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 17 |
|
Male infertility |
OMIM:617214 |
Adie Pupil |
|
Tonic pupil |
OMIM:103100 |
Spermatogenic Failure 62 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619672 |
Spermatogenic Failure, Y-Linked, 2 |
|
Male infertility, Azoospermia |
OMIM:415000 |
Spermatogenic Failure 4 |
|
Male infertility, Azoospermia |
OMIM:270960 |
Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
Spermatogenic Failure 23 |
|
Male infertility, Azoospermia |
OMIM:617707 |
Spermatogenic Failure 32 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:618115 |
Spermatogenic Failure 71 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:619831 |
Spermatogenic Failure 57 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... |
OMIM:619528 |
Spermatogenic Failure 50 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size |
OMIM:619145 |
Pupillary Membrane, Persistence Of |
|
Developmental cataract, Megalocornea, Persistent pupillary membrane |
OMIM:178900 |
Spermatogenic Failure 29 |
|
Male infertility, Non-obstructive azoospermia, Immotile sperm |
OMIM:618091 |
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 |
Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
Spermatogenic Failure 22 |
|
Male infertility, Non-obstructive azoospermia, Cryptozoospermia |
OMIM:617706 |
Spermatogenic Failure 20 |
|
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617593 |
Spermatogenic Failure 48 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia |
OMIM:619108 |
Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
Spermatogenic Failure 30 |
|
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest |
OMIM:618110 |
Spermatogenic Failure 35 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618341 |
Exfoliation Syndrome |
|
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... |
OMIM:177650 |
Spermatogenic Failure 83 |
|
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... |
OMIM:620354 |
Spermatogenic Failure 25 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
Iris Pigment Epithelium Anomalies |
|
Iris cyst |
OMIM:601616 |
Spermatogenic Failure 43 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618751 |
Spermatogenic Failure 45 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619094 |
Spermatogenic Failure 19 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:617592 |
Spermatogenic Failure 82 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... |
OMIM:620353 |
Spermatogenic Failure 49 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619144 |
Spermatogenic Failure 31 |
|
Male infertility, Acephalic spermatozoa |
OMIM:618112 |
Spermatogenic Failure 26 |
|
Male infertility, Acephalic spermatozoa |
OMIM:617961 |
Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
Spermatogenic Failure 70 |
|
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia |
OMIM:619828 |
Spermatogenic Failure 37 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618429 |
Spermatogenic Failure 18 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:617576 |
Spermatogenic Failure 46 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:619095 |
Spermatogenic Failure 27 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:617965 |
Spermatogenic Failure 33 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618152 |
Partial Chromosome Y Deletion |
|
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... |
ORPHA:1646 |
Spermatogenic Failure 1 |
|
Male infertility, Cryptozoospermia, Oligozoospermia |
OMIM:258150 |
Spermatogenic Failure 72 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:619867 |
Spermatogenic Failure 34 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:618153 |
Spermatogenic Failure, X-Linked, 5 |
|
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... |
OMIM:301099 |
Spermatogenic Failure 5 |
|
Male infertility, Multiflagellar spermatozoa, Macrozoospermia |
OMIM:243060 |
Spermatogenic Failure 79 |
|
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia |
OMIM:620196 |
Spermatogenic Failure 44 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:619044 |
Spermatogenic Failure 16 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
Spermatogenic Failure 21 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
Spermatogenic Failure 7 |
|
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia |
OMIM:612997 |
Spermatogenic Failure 11 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:615081 |
Spermatogenic Failure 10 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:614822 |
Spermatogenic Failure 63 |
|
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia |
OMIM:619689 |
Spermatogenic Failure 47 |
|
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella |
OMIM:619102 |
Spermatogenic Failure 78 |
|
Male infertility, Microcephalic sperm head, Tapered sperm head |
OMIM:620170 |
Spermatogenic Failure 40 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... |
OMIM:618664 |
Spermatogenic Failure 76 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... |
OMIM:620084 |
Spermatogenic Failure 80 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... |
OMIM:620222 |
Spermatogenic Failure 58 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... |
OMIM:619585 |
Spermatogenic Failure, X-Linked, 3 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... |
OMIM:301059 |
Spermatogenic Failure 56 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619515 |
Spermatogenic Failure 41 |
|
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella |
OMIM:618670 |
Spermatogenic Failure 65 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619712 |
Spermatogenic Failure 64 |
|
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... |
OMIM:619696 |
Spermatogenic Failure 42 |
|
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... |
OMIM:618745 |
Spermatogenic Failure 39 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... |
OMIM:618643 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Male infertility, Abnormal sperm morphology, Immotile sperm |
OMIM:608653 |
Spermatogenic Failure 54 |
|
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... |
OMIM:619379 |
Male Infertility Due To Acephalic Spermatozoa |
|
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... |
ORPHA:529970 |
Anterior Segment Dysgenesis 8 |
|
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi... |
OMIM:617319 |
X-Linked Corneal Dermoid |
|
Abnormal pupil morphology, Corneal opacity |
ORPHA:1661 |
Deafness-Infertility Syndrome |
|
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... |
OMIM:611102 |
Isochromosomy Yp |
|
Male infertility, Azoospermia, Decreased testicular size |
ORPHA:98797 |
Anterior Segment Dysgenesis 3 |
|
Rieger anomaly, Ectopia pupillae, Hypoplastic iris stroma, Axenfeld anomaly, Peters anomaly, Post... |
OMIM:601631 |
Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
Cataract 50 With Or Without Glaucoma |
|
Cataract, Persistent pupillary membrane |
OMIM:620253 |
Spermatogenic Failure 81 |
|
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia |
OMIM:620277 |
Uveal Melanoma |
|
Iris melanoma, Inferior lens subluxation, Zonular cataract, Ciliary body melanoma, Mydriasis |
ORPHA:39044 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Microcoria, Iris coloboma, Chorioretinal coloboma |
OMIM:616428 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Male infertility, Bilateral cryptorchidism |
OMIM:261550 |
Spermatogenic Failure 66 |
|
Male infertility, Globozoospermia |
OMIM:619799 |
Spermatogenic Failure 67 |
|
Male infertility, Globozoospermia |
OMIM:619803 |
Spermatogenic Failure 68 |
|
Male infertility, Globozoospermia |
OMIM:619805 |
Spermatogenic Failure 9 |
|
Male infertility, Globozoospermia |
OMIM:613958 |
Spermatogenic Failure 69 |
|
Male infertility, Globozoospermia |
OMIM:619826 |
Spermatogenic Failure, X-Linked, 6 |
|
Male infertility, Coiled sperm flagella, Reduced sperm motility, Absent sperm axoneme central pai... |
OMIM:301101 |
Ectopia Pupillae |
|
Ectopia pupillae |
OMIM:129750 |
Corneal Dystrophy, Posterior Amorphous |
|
Ectopia pupillae, Iris coloboma, Corneal dystrophy |
OMIM:612868 |
Spermatogenic Failure 6 |
|
Male infertility, Decreased acrosin in sperm head, Globozoospermia |
OMIM:102530 |
Ectopia Lentis Et Pupillae |
|
Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m... |
OMIM:225200 |
Spermatogenic Failure, X-Linked, 7 |
|
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... |
OMIM:301106 |
Facial Spasm |
|
Anisocoria |
OMIM:134300 |
Microcoria, Congenital |
|
Microcoria, Miosis, Hypoplasia of the iris dilator muscle |
OMIM:156600 |
Spermatogenic Failure 75 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619949 |
Corneal Dystrophy, Posterior Polymorphous, 4 |
|
Ectopia pupillae |
OMIM:618031 |
Iridocorneal Endothelial Syndrome |
|
Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ... |
ORPHA:64734 |
Intestinal Botulism |
|
Mydriasis |
ORPHA:178481 |
Toxin-Mediated Infectious Botulism |
|
Mydriasis |
ORPHA:230800 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4 |
|
Mydriasis |
OMIM:619365 |
Spermatogenic Failure 38 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility, Tapered sperm h... |
OMIM:618433 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane |
ORPHA:1067 |
Ciliary Dyskinesia, Primary, 50 |
|
Male infertility, Reduced progressive sperm motility, Coiled sperm flagella, Short sperm flagella... |
OMIM:620356 |
Iatrogenic Botulism |
|
Mydriasis |
ORPHA:254509 |
Hypogonadism-Cataract Syndrome |
|
Male hypogonadism, Cataract, Hypogonadism, Infertility |
OMIM:240950 |
Wound Botulism |
|
Mydriasis |
ORPHA:178475 |
Isochromosomy Yq |
|
Male infertility, Azoospermia, Decreased testicular size |
ORPHA:98798 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Male infertility, Obstructive azoospermia |
OMIM:301060 |
Corneal Dystrophy, Posterior Polymorphous, 3 |
|
Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata |
OMIM:609141 |
Autosomal Recessive Ataxia Due To Pex10 Deficiency |
|
Mydriasis |
ORPHA:247815 |
Inhalational Botulism |
|
Mydriasis |
ORPHA:254504 |
Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... |
OMIM:122000 |
Megalocornea |
|
Iridodonesis, Cataract, Miosis, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumi... |
OMIM:309300 |
Spermatogenic Failure 15 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:616950 |
Botulism |
|
Mydriasis |
ORPHA:1267 |
Spermatogenic Failure 2 |
|
Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia |
OMIM:108420 |
Foodborne Botulism |
|
Mydriasis |
ORPHA:228371 |
Microphthalmia, Isolated, With Corectopia |
|
Ectopia pupillae |
OMIM:156900 |
Infant Botulism |
|
Keratoconjunctivitis sicca, Mydriasis |
ORPHA:178478 |
Miller Fisher Syndrome |
|
Anisocoria, Mydriasis |
ORPHA:98919 |
Spermatogenic Failure 77 |
|
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia |
OMIM:620103 |
Pituitary Apoplexy |
|
Impotence, Hypergonadotropic hypogonadism, Oligomenorrhea, Mydriasis |
ORPHA:95613 |
Spinocerebellar Ataxia Type 32 |
|
Male infertility, Azoospermia, Testicular atrophy |
ORPHA:276183 |
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Male infertility, Azoospermia |
OMIM:300985 |
Vas Deferens, Congenital Bilateral Aplasia Of |
|
Male infertility, Azoospermia |
OMIM:277180 |
Posterior Polymorphous Corneal Dystrophy |
|
Increased corneal curvature, Corneal opacity, Chorioretinal degeneration, Uveal ectropion, Abnorm... |
ORPHA:98973 |
Serotonin Syndrome |
|
Mydriasis |
ORPHA:43116 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Cryptorchidism, Mydriasis |
OMIM:613834 |
Ophthalmoplegia, Familial Static |
|
Anisocoria |
OMIM:165000 |
Charcot-Marie-Tooth Disease Type 1B |
|
Abnormal pupil morphology |
ORPHA:101082 |
Spermatogenic Failure 28 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size |
OMIM:618086 |
Coats Disease |
|
Leukocoria |
OMIM:300216 |
X-Linked Recessive Ocular Albinism |
|
Abnormal pupil morphology, Astigmatism, Ocular albinism, Iris hypopigmentation |
ORPHA:54 |
Congenital Bilateral Absence Of Vas Deferens |
|
Male infertility, Obstructive azoospermia, Oligozoospermia |
ORPHA:48 |
Arachnoid Cyst |
|
Mydriasis |
ORPHA:2356 |
Osteopetrosis, Autosomal Recessive 5 |
|
Mydriasis |
OMIM:259720 |
Woolly Hair |
|
Abnormal pupil morphology, Cataract |
ORPHA:170 |
Woolly Hair Nevus |
|
Heterochromia iridis, Persistent pupillary membrane |
ORPHA:79414 |
Hec Syndrome |
|
Abnormal pupil morphology, Vaginal hydrocele, Developmental cataract |
ORPHA:2119 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Corneal opacity, Leukocoria, Uveitis, Microcornea, Buphthalmos, Shallow anterior chambe... |
OMIM:221900 |
Myopathy, Tubular Aggregate, 1 |
|
Abnormal pupil morphology |
OMIM:160565 |
Alternating Hemiplegia Of Childhood |
|
Mydriasis |
ORPHA:2131 |
Isolated Ectopia Lentis |
|
Ectopia pupillae, Cataract, Ectopia lentis |
ORPHA:1885 |
Intellectual Developmental Disorder, X-Linked, Syndromic 17 |
|
Anisocoria |
OMIM:300858 |
Bickerstaff Brainstem Encephalitis |
|
Anisocoria, Mydriasis |
ORPHA:79138 |
Familial Peripheral Male-Limited Precocious Puberty |
|
Male infertility, Macroorchidism, Oligozoospermia |
ORPHA:3000 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Mydriasis |
OMIM:619351 |
Fuchs Heterochromic Iridocyclitis |
|
Anterior chamber inflammatory cells, Iris atrophy, Cataract, Anisocoria, Posterior synechiae of t... |
ORPHA:263479 |
Scorpion Envenomation |
|
Miosis, Priapism, Mydriasis |
ORPHA:466677 |
Ciliary Dyskinesia, Primary, 45 |
|
Male infertility |
OMIM:618801 |
Cocaine Intoxication |
|
Mydriasis |
ORPHA:90068 |
Norrie Disease |
|
Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham... |
OMIM:310600 |
Spermatogenic Failure 14 |
|
Male infertility, Azoospermia |
OMIM:615842 |
Hirschsprung Disease-Ganglioneuroblastoma Syndrome |
|
Abnormal pupil morphology |
ORPHA:2151 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:618948 |
Spermatogenic Failure, X-Linked, 4 |
|
Male infertility, Azoospermia |
OMIM:301077 |
Alexander Disease |
|
Microcoria |
OMIM:203450 |
Phacoanaphylactic Uveitis |
|
Hypopyon, Anterior uveitis, Keratitis, Abnormal pupil morphology, Abnormal corneal endothelium mo... |
ORPHA:209959 |
Craniotubular Dysplasia, Ikegawa Type |
|
Mydriasis |
OMIM:619727 |
Aniridia 1 |
|
Anterior subcapsular cataract, Cataract, Ectopia lentis, Corneal erosion, Hypoplasia of the iris,... |
OMIM:106210 |
Short Syndrome |
|
Posterior embryotoxon, Corneal opacity, Abnormal pupil morphology, Hypoplasia of the iris, Megalo... |
ORPHA:3163 |
Unilateral Ocular Duplication |
|
Microcornea, Abnormal pupil morphology, Iris coloboma |
ORPHA:3374 |
Axenfeld-Rieger Syndrome, Type 3 |
|
Hypoplasia of the iris, Posterior embryotoxon, Ectopia pupillae, Posterior synechiae of the anter... |
OMIM:602482 |
Ring Chromosome Y Syndrome |
|
Male infertility, Streak ovary, Unilateral cryptorchidism, Female infertility, Cryptorchidism, Ab... |
ORPHA:261529 |
Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Male infertility |
OMIM:300991 |
Chromosome 16Q12 Duplication Syndrome |
|
Anisocoria, Cataract |
OMIM:619649 |
Ciliary Dyskinesia, Primary, 34 |
|
Male infertility, Immotile sperm |
OMIM:617091 |
Axenfeld-Rieger Syndrome, Type 1 |
|
Rieger anomaly, Polycoria, Microcornea, Hypoplasia of the iris, Ectopia pupillae, Aniridia, Megal... |
OMIM:180500 |
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Male infertility, Short sperm flagella, Coiled sperm flagella |
OMIM:620197 |
Classic Galactosemia |
|
Male infertility, Premature ovarian insufficiency, Cataract, Decreased fertility in females, Cryp... |
ORPHA:79239 |
Persistent Hyperplastic Primary Vitreous |
|
Cataract, Corneal opacity, Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow ... |
ORPHA:91495 |
Oculopalatocerebral Syndrome |
|
Leukocoria |
OMIM:257910 |
Congenital Fibrosis Of Extraocular Muscles |
|
Cataract, Miosis, Hypogonadotropic hypogonadism, Anisocoria, Abnormal pupil shape, Slow pupillary... |
ORPHA:45358 |
Plague |
|
Conjunctival hyperemia, Mydriasis |
ORPHA:707 |
Proteus-Like Syndrome |
|
Limbal dermoid, Abnormal pupil morphology, Cataract, Heterochromia iridis |
ORPHA:2969 |
Alagille Syndrome |
|
Keratoconus, Cryptorchidism, Abnormal pupil morphology, Corneal dystrophy |
ORPHA:52 |
Charcot-Marie-Tooth Disease Type 1E |
|
Anisocoria, Tonic pupil, Abnormal pupil morphology, Slow pupillary light response |
ORPHA:90658 |
Trisomy 9P |
|
Abnormal pupil morphology |
ORPHA:236 |
Distal Deletion 6P |
|
Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Anterior synechiae of the anterio... |
ORPHA:96125 |
Duane Retraction Syndrome |
|
Central heterochromia, Abnormal pupil morphology, Microcornea, Hypoplastic iris stroma, Chorioret... |
ORPHA:233 |
Cutis Marmorata Telangiectatica Congenita |
|
Leukocoria |
OMIM:219250 |
Intellectual Disability-Alacrima-Achalasia Syndrome |
|
Anisocoria |
ORPHA:289483 |
Familial Dysautonomia |
|
Abnormal pupil morphology, Heterochromia iridis, Corneal erosion, Corneal opacity |
ORPHA:1764 |
Ciliary Dyskinesia, Primary, 18 |
|
Male infertility, Immotile sperm |
OMIM:614874 |
Ciliary Dyskinesia, Primary, 9 |
|
Male infertility |
OMIM:612444 |
Ciliary Dyskinesia, Primary, 14 |
|
Male infertility, Reduced sperm motility, Immotile sperm |
OMIM:613807 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Microcornea, Ectopia pupillae, Cataract, Sclerocornea |
OMIM:615877 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Ectopia pupillae, Astigmatism, Cataract |
OMIM:618727 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Male infertility |
ORPHA:2239 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Microcornea, Cataract, Persistent pupillary membrane |
OMIM:257850 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
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Buphthalmos, Cataract, Peters anomaly, Persistent pupillary membrane |
OMIM:613150 |
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
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Male infertility |
OMIM:619607 |
Nephronophthisis 11 |
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Anisocoria |
OMIM:613550 |
Pierson Syndrome |
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Rieger anomaly, Cataract, Hypoplasia of the ciliary body, Uveal ectropion, Hypoplasia of the iris... |
OMIM:609049 |
Ciliary Dyskinesia, Primary, 19 |
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Male infertility |
OMIM:614935 |
47,Xyy Syndrome |
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Male infertility, Cryptorchidism, Oligozoospermia, Azoospermia, Macroorchidism |
ORPHA:8 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
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Ectopia pupillae, Corneal opacity, Lens subluxation |
ORPHA:85167 |
Knobloch Syndrome 1 |
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Band keratopathy, Chorioretinal atrophy, Developmental cataract, Iris transillumination defect, L... |
OMIM:267750 |
Achalasia-Addisonianism-Alacrima Syndrome |
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Anisocoria |
OMIM:231550 |
Norrie Disease |
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Aplasia/Hypoplasia of the lens, Abnormal chorioretinal morphology, Corneal opacity, Sclerocornea,... |
ORPHA:649 |
Trichinellosis |
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Anisocoria, Conjunctival hyperemia, Conjunctivitis, Abnormal uvea morphology |
ORPHA:863 |
Revesz Syndrome |
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Megalocornea, Leukocoria |
OMIM:268130 |
Oculocerebrorenal Syndrome Of Lowe |
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Cataract, Corneal opacity, Chorioretinal dysplasia, Cryptorchidism, Abnormal pupil morphology, Bu... |
ORPHA:534 |
Ciliary Dyskinesia, Primary, 1 |
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Male infertility, Abnormal cornea morphology |
OMIM:244400 |
Oculo-Palato-Cerebral Syndrome |
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Cataract, Leukocoria |
ORPHA:2714 |
Charcot-Marie-Tooth Disease Type 4C |
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Anisocoria, Abnormal pupillary light reflex |
ORPHA:99949 |
Complete Androgen Insensitivity Syndrome |
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Bilateral cryptorchidism, Testicular neoplasm, Primary amenorrhea, Male infertility |
ORPHA:99429 |
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome |
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Anisocoria |
OMIM:615510 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
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Anisocoria, Cryptorchidism |
OMIM:618653 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
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Corneal opacity, Polycoria, Developmental cataract, Microcornea, Hypoplasia of the iris, Ectopia ... |
OMIM:175780 |
Scalp-Ear-Nipple Syndrome |
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Anisocoria, Cataract, Iris coloboma, Developmental cataract |
OMIM:181270 |
Retinoblastoma |
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Hypopyon, Heterochromia iridis, Leukocoria, Uveitis |
ORPHA:790 |
Aromatase Deficiency |
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Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... |
ORPHA:91 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
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Ectopia pupillae |
OMIM:618223 |
Partial Androgen Insensitivity Syndrome |
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Male infertility, Bilateral cryptorchidism, Primary amenorrhea, Azoospermia, Male sexual dysfunction |
ORPHA:90797 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
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Male infertility, Bilateral cryptorchidism, Irregular menstruation, Decreased fertility, Primary ... |
ORPHA:90793 |
Superficial Siderosis |
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Anisocoria |
ORPHA:247245 |
Retinoblastoma |
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Leukocoria |
OMIM:180200 |
Cutis Marmorata Telangiectatica Congenita |
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Leukocoria |
ORPHA:1556 |
Wolf-Hirschhorn Syndrome |
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Cryptorchidism, Ectopia pupillae, Iris coloboma, Rieger anomaly |
OMIM:194190 |
46,Xy Partial Gonadal Dysgenesis |
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Male infertility, Streak ovary, Hypergonadotropic hypogonadism, Decreased fertility in females, C... |
ORPHA:251510 |
Mowat-Wilson Syndrome |
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Cataract, Cryptorchidism, Microcornea, Ectopia pupillae, Chorioretinal coloboma, Iris coloboma |
OMIM:235730 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Iris atrophy, Cataract, Cryptorchidism, Abnormal pupil morphology, Hydrocele testis, Microcornea,... |
ORPHA:261552 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
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Male infertility, Streak ovary, Unilateral cryptorchidism, Bilateral cryptorchidism, Cryptorchidi... |
ORPHA:1772 |
Witteveen-Kolk Syndrome |
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Anisocoria, Cataract, Unilateral cryptorchidism, Iris coloboma |
OMIM:613406 |
Vascular Ehlers-Danlos Syndrome |
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Keratoconus, Cryptorchidism, Abnormal pupil morphology |
ORPHA:286 |
Sponastrime Dysplasia |
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Microcoria, Cataract, Congenital aphakia |
ORPHA:93357 |