Female Infertility Due To Oocyte Meiotic Arrest |
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Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... |
ORPHA:488191 |
46,Xx Testicular Difference Of Sex Development |
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Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries |
ORPHA:393 |
Familial Hyperprolactinemia |
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Hemorrhagic ovarian cyst, Female hypogonadism, Menorrhagia, Infertility, Oligomenorrhea, Amenorrhea |
ORPHA:397685 |
46,Xy Complete Gonadal Dysgenesis |
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Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries |
ORPHA:242 |
Hepatic Adenomas, Familial |
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Polycystic ovaries |
OMIM:142330 |
Xp22.3 Microdeletion Syndrome |
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Hypogonadotropic hypogonadism, Decreased fertility, Secondary amenorrhea, Polycystic ovaries |
ORPHA:1643 |
Aromatase Deficiency |
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Ovarian cyst, Hypergonadotropic hypogonadism, Primary amenorrhea, Female pseudohermaphroditism |
OMIM:613546 |
Polycystic Ovary Syndrome 1 |
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Enlarged polycystic ovaries, Oligomenorrhea, Amenorrhea |
OMIM:184700 |
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
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Precocious puberty, Hypergonadotropic hypogonadism, Polycystic ovaries |
ORPHA:2229 |
46,Xx Ovotesticular Difference Of Sex Development |
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Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... |
ORPHA:2138 |
Premature Ovarian Failure 5 |
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Streak ovary, Premature ovarian insufficiency, Secondary amenorrhea, Primary amenorrhea, Hypoplas... |
OMIM:611548 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
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Hypogonadotropic hypogonadism, Secondary amenorrhea, Abnormal spermatogenesis, Azoospermia, Ovari... |
OMIM:228300 |
Plin1-Related Familial Partial Lipodystrophy |
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Infertility, Oligomenorrhea, Polycystic ovaries |
ORPHA:280356 |
Fowler Urethral Sphincter Dysfunction Syndrome |
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Polycystic ovaries, Menorrhagia, Oligomenorrhea, Abnormality of the ovary, Amenorrhea |
ORPHA:2795 |
Rudiger Syndrome |
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Ovarian cyst, Micropenis, Bicornuate uterus |
OMIM:268650 |
Functioning Gonadotropic Adenoma |
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Macroorchidism, postpubertal, Decreased female libido, Decreased response to growth hormone stimu... |
ORPHA:91348 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
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Hypergonadotropic hypogonadism, Cryptorchidism, Secondary amenorrhea, Polycystic ovaries, Decreas... |
ORPHA:3085 |
Perrault Syndrome 6 |
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Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Primary amenorrhea, Second... |
OMIM:617565 |
Fraser-Like Syndrome |
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Ovarian cyst |
OMIM:229230 |
Ovarian Dysgenesis 2 |
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Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Secondary amenorrh... |
OMIM:300510 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
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Abnormality of the ovary, Hypogonadism, Decreased testicular size |
ORPHA:1875 |
Ring Chromosome Y Syndrome |
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Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... |
ORPHA:261529 |
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
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Hypergonadotropic hypogonadism, Secondary amenorrhea, Polycystic ovaries |
OMIM:268020 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
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Enlarged polycystic ovaries, Elevated circulating growth hormone concentration, Polycystic ovaries |
ORPHA:90301 |
Premature Ovarian Failure 6 |
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Premature ovarian insufficiency, Streak ovary, Elevated circulating luteinizing hormone level, Fe... |
OMIM:612310 |
Lipodystrophy, Partial, Acquired, Susceptibility To |
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Polycystic ovaries |
OMIM:608709 |
Congenital Factor Vii Deficiency |
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Ovarian cyst, Menorrhagia |
ORPHA:327 |
Akt2-Related Familial Partial Lipodystrophy |
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Oligomenorrhea, Polycystic ovaries |
ORPHA:79085 |
Hypodontia-Dysplasia Of Nails Syndrome |
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Polycystic ovaries |
ORPHA:2228 |
Estrogen Resistance |
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Hypoplasia of the uterus, Breast aplasia, Primary amenorrhea, Polycystic ovaries |
OMIM:615363 |
Familial Partial Lipodystrophy, Köbberling Type |
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Polycystic ovaries |
ORPHA:79084 |
Perrault Syndrome 2 |
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Streak ovary, Amenorrhea |
OMIM:614926 |
Premature Ovarian Failure 10 |
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Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... |
OMIM:612885 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
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Bifid scrotum, Male infertility, Hypospadias, Precocious puberty in females, Elevated circulating... |
ORPHA:90793 |
Premature Ovarian Failure 9 |
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Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Hypoplasia of th... |
OMIM:615724 |
Distal Deletion 10P |
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Cryptorchidism, Hypoplasia of penis, Polycystic ovaries |
ORPHA:1580 |
Premature Ovarian Failure 18 |
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Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr... |
OMIM:619203 |
Ovarian Dysgenesis 3 |
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Female infertility, Elevated circulating luteinizing hormone level, Primary amenorrhea, Elevated ... |
OMIM:614324 |
Lipodystrophy, Familial Partial, Type 3 |
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Oligomenorrhea, Primary amenorrhea, Polycystic ovaries |
OMIM:604367 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
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Hypoplasia of the vagina, Hypospadias, Hypergonadotropic hypogonadism, Elevated circulating lutei... |
ORPHA:90796 |
Hypergonadotropic Hypogonadism And Partial Alopecia |
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Streak ovary, Hypergonadotropic hypogonadism |
OMIM:241090 |
Ovarian Dysgenesis 10 |
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Premature ovarian insufficiency, Streak ovary, Elevated circulating luteinizing hormone level, Pr... |
OMIM:619834 |
Gonadoblastoma |
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Female external genitalia in individual with 46,XY karyotype, Gonadal calcification, Gonadal dysg... |
ORPHA:206484 |
Cidec-Related Familial Partial Lipodystrophy |
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Oligomenorrhea, Polycystic ovaries |
ORPHA:435651 |
Ataxia-Telangiectasia |
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Abnormal testis morphology, Polycystic ovaries |
ORPHA:100 |
Lipe-Related Familial Partial Lipodystrophy |
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Abnormal labia majora morphology, Oligomenorrhea, Polycystic ovaries |
ORPHA:435660 |
Premature Ovarian Failure 8 |
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Premature ovarian insufficiency, Streak ovary, Elevated circulating luteinizing hormone level, Pr... |
OMIM:615723 |
Premature Ovarian Failure 3 |
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Hypoplasia of the uterus, Premature ovarian insufficiency, Secondary amenorrhea |
OMIM:608996 |
Preeclampsia |
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Polycystic ovaries |
ORPHA:275555 |
Familial Adenomatous Polyposis 4 |
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Ovarian cyst, Uterine leiomyoma, Renal cyst |
OMIM:617100 |
Congenital Generalized Lipodystrophy |
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Overgrowth of external genitalia, Precocious puberty in females, Polycystic ovaries, Oligomenorrh... |
ORPHA:528 |
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome |
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Fused labia minora, Ambiguous genitalia, female, Primary amenorrhea, Abnormality of the uterus, A... |
ORPHA:2975 |
Bangstad Syndrome |
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Abnormality of the parathyroid gland, Abnormal testis morphology, Polycystic ovaries |
ORPHA:1227 |
Premature Ovarian Failure 21 |
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Streak ovary, Precocious puberty in females, Primary amenorrhea, Secondary amenorrhea, Elevated c... |
OMIM:620311 |
Pparg-Related Familial Partial Lipodystrophy |
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Dysmenorrhea, Primary amenorrhea, Secondary amenorrhea, Polycystic ovaries, Oligomenorrhea |
ORPHA:79083 |
Xp22.13P22.2 Duplication Syndrome |
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Macroorchidism, Polycystic ovaries |
ORPHA:284180 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
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Isosexual precocious puberty, Premature thelarche, Precocious puberty, Ambiguous genitalia, femal... |
ORPHA:90795 |
Luscan-Lumish Syndrome |
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Irregular menstruation, Polycystic ovaries |
OMIM:616831 |
Ovarian Dysgenesis 9 |
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Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... |
OMIM:619665 |
Osteosclerosis With Ichthyosis And Premature Ovarian Failure |
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Hypoplasia of the ovary, Premature ovarian insufficiency |
OMIM:609993 |
Familial Partial Lipodystrophy, Dunnigan Type |
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Dysmenorrhea, Secondary amenorrhea, Polycystic ovaries |
ORPHA:2348 |
Congenital Fibrinogen Deficiency |
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Micropenis, Hemorrhagic ovarian cyst, Decreased testicular size |
ORPHA:335 |
Ovarian Hyperstimulation Syndrome |
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Enlarged polycystic ovaries, Ovarian cyst, Increased circulating gonadotropin level, Hemorrhagic ... |
ORPHA:64739 |
Ovarian Fibrothecoma |
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Ovarian fibroma, Metrorrhagia, Abnormal endometrium morphology, Gonadal calcification, Abnormalit... |
ORPHA:314478 |
46,Xy Sex Reversal 7 |
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Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex... |
OMIM:233420 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
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Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... |
ORPHA:1772 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
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Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... |
ORPHA:168563 |
Partial Androgen Insensitivity Syndrome |
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Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Male infertility, Hypospadias, Elevated ... |
ORPHA:90797 |
Tetragametic Chimerism |
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Bifid scrotum, True hermaphroditism, Ovotestis, Cryptorchidism, Perineal hypospadias, Abnormality... |
ORPHA:199310 |
Perrault Syndrome 3 |
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Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Pri... |
OMIM:614129 |
Donohue Syndrome |
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Precocious puberty, Ovarian cyst, Long penis, Clitoral hypertrophy |
OMIM:246200 |
Cowden Syndrome 6 |
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Hydrocele testis, Ovarian cyst, Varicocele, Goiter |
OMIM:615109 |
Hypogonadotropic Hypogonadism 25 With Anosmia |
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Cryptorchidism, Micropenis, Hypoplasia of the ovary, Primary amenorrhea |
OMIM:618841 |
Cowden Syndrome 5 |
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Hydrocele testis, Ovarian cyst, Goiter |
OMIM:615108 |
Mccune-Albright Syndrome |
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Hyperplasia of the Leydig cells, Elevated circulating growth hormone concentration, Precocious pu... |
ORPHA:562 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
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Gonadal dysgenesis, Polycystic ovaries |
ORPHA:1770 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
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Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Hypoplasia of the uterus, Hypo... |
OMIM:614841 |
Cowden Syndrome 1 |
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Hydrocele testis, Ovarian cyst, Ovarian carcinoma, Varicocele, Goiter |
OMIM:158350 |
Aromatase Deficiency |
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Macroorchidism, postpubertal, Male infertility, Hypergonadotropic hypogonadism, Female infertilit... |
ORPHA:91 |
Cystic Echinococcosis |
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Ovarian cyst, Renal cyst, Hepatic cysts, Abnormality of the testis size |
ORPHA:400 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
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Irregular menstruation, Dysmenorrhea, Oligomenorrhea, Polycystic ovaries |
ORPHA:79240 |
Satoyoshi Syndrome |
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Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of the uterus, Abnormality of the ... |
ORPHA:3130 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
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Ovarian cyst |
OMIM:610475 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
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Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Elevated circulati... |
ORPHA:572333 |
Perrault Syndrome 4 |
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Premature ovarian insufficiency, Increased circulating gonadotropin level, Secondary amenorrhea, ... |
OMIM:615300 |
Estrogen Resistance Syndrome |
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Enlarged polycystic ovaries, Increased circulating gonadotropin level, Primary amenorrhea, Hypopl... |
ORPHA:785 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
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Irregular menstruation, Dysmenorrhea, Oligomenorrhea, Polycystic ovaries |
ORPHA:264580 |
Peutz-Jeghers Syndrome |
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Neoplasm of the pancreas, Ovarian cyst, Precocious puberty with Sertoli cell tumor, Uterine neoplasm |
OMIM:175200 |
Nthl1-Related Attenuated Familial Adenomatous Polyposis |
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Endometrial carcinoma, Pancreatic adenocarcinoma, Ovarian cyst |
ORPHA:454840 |
Short Syndrome |
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Ovarian cyst |
OMIM:269880 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
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Streak ovary, Hypospadias, Cryptorchidism, Abnormality of the uterus, Gonadoblastoma, Abnormal va... |
OMIM:194072 |
46,Xx Gonadal Dysgenesis |
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Streak ovary, Premature ovarian insufficiency, Increased circulating gonadotropin level, Decrease... |
ORPHA:243 |
Ovarian Fibroma |
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Gonadal calcification, Ovarian fibroma, Abnormality of the ovary |
ORPHA:314473 |
Müllerian Aplasia And Hyperandrogenism |
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Hypoplasia of the uterus, Abnormal vagina morphology, Abnormality of the ovary, Primary amenorrhea |
ORPHA:247768 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
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Fused labia majora, Abnormality of male external genitalia, Adrenal hyperplasia, Abnormal externa... |
ORPHA:95699 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
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Dysmenorrhea, Secondary amenorrhea, Polycystic ovaries |
ORPHA:280365 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
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Nodular goiter, Premature thelarche, Polycystic ovaries |
ORPHA:371428 |
Proteus-Like Syndrome |
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Abnormality of the parathyroid gland, Thymus hyperplasia, Polycystic ovaries |
ORPHA:2969 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
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Hydrocele testis, Ovarian serous cystadenoma |
ORPHA:276280 |
Carney Complex |
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Neoplasm of the pancreas, Ovarian dermoid cyst, Pituitary growth hormone cell adenoma, Sertoli ce... |
ORPHA:1359 |
Fibrous Dysplasia Of Bone |
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Precocious puberty in females, Testicular neoplasm, Elevated circulating growth hormone concentra... |
ORPHA:249 |
Chromosome 17Q12 Deletion Syndrome |
|
Multicystic kidney dysplasia, Cryptorchidism, Renal cyst, Ovarian cyst, Aplasia of the vagina, Ap... |
OMIM:614527 |
46,Xy Partial Gonadal Dysgenesis |
|
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Micropenis, Ovarian gonadoblasto... |
ORPHA:251510 |
Infantile Systemic Hyalinosis |
|
Polycystic ovaries |
ORPHA:2176 |
Hyperparathyroidism, Transient Neonatal |
|
Ovarian cyst, Hyperparathyroidism |
OMIM:618188 |
Peutz-Jeghers Syndrome |
|
Enlarged polycystic ovaries, Cervix cancer, Pancreatic adenocarcinoma, Multiple renal cysts |
ORPHA:2869 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Decreased fertility in females, Labial hypertrophy, Decreased fertility, Polycystic ovaries, Clit... |
OMIM:269700 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Labial hypertrophy, Decreased fertility in females, Clitoral hypertrophy, Polycystic ovaries |
OMIM:608594 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
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Bifid scrotum, Fused labia majora, Small scrotum, Hypospadias, Cryptorchidism, Vesicovaginal fist... |
OMIM:201750 |
Acquired Generalized Lipodystrophy |
|
Polycystic ovaries |
ORPHA:79086 |
Burkitt Lymphoma |
|
Abnormality of the ovary |
ORPHA:543 |
Insulin-Resistance Syndrome Type B |
|
Enlarged ovaries, Abnormal salivary gland morphology, Enlarged polycystic ovaries, Polycystic ova... |
ORPHA:2298 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Streak ovary, Hypergonadotropic hypogonadism, Non-obstructive azoospermia, Cryptorchidism, Increa... |
ORPHA:2232 |
Orofaciodigital Syndrome I |
|
Pancreatic cysts, Ovarian cyst, Polycystic kidney dysplasia, Hepatic cysts |
OMIM:311200 |
Lipodystrophy, Familial Partial, Type 2 |
|
Labial pseudohypertrophy, Polycystic ovaries |
OMIM:151660 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Menorrhagia, Irregular menstruation, Polycystic ovaries |
ORPHA:79259 |
Hypoplasminogenemia |
|
Cervicitis, Abnormality of the ovary, Abnormal fallopian tube morphology |
ORPHA:722 |
Histiocytoid Cardiomyopathy |
|
Renal cyst, Polycystic ovaries |
ORPHA:137675 |
Digeorge Syndrome |
|
Parathyroid agenesis, Parathyroid hypoplasia, Hydrocele testis, Ovarian cyst, Hypoplasia of the t... |
OMIM:188400 |
Williams Syndrome |
|
Hypoplasia of penis, Hypogonadotropic hypogonadism, Precocious puberty, Cryptorchidism, Polycysti... |
ORPHA:904 |
Cowden Syndrome |
|
Abnormal penis morphology, Endometrial carcinoma, Enlarged polycystic ovaries, Adenoma sebaceum, ... |
ORPHA:201 |
Opitz Gbbb Syndrome |
|
Bifid scrotum, Enlarged ovaries, Hypospadias, Cryptorchidism, Bicornuate uterus, Shawl scrotum |
ORPHA:2745 |
Rabson-Mendenhall Syndrome |
|
Enlarged ovaries, Precocious puberty, Long penis, Increased pineal volume, Clitoral hypertrophy |
ORPHA:769 |
Bardet-Biedl Syndrome 1 |
|
Abnormality of the ovary, Hypogonadism, Vaginal atresia, Micropenis, Decreased testicular size |
OMIM:209900 |
Limb-Mammary Syndrome |
|
Absent nipple, Primary amenorrhea, Bilateral breast hypoplasia, Breast aplasia, Hypoplastic nippl... |
ORPHA:69085 |
Leopard Syndrome 1 |
|
Hypospadias, Delayed menarche, Cryptorchidism, Hypoplasia of the ovary, Aplasia of the ovary, Mic... |
OMIM:151100 |
Proteus Syndrome |
|
Thymus hyperplasia, Testicular neoplasm, Enlarged polycystic ovaries, Long penis, Renal cyst, Ova... |
ORPHA:744 |
Leprechaunism |
|
Enlarged ovaries, Overgrowth of external genitalia, Labial hypertrophy, Long penis, Clitoral hype... |
ORPHA:508 |
Alström Syndrome |
|
Precocious puberty in females, Decreased response to growth hormone stimulation test, Hypergonado... |
ORPHA:64 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Se... |
ORPHA:99413 |
Turner Syndrome |
|
Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Se... |
ORPHA:881 |
Mosaic Monosomy X |
|
Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Se... |
ORPHA:99228 |
Monosomy X |
|
Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Se... |
ORPHA:99226 |