| 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 |
| Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
| Spermatogenic Failure 7 |
|
Oligospermia, Male infertility, Reduced sperm motility, Immotile sperm |
OMIM:612997 |
| Spermatogenic Failure 43 |
|
Absent sperm flagella, Absent sperm axoneme central pair complex, Reduced sperm motility, Male in... |
OMIM:618751 |
| Spermatogenic Failure 45 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:619094 |
| Spermatogenic Failure 19 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:617592 |
| Spermatogenic Failure 49 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:619144 |
| Oocyte/Zygote/Embryo Maturation Arrest 16 |
|
Infertility |
OMIM:617234 |
| Spermatogenic Failure 29 |
|
Male infertility, Immotile sperm, Non-obstructive azoospermia |
OMIM:618091 |
| Spermatogenic Failure 44 |
|
Male infertility, Reduced sperm motility, Acephalic spermatozoa |
OMIM:619044 |
| Spermatogenic Failure 16 |
|
Male infertility, Reduced sperm motility, Acephalic spermatozoa |
OMIM:617187 |
| Spermatogenic Failure 37 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... |
OMIM:618429 |
| Spermatogenic Failure 18 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... |
OMIM:617576 |
| Spermatogenic Failure 46 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... |
OMIM:619095 |
| Spermatogenic Failure 27 |
|
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... |
OMIM:617965 |
| Spermatogenic Failure 33 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... |
OMIM:618152 |
| Spermatogenic Failure 58 |
|
Short sperm flagella, Oligospermia, Irregularly shaped sperm tail, Male infertility, Reduced prog... |
OMIM:619585 |
| Spermatogenic Failure 21 |
|
Infertility, Reduced sperm motility, Acephalic spermatozoa |
OMIM:617644 |
| Spermatogenic Failure 11 |
|
Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility |
OMIM:615081 |
| Spermatogenic Failure 10 |
|
Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility |
OMIM:614822 |
| Spermatogenic Failure 72 |
|
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Irregular... |
OMIM:619867 |
| Spermatogenic Failure 34 |
|
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... |
OMIM:618153 |
| Spermatogenic Failure 47 |
|
Absent sperm flagella, Short sperm flagella, Oligospermia, Male infertility, Immotile sperm |
OMIM:619102 |
| Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Abnormal sperm morphology, Male infertility, Immotile sperm |
OMIM:608653 |
| Spermatogenic Failure 63 |
|
Oligospermia, Male infertility, Reduced progressive sperm motility |
OMIM:619689 |
| Spermatogenic Failure 56 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... |
OMIM:619515 |
| Spermatogenic Failure 40 |
|
Absent sperm flagella, Short sperm flagella, Oligospermia, Male infertility, Coiled sperm flagell... |
OMIM:618664 |
| Spermatogenic Failure 76 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... |
OMIM:620084 |
| Spermatogenic Failure 70 |
|
Oligospermia, Reduced sperm motility, Azoospermia, Male infertility |
OMIM:619828 |
| Spermatogenic Failure 41 |
|
Tapered sperm head, Short sperm flagella, Oligospermia, Male infertility, Immotile sperm |
OMIM:618670 |
| Spermatogenic Failure 65 |
|
Absent sperm flagella, Abnormal sperm mid-piece morphology, Short sperm flagella, Reduced sperm m... |
OMIM:619712 |
| Spermatogenic Failure 20 |
|
Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella |
OMIM:617593 |
| Male Infertility Due To Acephalic Spermatozoa |
|
Abnormal sperm mid-piece morphology, Reduced sperm motility, Oligospermia, Male infertility, Acep... |
ORPHA:529970 |
| Spermatogenic Failure, X-Linked, 3 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... |
OMIM:301059 |
| Spermatogenic Failure 64 |
|
Reduced progressive sperm motility, Oligospermia, Male infertility, Abnormal sperm head morphology |
OMIM:619696 |
| Spermatogenic Failure 35 |
|
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Male infe... |
OMIM:618341 |
| Spermatogenic Failure 42 |
|
Absent sperm flagella, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Male inf... |
OMIM:618745 |
| Spermatogenic Failure 62 |
|
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619673 |
| Spermatogenic Failure 61 |
|
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619672 |
| Spermatogenic Failure 39 |
|
Absent sperm flagella, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospe... |
OMIM:618643 |
| Spermatogenic Failure 36 |
|
Abnormal sperm morphology, Male infertility |
OMIM:618420 |
| Spermatogenic Failure 73 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619878 |
| Spermatogenic Failure 59 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619645 |
| Spermatogenic Failure 60 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619646 |
| Spermatogenic Failure 74 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619937 |
| Spermatogenic Failure 4 |
|
Male infertility, Azoospermia |
OMIM:270960 |
| Spermatogenic Failure 54 |
|
Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospermia, Cryptozoospermia,... |
OMIM:619379 |
| Spermatogenic Failure 78 |
|
Microcephalic sperm head, Male infertility, Tapered sperm head |
OMIM:620170 |
| Deafness-Infertility Syndrome |
|
Abnormal sperm tail morphology, Abnormal spermatogenesis, Reduced sperm motility, Male infertilit... |
OMIM:611102 |
| 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 1 |
|
Oligospermia, Cryptozoospermia, Male infertility |
OMIM:258150 |
| Spermatogenic Failure 5 |
|
Multiflagellar spermatozoa, Male infertility, Macrocephalic sperm head |
OMIM:243060 |
| Spermatogenic Failure 22 |
|
Cryptozoospermia, Male infertility, Non-obstructive azoospermia |
OMIM:617706 |
| Spermatogenic Failure 48 |
|
Spermatogenesis maturation arrest, Oligospermia, Male infertility, Azoospermia |
OMIM:619108 |
| Spermatogenic Failure, Y-Linked, 2 |
|
Male infertility, Azoospermia |
OMIM:415000 |
| Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
| Spermatogenic Failure 23 |
|
Male infertility, Azoospermia |
OMIM:617707 |
| Spermatogenic Failure 57 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619528 |
| Spermatogenic Failure 32 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:618115 |
| Spermatogenic Failure 71 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619831 |
| Spermatogenic Failure 25 |
|
Early spermatogenesis maturation arrest, Cryptozoospermia, Male infertility, Non-obstructive azoo... |
OMIM:617960 |
| Spermatogenic Failure 50 |
|
Spermatogenesis maturation arrest, Male infertility, Azoospermia |
OMIM:619145 |
| Spermatogenic Failure 24 |
|
Tapered sperm head, Short sperm flagella, Reduced sperm motility, Microcephalic sperm head, Coile... |
OMIM:617959 |
| Spermatogenic Failure 30 |
|
Spermatogenesis maturation arrest, Cryptozoospermia, Male infertility, Azoospermia |
OMIM:618110 |
| Spermatogenic Failure 51 |
|
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... |
OMIM:619177 |
| Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
| Partial Chromosome Y Deletion |
|
Oligospermia, Abnormal spermatogenesis, Male infertility, Non-obstructive azoospermia |
ORPHA:1646 |
| Pupillary Membrane, Persistence Of |
|
Megalocornea, Persistent pupillary membrane, Developmental cataract |
OMIM:178900 |
| Exfoliation Syndrome |
|
Phakodonesis, Pigment deposition in the trabecular meshwork, Mydriasis, Iris hypoperfusion, Lens ... |
OMIM:177650 |
| Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Male infertility |
OMIM:261550 |
| Isochromosomy Yp |
|
Male infertility, Azoospermia |
ORPHA:98797 |
| Spermatogenic Failure 38 |
|
Absent sperm flagella, Tapered sperm head, Reduced sperm motility, Oligospermia, Male infertility... |
OMIM:618433 |
| Ciliary Dyskinesia, Primary, 41 |
|
Infertility, Immotile sperm |
OMIM:618449 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Spermatogenic Failure, X-Linked, 2 |
|
Spermatogenesis maturation arrest, Testicular atrophy, Male infertility, Azoospermia |
OMIM:309120 |
| Spermatogenic Failure 66 |
|
Globozoospermia, Male infertility |
OMIM:619799 |
| Spermatogenic Failure 67 |
|
Globozoospermia, Male infertility |
OMIM:619803 |
| Spermatogenic Failure 68 |
|
Globozoospermia, Male infertility |
OMIM:619805 |
| Spermatogenic Failure 9 |
|
Globozoospermia, Male infertility |
OMIM:613958 |
| Spermatogenic Failure 69 |
|
Globozoospermia, Male infertility |
OMIM:619826 |
| Spermatogenic Failure 6 |
|
Globozoospermia, Male infertility, Decreased acrosin in sperm head |
OMIM:102530 |
| Spermatogenic Failure 75 |
|
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619949 |
| Anterior Segment Dysgenesis 8 |
|
Iris transillumination defect, Persistent pupillary membrane, Hypoplasia of the iris, Uveal ectro... |
OMIM:617319 |
| Spermatogenic Failure 12 |
|
Infertility, Azoospermia |
OMIM:615413 |
| Iris Pigment Epithelium Anomalies |
|
Iris cyst |
OMIM:601616 |
| X-Linked Corneal Dermoid |
|
Abnormal pupil morphology, Corneal opacity |
ORPHA:1661 |
| Isochromosomy Yq |
|
Male infertility, Azoospermia |
ORPHA:98798 |
| Azoospermia, Obstructive, With Nephrolithiasis |
|
Male infertility, Obstructive azoospermia |
OMIM:301060 |
| Uveal Melanoma |
|
Iris melanoma, Zonular cataract, Mydriasis, Ciliary body melanoma, Inferior lens subluxation |
ORPHA:39044 |
| Anterior Segment Dysgenesis 3 |
|
Rieger anomaly, Posterior embryotoxon, Axenfeld anomaly, Hypoplastic iris stroma, Peters anomaly,... |
OMIM:601631 |
| Spermatogenic Failure 15 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:616950 |
| Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
| Osteoporosis |
|
Osteoporosis |
OMIM:166710 |
| Microphthalmia, Isolated, With Coloboma 10 |
|
Microcoria, Iris coloboma, Chorioretinal coloboma |
OMIM:616428 |
| Spermatogenic Failure 2 |
|
Oligospermia, Male infertility, Azoospermia, Non-obstructive azoospermia |
OMIM:108420 |
| Pyknoachondrogenesis |
|
Increased bone mineral density |
OMIM:265880 |
| Spinocerebellar Ataxia Type 32 |
|
Testicular atrophy, Male infertility, Azoospermia |
ORPHA:276183 |
| Melorheostosis, Isolated |
|
Increased bone mineral density, Hyperostosis |
OMIM:155950 |
| Ectopia Lentis Et Pupillae |
|
Iris transillumination defect, Ectopia lentis, Cataract, Ectopia pupillae, Persistent pupillary m... |
OMIM:225200 |
| Corneal Dystrophy, Posterior Amorphous |
|
Iris coloboma, Corneal dystrophy, Ectopia pupillae |
OMIM:612868 |
| Spermatogenic Failure 77 |
|
Multiflagellar spermatozoa, Oligospermia, Male infertility, Azoospermia |
OMIM:620103 |
| Intestinal Botulism |
|
Mydriasis |
ORPHA:178481 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4 |
|
Mydriasis |
OMIM:619365 |
| Toxin-Mediated Infectious Botulism |
|
Mydriasis |
ORPHA:230800 |
| Microcoria, Congenital |
|
Microcoria, Hypoplasia of the iris dilator muscle, Miosis |
OMIM:156600 |
| Iridocorneal Endothelial Syndrome |
|
Abnormal migration of corneal endothelium, Central heterochromia, Posterior synechiae of the ante... |
ORPHA:64734 |
| Hypogonadism-Cataract Syndrome |
|
Male hypogonadism, Infertility, Hypogonadism |
OMIM:240950 |
| Congenital Bilateral Absence Of Vas Deferens |
|
Oligospermia, Male infertility, Obstructive azoospermia |
ORPHA:48 |
| Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane |
ORPHA:1067 |
| Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Male infertility, Azoospermia |
OMIM:300985 |
| Vas Deferens, Congenital Bilateral Aplasia Of |
|
Male infertility, Azoospermia |
OMIM:277180 |
| Iatrogenic Botulism |
|
Mydriasis |
ORPHA:254509 |
| Ciliary Dyskinesia, Primary, 34 |
|
Male infertility, Immotile sperm |
OMIM:617091 |
| Prolactin Deficiency, Isolated |
|
Irregular menstruation, Infertility |
OMIM:264110 |
| Wound Botulism |
|
Mydriasis |
ORPHA:178475 |
| Ciliary Dyskinesia, Primary, 45 |
|
Male infertility |
OMIM:618801 |
| Spermatogenic Failure 28 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:618086 |
| Autosomal Recessive Ataxia Due To Pex10 Deficiency |
|
Mydriasis |
ORPHA:247815 |
| Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:618948 |
| Inhalational Botulism |
|
Mydriasis |
ORPHA:254504 |
| Spermatogenic Failure 14 |
|
Male infertility, Azoospermia, Late spermatogenesis maturation arrest |
OMIM:615842 |
| Ciliary Dyskinesia, Primary, 46 |
|
Reduced sperm motility |
OMIM:619436 |
| Ectopia Pupillae |
|
Ectopia pupillae |
OMIM:129750 |
| Botulism |
|
Mydriasis |
ORPHA:1267 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Mydriasis, Increased bone mineral density, Decreased osteoclast count, Cranial hyperostosis, Oste... |
OMIM:259720 |
| Familial Male-Limited Precocious Puberty |
|
Oligospermia, Male infertility |
ORPHA:3000 |
| Gnathodiaphyseal Dysplasia |
|
Increased susceptibility to fractures, Osteomyelitis, Osteopenia, Diaphyseal cortical sclerosis |
OMIM:166260 |
| Cardiomyopathy, Dilated, 1I |
|
Cardiomegaly, Dilated cardiomyopathy |
OMIM:604765 |
| Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Anterior synechiae of the anterior chamber, Uveal ectropion, Abnormal Descemet membrane morpholog... |
OMIM:122000 |
| Foodborne Botulism |
|
Mydriasis |
ORPHA:228371 |
| Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Male infertility |
OMIM:300991 |
| Corneal Dystrophy, Posterior Polymorphous, 4 |
|
Ectopia pupillae |
OMIM:618031 |
| Megalocornea |
|
Mosaic corneal dystrophy, Megalocornea, Corneal arcus, Iris transillumination defect, Deep anteri... |
OMIM:309300 |
| Spermatogenic Failure, X-Linked, 4 |
|
Male infertility, Azoospermia |
OMIM:301077 |
| Infant Botulism |
|
Keratoconjunctivitis sicca, Mydriasis |
ORPHA:178478 |
| Facial Spasm |
|
Anisocoria |
OMIM:134300 |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Rickets, Increased bone mineral density, Hypophosphatemic rickets, Craniosynostosis |
OMIM:241520 |
| Dacryocystitis-Osteopoikilosis Syndrome |
|
Increased bone mineral density, Osteopoikilosis |
ORPHA:1562 |
| Myopathy, Tubular Aggregate, 1 |
|
Abnormal pupil morphology, Flexion contracture, Joint contracture |
OMIM:160565 |
| Serotonin Syndrome |
|
Mydriasis |
ORPHA:43116 |
| Ciliary Dyskinesia, Primary, 18 |
|
Male infertility, Immotile sperm |
OMIM:614874 |
| Isolated Ectopia Lentis |
|
Cataract, Ectopia lentis, Joint stiffness, Ectopia pupillae |
ORPHA:1885 |
| Posterior Polymorphous Corneal Dystrophy |
|
Reduced number of corneal endothelial cells, Anterior synechiae of the anterior chamber, Abnormal... |
ORPHA:98973 |
| Ciliary Dyskinesia, Primary, 26 |
|
Infertility, Reduced sperm motility |
OMIM:615500 |
| Microphthalmia, Isolated, With Corectopia |
|
Ectopia pupillae |
OMIM:156900 |
| Charcot-Marie-Tooth Disease Type 1B |
|
Abnormal pupil morphology |
ORPHA:101082 |
| Craniotubular Dysplasia, Ikegawa Type |
|
Thin bony cortex, Sclerosis of skull base, Mydriasis |
OMIM:619727 |
| Pituitary Apoplexy |
|
Mydriasis |
ORPHA:95613 |
| Ciliary Dyskinesia, Primary, 14 |
|
Male infertility, Reduced sperm motility, Immotile sperm |
OMIM:613807 |
| Ciliary Dyskinesia, Primary, 12 |
|
Reduced sperm motility, Immotile sperm |
OMIM:612650 |
| Autosomal Recessive Spastic Paraplegia Type 46 |
|
Abnormal sperm morphology, Infertility, Reduced sperm motility, Abnormal sperm head morphology |
ORPHA:320391 |
| Spondylometaphyseal Dysplasia, Axial |
|
Reduced sperm motility |
OMIM:602271 |
| Arachnoid Cyst |
|
Mydriasis |
ORPHA:2356 |
| X-Linked Recessive Ocular Albinism |
|
Abnormal pupil morphology, Iris hypopigmentation, Astigmatism, Ocular albinism |
ORPHA:54 |
| Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Mydriasis |
OMIM:613834 |
| Woolly Hair Nevus |
|
Heterochromia iridis, Persistent pupillary membrane |
ORPHA:79414 |
| Ciliary Dyskinesia With Defective Radial Spokes |
|
Immotile sperm |
OMIM:242670 |
| Ciliary Dyskinesia, Primary, 11 |
|
Reduced sperm motility |
OMIM:612649 |
| Woolly Hair |
|
Abnormal pupil morphology, Cataract |
ORPHA:170 |
| Ciliary Dyskinesia, Primary, 15 |
|
Infertility, Immotile sperm |
OMIM:613808 |
| Ring Chromosome Y Syndrome |
|
Abnormal spermatogenesis, Azoospermia, Male hypogonadism, Female infertility, Male infertility, S... |
ORPHA:261529 |
| Alternating Hemiplegia Of Childhood |
|
Mydriasis |
ORPHA:2131 |
| Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Leukocoria, Posterior synechiae of the anterior chamber, Uveitis, Microcornea, Buphthalmos, Iris ... |
OMIM:221900 |
| Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:619607 |
| Ciliary Dyskinesia, Primary, 9 |
|
Male infertility |
OMIM:612444 |
| Ophthalmoplegia, Familial Static |
|
Anisocoria |
OMIM:165000 |
| Bickerstaff Brainstem Encephalitis |
|
Anisocoria, Mydriasis |
ORPHA:79138 |
| Ciliary Dyskinesia, Primary, 22 |
|
Infertility, Reduced sperm motility |
OMIM:615444 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Mydriasis |
OMIM:619351 |
| Coats Disease |
|
Leukocoria |
OMIM:300216 |
| Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Male infertility |
ORPHA:2239 |
| Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Reduced sperm motility |
OMIM:615434 |
| Cocaine Intoxication |
|
Mydriasis |
ORPHA:90068 |
| Short Syndrome |
|
Abnormal pupil morphology, Megalocornea, Posterior embryotoxon, Hypoplasia of the iris, Corneal o... |
ORPHA:3163 |
| Alexander Disease |
|
Microcoria |
OMIM:203450 |
| Proteus-Like Syndrome |
|
Abnormal pupil morphology, Limbal dermoid, Cataract, Heterochromia iridis, Hyperostosis |
ORPHA:2969 |
| Scorpion Envenomation |
|
Miosis, Mydriasis |
ORPHA:466677 |
| Norrie Disease |
|
Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior chamber, Cataract, Corneal opac... |
OMIM:310600 |
| Hirschsprung Disease-Ganglioneuroblastoma Syndrome |
|
Abnormal pupil morphology |
ORPHA:2151 |
| Phacoanaphylactic Uveitis |
|
Corneal keratic precipitates, Abnormal pupil morphology, Posterior synechiae of the anterior cham... |
ORPHA:209959 |
| Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Reduced progressive sperm motility |
OMIM:619608 |
| Ciliary Dyskinesia, Primary, 19 |
|
Male infertility |
OMIM:614935 |
| Hec Syndrome |
|
Abnormal pupil morphology, Developmental cataract |
ORPHA:2119 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Hypertrophic cardiomyopat... |
OMIM:618052 |
| Aniridia 1 |
|
Corneal erosion, Hypoplasia of the iris, Corneal neovascularization, Anterior subcapsular catarac... |
OMIM:106210 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 17 |
|
Anisocoria |
OMIM:300858 |
| Classic Galactosemia |
|
Decreased fertility in females, Primary amenorrhea, Secondary amenorrhea, Premature ovarian insuf... |
ORPHA:79239 |
| Triopia |
|
Abnormal pupil morphology, Iris coloboma, Microcornea |
ORPHA:3374 |
| Ciliary Dyskinesia, Primary, 5 |
|
Reduced sperm motility |
OMIM:608647 |
| Familial Dysautonomia |
|
Abnormal pupil morphology, Corneal erosion, Recurrent fractures, Osteolysis, Heterochromia iridis... |
ORPHA:1764 |
| Axenfeld-Rieger Syndrome, Type 3 |
|
Posterior synechiae of the anterior chamber, Hypoplasia of the iris, Posterior embryotoxon, Ectop... |
OMIM:602482 |
| Plague |
|
Arthritis, Mydriasis, Conjunctival hyperemia |
ORPHA:707 |
| Androgen Insensitivity Syndrome |
|
Male infertility |
ORPHA:754 |
| Axenfeld-Rieger Syndrome, Type 1 |
|
Megalocornea, Rieger anomaly, Posterior embryotoxon, Abnormally prominent line of Schwalbe, Hypop... |
OMIM:180500 |
| Chromosome 16Q12 Duplication Syndrome |
|
Anisocoria, Cataract |
OMIM:619649 |
| Persistent Hyperplastic Primary Vitreous |
|
Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow anterior chamber, Cataract,... |
ORPHA:91495 |
| Charcot-Marie-Tooth Disease Type 1E |
|
Abnormal pupil morphology, Joint contracture of the hand, Slow pupillary light response, Tonic pu... |
ORPHA:90658 |
| Duane Retraction Syndrome |
|
Abnormal pupil morphology, Central heterochromia, Camptodactyly, Microcornea, Hypoplastic iris st... |
ORPHA:233 |
| Lead Poisoning |
|
Decreased female libido, Infertility, Abnormality of the menstrual cycle, Reduced sperm motility,... |
ORPHA:330015 |
| Oculopalatocerebral Syndrome |
|
Leukocoria |
OMIM:257910 |
| Trisomy 9P |
|
Abnormal pupil morphology |
ORPHA:236 |
| Primary Ciliary Dyskinesia |
|
Female infertility, Male infertility, Abnormal sperm motility |
ORPHA:244 |
| 47,Xyy Syndrome |
|
Oligospermia, Male infertility, Azoospermia |
ORPHA:8 |
| Distal Monosomy 6P |
|
Posterior embryotoxon, Hypoplasia of the iris, Anterior synechiae of the anterior chamber, Cornea... |
ORPHA:96125 |
| Congenital Tricuspid Valve Dysplasia |
|
Patent foramen ovale, Cardiomegaly, Pericardial effusion, Abnormal tricuspid valve leaflet morpho... |
ORPHA:555874 |
| Alagille Syndrome |
|
Abnormal pupil morphology, Corneal dystrophy, Keratoconus |
ORPHA:52 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Buphthalmos, Cataract, Peters anomaly, Persistent pupillary membrane, Congenital contracture |
OMIM:613150 |
| Cutis Marmorata Telangiectatica Congenita |
|
Leukocoria |
OMIM:219250 |
| Complete Androgen Insensitivity Syndrome |
|
Male infertility, Primary amenorrhea |
ORPHA:99429 |
| Partial Androgen Insensitivity Syndrome |
|
Male infertility, Azoospermia, Male sexual dysfunction, Primary amenorrhea |
ORPHA:90797 |
| Ciliary Dyskinesia, Primary, 1 |
|
Male infertility |
OMIM:244400 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Cataract, Persistent pupillary membrane, Microcornea |
OMIM:257850 |
| Intellectual Disability-Alacrima-Achalasia Syndrome |
|
Anisocoria |
ORPHA:289483 |
| Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Astigmatism, Cataract, Ectopia pupillae |
OMIM:618727 |
| Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Ectopia pupillae, Sclerocornea, Cataract, Microcornea |
OMIM:615877 |
| Oculo-Palato-Cerebral Syndrome |
|
Leukocoria, Cataract, Joint hypermobility |
ORPHA:2714 |
| Aromatase Deficiency |
|
Female infertility, Male infertility, Hypergonadotropic hypogonadism, Primary amenorrhea |
ORPHA:91 |
| Knobloch Syndrome 1 |
|
Iris transillumination defect, Slow pupillary light response, Developmental cataract, Joint hyper... |
OMIM:267750 |
| Cutis Marmorata Telangiectatica Congenita |
|
Leukocoria, Reduced bone mineral density |
ORPHA:1556 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Abnormal pupil morphology, Lentiglobus, Recurrent fractures, Osteomalacia, Arthritis, Buphthalmos... |
ORPHA:534 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Decreased fertility, Irregular menstruation, Male hypogonadism, Male infertility, Primary amenorrhea |
ORPHA:90793 |
| Nephronophthisis 11 |
|
Anisocoria |
OMIM:613550 |
| Pierson Syndrome |
|
Microcoria, Rieger anomaly, Hypoplasia of the ciliary body, Hypoplasia of the iris, Uveal ectropi... |
OMIM:609049 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Oligospermia, Male infertility, Hypogonadism |
ORPHA:85450 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Lens subluxation, Corneal opacity, Ectopia pupillae |
ORPHA:85167 |
| Revesz Syndrome |
|
Leukocoria, Megalocornea |
OMIM:268130 |
| Fanconi Anemia, Complementation Group A |
|
Male infertility, Hypergonadotropic hypogonadism |
OMIM:227650 |
| Achalasia-Addisonianism-Alacrima Syndrome |
|
Anisocoria |
OMIM:231550 |
| Trichinellosis |
|
Anisocoria, Abnormal uvea morphology, Conjunctival hyperemia, Conjunctivitis |
ORPHA:863 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Reduced sperm motility |
ORPHA:730 |
| Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Contracture of the proximal interphalangeal joint of the 4th finger, Contracture of the proximal ... |
OMIM:618223 |
| Charcot-Marie-Tooth Disease Type 4C |
|
Anisocoria, Abnormal pupillary light reflex |
ORPHA:99949 |
| Norrie Disease |
|
Abnormal pupil morphology, Hypoplasia of the iris, Anterior chamber synechiae, Abnormal chorioret... |
ORPHA:649 |
| Alacrima, Achalasia, And Impaired Intellectual Development Syndrome |
|
Anisocoria |
OMIM:615510 |
| Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Hypoplasia of the iris, Polycoria, Corneal neovascularization, Developmental cataract, Microcorne... |
OMIM:175780 |
| Scalp-Ear-Nipple Syndrome |
|
Anisocoria, Iris coloboma, Developmental cataract, Cataract |
OMIM:181270 |
| Retinoblastoma |
|
Leukocoria, Heterochromia iridis, Hypopyon, Uveitis |
ORPHA:790 |
| 46,Xy Partial Gonadal Dysgenesis |
|
Decreased fertility in females, Azoospermia, Male infertility, Hypergonadotropic hypogonadism, Pr... |
ORPHA:251510 |
| Wolf-Hirschhorn Syndrome |
|
Vertebral fusion, Rieger anomaly, Radioulnar synostosis, Iris coloboma, Abnormal sternal ossifica... |
OMIM:194190 |
| Bloom Syndrome |
|
Premature ovarian insufficiency, Oligospermia, Male infertility, Azoospermia |
ORPHA:125 |
| Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Anisocoria |
OMIM:618653 |
| Superficial Siderosis |
|
Anisocoria |
ORPHA:247245 |
| Sponastrime Dysplasia |
|
Microcoria, Generalized joint laxity, Ivory epiphyses of the phalanges of the hand, Joint laxity,... |
ORPHA:93357 |
| Retinoblastoma |
|
Leukocoria |
OMIM:180200 |
| 45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Streak ovary, Male infertility, Azoospermia, Chordee |
ORPHA:1772 |
| Renal Cysts And Diabetes Syndrome |
|
Reduced sperm motility |
OMIM:137920 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Abnormal pupil morphology, Flexion contracture, Camptodactyly, Axenfeld anomaly, Microcornea, Ast... |
ORPHA:261552 |
| Cystic Fibrosis |
|
Male infertility |
OMIM:219700 |
| Witteveen-Kolk Syndrome |
|
Joint laxity, Iris coloboma, Cataract, Anisocoria, Contracture of the distal interphalangeal join... |
OMIM:613406 |
| Mowat-Wilson Syndrome |
|
Microcornea, Iris coloboma, Cataract, Chorioretinal coloboma, Ectopia pupillae |
OMIM:235730 |
| Vascular Ehlers-Danlos Syndrome |
|
Abnormal pupil morphology, Osteolysis, Joint hyperflexibility, Keratoconus, Osteoarthritis |
ORPHA:286 |
| Carney Complex |
|
Oligospermia, Decreased fertility in males, Abnormal sperm motility |
ORPHA:1359 |
