Partial Chromosome Y Deletion |
|
Abnormal spermatogenesis, Decreased testicular size, Non-obstructive azoospermia, Oligospermia, M... |
ORPHA:1646 |
Spermatogenic Failure 25 |
|
Decreased testicular size, Early spermatogenesis maturation arrest, Cryptozoospermia, Male infert... |
OMIM:617960 |
Spermatogenic Failure 30 |
|
Spermatogenesis maturation arrest, Azoospermia, Cryptozoospermia, Male infertility, Cryptorchidism |
OMIM:618110 |
Spermatogenic Failure 50 |
|
Spermatogenesis maturation arrest, Male infertility, Azoospermia, Decreased testicular size |
OMIM:619145 |
Spermatogenic Failure 57 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia, Decreased testi... |
OMIM:619528 |
Spermatogenic Failure 32 |
|
Sertoli cell-only phenotype, Male infertility, Non-obstructive azoospermia |
OMIM:618115 |
Spermatogenic Failure 71 |
|
Sertoli cell-only phenotype, Male infertility, Non-obstructive azoospermia |
OMIM:619831 |
Isochromosomy Yp |
|
Primary gonadal insufficiency, Ambiguous genitalia, Decreased testicular size, Azoospermia, Male ... |
ORPHA:98797 |
Isochromosomy Yq |
|
Gonadal tissue inappropriate for external genitalia or chromosomal sex, Primary gonadal insuffici... |
ORPHA:98798 |
Amyloidosis, Cutaneous Bullous |
|
Amyloidosis |
OMIM:204900 |
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Abnormal spermatogenesis, Decreased testicular size, Azoospermia, Non-obstructive azoospermia, In... |
ORPHA:399805 |
Spermatogenic Failure 48 |
|
Spermatogenesis maturation arrest, Oligospermia, Male infertility, Azoospermia |
OMIM:619108 |
Spermatogenic Failure 8 |
|
Oligospermia, Cryptozoospermia, Azoospermia |
OMIM:613957 |
Spermatogenic Failure 62 |
|
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619672 |
Spermatogenic Failure 12 |
|
Abnormal male germ cell morphology, Infertility, Azoospermia |
OMIM:615413 |
Spermatogenic Failure 73 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619878 |
Spermatogenic Failure 59 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619646 |
Spermatogenic Failure 74 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619937 |
Spermatogenic Failure 70 |
|
Oligospermia, Reduced sperm motility, Azoospermia, Male infertility |
OMIM:619828 |
Spermatogenic Failure 22 |
|
Cryptozoospermia, Male infertility, Non-obstructive azoospermia |
OMIM:617706 |
Spermatogenic Failure 4 |
|
Male infertility, Azoospermia |
OMIM:270960 |
Spermatogenic Failure, X-Linked, 2 |
|
Spermatogenesis maturation arrest, Testicular atrophy, Male infertility, Azoospermia |
OMIM:309120 |
Spermatogenic Failure 29 |
|
Male infertility, Immotile sperm, Non-obstructive azoospermia |
OMIM:618091 |
Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
Spermatogenic Failure, Y-Linked, 2 |
|
Male infertility, Azoospermia |
OMIM:415000 |
Spermatogenic Failure 23 |
|
Male infertility, Azoospermia |
OMIM:617707 |
Oliver-Mcfarlane Syndrome |
|
Alopecia, Decreased response to growth hormone stimulation test, Small for gestational age, Retin... |
OMIM:275400 |
Female Infertility Due To Oocyte Meiotic Arrest |
|
Abnormal spermatogenesis, Female infertility, Oocyte arrest at metaphase I, Polycystic ovaries, A... |
ORPHA:488191 |
Stargardt Disease 1 |
|
Retinitis pigmentosa inversa, Macular degeneration, Bull's eye maculopathy |
OMIM:248200 |
Retinitis Pigmentosa Inversa With Deafness |
|
External genital hypoplasia, Rod-cone dystrophy, Retinitis pigmentosa inversa |
OMIM:268010 |
Spermatogenic Failure 51 |
|
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Macroceph... |
OMIM:619177 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Globozoospermia, Abnormal sperm tail morphology, Abnormal spermatogenesis, Decreased testicular s... |
ORPHA:399808 |
Macular Degeneration, Age-Related, 13 |
|
Macular scar, Macular degeneration, Choroidal neovascularization, Drusen |
OMIM:615439 |
Spermatogenic Failure 65 |
|
Absent sperm flagella, Abnormal sperm mid-piece morphology, Short sperm flagella, Reduced sperm m... |
OMIM:619712 |
Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
Spermatogenic Failure 63 |
|
Decreased testicular size, Oligospermia, Male infertility, Reduced progressive sperm motility |
OMIM:619689 |
Deleted in azoospermia |
|
Azoospermia |
OMIM:400003 |
Spermatogenic Failure 13 |
|
Azoospermia |
OMIM:615841 |
Young Syndrome |
|
Decreased fertility, Obstructive azoospermia |
ORPHA:3471 |
Spermatogenic Failure 54 |
|
Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospermia, Cryptozoospermia,... |
OMIM:619379 |
Amyloidosis, Primary Localized Cutaneous, 2 |
|
Cutaneous amyloidosis |
OMIM:613955 |
Spermatogenic Failure, X-Linked, 3 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... |
OMIM:301059 |
Ring Chromosome Y Syndrome |
|
Urogenital sinus anomaly, Ambiguous genitalia, Gonadoblastoma, Abnormal spermatogenesis, Ambiguou... |
ORPHA:261529 |
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole |
|
Reticular pigmentary degeneration, Retinal dystrophy, Drusen |
OMIM:267800 |
Spermatogenic Failure 56 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... |
OMIM:619515 |
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
Male hypogonadism, Azoospermia |
OMIM:241000 |
Hyperleucine-Isoleucinemia |
|
Failure to thrive, Retinal degeneration |
OMIM:238340 |
Retinoschisis 1, X-Linked, Juvenile |
|
Retinal pigment epithelial atrophy, Vitreous hemorrhage, Retinal atrophy, Retinal degeneration, M... |
OMIM:312700 |
Bardet-Biedl Syndrome 4 |
|
Rod-cone dystrophy, Hypogonadism, External genital hypoplasia, Retinal degeneration, Cryptorchidi... |
OMIM:615982 |
Spermatogenic Failure 40 |
|
Absent sperm flagella, Short sperm flagella, Oligospermia, Male infertility, Coiled sperm flagell... |
OMIM:618664 |
Spermatogenic Failure 76 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... |
OMIM:620084 |
Spermatogenic Failure 39 |
|
Absent sperm flagella, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospe... |
OMIM:618643 |
Spermatogenic Failure 77 |
|
Azoospermia, Oligospermia, Male infertility, Abnormal circulating testosterone concentration, Abn... |
OMIM:620103 |
Retinitis Pigmentosa 36 |
|
Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of... |
OMIM:610599 |
Male Infertility Due To Acephalic Spermatozoa |
|
Abnormal sperm mid-piece morphology, Androgen insufficiency, Reduced sperm motility, Oligospermia... |
ORPHA:529970 |
Spermatogenic Failure 58 |
|
Short sperm flagella, Oligospermia, Irregularly shaped sperm tail, Male infertility, Reduced prog... |
OMIM:619585 |
Spermatogenic Failure 2 |
|
Azoospermia, Non-obstructive azoospermia, Oligospermia, Male infertility, Abnormal circulating te... |
OMIM:108420 |
Macular Dystrophy, Retinal, 1, North Carolina Type |
|
Peripheral retinal atrophy, Drusen, Macular dystrophy, Abnormality of macular pigmentation |
OMIM:136550 |
Spermatogenic Failure 47 |
|
Absent sperm flagella, Short sperm flagella, Oligospermia, Male infertility, Immotile sperm |
OMIM:619102 |
Macular Dystrophy, Patterned, 3 |
|
Choroidal neovascularization, Rod-cone dystrophy, Macular atrophy |
OMIM:617111 |
Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Retinal pigment epithelial atrophy, Pigmentary retinopathy, Hyporeflective spaces on macular OCT,... |
ORPHA:59181 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Female hypogonadism, Gonadotropin deficiency, Decreased serum estradiol, Decreased testicular siz... |
ORPHA:52901 |
Cone-Rod Dystrophy 7 |
|
Macular atrophy, Bull's eye maculopathy, Cone/cone-rod dystrophy |
OMIM:603649 |
Late-Onset Retinal Degeneration |
|
Retinopathy, Sub-RPE deposits, Retinal degeneration, Choroidal neovascularization, Chorioretinal ... |
OMIM:605670 |
Spermatogenic Failure 41 |
|
Tapered sperm head, Short sperm flagella, Oligospermia, Male infertility, Immotile sperm |
OMIM:618670 |
Exudative Vitreoretinopathy 7 |
|
Exudative vitreoretinopathy, Retinal fold, Retinal hole, Retinal degeneration, Retinal detachment |
OMIM:617572 |
Spermatogenic Failure 1 |
|
Oligospermia, Cryptozoospermia, Male infertility |
OMIM:258150 |
Retinitis Pigmentosa 48 |
|
Macular degeneration, Rod-cone dystrophy |
OMIM:613827 |
Bardet-Biedl Syndrome 2 |
|
Rod-cone dystrophy, Hypogonadism, External genital hypoplasia, Retinal degeneration, Diabetes mel... |
OMIM:615981 |
Doyne Honeycomb Retinal Dystrophy |
|
Reticular pigmentary degeneration, Retinal dystrophy |
OMIM:126600 |
Spermatogenic Failure 11 |
|
Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility |
OMIM:615081 |
Spermatogenic Failure 10 |
|
Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility |
OMIM:614822 |
Macular Dystrophy, Retinal, 2 |
|
Retinal pigment epithelial atrophy, Granular macular appearance, Perifoveal ring of hyperautofluo... |
OMIM:608051 |
Spinocerebellar Ataxia Type 32 |
|
Testicular atrophy, Male infertility, Azoospermia |
ORPHA:276183 |
Spinocerebellar Ataxia 32 |
|
Testicular atrophy, Infertility, Azoospermia |
OMIM:613909 |
Stargardt Disease 3 |
|
Macular flecks, Macular atrophy, Macular dystrophy |
OMIM:600110 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Spermatocele, Male infertility, Obstructive azoospermia |
OMIM:301060 |
46,Xx Testicular Disorder Of Sex Development |
|
Male hypogonadism, Ambiguous genitalia, Polycystic ovaries, Decreased testicular size |
ORPHA:393 |
Bardet-Biedl Syndrome 16 |
|
Rod-cone dystrophy, Hypogonadism, External genital hypoplasia, Retinal degeneration, Obesity |
OMIM:615993 |
Spermatogenic Failure 75 |
|
Early spermatogenesis maturation arrest, Elevated circulating follicle stimulating hormone level,... |
OMIM:619949 |
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Hypogonadism, Decreased testicu... |
OMIM:229070 |
Macular Degeneration, Early-Onset |
|
Macular degeneration, Choroidal neovascularization |
OMIM:616118 |
Spermatogenic Failure 7 |
|
Oligospermia, Male infertility, Reduced sperm motility, Immotile sperm |
OMIM:612997 |
Premature Ovarian Failure 10 |
|
Hypothyroidism, Decreased testicular size, Premature ovarian insufficiency, Azoospermia, Hypoplas... |
OMIM:612885 |
Macular Dystrophy, Vitelliform, 2 |
|
Cystoid macular degeneration, Macular dystrophy, Subretinal fluid |
OMIM:153700 |
Stargardt Disease 4 |
|
Retinal flecks, Macular degeneration |
OMIM:603786 |
Leber Congenital Amaurosis 19 |
|
Retinal degeneration, Optic disc pallor, Attenuation of retinal blood vessels |
OMIM:618513 |
Cone-Rod Dystrophy 22 |
|
Retinal pigment epithelial atrophy, Hyperautofluorescent macular lesion, Attenuation of retinal b... |
OMIM:619531 |
Spermatogenic Failure 15 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Abnormal circul... |
OMIM:616950 |
Myeloma, Multiple |
|
Amyloidosis |
OMIM:254500 |
Retinopathy, Pericentral Pigmentary, Dominant |
|
Retinopathy, Retinal atrophy, Retinal dystrophy, Bone spicule pigmentation of the retina, Attenua... |
OMIM:180210 |
Familial Hyperprolactinemia |
|
Female hypogonadism, Hemorrhagic ovarian cyst, Infertility, Menorrhagia, Oligomenorrhea, Amenorrhea |
ORPHA:397685 |
Spermatogenic Failure 64 |
|
Reduced progressive sperm motility, Oligospermia, Male infertility, Abnormal sperm head morphology |
OMIM:619696 |
Spermatogenic Failure 28 |
|
Decreased testicular size, Decreased serum testosterone concentration, Male infertility, Elevated... |
OMIM:618086 |
Retinitis Pigmentosa 31 |
|
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:609923 |
Bothnia Retinal Dystrophy |
|
Retinal pigment epithelial atrophy, Increased OCT-measured foveal thickness, Rod-cone dystrophy, ... |
ORPHA:85128 |
Retinal Degeneration And Epilepsy |
|
Retinal degeneration |
OMIM:267740 |
Night Blindness, Congenital Stationary, Type 1D |
|
Congenital stationary night blindness, Macular atrophy, Pigmentary retinopathy, Attenuation of re... |
OMIM:613830 |
Liberfarb Syndrome |
|
Retinal degeneration, Retinal pigment epithelial mottling, Optic disc pallor, Bone spicule pigmen... |
OMIM:618889 |
Macular Degeneration, Age-Related, 11 |
|
Macular degeneration |
OMIM:611953 |
Atrophia Maculosa Varioliformis Cutis, Familial |
|
Macular atrophy |
OMIM:601341 |
Macular Degeneration, Age-Related, 4 |
|
Macular degeneration |
OMIM:610698 |
Macular Degeneration, Age-Related, 6 |
|
Macular degeneration |
OMIM:613757 |
Macular Degeneration, Age-Related, 15 |
|
Macular degeneration |
OMIM:615591 |
Macular Degeneration, Age-Related, 2 |
|
Macular degeneration |
OMIM:153800 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Testicular microlithiasis, Abnormal spermatogenesis, Secondary amenorrhea, Decreased circulating ... |
OMIM:228300 |
Hypogonadism, Male |
|
Male hypogonadism, Testicular atrophy, Hypospadias, Micropenis |
OMIM:241100 |
Retinitis Pigmentosa 32 |
|
Retinal degeneration, Bone spicule pigmentation of the retina, Attenuation of retinal blood vesse... |
OMIM:609913 |
Retinitis Pigmentosa 70 |
|
Rod-cone dystrophy, Retinal degeneration, Macular degeneration, Attenuation of retinal blood vess... |
OMIM:615922 |
Morbid Obesity And Spermatogenic Failure |
|
Type II diabetes mellitus, Infertility, Azoospermia, Oligospermia, Obesity |
OMIM:615703 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Sparse facial hair, Azoospermia, Absent facial hair, Hypergonadotropic hypogonadism, Low posterio... |
ORPHA:2183 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration, Decreased t... |
OMIM:614837 |
Macular Dystrophy, Retinal, 3 |
|
Retinal pigment epithelial atrophy, Macular drusen |
OMIM:608850 |
Retinal Cone Dystrophy 1 |
|
Retinal degeneration, Bull's eye maculopathy, Cone/cone-rod dystrophy |
OMIM:180020 |
Cone-Rod Dystrophy 11 |
|
Macular degeneration, Macular atrophy, Bull's eye maculopathy, Cone/cone-rod dystrophy |
OMIM:610381 |
Macular Degeneration, Atrophic, X-Linked |
|
Macular degeneration |
OMIM:300834 |
Young Syndrome |
|
Azoospermia |
OMIM:279000 |
Central Areolar Choroidal Dystrophy |
|
Choriocapillaris atrophy, Hyperautofluorescent macular lesion, Retinal pigment epithelial mottlin... |
ORPHA:75377 |
Spermatogenic Failure 38 |
|
Absent sperm flagella, Tapered sperm head, Abnormal axonemal organization of respiratory motile c... |
OMIM:618433 |
Wagner Vitreoretinopathy |
|
Retinal pigment epithelial atrophy, Exudative vitreoretinopathy, Optic atrophy, Vitreoretinopathy... |
OMIM:143200 |
Adrenal Hypoplasia, Congenital |
|
Precocious puberty, Decreased circulating aldosterone level, Adrenal insufficiency, Decreased cir... |
OMIM:300200 |
Androgen Insensitivity, Partial |
|
Hypogonadism, Bifid scrotum, Perineal hypospadias, Infertility, Azoospermia, Male pseudohermaphro... |
OMIM:312300 |
Morm Syndrome |
|
Retinal atrophy, Retinal dystrophy, Micropenis, Truncal obesity |
ORPHA:75858 |
Retinitis Pigmentosa 33 |
|
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ... |
OMIM:610359 |
Familial Drusen |
|
Macular drusen, Hypoautofluorescent macular lesion, Hyperautofluorescent macular lesion, Macular ... |
ORPHA:75376 |
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration, Decreased s... |
OMIM:614897 |
Congenital Bilateral Absence Of Vas Deferens |
|
Oligospermia, Absent vas deferens, Male infertility, Obstructive azoospermia |
ORPHA:48 |
Peripheral Cone Dystrophy |
|
Cone/cone-rod dystrophy, Peripheral retinal degeneration, Optic atrophy, Optic disc pallor |
OMIM:609021 |
Macular Degeneration, Age-Related, 1 |
|
Macular drusen, Macular hemorrhage, Macular degeneration, Choroidal neovascularization, Foveal hy... |
OMIM:603075 |
Retinal Dystrophy And Obesity |
|
Retinal pigment epithelial atrophy, Peripapillary atrophy, Retinal dots, Retinal dystrophy, Atten... |
OMIM:616188 |
Spermatogenic Failure 14 |
|
Azoospermia, Late spermatogenesis maturation arrest, Abnormal prolactin level, Male infertility, ... |
OMIM:615842 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Decreased testicular size, Hypo... |
OMIM:308700 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Impotence, Primary amenorrhea, Hypoplasia of the uterus, Sparse body hair, Eunuchoid habitus, Del... |
ORPHA:432 |
Retinitis Pigmentosa 11 |
|
Rod-cone dystrophy, Macular edema, Macular degeneration, Macular atrophy, Bone spicule pigmentati... |
OMIM:600138 |
Retinitis Pigmentosa 13 |
|
Rod-cone dystrophy, Optic disc drusen, Asteroid hyalosis, Retinal degeneration, Bone spicule pigm... |
OMIM:600059 |
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Absent vas deferens, Male infertility, Azoospermia |
OMIM:300985 |
Vas Deferens, Congenital Bilateral Aplasia Of |
|
Absent vas deferens, Male infertility, Azoospermia |
OMIM:277180 |
Ceroid Lipofuscinosis, Neuronal, 6A |
|
Retinal degeneration |
OMIM:601780 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Retinal degeneration |
OMIM:251700 |
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development |
|
Amyloidosis |
OMIM:204850 |
Leber Congenital Amaurosis With Early-Onset Deafness |
|
Retinal degeneration, Retinal pigment epithelial mottling, Peripapillary atrophy |
OMIM:617879 |
Usher Syndrome, Type Iv |
|
Retinal atrophy, Retinal degeneration, Bone spicule pigmentation of the retina, Hyperautofluoresc... |
OMIM:618144 |
Spondylometaphyseal Dysplasia, Axial |
|
Rod-cone dystrophy, Optic atrophy, Cone/cone-rod dystrophy, Retinal degeneration, Reduced sperm m... |
OMIM:602271 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Decreased testicular size, Abnormality of the ovary, Hypogonadism |
ORPHA:1875 |
Retinitis Pigmentosa 81 |
|
Retinal pigment epithelial atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, A... |
OMIM:617871 |
Retinitis Pigmentosa 73 |
|
Rod-cone dystrophy, Peripapillary atrophy, Macular crystals, Retinal atrophy, Bone spicule pigmen... |
OMIM:616544 |
Premature Ovarian Failure 5 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the ovary, Reduced antral fo... |
OMIM:611548 |
Best Vitelliform Macular Dystrophy |
|
Cystoid macular degeneration, Choroideremia |
ORPHA:1243 |
Stargardt Disease |
|
Retinal pigment epithelial atrophy, Abnormal foveal morphology, Retinal thinning, Abnormal choroi... |
ORPHA:827 |
Retinitis Pigmentosa 68 |
|
Retinal atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina |
OMIM:615725 |
Spermatogenic Failure, X-Linked, 4 |
|
Azoospermia, Abnormal prolactin level, Male infertility, Elevated circulating luteinizing hormone... |
OMIM:301077 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H |
|
Macular degeneration |
OMIM:619764 |
Retinitis Pigmentosa 4 |
|
Rod-cone dystrophy, Retinal atrophy, Bone spicule pigmentation of the retina, Attenuation of reti... |
OMIM:613731 |
46,Xy Partial Gonadal Dysgenesis |
|
Ambiguous genitalia, Gonadoblastoma, Adrenal insufficiency, Increased circulating gonadotropin le... |
ORPHA:251510 |
Partial Androgen Insensitivity Syndrome |
|
Ambiguous genitalia, Male sexual dysfunction, Blind vagina, Primary amenorrhea, Increased circula... |
ORPHA:90797 |
46,Xy Complete Gonadal Dysgenesis |
|
Hypogonadotropic hypogonadism, Polycystic ovaries, Male pseudohermaphroditism, Testicular dysgenesis |
ORPHA:242 |
Retinitis Pigmentosa 38 |
|
Peripheral retinal atrophy, Rod-cone dystrophy, Macular atrophy, Optic disc pallor |
OMIM:613862 |
Familial Male-Limited Precocious Puberty |
|
Macroorchidism, Precocious puberty, Long penis, Oligospermia, Male infertility, Abnormal hair mor... |
ORPHA:3000 |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Retinal degeneration, Cystoid macular degeneration, Macular atrophy |
OMIM:267760 |
Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Retinal degeneration, Optic atrophy |
OMIM:614322 |
Cone-Rod Dystrophy 5 |
|
Retinal pigment epithelial mottling, Macular degeneration, Cone/cone-rod dystrophy |
OMIM:600977 |
Hemochromatosis, Type 2A |
|
Hypogonadotropic hypogonadism, Infertility, Azoospermia, Amenorrhea |
OMIM:602390 |
Bardet-Biedl Syndrome 21 |
|
Rod-cone dystrophy, Retinal thinning, Cone/cone-rod dystrophy, Retinal atrophy, Hyperautofluoresc... |
OMIM:617406 |
Retinitis Pigmentosa 90 |
|
Retinal pigment epithelial atrophy, Bone spicule pigmentation of the retina, Attenuation of retin... |
OMIM:619007 |
Macular Dystrophy, Vitelliform, 3 |
|
Choroidal neovascularization, Macular atrophy, Vitelliform-like macular lesions, Drusen, Macular ... |
OMIM:608161 |
Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Azoospermia, Hypergonadotropic hypogonadism |
OMIM:613724 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Ambiguous genitalia,... |
ORPHA:90791 |
Senior-Loken Syndrome 7 |
|
Retinal degeneration |
OMIM:613615 |
Ceroid Lipofuscinosis, Neuronal, 3 |
|
Retinal degeneration, Macular degeneration, Rod-cone dystrophy, Optic atrophy |
OMIM:204200 |
Bothnia Retinal Dystrophy |
|
Retinal dystrophy, Macular degeneration |
OMIM:607475 |
Nephronophthisis 15 |
|
Retinal degeneration, Obesity |
OMIM:614845 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Low posterior hairline, Aplasia/hypoplasia of the uterus, Azoospermia, Bicornuate uterus |
ORPHA:2578 |
Bardet-Biedl Syndrome 9 |
|
Irregular menstruation, Rod-cone dystrophy, Retinal degeneration, Bone spicule pigmentation of th... |
OMIM:615986 |
Bestrophinopathy, Autosomal Recessive |
|
Retinal pigment epithelial atrophy, Retinal flecks |
OMIM:611809 |
Ceroid Lipofuscinosis, Neuronal, 2 |
|
Retinal degeneration |
OMIM:204500 |
47,Xyy Syndrome |
|
Macroorchidism, Increased serum testosterone level, Azoospermia, Oligospermia, Increased circulat... |
ORPHA:8 |
Retinitis Pigmentosa 88 |
|
Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of retinal blood vesse... |
OMIM:618826 |
Cone-Rod Dystrophy 16 |
|
Rod-cone dystrophy, Cone/cone-rod dystrophy, Macular atrophy, Bone spicule pigmentation of the re... |
OMIM:614500 |
Achromatopsia |
|
Retinal pigment epithelial atrophy, Abnormal macular morphology, Retinal pigment epithelial mottl... |
ORPHA:49382 |
49,Xyyyy Syndrome |
|
Primary gonadal insufficiency, Abnormality of the testis size, External genital hypoplasia, Decre... |
ORPHA:99330 |
Fowler Urethral Sphincter Dysfunction Syndrome |
|
Abnormality of the ovary, Polycystic ovaries, Menorrhagia, Oligomenorrhea, Abnormality of the ure... |
ORPHA:2795 |
Central Retinal Vein Occlusion |
|
Macular edema, Retinal vascular tortuosity, Macular degeneration, Epiretinal membrane, Retinal ne... |
ORPHA:411527 |
Perrault Syndrome 6 |
|
Irregular menstruation, Secondary amenorrhea, Premature ovarian insufficiency, Primary amenorrhea... |
OMIM:617565 |
Retinitis Pigmentosa 19 |
|
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ... |
OMIM:601718 |
Bietti Crystalline Dystrophy |
|
Retinal pigment epithelial atrophy, Choriocapillaris atrophy, Retinal thinning, Retinal pigment e... |
ORPHA:41751 |
Ceroid Lipofuscinosis, Neuronal, 1 |
|
Retinal degeneration, Macular degeneration, Optic atrophy |
OMIM:256730 |
Microphthalmia, Isolated 5 |
|
Retinal pigment epithelial atrophy, Optic disc drusen, Foveoschisis, Bone spicule pigmentation of... |
OMIM:611040 |
Ophthalmoplegia, External, And Myopia |
|
Chorioretinal degeneration, Retinal degeneration |
OMIM:311000 |
46,Xx Ovotesticular Disorder Of Sex Development |
|
Decreased fertility, Urogenital sinus anomaly, Ambiguous genitalia, Bifid scrotum, Abnormal male ... |
ORPHA:2138 |
Amyloidosis, Primary Localized Cutaneous, 1 |
|
Amyloidosis |
OMIM:105250 |
Retinitis Pigmentosa 27 |
|
Rod-cone dystrophy, Macular edema, Macular atrophy, Peripapillary chorioretinal atrophy, Choriore... |
OMIM:613750 |
Bardet-Biedl Syndrome 17 |
|
Rod-cone dystrophy, Hypogonadism, Cone/cone-rod dystrophy, Retinal degeneration, Macular atrophy,... |
OMIM:615994 |
46,Xx Disorder Of Sex Development-Skeletal Anomalies Syndrome |
|
Increased size of the clitoris, Ambiguous genitalia, female, Abnormality of the ovary, Abnormalit... |
ORPHA:2975 |
Variant Abeta2M Amyloidosis |
|
Cutaneous amyloidosis, Amyloidosis of peripheral nerves, Cardiac amyloidosis, Renal amyloidosis, ... |
ORPHA:314652 |
46,Xx Sex Reversal 2 |
|
Sex reversal, Hypoplasia of the vagina, Bifid scrotum, True hermaphroditism, Azoospermia, Decreas... |
OMIM:278850 |
Aromatase Deficiency |
|
Female pseudohermaphroditism, Ovarian cyst, Hypergonadotropic hypogonadism, Primary amenorrhea |
OMIM:613546 |
Cone-Rod Dystrophy 13 |
|
Macular degeneration, Cone/cone-rod dystrophy |
OMIM:608194 |
Acys Amyloidosis |
|
Cerebral amyloid angiopathy, Amyloidosis |
ORPHA:100008 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Optic atrophy, Cone/cone-rod dystrophy, Retinal degeneration, Diabetes mellitus, Cryptorchidism |
OMIM:249270 |
Maternal Uniparental Disomy Of Chromosome X |
|
Gonadal tissue inappropriate for external genitalia or chromosomal sex, Primary gonadal insuffici... |
ORPHA:261519 |
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
|
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Retinal dystrophy, Bone spicule pigmentat... |
OMIM:616108 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Decreased response to growth hormone stimulation test, Premature graying of hair, Decreased testi... |
ORPHA:280679 |
Senior-Loken Syndrome 9 |
|
Rod-cone dystrophy, Hypogonadism, Macular degeneration, Retinal dystrophy, Obesity |
OMIM:616629 |
Kennedy Disease |
|
Decreased fertility, Testicular atrophy, Erectile dysfunction, Type II diabetes mellitus |
ORPHA:481 |
X-Linked Neurodegenerative Syndrome, Bertini Type |
|
Macular degeneration |
ORPHA:85334 |
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia |
|
Lattice retinal degeneration, Rhegmatogenous retinal detachment |
OMIM:619248 |
46,Xx Sex Reversal 1 |
|
Sex reversal, Bicornuate uterus, True hermaphroditism, Azoospermia, Hypospadias, Elevated circula... |
OMIM:400045 |
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome |
|
Macular degeneration, Choroidal neovascularization, Cryptorchidism |
ORPHA:404451 |
Retinitis Pigmentosa 84 |
|
Rod-cone dystrophy, Macular atrophy, Bone spicule pigmentation of the retina, Attenuation of reti... |
OMIM:618220 |
Premature Ovarian Failure 6 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Female infertility, Elevated circulating f... |
OMIM:612310 |
Hemochromatosis, Type 1 |
|
Alopecia, Impotence, Azoospermia, Testicular atrophy, Diabetes mellitus, Hypogonadotropic hypogon... |
OMIM:235200 |
Gonadoblastoma |
|
Ambiguous genitalia, Gonadal dysgenesis with female appearance, male, Gonadal calcification, Abno... |
ORPHA:206484 |
Cone Dystrophy 3 |
|
Macular atrophy, Cone/cone-rod dystrophy |
OMIM:602093 |
Diabetes And Deafness, Maternally Inherited |
|
Retinal degeneration, Pigmentary retinopathy, Type II diabetes mellitus |
OMIM:520000 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Retinal detachment, Lattice retinal degeneration, Vitreous floaters, Peripheral vitreoretinal deg... |
OMIM:614292 |
Retinitis Pigmentosa 9 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atrophy, Macular edema |
OMIM:180104 |
Kallmann Syndrome With Spastic Paraplegia |
|
Decreased circulating follicle stimulating hormone concentration, Hypothalamic gonadotropin-relea... |
OMIM:308750 |
48,Xxyy Syndrome |
|
Decreased testicular size, Type II diabetes mellitus, Infertility, Hypoplasia of penis, Azoosperm... |
ORPHA:10 |
Oculorenocerebellar Syndrome |
|
Retinal degeneration |
OMIM:257970 |
Achromatopsia 7 |
|
Hypoplasia of the fovea, Macular atrophy, Absent foveal reflex |
OMIM:616517 |
48,Xyyy Syndrome |
|
Male hypogonadism, Primary gonadal insufficiency, Azoospermia |
ORPHA:99329 |
Amyloidosis, Finnish Type |
|
Cardiac amyloidosis, Generalized amyloid deposition |
OMIM:105120 |
Cone-Rod Dystrophy 15 |
|
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:613660 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Impotence, Small pituitary gland, Increased circulating gonadotropin level, Primary amenorrhea, P... |
ORPHA:2232 |
Macular Degeneration, Age-Related, 3 |
|
Macular degeneration, Choroidal neovascularization, Drusen |
OMIM:608895 |
Intellectual Developmental Disorder With Cardiac Arrhythmia |
|
Retinal degeneration |
OMIM:617173 |
Cone-Rod Dystrophy, X-Linked, 1 |
|
Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling, Hypoautofluorescent macu... |
OMIM:304020 |
Cerebral Amyloid Angiopathy, Cst3-Related |
|
Generalized amyloid deposition |
OMIM:105150 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Decreased response to growth hormone stimulation test, Premature graying of hair, Decreased testi... |
OMIM:300845 |
Retinitis Pigmentosa 77 |
|
Rod-cone dystrophy, Retinal atrophy, Bone spicule pigmentation of the retina, Attenuation of reti... |
OMIM:617304 |
Retinitis Pigmentosa 86 |
|
Retinal pigment epithelial atrophy, Bone spicule pigmentation of the retina, Attenuation of retin... |
OMIM:618613 |
Progressive Bifocal Chorioretinal Atrophy |
|
Chorioretinal dystrophy, Macular atrophy, Pigmentary retinopathy |
ORPHA:75373 |
Retinitis Pigmentosa 80 |
|
Macular atrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels |
OMIM:617781 |
Familial Glucocorticoid Deficiency |
|
Leydig cell neoplasia, Precocious puberty, Decreased circulating aldosterone level, Weight loss, ... |
ORPHA:361 |
Stargardt Macular Degeneration, Absent Or Hypoplastic Corpus Callosum, Mental Retardation, And Dysmorphic Facial Features |
|
Broad eyebrow, Macular degeneration |
OMIM:612948 |
Alg6-Cdg |
|
Rod-cone dystrophy, Retinal degeneration, Puberty and gonadal disorders, Failure to thrive, Incre... |
ORPHA:79320 |
Retinitis Pigmentosa 51 |
|
Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of... |
OMIM:613464 |
Ovarian Fibrothecoma |
|
Gonadal calcification, Abnormality of the ovary, Metrorrhagia, Abnormal endometrium morphology, O... |
ORPHA:314478 |
Premature Ovarian Failure 9 |
|
Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated circulating luteinizing hormon... |
OMIM:615724 |
Ring Chromosome 21 Syndrome |
|
Diabetes insipidus, Infertility, Azoospermia, Amenorrhea |
ORPHA:1445 |
Leber Congenital Amaurosis 4 |
|
Attenuation of retinal blood vessels, Optic disc pallor, Macular atrophy, Cone/cone-rod dystrophy |
OMIM:604393 |
Leber Congenital Amaurosis 9 |
|
Optic atrophy, Retinal dots, Retinal pigment epithelial mottling, Macular atrophy, Bone spicule p... |
OMIM:608553 |
Retinitis Pigmentosa 79 |
|
Optic disc pallor, Macular atrophy, Bone spicule pigmentation of the retina, Attenuation of retin... |
OMIM:617460 |
Cone-Rod Dystrophy 21 |
|
Retinal dystrophy, Macular atrophy |
OMIM:616502 |
Ovarian Dysgenesis 3 |
|
Aplasia of the ovary, Female infertility, Elevated circulating luteinizing hormone level, Primary... |
OMIM:614324 |
Fundus Dystrophy, Pseudoinflammatory, Recessive Form |
|
Retinal hemorrhage, Central retinal exudate, Peripheral retinal degeneration |
OMIM:264420 |
Ciliary Dyskinesia, Primary, 40 |
|
Infertility, Absent outer dynein arms, Azoospermia |
OMIM:618300 |
Retinitis Pigmentosa 10 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... |
OMIM:180105 |
Spastic Paraplegia 11, Autosomal Recessive |
|
Retinal degeneration, Macular degeneration, Obesity |
OMIM:604360 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Hypothyroidism, Ambiguous genitalia, Gonadoblastoma, Ambiguous genitalia, female, Increased circu... |
ORPHA:1772 |
Nephronophthisis 14 |
|
Retinal degeneration |
OMIM:614844 |
Severe Early-Childhood-Onset Retinal Dystrophy |
|
Retinal pigment epithelial atrophy, Optic disc drusen, Abnormal macular morphology, Retinal degen... |
ORPHA:364055 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Hypoplasia of the uterus, Azoospermia, Bicornuate uterus |
OMIM:601076 |
Hsd10 Mitochondrial Disease |
|
Retinal degeneration, Optic atrophy, Abnormal mitochondrial morphology |
OMIM:300438 |
Mucolipidosis Iv |
|
Retinal degeneration, Hypergastrinemia, Optic atrophy |
OMIM:252650 |
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome |
|
Peripheral retinal atrophy, Retinal dystrophy, Absent foveal reflex |
OMIM:615147 |
Retinitis Pigmentosa 41 |
|
Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of... |
OMIM:612095 |
Oguchi Disease |
|
Macular degeneration, Rod-cone dystrophy, Congenital stationary night blindness, Mizuo phenomenon |
ORPHA:75382 |
Hypotrichosis With Juvenile Macular Degeneration |
|
Sparse scalp hair, Pili torti, Brittle hair, Macular degeneration, Fine hair, Abnormality of macu... |
ORPHA:1573 |
Testicular Germ Cell Tumor |
|
Azoospermia |
OMIM:273300 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Azoospermia, Hypogonadism |
OMIM:615234 |
Hypotaurinemic Retinal Degeneration And Cardiomyopathy |
|
Photoreceptor layer loss on macular OCT, Retinal thinning, Retinal pigment epithelial mottling, M... |
OMIM:145350 |
Sjogren-Larsson Syndrome |
|
Retinal pigment epithelial atrophy, Retinal thinning, Macular crystals, Macular degeneration, Mac... |
OMIM:270200 |
Ceroid Lipofuscinosis, Neuronal, 5 |
|
Retinal degeneration |
OMIM:256731 |
Retinitis Pigmentosa 58 |
|
Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of... |
OMIM:613617 |
Bardet-Biedl Syndrome 1 |
|
Rod-cone dystrophy, Hypogonadism, Hyperautofluorescent macular lesion, Decreased testicular size,... |
OMIM:209900 |
Maternal Uniparental Disomy Of Chromosome 2 |
|
Hypothyroidism, Decreased response to growth hormone stimulation test, Premature ovarian insuffic... |
ORPHA:96179 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Decreased fertility, Testicular atrophy |
OMIM:313200 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Synophrys, Retinal degeneration, Macular atrophy, Attenuation of retinal blood vessels, Geographi... |
OMIM:619260 |
Spinocerebellar Ataxia 7 |
|
Macular degeneration, Pigmentary retinopathy, Optic atrophy |
OMIM:164500 |
48,Xxxy Syndrome |
|
Hypogonadism, Decreased testicular size, Type II diabetes mellitus, Infertility, Hypoplasia of pe... |
ORPHA:96263 |
Satoyoshi Syndrome |
|
Abnormality of the ovary, Abnormality of the uterus, Hypoplasia of the ovary, Amenorrhea, Hypopla... |
ORPHA:3130 |
Retinitis Pigmentosa 56 |
|
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ... |
OMIM:613581 |
Vitreoretinal Degeneration, Snowflake Type |
|
Retinal detachment, Retinal dots, Optically empty vitreous, Snowflake vitreoretinal degeneration |
OMIM:193230 |
Retinitis Punctata Albescens |
|
Retinal atrophy, Retinal pigment epithelial mottling, Yellow/white lesions of the retina, Macular... |
ORPHA:52427 |
Functioning Gonadotropic Adenoma |
|
Impotence, Anterior hypopituitarism, Decreased female libido, Oligospermia, Increased circulating... |
ORPHA:91348 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Peripapillary atrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation... |
OMIM:618195 |
8P11.2 Deletion Syndrome |
|
Hypogonadism, Retinal dystrophy, Azoospermia, Hypoplasia of penis, Cryptorchidism, Hypogonadotrop... |
ORPHA:251066 |
Poretti-Boltshauser Syndrome |
|
Retinal atrophy, Retinal dystrophy, Retinal thinning |
OMIM:615960 |
Developmental And Epileptic Encephalopathy 28 |
|
Retinal degeneration, Optic atrophy |
OMIM:616211 |
Tetragametic Chimerism |
|
Abnormality of the scrotum, Ambiguous genitalia, Abnormal testis morphology, Bifid scrotum, Perin... |
ORPHA:199310 |
Late-Onset Retinal Degeneration |
|
Peripapillary atrophy, Macular degeneration, Choroidal neovascularization, Multifocal subretinal ... |
ORPHA:67042 |
46,Xy Sex Reversal 7 |
|
Abnormal epididymis morphology, Gonadoblastoma, Gonadal dysgenesis, male, Sex reversal, Hypoplasi... |
OMIM:233420 |
Retinitis Pigmentosa 45 |
|
Macular degeneration, Rod-cone dystrophy, Bone spicule pigmentation of the retina |
OMIM:613767 |
49,Xxxxy Syndrome |
|
Hypogonadism, Decreased testicular size, Type II diabetes mellitus, Infertility, Azoospermia, Hyp... |
ORPHA:96264 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Alopecia, Rod-cone dystrophy, Absent eyelashes, Retinal degeneration, Absent eyebrow, Cryptorchid... |
ORPHA:166035 |
Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Optic disc pallor, Rod-cone dystrophy, Reduced sperm motility, Macular atrophy |
OMIM:615434 |
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Alopecia, Hypothyroidism, Hypogonadism, Retinal atrophy, Type II diabetes mellitus, Infertility, ... |
ORPHA:412057 |
Cone-Rod Dystrophy 8 |
|
Retinal arteriolar constriction, Cone/cone-rod dystrophy, Macular degeneration, Abnormality of re... |
OMIM:605549 |
Sjögren-Larsson Syndrome |
|
Macular degeneration, Retinopathy, Abnormality of retinal pigmentation |
ORPHA:816 |
Retinitis Pigmentosa 23 |
|
Retinal pigment epithelial atrophy, Absent foveal reflex, Rod-cone dystrophy, Attenuation of reti... |
OMIM:300424 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Hypothyroidism, Hypogonadism, Adrenal insufficiency, Azoospermia, Abnormality of the hypothalamus... |
ORPHA:300298 |
Müllerian Aplasia And Hyperandrogenism |
|
Abnormal vagina morphology, Abnormality of the ovary, Hypoplasia of the uterus, Primary amenorrhea |
ORPHA:247768 |
Retinitis Pigmentosa 60 |
|
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ... |
OMIM:613983 |
Cone-Rod Dystrophy 10 |
|
Macular degeneration, Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of... |
OMIM:610283 |
Abetalipoproteinemia |
|
Retinal degeneration, Retinopathy |
OMIM:200100 |
Ceroid Lipofuscinosis, Neuronal, 10 |
|
Retinal atrophy, Rod-cone dystrophy |
OMIM:610127 |
Non-Specific Early-Onset Epileptic Encephalopathy |
|
Failure to thrive, Retinal degeneration, Optic atrophy |
ORPHA:442835 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Retinal degeneration, Optic disc pallor, Pigmentary retinopathy |
ORPHA:79264 |
Scheie Syndrome |
|
Retinal degeneration |
OMIM:607016 |
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type) |
|
Retinal degeneration |
OMIM:616896 |
Retinal Cone Dystrophy 3B |
|
Macular atrophy, Cone/cone-rod dystrophy |
OMIM:610356 |
Cone-Rod Dystrophy 2 |
|
Retinal pigment epithelial atrophy, Cone/cone-rod dystrophy, Bone spicule pigmentation of the ret... |
OMIM:120970 |
Acute Zonal Occult Outer Retinopathy |
|
Retinal pigment epithelial atrophy, Macular drusen, Rod-cone dystrophy, Abnormal choroid morpholo... |
ORPHA:284454 |
Alzheimer Disease 4 |
|
Cerebral amyloid angiopathy, Neurofibrillary tangles |
OMIM:606889 |
H Syndrome |
|
Alopecia, Abnormal eyebrow morphology, Hypogonadism, Decreased testicular size, Azoospermia, Hype... |
ORPHA:168569 |
Jalili Syndrome |
|
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Macular atrophy, Bone spicule pigme... |
OMIM:217080 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Retinal degeneration, Obesity |
OMIM:615630 |
Werner Syndrome |
|
Retinal degeneration, Alopecia of scalp, Diabetes mellitus, Hypogonadism |
OMIM:277700 |
Joubert Syndrome 6 |
|
Retinal degeneration, Bile duct proliferation, Chorioretinal coloboma |
OMIM:610688 |
Birdshot Chorioretinopathy |
|
Retinal pigment epithelial atrophy, Vitreous floaters, Abnormal chorioretinal morphology, Vitritis |
OMIM:605808 |
Autosomal Dominant Cerebellar Ataxia |
|
Retinal degeneration, Macular degeneration, Azoospermia, Pigmentary retinopathy |
ORPHA:99 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Retinopathy, Angioid streaks of the fundus, Retinal degeneration, Failure to thrive, Macular scar |
OMIM:239000 |
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
|
Retinal atrophy, Retinal dystrophy |
ORPHA:370022 |
Ring Chromosome 22 Syndrome |
|
Thick eyebrow, Azoospermia |
ORPHA:1446 |
Amyloidosis, Familial Visceral |
|
Generalized amyloid deposition |
OMIM:105200 |
Spastic Paraplegia 15, Autosomal Recessive |
|
Retinal degeneration, Macular degeneration |
OMIM:270700 |
Hsd10 Disease, Infantile Type |
|
Retinal degeneration, Rod-cone dystrophy, Optic atrophy |
ORPHA:391428 |
Aceruloplasminemia |
|
Retinal degeneration, Diabetes mellitus |
OMIM:604290 |
Ovarian Fibroma |
|
Abnormality of the ovary, Ovarian fibroma, Gonadal calcification |
ORPHA:314473 |
Cerebral Amyloid Angiopathy, Itm2B-Related, 2 |
|
Cerebral amyloid angiopathy, Neurofibrillary tangles |
OMIM:117300 |
Wolfram Syndrome 1 |
|
Hypothyroidism, Diabetes insipidus, Optic atrophy, Testicular atrophy, Diabetes mellitus, Pigment... |
OMIM:222300 |
Cancer-Associated Retinopathy |
|
Pancreatic adenocarcinoma, Retinal pigment epithelial atrophy, Foveal hyporeflective spaces on ma... |
ORPHA:71505 |
Bloom Syndrome |
|
Decreased fertility in females, Small for gestational age, Type II diabetes mellitus, Azoospermia... |
OMIM:210900 |
Refsum Disease, Classic |
|
Retinal degeneration, Rod-cone dystrophy |
OMIM:266500 |
Bloom Syndrome |
|
Retinopathy, Small for gestational age, Premature ovarian insufficiency, Azoospermia, Oligospermi... |
ORPHA:125 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Retinal pigment epithelial atrophy, Retinal atrophy, Epiretinal membrane, Photoreceptor layer los... |
OMIM:616959 |
Myotonic Dystrophy 1 |
|
Testicular atrophy, Frontal balding, Cholelithiasis, Hypogonadism |
OMIM:160900 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Testicular atrophy |
OMIM:601163 |
Cone-Rod Dystrophy And Hearing Loss 1 |
|
Retinal atrophy, Macular degeneration |
OMIM:617236 |
Leber Congenital Amaurosis 15 |
|
Peripapillary atrophy, Dull foveal reflex, Retinal degeneration, Attenuation of retinal blood ves... |
OMIM:613843 |
Aceruloplasminemia |
|
Retinal degeneration, Macular degeneration, Abnormality of retinal pigmentation, Diabetes mellitu... |
ORPHA:48818 |
Bone Marrow Failure Syndrome 5 |
|
Testicular atrophy, Nail dystrophy, Hypogonadism |
OMIM:618165 |
Hypobetalipoproteinemia, Familial, 1 |
|
Retinal degeneration, Rod-cone dystrophy |
OMIM:615558 |
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
|
Oligospermia, Cryptorchidism |
OMIM:314300 |
Axial Spondylometaphyseal Dysplasia |
|
Retinal dystrophy, Rod-cone dystrophy, Peripheral retinal degeneration, Optic atrophy |
ORPHA:168549 |
Atypical Werner Syndrome |
|
Decreased body weight, Abnormal testis morphology, Premature graying of hair, White forelock, Neo... |
ORPHA:79474 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Sparse eyebrow, High anterior hairline, Rod-cone dystrophy, Hypoautofluorescent retinal lesion, R... |
OMIM:250410 |
Pituitary Dermoid And Epidermoid Cysts |
|
Enlarged pituitary gland, Increased circulating prolactin concentration, Hypogonadism, Hyperpitui... |
ORPHA:91351 |
Aarskog-Scott Syndrome |
|
Shawl scrotum, Bilateral cryptorchidism, Widow's peak, Decreased serum testosterone concentration... |
OMIM:305400 |
Cerebral Amyloid Angiopathy, Itm2B-Related, 1 |
|
Cerebral amyloid angiopathy |
OMIM:176500 |
Inherited Creutzfeldt-Jakob Disease |
|
Amyloidosis of peripheral nerves |
ORPHA:282166 |
Palmoplantar Carcinoma, Multiple Self-Healing |
|
Amyloidosis, Cutaneous macular amyloidosis |
OMIM:615225 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Hypothyroidism, Weight loss, Infertility, Erectile dysfunction, Testicular atrophy, Diabetes mell... |
ORPHA:465508 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Testicular atrophy, Nail dystrophy |
OMIM:613987 |
Trichothiodystrophy |
|
Sparse scalp hair, Tiger tail banding, Brittle hair, Retinal degeneration, Macular degeneration, ... |
ORPHA:33364 |
Bietti Crystalline Corneoretinal Dystrophy |
|
Retinal degeneration, Chorioretinal atrophy |
OMIM:210370 |
Cerebellar, Ocular, Craniofacial, And Genital Syndrome |
|
Absent scrotum, Synophrys, Retinal degeneration, Long eyelashes, Hirsutism, Laterally extended ey... |
OMIM:618479 |
Retinitis Pigmentosa 37 |
|
Cystoid macular degeneration, Rod-cone dystrophy, Pigmentary retinopathy |
OMIM:611131 |
Abeta Amyloidosis, Dutch Type |
|
Cerebral amyloid angiopathy |
ORPHA:100006 |
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome |
|
Rod-cone dystrophy, Patchy atrophy of the retinal pigment epithelium |
ORPHA:436245 |
Generalized Glucocorticoid Resistance Syndrome |
|
Ambiguous genitalia, Precocious puberty, Decreased circulating aldosterone level, Increased circu... |
ORPHA:786 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Optic atrophy, Retinal atrophy, Optic nerve hypoplasia, Retinal dysplasia, Hypoplastic male exter... |
OMIM:236670 |
Senior-Loken Syndrome 8 |
|
Pancreatic cysts, Retinal dystrophy, Rod-cone dystrophy, Macular atrophy |
OMIM:616307 |
Aa Amyloidosis |
|
Renal amyloidosis, Amyloidosis |
ORPHA:85445 |
Fanconi Anemia |
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Abnormal preputium morphology, Weight loss, Abnormal testis morphology, Hypogonadism, Bicornuate ... |
ORPHA:84 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
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Retinal degeneration |
OMIM:615249 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
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Pancreatic hypoplasia, Decreased response to growth hormone stimulation test, Azoospermia, Type I... |
OMIM:602782 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
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Retinal degeneration |
ORPHA:168491 |
Mucolipidosis Iii Alpha/Beta |
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Retinal degeneration, Retinopathy |
OMIM:252600 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
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Retinal detachment, Retinal dystrophy, Macular atrophy, Chorioretinal coloboma |
OMIM:212550 |
Cockayne Syndrome |
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Retinal hemorrhage, Dry hair, Retinal arteriolar constriction, Optic atrophy, Retinal atrophy, Re... |
ORPHA:191 |
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract |
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Retinal atrophy |
OMIM:616722 |
Adult-Onset Autosomal Recessive Cerebellar Ataxia |
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Macular degeneration |
ORPHA:284289 |
Cockayne Syndrome A |
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Irregular menstruation, Dry hair, Pigmentary retinopathy, Hypogonadism, Optic atrophy, Retinal at... |
OMIM:216400 |
Hypoplasminogenemia |
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Abnormal fallopian tube morphology, Abnormality of the ovary, Cervicitis |
ORPHA:722 |
Pantothenate Kinase-Associated Neurodegeneration |
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Rod-cone dystrophy, Optic atrophy, Retinal degeneration, Retinal flecks, Bull's eye maculopathy, ... |
ORPHA:157850 |
Pseudoxanthoma Elasticum |
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Retinal hemorrhage, Retinal peau d'orange, Optic disc drusen, Angioid streaks of the fundus, Macu... |
OMIM:264800 |
Mannosidosis, Alpha B, Lysosomal |
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Retinal degeneration, Thick eyebrow, Hypertrichosis, Low anterior hairline |
OMIM:248500 |
Burkitt Lymphoma |
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Abnormality of the ovary |
ORPHA:543 |
Cone-Rod Dystrophy 6 |
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Cone/cone-rod dystrophy, Macular atrophy, Bone spicule pigmentation of the retina, Attenuation of... |
OMIM:601777 |
Idiopathic Trachyonychia |
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Amyloidosis |
ORPHA:79153 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
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Retinal degeneration |
ORPHA:542306 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
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Optic atrophy, Retinal degeneration, Failure to thrive, Macular coloboma, Pigmentary retinopathy,... |
ORPHA:79282 |
Autosomal Recessive Spastic Paraplegia Type 11 |
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Retinal degeneration, Obesity, Overweight |
ORPHA:2822 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
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Retinal thinning, Cone/cone-rod dystrophy, Retinal atrophy, Macular atrophy, Abnormality of retin... |
ORPHA:85167 |
Papillorenal Syndrome |
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Morning glory anomaly, Macular degeneration, Chorioretinal atrophy, Macular hyperpigmentation, Re... |
OMIM:120330 |
Say-Barber-Miller Syndrome |
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Sparse eyebrow, Rod-cone dystrophy, Hypogonadism, Optic atrophy, Macular degeneration, Hirsutism,... |
ORPHA:3132 |
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type) |
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Macular degeneration |
OMIM:619780 |
Oculocerebrorenal Syndrome Of Lowe |
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Diabetes insipidus, Hyperaldosteronism, Sparse scalp hair, Abnormal calcium-phosphate regulating ... |
ORPHA:534 |
Pyruvate Dehydrogenase E2 Deficiency |
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Retinal degeneration |
ORPHA:79244 |
Cerebral Amyloid Angiopathy, App-Related |
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Cerebral amyloid angiopathy |
OMIM:605714 |
Hurler Syndrome |
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Retinal degeneration, Hirsutism |
OMIM:607014 |
Multiple Sulfatase Deficiency |
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Retinal degeneration |
OMIM:272200 |
Mucopolysaccharidosis Type 3 |
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Rod-cone dystrophy, Optic atrophy, Synophrys, Retinal degeneration, Hirsutism, Coarse hair, Gener... |
ORPHA:581 |
Aapoaiv Amyloidosis |
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Cardiac amyloidosis, Renal amyloidosis, Renal interstitial amyloid deposits, Cutaneous amyloidosis |
ORPHA:439232 |
Amyloidosis, Hereditary, Transthyretin-Related |
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Amyloidosis |
OMIM:105210 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
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Secondary amenorrhea, Premature ovarian insufficiency, Testicular atrophy, Hypergonadotropic hypo... |
OMIM:157640 |
Kniest Dysplasia |
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Lattice retinal degeneration, Rhegmatogenous retinal detachment, Vitreoretinopathy, Degenerative ... |
ORPHA:485 |
Periodic Fever, Familial, Autosomal Dominant |
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Hepatic amyloidosis, AA amyloidosis |
OMIM:142680 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
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Pancreatic cysts, Retinal degeneration, Pancreatic fibrosis, Bile duct proliferation |
OMIM:208500 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
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Cachexia, Azoospermia, Delayed puberty, Papilledema, Cholelithiasis |
ORPHA:2072 |
Xq21 Microdeletion Syndrome |
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Decreased response to growth hormone stimulation test, Optic atrophy, Choroideremia, Anterior hyp... |
ORPHA:1435 |
Nephronophthisis 11 |
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Retinal degeneration |
OMIM:613550 |
Cockayne Syndrome Type 3 |
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Dry hair, Retinal hemorrhage, Premature graying of hair, Retinal atrophy, Retinal degeneration, R... |
ORPHA:90324 |
Pseudoxanthoma Elasticum, Forme Fruste |
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Retinal hemorrhage, Macular degeneration, Angioid streaks of the fundus |
OMIM:177850 |
Spinocerebellar Ataxia Type 7 |
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Failure to thrive, Macular degeneration, Abnormal fundus morphology, Cone/cone-rod dystrophy |
ORPHA:94147 |
Bohring-Opitz Syndrome |
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Optic atrophy, Retinal atrophy, Synophrys, Annular pancreas, Severe failure to thrive, Cholelithi... |
ORPHA:97297 |
Knobloch Syndrome |
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Macular degeneration, Vitreoretinopathy, Retinal detachment, Abnormal hair morphology, Abnormal v... |
ORPHA:1571 |
Farber Disease |
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Failure to thrive, Macular degeneration, Cherry red spot of the macula |
ORPHA:333 |
Mucopolysaccharidosis Type 2 |
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Retinopathy, Abnormal foveal morphology, Optic atrophy, Retinal degeneration, Abnormality of reti... |
ORPHA:580 |
Osteopetrosis With Renal Tubular Acidosis |
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Abnormal retinal morphology, Optic atrophy, Retinal atrophy, Secondary hyperparathyroidism, Failu... |
ORPHA:2785 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
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Hypoplasia of the retina, Optic atrophy, Retinal atrophy, Retinal degeneration, Retinal dysplasia |
OMIM:253280 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
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Pancreatic cysts, Sparse scalp hair, Rod-cone dystrophy, Frontal upsweep of hair, Fair hair, Macu... |
OMIM:266920 |
Alport Syndrome |
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Retinal flecks, Macular degeneration, Clitoral hypertrophy |
ORPHA:63 |
Lesch-Nyhan Syndrome |
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Testicular atrophy |
OMIM:300322 |
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
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Cutaneous amyloidosis |
OMIM:301220 |
Sporadic Adult-Onset Ataxia Of Unknown Etiology |
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Macular degeneration |
ORPHA:247234 |
Neurodegeneration With Brain Iron Accumulation 1 |
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Retinal degeneration, Pigmentary retinopathy, Optic atrophy |
OMIM:234200 |
X-Linked Intellectual Disability, Snyder Type |
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Sparse eyebrow, Synophrys, Testicular atrophy, Hypospadias, Abnormality of the Leydig cells, Cryp... |
ORPHA:3063 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
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Amyloidosis |
ORPHA:98849 |
Familial Mediterranean Fever |
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Renal amyloidosis, Amyloidosis |
OMIM:249100 |
Steinert Myotonic Dystrophy |
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Decreased fertility, Alopecia, Hyperinsulinemia, Decreased response to growth hormone stimulation... |
ORPHA:273 |
Alström Syndrome |
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Cone/cone-rod dystrophy, Oligospermia, Frontal balding, Hirsutism, Decreased circulating T4 conce... |
ORPHA:64 |
Q Fever |
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Amyloidosis |
ORPHA:781 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
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Gonadoblastoma, Secondary amenorrhea, Premature ovarian insufficiency, Abnormality of the ovary, ... |
ORPHA:99413 |
Turner Syndrome |
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Gonadoblastoma, Secondary amenorrhea, Premature ovarian insufficiency, Abnormality of the ovary, ... |
ORPHA:881 |
Mosaic Monosomy X |
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Gonadoblastoma, Secondary amenorrhea, Premature ovarian insufficiency, Abnormality of the ovary, ... |
ORPHA:99228 |
Monosomy X |
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Gonadoblastoma, Secondary amenorrhea, Premature ovarian insufficiency, Abnormality of the ovary, ... |
ORPHA:99226 |
Primary Sclerosing Cholangitis |
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Amyloidosis |
ORPHA:171 |