| Retinal Dysplasia, Primary |
|
Retinal dysplasia, Falciform retinal fold |
OMIM:312550 |
| Choroidal Dystrophy, Central Areolar, 1 |
|
Pigmentary retinopathy, Choriocapillaris atrophy, Chorioretinal atrophy |
OMIM:215500 |
| Stargardt Disease 1 |
|
Retinitis pigmentosa inversa, Macular degeneration, Bull's eye maculopathy |
OMIM:248200 |
| Endometriosis, Susceptibility To, 1 |
|
Dysmenorrhea, Decreased fertility, Endometriosis |
OMIM:131200 |
| 46,Xx Testicular Difference Of Sex Development |
|
Decreased testicular size, Male hypogonadism, Ambiguous genitalia, Polycystic ovaries |
ORPHA:393 |
| Night Blindness, Congenital Stationary, Type 1D |
|
Pigmentary retinopathy, Attenuation of retinal blood vessels, Congenital stationary night blindne... |
OMIM:613830 |
| Iris Pigment Layer, Cleavage Of |
|
Cataract, Peripheral retinal detachment |
OMIM:147610 |
| Exudative Vitreoretinopathy 7 |
|
Exudative vitreoretinopathy, Retinal degeneration, Retinal detachment, Retinal hole, Retinal fold |
OMIM:617572 |
| Familial Hyperprolactinemia |
|
Hemorrhagic ovarian cyst, Infertility, Amenorrhea, Oligomenorrhea, Female hypogonadism, Menorrhagia |
ORPHA:397685 |
| Cataract 50 With Or Without Glaucoma |
|
Cataract, Persistent pupillary membrane, Retinal detachment |
OMIM:620253 |
| Exudative Vitreoretinopathy 3 |
|
Retinal exudate, Exudative vitreoretinopathy, Retinal detachment, Retinal hole, Retinal fold |
OMIM:605750 |
| Vitreoretinal Degeneration, Snowflake Type |
|
Corneal guttata, Cataract, Retinal dots, Optically empty vitreous, Retinal detachment, Snowflake ... |
OMIM:193230 |
| Gonadoblastoma |
|
Ovarian gonadoblastoma, Abnormality of the ovary, Gonadal calcification, Ambiguous genitalia, Gon... |
ORPHA:206484 |
| Retinoschisis 1, X-Linked, Juvenile |
|
Mizuo phenomenon, Retinal degeneration, Vitreous hemorrhage, Retinal atrophy, Retinal detachment,... |
OMIM:312700 |
| Hepatic Adenomas, Familial |
|
Polycystic ovaries |
OMIM:142330 |
| 46,Xy Complete Gonadal Dysgenesis |
|
Hypogonadotropic hypogonadism, Male pseudohermaphroditism, Testicular dysgenesis, Polycystic ovaries |
ORPHA:242 |
| Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Hypogonadism, Decreased testicular size, Abnormality of the ovary |
ORPHA:1875 |
| Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Cataract, Lens subluxation, Vitreous floaters, Retinal detachment, Peripheral vitreoretinal degen... |
OMIM:614292 |
| Myopia 28, Autosomal Recessive |
|
Cataract, Retinal detachment |
OMIM:619781 |
| Retinitis Pigmentosa 13 |
|
Attenuation of retinal blood vessels, Asteroid hyalosis, Cystoid macular edema, Retinal degenerat... |
OMIM:600059 |
| Stickler Syndrome Type 2 |
|
Cataract, Retinopathy, Abnormal vitreous humor morphology, Retinal detachment, Corneal opacity |
ORPHA:90654 |
| Testicular Regression Syndrome |
|
Abnormal morphology of female internal genitalia, Decreased testicular size, Decreased fertility,... |
ORPHA:983 |
| Cataract 21, Multiple Types |
|
Iris coloboma, Microcornea, Cerulean cataract, Macular hypoplasia, Retinal detachment, Corneal op... |
OMIM:610202 |
| Xp22.3 Microdeletion Syndrome |
|
Hypogonadotropic hypogonadism, Decreased fertility, Secondary amenorrhea, Polycystic ovaries |
ORPHA:1643 |
| 46,Xx Ovotesticular Difference Of Sex Development |
|
Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno... |
ORPHA:2138 |
| Aromatase Deficiency |
|
Female pseudohermaphroditism, Hypergonadotropic hypogonadism, Ovarian cyst, Primary amenorrhea |
OMIM:613546 |
| Premature Ovarian Failure 5 |
|
Reduced antral follicle count, Streak ovary, Hypoplasia of the ovary, Primary amenorrhea, Prematu... |
OMIM:611548 |
| Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
|
Precocious puberty, Hypergonadotropic hypogonadism, Polycystic ovaries |
ORPHA:2229 |
| Fowler Urethral Sphincter Dysfunction Syndrome |
|
Abnormality of the ovary, Polycystic ovaries, Amenorrhea, Oligomenorrhea, Menorrhagia |
ORPHA:2795 |
| Reese Retinal Dysplasia |
|
Retinal dysplasia, Remnants of the hyaloid vascular system |
OMIM:266400 |
| Polycystic Ovary Syndrome 1 |
|
Enlarged polycystic ovaries, Amenorrhea, Oligomenorrhea |
OMIM:184700 |
| Ectopia Lentis Et Pupillae |
|
Cataract, Ectopia lentis, Ectopia pupillae, Retinal detachment, Iris transillumination defect, Pe... |
OMIM:225200 |
| Tetragametic Chimerism |
|
Clitoral hypertrophy, Bifid scrotum, Abnormality of the ovary, Abnormal scrotum morphology, Crypt... |
ORPHA:199310 |
| Ovarian Fibroma |
|
Abnormality of the ovary, Ovarian fibroma, Gonadal calcification |
ORPHA:314473 |
| Ovarian Fibrothecoma |
|
Abnormality of the ovary, Gonadal calcification, Metrorrhagia, Abnormal endometrium morphology, O... |
ORPHA:314478 |
| Retinitis Pigmentosa 87 With Choroidal Involvement |
|
Pigmentary retinopathy, Nummular pigmentation of the fundus, Chorioretinal atrophy, Bone spicule ... |
OMIM:618697 |
| Coloboma Of Optic Nerve |
|
Retinal detachment, Optic disc coloboma |
OMIM:120430 |
| Coats Disease |
|
Leukocoria, Retinal telangiectasia, Exudative retinal detachment |
OMIM:300216 |
| Premature Ovarian Failure 6 |
|
Elevated circulating luteinizing hormone level, Female infertility, Streak ovary, Elevated circul... |
OMIM:612310 |
| Retinal Dystrophy And Iris Coloboma With Or Without Cataract |
|
Iris coloboma, Retinal atrophy, Posterior synechiae of the anterior chamber, Developmental cataract |
OMIM:616722 |
| Ovarian Dysgenesis 3 |
|
Elevated circulating luteinizing hormone level, Female infertility, Aplasia of the ovary, Elevate... |
OMIM:614324 |
| Satoyoshi Syndrome |
|
Abnormality of the uterus, Abnormality of the ovary, Amenorrhea, Hypoplasia of the ovary, Hypopla... |
ORPHA:3130 |
| Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Male hypogonadism, Abnormality of the Leydig cells, Azoospermia, Ovarian cyst, Hypogonadotropic h... |
OMIM:228300 |
| Fraser-Like Syndrome |
|
Ovarian cyst |
OMIM:229230 |
| Burkitt Lymphoma |
|
Abnormality of the ovary |
ORPHA:543 |
| Müllerian Aplasia And Hyperandrogenism |
|
Abnormality of the ovary, Hypoplasia of the uterus, Abnormal vagina morphology, Primary amenorrhea |
ORPHA:247768 |
| Functioning Gonadotropic Adenoma |
|
Impotence, Pituitary gonadotropic cell adenoma, Decreased response to growth hormone stimulation ... |
ORPHA:91348 |
| Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Hematocolpos, Abnormal female external genitalia morphology, Aplasia of the vagina, Polycystic ov... |
OMIM:277000 |
| Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged polycystic ovaries, Elevated circulating growth hormone concentration, Polycystic ovaries |
ORPHA:90301 |
| 46,Xy Sex Reversal 7 |
|
Sex reversal, Hypoplasia of the fallopian tube, Streak ovary, Abnormal epididymis morphology, Gon... |
OMIM:233420 |
| Oocyte/Zygote/Embryo Maturation Arrest 18 |
|
Female infertility |
OMIM:620332 |
| Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Ectopic ovary, Aplasia of the ovary, Endometriosis, Aplasia of the uterus, Dyspareunia, Primary a... |
ORPHA:3109 |
| Hypoplasminogenemia |
|
Abnormality of the ovary, Abnormal fallopian tube morphology, Cervicitis |
ORPHA:722 |
| 46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased testicular size, De... |
ORPHA:90796 |
| Congenital Factor Vii Deficiency |
|
Menorrhagia, Ovarian cyst |
ORPHA:327 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Irregular menstruation, Elevated circulating luteinizing hormone level, Male hypogonadism, Precoc... |
ORPHA:90793 |
| Familial Adenomatous Polyposis 4 |
|
Ovarian cyst, Uterine leiomyoma |
OMIM:617100 |
| Bardet-Biedl Syndrome 1 |
|
Abnormality of the ovary, Decreased testicular size, Hypogonadism, Vaginal atresia, Micropenis |
OMIM:209900 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Elevated circulating luteinizing hormone level, Abnormal male external genitalia morphology, Abno... |
ORPHA:95699 |
| Turner Syndrome |
|
Female infertility, Abnormality of the ovary, Premature ovarian insufficiency, Primary amenorrhea... |
ORPHA:881 |
| Mosaic Monosomy X |
|
Female infertility, Abnormality of the ovary, Premature ovarian insufficiency, Primary amenorrhea... |
ORPHA:99228 |
| Monosomy X |
|
Female infertility, Abnormality of the ovary, Premature ovarian insufficiency, Primary amenorrhea... |
ORPHA:99226 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Female infertility, Abnormality of the ovary, Premature ovarian insufficiency, Primary amenorrhea... |
ORPHA:99413 |
| Hydatidiform Mole, Recurrent, 1 |
|
|
OMIM:231090 |
