Etiological subtype
Name: Turner syndrome due to structural X chromosome anomalies
OrphaCode: 99413
DisorderType: Etiological subtype
Name: WAGR syndrome
OrphaCode: 893
DisorderType: Malformation syndrome
Name: Distal deletion 9p
OrphaCode: 1642
DisorderType: Malformation syndrome
Name: XY type gonadal dysgenesis-associated anomalies syndrome
OrphaCode: 1770
DisorderType: Malformation syndrome
Name: Difference of sex development-intellectual disability syndrome
OrphaCode: 2983
DisorderType: Disease
Name: Chondrodysplasia-difference of sex development syndrome
OrphaCode: 1422
DisorderType: Malformation syndrome
Name: X-linked alpha-thalassemia-intellectual disability syndrome
OrphaCode: 847
DisorderType: Malformation syndrome
Name: Campomelic dysplasia
OrphaCode: 140
DisorderType: Malformation syndrome
Name: PAGOD syndrome
OrphaCode: 991
DisorderType: Malformation syndrome
Name: Dysmorphism-short stature-deafness-difference of sex development syndrome
OrphaCode: 2282
DisorderType: Malformation syndrome
Name: Perrault syndrome
OrphaCode: 2855
DisorderType: Disease
Children: Name: Perrault syndrome type 1
OrphaCode: 642945
DisorderType: Clinical subtype
Name: Perrault syndrome type 2
OrphaCode: 642976
DisorderType: Clinical subtype
Name: 46,XX difference of sex development-skeletal anomalies syndrome
OrphaCode: 2975
DisorderType: Malformation syndrome
Name: Meacham syndrome
OrphaCode: 3097
DisorderType: Malformation syndrome
Name: Denys-Drash syndrome
OrphaCode: 220
DisorderType: Disease
Name: Frasier syndrome
OrphaCode: 347
DisorderType: Disease
Name: Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome
OrphaCode: 85112
DisorderType: Disease
Name: Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome
OrphaCode: 137631
DisorderType: Disease
Name: 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome
OrphaCode: 168563
DisorderType: Malformation syndrome
Name: Tetragametic chimerism
OrphaCode: 199310
DisorderType: Malformation syndrome
Name: Müllerian aplasia and hyperandrogenism
OrphaCode: 247768
DisorderType: Malformation syndrome