| Stargardt Disease 1 |
|
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy |
OMIM:248200 |
| Retinal Dysplasia, Primary |
|
Falciform retinal fold, Retinal dysplasia |
OMIM:312550 |
| Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole |
|
Retinal dystrophy, Drusen, Reticular pigmentary degeneration |
OMIM:267800 |
| Atrophia Maculosa Varioliformis Cutis, Familial |
|
Macular atrophy |
OMIM:601341 |
| Macular Degeneration, Age-Related, 11 |
|
Macular degeneration |
OMIM:611953 |
| Macular Degeneration, Age-Related, 4 |
|
Macular degeneration |
OMIM:610698 |
| Macular Degeneration, Age-Related, 7 |
|
Macular degeneration |
OMIM:610149 |
| Macular Degeneration, Age-Related, 2 |
|
Macular degeneration |
OMIM:153800 |
| Macular Degeneration, Age-Related, 6 |
|
Macular degeneration |
OMIM:613757 |
| Macular Degeneration, Age-Related, 15 |
|
Macular degeneration |
OMIM:615591 |
| Spermatogenic Failure 35 |
|
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Absent sperm f... |
OMIM:618341 |
| Spermatogenic Failure, X-Linked, 3 |
|
Short sperm flagella, Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm mot... |
OMIM:301059 |
| Partial Chromosome Y Deletion |
|
Male infertility, Abnormal spermatogenesis, Oligozoospermia, Decreased testicular size, Non-obstr... |
ORPHA:1646 |
| Spermatogenic Failure 40 |
|
Short sperm flagella, Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, A... |
OMIM:618664 |
| Spermatogenic Failure 80 |
|
Short sperm flagella, Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced progressi... |
OMIM:620222 |
| Spermatogenic Failure 76 |
|
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Irregularly shap... |
OMIM:620084 |
| Spermatogenic Failure 20 |
|
Short sperm flagella, Male infertility, Absent sperm flagella, Coiled sperm flagella |
OMIM:617593 |
| Spermatogenic Failure 65 |
|
Short sperm flagella, Male infertility, Oligozoospermia, Abnormal sperm mid-piece morphology, Red... |
OMIM:619712 |
| Spermatogenic Failure 84 |
|
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... |
OMIM:620409 |
| Spermatogenic Failure 25 |
|
Male infertility, Decreased testicular size, Cryptozoospermia, Non-obstructive azoospermia, Sperm... |
OMIM:617960 |
| Spermatogenic Failure 54 |
|
Short sperm flagella, Male infertility, Abnormal sperm axoneme morphology, Tapered sperm head, Ol... |
OMIM:619379 |
| Spermatogenic Failure 47 |
|
Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella |
OMIM:619102 |
| Spermatogenic Failure 56 |
|
Short sperm flagella, Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm mot... |
OMIM:619515 |
| Spermatogenic Failure 63 |
|
Decreased testicular size, Male infertility, Oligozoospermia, Reduced progressive sperm motility |
OMIM:619689 |
| Spermatogenic Failure 39 |
|
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Coiled sperm flagell... |
OMIM:618643 |
| Spermatogenic Failure 11 |
|
Male infertility, Reduced sperm motility, Oligozoospermia, Abnormal sperm morphology |
OMIM:615081 |
| Spermatogenic Failure 10 |
|
Male infertility, Reduced sperm motility, Oligozoospermia, Abnormal sperm morphology |
OMIM:614822 |
| Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
| Spermatogenic Failure 79 |
|
Male infertility, Reduced sperm motility, Oligozoospermia, Coiled sperm flagella |
OMIM:620196 |
| Spermatogenic Failure 1 |
|
Male infertility, Oligozoospermia, Cryptozoospermia |
OMIM:258150 |
| Spermatogenic Failure 58 |
|
Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Immo... |
OMIM:619585 |
| Spermatogenic Failure 41 |
|
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Immotile sperm |
OMIM:618670 |
| Male Infertility Due To Acephalic Spermatozoa |
|
Male infertility, Acephalic spermatozoa, Oligozoospermia, Abnormal sperm mid-piece morphology, Re... |
ORPHA:529970 |
| Spermatogenic Failure 51 |
|
Short sperm flagella, Absent sperm axoneme central pair complex, Microcephalic sperm head, Oligoz... |
OMIM:619177 |
| Spermatogenic Failure 72 |
|
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced progre... |
OMIM:619867 |
| Spermatogenic Failure 34 |
|
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ... |
OMIM:618153 |
| Spermatogenic Failure 48 |
|
Male infertility, Oligozoospermia, Spermatogenesis maturation arrest, Azoospermia |
OMIM:619108 |
| Spermatogenic Failure 33 |
|
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced sperm motility, Irregularl... |
OMIM:618152 |
| Spermatogenic Failure 37 |
|
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced sperm motility, Irregularl... |
OMIM:618429 |
| Spermatogenic Failure 18 |
|
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced sperm motility, Irregularl... |
OMIM:617576 |
| Spermatogenic Failure 46 |
|
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced sperm motility, Irregularl... |
OMIM:619095 |
| Spermatogenic Failure 27 |
|
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ... |
OMIM:617965 |
| Spermatogenic Failure 30 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Cryptozoospermia, Cryptorchidism |
OMIM:618110 |
| Spermatogenic Failure 43 |
|
Male infertility, Absent sperm axoneme central pair complex, Reduced sperm motility, Absent sperm... |
OMIM:618751 |
| Spermatogenic Failure 19 |
|
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... |
OMIM:617592 |
| Spermatogenic Failure 82 |
|
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced progressive sperm motility... |
OMIM:620353 |
| Spermatogenic Failure 49 |
|
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... |
OMIM:619144 |
| Spermatogenic Failure 45 |
|
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... |
OMIM:619094 |
| Macular Degeneration, Age-Related, 13 |
|
Macular degeneration, Macular scar, Drusen, Choroidal neovascularization |
OMIM:615439 |
| Spermatogenic Failure 78 |
|
Tapered sperm head, Male infertility, Microcephalic sperm head |
OMIM:620170 |
| Spermatogenic Failure, X-Linked, 5 |
|
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced sperm motility, Reduced pr... |
OMIM:301099 |
| Spermatogenic Failure 64 |
|
Abnormal sperm head morphology, Oligozoospermia, Male infertility, Reduced progressive sperm moti... |
OMIM:619696 |
| Retinal Degeneration And Epilepsy |
|
Retinal degeneration |
OMIM:267740 |
| Retinitis Pigmentosa 48 |
|
Macular degeneration, Rod-cone dystrophy |
OMIM:613827 |
| Doyne Honeycomb Retinal Dystrophy |
|
Retinal dystrophy, Reticular pigmentary degeneration |
OMIM:126600 |
| Spermatogenic Failure 22 |
|
Male infertility, Cryptozoospermia, Non-obstructive azoospermia |
OMIM:617706 |
| Spermatogenic Failure 7 |
|
Male infertility, Oligozoospermia, Immotile sperm, Reduced sperm motility |
OMIM:612997 |
| Spermatogenic Failure 57 |
|
Decreased testicular size, Male infertility, Non-obstructive azoospermia, Spermatogenesis maturat... |
OMIM:619528 |
| Spermatogenic Failure 42 |
|
Short sperm flagella, Male infertility, Microcephalic sperm head, Tapered sperm head, Reduced spe... |
OMIM:618745 |
| Spermatogenic Failure 86 |
|
Abnormal sperm head morphology, Male infertility, Acephalic spermatozoa, Acrosomal hypoplasia, Ru... |
OMIM:620499 |
| Spermatogenic Failure 70 |
|
Male infertility, Reduced sperm motility, Oligozoospermia, Azoospermia |
OMIM:619828 |
| Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Male infertility, Abnormal sperm morphology, Immotile sperm |
OMIM:608653 |
| Spermatogenic Failure 5 |
|
Macrozoospermia, Male infertility, Multiflagellar spermatozoa |
OMIM:243060 |
| Spermatogenic Failure 50 |
|
Decreased testicular size, Male infertility, Spermatogenesis maturation arrest, Azoospermia |
OMIM:619145 |
| Macular Dystrophy, Patterned, 3 |
|
Macular atrophy, Rod-cone dystrophy, Choroidal neovascularization |
OMIM:617111 |
| Spermatogenic Failure 83 |
|
Altered location of the longitudinal column in the fibrous sheath, Male infertility, Reduced sper... |
OMIM:620354 |
| Spermatogenic Failure 31 |
|
Acephalic spermatozoa, Male infertility |
OMIM:618112 |
| Spermatogenic Failure 53 |
|
Tapered sperm head, Male infertility |
OMIM:619258 |
| Spermatogenic Failure 87 |
|
Male infertility, Ruffled acrosome |
OMIM:620500 |
| Spermatogenic Failure 26 |
|
Acephalic spermatozoa, Male infertility |
OMIM:617961 |
| Spermatogenic Failure 32 |
|
Male infertility, Sertoli cell-only phenotype, Non-obstructive azoospermia |
OMIM:618115 |
| Spermatogenic Failure 71 |
|
Male infertility, Sertoli cell-only phenotype, Non-obstructive azoospermia |
OMIM:619831 |
| Macular Degeneration, Early-Onset |
|
Macular degeneration, Choroidal neovascularization |
OMIM:616118 |
| Retinitis Pigmentosa 36 |
|
Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse... |
OMIM:610599 |
| Spermatogenic Failure 62 |
|
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia |
OMIM:619673 |
| Spermatogenic Failure 61 |
|
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia |
OMIM:619672 |
| Spermatogenic Failure 88 |
|
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia |
OMIM:620547 |
| Spermatogenic Failure 73 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619878 |
| Spermatogenic Failure 59 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619645 |
| Spermatogenic Failure 60 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619646 |
| Spermatogenic Failure 74 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619937 |
| Spermatogenic Failure 8 |
|
Oligozoospermia, Cryptozoospermia, Azoospermia |
OMIM:613957 |
| Stargardt Disease 4 |
|
Macular degeneration, Retinal flecks |
OMIM:603786 |
| Spermatogenic Failure 21 |
|
Acephalic spermatozoa, Male infertility, Reduced sperm motility |
OMIM:617644 |
| Spermatogenic Failure 16 |
|
Acephalic spermatozoa, Male infertility, Reduced sperm motility |
OMIM:617187 |
| Night Blindness, Congenital Stationary, Type 1D |
|
Congenital stationary night blindness, Attenuation of retinal blood vessels, Macular atrophy, Pig... |
OMIM:613830 |
| Isochromosomy Yp |
|
Male infertility, Azoospermia, Decreased testicular size, Ambiguous genitalia, Primary gonadal in... |
ORPHA:98797 |
| Deafness-Infertility Syndrome |
|
Abnormal sperm head morphology, Male infertility, Abnormal spermatogenesis, Reduced sperm motilit... |
OMIM:611102 |
| Macular Degeneration, Atrophic, X-Linked |
|
Macular degeneration |
OMIM:300834 |
| Spermatogenic Failure 81 |
|
Male infertility, Oligozoospermia, Acrosomal hypoplasia, Reduced progressive sperm motility |
OMIM:620277 |
| Cone-Rod Dystrophy 7 |
|
Cone/cone-rod dystrophy, Retinal flecks, Macular atrophy, Bull's eye maculopathy |
OMIM:603649 |
| Spermatogenic Failure 24 |
|
Short sperm flagella, Microcephalic sperm head, Tapered sperm head, Reduced sperm motility, Coile... |
OMIM:617959 |
| Exudative Vitreoretinopathy 7 |
|
Retinal detachment, Exudative vitreoretinopathy, Retinal degeneration, Retinal hole, Retinal fold |
OMIM:617572 |
| Spermatogenic Failure 38 |
|
Abnormal sperm head morphology, Male infertility, Abnormal axonemal organization of respiratory m... |
OMIM:618433 |
| Spermatogenic Failure, X-Linked, 6 |
|
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Abnormal male ... |
OMIM:301101 |
| Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
| Spermatogenic Failure 4 |
|
Male infertility, Azoospermia |
OMIM:270960 |
| Spermatogenic Failure, Y-Linked, 2 |
|
Male infertility, Azoospermia |
OMIM:415000 |
| Spermatogenic Failure 23 |
|
Male infertility, Azoospermia |
OMIM:617707 |
| Spermatogenic Failure 29 |
|
Male infertility, Immotile sperm, Non-obstructive azoospermia |
OMIM:618091 |
| Spermatogenic Failure 12 |
|
Infertility, Abnormal male germ cell morphology, Azoospermia |
OMIM:615413 |
| Stargardt Disease 3 |
|
Macular dystrophy, Macular atrophy, Macular flecks |
OMIM:600110 |
| Retinitis Pigmentosa 31 |
|
Attenuation of retinal blood vessels, Rod-cone dystrophy, Retinal pigment epithelial atrophy |
OMIM:609923 |
| Retinoschisis 1, X-Linked, Juvenile |
|
Retinal detachment, Retinal atrophy, Retinoschisis, Peripheral cystoid retinal degeneration, Reti... |
OMIM:312700 |
| Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Abnormal sperm tail morphology, Abnormal spermatogenesis, Decreased testicular size, Globozoosper... |
ORPHA:399808 |
| Isochromosomy Yq |
|
Male infertility, Azoospermia, Decreased testicular size, Varicocele, Ambiguous genitalia, Primar... |
ORPHA:98798 |
| Senior-Loken Syndrome 1 |
|
Polyuria, Nephronophthisis, Elevated circulating creatinine concentration, Retinal dystrophy, Tub... |
OMIM:266900 |
| Spermatogenic Failure, X-Linked, 7 |
|
Male infertility, Multiflagellar spermatozoa, Reduced sperm motility, Globozoospermia, Excess res... |
OMIM:301106 |
| Spermatogenic Failure 44 |
|
Male infertility, Abnormal circulating testosterone concentration, Acephalic spermatozoa, Decreas... |
OMIM:619044 |
| Macular Dystrophy, Retinal, 1, North Carolina Type |
|
Peripheral retinal atrophy, Abnormality of macular pigmentation, Macular dystrophy, Drusen |
OMIM:136550 |
| Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Spermatogenesis maturation arrest, Testicular atrophy, Azoospermia |
OMIM:309120 |
| Late-Onset Retinal Degeneration |
|
Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ... |
OMIM:605670 |
| Macular Dystrophy, Vitelliform, 2 |
|
Cystoid macular degeneration, Macular dystrophy, Subretinal fluid |
OMIM:153700 |
| Macular Dystrophy, Retinal, 2 |
|
Granular macular appearance, Macular dystrophy, Perifoveal ring of hyperautofluorescence, Retinal... |
OMIM:608051 |
| Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
| Leber Congenital Amaurosis 19 |
|
Retinal degeneration, Attenuation of retinal blood vessels, Optic disc pallor |
OMIM:618513 |
| Spermatogenic Failure 85 |
|
Male infertility, Acephalic spermatozoa, Globozoospermia, Reduced progressive sperm motility, Coi... |
OMIM:620490 |
| Senior-Loken Syndrome 7 |
|
Retinal degeneration |
OMIM:613615 |
| Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
| Oculorenocerebellar Syndrome |
|
Retinal degeneration, Nephropathy, Glomerular sclerosis |
OMIM:257970 |
| Choroidal Dystrophy, Central Areolar, 1 |
|
Chorioretinal atrophy, Choriocapillaris atrophy, Pigmentary retinopathy |
OMIM:215500 |
| Spermatogenic Failure 6 |
|
Decreased acrosin in sperm head, Globozoospermia, Male infertility |
OMIM:102530 |
| Spermatogenic Failure 77 |
|
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te... |
OMIM:620103 |
| Retinopathy, Pericentral Pigmentary, Dominant |
|
Bone spicule pigmentation of the retina, Retinal dystrophy, Retinal atrophy, Retinopathy, Attenua... |
OMIM:180210 |
| Hyperleucine-Isoleucinemia |
|
Retinal degeneration |
OMIM:238340 |
| Endometriosis, Susceptibility To, 1 |
|
Dysmenorrhea, Decreased fertility, Endometriosis |
OMIM:131200 |
| Spermatogenic Failure 2 |
|
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating fo... |
OMIM:108420 |
| Macular Degeneration, Age-Related, 1 |
|
Geographic atrophy, Choroidal neovascularization, Macular degeneration, Foveal hypopigmentation, ... |
OMIM:603075 |
| Cone-Rod Dystrophy 22 |
|
Hyperautofluorescent macular lesion, Bull's eye maculopathy, Attenuation of retinal blood vessels... |
OMIM:619531 |
| Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Obstructive azoospermia, Azoospermia, Abnormal spermatogenesis, Decreased testicular size, Non-ob... |
ORPHA:399805 |
| Bardet-Biedl Syndrome 16 |
|
External genital hypoplasia, Renal insufficiency, Renal cyst, Renal agenesis, Retinal degeneratio... |
OMIM:615993 |
| Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Macular dystrophy, Abnormal fundus autofluorescence imaging, Choroidal neovascularization, Chorio... |
ORPHA:59181 |
| Retinal Cone Dystrophy 1 |
|
Cone/cone-rod dystrophy, Retinal degeneration, Bull's eye maculopathy |
OMIM:180020 |
| Uterine Anomalies |
|
Bicornuate uterus, Abnormality of the uterus |
OMIM:192000 |
| Cone-Rod Dystrophy 11 |
|
Cone/cone-rod dystrophy, Macular degeneration, Macular atrophy, Bull's eye maculopathy |
OMIM:610381 |
| Ciliary Dyskinesia, Primary, 50 |
|
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced sperm motility, Reduced pr... |
OMIM:620356 |
| Nephronophthisis 11 |
|
Polyuria, Nephronophthisis, Tubular basement membrane disintegration, Retinal degeneration, Renal... |
OMIM:613550 |
| Retinitis Pigmentosa 33 |
|
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep... |
OMIM:610359 |
| Spermatogenic Failure 3 |
|
Male infertility, Reduced sperm motility |
OMIM:606766 |
| Spermatogenic Failure, Y-Linked, 1 |
|
Male infertility, Reduced sperm motility |
OMIM:400042 |
| Spermatogenic Failure 55 |
|
Male infertility, Reduced sperm motility |
OMIM:619380 |
| Bothnia Retinal Dystrophy |
|
Macular degeneration, Retinal dystrophy |
OMIM:607475 |
| Retinitis Pigmentosa 70 |
|
Macular degeneration, Attenuation of retinal blood vessels, Retinal degeneration, Rod-cone dystro... |
OMIM:615922 |
| Spermatogenic Failure 75 |
|
Male infertility, Spermatocyte maturation arrest, Elevated circulating follicle stimulating hormo... |
OMIM:619949 |
| Deleted in azoospermia |
|
Azoospermia |
OMIM:400003 |
| Young Syndrome |
|
Obstructive azoospermia, Decreased fertility |
ORPHA:3471 |
| Spermatogenic Failure 9 |
|
Male infertility, Globozoospermia |
OMIM:613958 |
| Spermatogenic Failure 67 |
|
Male infertility, Globozoospermia |
OMIM:619803 |
| Spermatogenic Failure 68 |
|
Male infertility, Globozoospermia |
OMIM:619805 |
| Spermatogenic Failure 69 |
|
Male infertility, Globozoospermia |
OMIM:619826 |
| Spermatogenic Failure 66 |
|
Male infertility, Globozoospermia |
OMIM:619799 |
| Bardet-Biedl Syndrome 4 |
|
Abnormality of the kidney, External genital hypoplasia, Renal cyst, Hypogonadism, Retinal degener... |
OMIM:615982 |
| Hydatidiform Mole |
|
Menometrorrhagia, Hyperthyroidism, Enlarged uterus |
ORPHA:99927 |
| Ciliary Dyskinesia, Primary, 51 |
|
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... |
OMIM:620438 |
| Retinitis Pigmentosa 32 |
|
Bone spicule pigmentation of the retina, Photoreceptor layer loss on macular OCT, Pigmentary reti... |
OMIM:609913 |
| Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Male infertility, Decreased cirrculating antimullerian hormone circulation, Bilateral cryptorchidism |
OMIM:261550 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal salt wasting, Elevated circulating creatinine concentration, Decreased glomerular filtratio... |
OMIM:174000 |
| Retinitis Pigmentosa 81 |
|
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Optic disc pallor,... |
OMIM:617871 |
| Nephrotic Syndrome, Type 24 |
|
Steroid-resistant nephrotic syndrome, Renal cortical hyperechogenicity, Focal segmental glomerulo... |
OMIM:619263 |
| Familial Peripheral Male-Limited Precocious Puberty |
|
Male infertility, Long penis, Oligozoospermia, Precocious puberty, Macroorchidism |
ORPHA:3000 |
| Congenital Bilateral Absence Of Vas Deferens |
|
Absent vas deferens, Male infertility, Oligozoospermia, Obstructive azoospermia |
ORPHA:48 |
| Liberfarb Syndrome |
|
Retinal degeneration, Bone spicule pigmentation of the retina, Retinal pigment epithelial mottlin... |
OMIM:618889 |
| Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Retinal degeneration |
OMIM:251700 |
| Bardet-Biedl Syndrome 10 |
|
Retinal dystrophy, Renal insufficiency, Renal cyst, Hypogonadism, Rod-cone dystrophy |
OMIM:615987 |
| Optic Atrophy 6 |
|
Optic atrophy, Retinal degeneration |
OMIM:258500 |
| Medullary cystic kidney disease 2 |
|
Hyperuricemia, Enuresis, Renal tubular atrophy, Multiple renal cysts, Renal corticomedullary cyst... |
OMIM:603860 |
| Peripheral Cone Dystrophy |
|
Optic atrophy, Cone/cone-rod dystrophy, Peripheral retinal degeneration, Optic disc pallor |
OMIM:609021 |
| Retinitis Pigmentosa 68 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal atrophy |
OMIM:615725 |
| Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
Male hypogonadism, Azoospermia |
OMIM:241000 |
| Spermatogenic Failure 15 |
|
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating fo... |
OMIM:616950 |
| Ceroid Lipofuscinosis, Neuronal, 6A |
|
Retinal degeneration |
OMIM:601780 |
| Azoospermia, Obstructive, With Nephrolithiasis |
|
Obstructive azoospermia, Male infertility, Spermatocele |
OMIM:301060 |
| Best Vitelliform Macular Dystrophy |
|
Cystoid macular degeneration, Choroideremia |
ORPHA:1243 |
| Spinocerebellar Ataxia Type 32 |
|
Male infertility, Testicular atrophy, Azoospermia |
ORPHA:276183 |
| Morm Syndrome |
|
Abnormality of the kidney, Retinal atrophy, Micropenis, Retinal dystrophy |
ORPHA:75858 |
| Bestrophinopathy, Autosomal Recessive |
|
Retinal flecks, Retinal pigment epithelial atrophy |
OMIM:611809 |
| Nephrotic Syndrome, Type 23 |
|
Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Podocyte foot process effa... |
OMIM:619201 |
| Retinitis Pigmentosa 38 |
|
Rod-cone dystrophy, Peripheral retinal atrophy, Macular atrophy, Optic disc pallor |
OMIM:613862 |
| Nephronophthisis 3 |
|
Polyuria, Enlarged kidney, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Enuresis, Re... |
OMIM:604387 |
| Nephrotic Syndrome, Type 9 |
|
Glomerular sclerosis, Focal segmental glomerulosclerosis, Proteinuria, Hypoalbuminemia, Steroid-r... |
OMIM:615573 |
| Retinitis Pigmentosa 11 |
|
Bone spicule pigmentation of the retina, Macular degeneration, Perifoveal ring of hyperautofluore... |
OMIM:600138 |
| Nephronophthisis 1 |
|
Polyuria, Nephronophthisis, Hyposthenuria, Tubulointerstitial fibrosis, Tubular basement membrane... |
OMIM:256100 |
| Nephrotic Syndrome, Type 26 |
|
Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney disease, Focal s... |
OMIM:620049 |
| Retinitis Pigmentosa 13 |
|
Bone spicule pigmentation of the retina, Asteroid hyalosis, Cystoid macular edema, Optic disc dru... |
OMIM:600059 |
| Spinocerebellar Ataxia 32 |
|
Infertility, Testicular atrophy, Azoospermia |
OMIM:613909 |
| Wagner Vitreoretinopathy |
|
Optic atrophy, Peripheral tractional retinal detachment, Chorioretinal atrophy, Vitreoretinopathy... |
OMIM:143200 |
| C3 Glomerulopathy |
|
Acute kidney injury, Elevated circulating creatinine concentration, Drusen, Hematuria, Yellow/whi... |
ORPHA:329918 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Delayed puberty, Azoospermia, Decreased female libido, Oligozoospermia, Testicular atrophy, Delay... |
ORPHA:52901 |
| Senior-Loken Syndrome 5 |
|
Stage 5 chronic kidney disease, Nephronophthisis, Rod-cone dystrophy |
OMIM:609254 |
| Nephronophthisis 4 |
|
Polyuria, Nephronophthisis, Tubulointerstitial fibrosis, Renal tubular atrophy, Stage 5 chronic k... |
OMIM:606966 |
| Nephronophthisis 14 |
|
Polycystic kidney dysplasia, Retinal degeneration, Nephronophthisis |
OMIM:614844 |
| Cone-Rod Dystrophy 5 |
|
Cone/cone-rod dystrophy, Macular degeneration, Retinal pigment epithelial mottling |
OMIM:600977 |
| Central Areolar Choroidal Dystrophy |
|
Full-thickness macular hole, Drusen, Foveal photoreceptor outer segment loss on macular OCT, Abse... |
ORPHA:75377 |
| Ovarian Dysgenesis 6 |
|
Absence of pubertal development, Primary amenorrhea, Hypoplasia of the uterus, Hypergonadotropic ... |
OMIM:618078 |
| Joubert Syndrome 5 |
|
Nephronophthisis, Renal cortical cysts, Impaired renal concentrating ability, Retinal coloboma, R... |
OMIM:610188 |
| Leber Congenital Amaurosis With Early-Onset Deafness |
|
Retinal degeneration, Retinal pigment epithelial mottling, Peripapillary atrophy |
OMIM:617879 |
| Focal Segmental Glomerulosclerosis 6 |
|
Hematuria, Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal tubular atrophy, Protein... |
OMIM:614131 |
| Focal Segmental Glomerulosclerosis 7 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal hypoplasia, Proteinuria, Stage 5 ch... |
OMIM:616002 |
| Bothnia Retinal Dystrophy |
|
Increased OCT-measured foveal thickness, Macular degeneration, Pigmentary retinopathy, Abnormal f... |
ORPHA:85128 |
| Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Low-molecular-weight proteinuria, Glomerular sclerosis, Hypercalciuria, Tubulointerstitial fibros... |
OMIM:310468 |
| Nephronophthisis 15 |
|
Retinal degeneration, Nephronophthisis |
OMIM:614845 |
| Familial Drusen |
|
Granular macular appearance, Macular dystrophy, Peripapillary chorioretinal atrophy, Choroidal ne... |
ORPHA:75376 |
| Exudative Vitreoretinopathy 3 |
|
Retinal exudate, Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold |
OMIM:605750 |
| Nephrotic Syndrome, Type 13 |
|
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... |
OMIM:616893 |
| Nephrotic Syndrome, Type 18 |
|
Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria, Focal segmenta... |
OMIM:618177 |
| Nephrotic Syndrome, Type 19 |
|
Stage 3 chronic kidney disease, Steroid-resistant nephrotic syndrome, Proteinuria, Focal segmenta... |
OMIM:618178 |
| Nephrotic Syndrome, Type 20 |
|
Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria, Focal segmenta... |
OMIM:301028 |
| Focal Segmental Glomerulosclerosis 8 |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis |
OMIM:616032 |
| Nephrotic Syndrome, Type 17 |
|
Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Steroid-resistant nephrot... |
OMIM:618176 |
| Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy |
|
Nephropathy, Focal segmental glomerulosclerosis, IgA deposition in the glomerulus |
OMIM:182690 |
| Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Hypoalbumine... |
OMIM:600995 |
| Focal Segmental Glomerulosclerosis 2 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Chronic kidney disease, Stag... |
OMIM:603965 |
| Hypogonadism, Male |
|
Testicular atrophy, Male hypogonadism, Micropenis, Hypospadias |
OMIM:241100 |
| Usher Syndrome, Type Iv |
|
Retinal degeneration, Bone spicule pigmentation of the retina, Retinal atrophy, Hyperautofluoresc... |
OMIM:618144 |
| Focal Segmental Glomerulosclerosis 10 |
|
Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chron... |
OMIM:256020 |
| Spermatogenic Failure 28 |
|
Male infertility, Decreased testicular size, Elevated circulating follicle stimulating hormone le... |
OMIM:618086 |
| Testicular Regression Syndrome |
|
Abnormal male internal genitalia morphology, Aplasia/Hypoplasia of the testes, Hypoplasia of peni... |
ORPHA:983 |
| Hyperuricemic Nephropathy, Familial Juvenile, 3 |
|
Abnormal renal insterstitial morphology, Impaired renal concentrating ability, Renal insufficienc... |
OMIM:614227 |
| Nephronophthisis 9 |
|
Polyuria, Nephronophthisis, Renal cortical microcysts, Retinal degeneration, Stage 5 chronic kidn... |
OMIM:613824 |
| Retinitis Pigmentosa 90 |
|
Bone spicule pigmentation of the retina, Cystoid macular edema, Attenuation of retinal blood vess... |
OMIM:619007 |
| Retinitis Pigmentosa 88 |
|
Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular edema, Attenuation... |
OMIM:618826 |
| Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Hypogonadism, Neonatal hyperbilirubinemia, Retinal degeneration, Cryptorchidism, Micropenis, Pigm... |
ORPHA:3363 |
| Cone Dystrophy 3 |
|
Cone/cone-rod dystrophy, Macular atrophy |
OMIM:602093 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Hyperuricemia, Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Renal hypoplasia,... |
OMIM:613092 |
| Oliver-Mcfarlane Syndrome |
|
Hypoplasia of penis, Retinal degeneration, Cryptorchidism, Hypogonadotropic hypogonadism, Pigment... |
OMIM:275400 |
| Focal Segmental Glomerulosclerosis 9 |
|
Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis |
OMIM:616220 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1H |
|
Macular degeneration |
OMIM:619764 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Renal salt wasting, Polyuria, Decreased glomerular filtration rate, Hyperchloriduria, Hypokalemia... |
OMIM:602522 |
| Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Low-molecular-weight proteinuria, Hypercalciuria, Hyposthenuria, Proximal tubulopathy, Beta 2-mic... |
OMIM:308990 |
| Retinitis Pigmentosa 4 |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Attenuation of retinal blood vessels, R... |
OMIM:613731 |
| Ovarian Dysgenesis 2 |
|
Delayed puberty, Premature ovarian insufficiency, Secondary amenorrhea, Hypergonadotropic hypogon... |
OMIM:300510 |
| Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Cystoid macular degeneration, Retinal degeneration, Macular atrophy |
OMIM:267760 |
| Senior-Loken Syndrome 8 |
|
Nephronophthisis, Retinal dystrophy, Pancreatic cysts, Glomerular subepithelial immune-complex de... |
OMIM:616307 |
| Premature Ovarian Failure 3 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the uterus |
OMIM:608996 |
| Senior-Loken Syndrome 3 |
|
Polyuria, Nephronophthisis, Enuresis, Stage 5 chronic kidney disease, Renal corticomedullary cysts |
OMIM:606995 |
| X-Linked Retinal Dysplasia |
|
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia |
ORPHA:1852 |
| Macular Dystrophy, Vitelliform, 3 |
|
Macular dystrophy, Drusen, Choroidal neovascularization, Vitelliform-like macular lesions, Macula... |
OMIM:608161 |
| Joubert Syndrome 35 |
|
Recurrent urinary tract infections, Renal fibrosis, Hydronephrosis, Rod-cone dystrophy, Multicyst... |
OMIM:618161 |
| Nephrotic Syndrome, Type 6 |
|
Tubulointerstitial fibrosis, Minimal change glomerulonephritis, Focal segmental glomerulosclerosi... |
OMIM:614196 |
| Ring Chromosome Y Syndrome |
|
Ambiguous genitalia, male, Gonadal dysgenesis, Abnormality of the female genitalia, Male hypogona... |
ORPHA:261529 |
| Retinal Dystrophy And Obesity |
|
Retinal dystrophy, Retinal detachment, Retinal dots, Attenuation of retinal blood vessels, Peripa... |
OMIM:616188 |
| Cone-Rod Dystrophy 13 |
|
Cone/cone-rod dystrophy, Macular degeneration |
OMIM:608194 |
| Focal Segmental Glomerulosclerosis 5 |
|
Microscopic hematuria, Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomeruloscle... |
OMIM:613237 |
| Focal Segmental Glomerulosclerosis 4, Susceptibility To |
|
Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis |
OMIM:612551 |
| Focal Segmental Glomerulosclerosis 3, Susceptibility To |
|
Hematuria, Proteinuria, Focal segmental glomerulosclerosis, Renal insufficiency |
OMIM:607832 |
| Lysine Malabsorption Syndrome |
|
Hyperlysinuria, Renal tubular lysine transport defect |
OMIM:247950 |
| Retinitis Pigmentosa 84 |
|
Macular coloboma, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, ... |
OMIM:618220 |
| Hypotrichosis, Congenital, With Juvenile Macular Dystrophy |
|
Macular degeneration, Subretinal deposits, Choriocapillaris atrophy |
OMIM:601553 |
| Alport Syndrome |
|
Clitoral hypertrophy, Renal glomerular foam cells, Glomerular C3 deposition, Tubulointerstitial f... |
ORPHA:63 |
| 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 |
| Renal Failure, Progressive, With Hypertension |
|
Elevated circulating creatinine concentration, Microscopic hematuria, Nephritis, Proteinuria, Sta... |
OMIM:161900 |
| Spermatogenic Failure 14 |
|
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te... |
OMIM:615842 |
| Retinitis Pigmentosa 19 |
|
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep... |
OMIM:601718 |
| Arima Syndrome |
|
Optic atrophy, Polyuria, Nephronophthisis, Hematuria, Retinal dystrophy, Tubulointerstitial fibro... |
OMIM:243910 |
| Morbid Obesity And Spermatogenic Failure |
|
Infertility, Oligozoospermia, Type II diabetes mellitus, Azoospermia |
OMIM:615703 |
| Focal Segmental Glomerulosclerosis 1 |
|
Hyperlipidemia, Focal segmental glomerulosclerosis, Hyperechogenic kidneys, Proteinuria, Reduced ... |
OMIM:603278 |
| 46,Xy Sex Reversal 11 |
|
Decreased cirrculating antimullerian hormone circulation, Abnormal internal genitalia, Aplasia of... |
OMIM:273250 |
| Cone-Rod Dystrophy 24 |
|
Macular degeneration, Macular drusen, Cone/cone-rod dystrophy, Attenuation of retinal blood vesse... |
OMIM:620342 |
| Amelogenesis Imperfecta, Type Ig |
|
Polyuria, Impaired renal concentrating ability, Enuresis, Nephrocalcinosis, Renal insufficiency |
OMIM:204690 |
| Nephronophthisis 13 |
|
Nephronophthisis, Glomerular sclerosis, Multilamellation of medullary peritubular capillary basem... |
OMIM:614377 |
| Retinitis Pigmentosa 9 |
|
Macular edema, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atrophy |
OMIM:180104 |
| Retinitis Pigmentosa 73 |
|
Bone spicule pigmentation of the retina, Geographic atrophy, Retinal atrophy, Macular crystals, E... |
OMIM:616544 |
| Fundus Dystrophy, Pseudoinflammatory, Recessive Form |
|
Central retinal exudate, Peripheral retinal degeneration, Retinal hemorrhage |
OMIM:264420 |
| Nephronophthisis-Like Nephropathy 1 |
|
Nephronophthisis, Tubular basement membrane disintegration, Renal tubular atrophy, Hyperechogenic... |
OMIM:613159 |
| Senior-Loken Syndrome |
|
Premature ovarian insufficiency, Nephronophthisis, Retinal dystrophy, Abnormality of retinal pigm... |
ORPHA:3156 |
| Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia |
|
Lattice retinal degeneration, Rhegmatogenous retinal detachment |
OMIM:619248 |
| Stargardt Disease |
|
Retinal thinning, Abnormality of macular pigmentation, Macular degeneration, Yellow/white lesions... |
ORPHA:827 |
| Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
| Progressive Bifocal Chorioretinal Atrophy |
|
Macular atrophy, Pigmentary retinopathy, Chorioretinal dystrophy |
ORPHA:75373 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Hyperuricemia, Focal segmental glomerulosclerosis, Renal cyst, Chronic kidney disease, Elevated c... |
OMIM:617056 |
| Premature Ovarian Failure 13 |
|
Oligomenorrhea, Elevated circulating follicle stimulating hormone level, Female infertility, Amen... |
OMIM:617442 |
| Idiopathic Non-Lupus Full-House Nephropathy |
|
Acute kidney injury, Glomerular C3 deposition, Abnormal glomerular mesangium morphology, Nephroti... |
ORPHA:567544 |
| Perrault Syndrome 6 |
|
Premature ovarian insufficiency, Secondary amenorrhea, Primary amenorrhea, Streak ovary, Hypoplas... |
OMIM:617565 |
| Nephrotic Syndrome, Type 22 |
|
Glomerular sclerosis, Nephrotic range proteinuria, Hypoproteinemia, Podocyte foot process effacem... |
OMIM:619155 |
| Cone-Rod Dystrophy 21 |
|
Macular atrophy, Retinal dystrophy |
OMIM:616502 |
| Nephrotic Syndrome, Type 4 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Nephroblastoma, Diffuse mesangial scleros... |
OMIM:256370 |
| Premature Ovarian Failure 7 |
|
Gonadal dysgenesis, Clitoral hypertrophy, Premature ovarian insufficiency, Secondary amenorrhea, ... |
OMIM:612964 |
| Galloway-Mowat Syndrome 8 |
|
Hematuria, Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal tubular atrophy, Protein... |
OMIM:618349 |
| Bardet-Biedl Syndrome 21 |
|
Retinal thinning, Hyperautofluorescent macular lesion, Retinal atrophy, Cone/cone-rod dystrophy, ... |
OMIM:617406 |
| Diethylstilbestrol Syndrome |
|
Premature ovarian insufficiency, Hypoplasia of the uterus, Hypospadias, Decreased fertility in fe... |
ORPHA:1916 |
| Nephrotic Syndrome, Type 3 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Hypoalbuminemia, Diffuse mes... |
OMIM:610725 |
| Ophthalmoplegia, External, And Myopia |
|
Retinal degeneration, Chorioretinal degeneration |
OMIM:311000 |
| Premature Ovarian Failure 6 |
|
Premature ovarian insufficiency, Secondary amenorrhea, Elevated circulating follicle stimulating ... |
OMIM:612310 |
| Hypogonadotropic Hypogonadism 11 With Or Without Anosmia |
|
Microphallus, Decreased testicular size, Absence of pubertal development, Primary amenorrhea, Cry... |
OMIM:614840 |
| Retinitis Pigmentosa 27 |
|
Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Chorioretinal atrop... |
OMIM:613750 |
| Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Delayed puberty, Hypoplasia of the ovary, Decreased circulating gonadotropin concentration, Decre... |
OMIM:614841 |
| Retinitis Pigmentosa 80 |
|
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular atrophy |
OMIM:617781 |
| Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Retinal detachment, Peripheral vitreoretinal degeneration, Vitreous floaters, Lattice retinal deg... |
OMIM:614292 |
| Interstitial Nephritis, Karyomegalic |
|
Nephronophthisis, Hematuria, Elevated circulating creatinine concentration, Increased blood urea ... |
OMIM:614817 |
| Young Syndrome |
|
Azoospermia |
OMIM:279000 |
| Nephrotic Syndrome, Type 12 |
|
Hematuria, Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Diffuse mesa... |
OMIM:616892 |
| Senior-Boichis Syndrome |
|
Tubular luminal dilatation, Renal atrophy, Abnormal renal insterstitial morphology, Increased tot... |
ORPHA:84081 |
| Coenzyme Q10 Deficiency, Primary, 6 |
|
Nephrolithiasis, Focal segmental glomerulosclerosis, Diffuse mesangial sclerosis, Proteinuria, St... |
OMIM:614650 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate E |
|
Elevated circulating creatine kinase concentration, Stage 5 chronic kidney disease, Proteinuria, ... |
OMIM:614455 |
| Cone-Rod Dystrophy 16 |
|
Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy, Attenuation of retinal blood ve... |
OMIM:614500 |
| Retinitis Pigmentosa 86 |
|
Bone spicule pigmentation of the retina, Cystoid macular edema, Nummular pigmentation of the fund... |
OMIM:618613 |
| Central Retinal Vein Occlusion |
|
Retinal neovascularization, Macular degeneration, Cystoid macular edema, Intraretinal hemorrhage,... |
ORPHA:411527 |
| Ventriculomegaly With Cystic Kidney Disease |
|
Hyperechogenic kidneys, Renal insufficiency, Tubular luminal dilatation, Renal corticomedullary c... |
OMIM:219730 |
| Hanac Syndrome |
|
Hematuria, Retinal vascular tortuosity, Multiple renal cysts, Renal insufficiency |
ORPHA:73229 |
| 46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Gonadal dysgenesis, Abnormal female external genitalia morphology, Male hypogonadism, Abnormal va... |
ORPHA:168563 |
| 46,Xx Ovotesticular Difference Of Sex Development |
|
Abnormal male internal genitalia morphology, Hypospadias, Hypoplasia of penis, Abnormal scrotal r... |
ORPHA:2138 |
| Frasier Syndrome |
|
Gonadal dysgenesis, Focal segmental glomerulosclerosis, Male pseudohermaphroditism, Ovarian gonad... |
OMIM:136680 |
| Bartter Syndrome, Type 3 |
|
Renal salt wasting, Polyuria, Hyperchloriduria, Hypokalemia, Hypocalciuria, Renal potassium wasti... |
OMIM:607364 |
| Double Uterus-Hemivagina-Renal Agenesis Syndrome |
|
Partial vaginal septum, Dyspareunia, Uterus didelphys, Hydrocolpos, Dysmenorrhea, Abnormal uterin... |
ORPHA:3411 |
| Spermatogenic Failure 13 |
|
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te... |
OMIM:615841 |
| Leydig Cell Hypoplasia |
|
Absence of secondary sex characteristics, Testicular gonadoblastoma, Aplasia of the uterus, Femal... |
ORPHA:755 |
| Vitreoretinal Degeneration, Snowflake Type |
|
Retinal detachment, Retinal dots, Optically empty vitreous, Snowflake vitreoretinal degeneration |
OMIM:193230 |
| Achromatopsia 7 |
|
Absent foveal reflex, Macular atrophy, Hypoplasia of the fovea |
OMIM:616517 |
| Ovarian Dysgenesis 7 |
|
Delayed puberty, Elevated circulating follicle stimulating hormone level, Elevated circulating lu... |
OMIM:618117 |
| Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development |
|
Hypokalemia, Hyperamylasemia, Bicarbonate-wasting renal tubular acidosis, Impaired renal tubular ... |
OMIM:604278 |
| Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2 |
|
Nephrotic syndrome, Mesangial hypercellularity, Focal segmental glomerulosclerosis |
OMIM:620425 |
| Papillorenal Syndrome |
|
Elevated circulating creatinine concentration, Renal malrotation, Stage 5 chronic kidney disease,... |
OMIM:120330 |
| Cone-Rod Dystrophy 15 |
|
Attenuation of retinal blood vessels, Rod-cone dystrophy, Retinal pigment epithelial atrophy |
OMIM:613660 |
| Retinitis Pigmentosa 77 |
|
Bone spicule pigmentation of the retina, Cystoid macular edema, Retinal atrophy, Attenuation of r... |
OMIM:617304 |
| Mesangial sclerosis, diffuse renal, with ocular abnormalities |
|
Optic atrophy, Nephrotic syndrome, Retinal arteriolar constriction, Diffuse mesangial sclerosis, ... |
OMIM:249660 |
| Frasier Syndrome |
|
Ambiguous genitalia, male, Glomerulopathy, Focal segmental glomerulosclerosis, Hypergonadotropic ... |
ORPHA:347 |
| Ovarian Dysgenesis 9 |
|
Delayed puberty, Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone ci... |
OMIM:619665 |
| Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Hypoplasia of the uterus, Azoospermia, Decreased circulating follicle stimulating hormone concent... |
OMIM:614837 |
| Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Azoospermia, Decreased circulating follicle stimulating hormone concentration, Infertility, Decre... |
OMIM:229070 |
| Spermatogenic Failure, X-Linked, 4 |
|
Male infertility, Azoospermia, Abnormal prolactin level, Elevated circulating follicle stimulatin... |
OMIM:301077 |
| X-Linked Neurodegenerative Syndrome, Bertini Type |
|
Macular degeneration |
ORPHA:85334 |
| Senior-Loken Syndrome 9 |
|
Nephronophthisis, Retinal dystrophy, Macular degeneration, Hypogonadism, Stage 5 chronic kidney d... |
OMIM:616629 |
| Primary Membranoproliferative Glomerulonephritis |
|
Acute kidney injury, Drusen, Glomerular subendothelial electron-dense deposits, Nephrotic syndrom... |
ORPHA:54370 |
| Premature Ovarian Failure 18 |
|
Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone circulation, Hypopl... |
OMIM:619203 |
| Bartter Syndrome Type 4 |
|
Renal salt wasting, Acute kidney injury, Hyperprostaglandinuria, Hypokalemia, Hypercalciuria, Imp... |
ORPHA:89938 |
| Microphthalmia, Isolated 5 |
|
Bone spicule pigmentation of the retina, Foveoschisis, Cystoid macular edema, Optic disc drusen, ... |
OMIM:611040 |
| Ceroid Lipofuscinosis, Neuronal, 2 |
|
Retinal degeneration |
OMIM:204500 |
| Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis |
|
Retinal arterial macroaneurysms, Exudative retinal detachment |
OMIM:614224 |
| Macular Dystrophy, Retinal, 3 |
|
Macular drusen, Retinal neovascularization, Hyperautofluorescent macular lesion, Retinal pigment ... |
OMIM:608850 |
| Premature Ovarian Failure 10 |
|
Premature ovarian insufficiency, Azoospermia, Hypoplasia of the ovary, Hypothyroidism, Decreased ... |
OMIM:612885 |
| Bardet-Biedl Syndrome 17 |
|
Polyuria, Bone spicule pigmentation of the retina, Renal cyst, Cone/cone-rod dystrophy, Hypogonad... |
OMIM:615994 |
| Cataract-Nephropathy-Encephalopathy Syndrome |
|
Renal tubular dysfunction |
ORPHA:1380 |
| Reni Syndrome |
|
Hypertriglyceridemia, Focal segmental glomerulosclerosis, Podocyte foot process effacement, Nephr... |
OMIM:617575 |
| Retinitis Pigmentosa 45 |
|
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:613767 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Calcinosis, Increased renal tubular phosphate reabsorption, Angioid streaks of the fundus, Nephro... |
OMIM:211900 |
| Enamel-Renal Syndrome |
|
Hypocalciuria, Renal insufficiency, Impaired renal concentrating ability, Hypophosphaturia, Enure... |
ORPHA:1031 |
| Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia |
|
Retinal degeneration |
OMIM:617173 |
| Bietti Crystalline Dystrophy |
|
Retinal thinning, Chorioretinal degeneration, Cystoid macular edema, Subretinal deposits, Chorioc... |
ORPHA:41751 |
| Retinitis Pigmentosa 79 |
|
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular atrophy, O... |
OMIM:617460 |
| 46,Xy Sex Reversal 3 |
|
Gonadal dysgenesis, Clitoral hypertrophy, Penoscrotal hypospadias, Exaggerated rugosity of the la... |
OMIM:612965 |
| Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Short sperm flagella, Male infertility, Coiled sperm flagella |
OMIM:620197 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypertriglyceridemia, Acute kidney injury, Abnormal circulating lipid concentration, Hypercholest... |
ORPHA:567548 |
| Coenzyme Q10 Deficiency, Primary, 1 |
|
Glomerular sclerosis, Recurrent myoglobinuria, Elevated circulating creatine kinase concentration... |
OMIM:607426 |
| Fanconi Renotubular Syndrome 1 |
|
Low-molecular-weight proteinuria, Hypokalemia, Renal tubular dysfunction, Glycosuria, Hyperphosph... |
OMIM:134600 |
| Nephrotic Syndrome, Type 1 |
|
Glomerular sclerosis, Hypoproteinemia, Hyperlipidemia, Congenital nephrotic syndrome, Renal tubul... |
OMIM:256300 |
| Nephrotic Syndrome, Type 11 |
|
Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal ... |
OMIM:616730 |
| Renal Tubular Dysgenesis |
|
Renotubular dysgenesis, Proximal tubulopathy, Nephropathy, Multiple renal cysts |
ORPHA:3033 |
| Senior-Loken Syndrome 4 |
|
Polyuria, Stage 5 chronic kidney disease, Nephronophthisis, Rod-cone dystrophy |
OMIM:606996 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Optic atrophy, Hyperammonemia, Renal insufficiency, Renal tubular dysfunction |
ORPHA:289916 |
| Nephronophthisis-Like Nephropathy 2 |
|
Polyuria, Elevated circulating creatinine concentration, Tubular luminal dilatation, Periglomerul... |
OMIM:619468 |
| Hypomagnesemia 6, Renal |
|
Hypomagnesemia, Impaired renal tubular reabsorption of magnesium |
OMIM:613882 |
| Achromatopsia |
|
Inner retinal layer loss on macular OCT, Attenuation of retinal blood vessels, Hypoplasia of the ... |
ORPHA:49382 |
| Cone-Rod Dystrophy, X-Linked, 1 |
|
Hypoautofluorescent macular lesion, Retinal pigment epithelial mottling, Retinal pigment epitheli... |
OMIM:304020 |
| Galloway-Mowat Syndrome 5 |
|
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Proteinuria, Focal segmenta... |
OMIM:617731 |
| Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
|
Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of retinal blood vessels,... |
OMIM:616108 |
| Retinitis Pigmentosa 58 |
|
Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse... |
OMIM:613617 |
| Galloway-Mowat Syndrome 2, X-Linked |
|
Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Nephrotic syndrome, Protei... |
OMIM:301006 |
| Adrenal Hypoplasia, Congenital |
|
Delayed puberty, Azoospermia, Adrenal hypoplasia, Oligozoospermia, Precocious puberty, Absence of... |
OMIM:300200 |
| Omphalocele-Cleft Palate Syndrome, Lethal |
|
Bicornuate uterus |
OMIM:258320 |
| Ovarian Dysgenesis 5 |
|
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... |
OMIM:617690 |
| Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Optic atrophy, Retinal degeneration |
OMIM:614322 |
| Birdshot Chorioretinopathy |
|
Abnormal chorioretinal morphology, Retinal thinning, Choroidal neovascularization, Vitritis, Cyst... |
ORPHA:179 |
| Homozygous 11P15-P14 Deletion Syndrome |
|
Generalized aminoaciduria, Renal tubular dysfunction |
OMIM:606528 |
| Nephronophthisis 18 |
|
Nephronophthisis, Thickened glomerular basement membrane, Renal tubular atrophy, Stage 5 chronic ... |
OMIM:615862 |
| Polycystic Kidney Disease 7 |
|
Multiple renal cysts, Renal interstitial fibrosis, Stage 5 chronic kidney disease, Renal insuffic... |
OMIM:620056 |
| Kennedy Disease |
|
Decreased fertility, Type II diabetes mellitus, Erectile dysfunction, Testicular atrophy |
ORPHA:481 |
| Complete Androgen Insensitivity Syndrome |
|
Blind vagina, Female external genitalia in individual with 46,XY karyotype, Delayed puberty, Abno... |
ORPHA:99429 |
| Spondylometaphyseal Dysplasia, Axial |
|
Optic atrophy, Cone/cone-rod dystrophy, Reduced sperm motility, Retinal degeneration, Rod-cone dy... |
OMIM:602271 |
| Retinitis Pigmentosa 41 |
|
Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary retinopathy, Attenuatio... |
OMIM:612095 |
| Retinitis Pigmentosa 50 |
|
Retinal detachment, Attenuation of retinal blood vessels, Retinal flecks, Rod-cone dystrophy, Opt... |
OMIM:613194 |
| Retinitis Pigmentosa 10 |
|
Bone spicule pigmentation of the retina, Geographic atrophy, Bull's eye maculopathy, Attenuation ... |
OMIM:180105 |
| Oguchi Disease |
|
Congenital stationary night blindness, Macular degeneration, Rod-cone dystrophy, Mizuo phenomenon |
ORPHA:75382 |
| Birdshot Chorioretinopathy |
|
Abnormal chorioretinal morphology, Vitreous floaters, Vitritis, Retinal pigment epithelial atrophy |
OMIM:605808 |
| Coloboma Of Optic Nerve |
|
Retinal detachment, Optic disc coloboma |
OMIM:120430 |
| Macular Degeneration, Age-Related, 3 |
|
Macular degeneration, Drusen, Choroidal neovascularization |
OMIM:608895 |
| Ceroid Lipofuscinosis, Neuronal, 3 |
|
Optic atrophy, Macular degeneration, Retinal degeneration, Rod-cone dystrophy |
OMIM:204200 |
| Histidinuria Due To A Renal Tubular Defect |
|
Impaired histidine renal tubular absorption, Histidinuria |
OMIM:235830 |
| Oligomeganephronia |
|
Elevated circulating creatinine concentration, Abnormal nephron morphology, Decreased glomerular ... |
ORPHA:2260 |
| Adenine Phosphoribosyltransferase Deficiency |
|
Hematuria, Nephrolithiasis, Urolithiasis, Oliguria, Elevated circulating creatinine concentration... |
OMIM:614723 |
| Leber Congenital Amaurosis 4 |
|
Cone/cone-rod dystrophy, Attenuation of retinal blood vessels, Macular atrophy, Optic disc pallor |
OMIM:604393 |
| Histidinuria-Renal Tubular Defect Syndrome |
|
Impaired histidine renal tubular absorption, Histidinuria |
ORPHA:2158 |
| Perrault Syndrome 3 |
|
Hypergonadotropic hypogonadism, Elevated circulating follicle stimulating hormone level, Elevated... |
OMIM:614129 |
| Bardet-Biedl Syndrome 9 |
|
Bone spicule pigmentation of the retina, Renal insufficiency, Attenuation of retinal blood vessel... |
OMIM:615986 |
| Perrault Syndrome 4 |
|
Premature ovarian insufficiency, Hypoplasia of the ovary, Secondary amenorrhea, Bicornuate uterus... |
OMIM:615300 |
| Genetic Steroid-Resistant Nephrotic Syndrome |
|
Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Proteinuria, Chronic kidne... |
ORPHA:656 |
| Androgen Insensitivity, Partial |
|
Absent vas deferens, Azoospermia, Infertility, Bifid scrotum, Male pseudohermaphroditism, Cryptor... |
OMIM:312300 |
| Bardet-Biedl Syndrome 2 |
|
Retinal degeneration, External genital hypoplasia, Rod-cone dystrophy, Hypogonadism |
OMIM:615981 |
| Caudal Duplication Anomaly |
|
Uterus didelphys |
OMIM:607864 |
| Spastic Paraplegia 11, Autosomal Recessive |
|
Urinary incontinence, Macular degeneration, Urinary urgency, Urinary bladder sphincter dysfunctio... |
OMIM:604360 |
| Joubert Syndrome 15 |
|
Nephronophthisis, Retinal dystrophy, Retinopathy, Ambiguous genitalia, Micropenis |
OMIM:614464 |
| Hypogonadism-Cataract Syndrome |
|
Infertility, Male hypogonadism, Elevated circulating follicle stimulating hormone level, Hypogona... |
OMIM:240950 |
| Partial Androgen Insensitivity Syndrome |
|
Clitoral hypertrophy, Increased circulating antimullerian hormone concentration, Aplasia of the u... |
ORPHA:90797 |
| 46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency |
|
Ambiguous genitalia, male, Hypoplasia of penis, Abnormality of the endocrine system, Bifid scrotu... |
ORPHA:753 |
| Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... |
OMIM:614842 |
| Dent Disease 2 |
|
Low-molecular-weight proteinuria, Hypercalciuria, Proximal tubulopathy, Elevated circulating crea... |
OMIM:300555 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Optic atrophy, Cone/cone-rod dystrophy, Retinal degeneration, Cryptorchidism, Aminoaciduria |
OMIM:249270 |
| Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Chronic tubulointerstitial nephritis, Elevated circulating creatinine concentration, Renal hypopl... |
OMIM:614376 |
| Testicular Agenesis |
|
Hypoplasia of the uterus, Abnormal vas deferens morphology, Urogenital sinus anomaly, Decreased s... |
ORPHA:325124 |
| 46,Xy Sex Reversal 7 |
|
Streak ovary, Abnormal epididymis morphology, Gonadoblastoma, Hypoplasia of the fallopian tube, P... |
OMIM:233420 |
| Nephronophthisis 20 |
|
Nephronophthisis, Vesicoureteral reflux, Renal cyst, Stage 5 chronic kidney disease, Renal insuff... |
OMIM:617271 |
| Hypouricemia, Renal, 1 |
|
Acute kidney injury, Renal tubular epithelial necrosis, Hypouricemia, Uric acid nephrolithiasis, ... |
OMIM:220150 |
| Ceroid Lipofuscinosis, Neuronal, 1 |
|
Optic atrophy, Macular degeneration, Retinal degeneration |
OMIM:256730 |
| Coloboma Of Macula |
|
Macular coloboma |
OMIM:120300 |
| Nephronophthisis 7 |
|
Stage 5 chronic kidney disease, Nephronophthisis, Renal tubular atrophy |
OMIM:611498 |
| Nephronophthisis 2 |
|
Hyperkalemia, Chronic tubulointerstitial nephritis, Enlarged kidney, Nephronophthisis, Elevated c... |
OMIM:602088 |
| Galloway-Mowat Syndrome 6 |
|
Nephrotic syndrome, Hypoalbuminemia, Proteinuria, Focal segmental glomerulosclerosis |
OMIM:618347 |
| Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Delayed puberty, Absence of secondary sex characteristics, Breast hypoplasia, Hypoplasia of the u... |
ORPHA:432 |
| Autosomal Recessive Spastic Paraplegia Type 46 |
|
Abnormal sperm head morphology, Infertility, Decreased testicular size, Reduced sperm motility, A... |
ORPHA:320391 |
| Bardet-Biedl Syndrome 6 |
|
External genital hypoplasia, Hypospadias, Renal cyst, Vaginal atresia, Rod-cone dystrophy, Pigmen... |
OMIM:605231 |
| Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Aplasia/hypoplasia of the uterus, Bicornuate uterus, Azoospermia |
ORPHA:2578 |
| Functioning Gonadotropic Adenoma |
|
Delayed puberty, Impotence, Ovarian cyst, Decreased female libido, Decreased response to growth h... |
ORPHA:91348 |
| Rhyns Syndrome |
|
Nephronophthisis, Rod-cone dystrophy, Multicystic kidney dysplasia |
ORPHA:140976 |
| Myopia 3, Autosomal Dominant |
|
Retinal detachment |
OMIM:603221 |
| Myopia 25, Autosomal Dominant |
|
Retinal detachment |
OMIM:617238 |
| Myopia 2, Autosomal Dominant |
|
Retinal detachment |
OMIM:160700 |
| Myopia 5, Autosomal Dominant |
|
Retinal detachment |
OMIM:608474 |
| Hypotaurinemic Retinal Degeneration And Cardiomyopathy |
|
Retinal thinning, Photoreceptor layer loss on macular OCT, Attenuation of retinal blood vessels, ... |
OMIM:145350 |
| Galloway-Mowat Syndrome 7 |
|
Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal ... |
OMIM:618348 |
| Rudiger Syndrome |
|
Ovarian cyst, Bicornuate uterus, Micropenis |
OMIM:268650 |
| Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Glomerular sclerosis, Retinal neovascularization, Retinal cotton wool spot, Proteinuria, Abnormal... |
ORPHA:247691 |
| Vaginal Atresia |
|
Transverse vaginal septum, Vaginal hematocele, Imperforate hymen, Bicornuate uterus, Cervicitis, ... |
ORPHA:65681 |
| Dent Disease |
|
Low-molecular-weight proteinuria, Hematuria, Renal phosphate wasting, Tubulointerstitial fibrosis... |
ORPHA:1652 |
| Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Hypospadias, Glomerular sclerosis, Nephrotic syndrome, Proteinuria, Glomerulonephritis |
OMIM:619428 |
| Galloway-Mowat Syndrome 4 |
|
Focal segmental glomerulosclerosis, Congenital nephrotic syndrome, Nephrotic syndrome, Diffuse me... |
OMIM:617730 |
| Renal Tubular Acidosis, Distal, 1 |
|
Hypokalemia, Hypocalcemia, Impaired urinary acidification, Nephrolithiasis, Nephrocalcinosis, Dis... |
OMIM:179800 |
| Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Delayed puberty, Azoospermia, Secondary amenorrhea, Testicular microlithiasis, Decreased circulat... |
OMIM:228300 |
| Joubert Syndrome 16 |
|
Renal cyst, Nephronophthisis, Retinal dystrophy |
OMIM:614465 |
| C3 Glomerulopathy 3 |
|
Mesangial matrix expansion, Glomerular subendothelial electron-dense deposits, Glomerular C3 depo... |
OMIM:614809 |
| Renal Dysplasia, Cystic, Susceptibility To |
|
Vesicoureteral reflux, Hyperechogenic kidneys, Renal dysplasia, Renal insufficiency, Cystic renal... |
OMIM:601331 |
| Diabetes And Deafness, Maternally Inherited |
|
Retinal degeneration, Pigmentary retinopathy |
OMIM:520000 |
| Aapoaiv Amyloidosis |
|
Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Glomerular sclerosis, Hyp... |
ORPHA:439232 |
| Familial Renal Glucosuria |
|
Recurrent urinary tract infections, Glycosuria, Nephropathy, Renal tubular dysfunction |
ORPHA:69076 |
| Cystinosis |
|
Hypokalemia, Nephropathy, Retinopathy, Proteinuria, Hypophosphatemia, Renal insufficiency, Aminoa... |
ORPHA:213 |
| Refsum Disease, Classic |
|
Elevated circulating phytanic acid concentration, Retinal degeneration, Rod-cone dystrophy, Abnor... |
OMIM:266500 |
| Hsd10 Mitochondrial Disease |
|
Optic atrophy, Retinal degeneration, Elevated circulating tiglylglycine concentration, Abnormal m... |
OMIM:300438 |
| Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse... |
OMIM:618195 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Hematuria, Glomerular sclerosis, Elevated urinary epinephrine level, Elevated urinary norepinephr... |
ORPHA:276621 |
| Spastic Paraplegia 15, Autosomal Recessive |
|
Urinary incontinence, Macular degeneration, Urinary urgency, Urinary bladder sphincter dysfunctio... |
OMIM:270700 |
| Polycystic Kidney Disease 5 |
|
Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys, Reduced renal corticomedull... |
OMIM:617610 |
| Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Hypospadias, Abnormal vagina morphology, Cryptorchidism, Abnormality of the uterus, Streak ovary,... |
OMIM:194072 |
| Hypomelia With Mullerian Duct Anomalies |
|
Uterus didelphys, Longitudinal vaginal septum |
OMIM:146160 |
| Joubert Syndrome 6 |
|
Retinal degeneration, Stage 5 chronic kidney disease, Chorioretinal coloboma, Nephronophthisis |
OMIM:610688 |
| Renal Hypodysplasia/Aplasia 3 |
|
Vesicoureteral reflux, Renal agenesis, Hydronephrosis, Abnormality of the uterus, Renal dysplasia... |
OMIM:617805 |
| 47,Xyy Syndrome |
|
Male infertility, Hypospadias, Increased serum testosterone level, Azoospermia, Oligozoospermia, ... |
ORPHA:8 |
| Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment |
|
Elevated circulating creatinine concentration, Nephropathy, Decreased glomerular filtration rate |
OMIM:242530 |
| Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Azoospermia, Decreased circulating follicle stimulating hormone concentration, Decreased circulat... |
OMIM:614897 |
| Retinitis Pigmentosa 56 |
|
Bone spicule pigmentation of the retina, Pigmentary retinopathy, Attenuation of retinal blood ves... |
OMIM:613581 |
| Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Hematuria, Renal insufficiency, Elevated circulating creatine kinase concentration, Renal cyst, R... |
OMIM:611773 |
| Osteopetrosis, Autosomal Recessive 9 |
|
Hyperkalemia, Papilledema, Elevated circulating creatinine concentration, Stage 3 chronic kidney ... |
OMIM:620366 |
| Maternal Uniparental Disomy Of Chromosome 2 |
|
Premature ovarian insufficiency, Hypospadias, Bilateral cryptorchidism, Chordee, Elevated amnioti... |
ORPHA:96179 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Enlarged kidney, Elevated circulating creatinine concentration, Hematuria, Decreased glomerular f... |
ORPHA:730 |
| Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Optic atrophy, Hyperphosphaturia, Glycosuria, Renal Fanconi syndrome, Proteinuria, Aminoaciduria,... |
ORPHA:436271 |
| Coenzyme Q10 Deficiency, Primary, 8 |
|
Renal dysplasia, Elevated circulating creatinine concentration, Abnormal renal corticomedullary d... |
OMIM:616733 |
| Denys-Drash Syndrome |
|
Ambiguous genitalia, male, Gonadal dysgenesis, Enlarged kidney, Ambiguous genitalia, female, Male... |
OMIM:194080 |
| Retinitis Pigmentosa 51 |
|
Abnormality of the kidney, Bone spicule pigmentation of the retina, Macular degeneration, Attenua... |
OMIM:613464 |
| Leber Congenital Amaurosis 9 |
|
Optic atrophy, Macular coloboma, Macular hypopigmentation, Bone spicule pigmentation of the retin... |
OMIM:608553 |
| Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
|
Cryptorchidism, Oligozoospermia |
OMIM:314300 |
| Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Acute kidney injury, Renal insufficiency, Hyperuricemia, Dysuria, Uric acid nephrolithiasis, Macr... |
ORPHA:79233 |
| Combined Oxidative Phosphorylation Deficiency 24 |
|
Optic atrophy, Elevated circulating creatine kinase concentration, Focal segmental glomeruloscler... |
OMIM:616239 |
| Glycogen Storage Disease Ia |
|
Enlarged kidney, Decreased glomerular filtration rate, Hyperuricemia, Hyperlipidemia, Nephrolithi... |
OMIM:232200 |
| Aicardi-Goutieres Syndrome 9 |
|
Optic atrophy, Glomerular sclerosis, Renal insufficiency, Recurrent urinary tract infections, Cho... |
OMIM:619487 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Renal interstitial amyloid deposits, Male infertility, Decreased HDL cholesterol concentration, P... |
ORPHA:85450 |
| Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome |
|
Absent foveal reflex, Peripheral retinal atrophy, Retinal dystrophy |
OMIM:615147 |
| Coach Syndrome 2 |
|
Elevated circulating creatinine concentration, Hyperechogenic kidneys, Chorioretinal coloboma |
OMIM:619111 |
| Cone-Rod Dystrophy 10 |
|
Attenuation of retinal blood vessels, Macular degeneration, Bone spicule pigmentation of the reti... |
OMIM:610283 |
| Microphthalmia, Syndromic 12 |
|
Cryptorchidism, Bicornuate uterus |
OMIM:615524 |
| Renal Coloboma Syndrome |
|
Optic nerve dysplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Retinal coloboma, Ren... |
ORPHA:1475 |
| 46,Xx Sex Reversal 2 |
|
Hypoplasia of the uterus, Ovotestis, Azoospermia, Infertility, Bifid scrotum, Decreased serum tes... |
OMIM:278850 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Delayed puberty, Ambiguous genitalia, male, Absence of secondary sex characteristics, Precocious ... |
ORPHA:90793 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Retinal degeneration, Nephronophthisis, Chronic kidney disease |
OMIM:615630 |
| Jeune Syndrome |
|
Abnormality of retinal pigmentation, Renal insufficiency, Nephronophthisis, Nephropathy |
ORPHA:474 |
| Nephronophthisis 12 |
|
Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:613820 |
| Ciliary Dyskinesia, Primary, 45 |
|
Absent inner and outer dynein arms, Male infertility |
OMIM:618801 |
| Retinitis Pigmentosa 87 With Choroidal Involvement |
|
Nummular pigmentation of the fundus, Chorioretinal atrophy, Bone spicule pigmentation of the reti... |
OMIM:618697 |
| 46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Delayed puberty, Ambiguous genitalia, male, Absence of secondary sex characteristics, Abnormal se... |
ORPHA:90796 |
| Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies |
|
Medullary nephrocalcinosis, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Renal hyp... |
OMIM:611555 |
| Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Abnormal female external genitalia morphology, Aplasia of the upper vagina, Aplasia of the vagina... |
OMIM:277000 |
| Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Polyuria, Proximal tubulopathy, Pigmentary retinopathy |
OMIM:560000 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Hematuria, Glomerular sclerosis, Retinal capillary hemangioma, Elevated urinary epinephrine level... |
ORPHA:29072 |
| Abetalipoproteinemia |
|
Retinopathy, Retinal degeneration |
OMIM:200100 |
| Cone-Rod Dystrophy 8 |
|
Macular degeneration, Abnormal optic nerve morphology, Cone/cone-rod dystrophy, Abnormality of re... |
OMIM:605549 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Optic atrophy, Hyperphosphaturia, Glycosuria, Renal Fanconi syndrome, Proteinuria, Aminoaciduria,... |
OMIM:220110 |
| Ovarian Fibrothecoma |
|
Increased serum testosterone level, Abnormal circulating hormone concentration, Ovarian fibroma, ... |
ORPHA:314478 |
| 46,Xy Partial Gonadal Dysgenesis |
|
Delayed puberty, Abnormal labia morphology, Testicular gonadoblastoma, Gonadal dysgenesis, Clitor... |
ORPHA:251510 |
| Exudative Vitreoretinopathy 6 |
|
Posterior vitreous detachment, Retinal exudate, Patchy atrophy of the retinal pigment epithelium,... |
OMIM:616468 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Acute kidney injury, Elevated circulating creatinine concentration, Hematuria, Hemolytic-uremic s... |
OMIM:612925 |
| Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Optic atrophy, Bone spicule pigmentation of the retina, Glycosuria, Stage 5 chronic kidney diseas... |
OMIM:268315 |
| Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Hypergonadotropic hypogonadism, Azoospermia |
OMIM:613724 |
| 46,Xy Complete Gonadal Dysgenesis |
|
Polycystic ovaries, Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis |
ORPHA:242 |
| Mullerian Aplasia And Hyperandrogenism |
|
Increased circulating androstenedione concentration, Aplasia of the vagina, Abnormal external gen... |
OMIM:158330 |
| Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Elevated circulating creatinine concentration, Hypokalemia, Polycystic kidney dysplasia, Recurren... |
OMIM:613095 |
| Ceroid Lipofuscinosis, Neuronal, 5 |
|
Retinal degeneration |
OMIM:256731 |
| Retinitis Punctata Albescens |
|
Yellow/white lesions of the retina, Cystoid macular edema, Retinal atrophy, Attenuation of retina... |
ORPHA:52427 |
| Retinitis Pigmentosa 60 |
|
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep... |
OMIM:613983 |
| Pauci-Immune Glomerulonephritis |
|
Acute kidney injury, Decreased glomerular filtration rate, Glomerular sclerosis, Nephrotic range ... |
ORPHA:93126 |
| Retinitis Pigmentosa 23 |
|
Absent foveal reflex, Attenuation of retinal blood vessels, Rod-cone dystrophy, Retinal pigment e... |
OMIM:300424 |
| Joubert Syndrome 20 |
|
Retinopathy, Renal cyst |
OMIM:614970 |
| Hemochromatosis, Type 2A |
|
Amenorrhea, Infertility, Hypogonadotropic hypogonadism, Azoospermia |
OMIM:602390 |
| Preeclampsia |
|
Acute kidney injury, Abnormality of the kidney, Elevated circulating creatinine concentration, Pr... |
ORPHA:275555 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Optic atrophy, Enlarged kidney, Focal segmental glomerulosclerosis, Chorioretinal hypopigmentatio... |
OMIM:617303 |
| 46,Xx Sex Reversal 1 |
|
Clitoral hypertrophy, Ovotestis, Hypospadias, Azoospermia, Bicornuate uterus, True hermaphroditis... |
OMIM:400045 |
| Hsd10 Disease, Infantile Type |
|
Optic atrophy, Hyperammonemia, Rod-cone dystrophy, Retinal degeneration, Abnormal concentration o... |
ORPHA:391428 |
| Thrombotic Thrombocytopenic Purpura |
|
Acute kidney injury, Hematuria, Decreased serum creatinine, Proteinuria, Renal insufficiency |
ORPHA:54057 |
| Glycogen Storage Disease Ib |
|
Enlarged kidney, Decreased glomerular filtration rate, Hyperuricemia, Hyperlipidemia, Nephrolithi... |
OMIM:232220 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anuria, Increased blood urea nitrogen,... |
OMIM:612923 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anuria, Increased blood urea nitrogen,... |
OMIM:612922 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anuria, Increased blood urea nitrogen,... |
OMIM:612926 |
| Lysinuric Protein Intolerance |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Argininuria, Decreased glomerular ... |
ORPHA:470 |
| Severe Early-Childhood-Onset Retinal Dystrophy |
|
Granular macular appearance, Macular coloboma, Bone spicule pigmentation of the retina, Retinal d... |
ORPHA:364055 |
| Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Decreased fertility, Testicular atrophy |
OMIM:313200 |
| Paget Disease Of Bone 5, Juvenile-Onset |
|
Angioid streaks of the fundus, Hydroxyprolinemia, Hyperuricemia, Hypercalciuria, Increased urine ... |
OMIM:239000 |
| Infantile Nephropathic Cystinosis |
|
Low-molecular-weight proteinuria, Hypokalemia, Glycosuria, Hyperphosphaturia, Renal Fanconi syndr... |
ORPHA:411629 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Orthostatic hypotension, Glomerular sclerosis, Increased blood urea nitrogen, Abnormal renal phys... |
OMIM:223900 |
| Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Minimal change glomerulonephritis, Hyperlipidemia, Focal segmental glomerulosclerosis, Microscopi... |
ORPHA:567546 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anuria, Increased blood urea nitrogen,... |
OMIM:612924 |
| Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Azoospermia, Decreased circulating follicle stimulating hormone concentration, Decreased circulat... |
OMIM:308700 |
| Myopia 28, Autosomal Recessive |
|
Retinal detachment |
OMIM:619781 |
| Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Abnormality of the hypothalamus-pituitary axis, Azoospermia |
ORPHA:2183 |
| Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1 |
|
Nephrotic syndrome, Mild proteinuria, Focal segmental glomerulosclerosis |
OMIM:301108 |
| Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Hyperprostaglandinuria, Hypercalciuria, Hypocalcemia, Abnormal renal tubular resorption, Hypermag... |
ORPHA:73224 |
| 46,Xy Sex Reversal 4 |
|
Gonadal dysgenesis, Hypoplastic labia majora, Hypergonadotropic hypogonadism, Increased blood ure... |
OMIM:154230 |
| Nephrotic Syndrome, Type 21 |
|
Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis... |
OMIM:618594 |
| Spinocerebellar Ataxia 7 |
|
Optic atrophy, Macular degeneration, Pigmentary retinopathy |
OMIM:164500 |
| Mucolipidosis Iv |
|
Optic atrophy, Retinal degeneration |
OMIM:252650 |
| Meckel Syndrome 13 |
|
Retinopathy, Polycystic kidney dysplasia |
OMIM:617562 |
| Estrogen Resistance |
|
Delayed puberty, Increased circulating osteocalcin level, Hyperinsulinemia, Breast aplasia, Incre... |
OMIM:615363 |
| Lead Poisoning |
|
Decreased HDL cholesterol concentration, Decreased male libido, Increased LDL cholesterol concent... |
ORPHA:330015 |
| Fanconi Renotubular Syndrome 3 |
|
Low-molecular-weight proteinuria, Glycosuria, Hyperphosphaturia, Elevated circulating creatinine ... |
OMIM:615605 |
| Renal Cysts And Diabetes Syndrome |
|
Abnormality of the kidney, Elevated circulating creatinine concentration, Hypospadias, Unilateral... |
OMIM:137920 |
| Caudal Duplication |
|
Uterus didelphys, Abnormal penis morphology, Cryptorchidism |
ORPHA:1756 |
| Pituitary Dermoid And Epidermoid Cysts |
|
Enlarged pituitary gland, Amenorrhea, Anterior hypopituitarism, Oligozoospermia, Panhypopituitari... |
ORPHA:91351 |
| Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Renal cyst, Retinal degeneration, Cryptorchidism, Rod-cone dystrophy, Horseshoe kidney |
ORPHA:166035 |
| Igg4-Related Retroperitoneal Fibrosis |
|
Acute kidney injury, Renal tubular epithelial necrosis, Retrograde ejaculation, Hematuria, Elevat... |
ORPHA:49041 |
| Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Proximal tubulopathy, Aminoaciduria |
OMIM:612075 |
| Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Cystic renal dysplasia, Cryptorchidism, Ectopic kidney, Optic disc pallor |
OMIM:613730 |
| Late-Onset Retinal Degeneration |
|
Drusen, Choroidal neovascularization, Patchy atrophy of the retinal pigment epithelium, Macular d... |
ORPHA:67042 |
| Poretti-Boltshauser Syndrome |
|
Retinal thinning, Retinal atrophy, Retinal dystrophy |
OMIM:615960 |
| Retinitis Pigmentosa 97 |
|
Macular degeneration, Rod-cone dystrophy |
OMIM:620422 |
| Alg6-Cdg |
|
Decreased LDL cholesterol concentration, Hypoalbuminemia, Retinal degeneration, Rod-cone dystrophy |
ORPHA:79320 |
| Cryoglobulinemia, Familial Mixed |
|
Hematuria, Abnormal renal physiology, Proteinuria, Chronic kidney disease, Elevated circulating c... |
OMIM:123550 |
| Ciliary Dyskinesia, Primary, 34 |
|
Absent central microtubular pair morphology of respiratory motile cilia, Male infertility, Immoti... |
OMIM:617091 |
| Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Hypoplasia of the uterus, Bicornuate uterus, Azoospermia |
OMIM:601076 |
| Cone-Rod Dystrophy And Hearing Loss 1 |
|
Macular degeneration, Retinal atrophy |
OMIM:617236 |
| Sjogren-Larsson Syndrome |
|
Macular dots, Retinal thinning, Macular degeneration, Macular crystals, Retinal pigment epithelia... |
OMIM:270200 |
| Joubert Syndrome 4 |
|
Abnormal renal medulla morphology, Stage 5 chronic kidney disease, Nephronophthisis, Renal insuff... |
OMIM:609583 |
| Dent Disease 1 |
|
Low-molecular-weight proteinuria, Renal phosphate wasting, Hypercalciuria, Proximal tubulopathy, ... |
OMIM:300009 |
| Satoyoshi Syndrome |
|
Hypoplasia of the ovary, Abnormality of the ovary, Nephrogenic diabetes insipidus, Abnormality of... |
ORPHA:3130 |
| Coach Syndrome 3 |
|
Nephronophthisis, Renal interstitial inflammation, Renal tubular atrophy, Renal interstitial fibr... |
OMIM:619113 |
| Joubert Syndrome 7 |
|
Stage 5 chronic kidney disease, Nephronophthisis, Renal cyst, Retinal dystrophy |
OMIM:611560 |
| Cone-Rod Dystrophy 2 |
|
Bone spicule pigmentation of the retina, Chorioretinal atrophy, Cone/cone-rod dystrophy, Retinal ... |
OMIM:120970 |
| Retinal Cone Dystrophy 3B |
|
Cone/cone-rod dystrophy, Macular atrophy |
OMIM:610356 |
| Müllerian Duct Anomalies-Limb Anomalies Syndrome |
|
Uterus didelphys, Hypothyroidism, Hypoplasia of penis |
ORPHA:2491 |
| Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Hematuria, Distal renal tubular acidosis, Chronic kidney disease, Aplasia of the vagina, Unilater... |
OMIM:146255 |
| Retinal Dystrophy And Iris Coloboma With Or Without Cataract |
|
Retinal atrophy |
OMIM:616722 |
| Hereditary Breast And/Or Ovarian Cancer Syndrome |
|
Prostate cancer, Neoplasm of the pancreas, Ovarian neoplasm, Abnormal fallopian tube morphology |
ORPHA:145 |
| Vitreoretinopathy, Neovascular Inflammatory |
|
Posterior retinal neovascularization, Peripheral retinal neovascularization, Retinal detachment, ... |
OMIM:193235 |
| Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Bone spicule pigmentation of the retina, Photoreceptor layer loss on macular OCT, Retinal atrophy... |
OMIM:616959 |
| Coach Syndrome 1 |
|
Nephronophthisis, Unilateral renal agenesis, Renal cyst, Stage 5 chronic kidney disease, Optic di... |
OMIM:216360 |
| Fryns Microphthalmia Syndrome |
|
Unicornuate uterus |
OMIM:600776 |
| Joubert Syndrome 3 |
|
Retinal dystrophy, Stage 5 chronic kidney disease, Nephronophthisis, Pigmentary retinopathy |
OMIM:608629 |
| Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Male infertility |
OMIM:300991 |
| Fanconi Renotubular Syndrome 2 |
|
Decreased glomerular filtration rate, Renal phosphate wasting, Generalized aminoaciduria, Hyperca... |
OMIM:613388 |
| Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Renal cyst, Retinal degeneration, Rod-cone dystrophy, Horseshoe kidney, Hypoautofluorescent retin... |
OMIM:250410 |
| Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type) |
|
Optic atrophy, Retinal degeneration, Hyperalaninemia |
OMIM:616896 |
| Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Increased circulating androstenedione concentration, Clitoral hypertrophy, Precocious puberty in ... |
OMIM:202010 |
| Renal And Mullerian Duct Hypoplasia |
|
Aplasia of the uterus, Anteriorly displaced urethral meatus, Hydrocele testis |
OMIM:266810 |
| Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Glomerulopathy, Nephropathy, Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria,... |
OMIM:254900 |
| Exudative Vitreoretinopathy 1 |
|
Posterior vitreous detachment, Retinal exudate, Retinal detachment, Vitreous floaters, Ectopic fo... |
OMIM:133780 |
| Combined Oxidative Phosphorylation Deficiency 59 |
|
Retinal degeneration, Dicarboxylic aciduria, Hyperalaninemia |
OMIM:620646 |
| Galloway-Mowat Syndrome 9 |
|
Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis |
OMIM:619603 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Optic atrophy, Unilateral renal agenesis, Proximal tubulopathy, Elevated circulating creatine kin... |
OMIM:614576 |
| Amed Syndrome, Digenic |
|
Attention deficit hyperactivity disorder, Adrenal hypoplasia, Hypoplasia of the uterus |
OMIM:619151 |
| Alagille Syndrome 1 |
|
Hypertriglyceridemia, Duplicated collecting system, Renal tubular acidosis, Chorioretinal atrophy... |
OMIM:118450 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Low-molecular-weight proteinuria, Hypophosphatemic rickets, Renal phosphate wasting, Hypercalciur... |
OMIM:300554 |
| Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Glomerular sclerosis, Aplasia of the bladder, Elevated circulating creatine kinase concentration,... |
ORPHA:158684 |
| Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Macular coloboma, Geographic atrophy, Abnormal auditory evoked potentials, Attenuation of retinal... |
OMIM:619260 |
| Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy |
|
Abnormal magnesium concentration, Hypokalemia, Proximal tubulopathy, Increased serum prostaglandi... |
OMIM:241150 |
| Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:618948 |
| Aceruloplasminemia |
|
Aceruloplasminemia, Retinal degeneration, Increased circulating ferritin concentration, Decreased... |
OMIM:604290 |
| 46,Xx Gonadal Dysgenesis |
|
Delayed puberty, Gonadal dysgenesis, Premature ovarian insufficiency, Secondary amenorrhea, Aplas... |
ORPHA:243 |
| Tyrosinemia, Type I |
|
Elevated urinary delta-aminolevulinic acid, Enlarged kidney, Hypophosphatemic rickets, Glomerular... |
OMIM:276700 |
| Renal Tubular Acidosis, Proximal |
|
Hypercalciuria, Elevated circulating creatinine concentration, Proximal renal tubular acidosis |
OMIM:179830 |
| Hypobetalipoproteinemia, Familial, 1 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypocholesterolemia, Decreased LDL... |
OMIM:615558 |
| Generalized Glucocorticoid Resistance Syndrome |
|
Abnormal circulating testosterone concentration, Increased urinary cortisol level, Oligozoospermi... |
ORPHA:786 |
| Seckel Syndrome 7 |
|
Central hypothyroidism, Hypoplasia of the uterus, Primary amenorrhea |
OMIM:614851 |
| Kallmann Syndrome With Spastic Paraplegia |
|
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... |
OMIM:308750 |
| Testicular Germ Cell Tumor |
|
Azoospermia |
OMIM:273300 |
| Galloway-Mowat Syndrome 1 |
|
Optic atrophy, Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Hypoalbuminem... |
OMIM:251300 |
| Ciliary Dyskinesia, Primary, 40 |
|
Absent outer dynein arms, Infertility, Azoospermia |
OMIM:618300 |
| Fanconi-Bickel Syndrome |
|
Increased serum bile acid concentration, Generalized aminoaciduria, Renal tubular dysfunction, Hy... |
OMIM:227810 |
| 46,Xx Sex Reversal 4 |
|
Gonadal dysgenesis, Clitoral hypertrophy, Retractile testis, Penoscrotal hypospadias, Ovotestis, ... |
OMIM:617480 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Enlarged kidney, Tubulointerstitial fibrosis, Polycystic kidney dysplasia, Pancreatic cysts, Rena... |
OMIM:263200 |
| Jalili Syndrome |
|
Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy, Attenuation of retinal blood ve... |
OMIM:217080 |
| Mitochondrial Dna Depletion Syndrome 20 (Mngie Type) |
|
Macular degeneration, Neurogenic bladder |
OMIM:619780 |
| Lumbar Syndrome |
|
Hypospadias, Bifid scrotum, Bifid uterus, Ambiguous genitalia, Cryptorchidism, Micropenis, Hypopl... |
ORPHA:83628 |
| Schimke Immuno-Osseous Dysplasia |
|
Minimal change glomerulonephritis, Nephrotic range proteinuria, Hyperlipidemia, Focal segmental g... |
ORPHA:1830 |
| Nephronophthisis 16 |
|
Enlarged kidney, Nephronophthisis, Polycystic kidney dysplasia, Stage 5 chronic kidney disease, R... |
OMIM:615382 |
| Sjögren-Larsson Syndrome |
|
Retinopathy, Macular degeneration, Abnormality of retinal pigmentation |
ORPHA:816 |
| Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Hypophosphatemic rickets, Renal phosphate wasting, Hypercalciuria, Calcium nephrolithiasis, Hypop... |
OMIM:241530 |
| Müllerian Aplasia And Hyperandrogenism |
|
Increased serum testosterone level, Abnormal vagina morphology, Abnormality of the ovary, Primary... |
ORPHA:247768 |
| Galloway-Mowat Syndrome 3 |
|
Glomerular sclerosis, Nephrotic syndrome, Diffuse mesangial sclerosis, Proteinuria, Hypoalbuminem... |
OMIM:617729 |
| Nephrotic Syndrome, Type 8 |
|
Thin glomerular basement membrane, Nephrotic syndrome, Proteinuria, Chronic kidney disease, Hypoa... |
OMIM:615244 |
| Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Ectopic kidney, Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis, Multicystic kidney dyspl... |
OMIM:618270 |
| Melas |
|
Optic atrophy, Proximal tubulopathy, Focal segmental glomerulosclerosis, Proteinuria, Nephropathy... |
ORPHA:550 |
| Fanconi Renotubular Syndrome 5 |
|
Hypophosphatemic rickets, Tubulointerstitial fibrosis, Glycosuria, Proteinuria, Hypophosphatemia,... |
OMIM:618913 |
| Acute Zonal Occult Outer Retinopathy |
|
Vitritis, Marcus Gunn pupil, Pigmentary retinopathy, Abnormal fundus fluorescein angiography, Mac... |
ORPHA:284454 |
| Renal Hypodysplasia/Aplasia 1 |
|
Bicornuate uterus, Vaginal atresia, Primary amenorrhea |
OMIM:191830 |
| Estrogen Resistance Syndrome |
|
Absence of secondary sex characteristics, Breast hypoplasia, Hyperinsulinemia, Abnormal circulati... |
ORPHA:785 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Retinopathy, Optic atrophy, Macular atrophy, Optic disc pallor |
OMIM:616171 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Abnormality of the male genitalia, Hyperbilirubinemia, Elevated circulating long chain fatty acid... |
OMIM:614886 |
| Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
|
Retinal atrophy, Elevated circulating creatine kinase concentration, Retinal dystrophy |
ORPHA:370022 |
| Juvenile Nephropathic Cystinosis |
|
Low-molecular-weight proteinuria, Elevated circulating creatinine concentration, Renal phosphate ... |
ORPHA:411634 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Pancreatic cysts, Renal cyst, Nephritis, Proteinuria, Conjugated hyperbilirubinemia, Chronic kidn... |
OMIM:208500 |
| Schimke Immunoosseous Dysplasia |
|
Focal segmental glomerulosclerosis, Bilateral cryptorchidism, Nephrotic syndrome, Proteinuria, St... |
OMIM:242900 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Renal tubular epithelial necrosis, Decreased glomerular filtration rate, Cystoid macular edema, C... |
ORPHA:91500 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Polycystic kidney dysplasia, ... |
OMIM:231680 |
| Satoyoshi Syndrome |
|
Amenorrhea, Hypoplasia of the uterus |
OMIM:600705 |
| Combined Oxidative Phosphorylation Deficiency 34 |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Hypergonadotropic h... |
OMIM:617872 |
| Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome |
|
Macular degeneration, Cryptorchidism, Choroidal neovascularization |
ORPHA:404451 |
| Retinitis Pigmentosa |
|
Optic atrophy, Bone spicule pigmentation of the retina, Abnormal testis morphology, Attenuation o... |
ORPHA:791 |
| Ceroid Lipofuscinosis, Neuronal, 10 |
|
Retinal atrophy, Rod-cone dystrophy |
OMIM:610127 |
| Congenital Megacalycosis |
|
Enlarged kidney, Hematuria, Dilatation of renal calices, Recurrent urinary tract infections, Neph... |
ORPHA:93109 |
| Ciliary Dyskinesia, Primary, 18 |
|
Absent outer dynein arms, Male infertility, Immotile sperm, Absent inner dynein arms |
OMIM:614874 |
| Omodysplasia 2 |
|
Hypospadias, Labial hypoplasia, Dyspareunia, Clitoral hypoplasia, Uterus didelphys, Cryptorchidis... |
OMIM:164745 |
| Juvenile Neuronal Ceroid Lipofuscinosis |
|
Retinal degeneration, Optic disc pallor, Pigmentary retinopathy |
ORPHA:79264 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Premature ovarian insufficiency, Proximal tubulopathy, Renal cyst, Hypergonadotropic hypogonadism... |
OMIM:212065 |
| Donnai-Barrow Syndrome |
|
Retinal dystrophy, Retinal detachment, Bicornuate uterus, Non-acidotic proximal tubulopathy, Prot... |
OMIM:222448 |
| Hypomagnesemia 3, Renal |
|
Nephrocalcinosis, Macroscopic hematuria, Elevated circulating creatinine concentration, Stage 5 c... |
OMIM:248250 |
| Bardet-Biedl Syndrome 1 |
|
Abnormality of the kidney, Bone spicule pigmentation of the retina, Aganglionic megacolon, Retina... |
OMIM:209900 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Optic atrophy, Macular coloboma, Glomerulopathy, Methylmalonic acidemia, Hemolytic-uremic syndrom... |
ORPHA:79282 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Enlarged kidney, Ureteral duplication, Long-chain dicarboxylic aciduria, Polycystic kidney dyspla... |
OMIM:608836 |
| 46,Xy Sex Reversal 10 |
|
Gonadal dysgenesis, Ovotestis, Hypospadias, Perineal hypospadias, Bifid scrotum, Decreased testic... |
OMIM:616425 |
| Cystinosis, Nephropathic |
|
Generalized aminoaciduria, Retinopathy, Hypophosphatemia, Stage 5 chronic kidney disease, Reduced... |
OMIM:219800 |
| Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Reduced blood urea nitrogen, Hyposthenuria, Decreased circulating renin level, Decreased serum cr... |
OMIM:300539 |
| Bardet-Biedl Syndrome 12 |
|
Hydrometrocolpos, Hydroureter, Hydronephrosis, Hypogonadism, Vaginal atresia, Rod-cone dystrophy,... |
OMIM:615989 |
| Hepatorenocardiac Degenerative Fibrosis |
|
Enlarged kidney, Tubular luminal dilatation, Renal interstitial fibrosis, Renal cyst, Hyperechoge... |
OMIM:619902 |
| Congenital Disorder Of Glycosylation, Type Ib |
|
Hypoalbuminemia, Proximal tubulopathy, Renal cyst |
OMIM:602579 |
| Hypotrichosis With Juvenile Macular Degeneration |
|
Abnormality of macular pigmentation, Macular degeneration |
ORPHA:1573 |
| Cystinosis, Adult Nonnephropathic |
|
Elevated circulating creatinine concentration, Abnormal retinal morphology |
OMIM:219750 |
| Relapsing Fever |
|
Acute kidney injury, Hematuria, Elevated circulating C-reactive protein concentration, Increased ... |
ORPHA:91547 |
| Classic Galactosemia |
|
Delayed puberty, Premature ovarian insufficiency, Male infertility, Secondary amenorrhea, Depress... |
ORPHA:79239 |
| Prune Belly Syndrome |
|
Urogenital sinus anomaly, Cognitive impairment, Decreased testicular size, Abnormality of the ute... |
ORPHA:2970 |
| Hemochromatosis, Type 1 |
|
Azoospermia, Impotence, Hypogonadotropic hypogonadism, Amenorrhea, Diabetes mellitus, Testicular ... |
OMIM:235200 |
| Rhyns Syndrome |
|
Nephronophthisis, Rod-cone dystrophy, Chronic kidney disease, Renal insufficiency |
OMIM:602152 |
| Combined Oxidative Phosphorylation Deficiency 55 |
|
Stage 3 chronic kidney disease, Hypophosphatemic rickets, Proximal tubulopathy, Organic aciduria,... |
OMIM:619743 |
| Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Increased total bilirubin, Renal cyst |
OMIM:174050 |
| Neuromuscular Oculoauditory Syndrome |
|
Decreased nerve conduction velocity, Elevated circulating creatine kinase concentration, Decrease... |
OMIM:618733 |
| Kearns-Sayre Syndrome |
|
Renal Fanconi syndrome, Pigmentary retinopathy, Renal tubular acidosis |
OMIM:530000 |
| Donnai-Barrow Syndrome |
|
Bicornuate uterus, Abnormality of the uterus |
ORPHA:2143 |
| Ciliary Dyskinesia, Primary, 9 |
|
Absent outer dynein arms, Male infertility |
OMIM:612444 |
| Woodhouse-Sakati Syndrome |
|
Delayed puberty, Decreased response to growth hormone stimulation test, Hypoplasia of the uterus,... |
ORPHA:3464 |
| Ocular Motor Apraxia |
|
Nephronophthisis |
OMIM:257550 |
| Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Rod-cone dystrophy, Macular atrophy, Optic disc pallor |
OMIM:615434 |
| 46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Delayed puberty, Ambiguous genitalia, male, Clitoral hypertrophy, Absence of secondary sex charac... |
ORPHA:168558 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Delayed puberty, Ambiguous genitalia, male, Clitoral hypertrophy, Absence of secondary sex charac... |
ORPHA:289548 |
| Leigh Syndrome |
|
Optic atrophy, 3-Methylglutaconic aciduria, Generalized aminoaciduria, Renal tubular acidosis, La... |
ORPHA:506 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Acute kidney injury, Hemolytic-uremic syndrome, Anuria, Hyperlipidemia, Increased blood urea nitr... |
OMIM:235400 |
| Bietti Crystalline Corneoretinal Dystrophy |
|
Chorioretinal atrophy, Retinal degeneration |
OMIM:210370 |
| Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Absent vas deferens, Acute kidney injury, Glomerulopathy, Hypospadias, Renal insufficiency, Hyper... |
ORPHA:93111 |
| Mucolipidosis Iii Alpha/Beta |
|
Retinopathy, Retinal degeneration, Increased serum beta-hexosaminidase, Mucopolysacchariduria |
OMIM:252600 |
| Myotonic Dystrophy 2 |
|
Type II diabetes mellitus, Oligozoospermia, Elevated circulating follicle stimulating hormone lev... |
OMIM:602668 |
| Popliteal Pterygium Syndrome |
|
Bifid scrotum, Hypoplasia of the vagina, Dementia, Small scrotum, Cryptorchidism, Hypoplasia of t... |
OMIM:119500 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Hemolytic-uremic syndrome, Microscopic hematuria, Increased blood urea nitrogen, Abnormal renal p... |
OMIM:274150 |
| Developmental And Epileptic Encephalopathy 28 |
|
Optic atrophy, Retinal degeneration |
OMIM:616211 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Ambiguous genitalia, male, Clitoral hypertrophy, Increased circulating androstenedione concentrat... |
ORPHA:90791 |
| Ciliary Dyskinesia, Primary, 14 |
|
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Reduced sperm motil... |
OMIM:613807 |
| Pseudoxanthoma Elasticum |
|
Retinal peau d'orange, Choroidal neovascularization, Angioid streaks of the fundus, Optic disc dr... |
OMIM:264800 |
| Retinitis Pigmentosa 37 |
|
Cystoid macular degeneration, Rod-cone dystrophy, Pigmentary retinopathy |
OMIM:611131 |
| Isolated Permanent Neonatal Diabetes Mellitus |
|
Abnormality of the upper urinary tract, Retinopathy, Glycosuria, Moderate albuminuria, Ketonuria,... |
ORPHA:99885 |
| Multiple Sulfatase Deficiency |
|
Mucopolysacchariduria, Retinal degeneration |
OMIM:272200 |
| Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypermagnesemia, Hypocalciuria, Parathormone-independent increased renal tubular calcium reabsorp... |
OMIM:600740 |
| Glycogen Storage Disease Ic |
|
Hematuria, Decreased glomerular filtration rate, Hyperuricemia, Hyperlipidemia, Focal segmental g... |
OMIM:232240 |
| Coats Disease |
|
Retinal telangiectasia, Exudative retinal detachment |
OMIM:300216 |
| Non-Specific Early-Onset Epileptic Encephalopathy |
|
Optic atrophy, Retinal degeneration |
ORPHA:442835 |
| Renal Dysplasia |
|
Enlarged kidney, Urinary incontinence, Renal hypoplasia/aplasia, Abnormal nephron morphology, Ure... |
ORPHA:93108 |
| Alport Syndrome 3A, Autosomal Dominant |
|
Hematuria, Azotemia, Nephrotic syndrome, Microscopic hematuria, Thickened glomerular basement mem... |
OMIM:104200 |
| Aceruloplasminemia |
|
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Ma... |
ORPHA:48818 |
| Microcephaly 20, Primary, Autosomal Recessive |
|
Attention deficit hyperactivity disorder, Hypoplasia of the uterus, Vaginal atresia |
OMIM:617914 |
| Distal Renal Tubular Acidosis |
|
Low-molecular-weight proteinuria, Hypocitraturia, Decreased glomerular filtration rate, Hypokalem... |
ORPHA:18 |
| Isolated Complex I Deficiency |
|
Proximal tubulopathy, Increased serum pyruvate, Optic disc pallor, Optic neuropathy |
ORPHA:2609 |
| Genitopalatocardiac Syndrome |
|
Hypospadias, Renal cyst, Gonadal dysgenesis, male |
OMIM:231060 |
| Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Endometriosis, Aplasia of the uterus, Ectopic ovary, Dyspareunia, Hypoplasia of the vagina, Prima... |
ORPHA:3109 |
| Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Retinal detachment, Macular atrophy, Chorioretinal coloboma, Retinal dystrophy |
OMIM:212550 |
| Diffuse Alveolar Hemorrhage |
|
Elevated circulating creatinine concentration, Hematuria, Proteinuria |
ORPHA:90060 |
| Townes-Brocks Syndrome 2 |
|
Bifid uterus, Hypospadias, Rectovaginal fistula |
OMIM:617466 |
| Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Myoglobinuria, Elevated circulating creatinine concentration, Elevated circulating creatine kinas... |
OMIM:620138 |
| Werner Syndrome |
|
Hypertriglyceridemia, Retinal degeneration, Elevated hemoglobin A1c, Hypogonadism |
OMIM:277700 |
| Woodhouse-Sakati Syndrome |
|
Elevated circulating thyroid-stimulating hormone concentration, Premature ovarian insufficiency, ... |
OMIM:241080 |
| Lethal Omphalocele-Cleft Palate Syndrome |
|
Bifid uterus |
ORPHA:2736 |
| Cone-Rod Dystrophy 6 |
|
Bone spicule pigmentation of the retina, Chorioretinal atrophy, Cone/cone-rod dystrophy, Attenuat... |
OMIM:601777 |
| Leber Congenital Amaurosis 15 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Peripapillary atrophy, Retinal degenerat... |
OMIM:613843 |
| Hypophosphatemic Rickets, X-Linked Dominant |
|
Hypophosphatemic rickets, Renal phosphate wasting, Abnormal circulating calcium concentration, Hy... |
OMIM:307800 |
| Fanconi Anemia, Complementation Group O |
|
External genital hypoplasia, Renal cyst, Hydronephrosis, Stage 5 chronic kidney disease, Cryptorc... |
OMIM:613390 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Acute kidney injury, Elevated circulating creatinine concentration, Hyperbilirubinemia, Decreased... |
ORPHA:542323 |
| Mccune-Albright Syndrome |
|
Decreased fertility, Renal phosphate wasting, Abnormal testis morphology, Precocious puberty, Hyp... |
ORPHA:562 |
| Nephronophthisis 19 |
|
Renal interstitial fibrosis, Stage 5 chronic kidney disease, Nephronophthisis, Hyperechogenic kid... |
OMIM:616217 |
| Igg4-Related Kidney Disease |
|
Acute kidney injury, Enlarged kidney, Prostatitis, Urethritis, Hematuria, Elevated circulating C-... |
ORPHA:449395 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Retinal degeneration, Elevated circulating creatine kinase concentration |
OMIM:615249 |
| Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Hypocalcemic seizures, Unilateral renal agenesis, Renal insufficiency, Hypocalcemia, Polycystic k... |
ORPHA:2237 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Retrograde ejaculation, Orthostatic hypotension, Elevated urinary dopamine level, Increased blood... |
ORPHA:230 |
| Ethylene Glycol Poisoning |
|
Hyperkalemia, Renal tubular epithelial necrosis, Hematuria, Decreased urine output, Hypocalcemia,... |
ORPHA:31826 |
| Cockayne Syndrome Type 3 |
|
Abnormality of peripheral nerve conduction, Hydroureter, Unilateral renal agenesis, Retinal dystr... |
ORPHA:90324 |
| Renal Hypoplasia, Bilateral |
|
Hyperkalemia, Decreased glomerular filtration rate, Vesicoureteral reflux, Beta 2-microglobulinur... |
ORPHA:97362 |
| Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature |
|
Hemolytic-uremic syndrome, Reduced haptoglobin level, Hyperechogenic kidneys, Proteinuria, Modera... |
OMIM:301110 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hypogonadism, Azoospermia |
OMIM:615234 |
| Intellectual Developmental Disorder, X-Linked 112 |
|
Ectopic kidney, Hypospadias, Horseshoe kidney, Enuresis nocturna, Vesicoureteral reflux, Enuresis... |
OMIM:301111 |
| Knobloch Syndrome |
|
Abnormal vitreous humor morphology, Retinal detachment, Macular degeneration, Vitreoretinopathy, ... |
ORPHA:1571 |
| Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Delayed puberty, Absence of secondary sex characteristics, Breast hypoplasia, Increased circulati... |
ORPHA:2232 |
| Interstitial Pneumonitis, Desquamative, Familial |
|
Tubulointerstitial fibrosis |
OMIM:263000 |
| Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Infertility, Retinal atrophy, Delayed menarche, Oligomenorrhea, Hypogonadism |
ORPHA:412057 |
| Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Premature ovarian insufficiency, Female infertility, Amenorrhea, Increased circulating gonadotrop... |
OMIM:110100 |
| Peroxisome Biogenesis Disorder 1B |
|
Optic atrophy, Hyperoxaluria, Rod-cone dystrophy, Renal cyst |
OMIM:601539 |
| Cockayne Syndrome |
|
Optic atrophy, Urinary incontinence, Decreased nerve conduction velocity, Unilateral renal agenes... |
ORPHA:191 |
| Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Male infertility, Parathyroid agenesis, Congenital hypoparathyroidism |
ORPHA:2239 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Increased circulating androstenedione concentration, Clitoral hypertrophy, Abnormal ovarian physi... |
ORPHA:90794 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Testicular atrophy |
OMIM:601163 |
| Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:619607 |
| Joubert Syndrome 2 |
|
Nephronophthisis, Retinal dystrophy, Hypoplastic male external genitalia, Renal cyst, Chorioretin... |
OMIM:608091 |
| Mody |
|
Abnormality of the kidney, Abnormal circulating C-peptide concentration, Renal cyst, Retinopathy,... |
ORPHA:552 |
| Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Decreased serum creatinine, Hypocystinemia, Hypohomocysteinemia |
OMIM:617744 |
| Acromesomelic Dysplasia 3 |
|
Hypergonadotropic hypogonadism, Elevated circulating follicle stimulating hormone level, Elevated... |
OMIM:609441 |
| Ehlers-Danlos Syndrome, Classic-Like, 1 |
|
Bicornuate uterus, Ambiguous genitalia, female |
OMIM:606408 |
| Aromatase Deficiency |
|
Male infertility, Macroorchidism, postpubertal, Enlarged polycystic ovaries, Hypergonadotropic hy... |
ORPHA:91 |
| Choroidal Atrophy-Alopecia Syndrome |
|
Abnormality of retinal pigmentation, Patchy atrophy of the retinal pigment epithelium |
ORPHA:1433 |
| Myotonic Dystrophy 1 |
|
Cholelithiasis, Testicular atrophy, Hypogonadism |
OMIM:160900 |
| Gitelman Syndrome |
|
Hypermagnesemia, Urinary incontinence, Hypokalemia, Renal tubular acidosis, Renal potassium wasti... |
ORPHA:358 |
| Hand-Foot-Genital Syndrome |
|
Hypospadias, Longitudinal vaginal septum, Bifid scrotum, Uterus didelphys, Chordee, Micropenis |
OMIM:140000 |
| Gracile Syndrome |
|
Decreased transferrin saturation, Increased circulating ferritin concentration, Renal Fanconi syn... |
ORPHA:53693 |
| Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Abnormal cranial nerve morphology, Macular degeneration, Urinary incontinence, Abnormal autonomic... |
ORPHA:247234 |
| Teebi Hypertelorism Syndrome 1 |
|
Shawl scrotum, Bicornuate uterus, Hydrocele testis |
OMIM:145420 |
| Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Hypercalciuria, Nephrocalcinosis, Hypercalcemia, Renal tubular acidosis |
OMIM:239199 |
| Axial Spondylometaphyseal Dysplasia |
|
Optic atrophy, Retinal dystrophy, Rod-cone dystrophy, Peripheral retinal degeneration |
ORPHA:168549 |
| Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Retinal degeneration |
ORPHA:542306 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Renal tubular acidosis, Nephrocalcinosis, Renal tubular atrophy, Conjugated hyperbilirubinemia, R... |
OMIM:208085 |
| Galloway-Mowat Syndrome 10 |
|
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Proteinuria, Podocyte foot process e... |
OMIM:619609 |
| Ciliary Dyskinesia, Primary, 19 |
|
Absent inner and outer dynein arms, Male infertility |
OMIM:614935 |
| Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay |
|
Ectopic kidney, Unilateral renal agenesis, Renal insufficiency, Horseshoe kidney, Vesicoureteral ... |
OMIM:617641 |
| Duplication Of Urethra |
|
Epispadias, Clitoral hypertrophy, Penile hypospadias, Hypospadias, Bifid scrotum, Uterus didelphy... |
ORPHA:237 |
| Meckel Syndrome 12 |
|
Hypoplasia of the uterus, Vaginal atresia |
OMIM:616258 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Optic atrophy, Retinal dysplasia, Retinal detachment, Optic nerve hypoplasia, Hypoplastic male ex... |
OMIM:236670 |
| Pierson Syndrome |
|
Retinal detachment, Hypoproteinemia, Remnants of the hyaloid vascular system, Retinal hemorrhage,... |
OMIM:609049 |
| Scheie Syndrome |
|
Retinal degeneration |
OMIM:607016 |
| 45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Delayed puberty, Ambiguous genitalia, male, Bifid scrotum, Cervix cancer, Hypospadias, Azoospermi... |
ORPHA:1772 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Optic atrophy, Distal renal tubular acidosis, Renal tubular acidosis, Hypocalcemia, Retinal atrop... |
ORPHA:2785 |
| Adult-Onset Autosomal Recessive Cerebellar Ataxia |
|
Macular degeneration |
ORPHA:284289 |
| Wilson Disease |
|
Increased urinary copper concentration, Decreased nerve conduction velocity, Decreased circulatin... |
OMIM:277900 |
| Hemorrhagic Fever-Renal Syndrome |
|
Hyperkalemia, Acute kidney injury, Hematuria, Decreased glomerular filtration rate, Acute tubuloi... |
ORPHA:340 |
| Hurler Syndrome |
|
Retinal degeneration, Urinary glycosaminoglycan excretion, Heparan sulfate excretion in urine, De... |
OMIM:607014 |
| Gapo Syndrome |
|
Amenorrhea, Dysmenorrhea, Oligozoospermia, Hypogonadism |
ORPHA:2067 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Hypoalbuminemia, Elevated circulating creatinine concentration, Cryptorchidism |
OMIM:608104 |
| Gillessen-Kaesbach-Nishimura Syndrome |
|
Bicornuate uterus |
OMIM:263210 |
| Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Decreased glomerular filtration rate, Polycystic kidney dysplasia, Hepatic cysts, Stage 5 chronic... |
OMIM:618061 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Elevated circulating creatinine concentration, Renal insufficiency, Renal cyst |
OMIM:617478 |
| Renal Tubular Acidosis, Distal, 2, With Progressive Sensorineural Hearing Loss |
|
Nephrolithiasis, Renal tubular acidosis |
OMIM:267300 |
| Bacterial Toxic-Shock Syndrome |
|
Hypocalcemia, Recurrent urinary tract infections, Elevated circulating creatine kinase concentrat... |
ORPHA:36234 |
| Congenital Disorder Of Glycosylation, Type Iit |
|
Decreased serum creatinine, Decreased HDL cholesterol concentration, Urinary incontinence, Hypotr... |
OMIM:618885 |
| Alagille Syndrome 2 |
|
Hematuria, Renal tubular acidosis, Renal cyst, Renal hypoplasia, Proteinuria, Renal insufficiency |
OMIM:610205 |
| Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Decreased glomerular filtration rate, Focal segmental glomerulosclerosis, Nephrotic syndrome, Ren... |
OMIM:614748 |
| Bone Marrow Failure Syndrome 5 |
|
Testicular atrophy, Hypogonadism |
OMIM:618165 |
| Multiple Myeloma |
|
Acute kidney injury, Abnormality of the bladder, Nephrotic syndrome, Hypercalcemia, Hyperproteine... |
ORPHA:29073 |
| Pantothenate Kinase-Associated Neurodegeneration |
|
Optic atrophy, Bull's eye maculopathy, Abetalipoproteinemia, Retinal degeneration, Retinal flecks... |
ORPHA:157850 |
| Hand-Foot-Genital Syndrome |
|
Bicornuate uterus, Hypospadias, Abnormality of the uterus |
ORPHA:2438 |
| Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Retinal degeneration |
ORPHA:168491 |
| Kniest Dysplasia |
|
Retinal detachment, Keratan sulfate excretion in urine, Vitreoretinopathy, Lattice retinal degene... |
ORPHA:485 |
| Oeis Complex |
|
Epispadias, Ambiguous genitalia, male, Rectovaginal fistula, Vesicovaginal fistula, Labial hypopl... |
OMIM:258040 |
| Macrophthalmia, Colobomatous, With Microcornea |
|
Macular atrophy, Chorioretinal coloboma, Optic disc coloboma |
OMIM:602499 |
| Andersen-Tawil Syndrome |
|
Renal hypoplasia, Renal tubular dysfunction |
ORPHA:37553 |
| Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Multicystic kidney dysplasia, Chorioretinal coloboma, Renal cyst |
ORPHA:2031 |
| Glycogen Storage Disease Iv |
|
Tubulointerstitial fibrosis, Abnormal circulating creatine kinase concentration |
OMIM:232500 |
| Pyruvate Dehydrogenase E2 Deficiency |
|
Retinal degeneration |
ORPHA:79244 |
| Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome |
|
Rod-cone dystrophy, Patchy atrophy of the retinal pigment epithelium |
ORPHA:436245 |
| Beta-Thalassemia Intermedia |
|
Elevated hepatic iron concentration, Proximal tubulopathy, Abnormality of iron homeostasis, Hypog... |
ORPHA:231222 |
| Cerebral Creatine Deficiency Syndrome 2 |
|
Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration |
OMIM:612736 |
| Zika Virus Disease |
|
Optic disc hypoplasia, Chorioretinal atrophy, Abnormal optic disc morphology, Absent foveal refle... |
ORPHA:448237 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Retinal thinning, Hypotriglyceridemia, Retinal atrophy, Cone/cone-rod dystrophy, Abnormality of r... |
ORPHA:85167 |
| Proximal Renal Tubular Acidosis |
|
Low-molecular-weight proteinuria, Bicarbonaturia, Global proximal tubulopathy, Hypokalemia, Hyper... |
ORPHA:47159 |
| Aarskog-Scott Syndrome |
|
Delayed puberty, Bilateral cryptorchidism, Elevated circulating follicle stimulating hormone leve... |
OMIM:305400 |
| Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Decreased fertility, Premature ovarian insufficiency, Lacrimal gland aplasia, Decreased circulati... |
ORPHA:572333 |
| Matthew-Wood Syndrome |
|
Annular pancreas, Cryptorchidism, Aplasia/Hypoplasia of the pancreas, Abnormality of the uterus |
ORPHA:2470 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Delayed puberty, Abnormal female external genitalia morphology, Abnormal ovarian morphology, Abno... |
ORPHA:95699 |
| Tuberous Sclerosis 2 |
|
Retinal hamartoma, Renal cell carcinoma, Renal cyst, Precocious puberty, Renal angiomyolipoma, Ac... |
OMIM:613254 |
| Beaulieu-Boycott-Innes Syndrome |
|
Premature ovarian insufficiency, Endometriosis |
OMIM:613680 |
| Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Testicular atrophy |
OMIM:613987 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Acute kidney injury, Hypokalemia, Anuria, Unconjugated hyperbilirubinemia, Hyponatremia, Hemoglob... |
ORPHA:90038 |
| Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Hypophosphatemic rickets, Glycosuria, Proteinuria, Abnormal circulating fatty-acid concentration,... |
ORPHA:263455 |
| Fructose Intolerance, Hereditary |
|
Bicarbonaturia, Hyperuricemia, Transient aminoaciduria, Hyperbilirubinemia, Proximal tubulopathy,... |
OMIM:229600 |
| Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay |
|
Glycosuria, Elevated hemoglobin A1c, Renal tubular dysfunction |
OMIM:616539 |
| Genitourinary And/Or Brain Malformation Syndrome |
|
Gonadal dysgenesis, Clitoral hypertrophy, Hypospadias, Urogenital sinus anomaly, Cryptorchidism, ... |
OMIM:618820 |
| Cockayne Syndrome A |
|
Optic atrophy, Decreased nerve conduction velocity, Irregular menstruation, Renal insufficiency, ... |
OMIM:216400 |
| Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Azoospermia, Abnormality of the hypothalamus-pituitary axis, Hypothyroidism, Hypogonadism, Adrena... |
ORPHA:300298 |
| Axial Osteomalacia |
|
Elevated circulating creatine kinase concentration, Renal cyst |
OMIM:109130 |
| Polycystic Liver Disease 4 With Or Without Kidney Cysts |
|
Hepatic cysts, Renal cyst |
OMIM:617875 |
| Polycystic Liver Disease 3 With Or Without Kidney Cysts |
|
Hepatic cysts, Renal cyst |
OMIM:617874 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Erectile dysfunction, Infertility, Decreased libido, Hypothyroidism, Diabetes mellitus, Amenorrhe... |
ORPHA:465508 |
| Joubert Syndrome 39 |
|
Polycystic kidney dysplasia, Retinal dystrophy |
OMIM:619562 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Increased serum pyruvate, Abnormal medullary pyramid morphology |
ORPHA:79243 |
| Mucopolysaccharidosis Type 3 |
|
Optic atrophy, Heparan sulfate excretion in urine, Mucopolysacchariduria, Retinal degeneration, R... |
ORPHA:581 |
| Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
|
Breast hypoplasia, Diabetes mellitus, Oligozoospermia, Clitoral hypoplasia |
OMIM:614813 |
| Carney Complex |
|
Ductal carcinoma in situ, Neoplasm of the pancreas, Pituitary growth hormone cell adenoma, Ovaria... |
ORPHA:1359 |
| Joubert Syndrome 1 |
|
Retinal dystrophy, Retinal dysplasia, Renal cyst, Chorioretinal coloboma, Optic disc coloboma, Ne... |
OMIM:213300 |
| Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Acute kidney injury, Ureteral duplication, Nephronophthisis, Retinal dystrophy, Macular degenerat... |
OMIM:266920 |
| Exstrophy-Epispadias Complex |
|
Penoscrotal transposition, Epispadias, Bifid penis, Bifid scrotum, Absent penis, Male sexual dysf... |
ORPHA:322 |
| Ogden Syndrome |
|
Enlarged kidney, Polycystic kidney dysplasia, Hyperbilirubinemia, Decreased testicular size, Glob... |
OMIM:300855 |
| Neurodegeneration With Brain Iron Accumulation 1 |
|
Optic atrophy, Retinal degeneration, Urinary incontinence, Pigmentary retinopathy |
OMIM:234200 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Premature ovarian insufficiency, Secondary amenorrhea, Depression, Hypergonadotropic hypogonadism... |
OMIM:157640 |
| Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Delayed puberty, Decreased response to growth hormone stimulation test, Hypoplasia of the uterus |
OMIM:615866 |
| Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Retinal thinning, Abnormality of macular pigmentation, Retinal atrophy, Cone/cone-rod dystrophy, ... |
OMIM:608940 |
| Pseudotrisomy 13 Syndrome |
|
Adrenal hypoplasia, Cryptorchidism, Micropenis, Bicornuate uterus |
OMIM:264480 |
| Mannosidosis, Alpha B, Lysosomal |
|
Retinal degeneration |
OMIM:248500 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hypertriglyceridemia, Enlarged kidney, Hyperuricemia, Tubulointerstitial fibrosis, Hyperlipidemia... |
ORPHA:79259 |
| 46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome |
|
Renal hypoplasia/aplasia, Hydroureter, Abnormal internal genitalia, Urogenital sinus anomaly, Fem... |
ORPHA:2973 |
| Ulnar-Mammary Syndrome |
|
Delayed puberty, Breast aplasia, Hypoplasia of penis, Hypoplastic nipples, Abnormality of the ute... |
ORPHA:3138 |
| Wolfram Syndrome 1 |
|
Hypothyroidism, Diabetes mellitus, Testicular atrophy, Diabetes insipidus |
OMIM:222300 |
| Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Bifid uterus, Abnormal reproductive system morphology, Supernumerary nipple |
ORPHA:1521 |
| Cornelia De Lange Syndrome 1 |
|
Optic atrophy, Hypospadias, Ectopic kidney, Abnormal renal morphology, Hypoplastic male external ... |
OMIM:122470 |
| Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Reduced renal corticomedullary differentiation |
OMIM:618541 |
| Acro-Renal-Mandibular Syndrome |
|
Uterus didelphys, Bicornuate uterus |
ORPHA:958 |
| Mandibuloacral Dysplasia Progeroid Syndrome |
|
Hypertriglyceridemia, Elevated hemoglobin A1c, Proteinuria, Focal segmental glomerulosclerosis |
OMIM:619127 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Clitoral hypertrophy, Hypospadias, Ovotestis, Chordee, Micropenis, Hypoplasia of the uterus |
OMIM:309801 |
| Trichothiodystrophy |
|
Macular degeneration, Retinal degeneration, Cryptorchidism, Gonadal dysgenesis |
ORPHA:33364 |
| Pseudoxanthoma Elasticum, Forme Fruste |
|
Macular degeneration, Angioid streaks of the fundus, Retinal hemorrhage |
OMIM:177850 |
| Odontochondrodysplasia 1 |
|
Polycystic kidney dysplasia, Nephronophthisis |
OMIM:184260 |
| Bloom Syndrome |
|
Premature ovarian insufficiency, Male infertility, Azoospermia, Oligozoospermia, Diabetes mellitus |
ORPHA:125 |
| Pseudo-Torch Syndrome 2 |
|
Abnormal renal corticomedullary differentiation |
OMIM:617397 |
| Microphthalmia, Syndromic 9 |
|
Cryptorchidism, Hypoplasia of the uterus, Bicornuate uterus |
OMIM:601186 |
| Cancer-Associated Retinopathy |
|
Optic atrophy, Granular macular appearance, Testicular neoplasm, Retinal atrophy, Optic disc pall... |
ORPHA:71505 |
| Tuberous Sclerosis 1 |
|
Renal cell carcinoma, Renal cyst, Precocious puberty, Achromatic retinal patches, Renal angiomyol... |
OMIM:191100 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Abnormal fallopian tube morphology, Pancreatic lymphangiectasis, Abnormality of the uterus, Vagin... |
ORPHA:1655 |
| Gapo Syndrome |
|
Optic atrophy, Facial palsy, Retinal arteriolar tortuosity, Tubulointerstitial fibrosis |
OMIM:230740 |
| Autosomal Recessive Spastic Paraplegia Type 11 |
|
Retinal degeneration, Orthostatic hypotension |
ORPHA:2822 |
| Cerebellar, Ocular, Craniofacial, And Genital Syndrome |
|
Retinal degeneration, Absent scrotum |
OMIM:618479 |
| Opitz Gbbb Syndrome |
|
Hypospadias, Thyroglossal cyst, Bifid scrotum, Bicornuate uterus, Short attention span, Shawl scr... |
ORPHA:2745 |
| Atypical Werner Syndrome |
|
Hypertriglyceridemia, Premature ovarian insufficiency, Renal neoplasm, Ovarian neoplasm, Secondar... |
ORPHA:79474 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Acute kidney injury, Reduced haptoglobin level, Hemosiderinuria, Impotence, Unconjugated hyperbil... |
ORPHA:447 |
| Bohring-Opitz Syndrome |
|
Optic atrophy, Urinary retention, Retinal atrophy, Nephroblastoma |
ORPHA:97297 |
| Fryns Syndrome |
|
Bicornuate uterus, Hypospadias, Cryptorchidism |
ORPHA:2059 |
| Cardiogenic Shock |
|
Oliguria, Elevated circulating creatinine concentration |
ORPHA:97292 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1 |
|
Renal hypoplasia, Absence of renal corticomedullary differentiation |
OMIM:619758 |
| Acrofacial Dysostosis, RodrÃguez Type |
|
Abnormality of the uterus |
ORPHA:1788 |
| Xq21 Microdeletion Syndrome |
|
Abnormal chorioretinal morphology, Optic atrophy, Chorioretinal degeneration, Renal artery stenos... |
ORPHA:1435 |
| Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Clitoral hypertrophy, Rectovaginal fistula, Labial hypoplasia, Bicornuate uterus, Septate vagina |
OMIM:300707 |
| Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Premature ovarian insufficiency, Micropenis, Hypospadias, Endometriosis |
ORPHA:363444 |
| Acute Interstitial Pneumonia |
|
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentration |
ORPHA:79126 |
| Pontocerebellar Hypoplasia Type 7 |
|
Gonadal dysgenesis, Clitoral hypertrophy, Abnormal scrotal rugation, Aplasia of the uterus, Micro... |
ORPHA:284339 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Decreased circulating androstenedione concentration, Clitoral hypertrophy, Decreased circulating ... |
OMIM:201750 |
| Myoectodermal Gonadal Dysgenesis Syndrome |
|
Gonadal dysgenesis, Clitoral hypoplasia, Elevated circulating follicle stimulating hormone level,... |
OMIM:618419 |
| Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome |
|
Labial hypoplasia, Clitoral hypertrophy, Bicornuate uterus |
ORPHA:140952 |
| Thauvin-Robinet-Faivre Syndrome |
|
Renal cyst, Retinal coloboma, Bifid ureter, Renal dysplasia, Renal malrotation, Nephroblastoma |
OMIM:617107 |
| Pagod Syndrome |
|
Abnormal testis morphology, Female pseudohermaphroditism, Abnormality of the uterus, Agonadism, A... |
ORPHA:991 |
| Meacham Syndrome |
|
Blind vagina, Septate vagina, Bicornuate uterus, Male pseudohermaphroditism |
OMIM:608978 |
| Multicystic Dysplastic Kidney |
|
Enlarged kidney, Unilateral renal agenesis, Ureterovesical junction obstruction, Vesicoureteral r... |
ORPHA:1851 |
| Familial Adenomatous Polyposis 4 |
|
Uterine leiomyoma, Ovarian cyst, Renal cyst |
OMIM:617100 |
| Diphallia |
|
Penoscrotal transposition, Epispadias, Renal malrotation, Ureteral duplication, Bifid penis, Hypo... |
ORPHA:227 |
| Currarino Syndrome |
|
Septate vagina, Bicornuate uterus, Rectovaginal fistula |
OMIM:176450 |
| Fanconi Anemia |
|
Hypospadias, Abnormal preputium morphology, Azoospermia, Decreased fertility in males, Bicornuate... |
ORPHA:84 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Optic atrophy, Retinal dysplasia, Retinal atrophy, Elevated circulating creatine kinase concentra... |
OMIM:253280 |
| Chromosome 17Q12 Deletion Syndrome |
|
Aplasia of the vagina, Aplasia of the uterus, Unicornuate uterus, Ovarian cyst, Cryptorchidism |
OMIM:614527 |
| Joubert Syndrome 21 |
|
Optic atrophy, Megalopapilla, Renal cyst, Retinopathy, Hyperechogenic kidneys |
OMIM:615636 |
| Mucopolysaccharidosis Type 2 |
|
Optic atrophy, Decreased nerve conduction velocity, Retinopathy, Abnormal foveal morphology, Papi... |
ORPHA:580 |
| Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Aplasia of the uterus, Absent external genitalia, Aplasia of the vagina |
OMIM:271520 |
| Ciliary Dyskinesia, Primary, 1 |
|
Absent outer dynein arms, Male infertility |
OMIM:244400 |
| Marburg Hemorrhagic Fever |
|
Hypokalemia, Hyperamylasemia, Elevated circulating creatine kinase concentration, Hyperammonemia,... |
ORPHA:99826 |
| Acrorenal-Mandibular Syndrome |
|
Uterus didelphys, Absent nipple, Bicornuate uterus, Unicornuate uterus |
OMIM:200980 |
| Waardenburg Syndrome |
|
Abnormality of the uterus, Abnormal vagina morphology |
ORPHA:3440 |
| Lowe Oculocerebrorenal Syndrome |
|
Low-molecular-weight proteinuria, Bicarbonaturia, Hypercholesterolemia, Elevated circulating crea... |
OMIM:309000 |
| Meckel Syndrome, Type 6 |
|
Abnormal internal genitalia, Aplasia of the bladder, Renal cyst, Hepatic cysts, Horseshoe kidney |
OMIM:612284 |
| Limb-Mammary Syndrome |
|
Breast aplasia, Hypoplastic nipples, Aplasia of the uterus, Absent nipple, Bilateral breast hypop... |
ORPHA:69085 |
| Rhombencephalosynapsis |
|
Abnormality of the uterus |
ORPHA:59315 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia of the uterus |
ORPHA:3320 |
| Bartsocas-Papas Syndrome 1 |
|
Hypoplastic labia majora, Hypoplastic male external genitalia, Bicornuate uterus, Bilateral crypt... |
OMIM:263650 |
| Meckel Syndrome 14 |
|
Ambiguous genitalia, Aplasia of the uterus |
OMIM:619879 |
| Yellow Fever |
|
Acute kidney injury, Hyperbilirubinemia, Anuria, Elevated circulating creatine kinase concentrati... |
ORPHA:99829 |
| Mosaic Trisomy 9 |
|
Hypoplastic female external genitalia, Abnormal fallopian tube morphology, Hypoplasia of penis, A... |
ORPHA:99776 |
| Hyperparathyroidism-Jaw Tumor Syndrome |
|
Testicular neoplasm, Hypercalciuria, Renal hamartoma, Nephrolithiasis, Renal cyst, Nephrocalcinos... |
ORPHA:99880 |
| Phocomelia, Schinzel Type |
|
Cryptorchidism, Aplasia of the uterus, Hypoplasia of penis |
ORPHA:2879 |
| Mckusick-Kaufman Syndrome |
|
Transverse vaginal septum, Hydrometrocolpos, Aganglionic megacolon, Hydroureter, Rectovaginal fis... |
OMIM:236700 |
| Norrie Disease |
|
Delayed puberty, Irritability, Erectile dysfunction, Uterine rupture, Cryptorchidism, Attention d... |
ORPHA:649 |
| Hereditary Arterial And Articular Multiple Calcification Syndrome |
|
Decreased serum creatinine |
ORPHA:289601 |
| Spinocerebellar Ataxia Type 7 |
|
Cone/cone-rod dystrophy, Macular degeneration, Abnormal fundus morphology |
ORPHA:94147 |
| Schinzel-Giedion Midface Retraction Syndrome |
|
Hypospadias, Hypoplastic labia minora, Hypoplastic nipples, Bicornuate uterus, Splenopancreatic f... |
OMIM:269150 |
| Renal Agenesis |
|
Aplasia/hypoplasia of the uterus, Absent vas deferens |
ORPHA:411709 |
| Alg9-Cdg |
|
Hypoplasia of the ovary, Irritability, Hypoplastic nipples, Bicornuate uterus |
ORPHA:79328 |
| Parathyroid Carcinoma |
|
Testicular neoplasm, Hypercalciuria, Renal hamartoma, Nephrolithiasis, Renal cyst, Nephrocalcinos... |
ORPHA:143 |
| Say-Barber-Miller Syndrome |
|
Optic atrophy, Macular degeneration, Hypogonadism, Cryptorchidism, Rod-cone dystrophy |
ORPHA:3132 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Uterus didelphys, Septate vagina, Micropenis, Absent gallbladder |
OMIM:617925 |
| Fanconi Anemia, Complementation Group L |
|
Attention deficit hyperactivity disorder, Aplasia of the uterus, Micropenis |
OMIM:614083 |
| Farber Disease |
|
Macular degeneration, Cherry red spot of the macula |
ORPHA:333 |
| Steinert Myotonic Dystrophy |
|
Abnormality of thyroid physiology, Male hypogonadism, Hyperinsulinemia, Decreased response to gro... |
ORPHA:273 |
| Primary Ciliary Dyskinesia |
|
Male infertility, Abnormal sperm motility, Female infertility |
ORPHA:244 |
| Microsporidiosis |
|
Adrenocortical abnormality, Prostatitis, Abnormal fallopian tube morphology, Thyroiditis, Abnorma... |
ORPHA:2552 |
| Lesch-Nyhan Syndrome |
|
Testicular atrophy |
OMIM:300322 |
| Coccidioidomycosis |
|
Abnormality of the male genitalia, Abnormality of the female genitalia, Abnormal sperm morphology... |
ORPHA:228123 |
| Microcephaly 29, Primary, Autosomal Recessive |
|
Reduced renal corticomedullary differentiation, Hyperechogenic kidneys |
OMIM:620047 |
| Ulnar-Mammary Syndrome |
|
Delayed puberty, Breast hypoplasia, Anterior pituitary hypoplasia, Hypoplastic nipples, Imperfora... |
OMIM:181450 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Acute kidney injury, Enlarged kidney, Increased serum bile acid concentration, Polycystic kidney ... |
ORPHA:731 |
| Fryns Syndrome |
|
Hypospadias, Bifid scrotum, Bicornuate uterus, Ectopic pancreatic tissue, Shawl scrotum, Cryptorc... |
OMIM:229850 |
| Vici Syndrome |
|
Elevated circulating creatine kinase concentration, Penile hypospadias, Hypopigmentation of the f... |
OMIM:242840 |
| Bardet-Biedl Syndrome |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypoplasia of penis, Hypoplasia of... |
ORPHA:110 |
| Fanconi Anemia, Complementation Group A |
|
Male infertility, Cryptorchidism, Hypergonadotropic hypogonadism |
OMIM:227650 |
| Cardiac-Urogenital Syndrome |
|
Penoscrotal hypospadias, Aplasia of the uterus, Bifid scrotum, Unilateral cryptorchidism, Ambiguo... |
OMIM:618280 |
| Pearson Marrow-Pancreas Syndrome |
|
Hypercalciuria, Hyperbilirubinemia, 3-Methylglutaric aciduria, Complex organic aciduria, Renal Fa... |
OMIM:557000 |
| Cowden Syndrome |
|
Neoplasm of the thyroid gland, Adenoma sebaceum, Abnormal penis morphology, Enlarged polycystic o... |
ORPHA:201 |
| Sickle Cell Anemia |
|
Elevated circulating creatinine concentration, Priapism, Unconjugated hyperbilirubinemia |
ORPHA:232 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Elevated circulating creatinine concentration, Hypercholesterolemia, Hyperbilirubinemia, Medullar... |
OMIM:619534 |
| Ehlers-Danlos Syndrome, Vascular Type |
|
Cervical insufficiency, Cryptorchidism, Uterine prolapse, Cystocele, Uterine rupture |
OMIM:130050 |
| Smith-Lemli-Opitz Syndrome |
|
Penoscrotal hypospadias, Hypospadias, Bifid scrotum, Bicornuate uterus, Precocious puberty, Small... |
OMIM:270400 |
| Gaucher Disease, Type I |
|
Macular atrophy |
OMIM:230800 |
| Spondyloenchondrodysplasia With Immune Dysregulation |
|
Tubulointerstitial fibrosis |
OMIM:607944 |
| Fraser Syndrome 1 |
|
Clitoral hypertrophy, Hypospadias, Bicornuate uterus, Vaginal atresia, Abnormal thymus morphology... |
OMIM:219000 |
| Fraser Syndrome |
|
Hypospadias, Hypoplasia of penis, Abnormal vagina morphology, Bicornuate uterus, Female pseudoher... |
ORPHA:2052 |
| Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Aplasia of the uterus, Aplasia of the vagina |
ORPHA:457284 |
| Cranioectodermal Dysplasia 3 |
|
Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:614099 |
| Hydrolethalus Syndrome 1 |
|
Adrenal gland dysgenesis, Bifid uterus, Hypospadias, Abnormal vagina morphology |
OMIM:236680 |
| Alström Syndrome |
|
Hypertriglyceridemia, Urinary incontinence, Precocious puberty in females, Hyperlipidemia, Recurr... |
ORPHA:64 |
| Tetrasomy 9P |
|
Infertility, Oligozoospermia, Absent gallbladder, Cryptorchidism, Micropenis |
ORPHA:3310 |
| Townes-Brocks Syndrome 1 |
|
Hypospadias, Rectovaginal fistula, Bifid scrotum, Rectoperineal fistula, Hypothyroidism, Bifid ut... |
OMIM:107480 |
| Loeys-Dietz Syndrome |
|
Uterine rupture |
ORPHA:60030 |
| X-Linked Intellectual Disability, Snyder Type |
|
Testicular atrophy, Cryptorchidism, Hypospadias, Abnormality of the Leydig cells |
ORPHA:3063 |
| Degcags Syndrome |
|
Abnormal renal medulla morphology, Hypospadias, Hyperbilirubinemia, Recurrent urinary tract infec... |
OMIM:619488 |
| Neu-Laxova Syndrome 1 |
|
Bifid uterus, Cryptorchidism |
OMIM:256520 |
| Cutis Laxa, Autosomal Dominant 1 |
|
Uterine prolapse |
OMIM:123700 |
| Acrofacial Dysostosis 1, Nager Type |
|
Bicornuate uterus |
OMIM:154400 |
| Okamoto Syndrome |
|
Bifid uterus |
ORPHA:2729 |
| Hermansky-Pudlak Syndrome 6 |
|
Perineal fistula, Endometriosis |
OMIM:614075 |
| Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Hypoplasia of penis, Uterus didelphys, Urethrovaginal fistula, Ambiguous genitalia, Cryptorchidism |
ORPHA:93271 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Hypertriglyceridemia, Macular atrophy, Primary amenorrhea |
OMIM:619418 |
| Lacrimoauriculodentodigital Syndrome |
|
Lacrimal gland aplasia, Abnormal salivary gland morphology, Cryptorchidism, Bicornuate uterus |
ORPHA:2363 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Annular pancreas, Bicornuate uterus, Hypospadias |
OMIM:265380 |
| Peters Plus Syndrome |
|
Hypospadias, Anterior hypopituitarism, Clitoral hypoplasia, Congenital hypothyroidism, Cryptorchi... |
ORPHA:709 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Decreased response to growth hormone stimulation test, Small pituitary gland, Low frustration tol... |
OMIM:619503 |
| Cystic Fibrosis |
|
Depression, Absent vas deferens, Male infertility |
ORPHA:586 |
| Meckel Syndrome, Type 1 |
|
Ambiguous genitalia, male, External genital hypoplasia, Adrenal hypoplasia, Bile duct proliferati... |
OMIM:249000 |
| Vascular Ehlers-Danlos Syndrome |
|
Hypospadias, Uterine rupture, Cognitive impairment, Uterine prolapse, Cystocele, Cryptorchidism |
ORPHA:286 |
| 22Q11.2 Deletion Syndrome |
|
Hypoparathyroidism, Hypospadias, Cholelithiasis, Depression, Hypoplasia of the thymus, Hypothyroi... |
ORPHA:567 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia of the uterus, Pancreatic cysts |
OMIM:274000 |
| Peters-Plus Syndrome |
|
Bilobate gallbladder, Hypospadias, Clitoral hypoplasia, Hypoplasia of the vagina, Cryptorchidism,... |
OMIM:261540 |
| Cornelia De Lange Syndrome |
|
Delayed puberty, Hypospadias, Hypoplasia of penis, Hypoplastic nipples, Abnormality of the uterus... |
ORPHA:199 |
| Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Hypospadias, Anteriorly displaced genitalia, Aplasia of the uterus, Hypoplastic nipples, Small sc... |
OMIM:276820 |
| Stickler Syndrome |
|
Retinal detachment, Retinal hole, Lattice retinal degeneration, Abnormal vitreous humor morphology |
ORPHA:828 |
| Pallister-Hall Syndrome |
|
Thyroid hypoplasia, Small scrotum, Central adrenal insufficiency, Hydrometrocolpos, Hypospadias, ... |
ORPHA:672 |
| Wolf-Hirschhorn Syndrome |
|
Precocious puberty, Cryptorchidism, Aplasia of the uterus, Hypospadias |
OMIM:194190 |
| Townes-Brocks Syndrome |
|
Delayed puberty, Hypospadias, Rectovaginal fistula, Hypoplasia of penis, Abnormal vagina morpholo... |
ORPHA:857 |
| Roberts-Sc Phocomelia Syndrome |
|
Clitoral hypertrophy, Enlarged labia minora, Hypospadias, Long penis, Bicornuate uterus, Cryptorc... |
OMIM:268300 |
| Coffin-Siris Syndrome 1 |
|
Clitoral hypertrophy, Cryptorchidism, Aplasia of the uterus, Hypospadias |
OMIM:135900 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Abnormality of the endocrine system, Precocious puberty, Uterine prolapse, Hypothyroidism, Abnorm... |
ORPHA:438213 |
| Cystic Fibrosis |
|
Male infertility |
OMIM:219700 |
| Classical Ehlers-Danlos Syndrome |
|
Cervical insufficiency, Uterine prolapse |
ORPHA:287 |
| Coffin-Lowry Syndrome |
|
Uterine prolapse |
OMIM:303600 |
| Aneurysm-Osteoarthritis Syndrome |
|
Uterine prolapse |
ORPHA:284984 |
| Pallister-Killian Syndrome |
|
Aplasia of the upper vagina, Hypospadias, Labial hypoplasia, Aplasia of the uterus, Small scrotum... |
OMIM:601803 |
| Joubert Syndrome With Renal Defect |
|
Aganglionic megacolon, Renal insufficiency, Nephropathy |
ORPHA:220497 |
| Loeys-Dietz Syndrome 3 |
|
Cystocele, Uterine prolapse |
OMIM:613795 |
