| Retinal Dysplasia, Primary |
|
Falciform retinal fold, Retinal dysplasia |
OMIM:312550 |
| Choroidal Dystrophy, Central Areolar, 1 |
|
Chorioretinal atrophy, Choriocapillaris atrophy, Pigmentary retinopathy |
OMIM:215500 |
| Stargardt Disease 1 |
|
Macular degeneration, Retinitis pigmentosa inversa, 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, Ambiguous genitalia, Polycystic ovaries, Male hypogonadism |
ORPHA:393 |
| Night Blindness, Congenital Stationary, Type 1D |
|
Congenital stationary night blindness, Attenuation of retinal blood vessels, Macular atrophy, Pig... |
OMIM:613830 |
| Iris Pigment Layer, Cleavage Of |
|
Cataract, Peripheral retinal detachment |
OMIM:147610 |
| Exudative Vitreoretinopathy 7 |
|
Retinal detachment, Exudative vitreoretinopathy, Retinal degeneration, Retinal hole, Retinal fold |
OMIM:617572 |
| Familial Hyperprolactinemia |
|
Hemorrhagic ovarian cyst, Infertility, Female hypogonadism, Oligomenorrhea, Menorrhagia, Amenorrhea |
ORPHA:397685 |
| Cataract 50 With Or Without Glaucoma |
|
Retinal detachment, Persistent pupillary membrane, Cataract |
OMIM:620253 |
| Exudative Vitreoretinopathy 3 |
|
Retinal exudate, Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold |
OMIM:605750 |
| Spermatogenic Failure 12 |
|
Infertility, Abnormal male germ cell morphology, Azoospermia |
OMIM:615413 |
| Gonadoblastoma |
|
Female external genitalia in individual with 46,XY karyotype, Abnormality of the ovary, Ovarian g... |
ORPHA:206484 |
| Vitreoretinal Degeneration, Snowflake Type |
|
Retinal detachment, Retinal dots, Corneal guttata, Optically empty vitreous, Cataract, Snowflake ... |
OMIM:193230 |
| Retinoschisis 1, X-Linked, Juvenile |
|
Retinal detachment, Retinal atrophy, Retinoschisis, Peripheral cystoid retinal degeneration, Reti... |
OMIM:312700 |
| 46,Xy Complete Gonadal Dysgenesis |
|
Polycystic ovaries, Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis |
ORPHA:242 |
| Hepatic Adenomas, Familial |
|
Polycystic ovaries |
OMIM:142330 |
| Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Decreased testicular size, Abnormality of the ovary, Hypogonadism |
ORPHA:1875 |
| Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Retinal detachment, Peripheral vitreoretinal degeneration, Vitreous floaters, Lattice retinal deg... |
OMIM:614292 |
| Myopia 28, Autosomal Recessive |
|
Retinal detachment, Cataract |
OMIM:619781 |
| Retinitis Pigmentosa 13 |
|
Bone spicule pigmentation of the retina, Asteroid hyalosis, Cystoid macular edema, Optic disc dru... |
OMIM:600059 |
| Testicular Regression Syndrome |
|
Abnormal male internal genitalia morphology, Aplasia/Hypoplasia of the testes, Hypoplasia of peni... |
ORPHA:983 |
| Stickler Syndrome Type 2 |
|
Abnormal vitreous humor morphology, Retinal detachment, Corneal opacity, Retinopathy, Cataract |
ORPHA:90654 |
| 46,Xx Ovotesticular Difference Of Sex Development |
|
Abnormal male internal genitalia morphology, Hypospadias, Hypoplasia of penis, Abnormal scrotal r... |
ORPHA:2138 |
| Xp22.3 Microdeletion Syndrome |
|
Secondary amenorrhea, Polycystic ovaries, Decreased fertility, Hypogonadotropic hypogonadism |
ORPHA:1643 |
| Cataract 21, Multiple Types |
|
Retinal detachment, Microcornea, Corneal opacity, Cortical pulverulent cataract, Cerulean catarac... |
OMIM:610202 |
| Aromatase Deficiency |
|
Female pseudohermaphroditism, Primary amenorrhea, Ovarian cyst, Hypergonadotropic hypogonadism |
OMIM:613546 |
| Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
|
Precocious puberty, Polycystic ovaries, Hypergonadotropic hypogonadism |
ORPHA:2229 |
| Premature Ovarian Failure 5 |
|
Premature ovarian insufficiency, Hypoplasia of the ovary, Reduced antral follicle count, Secondar... |
OMIM:611548 |
| Fowler Urethral Sphincter Dysfunction Syndrome |
|
Abnormality of the ovary, Oligomenorrhea, Menorrhagia, Amenorrhea, Polycystic ovaries |
ORPHA:2795 |
| Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
| Tetragametic Chimerism |
|
Clitoral hypertrophy, Ovotestis, Bifid scrotum, Abnormal testis morphology, Abnormality of the ov... |
ORPHA:199310 |
| Polycystic Ovary Syndrome 1 |
|
Oligomenorrhea, Amenorrhea, Enlarged polycystic ovaries |
OMIM:184700 |
| Ovarian Fibroma |
|
Gonadal calcification, Ovarian fibroma, Abnormality of the ovary |
ORPHA:314473 |
| Ovarian Fibrothecoma |
|
Ovarian fibroma, Abnormality of the ovary, Abnormal endometrium morphology, Gonadal calcification... |
ORPHA:314478 |
| Ectopia Lentis Et Pupillae |
|
Iris transillumination defect, Retinal detachment, Persistent pupillary membrane, Ectopia lentis,... |
OMIM:225200 |
| Retinitis Pigmentosa 87 With Choroidal Involvement |
|
Nummular pigmentation of the fundus, Chorioretinal atrophy, Bone spicule pigmentation of the reti... |
OMIM:618697 |
| Premature Ovarian Failure 6 |
|
Premature ovarian insufficiency, Secondary amenorrhea, Elevated circulating follicle stimulating ... |
OMIM:612310 |
| Coloboma Of Optic Nerve |
|
Retinal detachment, Optic disc coloboma |
OMIM:120430 |
| Coats Disease |
|
Retinal telangiectasia, Exudative retinal detachment, Leukocoria |
OMIM:300216 |
| Retinal Dystrophy And Iris Coloboma With Or Without Cataract |
|
Iris coloboma, Retinal atrophy, Developmental cataract, Posterior synechiae of the anterior chamber |
OMIM:616722 |
| Ovarian Dysgenesis 3 |
|
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... |
OMIM:614324 |
| Satoyoshi Syndrome |
|
Hypoplasia of the ovary, Abnormality of the ovary, Abnormality of the uterus, Amenorrhea, Hypopla... |
ORPHA:3130 |
| Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Azoospermia, Secondary amenorrhea, Testicular microlithiasis, Abnormal spermatogenesis, Abnormali... |
OMIM:228300 |
| Fraser-Like Syndrome |
|
Ovarian cyst |
OMIM:229230 |
| Premature Ovarian Failure 9 |
|
Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated circulating follicle stimulati... |
OMIM:615724 |
| Burkitt Lymphoma |
|
Abnormality of the ovary |
ORPHA:543 |
| Müllerian Aplasia And Hyperandrogenism |
|
Primary amenorrhea, Hypoplasia of the uterus, Abnormality of the ovary, Abnormal vagina morphology |
ORPHA:247768 |
| Functioning Gonadotropic Adenoma |
|
Isosexual precocious puberty, Decreased response to growth hormone stimulation test, Pituitary go... |
ORPHA:91348 |
| Partial Androgen Insensitivity Syndrome |
|
Blind vagina, Clitoral hypertrophy, Male infertility, Hypospadias, Azoospermia, Aplasia of the ut... |
ORPHA:90797 |
| Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Abnormal female external genitalia morphology, Aplasia of the upper vagina, Aplasia of the vagina... |
OMIM:277000 |
| Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Polycystic ovaries, Enlarged polycystic ovaries, Elevated circulating growth hormone concentration |
ORPHA:90301 |
| 46,Xy Sex Reversal 7 |
|
Streak ovary, Abnormal epididymis morphology, Gonadoblastoma, Hypoplasia of the fallopian tube, P... |
OMIM:233420 |
| Oocyte/Zygote/Embryo Maturation Arrest 18 |
|
Female infertility |
OMIM:620332 |
| Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Endometriosis, Aplasia of the uterus, Ectopic ovary, Dyspareunia, Hypoplasia of the vagina, Prima... |
ORPHA:3109 |
| Hypoplasminogenemia |
|
Cervicitis, Abnormality of the ovary, Abnormal fallopian tube morphology |
ORPHA:722 |
| 46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Female external genitalia in individual with 46,XY karyotype, Ambiguous genitalia, male, Decrease... |
ORPHA:90796 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Blind vagina, Ambiguous genitalia, male, Female external genitalia in individual with 46,XY karyo... |
ORPHA:90793 |
| Familial Adenomatous Polyposis 4 |
|
Uterine leiomyoma, Ovarian cyst |
OMIM:617100 |
| Bardet-Biedl Syndrome 1 |
|
Abnormality of the ovary, Decreased testicular size, Vaginal atresia, Hypogonadism, Micropenis |
OMIM:209900 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Decreased fertility, Abnormal female external genitalia morphology, Hypospadias, Abnormal ovarian... |
ORPHA:95699 |
| Turner Syndrome |
|
Premature ovarian insufficiency, Secondary amenorrhea, Abnormality of the ovary, Female infertili... |
ORPHA:881 |
| Mosaic Monosomy X |
|
Premature ovarian insufficiency, Secondary amenorrhea, Abnormality of the ovary, Female infertili... |
ORPHA:99228 |
| Monosomy X |
|
Premature ovarian insufficiency, Secondary amenorrhea, Abnormality of the ovary, Female infertili... |
ORPHA:99226 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Premature ovarian insufficiency, Secondary amenorrhea, Abnormality of the ovary, Female infertili... |
ORPHA:99413 |
| Hydatidiform Mole, Recurrent, 1 |
|
|
OMIM:231090 |
