Exfoliation Syndrome |
|
Phakodonesis, Pigment deposition in the trabecular meshwork, Mydriasis, Iris hypoperfusion, Lens ... |
OMIM:177650 |
Foveal Hypoplasia-Presenile Cataract Syndrome |
|
Cataract, Optic atrophy |
ORPHA:2253 |
Autosomal Dominant Keratitis |
|
Coloboma, Macular hypoplasia, Limbal stem cell deficiency, Abnormal corneal limbus morphology, Co... |
ORPHA:2334 |
Uveal Melanoma |
|
Vitreous hemorrhage, Iris melanoma, Zonular cataract, Mydriasis, Abnormal fundus morphology, Cili... |
ORPHA:39044 |
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
|
Cataract, Rod-cone dystrophy |
OMIM:300719 |
Optic Atrophy 3, Autosomal Dominant |
|
Cataract, Tremor, Optic atrophy, Optic disc pallor |
OMIM:165300 |
X-Linked Retinoschisis |
|
Retinoschisis, Cataract |
ORPHA:792 |
Hypertrophic Neuropathy And Cataract |
|
Cataract |
OMIM:239900 |
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness |
|
Cataract, Chorioretinal coloboma |
OMIM:274205 |
Pupillary Membrane, Persistence Of |
|
Megalocornea, Persistent pupillary membrane, Developmental cataract |
OMIM:178900 |
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features |
|
Iris cyst, Hypoplasia of the fovea, Optic atrophy |
OMIM:620086 |
Ectopia Lentis 2, Isolated, Autosomal Recessive |
|
Ectopia lentis |
OMIM:225100 |
Ectopia Lentis 1, Isolated, Autosomal Dominant |
|
Ectopia lentis |
OMIM:129600 |
Foveal Hypoplasia 1 |
|
Presenile cataracts, Hypoplasia of the fovea |
OMIM:136520 |
Anterior Segment Dysgenesis 8 |
|
Optic nerve dysplasia, Iris transillumination defect, Persistent pupillary membrane, Hypoplasia o... |
OMIM:617319 |
Hereditary Hyperferritinemia-Cataract Syndrome |
|
Cataract |
ORPHA:163 |
Cataract 35 |
|
Cataract |
OMIM:609376 |
Cataract 36 |
|
Cataract |
OMIM:613887 |
Cataract 29 |
|
Cataract |
OMIM:115800 |
Cataract And Congenital Ichthyosis |
|
Cataract |
OMIM:212400 |
Iris Pigment Epithelium Anomalies |
|
Iris cyst |
OMIM:601616 |
Aniridia 3 |
|
Cataract |
OMIM:617142 |
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract |
|
Retinal atrophy, Iris coloboma, Posterior synechiae of the anterior chamber, Developmental cataract |
OMIM:616722 |
Cochleosaccular Degeneration With Progressive Cataracts |
|
Progressive cataract |
OMIM:120040 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Microcoria, Iris coloboma, Optic pit, Chorioretinal coloboma |
OMIM:616428 |
Megalocornea |
|
Mosaic corneal dystrophy, Megalocornea, Corneal arcus, Decreased corneal thickness, Iris transill... |
OMIM:309300 |
Wagner Vitreoretinopathy |
|
Retinal pigment epithelial atrophy, Exudative vitreoretinopathy, Optic atrophy, Vitreoretinopathy... |
OMIM:143200 |
Aniridia 1 |
|
Ectopia pupillae, Corneal erosion, Retinal vascular tortuosity, Hypoplasia of the iris, Corneal n... |
OMIM:106210 |
Iris Pigment Layer, Cleavage Of |
|
Peripheral retinal detachment, Cataract |
OMIM:147610 |
Hydrocephaly-Cerebellar Agenesis Syndrome |
|
Cataract |
ORPHA:1397 |
Coats Disease |
|
Abnormal macular morphology, Aplasia/Hypoplasia of the iris, Cataract, Retinal detachment, Abnorm... |
ORPHA:190 |
Anterior Segment Dysgenesis 6 |
|
Developmental glaucoma, Posterior synechiae of the anterior chamber, Abnormal Descemet membrane m... |
OMIM:617315 |
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome |
|
Cataract |
ORPHA:73245 |
Bardet-Biedl Syndrome 18 |
|
Retinal dystrophy, Rod-cone dystrophy, Cataract |
OMIM:615995 |
Idiopathic Anterior Uveitis |
|
Macular edema, Posterior synechiae of the anterior chamber, Posterior subcapsular cataract, Nucle... |
ORPHA:280914 |
Spastic Ataxia-Corneal Dystrophy Syndrome |
|
Developmental cataract, Corneal dystrophy, Optic atrophy |
ORPHA:2572 |
Ectopia Lentis Et Pupillae |
|
Iris transillumination defect, Ectopia lentis, Cataract, Ectopia pupillae, Retinal detachment, Pe... |
OMIM:225200 |
Retinitis Pigmentosa 40 |
|
Cataract, Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blo... |
OMIM:613801 |
Glaucoma 3, Primary Congenital, E |
|
Megalocornea, Corneal stromal edema, Increased cup-to-disc ratio |
OMIM:617272 |
Anterior Segment Dysgenesis 5 |
|
Rieger anomaly, Posterior embryotoxon, Hypoplasia of the iris, Anterior synechiae of the anterior... |
OMIM:604229 |
Limbal Stem Cell Deficiency |
|
Opacification of the corneal epithelium, Generalized opacification of the cornea, Blepharospasm, ... |
ORPHA:171673 |
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy |
|
Sudden cardiac death, Juvenile cataract, Arrhythmia |
OMIM:212500 |
Intermediate Uveitis |
|
Macular edema, Vitreous haze, Posterior synechiae of the anterior chamber, Vitreous floaters, Vas... |
ORPHA:279914 |
Central Retinal Vein Occlusion |
|
Abnormal anterior eye segment morphology, Macular edema, Retinal vascular tortuosity, Macular deg... |
ORPHA:411527 |
Exudative Vitreoretinopathy 6 |
|
Exudative vitreoretinopathy, Posterior vitreous detachment, Cataract, Chorioretinal atrophy, Reti... |
OMIM:616468 |
Nathalie Syndrome |
|
Cataract, Arrhythmia |
ORPHA:2663 |
Vernal Keratoconjunctivitis |
|
Abnormal conjunctiva morphology, Abnormal cornea morphology, Punctate keratitis, Corneal neovascu... |
ORPHA:70476 |
X-Linked Corneal Dermoid |
|
Abnormal pupil morphology, Corneal opacity |
ORPHA:1661 |
Birdshot Chorioretinopathy |
|
Retinal thinning, Abnormal choroid morphology, Vitritis, Vitreous floaters, Choroidal neovascular... |
ORPHA:179 |
Glaucoma, Primary Closed-Angle |
|
Anterior synechiae of the anterior chamber, Increased cup-to-disc ratio |
OMIM:618880 |
Aldh18A1-Related De Barsy Syndrome |
|
Cataract |
ORPHA:35664 |
Cone-Rod Dystrophy 16 |
|
Rod-cone dystrophy, Cone/cone-rod dystrophy, Macular atrophy, Bone spicule pigmentation of the re... |
OMIM:614500 |
Microphthalmia, Isolated, With Cataract 1 |
|
Cataract, Miosis |
OMIM:156850 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Hypertrophic cardiomyopathy, Cataract |
ORPHA:79281 |
Aniridia 2 |
|
Optic atrophy, Lens subluxation, Cataract, Iris coloboma, Aniridia |
OMIM:617141 |
Spastic Paraparesis And Deafness |
|
Cataract, Tremor |
OMIM:312910 |
Cataract 42 |
|
Cataract, Developmental cataract |
OMIM:115900 |
Acute Zonal Occult Outer Retinopathy |
|
Retinal pigment epithelial atrophy, Macular drusen, Rod-cone dystrophy, Abnormal choroid morpholo... |
ORPHA:284454 |
Idiopathic Panuveitis |
|
Vitreous haze, Posterior synechiae of the anterior chamber, Vitreous floaters, Choroidal neovascu... |
ORPHA:280921 |
Corneal Dystrophy, Groenouw Type I |
|
Granular corneal dystrophy, Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy |
OMIM:121900 |
Tietz Albinism-Deafness Syndrome |
|
Generalized hypopigmentation, White eyelashes, White eyebrow, Heterochromia iridis, Blue irides |
OMIM:103500 |
Waardenburg Syndrome, Type 2F |
|
Hypopigmentation of the skin, Cafe-au-lait spot, Premature graying of hair, White forelock, Heter... |
OMIM:619947 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Retinal fold, Leukocoria, Posterior synechiae of the anterior chamber, Uveitis, Microcornea, Buph... |
OMIM:221900 |
Retinitis Pigmentosa 9 |
|
Rod-cone dystrophy, Macular edema, Macular atrophy, Bone spicule pigmentation of the retina, Cata... |
OMIM:180104 |
Leg, Absence Deformity Of, With Congenital Cataract |
|
Optic nerve dysplasia, Progressive cataract, Developmental cataract |
OMIM:246000 |
Stickler Syndrome Type 2 |
|
Retinopathy, Cataract, Corneal opacity, Retinal detachment, Abnormal vitreous humor morphology |
ORPHA:90654 |
Cataract 21, Multiple Types |
|
Cortical pulverulent cataract, Macular hypoplasia, Cerulean cataract, Microcornea, Iris coloboma,... |
OMIM:610202 |
Retinitis Pigmentosa 84 |
|
Rod-cone dystrophy, Macular atrophy, Bone spicule pigmentation of the retina, Attenuation of reti... |
OMIM:618220 |
Microphthalmia, Isolated 5 |
|
Retinal pigment epithelial atrophy, Optic disc drusen, Foveoschisis, Bone spicule pigmentation of... |
OMIM:611040 |
Severe Early-Childhood-Onset Retinal Dystrophy |
|
Retinal pigment epithelial atrophy, Optic disc drusen, Abnormal macular morphology, Posterior syn... |
ORPHA:364055 |
Leber Hereditary Optic Neuropathy, Modifier Of |
|
Leber optic atrophy, Optic atrophy |
OMIM:308905 |
Trichomegaly |
|
Cataract |
OMIM:190330 |
Familial Exudative Vitreoretinopathy |
|
Macular exudate, Vitreous hemorrhage, Tractional retinal detachment, Macular edema, Falciform ret... |
ORPHA:891 |
Cataract-Microcornea Syndrome |
|
Microcornea, Cataract, Iris coloboma, Corneal opacity, Corneal dystrophy |
ORPHA:1377 |
Peters Anomaly |
|
Developmental glaucoma, Central opacification of the cornea, Anterior synechiae of the anterior c... |
ORPHA:708 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Lattice retinal degeneration, Peripheral vitreoretinal degeneration, Vitreous floaters, Cataract,... |
OMIM:614292 |
Anterior Segment Dysgenesis 7 |
|
Ocular anterior segment dysgenesis, Anterior synechiae of the anterior chamber, Microcornea, Buph... |
OMIM:269400 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Posterior embryotoxon, Optic atrophy, Cataract, Iris coloboma, Corneal opacity, Chorioretinal col... |
ORPHA:1473 |
Cataract 12, Multiple Types |
|
Progressive cataract, Developmental cataract |
OMIM:611597 |
Leber Congenital Amaurosis 2 |
|
Attenuation of retinal blood vessels, Cataract, Keratoconus, Fundus atrophy, Optic disc pallor, P... |
OMIM:204100 |
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma |
|
Megalocornea, Deep anterior chamber, Ectopia lentis, Microspherophakia, Iridodonesis |
OMIM:251750 |
Dilution, Pigmentary |
|
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair |
OMIM:126070 |
Anterior Segment Dysgenesis 2 |
|
Coloboma, Posterior synechiae of the anterior chamber, Aniridia, Microcornea, Cataract, Peters an... |
OMIM:610256 |
Griscelli Syndrome Type 3 |
|
Hypopigmentation of hair, Iris hypopigmentation, Partial albinism |
ORPHA:79478 |
Leber Congenital Amaurosis 4 |
|
Cone/cone-rod dystrophy, Macular atrophy, Attenuation of retinal blood vessels, Keratoconus, Opti... |
OMIM:604393 |
Cortical Dysplasia, Complex, With Other Brain Malformations 4 |
|
Cataract |
OMIM:615412 |
Spastic Ataxia 7, Autosomal Dominant |
|
Congenital miosis, Optic atrophy |
OMIM:108650 |
Woolly Hair |
|
Abnormal pupil morphology, Cataract, Abnormal retinal morphology |
ORPHA:170 |
Retinitis Pigmentosa 4 |
|
Rod-cone dystrophy, Retinal atrophy, Bone spicule pigmentation of the retina, Attenuation of reti... |
OMIM:613731 |
Posterior Polymorphous Corneal Dystrophy |
|
Reduced number of corneal endothelial cells, Anterior synechiae of the anterior chamber, Abnormal... |
ORPHA:98973 |
Waardenburg Syndrome, Type 2B |
|
White forelock, Heterochromia iridis, Premature graying of hair |
OMIM:600193 |
Anterior Segment Dysgenesis 3 |
|
Rieger anomaly, Posterior embryotoxon, Axenfeld anomaly, Hypoplastic iris stroma, Peters anomaly,... |
OMIM:601631 |
Myopia 17, Autosomal Dominant |
|
Presenile cataracts, Retinal hole |
OMIM:608367 |
Vitreoretinal Degeneration, Snowflake Type |
|
Retinal dots, Corneal guttata, Snowflake vitreoretinal degeneration, Cataract, Optically empty vi... |
OMIM:193230 |
Exudative Vitreoretinopathy 1 |
|
Exudative vitreoretinopathy, Vitreous hemorrhage, Falciform retinal fold, Posterior vitreous deta... |
OMIM:133780 |
Aniridia-Intellectual Disability Syndrome |
|
Cataract, Ectopia lentis, Aniridia, Optic nerve hypoplasia |
ORPHA:1068 |
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1 |
|
Cataract, Rod-cone dystrophy, Microcornea |
OMIM:619082 |
Optic Atrophy 2 |
|
Tremor, Optic atrophy |
OMIM:311050 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Exudative vitreoretinopathy, Intraretinal exudate, Retinal fold, Retinal hole, Falciform retinal ... |
OMIM:305390 |
Phacoanaphylactic Uveitis |
|
Retinal arteritis, Vitreoretinopathy, Cystoid macular edema, Anterior chamber flare grade 1+, Abn... |
ORPHA:209959 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane |
ORPHA:1067 |
Olivopontocerebellar Atrophy-Deafness Syndrome |
|
Chorioretinal coloboma, Optic atrophy |
ORPHA:2732 |
Norrie Disease |
|
Retinal fold, Optic atrophy, Leukocoria, Hypoplasia of the iris, Retinal dysplasia, Buphthalmos, ... |
OMIM:310600 |
Oculoauricular Syndrome |
|
Morning glory anomaly, Rod-cone dystrophy, Posterior embryotoxon, Cone/cone-rod dystrophy, Macula... |
OMIM:612109 |
Galactosemia Iv |
|
Cataract |
OMIM:618881 |
Iridocorneal Endothelial Syndrome |
|
Abnormal migration of corneal endothelium, Central heterochromia, Posterior synechiae of the ante... |
ORPHA:64734 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Cataract, Iris coloboma, Chorioretinal coloboma |
OMIM:120433 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Neural tube defect |
OMIM:615041 |
Leber Congenital Amaurosis 6 |
|
Cataract, Keratoconus, Attenuation of retinal blood vessels |
OMIM:613826 |
Auditory Neuropathy And Optic Atrophy |
|
Rod-cone dystrophy, Optic atrophy |
OMIM:617717 |
Autosomal Recessive Ataxia Due To Pex10 Deficiency |
|
Motor axonal neuropathy, Mydriasis |
ORPHA:247815 |
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive |
|
Increased circulating interleukin 6 concentration, Decreased circulating total IgM, Reduced circu... |
OMIM:618944 |
Retinitis Pigmentosa 36 |
|
Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of... |
OMIM:610599 |
Retinal Dystrophy And Obesity |
|
Retinal pigment epithelial atrophy, Peripapillary atrophy, Retinal dots, Retinal dystrophy, Atten... |
OMIM:616188 |
Retinitis Pigmentosa 13 |
|
Rod-cone dystrophy, Optic disc drusen, Asteroid hyalosis, Retinal degeneration, Bone spicule pigm... |
OMIM:600059 |
Myopia 28, Autosomal Recessive |
|
Retinal detachment, Cataract |
OMIM:619781 |
Retinitis Pigmentosa 30 |
|
Rod-cone dystrophy, Optic atrophy, Bone spicule pigmentation of the retina, Attenuation of retina... |
OMIM:607921 |
Uncombable Hair Syndrome 2 |
|
Juvenile cataract |
OMIM:617251 |
Weill-Marchesani Syndrome 4 |
|
Phakodonesis, Posterior synechiae of the anterior chamber, Ectopia lentis, Shallow anterior chamb... |
OMIM:613195 |
Spinocerebellar Ataxia, Autosomal Recessive 24 |
|
Cataract |
OMIM:617133 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Retinal fold, Retinal dystrophy, Abnormality of retinal pigmentation, Cataract, Chorioretinal dys... |
OMIM:251270 |
Iatrogenic Botulism |
|
Orthostatic hypotension, Mydriasis |
ORPHA:254509 |
Intestinal Botulism |
|
Mydriasis |
ORPHA:178481 |
Toxin-Mediated Infectious Botulism |
|
Mydriasis |
ORPHA:230800 |
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Cataract, Developmental cataract |
OMIM:613076 |
Leber Congenital Amaurosis 13 |
|
Retinal dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of ret... |
OMIM:612712 |
Retinitis Pigmentosa 86 |
|
Retinal pigment epithelial atrophy, Bone spicule pigmentation of the retina, Attenuation of retin... |
OMIM:618613 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired Ig class switch recombination, Decreased circulating IgE, Decreased circulating IgA leve... |
OMIM:606843 |
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome |
|
Tremor, Heterochromia iridis, Premature graying of hair |
ORPHA:66633 |
Spina Bifida-Hypospadias Syndrome |
|
Spina bifida, Spinal dysraphism |
ORPHA:3176 |
Cataract 9, Multiple Types |
|
Developmental cataract, Microcornea, Cataract, Iris coloboma, Progressive cataract |
OMIM:604219 |
Retinitis Pigmentosa 46 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Posterior subcapsular cataract, Optic d... |
OMIM:612572 |
Oculocutaneous Albinism, Type Viii |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Chorioretinal hypopigmentation, Iris tran... |
OMIM:619165 |
Dysequilibrium Syndrome |
|
Cataract |
ORPHA:1766 |
Hec Syndrome |
|
Abnormal pupil morphology, Abnormal retinal vascular morphology, Developmental cataract, Arrhythm... |
ORPHA:2119 |
Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Anterior synechiae of the anterior chamber, Uveal ectropion, Abnormal Descemet membrane morpholog... |
OMIM:122000 |
Waardenburg Syndrome, Type 4B |
|
Premature graying of hair, White eyelashes, White eyebrow, Hypopigmented skin patches, White fore... |
OMIM:613265 |
Leber Congenital Amaurosis 16 |
|
Cataract, Optic disc pallor |
OMIM:614186 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Iris coloboma, Cataract |
OMIM:610092 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4 |
|
Mydriasis |
OMIM:619365 |
Charcot-Marie-Tooth Disease Type 1B |
|
Abnormal pupil morphology, Peripheral dysmyelination, Decreased nerve conduction velocity, Periph... |
ORPHA:101082 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Cataract |
OMIM:619813 |
Eales Disease |
|
Vitreous hemorrhage, Tractional retinal detachment, Macular edema, Vitreous haze, Vitritis, Retin... |
ORPHA:40923 |
Galactosemia Ii |
|
Cataract |
OMIM:230200 |
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
|
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Retinal dystrophy, Bone spicule pigmentat... |
OMIM:616108 |
Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures |
|
Optic disc pallor, Cerulean cataract |
OMIM:616732 |
Yemenite Deaf-Blind Hypopigmentation Syndrome |
|
Iris coloboma, Chorioretinal coloboma, Microcornea |
OMIM:601706 |
Adult-Onset Foveomacular Vitelliform Dystrophy |
|
Iris hypopigmentation, Retinal nonattachment, Vitelliform-like macular lesions, Choroideremia |
ORPHA:99000 |
Wound Botulism |
|
Cardiac arrest, Mydriasis |
ORPHA:178475 |
Albinism, Oculocutaneous, Type Iv |
|
Albinism, Hypopigmentation of hair, Blue irides |
OMIM:606574 |
Isolated Aniridia |
|
Aplasia/Hypoplasia of the macula, Peters anomaly, Aniridia, Cataract |
ORPHA:250923 |
Oculocutaneous Albinism Type 6 |
|
Aplasia/Hypoplasia of the macula, Abnormal fundus morphology, Abnormal foveal morphology on macul... |
ORPHA:370097 |
X-Linked Recessive Ocular Albinism |
|
Abnormal pupil morphology, Abnormal macular morphology, Ocular albinism, Iris hypopigmentation, A... |
ORPHA:54 |
Chromosome 16Q12 Duplication Syndrome |
|
Anisocoria, Temporal optic disc pallor, Retinal pigment epithelial mottling, Cataract |
OMIM:619649 |
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Ocular anterior segment dysgenesis, Hypoplasia of the iris, Anterior synechiae of the anterior ch... |
OMIM:614195 |
Optic Atrophy 13 With Retinal And Foveal Abnormalities |
|
Attenuation of retinal blood vessels, Optic atrophy |
OMIM:165510 |
Vitreoretinochoroidopathy |
|
Retinal arteriolar constriction, Vitreous hemorrhage, Retinal arteriolar occlusion, Pulverulent c... |
OMIM:193220 |
Coats Disease |
|
Exudative retinal detachment, Leukocoria, Retinal telangiectasia |
OMIM:300216 |
Bilateral Acute Depigmentation Of The Iris |
|
Abnormal iris pigmentation, Pigment deposition in the trabecular meshwork, Iris pigment dispersio... |
ORPHA:69736 |
Isolated Optic Nerve Hypoplasia/Aplasia |
|
Pseudopapilledema, Aplasia/Hypoplasia of the iris, Optic disc hypoplasia, Optic nerve hypoplasia,... |
ORPHA:137902 |
Morning Glory Disc Anomaly |
|
Retinal detachment, Cataract, Optic disc coloboma, Abnormality of retinal pigmentation |
ORPHA:35737 |
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Dominant |
|
Optic atrophy |
OMIM:165199 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Corneal scarring, Retinal dystrophy, Macular atrophy, Buphthalmos, Cataract, Iris coloboma, Chori... |
OMIM:212550 |
Chorea, Remitting, With Nystagmus And Cataract |
|
Cataract |
OMIM:601372 |
Hypoalphalipoproteinemia, Primary, 2 |
|
Cataract, Corneal arcus |
OMIM:618463 |
Xeroderma Pigmentosum, Complementation Group D |
|
Conjunctivitis, Telangiectasia, Choreoathetosis, Keratoconjunctivitis sicca, Corneal neovasculari... |
OMIM:278730 |
Juvenile Glaucoma |
|
Temporal optic disc pallor, Retinal arterial occlusion, Optic neuropathy, Abnormal optic nerve mo... |
ORPHA:98977 |
Leber Congenital Amaurosis |
|
Keratoconus, Cataract, Abnormal optic disc morphology, Abnormality of retinal pigmentation |
ORPHA:65 |
Cone-Rod Dystrophy, X-Linked, 3 |
|
Cone/cone-rod dystrophy, Astigmatism, Retinal detachment, Absent foveal reflex, Optic disc pallor... |
OMIM:300476 |
Atopic Keratoconjunctivitis |
|
Keratoconjunctivitis sicca, Corneal neovascularization, Corneal opacity, Chemosis, Keratitis |
ORPHA:163934 |
Leber Congenital Amaurosis 8 |
|
Choriocapillaris atrophy, Cataract, Chorioretinal atrophy, Keratoconus, Macular coloboma, Pigment... |
OMIM:613835 |
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts |
|
Cataract, Retinopathy |
OMIM:183800 |
Optic Atrophy 9 |
|
Optic disc pallor, Optic atrophy |
OMIM:616289 |
Optic Atrophy--Spastic Paraplegia Syndrome |
|
Optic atrophy |
OMIM:311100 |
Amoebic Keratitis |
|
Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal stromal ede... |
ORPHA:67043 |
Nathalie Syndrome |
|
Cataract, Abnormal EKG |
OMIM:255990 |
Retinitis Pigmentosa 10 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... |
OMIM:180105 |
Retinitis Pigmentosa 25 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... |
OMIM:602772 |
Oliver-Mcfarlane Syndrome |
|
Alopecia, Central heterochromia, Small for gestational age, Long eyebrows, Long eyelashes, Sparse... |
OMIM:275400 |
Optic Atrophy 5 |
|
Optic atrophy |
OMIM:610708 |
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Retinal dystrophy, Cataract |
OMIM:610156 |
Morm Syndrome |
|
Retinal atrophy, Retinal dystrophy, Cataract |
ORPHA:75858 |
Ceroid Lipofuscinosis, Neuronal, 3 |
|
Rod-cone dystrophy, Optic atrophy, Concentric hypertrophic cardiomyopathy, Retinal degeneration, ... |
OMIM:204200 |
Immunodeficiency, Common Variable, 11 |
|
Failure to thrive, Increased circulating IgE level, Decreased circulating IgG level |
OMIM:615767 |
Spastic Paraparesis-Deafness Syndrome |
|
Cataract |
ORPHA:2815 |
Stickler Syndrome, Type V |
|
Retinal detachment, Cataract, Vitreoretinopathy |
OMIM:614284 |
Inhalational Botulism |
|
Mydriasis |
ORPHA:254504 |
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness |
|
Optic atrophy |
OMIM:136600 |
Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
Leber Congenital Amaurosis 1 |
|
Optic disc drusen, Attenuation of retinal blood vessels, Cataract, Fundus atrophy, Keratoconus, P... |
OMIM:204000 |
Botulism |
|
Mydriasis, Arrhythmia |
ORPHA:1267 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Peripapillary atrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation... |
OMIM:618195 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Small for gestational age, Reduced antigen-specific T cell proliferation, Increased circulating I... |
OMIM:617241 |
Autosomal Recessive Spastic Paraplegia Type 69 |
|
Cataract, Hand tremor |
ORPHA:401830 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Retinopathy, Optic atrophy, Macular atrophy, Microcornea, Cataract, Optic disc pallor |
OMIM:616171 |
Upper Limb Defect-Eye And Ear Abnormalities Syndrome |
|
Cataract, Chorioretinal coloboma |
ORPHA:2489 |
Infant Botulism |
|
Hypotension, Mydriasis, Cardiac arrest, Keratoconjunctivitis sicca, Hypertension |
ORPHA:178478 |
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome |
|
Iris hypopigmentation |
ORPHA:85332 |
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome |
|
Retinal dystrophy, Microcornea, Iris coloboma, Peripheral retinal atrophy, Absent foveal reflex |
OMIM:615147 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Retinal dystrophy, Microcornea, Posterior lenticonus, Remnants of the hyaloid vascular system, Ir... |
ORPHA:231736 |
Coloboma, Ocular, Autosomal Recessive |
|
Lens subluxation, Cataract, Iris coloboma, Optic disc coloboma, Retinal coloboma |
OMIM:216820 |
Late-Onset Retinal Degeneration |
|
Abnormal anterior eye segment morphology, Abnormal suspensory ligament of lens morphology, Peripa... |
ORPHA:67042 |
Foodborne Botulism |
|
Mydriasis, Arrhythmia |
ORPHA:228371 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Optic disc pallor, Peripheral axonal neuropathy, Optic atrophy |
OMIM:617087 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Pulmonary arterial hypertension, Retinal infarction, Hypertension, Mydriasis |
OMIM:613834 |
Palmoplantar Carcinoma, Multiple Self-Healing |
|
Limbal stem cell deficiency, Corneal neovascularization |
OMIM:615225 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Optic atrophy, Posterior synechiae of the anterior chamber, Developmental cataract, Retinal dyspl... |
OMIM:613154 |
Waardenburg Syndrome, Type 2D |
|
Heterochromia iridis |
OMIM:608890 |
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency |
|
Cataract, Sensory axonal neuropathy, Optic atrophy |
ORPHA:329314 |
Retinitis Pigmentosa 56 |
|
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ... |
OMIM:613581 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Retinal hemorrhage, Peripapillary atrophy, Ischemic stroke, Cerebral hemorrhage, Limb dystonia, P... |
OMIM:175780 |
Serotonin Syndrome |
|
Hypotension, Mydriasis, Abnormality of the autonomic nervous system, Hypertension, Tremor, Tachyc... |
ORPHA:43116 |
Anencephaly 1 |
|
Spina bifida, Anencephaly |
OMIM:206500 |
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism |
|
Cataract |
OMIM:254000 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Iris hypopigmentation, Hypopigmentation of the skin, Obesity, Hypopigmentation of hair |
ORPHA:177910 |
Cherubism |
|
Macular scar, Optic neuropathy, Marcus Gunn pupil |
OMIM:118400 |
Histiocytosis, Familial Lipochrome |
|
Increased circulating antibody level, Increased alpha-globulin |
OMIM:235900 |
Vitreoretinopathy, Neovascular Inflammatory |
|
Large hyperpigmented retinal spots, Posterior retinal neovascularization, Vitreous hemorrhage, Pe... |
OMIM:193235 |
Intellectual Developmental Disorder, Autosomal Recessive 50 |
|
Heterochromia iridis |
OMIM:616460 |
Cataract 11, Multiple Types |
|
Cataract, Developmental cataract |
OMIM:610623 |
Corneal Dystrophy, Posterior Amorphous |
|
Iris coloboma, Corneal dystrophy, Ectopia pupillae |
OMIM:612868 |
Deafness, Neural, With Atypical Atopic Dermatitis |
|
Increased circulating IgE level |
OMIM:221700 |
Retinitis Pigmentosa 14 |
|
Retinal arteriolar constriction, Rod-cone dystrophy, Bone spicule pigmentation of the retina, Pos... |
OMIM:600132 |
Leber Congenital Amaurosis 9 |
|
Optic atrophy, Retinal dots, Retinal pigment epithelial mottling, Macular atrophy, Bone spicule p... |
OMIM:608553 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Keratoconjunctivitis sicca, Punctate keratitis, Corneal neovascularization, Uveitis |
OMIM:617388 |
Cataract-Nephropathy-Encephalopathy Syndrome |
|
Cataract |
ORPHA:1380 |
Retinitis Pigmentosa 2 |
|
Rod-cone dystrophy, Cataract, Chorioretinal degeneration, Fundus atrophy, Bull's eye maculopathy,... |
OMIM:312600 |
Hyperchlorhidrosis, Isolated |
|
Failure to thrive, Hyperkalemia, Hyponatremia |
OMIM:143860 |
Microcoria, Congenital |
|
Microcoria, Hypoplasia of the iris dilator muscle, Miosis |
OMIM:156600 |
2Q24 Microdeletion Syndrome |
|
Cataract, Coloboma, Abnormality iris morphology |
ORPHA:1617 |
Glaucoma 3, Primary Congenital, D |
|
Primary congenital glaucoma, Corneal opacity, Ectopia lentis |
OMIM:613086 |
Persistent Hyperplastic Primary Vitreous |
|
Retinal fold, Hemorrhage of the eye, Tractional retinal detachment, Persistent pupillary membrane... |
ORPHA:91495 |
Cutis Marmorata Telangiectatica Congenita |
|
Retinal detachment, Telangiectasia, Hypertension, Leukocoria |
OMIM:219250 |
Woolly Hair Nevus |
|
Curly hair, Patchy hypopigmentation of hair, Fine hair, Congenital posterior occipital alopecia, ... |
ORPHA:79414 |
Waardenburg Syndrome, Type 4A |
|
Premature graying of hair, White eyelashes, White eyebrow, Hypopigmented skin patches, White fore... |
OMIM:277580 |
Retinitis Pigmentosa 43 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... |
OMIM:613810 |
Immunodeficiency 25 |
|
Complete or near-complete absence of specific antibody response to tetanus vaccine, Decreased cir... |
OMIM:610163 |
Palmoplantar Keratoderma, Epidermolytic |
|
Increased circulating IgE level |
OMIM:144200 |
Exudative Vitreoretinopathy 4 |
|
Exudative vitreoretinopathy, Vitreous hemorrhage, Tractional retinal detachment, Posterior vitreo... |
OMIM:601813 |
Retinitis Pigmentosa 72 |
|
Rod-cone dystrophy, Peripapillary atrophy, Bone spicule pigmentation of the retina, Attenuation o... |
OMIM:616469 |
Ige Responsiveness, Atopic |
|
Increased circulating IgE level |
OMIM:147050 |
Leber Congenital Amaurosis 19 |
|
Retinal degeneration, Optic disc pallor, Attenuation of retinal blood vessels |
OMIM:618513 |
Glaucoma 1, Open Angle, P |
|
Increased cup-to-disc ratio |
OMIM:177700 |
Retinitis Pigmentosa 71 |
|
Rod-cone dystrophy, Optic disc drusen, Attenuation of retinal blood vessels, Perifoveal ring of h... |
OMIM:616394 |
Griscelli Syndrome Type 1 |
|
Premature graying of hair, Iris hypopigmentation, White hair, Hyperlipidemia, Partial albinism |
ORPHA:79476 |
Immunodeficiency 35 |
|
Increased circulating IgE level |
OMIM:611521 |
Maternally-Inherited Diabetes And Deafness |
|
Retinopathy, Abnormal chorioretinal morphology, Congestive heart failure, Hypertension, Hypertrop... |
ORPHA:225 |
Maturity-Onset Diabetes Of The Young, Type 11 |
|
Obesity, Overweight |
OMIM:613375 |
Waardenburg Syndrome, Type 2A |
|
Premature graying of hair, Albinism, White eyelashes, Synophrys, White eyebrow, Numerous pigmente... |
OMIM:193510 |
Methionine Malabsorption Syndrome |
|
White hair, Blue irides, Positive ferric chloride test |
OMIM:250900 |
Dwarfism With Stiff Joints And Ocular Abnormalities |
|
Retinal detachment, Cataract |
OMIM:127200 |
Microcephaly-Albinism-Digital Anomalies Syndrome |
|
Iris hypopigmentation, Hypopigmentation of the skin |
ORPHA:2513 |
Klippel-Feil Syndrome 3, Autosomal Dominant |
|
Iris coloboma, Chorioretinal coloboma |
OMIM:613702 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Cataract, Aniridia, Microcornea |
OMIM:106230 |
Intracranial Hypertension, Idiopathic |
|
Papilledema, Hypertension |
OMIM:243200 |
Peroxisome Biogenesis Disorder 9B |
|
Cataract, Rod-cone dystrophy, Cardiomyopathy |
OMIM:614879 |
Microspherophakia With Hernia |
|
Retinal detachment, Microspherophakia, Superior lens subluxation |
OMIM:157150 |
Hypotrichosis Simplex Of The Scalp |
|
Abnormal eyebrow morphology, Sparse scalp hair, Abnormality of the pubic hair, Fine hair, Slow-gr... |
ORPHA:90368 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Failure to thrive, Long eyelashes, Increased circulating IgE level |
OMIM:616069 |
Senior-Loken Syndrome |
|
Retinal dystrophy, Hypertension, Abnormality of retinal pigmentation, Cataract |
ORPHA:3156 |
Retinitis Pigmentosa 66 |
|
Posterior subcapsular cataract, Rod-cone dystrophy, Bone spicule pigmentation of the retina, Opti... |
OMIM:615233 |
Horner Syndrome, Congenital |
|
Heterochromia iridis |
OMIM:143000 |
Oculocutaneous Albinism Type 1 |
|
Generalized hypopigmentation of hair, Generalized hypopigmentation, Iris transillumination defect... |
ORPHA:352731 |
Isolated Ectopia Lentis |
|
Cataract, Ectopia lentis, Hypertension, Ectopia pupillae |
ORPHA:1885 |
Severe Combined Immunodeficiency, X-Linked |
|
Decreased circulating total IgM, Reduced natural killer cell activity, Decreased circulating IgE,... |
OMIM:300400 |
Axenfeld-Rieger Syndrome, Type 3 |
|
Posterior synechiae of the anterior chamber, Hypoplasia of the iris, Posterior embryotoxon, Ectop... |
OMIM:602482 |
Retinitis Pigmentosa 60 |
|
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ... |
OMIM:613983 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Abnormality of retinal pigmentation, Cataract, Lens subluxation, Retinal detachment, Microphakia |
ORPHA:171844 |
Osteopetrosis, Autosomal Recessive 5 |
|
Mydriasis, Optic disc pallor, Optic atrophy, Facial palsy |
OMIM:259720 |
Infantile Spasms-Broad Thumbs Syndrome |
|
Hypertrophic cardiomyopathy, Cataract, Optic disc pallor |
ORPHA:3173 |
Mucolipidosis Iv |
|
Optic atrophy, Retinal degeneration, Corneal opacity, Opacification of the corneal stroma, Dystonia |
OMIM:252650 |
Immunodeficiency 89 And Autoimmunity |
|
Reduced circulating interleukin 22 concentration, Reduced circulating interleukin 17A concentrati... |
OMIM:619632 |
Blepharoptosis-Myopia-Ectopia Lentis Syndrome |
|
Iris coloboma, Abnormality of retinal pigmentation, Ectopia lentis |
ORPHA:1259 |
3-Methylglutaconic Aciduria Type 4 |
|
Failure to thrive, Iris hypopigmentation, Cataract |
ORPHA:67048 |
Wildervanck Syndrome |
|
Lens subluxation, Pseudopapilledema, Facial palsy |
ORPHA:3456 |
Microphthalmia, Syndromic 13 |
|
Iris coloboma, Chorioretinal coloboma, Microcornea |
OMIM:300915 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Decreased serum iron, Increased circulating IgE level |
OMIM:212050 |
Anterior Segment Dysgenesis 4 |
|
Hypoplastic iris stroma, Iris hypopigmentation |
OMIM:137600 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Cataract, Rod-cone dystrophy, Retinal coloboma |
OMIM:601794 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Large for gestational age, Truncal obesity |
OMIM:240900 |
Peripheral Cone Dystrophy |
|
Cone/cone-rod dystrophy, Peripheral retinal degeneration, Optic atrophy, Optic disc pallor |
OMIM:609021 |
Phenylketonuria |
|
Generalized hypopigmentation, Fair hair, Hyperphenylalaninemia, Maternal hyperphenylalaninemia, C... |
OMIM:261600 |
Leber Congenital Amaurosis 7 |
|
Cataract, Keratoconus |
OMIM:613829 |
Retinitis Pigmentosa 57 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... |
OMIM:613582 |
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract |
|
Rod-cone dystrophy, Optic atrophy, Intention tremor, Cataract, Decreased nerve conduction velocit... |
OMIM:612674 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Cataract, Rod-cone dystrophy, Retinal coloboma |
ORPHA:363741 |
Mucoepithelial Dysplasia, Hereditary |
|
Keratoconjunctivitis, Corneal neovascularization, Cataract, Opacification of the corneal stroma, ... |
OMIM:158310 |
Bardet-Biedl Syndrome 13 |
|
Obesity, Bone spicule pigmentation of the retina |
OMIM:615990 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 |
|
Cataract |
OMIM:609115 |
Cataract 48 |
|
Cataract, Miosis |
OMIM:618415 |
Leber Hereditary Optic Neuropathy |
|
Postural tremor, Optic atrophy, Retinal vascular tortuosity, Retinal telangiectasia, Arrhythmia, ... |
ORPHA:104 |
Retinitis Pigmentosa 33 |
|
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ... |
OMIM:610359 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Increased circulating IgG level, Increased circulating IgE level |
OMIM:618982 |
Loose Anagen Syndrome |
|
Iris coloboma |
ORPHA:168 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Cataract |
OMIM:618660 |
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak |
|
Hand tremor, Hyperkalemia |
OMIM:609153 |
Kahrizi Syndrome |
|
Cataract, Iris coloboma |
OMIM:612713 |
Liberfarb Syndrome |
|
Retinal degeneration, Retinal pigment epithelial mottling, Optic disc pallor, Bone spicule pigmen... |
OMIM:618889 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Rod-cone dystrophy, Intention tremor, Cataract, Tremor, Pigmentary retinopathy |
OMIM:614307 |
Progressive Hemifacial Atrophy |
|
Irregular hyperpigmentation, Heterochromia iridis |
ORPHA:1214 |
Xeroderma Pigmentosum, Complementation Group G |
|
Cataract, Tremor |
OMIM:278780 |
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome |
|
Cataract |
ORPHA:2278 |
Albinism, Oculocutaneous, Type Ii |
|
Hypopigmentation of the skin, Albinism, Freckles in sun-exposed areas, Hypopigmentation of hair, ... |
OMIM:203200 |
Developmental And Epileptic Encephalopathy 35 |
|
Cardiomyopathy, Cataract, Limb tremor |
OMIM:616647 |
Cataract 47 |
|
Cataract, Microcornea |
OMIM:612018 |
Ocular Pigment Dispersion With Or Without Glaucoma |
|
Optic atrophy |
OMIM:600510 |
Retinitis Pigmentosa 77 |
|
Rod-cone dystrophy, Retinal atrophy, Bone spicule pigmentation of the retina, Attenuation of reti... |
OMIM:617304 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Iris hypopigmentation, Hypopigmentation of the skin, Obesity, Hypopigmentation of hair |
ORPHA:411515 |
Congenital Hydrocephalus |
|
Macular hypoplasia, Iris coloboma, Optic atrophy |
ORPHA:2185 |
Ceroid Lipofuscinosis, Neuronal, 11 |
|
Retinal dystrophy, Optic atrophy |
OMIM:614706 |
Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Posterior subcapsular cataract, Rod-cone dystrophy, Macular atrophy, Optic disc pallor |
OMIM:615434 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Failure to thrive, Increased circulating IgE level, Lack of T cell function, Abnormality of humor... |
ORPHA:277 |
Hirschsprung Disease-Ganglioneuroblastoma Syndrome |
|
Abnormal pupil morphology, Aganglionic megacolon, Prolonged QT interval, Arrhythmia |
ORPHA:2151 |
Spastic Paraplegia 74, Autosomal Recessive |
|
Peripheral axonal neuropathy, Optic atrophy |
OMIM:616451 |
Craniotubular Dysplasia, Ikegawa Type |
|
Optic neuropathy, Mydriasis, Optic nerve compression, Optic atrophy |
OMIM:619727 |
Gyrate Atrophy Of Choroid And Retina |
|
Abnormal macular morphology, Chorioretinal hyperpigmentation, Cataract, Chorioretinal atrophy, Ch... |
ORPHA:414 |
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness |
|
Cataract, Retinal thinning, Asteroid hyalosis |
OMIM:132450 |
Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Increased circulating IgE level, Nail dystrophy |
ORPHA:89843 |
Oculopalatocerebral Syndrome |
|
Leukocoria, Remnants of the hyaloid vascular system |
OMIM:257910 |
Cardiomyopathy, Dilated, 1Ii |
|
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Cataract, Ventricular ta... |
OMIM:615184 |
Retinitis Pigmentosa 83 |
|
Rod-cone dystrophy, Asteroid hyalosis, Vitreous floaters, Bone spicule pigmentation of the retina... |
OMIM:618173 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type |
|
Cataract |
OMIM:300261 |
Myopathy, Tubular Aggregate, 1 |
|
Abnormal pupil morphology |
OMIM:160565 |
Cofs Syndrome |
|
Cataract, Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:1466 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Iris coloboma, Chorioretinal coloboma |
OMIM:611638 |
Retinitis Pigmentosa |
|
Optic atrophy, Abnormality of retinal pigmentation, Cataract, Keratoconus, Abnormal retinal vascu... |
ORPHA:791 |
Piebald Trait-Neurologic Defects Syndrome |
|
Irregular hyperpigmentation, Abnormal eyebrow morphology, Hypopigmented skin patches, Hypopigment... |
ORPHA:2885 |
Alternating Hemiplegia Of Childhood |
|
Abnormal T-wave, Mydriasis, Abnormal autonomic nervous system physiology, Choreoathetosis, Tremor... |
ORPHA:2131 |
Deafness, Autosomal Recessive 108 |
|
Iris coloboma |
OMIM:617654 |
Obesity |
|
Obesity, Increased waist to hip ratio |
OMIM:601665 |
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome |
|
Hypertrophic cardiomyopathy, Cataract, Corneal dystrophy |
ORPHA:1369 |
Retinitis Pigmentosa 62 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... |
OMIM:614181 |
Netherton Syndrome |
|
Sparse eyebrow, Sparse scalp hair, Brittle hair, Brittle scalp hair, Failure to thrive, Increased... |
OMIM:256500 |
Lissencephaly 5 |
|
Cataract, Optic atrophy |
OMIM:615191 |
Cocaine Intoxication |
|
Hypotension, Ischemic stroke, Mydriasis, Hypovolemia, Cerebral hemorrhage, Ventricular arrhythmia... |
ORPHA:90068 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Increased circulating IgE level, Decreased circulating total IgM |
OMIM:617638 |
Microcornea, Myopic Chorioretinal Atrophy, And Telecanthus |
|
Chorioretinal degeneration, Posterior subcapsular cataract, Microcornea |
OMIM:615458 |
Autosomal Recessive Stickler Syndrome |
|
Retinal detachment, Astigmatism, Cataract, Vitreoretinopathy |
ORPHA:250984 |
Oculocutaneous Albinism Type 3 |
|
Hypopigmentation of the skin, Generalized hypopigmentation of hair, White eyelashes, Iris hypopig... |
ORPHA:79433 |
Igg4-Related Aortitis |
|
Increased circulating IgG4 level, Weight loss, Increased circulating antibody level, Elevated cir... |
ORPHA:449400 |
Bickerstaff Brainstem Encephalitis |
|
Mydriasis, Decreased motor nerve conduction velocity, Abnormality of the autonomic nervous system... |
ORPHA:79138 |
Retinitis Pigmentosa 32 |
|
Retinal degeneration, Bone spicule pigmentation of the retina, Attenuation of retinal blood vesse... |
OMIM:609913 |
Retinitis Pigmentosa 81 |
|
Retinal pigment epithelial atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, A... |
OMIM:617871 |
Arachnoid Cyst |
|
Subarachnoid hemorrhage, Cranial nerve compression, Mydriasis, Facial palsy |
ORPHA:2356 |
Corneal Dystrophy, Posterior Polymorphous, 4 |
|
Ectopia pupillae |
OMIM:618031 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Cone/cone-rod dystrophy, Lingual dystonia, Optic atrophy, Optic disc pallor, Corneal scarring, Ax... |
ORPHA:404454 |
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome |
|
Iris coloboma, Chorioretinal coloboma, Retinal coloboma |
ORPHA:2921 |
Developmental And Epileptic Encephalopathy 93 |
|
Iris coloboma, Optic atrophy |
OMIM:618012 |
Flynn-Aird Syndrome |
|
Cataract, Rod-cone dystrophy |
OMIM:136300 |
Usher Syndrome Type 3 |
|
Iris hypopigmentation, Cataract, Astigmatism |
ORPHA:231183 |
Kimura Disease |
|
Increased circulating IgE level |
ORPHA:482 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Cataract, Microcornea |
ORPHA:2528 |
Waardenburg Syndrome Type 2 |
|
Premature graying of hair, Hypopigmented skin patches, White forelock, Hypopigmentation of hair, ... |
ORPHA:895 |
Retinitis Pigmentosa 11 |
|
Rod-cone dystrophy, Macular edema, Macular degeneration, Macular atrophy, Bone spicule pigmentati... |
OMIM:600138 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Alopecia, Decreased lymphocyte proliferation in response to mitogen, Increased circulating antibo... |
ORPHA:169154 |
Pituitary Apoplexy |
|
Hypotension, Hypertension, Mydriasis |
ORPHA:95613 |
Enhanced S-Cone Syndrome |
|
Macular edema, Vitreoretinopathy, Retinoschisis, Cataract, Pigmentary retinopathy |
OMIM:268100 |
Zika Virus Disease |
|
Conjunctivitis, Retinal pigment epithelial mottling, Abnormal optic disc morphology, Macular atro... |
ORPHA:448237 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Complete or near-complete absence of specific antibody response to tetanus vaccine, Impaired Ig c... |
OMIM:605258 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Decreased circulating total IgM, Decreased circulating IgE, Failure to thrive, Decreased circulat... |
OMIM:619824 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Cataract |
OMIM:614876 |
Cataract 6, Multiple Types |
|
Posterior polar cataract, Developmental cataract, Choroideremia |
OMIM:116600 |
Scorpion Envenomation |
|
Mydriasis, T-wave inversion, Cardiogenic shock, Prominent U wave, Bundle branch block, ST segment... |
ORPHA:466677 |
Spermatogenic Failure, X-Linked, 1 |
|
Obesity |
OMIM:305700 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Cataract, Optic disc pallor |
OMIM:613730 |
Riboflavin Transporter Deficiency |
|
Iris hypopigmentation, Abnormal autonomic nervous system physiology, Hypertension, Tremor, Abnorm... |
ORPHA:97229 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Cataract |
OMIM:273680 |
Spastic Paraplegia 5A, Autosomal Recessive |
|
Postural tremor, Cataract, Optic atrophy |
OMIM:270800 |
Oculocutaneous Albinism Type 4 |
|
Hypopigmentation of the skin, Ocular albinism, Albinism, Iris hypopigmentation, Abnormality of re... |
ORPHA:79435 |
Retinitis Pigmentosa 95 |
|
Perifoveal ring of hyperautofluorescence, Bone spicule pigmentation of the retina, Attenuation of... |
OMIM:620102 |
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive |
|
Astigmatism, Optic atrophy |
OMIM:248000 |
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive |
|
Keratitis, Increased circulating IgE level |
OMIM:618523 |
Pellagra-Like Syndrome |
|
Cataract |
OMIM:260650 |
Retinitis Pigmentosa 70 |
|
Rod-cone dystrophy, Retinal degeneration, Macular degeneration, Attenuation of retinal blood vess... |
OMIM:615922 |
Absence Deformity Of Leg-Cataract Syndrome |
|
Cataract |
ORPHA:2310 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Iris hypopigmentation, Iris coloboma, Anterior synechiae of the anterior chamber, Microcornea |
ORPHA:3214 |
Triglyceride Storage Disease, Type Ii |
|
Obesity |
OMIM:190430 |
Immunodeficiency 86 |
|
Impaired oxidative burst, Increased circulating IgM level, Decreased circulating IgG level |
OMIM:619549 |
Edinburgh Malformation Syndrome |
|
Brushfield spots, Synophrys, Failure to thrive, Hirsutism, Low posterior hairline, Generalized hi... |
ORPHA:1895 |
Griscelli Syndrome |
|
Abnormal circulating lipid concentration, Abnormal eyebrow morphology, Premature graying of hair,... |
ORPHA:381 |
Retinitis Pigmentosa 50 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal flecks, Retinal detachment, Opt... |
OMIM:613194 |
Albinism, Oculocutaneous, Type Vii |
|
Albinism, Iris transillumination defect |
OMIM:615179 |
Linear Verrucous Nevus Syndrome |
|
Retinopathy, Iris coloboma, Abnormal cornea morphology, Cataract, Aplasia/Hypoplasia of the fovea |
ORPHA:2611 |
Microphthalmia, Isolated, With Corectopia |
|
Ectopia pupillae |
OMIM:156900 |
Netherton Syndrome |
|
Sparse eyebrow, Irregular hyperpigmentation, Sparse scalp hair, Trichorrhexis nodosa, Decreased c... |
ORPHA:634 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Increased circulating IgE level |
ORPHA:1858 |
Mt-Atp6-Related Mitochondrial Spastic Paraplegia |
|
Supraventricular arrhythmia, Peripheral axonal neuropathy, Optic atrophy, Cardiomyopathy |
ORPHA:320360 |
Retinitis Pigmentosa 74 |
|
Rod-cone dystrophy, Pigmentary retinopathy, Posterior polar cataract, Optic disc pallor |
OMIM:616562 |
Congenital Varicella Syndrome |
|
Cataract |
ORPHA:291 |
Coloboma, Ocular, Autosomal Dominant |
|
Morning glory anomaly, Optic nerve aplasia, Remnants of the hyaloid vascular system, Peters anoma... |
OMIM:120200 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Retinal fold, Optic atrophy, Microcornea, Astigmatism, Cataract, Corneal opacity, Chorioretinal d... |
OMIM:152950 |
Proteus-Like Syndrome |
|
Abnormal pupil morphology, Limbal dermoid, Cataract, Heterochromia iridis, Retinal detachment |
ORPHA:2969 |
Oculocutaneous Albinism Type 2 |
|
Hypopigmentation of the skin, Iris transillumination defect, White eyelashes, Iris hypopigmentati... |
ORPHA:79432 |
Peeling Skin Syndrome 1 |
|
Increased circulating IgE level, Nail dystrophy, Brittle hair |
OMIM:270300 |
Combined Oxidative Phosphorylation Deficiency 13 |
|
Cataract, Choreoathetosis, Dystonia, Decreased nerve conduction velocity |
OMIM:614932 |
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Pulmonary embolism, Hypertension, Congestive heart failure, Hypertrophic cardiomyopathy, Cataract... |
ORPHA:1345 |
Chromosome Xp11.3 Deletion Syndrome |
|
Rod-cone dystrophy, Optic atrophy, Attenuation of retinal blood vessels, Posterior subcapsular ca... |
OMIM:300578 |
Retinitis Pigmentosa 23 |
|
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Attenuation of retinal blood vessels, Pos... |
OMIM:300424 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Corneal opacity, Large for gestational age, Microcornea |
ORPHA:2432 |
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome |
|
Cataract |
ORPHA:1373 |
Proximal Myotonic Myopathy |
|
Cataract |
ORPHA:606 |
Stickler Syndrome, Type Ii |
|
Retinal detachment, Abnormal vitreous humor morphology, Cataract |
OMIM:604841 |
Retinitis Pigmentosa 63 |
|
Rod-cone dystrophy, Optic disc pallor |
OMIM:614494 |
Warburg-Cinotti Syndrome |
|
Retinal dystrophy, Limbal stem cell deficiency, Symblepharon, Corneal neovascularization, Decreas... |
OMIM:618175 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Cardiomyopathy, Megalocornea, Coloboma, Optic atrophy, Optic nerve hypoplasia, Cataract, Retinal ... |
ORPHA:370959 |
Alexander Disease |
|
Microcoria |
OMIM:203450 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:1574 |
Cone-Rod Dystrophy 17 |
|
Optic disc pallor, Cone/cone-rod dystrophy |
OMIM:615163 |
Retinitis Pigmentosa 26 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor |
OMIM:608380 |
Usher Syndrome Type 1 |
|
Iris hypopigmentation, Cataract |
ORPHA:231169 |
Albinism-Deafness Syndrome |
|
Irregular hyperpigmentation, Piebaldism, Hypopigmented skin patches, Heterochromia iridis, Partia... |
ORPHA:998 |
Tricho-Retino-Dento-Digital Syndrome |
|
Juvenile cataract, Abnormality of retinal pigmentation |
ORPHA:1264 |
Congenital Muscular Dystrophy, Fukuyama Type |
|
Retinal dysplasia, Cataract, Dilated cardiomyopathy, Optic atrophy |
ORPHA:272 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Retinal detachment, Cataract, Optic nerve hypoplasia |
OMIM:615181 |
Joubert Syndrome 9 |
|
Astigmatism, Retinal dystrophy, Cataract |
OMIM:612285 |
Leukodystrophy, Hypomyelinating, 22 |
|
Astigmatism, Optic disc pallor |
OMIM:619328 |
Spinocerebellar Ataxia, Autosomal Recessive 29 |
|
Retinal pigment epithelial mottling, Generalized dystonia, Peripheral axonal neuropathy, Optic di... |
OMIM:619389 |
Waardenburg Syndrome, Type 3 |
|
Premature graying of hair, Synophrys, Hypopigmented skin patches, White forelock, Heterochromia i... |
OMIM:148820 |
Triple A Syndrome |
|
Iris coloboma, Optic atrophy, Motor axonal neuropathy |
ORPHA:869 |
Neurodegeneration With Brain Iron Accumulation |
|
Retinopathy, Dystonia, Optic atrophy |
ORPHA:385 |
Irvan Syndrome |
|
Tractional retinal detachment, Macular edema, Optic atrophy, Retinal exudate, Vitreous floaters, ... |
ORPHA:209943 |
Posterior Column Ataxia With Retinitis Pigmentosa |
|
Rod-cone dystrophy, Peripheral demyelination, Optic atrophy, Bone spicule pigmentation of the ret... |
OMIM:609033 |
Gyrate Atrophy Of Choroid And Retina |
|
Chorioretinal atrophy, Posterior subcapsular cataract, Foveoschisis, Macular thickening |
OMIM:258870 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Elevated pulmonary artery pressure, Bidirectional shunt, Mydriasis |
OMIM:619351 |
Retinitis Pigmentosa 73 |
|
Rod-cone dystrophy, Peripapillary atrophy, Macular crystals, Retinal atrophy, Bone spicule pigmen... |
OMIM:616544 |
Ermine Phenotype |
|
Irregular hyperpigmentation, Ocular albinism, Iris hypopigmentation, Hypopigmented skin patches, ... |
ORPHA:999 |
Infantile Refsum Disease |
|
Cardiomyopathy, Rod-cone dystrophy, Optic atrophy, Cataract, Arrhythmia, Facial palsy |
ORPHA:772 |
Optic Atrophy 12 |
|
Optic disc pallor, Optic atrophy |
OMIM:618977 |
Ectopia Pupillae |
|
Ectopia pupillae |
OMIM:129750 |
Refsum Disease, Classic |
|
Rod-cone dystrophy, Retinal degeneration, Congestive heart failure, Cataract, Arrhythmia, Miosis,... |
OMIM:266500 |
Striatonigral Degeneration, Infantile |
|
Choreoathetosis, Dystonia, Optic atrophy |
OMIM:271930 |
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:2246 |
Combined Oxidative Phosphorylation Deficiency 31 |
|
Hypertrophic cardiomyopathy, Cataract |
OMIM:617228 |
Retinitis Pigmentosa 38 |
|
Peripheral retinal atrophy, Rod-cone dystrophy, Macular atrophy, Optic disc pallor |
OMIM:613862 |
Aniridia And Absent Patella |
|
Cataract, Aniridia |
OMIM:106220 |
Urban-Rogers-Meyer Syndrome |
|
Obesity, Increased circulating IgE level |
ORPHA:3409 |
Stickler Syndrome Type 1 |
|
Retinal detachment, Abnormal vitreous humor morphology, Cataract |
ORPHA:90653 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Fair hair, Red hair, Obesity, Blue irides |
OMIM:614613 |
X-Linked Intellectual Disability, Najm Type |
|
Cataract, Chorioretinal coloboma, Optic atrophy, Optic nerve hypoplasia |
ORPHA:163937 |
Cataract 14, Multiple Types |
|
Zonular cataract |
OMIM:601885 |
Frontal Encephalocele |
|
Spina bifida, Hydrocephalus, Encephalocele |
ORPHA:1931 |
Free Sialic Acid Storage Disease |
|
Iris hypopigmentation, Abnormality of skin pigmentation, Failure to thrive in infancy, Athetosis |
ORPHA:834 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Impaired Ig class switch recombination, Decreased circulating IgA level, Increased circulating Ig... |
OMIM:608106 |
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
Cafe-au-lait spot, Hand tremor, Frontal balding, Blue irides, Truncal obesity, Early balding |
ORPHA:3041 |
Neonatal Adrenoleukodystrophy |
|
Cataract, Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:44 |
Nance-Horan Syndrome |
|
Retinal detachment, Cataract, Microcornea |
ORPHA:627 |
Kid Syndrome |
|
Conjunctivitis, Corneal erosion, Limbal stem cell deficiency, Keratoconjunctivitis sicca, Punctat... |
ORPHA:477 |
Harel-Yoon Syndrome |
|
Optic atrophy, Developmental cataract, Hypertrophic cardiomyopathy, Peripheral axonal neuropathy,... |
OMIM:617183 |
Bardet-Biedl Syndrome 9 |
|
Rod-cone dystrophy, Retinal degeneration, Bone spicule pigmentation of the retina, Attenuation of... |
OMIM:615986 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Cataract |
ORPHA:1875 |
Ceroid Lipofuscinosis, Neuronal, 7 |
|
Retinopathy, Pigmentary retinopathy, Optic atrophy |
OMIM:610951 |
Ophthalmoplegia, Familial Static |
|
Anisocoria |
OMIM:165000 |
Night Blindness, Congenital Stationary, Type 1G |
|
Rod-cone dystrophy, Congenital stationary night blindness, Optic disc pallor |
OMIM:616389 |
Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Retinal degeneration, Optic atrophy |
OMIM:614322 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Rod-cone dystrophy, Optic atrophy, Bone spicule pigmentation of the retina, Cataract, Optic disc ... |
OMIM:268315 |
Microphthalmia With Brain And Digit Anomalies |
|
Retinal dystrophy, Microcornea, Iris coloboma, Cataract, Chorioretinal coloboma, Sclerocornea |
ORPHA:139471 |
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome |
|
Optic atrophy |
ORPHA:2773 |
X-Linked Immunoneurologic Disorder |
|
Cataract |
ORPHA:2571 |
Immunodeficiency 61 |
|
Decreased circulating total IgM, Decreased circulating IgG2 level, Agammaglobulinemia, Decreased ... |
OMIM:300310 |
Familial Dysautonomia |
|
Abnormal pupil morphology, Corneal erosion, Optic atrophy, Hypertension, Heterochromia iridis, Co... |
ORPHA:1764 |
Pierson Syndrome |
|
Retinal hemorrhage, Microcoria, Rieger anomaly, Hypoplasia of the ciliary body, Macular hypoplasi... |
OMIM:609049 |
Galactose Epimerase Deficiency |
|
Cataract |
ORPHA:79238 |
Retinitis Pigmentosa 19 |
|
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ... |
OMIM:601718 |
Cochleosaccular Degeneration-Cataract Syndrome |
|
Cataract |
ORPHA:3233 |
Cataract 17, Multiple Types |
|
Nuclear cataract, Pulverulent cataract, Developmental cataract, Microcornea |
OMIM:611544 |
Prune1-Related Neurological Syndrome |
|
Hypertrophic cardiomyopathy, Cataract, Retinopathy, Optic atrophy |
ORPHA:544469 |
Retinitis Pigmentosa 88 |
|
Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of retinal blood vesse... |
OMIM:618826 |
Achondrogenesis Type 2 |
|
Retinal detachment, Abnormal vitreous humor morphology, Cataract, Lens subluxation |
ORPHA:93296 |
Lissencephaly 8 |
|
Cataract, Optic atrophy |
OMIM:617255 |
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies |
|
Cataract, Optic atrophy |
OMIM:617481 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Phakodonesis, Anterior synechiae of the anterior chamber, Ectopia lentis, Shallow anterior chambe... |
OMIM:601552 |
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
|
Synophrys, Heterochromia iridis, Abnormality of retinal pigmentation |
ORPHA:1390 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Failure to thrive, Hyperkalemia, Increased circulating renin level, Hyponatremia |
OMIM:610600 |
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant |
|
Decreased circulating IgA level, Increased circulating IgE level, Decreased circulating total IgM... |
OMIM:619752 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Optic atrophy, Decr... |
OMIM:609260 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ia |
|
Chronic axonal neuropathy, Decreased motor nerve conduction velocity, Hand tremor, Decreased sens... |
OMIM:162400 |
Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Cataract |
OMIM:618392 |
Hypogonadism-Cataract Syndrome |
|
Cataract |
OMIM:240950 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Astigmatism, Cataract, Optic atrophy, Ectopia pupillae |
OMIM:618727 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Failure to thrive, Increased circulating IgE level |
OMIM:614328 |
Corticosterone Methyloxidase Type I Deficiency |
|
Failure to thrive, Hyperkalemia, Increased circulating renin level, Hyponatremia |
OMIM:203400 |
Pontocerebellar Hypoplasia, Type 16 |
|
Cataract, Optic atrophy |
OMIM:619527 |
Oculo-Palato-Cerebral Syndrome |
|
Retinal detachment, Remnants of the hyaloid vascular system, Leukocoria, Cataract |
ORPHA:2714 |
Spastic Paraplegia 75, Autosomal Recessive |
|
Astigmatism, Optic atrophy |
OMIM:616680 |
Hermansky-Pudlak Syndrome 11 |
|
Melanocytic nevus, Iris transillumination defect, Ocular albinism, Albinism, Fair hair, Impaired ... |
OMIM:619172 |
Triopia |
|
Abnormal pupil morphology, Iris coloboma, Microcornea |
ORPHA:3374 |
Achalasia-Addisonianism-Alacrima Syndrome |
|
Orthostatic hypotension, Motor axonal neuropathy, Optic atrophy, Abnormal autonomic nervous syste... |
OMIM:231550 |
Cataract 16, Multiple Types |
|
Retinal dystrophy, Lenticonus, Posterior polar cataract, Developmental cataract |
OMIM:613763 |
Distal Monosomy 6P |
|
Posterior embryotoxon, Hypoplasia of the iris, Anterior synechiae of the anterior chamber, Cornea... |
ORPHA:96125 |
Retinitis Pigmentosa 28 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Optic disc pallor |
OMIM:606068 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14 |
|
Cataract, Cardiomyopathy |
OMIM:615352 |
Waardenburg Syndrome, Type 2E |
|
Cafe-au-lait spot, Premature graying of hair, Ocular albinism, White eyelashes, Iris hypopigmenta... |
OMIM:611584 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Vitreous hemorrhage, Macular edema, Anterior chamber flare, Posterior synechiae of the anterior c... |
ORPHA:91500 |
Piebald Trait |
|
Absent pigmentation of the ventral chest, Piebaldism, White forelock, Heterochromia iridis, Parti... |
OMIM:172800 |
Griscelli Syndrome Type 2 |
|
Premature graying of hair, Iris hypopigmentation, Hypopigmentation of hair, Hyperlipidemia, Parti... |
ORPHA:79477 |
Nephronophthisis 11 |
|
Anisocoria, Retinal degeneration |
OMIM:613550 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Coloboma, Retinal thinning, Cone/cone-rod dystrophy, Retinal atrophy, Macular atrophy, Abnormalit... |
ORPHA:85167 |
Ophthalmoplegia, External, And Myopia |
|
Spina bifida |
OMIM:311000 |
Autosomal Recessive Spastic Paraplegia Type 57 |
|
Abnormality of peripheral nerve conduction, Optic atrophy |
ORPHA:431329 |
Intestinal Dysmotility Syndrome |
|
Cataract |
OMIM:620045 |
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant |
|
Increased circulating IgE level |
OMIM:147060 |
Intellectual Developmental Disorder, X-Linked 97 |
|
Synophrys, Obesity |
OMIM:300803 |
Cataract 1, Multiple Types |
|
Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract, Microcornea |
OMIM:116200 |
Microphthalmia, Isolated, With Coloboma 9 |
|
Ocular anterior segment dysgenesis, Microcornea, Iris coloboma, Retinal detachment, Macular colob... |
OMIM:615145 |
Optic Atrophy 6 |
|
Optic atrophy |
OMIM:258500 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
|
Increased circulating IgE level |
OMIM:618985 |
Central Precocious Puberty |
|
Abnormality of secondary sexual hair, Cafe-au-lait spot, Overgrowth, Obesity, Increased body weight |
ORPHA:759 |
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease |
|
Retinal arteriolar constriction, Papilledema |
OMIM:124950 |
Vogt-Koyanagi-Harada Disease |
|
Retinal detachment, Cataract |
ORPHA:3437 |
Retinitis Pigmentosa 79 |
|
Optic disc pallor, Macular atrophy, Bone spicule pigmentation of the retina, Attenuation of retin... |
OMIM:617460 |
Facial Spasm |
|
Anisocoria |
OMIM:134300 |
Hypoadrenocorticism, Familial |
|
Abnormality of skin pigmentation, Hyperkalemia, Hyponatremia |
OMIM:240200 |
Srd5A3-Cdg |
|
Rod-cone dystrophy, Coloboma, Optic atrophy, Optic disc hypoplasia, Cataract |
ORPHA:324737 |
4H Leukodystrophy |
|
Cataract, Tremor, Dystonia, Optic atrophy |
ORPHA:289494 |
Oculocutaneous Albinism |
|
Hypopigmentation of the skin, Generalized hypopigmentation of hair, Ocular albinism, Generalized ... |
ORPHA:55 |
Warburg Micro Syndrome 1 |
|
Developmental cataract, Optic atrophy, Microcornea |
OMIM:600118 |
Adult-Onset Autosomal Recessive Cerebellar Ataxia |
|
Tortuosity of conjunctival vessels, Macular degeneration, Intention tremor, Cataract |
ORPHA:284289 |
Neural Tube Defects, Susceptibility To |
|
Spina bifida occulta, Anencephaly, Hydrocephalus, Myelomeningocele |
OMIM:182940 |
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive |
|
Alopecia, Increased circulating IgE level, Decreased circulating IgA level |
OMIM:618282 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Abnormality of peripheral nerve conduction, Motor axonal neuropathy, Microcornea, Cataract, Inten... |
ORPHA:48431 |
Spastic Paraplegia, Optic Atrophy, And Dementia |
|
Optic disc pallor, Optic atrophy |
OMIM:182830 |
Retinitis Pigmentosa 37 |
|
Rod-cone dystrophy, Posterior subcapsular cataract, Nuclear cataract, Cystoid macular degeneratio... |
OMIM:611131 |
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type) |
|
Macular degeneration, Cataract |
OMIM:619780 |
Short Syndrome |
|
Abnormal pupil morphology, Megalocornea, Posterior embryotoxon, Hypoplasia of the iris, Corneal o... |
ORPHA:3163 |
Leukodystrophy, Hypomyelinating, 24 |
|
Decreased motor nerve conduction velocity, Cataract, Peripheral axonal neuropathy |
OMIM:619851 |
Leber Congenital Amaurosis 15 |
|
Peripapillary atrophy, Slow pupillary light response, Dull foveal reflex, Retinal degeneration, A... |
OMIM:613843 |
Tonne-Kalscheuer Syndrome |
|
Tremor, Blue irides, Fine hair |
OMIM:300978 |
Cataract 10, Multiple Types |
|
Posterior Y-sutural cataract, Nuclear cataract, Zonular cataract, Developmental cataract |
OMIM:600881 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Alopecia universalis, Increased circulating IgE level, Decreased lymphocyte proliferation in resp... |
OMIM:606367 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Decreased T cell activation, Decreased circulating IgE, Failure to thrive, Impaired Ig class swit... |
OMIM:308230 |
Autosomal Recessive Spastic Paraplegia Type 75 |
|
Titubation, Temporal optic disc pallor, Astigmatism |
ORPHA:459056 |
Muscle-Eye-Brain Disease |
|
Cataract, Optic atrophy |
ORPHA:588 |
Galactose Mutarotase Deficiency |
|
Cataract |
ORPHA:570422 |
Martsolf Syndrome 2 |
|
Cataract, Developmental cataract |
OMIM:619420 |
Retinal Dystrophy With Or Without Macular Staphyloma |
|
Retinal dystrophy, Retinal pigment epithelial mottling, Bone spicule pigmentation of the retina, ... |
OMIM:617547 |
Microphthalmia, Syndromic 5 |
|
Coloboma, Retinal dystrophy, Microcornea, Optic nerve hypoplasia, Cataract |
OMIM:610125 |
Weill-Marchesani Syndrome |
|
Ectopia lentis, Cataract, Mitral regurgitation, Aortic valve stenosis, Pulmonic stenosis |
ORPHA:3449 |
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Increased circulating IgG level, Increased circulating IgE level, Decreased circulating total IgM |
OMIM:243700 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Increased circulating IgE level, Elevated circulating C-reactive protein concentration, Weight loss |
ORPHA:2902 |
Acalvaria |
|
Spina bifida, Holoprosencephaly, Hydrocephalus |
ORPHA:945 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Increased circulating IgE level |
ORPHA:217390 |
Malignant Hyperthermia, Susceptibility To, 2 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154275 |
Peroxisome Biogenesis Disorder 11B |
|
Cataract |
OMIM:614885 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Optic atrophy, Optic nerve hypoplasia, Hypertrophic cardiomyopathy, Cataract, Peripheral axonal n... |
ORPHA:496790 |
Early-Onset X-Linked Optic Atrophy |
|
Optic atrophy, Choreoathetosis, Decreased nerve conduction velocity, Optic disc pallor, Intention... |
ORPHA:98890 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 |
|
Onion bulb formation, Rod-cone dystrophy, Optic atrophy, Segmental peripheral demyelination/remye... |
OMIM:311070 |
Congenital Rubella Syndrome |
|
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Abnormality of retinal pigmentation |
ORPHA:290 |
Retinitis Pigmentosa 1 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... |
OMIM:180100 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Retinal degeneration, Abnormal auditory evoked potentials, Macular atrophy, Attenuation of retina... |
OMIM:619260 |
Hemihyperplasia, Isolated |
|
Myelomeningocele |
OMIM:235000 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Failure to thrive, Hyperkalemia, Increased circulating renin level, Hyponatremia |
OMIM:177735 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Obesity, Hypercholesterolemia |
OMIM:608320 |
Hermansky-Pudlak Syndrome 8 |
|
Generalized hypopigmentation, Ocular albinism, Albinism, Iris transillumination defect, Impaired ... |
OMIM:614077 |
Dermatitis, Atopic |
|
Conjunctivitis, Cataract, Keratoconus |
OMIM:603165 |
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Cataract, Aplasia/Hypoplasia of the lens |
ORPHA:1381 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Retinal detachment, Cataract, Coloboma, Corneal opacity |
OMIM:613153 |
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Failure to thrive, Hyperkalemia, Hyponatremia |
OMIM:264350 |
Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM |
OMIM:153600 |
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities |
|
Retinal dystrophy, Optic disc pallor |
OMIM:616079 |
Retinitis Pigmentosa 78 |
|
Cystoid macular edema, Optic disc pallor |
OMIM:617433 |
Intellectual Developmental Disorder, X-Linked, Syndromic 17 |
|
Anisocoria |
OMIM:300858 |
Usher Syndrome, Type 1M |
|
Optic disc pallor, Drusen |
OMIM:618632 |
22Q11.2 Deletion Syndrome |
|
Posterior embryotoxon, Optic atrophy, Aganglionic megacolon, Retinal arteriolar tortuosity, Corne... |
ORPHA:567 |
Infantile-Onset Spinocerebellar Ataxia |
|
Abnormality of the autonomic nervous system, Optic atrophy |
ORPHA:1186 |
Spondylo-Ocular Syndrome |
|
Abnormal eyebrow morphology, Iris hypopigmentation, Cataract, Low posterior hairline, Aplasia/Hyp... |
ORPHA:85194 |
Malignant Hyperthermia, Susceptibility To, 3 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154276 |
Edict Syndrome |
|
Hypoplasia of the iris, Microcornea, Astigmatism, Anterior polar cataract, Keratoconus |
OMIM:614303 |
Sturge-Weber Syndrome |
|
Pulmonary embolism, Optic atrophy, Abnormal choroid morphology, Iris coloboma, Conjunctival telan... |
ORPHA:3205 |
Knobloch Syndrome 1 |
|
Peripapillary atrophy, Iris transillumination defect, Macular hypoplasia, Slow pupillary light re... |
OMIM:267750 |
Frontofacionasal Dysplasia |
|
Brushfield spots, Aplasia/Hypoplasia of the eyebrow, Limbal dermoid, Microcornea, Iris coloboma, ... |
ORPHA:1791 |
Alg2-Cdg |
|
Iris coloboma, Cataract |
ORPHA:79326 |
Wagr Syndrome |
|
Aplasia/Hypoplasia of the iris, Cataract |
ORPHA:893 |
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Hyperkalemia, Increased circulating renin level, Hyponatremia |
OMIM:620126 |
Oculocutaneous Albinism Type 1B |
|
Hypopigmentation of the skin, Melanocytic nevus, Albinism, Iris hypopigmentation, Abnormality of ... |
ORPHA:79434 |
Waardenburg Syndrome Type 1 |
|
Premature graying of hair, White eyelashes, Synophrys, White eyebrow, Hypopigmented skin patches,... |
ORPHA:894 |
Neutropenia, Chronic Familial |
|
Increased circulating antibody level |
OMIM:162700 |
Cln3 Disease |
|
Optic atrophy, T-wave inversion, Bull's eye maculopathy, Cataract, Bradycardia, Pigmentary retino... |
ORPHA:228346 |
Late-Onset Familial Hypoaldosteronism |
|
Failure to thrive, Hyperkalemia, Increased circulating renin level, Hyponatremia |
ORPHA:556037 |
Hyperkalemic Periodic Paralysis |
|
Hyperkalemia |
OMIM:170500 |
Achromatopsia 2 |
|
Peripapillary atrophy, Retinal thinning, Dull foveal reflex, Hypoplasia of the fovea, Myopic asti... |
OMIM:216900 |
Otodental Syndrome |
|
Lens coloboma, Microcornea, Iris coloboma, Cataract, Retinal coloboma |
ORPHA:2791 |
Achromatopsia 3 |
|
Cataract |
OMIM:262300 |
Pelvis-Shoulder Dysplasia |
|
Iris coloboma, Optic disc coloboma, Opacification of the corneal stroma |
OMIM:169550 |
Angelman Syndrome |
|
Hypopigmentation of the skin, Fair hair, Blue irides, Limb tremor, Obesity |
OMIM:105830 |
Angelman Syndrome Due To A Point Mutation |
|
Iris hypopigmentation, Hypopigmentation of the skin, Obesity, Hypopigmentation of hair |
ORPHA:411511 |
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyperkalemia, Increased circulating renin level, Hyponatremia |
OMIM:620125 |
Macular Dystrophy With Central Cone Involvement |
|
Perifoveal ring of hyperautofluorescence, Bull's eye maculopathy, Macular dystrophy, Optic disc p... |
OMIM:616170 |
Chromosome Xq21 Deletion Syndrome |
|
Chorioretinal degeneration, Obesity, Chorioretinal atrophy, Choroideremia |
OMIM:303110 |
Peroxisome Biogenesis Disorder 8B |
|
Optic atrophy, Retinal dystrophy, Cataract, Limb tremor, Peripheral demyelination |
OMIM:614877 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Macular hypoplasia, Iris coloboma, Optic atrophy |
OMIM:615219 |
Vitamin K Antagonist Embryofetopathy |
|
Cataract, Optic atrophy |
ORPHA:1914 |
Oculocutaneous Albinism Type 1A |
|
Hypopigmentation of the skin, Ocular albinism, Albinism, Iris hypopigmentation, Hypopigmentation ... |
ORPHA:79431 |
Hypomelanosis Of Ito |
|
Iris coloboma, Cataract |
OMIM:300337 |
Hemangioma-Thrombocytopenia Syndrome |
|
Hyperkalemia |
OMIM:141000 |
Hermansky-Pudlak Syndrome 5 |
|
Albinism, Impaired ADP-induced platelet aggregation, Iris transillumination defect, Ocular albinism |
OMIM:614074 |
Usher Syndrome, Type Iiib |
|
Optic disc pallor |
OMIM:614504 |
Autosomal Recessive Spastic Paraplegia Type 26 |
|
Cataract, Dystonia |
ORPHA:101006 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Spina bifida, Anencephaly |
ORPHA:2476 |
Albinism, Oculocutaneous, Type Ia |
|
Ocular albinism, Albinism, Astigmatism, Hypopigmentation of hair, Blue irides, White hair, Absent... |
OMIM:203100 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Blue irides |
OMIM:615516 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair, Tremor, Obesity |
ORPHA:98794 |
Lymphoma, Hodgkin, Classic |
|
Polyclonal elevation of IgM |
OMIM:236000 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Astigmatism, Optic disc pallor, Abnormal auditory evoked potentials |
OMIM:617523 |
Myopathy, Distal, 7, Adult-Onset, X-Linked |
|
Cataract, Cardiomyopathy |
OMIM:301075 |
Congenital Microcoria |
|
Megalocornea, Iris transillumination defect, Iris hypopigmentation, Corneal stromal edema, Develo... |
ORPHA:566 |
Severe Oculo-Renal-Cerebellar Syndrome |
|
Optic atrophy, Choreoathetosis, Abnormality of retinal pigmentation, Cataract, Abnormal retinal v... |
ORPHA:2715 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Cataract, Abnormality of retinal pigmentation |
ORPHA:3085 |
Distal Monosomy 13Q |
|
Iris coloboma, Optic atrophy |
ORPHA:1590 |
Aniridia-Absent Patella Syndrome |
|
Cataract, Aniridia |
ORPHA:1069 |
Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Retinal detachment, Cataract |
ORPHA:1856 |
Early-Onset Familial Hypoaldosteronism |
|
Failure to thrive, Hyperkalemia, Increased circulating renin level, Hyponatremia |
ORPHA:556030 |
Wolfram Syndrome 1 |
|
Optic atrophy, Cataract, Tremor, Pigmentary retinopathy, Cardiomyopathy |
OMIM:222300 |
Piebaldism |
|
Piebaldism, White eyelashes, Synophrys, White eyebrow, Hypopigmented skin patches, White forelock... |
ORPHA:2884 |
Collagenoma, Familial Cutaneous |
|
Cardiomyopathy, Right ventricular cardiomyopathy, Tricuspid regurgitation, Congestive heart failu... |
OMIM:115250 |
Revesz Syndrome |
|
Leukocoria, Megalocornea, Exudative retinopathy |
OMIM:268130 |
Pseudohypoaldosteronism, Type Iia |
|
Hyperkalemia |
OMIM:145260 |
Immunodeficiency 85 And Autoimmunity |
|
Decreased circulating total IgM, Decreased circulating IgE, Decreased circulating IgA level, Fail... |
OMIM:619510 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 8 |
|
Hemidystonia, Optic atrophy |
OMIM:619052 |
Mitochondrial Complex I Deficiency, Nuclear Type 34 |
|
Optic disc pallor, Optic atrophy |
OMIM:618776 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Rod-cone dystrophy, Abnormal sensory nerve conduction velocity, Abnormality of peripheral nerves,... |
ORPHA:88628 |
Glaucoma 1, Open Angle, F |
|
Increased cup-to-disc ratio |
OMIM:603383 |
Retinitis Pigmentosa 12 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... |
OMIM:600105 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Failure to thrive, Increased circulating IgE level, Alopecia |
OMIM:304790 |
Aortic Aneurysm, Familial Thoracic 6 |
|
Iris flocculi |
OMIM:611788 |
Spinocerebellar Ataxia 7 |
|
Macular degeneration, Tremor, Pigmentary retinopathy, Optic atrophy |
OMIM:164500 |
Walker-Warburg Syndrome |
|
Optic atrophy, Retinal dystrophy, Microcornea, Retinal dysplasia, Iris coloboma, Cataract, Cornea... |
ORPHA:899 |
Multiple Sulfatase Deficiency |
|
Abnormality of peripheral nerve conduction, Optic atrophy, Abnormality of retinal pigmentation, C... |
ORPHA:585 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Cataract, Coloboma, Optic atrophy |
OMIM:612379 |
Retinoblastoma |
|
Retinoblastoma, Vitreous hemorrhage, Retinal calcification, Vitritis, Leukocoria |
OMIM:180200 |
Leber Congenital Amaurosis 14 |
|
Retinal dystrophy, Rod-cone dystrophy, Optic disc pallor |
OMIM:613341 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:145600 |
Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Cataract |
ORPHA:2410 |
Immunodeficiency 67 |
|
Increased circulating IgE level |
OMIM:607676 |
Cataracts, Spastic Paraparesis, And Speech Delay |
|
Cataract |
OMIM:619338 |
Immunodeficiency 95 |
|
Decreased circulating IgG3 level, Increased circulating IgG3 level |
OMIM:619773 |
Insulin Autoimmune Syndrome |
|
Increased circulating antibody level, Weight loss |
ORPHA:411593 |
Neurodevelopmental Disorder With Visual Defects And Brain Anomalies |
|
Rod-cone dystrophy, Optic atrophy, Torticollis, Astigmatism, Unilateral facial palsy |
OMIM:618547 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Weight loss, Hyperkalemia, Increased circulating renin level, Hyponatremia, Failure to thrive in ... |
ORPHA:171876 |
Craniorachischisis |
|
Spinal dysraphism, Myelomeningocele, Anencephaly, Sirenomelia, Cervical spina bifida |
ORPHA:63260 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Failure to thrive, Hyperkalemia, Hyponatremia |
OMIM:614736 |
Myoglobinuria, Acute Recurrent, Autosomal Recessive |
|
Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:268200 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Coloboma, Microcornea, Cataract, Ectopia pupillae, Sclerocornea |
OMIM:615877 |
Stiff Skin Syndrome |
|
Cataract |
OMIM:184900 |
Cataract 3, Multiple Types |
|
Sutural cataract, Nuclear pulverulent cataract, Cerulean cataract, Developmental cataract |
OMIM:601547 |
Congenital Sialidosis Type 2 |
|
Telangiectasia, Optic atrophy, Abnormal EKG, Developmental cataract, Hypoplasia of the fovea, Cat... |
ORPHA:93400 |
Immunodeficiency 60 And Autoimmunity |
|
Decreased circulating IgE, Decreased circulating IgA level, Decreased circulating total IgM, Decr... |
OMIM:618394 |
Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Hypertrophic cardiomyopathy, Optic disc pallor, Optic atrophy |
OMIM:612989 |
Baralle-Macken Syndrome |
|
Cafe-au-lait spot, Cataract, Hirsutism, Obesity, Dystonia |
OMIM:619255 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Failure to thrive, Alopecia of scalp, Panhypogammaglobulinemia, Increased circulating IgE level |
OMIM:602450 |
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Optic disc pallor, Retinal thinning |
OMIM:618970 |
Birk-Landau-Perez Syndrome |
|
Failure to thrive in infancy, Choreoathetosis, Long eyelashes, Hyperkalemia, Increased circulatin... |
OMIM:617595 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Brushfield spots, Elevated circulating long chain fatty acid concentration, Failure to thrive, Ca... |
OMIM:214110 |
Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Hypertrophic cardiomyopathy, Optic atrophy |
OMIM:618228 |
Vici Syndrome |
|
Abnormal macular morphology, Optic atrophy, Abnormality of retinal pigmentation, Cataract, Cardio... |
ORPHA:1493 |
Lacrimoauriculodentodigital Syndrome |
|
Keratoconjunctivitis, Limbal stem cell deficiency, Keratoconjunctivitis sicca, Corneal neovascula... |
ORPHA:2363 |
Noonan Syndrome 4 |
|
High anterior hairline, Sparse eyebrow, Curly hair, Large for gestational age, Blue irides |
OMIM:610733 |
X-Linked Spinocerebellar Ataxia Type 3 |
|
Optic atrophy |
ORPHA:85297 |
Noonan Syndrome 13 |
|
Cafe-au-lait spot, Broad eyebrow, Multiple lentigines, Blue irides, Low posterior hairline, Gener... |
OMIM:619087 |
Alpha-Mannosidosis, Adult Form |
|
Aortic regurgitation, Cataract, Optic disc pallor, Corneal opacity |
ORPHA:309288 |
Axenfeld-Rieger Syndrome, Type 1 |
|
Megalocornea, Rieger anomaly, Posterior embryotoxon, Abnormally prominent line of Schwalbe, Hypop... |
OMIM:180500 |
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction |
|
Cataract, Opto-chiasmatic atrophy, Optic atrophy, Cardiomyopathy |
OMIM:620089 |
Hyperostosis Frontalis Interna |
|
Obesity, Hypertrichosis |
OMIM:144800 |
Immunodeficiency 23 |
|
Failure to thrive, Increased circulating IgG level, Increased circulating IgE level, Increased ci... |
OMIM:615816 |
Pseudohypoaldosteronism Type 2 |
|
Hyperkalemia |
ORPHA:757 |
Charcot-Marie-Tooth Disease Type 4C |
|
Decreased number of peripheral myelinated nerve fibers, Optic atrophy, Decreased motor nerve cond... |
ORPHA:99949 |
Aspergillosis |
|
Keratitis, Increased circulating IgE level |
ORPHA:1163 |
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia |
|
Cataract |
ORPHA:1366 |
Trisomy 9P |
|
Abnormal pupil morphology |
ORPHA:236 |
Lead Poisoning |
|
Small for gestational age, Increased LDL cholesterol concentration, Decreased HDL cholesterol con... |
ORPHA:330015 |
Duane Retraction Syndrome |
|
Abnormal pupil morphology, Blepharospasm, Central heterochromia, Optic disc hypoplasia, Microcorn... |
ORPHA:233 |
Crouzon Syndrome |
|
Conjunctivitis, Iris coloboma, Optic atrophy |
ORPHA:207 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Alopecia, Decreased prealbumin level, Cachexia, Abnormal blood ion concentration, Increased circu... |
ORPHA:37042 |
Leber Optic Atrophy And Dystonia |
|
Athetosis, Dystonia, Leber optic atrophy, Optic atrophy |
OMIM:500001 |
Dystonia, Juvenile-Onset |
|
Leg dystonia, Oculogyric crisis, Generalized dystonia, Cataract |
OMIM:607371 |
Waardenburg Syndrome, Type 4C |
|
Premature graying of hair, White eyelashes, White eyebrow, Hypopigmented skin patches, White fore... |
OMIM:613266 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Generalized hypopigmentation, Ocular albinism, Iris hypopigmentation, Cataract, White hair |
ORPHA:2720 |
Immunodeficiency 64 With Lymphoproliferation |
|
Decreased lymphocyte proliferation in response to mitogen, Defective T cell proliferation, Failur... |
OMIM:618534 |
Flynn-Aird Syndrome |
|
Cataract, Rod-cone dystrophy |
ORPHA:2047 |
Leber Optic Atrophy |
|
Postural tremor, Central retinal vessel vascular tortuosity, Optic atrophy, Leber optic atrophy, ... |
OMIM:535000 |
Sialidosis Type 1 |
|
Retinopathy, Cataract, Tremor, Decreased nerve conduction velocity, Corneal opacity, Cherry red s... |
ORPHA:812 |
Trichinellosis |
|
Central retinal artery occlusion, Retinal hemorrhage, Conjunctivitis, Abnormal optic nerve morpho... |
ORPHA:863 |
Chediak-Higashi Syndrome |
|
Giant melanosomes in melanocytes, Hypopigmentation of the skin, Ocular albinism, Iris hypopigment... |
OMIM:214500 |
Pseudohypoaldosteronism, Type Iib |
|
Hyperchloremia, Hyperkalemia |
OMIM:614491 |
Pseudohypoaldosteronism, Type Iid |
|
Hyperchloremia, Hyperkalemia |
OMIM:614495 |
Warburg Micro Syndrome 3 |
|
Optic atrophy, Developmental cataract, Microcornea, Shallow anterior chamber, Cataract, Miosis |
OMIM:614222 |
Anterior Segment Dysgenesis 1 |
|
Ocular anterior segment dysgenesis, Posterior polar cataract, Microcornea, Peters anomaly, Opacif... |
OMIM:107250 |
Cortisone Reductase Deficiency 1 |
|
Alopecia, Obesity, Hirsutism |
OMIM:604931 |
Tetraamelia-Multiple Malformations Syndrome |
|
Optic atrophy, Septo-optic dysplasia, Microcornea, Iris coloboma, Cataract |
ORPHA:3301 |
Macrosomia Adiposa Congenita |
|
Obesity, Large for gestational age |
OMIM:248100 |
Refsum Disease |
|
Retinopathy, Abnormality of retinal pigmentation, Heart block, Cataract, Miosis, Cardiomyopathy |
ORPHA:773 |
Plague |
|
Hypotension, Mydriasis, Arrhythmia, Hematemesis, Tachycardia, Conjunctival hyperemia |
ORPHA:707 |
Hemochromatosis, Type 4 |
|
Cardiomyopathy, Cataract, Arrhythmia |
OMIM:606069 |
Retinoblastoma |
|
Retinoblastoma, Vitreous hemorrhage, Retinal calcification, Leukocoria, Subretinal pigment epithe... |
ORPHA:790 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertriglyceridemia, Childhood-onset truncal obesity, Obesity |
ORPHA:71529 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair |
ORPHA:98795 |
Genetic Hyperferritinemia Without Iron Overload |
|
Cataract |
ORPHA:254704 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Cataract, Tremor, Hematochezia, Pigmentary retinopathy |
ORPHA:79095 |
Subependymal Nodular Heterotopia |
|
Meningocele, Occipital encephalocele, Nasofrontal encephalocele, Myelomeningocele |
ORPHA:101030 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Decreased circulating total IgM, Decreased circulating IgG2 level, Absent specific antibody respo... |
OMIM:102700 |
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy |
|
Buphthalmos, Retinal dystrophy, Cataract |
ORPHA:370997 |
Xeroderma Pigmentosum, Complementation Group B |
|
Cataract, Decreased nerve conduction velocity, Pigmentary retinopathy, Optic atrophy |
OMIM:610651 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Choroideremia, Ocular albinism, Iris hypopigmentation, Hypopigmentation of hair, Cataract, Cornea... |
ORPHA:2719 |
Optic Atrophy 8 |
|
Abnormal auditory evoked potentials, Mitral regurgitation, Prolonged somatosensory evoked potenti... |
OMIM:616648 |
Juvenile Sialidosis Type 2 |
|
Cataract, Cherry red spot of the macula, Corneal opacity, Optic atrophy |
ORPHA:93399 |
Hyperkalemic Periodic Paralysis |
|
Hyponatremia, Hypokalemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
ORPHA:682 |
Blau Syndrome |
|
Iritis, Hypertension, Uveitis, Pericarditis, Nongranulomatous uveitis, Cystoid macular edema, Cat... |
OMIM:186580 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Abnormal hair morphology, Dystrophic fingernails, Increased circulating IgE level |
ORPHA:2314 |
Cone-Rod Dystrophy 3 |
|
Cone/cone-rod dystrophy, Attenuation of retinal blood vessels, Optic disc pallor, Bull's eye macu... |
OMIM:604116 |
Zellweger Syndrome |
|
Brushfield spots, Posterior embryotoxon, Abnormal chorioretinal morphology, Failure to thrive, Ca... |
ORPHA:912 |
Charcot-Marie-Tooth Disease Type 1E |
|
Abnormal pupil morphology, Slow pupillary light response, Tonic pupil, Decreased nerve conduction... |
ORPHA:90658 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Childhood-onset truncal obesity, Hypopigmentation of the skin, Failure to thrive, Red hair, Obesity |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Childhood-onset truncal obesity, Hypopigmentation of the skin, Failure to thrive, Red hair, Obesity |
ORPHA:71526 |
Cone-Rod Dystrophy 20 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy |
OMIM:615973 |
Waardenburg Syndrome, Type 1 |
|
Premature graying of hair, White eyelashes, Synophrys, White eyebrow, Hypoplastic iris stroma, Wh... |
OMIM:193500 |
Meckel Syndrome, Type 2 |
|
Meningocele, Anencephaly, Encephalocele, Intrauterine growth retardation |
OMIM:603194 |
Autosomal Dominant Optic Atrophy, Classic Form |
|
Temporal optic disc pallor, Morning glory anomaly, Optic atrophy, Cataract |
ORPHA:98673 |
Retinitis Pigmentosa 41 |
|
Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of... |
OMIM:612095 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Decreased circulating IgG2 level, Increased circulating IgM level, Decreased specific pneumococca... |
OMIM:615513 |
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development |
|
Cataract, Band keratopathy |
OMIM:604278 |
Alagille Syndrome |
|
Abnormal pupil morphology, Hypertension, Telangiectasia of the skin, Corneal dystrophy, Keratoconus |
ORPHA:52 |
Angelman Syndrome |
|
Hypopigmentation of the skin, Fair hair, Iris hypopigmentation, Astigmatism, Tremor, Keratoconus,... |
ORPHA:72 |
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Spina bifida |
OMIM:211960 |
Monilethrix |
|
Cataract |
ORPHA:573 |
Norrie Disease |
|
Abnormal pupil morphology, Optic atrophy, Hypoplasia of the iris, Anterior chamber synechiae, Abn... |
ORPHA:649 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Retinal degeneration, Cataract, Coloboma |
OMIM:615249 |
Pseudohypoaldosteronism, Type Iic |
|
Decreased circulating renin level, Hyperchloremia, Hyperkalemia |
OMIM:614492 |
Pseudohypoaldosteronism, Type Iie |
|
Hyperchloremia, Hyperkalemia |
OMIM:614496 |
Meckel Syndrome, Type 4 |
|
Meningocele, Encephalocele, Anencephaly, Hydrocephalus, Intrauterine growth retardation |
OMIM:611134 |
Phace Association |
|
Horner syndrome, Optic atrophy, Developmental cataract, Optic nerve hypoplasia, Increased retinal... |
OMIM:606519 |
Asthma, Short Stature, And Elevated Iga |
|
Increased circulating IgA level |
OMIM:208600 |
Hereditary Leiomyomatosis And Renal Cell Cancer |
|
Cataract |
ORPHA:523 |
Retinitis Pigmentosa 58 |
|
Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of... |
OMIM:613617 |
Congenital Disorder Of Glycosylation, Type Id |
|
Iris coloboma, Optic atrophy |
OMIM:601110 |
Intellectual Disability-Alacrima-Achalasia Syndrome |
|
Anisocoria |
ORPHA:289483 |
Hermansky-Pudlak Syndrome |
|
Hypopigmentation of the skin, Melanocytic nevus, Weight loss, Ocular albinism, Iris hypopigmentat... |
ORPHA:79430 |
Acrofrontofacionasal Dysostosis |
|
Brushfield spots, Aplasia/Hypoplasia of the eyebrow, Hypopigmented skin patches |
ORPHA:1784 |
Rere-Related Neurodevelopmental Syndrome |
|
Optic atrophy, Astigmatism, Iris coloboma, Peters anomaly, Chorioretinal coloboma |
ORPHA:494344 |
Hepatic Veno-Occlusive Disease |
|
Increased total bilirubin, Increased body weight |
ORPHA:890 |
Cataract 5, Multiple Types |
|
Lamellar cataract, Zonular cataract, Pulverulent cataract, Anterior polar cataract, Nuclear cataract |
OMIM:116800 |
Pgm3-Cdg |
|
Increased circulating IgG level, Reduced antigen-specific T cell proliferation, Failure to thrive... |
ORPHA:443811 |
Renal Hypoplasia, Bilateral |
|
Small for gestational age, Hyperkalemia, Failure to thrive, Astigmatism, Hyponatremia |
ORPHA:97362 |
Aminopterin/Methotrexate Embryofetopathy |
|
Meningocele, Spinal dysraphism, Encephalocele, Short stature, Anencephaly, Hydrocephalus, Holopro... |
ORPHA:1908 |
Schisis Association |
|
Spina bifida, Anencephaly, Encephalocele |
ORPHA:63862 |
Pseudohypoparathyroidism, Type Ib |
|
Hyperphosphatemia, Obesity, Hypocalcemia |
OMIM:603233 |
Oculofaciocardiodental Syndrome |
|
Microcornea, Ectopia lentis, Iris coloboma, Cataract, Retinal detachment |
ORPHA:2712 |
Trisomy 13 |
|
Optic atrophy, Aplasia/Hypoplasia of the iris, Iris coloboma, Cataract, Abnormal retinal vascular... |
ORPHA:3378 |
Stromme Syndrome |
|
Retinal vascular tortuosity, Microcornea, Optic nerve hypoplasia, Iris coloboma, Peters anomaly, ... |
OMIM:243605 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Obesity, Hypoalbuminemia |
ORPHA:88643 |
Peroxisome Biogenesis Disorder 10B |
|
Cataract |
OMIM:617370 |
Warburg Micro Syndrome 2 |
|
Developmental cataract, Cataract, Optic atrophy, Microcornea |
OMIM:614225 |
Chédiak-Higashi Syndrome |
|
Hypopigmentation of the skin, Iris hypopigmentation, Abnormal platelet function, Large clumps of ... |
ORPHA:167 |
Axial Spondylometaphyseal Dysplasia |
|
Rod-cone dystrophy, Peripheral retinal degeneration, Optic atrophy, Retinal dystrophy, Cataract |
ORPHA:168549 |
Chondrodysplasia Punctata 1, X-Linked Recessive |
|
Cataract |
OMIM:302950 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Reduced systolic function, Cataract, Dilated cardiomyopathy |
OMIM:618805 |
Adams-Oliver Syndrome 2 |
|
Developmental cataract, Optic atrophy |
OMIM:614219 |
Marinesco-Sjögren Syndrome |
|
Cataract, Optic atrophy |
ORPHA:559 |
Cataract 20, Multiple Types |
|
Cortical cataract, Sutural cataract, Lamellar cataract, Membranous cataract |
OMIM:116100 |
Charcot-Marie-Tooth Disease Type 4B2 |
|
Developmental glaucoma, Optic atrophy, Decreased distal sensory nerve action potential, Buphthalm... |
ORPHA:99956 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Decreased circulating total IgM, Decreased lymphocyte proliferation in response to mitogen, Decre... |
ORPHA:508533 |
Autoimmune Lymphoproliferative Syndrome |
|
Decreased circulating total IgM, Increased circulating antibody level, Increased circulating IgG ... |
ORPHA:3261 |
Immunodeficiency 22 |
|
Decreased circulating total IgM, Decreased circulating IgE, Failure to thrive, Decreased circulat... |
OMIM:615758 |
Retinitis Pigmentosa 49 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... |
OMIM:613756 |
Usher Syndrome Type 2 |
|
Iris hypopigmentation, Cataract |
ORPHA:231178 |
Jalili Syndrome |
|
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Macular atrophy, Bone spicule pigme... |
OMIM:217080 |
Aortic Aneurysm, Familial Thoracic 4 |
|
Abnormal iris pigmentation |
OMIM:132900 |
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome |
|
Hand tremor, Synophrys, Cafe-au-lait spot, Increased body weight |
ORPHA:589905 |
Optic Atrophy-Intellectual Disability Syndrome |
|
Keratoconus, Optic disc hypoplasia, Optic atrophy, Optic nerve hypoplasia |
ORPHA:401777 |
Myotonic Dystrophy 1 |
|
Facial diplegia, Cataract, Atrial flutter, First degree atrioventricular block, Atrial fibrillation |
OMIM:160900 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Hypokalemia, Tremor, Weight loss |
OMIM:613239 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Alopecia, Decreased circulating antibody level, Hyperkalemia, Alopecia totalis, Failure to thrive... |
ORPHA:293978 |
Nevus Comedonicus Syndrome |
|
Spina bifida, Spina bifida occulta |
ORPHA:64754 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Paroxysmal atrial tachycardia, Optic atrophy, Cardiac arrest, Retinal dystrophy, Congestive heart... |
ORPHA:49827 |
Familial Glucocorticoid Deficiency |
|
Weight loss, Hyperkalemia, Generalized hyperpigmentation, Failure to thrive, Tall stature, Hypona... |
ORPHA:361 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Temporal optic disc pallor, Abnormal retinal nerve fiber layer morphology, Optic atrophy, Motor a... |
ORPHA:1215 |
Congenital Tufting Enteropathy |
|
Cataract, Optic disc coloboma, Punctate keratitis, Corneal erosion |
ORPHA:92050 |
Warburg Micro Syndrome 4 |
|
Developmental cataract, Decreased motor nerve conduction velocity, Optic atrophy, Microcornea |
OMIM:615663 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Alopecia, Hypokalemia, Cachexia, Cataract, Hyperpigmentation of the skin, Hypocalcemia, Hypomagne... |
OMIM:175500 |
Hermansky-Pudlak Syndrome 9 |
|
Hypopigmentation of the skin, Ocular albinism, Abnormal platelet aggregation |
OMIM:614171 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Increased circulating antibody level |
OMIM:247800 |
Fryns Microphthalmia Syndrome |
|
Neural tube defect |
OMIM:600776 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Brushfield spots, Elevated circulating phytanic acid concentration, Small for gestational age, In... |
OMIM:614866 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Decreased T cell activation, Defective T cell proliferation, Increased circulating IgE level, Fai... |
OMIM:618213 |
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities |
|
Retinal arteriolar constriction, Optic atrophy |
OMIM:249660 |
Micro Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation, Microcornea, Cataract, Retinal coloboma |
ORPHA:2510 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Aganglionic megacolon, Corneal neovascularization, Hypertension, Keratitis, Opacification of the ... |
OMIM:308205 |
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium |
|
Retinal vascular tortuosity, Abnormal optic disc morphology, Vitreoretinopathy |
ORPHA:440727 |
Mu-Heavy Chain Disease |
|
Increased circulating antibody level, Weight loss |
ORPHA:100024 |
Oculocerebrofacial Syndrome, Kaufman Type |
|
Optic atrophy, Choroideremia, Microcornea, Chorioretinal dystrophy, Abnormal optic nerve morphology |
ORPHA:2707 |
Congenital Isolated Acth Deficiency |
|
Hyperkalemia, Hyponatremia |
ORPHA:199296 |
Papillorenal Syndrome |
|
Morning glory anomaly, Lens luxation, Macular degeneration, Hypertension, Cataract, Chorioretinal... |
OMIM:120330 |
Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Weight loss, Transient hypophosphatemia, Hyperkalemia, Mildly elevated crea... |
ORPHA:79102 |
Autosomal Dominant Optic Atrophy And Cataract |
|
Postural tremor, Resting tremor, Optic atrophy, Cerulean cataract, Anterior subcapsular cataract,... |
ORPHA:67036 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Cataract, Persistent pupillary membrane, Microcornea |
OMIM:257850 |
Null Syndrome |
|
Abnormality of peripheral nerve conduction, Peripheral demyelination, Optic atrophy, Decreased ne... |
ORPHA:280234 |
Chiari Malformation Type Ii |
|
Spina bifida, Hydrocephalus, Myelomeningocele, Cervical myelopathy |
OMIM:207950 |
Waardenburg Syndrome |
|
Abnormality of skin pigmentation, Abnormal eyebrow morphology, Premature graying of hair, Synophr... |
ORPHA:3440 |
Congenital Analbuminemia |
|
Small for gestational age, Increased circulating antibody level, Increased alpha-globulin, Hypopr... |
ORPHA:86816 |
Body Mass Index Quantitative Trait Locus 20 |
|
Obesity, Tall stature |
OMIM:618406 |
Alport Syndrome 2, Autosomal Recessive |
|
Hypertension, Cataract, Anterior lenticonus, Corneal erosion |
OMIM:203780 |
Jaberi-Elahi Syndrome |
|
Optic atrophy, Choreoathetosis, Cataract, Tremor, Dystonia |
OMIM:617988 |
Polycystic Ovary Syndrome 1 |
|
Obesity, Hirsutism |
OMIM:184700 |
Deafness-Hypogonadism Syndrome |
|
Heterochromia iridis |
ORPHA:90646 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Increased circulating antibody level, Failure to thrive |
OMIM:615285 |
Immunodeficiency 33 |
|
Decreased circulating total IgM, Increased circulating IgA level |
OMIM:300636 |
Coenzyme Q10 Deficiency, Primary, 2 |
|
Pulmonary arterial hypertension, Aortic regurgitation, Mitral regurgitation, Optic atrophy |
OMIM:614651 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Buphthalmos, Cataract, Peters anomaly, Persistent pupillary membrane |
OMIM:613150 |
Laurence-Moon Syndrome |
|
Pigmentary retinopathy, Obesity, Chorioretinal atrophy |
OMIM:245800 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Alopecia, Decreased circulating complement C3 concentration, Absent isohemagglutinin level, Reduc... |
OMIM:615559 |
Familial Hypoaldosteronism |
|
Failure to thrive, Hyperkalemia, Increased circulating renin level, Hyponatremia |
ORPHA:427 |
Acute Adrenal Insufficiency |
|
Hyperuricemia, Weight loss, Sparse axillary hair, Hyperkalemia, Increased circulating renin level... |
ORPHA:95409 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hyperkalemia, Increased circulating renin level, Failure to thrive, Hirsutism, Hyponatremia, Hype... |
ORPHA:90791 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Reduced natural killer cell activity, Decreased circulating antibody level, Elevated circulating ... |
OMIM:308240 |
Premature Aging Syndrome, Okamoto Type |
|
Cataract |
OMIM:601811 |
Donnai-Barrow Syndrome |
|
Hypoplasia of the iris, Retinal dystrophy, Iris coloboma, Cataract, Retinal detachment |
OMIM:222448 |
Familial Isolated Hypoparathyroidism |
|
Cataract, Arrhythmia |
ORPHA:2238 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Abnormal circulating IgG level, Reduced natural killer cell activity, Aplasia of the eccrine swea... |
OMIM:300291 |
Caudal Duplication |
|
Spina bifida, Myelomeningocele |
ORPHA:1756 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Cataract, Zonular cataract, Optic nerve hypoplasia |
OMIM:222765 |
Nephronophthisis 2 |
|
Elevated circulating creatinine concentration, Hyperkalemia |
OMIM:602088 |
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation |
|
Astigmatism, Dystonia, Optic atrophy |
OMIM:616875 |
Hereditary Mucoepithelial Dysplasia |
|
Corneal dystrophy, Cataract |
ORPHA:1839 |
Oligoarticular Juvenile Idiopathic Arthritis |
|
Anterior chamber synechiae, Uveitis, Cataract, Band keratopathy |
ORPHA:85410 |
Genetic Recurrent Myoglobinuria |
|
Highly elevated creatine kinase, Hypocalcemia, Hyperkalemia, Hyperphosphatemia |
ORPHA:99845 |
1Q41Q42 Microdeletion Syndrome |
|
Abnormality iris morphology |
ORPHA:250999 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Cataract, Corneal erosion |
OMIM:614878 |
C3 Glomerulopathy |
|
Central serous chorioretinopathy, Decreased circulating complement C3 concentration, Paraproteine... |
ORPHA:329918 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Cataract |
OMIM:146200 |
Hypokalemic Periodic Paralysis, Type 2 |
|
Hypokalemia |
OMIM:613345 |
Cutis Marmorata Telangiectatica Congenita |
|
Retinal detachment, Leukocoria, Telangiectasia of the skin |
ORPHA:1556 |
Cerebrotendinous Xanthomatosis |
|
Abnormality of central somatosensory evoked potentials, Angina pectoris, Myocardial infarction, C... |
OMIM:213700 |
Late-Onset Isolated Acth Deficiency |
|
Hyperuricemia, Weight loss, Hyperkalemia, Failure to thrive, Hypercalcemia, Hyponatremia, Vitiligo |
ORPHA:199299 |
Prader-Willi Syndrome |
|
Hypopigmentation of the skin, Generalized hypopigmentation, Frontal upsweep of hair, Iris hypopig... |
OMIM:176270 |
Wildervanck Syndrome |
|
Pseudopapilledema |
OMIM:314600 |
Malignant Atrophic Papulosis |
|
Ischemic stroke, Myocardial infarction, Cataract, Gastrointestinal hemorrhage, Telangiectasia of ... |
ORPHA:679 |
Developmental Malformations-Deafness-Dystonia Syndrome |
|
Cataract, Generalized dystonia |
ORPHA:79107 |
Blue Diaper Syndrome |
|
Hyperphosphatemia, Hypercalcemia, Increased body weight |
ORPHA:94086 |
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies |
|
Optic disc coloboma, Corneal erosion |
OMIM:270420 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Optic atrophy, Cone/cone-rod dystrophy, Retinal degeneration, Arrhythmia, Cardiomyopathy |
OMIM:249270 |
Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Hyperkalemia, Elevated creatine kinase after exercise |
ORPHA:57 |
Wyburn-Mason Syndrome |
|
Iris hypopigmentation |
ORPHA:53719 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Increased circulating IgG level, Increased circulating IgM level |
OMIM:619220 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Hypopigmentation of the skin, Small for gestational age, Iris hypopigmentation, Failure to thrive... |
ORPHA:98754 |
Koolen-De Vries Syndrome |
|
Small for gestational age, Iris hypopigmentation, Fair hair, Failure to thrive, Cataract, Abnorma... |
OMIM:610443 |
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Cataract, Head tremor, Resting tremor, Optic atrophy |
ORPHA:314404 |
Microphthalmia, Lenz Type |
|
Microcornea, Iris coloboma, Cataract, Chorioretinal coloboma, Optic disc coloboma |
ORPHA:568 |
Amaurosis-Hypertrichosis Syndrome |
|
Retinal dystrophy, Optic atrophy, Cone/cone-rod dystrophy |
ORPHA:1021 |
Muckle-Wells Syndrome |
|
Conjunctivitis, Uveitis, Optic atrophy, Vasculitis |
ORPHA:575 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Keratoconjunctivitis sicca, Microcornea, Cataract, Corneal dystrophy, Sclerocornea |
ORPHA:1806 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Brushfield spots, Elevated circulating long chain fatty acid concentration, Failure to thrive, Ca... |
OMIM:214100 |
Immunodeficiency 27A |
|
Increased circulating IgG level, Increased circulating IgM level, Weight loss, Hypoalbuminemia |
OMIM:209950 |
Ifap Syndrome 2 |
|
Keratitis, Cataract, Keratoconjunctivitis sicca |
OMIM:619016 |
Thrombocytopenia 1 |
|
Increased circulating IgE level, Increased circulating IgA level |
OMIM:313900 |
Apparent Mineralocorticoid Excess |
|
Small for gestational age, Failure to thrive, Hypokalemia, Decreased circulating renin level |
OMIM:218030 |
Megalocornea-Intellectual Disability Syndrome |
|
Megalocornea, Hypoplasia of the iris, Astigmatism, Iridodonesis, Abnormal anterior chamber morpho... |
ORPHA:2479 |
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Conjunctivitis, Keratitis, Cataract |
OMIM:612843 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Failure to thrive, Elevated circulating C-reactive protein concentration, Increased circulating I... |
OMIM:618048 |
Coloboma Of Optic Nerve |
|
Retinal detachment, Optic disc coloboma |
OMIM:120430 |
Classic Homocystinuria |
|
Pulmonary embolism, Optic atrophy, Cerebral ischemia, Intracranial hemorrhage, Abnormality of ret... |
ORPHA:394 |
Igg4-Related Submandibular Gland Disease |
|
Increased circulating IgG4 level, Increased circulating antibody level, Increased circulating IgE... |
ORPHA:449432 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Exaggerated startle response, Optic atrophy, Dilated cardiomyopathy, Retinal dysplasia, Cataract,... |
OMIM:253800 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Keratoconjunctivitis sicca, Optic atrophy, Microcornea |
OMIM:234050 |
Usher Syndrome |
|
Abnormality of retinal pigmentation, Astigmatism, Cataract, Hypertrophic cardiomyopathy, Vestibul... |
ORPHA:886 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Hypopigmentation of the skin, Small for gestational age, Iris hypopigmentation, Failure to thrive... |
ORPHA:98793 |
Neuroleptic Malignant Syndrome |
|
Hyperphosphatemia, Hyperuricemia, Oculogyric crisis, Hyperkalemia, Elevated circulating creatine ... |
ORPHA:94093 |
Humero-Radial Synostosis |
|
Meningocele |
ORPHA:3265 |
Myeloma, Multiple |
|
Paraproteinemia |
OMIM:254500 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Small for gestational age, Hyperphosphatemia, Melanocytic nevus, Blue irides |
OMIM:101800 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Exaggerated startle response, Optic atrophy, Motor axonal neuropathy, Sensory axonal neuropathy, ... |
OMIM:609541 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Hypopigmentation of the skin, Small for gestational age, Iris hypopigmentation, Failure to thrive... |
ORPHA:177904 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Hypopigmentation of the skin, Small for gestational age, Iris hypopigmentation, Failure to thrive... |
ORPHA:177901 |
Juvenile Xanthogranuloma |
|
Iritis, Asymmetry of iris pigmentation, Multiple cafe-au-lait spots, Uveitis |
ORPHA:158000 |
Kapur-Toriello Syndrome |
|
Iris coloboma, Cataract, Retinal coloboma |
OMIM:244300 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Buphthalmos, Retinal dystrophy, Cataract |
OMIM:616538 |
Liddle Syndrome 3 |
|
Hypokalemia |
OMIM:618126 |
Cataract 39, Multiple Types |
|
Anterior polar cataract, Lamellar cataract, Developmental cataract |
OMIM:615188 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Tremor, Increased body weight |
ORPHA:276608 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Megalocornea, Coloboma, Optic atrophy, Retinal atrophy, Optic nerve hypoplasia, Retinal dysplasia... |
OMIM:236670 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Abnormal optic disc morphology, Abnormal lens morphology, Optic atrophy |
ORPHA:363417 |
Albinism, Ocular, Type I |
|
Giant melanosomes in melanocytes, Ocular albinism |
OMIM:300500 |
Thoraco-Abdominal Enteric Duplication |
|
Meningocele |
ORPHA:1759 |
Knobloch Syndrome |
|
Macular degeneration, Vitreoretinopathy, Ectopia lentis, Cataract, Retinal detachment, Abnormal v... |
ORPHA:1571 |
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects |
|
Right bundle branch block, Optic atrophy, Astigmatism, Mitral regurgitation, Tricuspid regurgitation |
OMIM:619576 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Decreased number of peripheral myelinated nerve fibers, Exaggerated startle response, Optic atrop... |
ORPHA:320406 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Telangiectasia, Macular edema, Punctate vasculitis skin lesions, Raynaud phenomenon, Abnormal ret... |
ORPHA:247691 |
Nail-Patella Syndrome |
|
Lester's sign, High anterior hairline, Abnormal iris pigmentation, Primary congenital glaucoma, A... |
ORPHA:2614 |
8Q21.11 Microdeletion Syndrome |
|
Iris hypopigmentation, Cataract, Corneal opacity, Sclerocornea |
ORPHA:284160 |
Prader-Willi-Like Syndrome |
|
Hypopigmentation of the skin, Small for gestational age, Iris hypopigmentation, Failure to thrive... |
ORPHA:398073 |
Acropectorovertebral Dysplasia |
|
Spina bifida |
ORPHA:957 |
Ataxia-Oculomotor Apraxia 4 |
|
Elevated circulating alpha-fetoprotein concentration, Hypercholesterolemia, Obesity, Dystonia, Hy... |
OMIM:616267 |
Cleft Palate, Proliferative Retinopathy, And Developmental Delay |
|
Retinal neovascularization |
OMIM:619074 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyponatremia, Failure to thrive, Hyperkalemia, Hyperpigmentation of the skin |
ORPHA:90790 |
Opticocochleodentate Degeneration |
|
Optic atrophy |
OMIM:258700 |
Hermansky-Pudlak Syndrome 7 |
|
Albinism, Impaired platelet aggregation, Ocular albinism |
OMIM:614076 |
Werner Syndrome |
|
Retinal degeneration, Cataract |
OMIM:277700 |
Hypocalcemia, Autosomal Dominant 1 |
|
Hyperphosphatemia, Hypokalemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia |
OMIM:601198 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Optic nerve hypoplasia, Retinal dysplasia, Remnants of the hyaloid vascular system, Peters anomal... |
OMIM:614643 |
Prader-Willi Syndrome Due To Translocation |
|
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair, Stellate iris, Hyp... |
ORPHA:177907 |
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome |
|
Astigmatism, Optic atrophy |
ORPHA:480898 |
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy |
|
Increased serum prostaglandin E2, Hypokalemia, Abnormal magnesium concentration, Increased circul... |
OMIM:241150 |
Trichothiodystrophy 3, Photosensitive |
|
Tiger tail banding, Trichorrhexis nodosa, Brittle hair, Developmental cataract, Failure to thrive... |
OMIM:616395 |
Acrodysostosis With Multiple Hormone Resistance |
|
Hyperphosphatemia, Fair hair, Blue irides, Red hair, Hypocalcemia, Obesity |
ORPHA:280651 |
Cataract 30, Multiple Types |
|
Posterior polar cataract, Pulverulent cataract, Diffuse nuclear cataract |
OMIM:116300 |
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome |
|
Decreased corneal thickness, Abnormal optic disc morphology, Congenital stationary night blindness |
ORPHA:293967 |
Phace Syndrome |
|
Retinal vascular malformation, Lens coloboma, Optic nerve hypoplasia, Iris coloboma, Heterochromi... |
ORPHA:42775 |
Autoimmune Lymphoproliferative Syndrome |
|
Increased circulating IgA level, Increased circulating IgM level, Reduced delayed hypersensitivit... |
OMIM:601859 |
Igg4-Related Kidney Disease |
|
Decreased retinol-binding protein level, Decreased circulating complement C3 concentration, Incre... |
ORPHA:449395 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Decreased lymphocyte proliferation in response to mitogen, Increased circulating antibody level, ... |
ORPHA:169160 |
Kenny-Caffey Syndrome, Type 2 |
|
Developmental cataract, Papilledema, Retinal calcification |
OMIM:127000 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Increased circulating free fatty acid level, Large for gestational age, Truncal obesity |
ORPHA:293964 |
Mirage Syndrome |
|
Decreased body weight, Hyperkalemia, Hyponatremia |
OMIM:617053 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Spina bifida, Intrauterine growth retardation, Short stature |
ORPHA:1327 |
Jalili Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:1873 |
Megalocornea-Mental Retardation Syndrome |
|
Hypoplasia of the iris, Megalocornea, Iridodonesis |
OMIM:249310 |
Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Increased circulating IgA level |
OMIM:314000 |
Sirenomelia |
|
Spina bifida, Sirenomelia |
ORPHA:3169 |
Bardet-Biedl Syndrome 20 |
|
Rod-cone dystrophy, Papilledema, Astigmatism, Retinal vascular tortuosity |
OMIM:619471 |
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome |
|
Cataract, Optic atrophy |
ORPHA:543470 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Failure to thrive, Hypokalemia |
OMIM:602722 |
Addison Disease |
|
Hyperuricemia, Weight loss, Sparse axillary hair, Hyperkalemia, Increased circulating renin level... |
ORPHA:85138 |
Adult-Onset Nemaline Myopathy |
|
Paraproteinemia, Mildly elevated creatine kinase |
ORPHA:171442 |
Baraitser-Winter Cerebrofrontofacial Syndrome |
|
Microcornea, Failure to thrive, Iris coloboma, Heterochromia iridis, Low posterior hairline, High... |
ORPHA:2995 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type |
|
Spotty hypopigmentation, Synophrys, Hirsutism, Abnormal hair whorl, Low posterior hairline, Nail ... |
OMIM:300860 |
Acrofrontofacionasal Dysostosis 1 |
|
Iris atrophy, Optic atrophy |
OMIM:201180 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Cataract, Hyperkalemia, Nuclear cataract, Conjugated hyperbilirubinemia |
OMIM:608885 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Pterygium, Hypertension, Iris coloboma, Atrioventricular block, Papilledema |
ORPHA:371428 |
Autoimmune Polyendocrinopathy Type 1 |
|
Cataract, Opacification of the corneal stroma |
ORPHA:3453 |
Mevalonic Aciduria |
|
Cataract, Optic disc pallor, Nuclear cataract, Attenuation of retinal blood vessels |
OMIM:610377 |
Congenital Hypothyroidism |
|
Hypotension, Optic atrophy, Hypertension, Cataract, Arrhythmia |
ORPHA:442 |
Bardet-Biedl Syndrome 3 |
|
Obesity, Pigmentary retinopathy |
OMIM:600151 |
Histiocytoid Cardiomyopathy |
|
Supraventricular tachycardia, Megalocornea, Right bundle branch block, Optic atrophy, Wolff-Parki... |
ORPHA:137675 |
3Q29 Microduplication Syndrome |
|
Iris coloboma, Sclerocornea, Aniridia, Cataract |
ORPHA:251038 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Hypokalemia, Weight loss |
OMIM:188580 |
Multiple System Atrophy 1, Susceptibility To |
|
Orthostatic hypotension, Abnormal autonomic nervous system physiology, Tremor, Iris atrophy |
OMIM:146500 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Increased body mass index, Increased body weight |
OMIM:614450 |
Oculodentodigital Dysplasia |
|
Optic atrophy, Microcornea, Cataract, Arrhythmia, Abnormality iris morphology |
ORPHA:2710 |
Familial Pseudohyperkalemia |
|
Hyperkalemia |
ORPHA:90044 |
Ramon Syndrome |
|
Axenfeld anomaly, Optic disc pallor, Pigmentary retinopathy, Telangiectasia |
OMIM:266270 |
Hyperaldosteronism, Familial, Type Ii |
|
Hypokalemia |
OMIM:605635 |
Crouzon Syndrome |
|
Conjunctivitis, Keratitis, Optic atrophy |
OMIM:123500 |
Osteoporosis-Pseudoglioma Syndrome |
|
Retinal calcification, Absent anterior chamber of the eye, Exudative retinopathy, Vitreoretinopat... |
OMIM:259770 |
Cataract 31, Multiple Types |
|
Posterior subcapsular cataract, Nuclear cataract, Anterior subcapsular cataract |
OMIM:605387 |
Wiskott-Aldrich Syndrome |
|
Decreased circulating total IgM, Reduced natural killer cell activity, Abnormal delayed hypersens... |
OMIM:301000 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Histiocytoid cardiomyopathy, Iris coloboma, Peters anomaly, Cataract, Junctional ectopic tachycar... |
OMIM:309801 |
Ocular Albinism With Late-Onset Sensorineural Deafness |
|
Ocular albinism |
ORPHA:1000 |
Vici Syndrome |
|
Hypopigmentation of the skin, Decreased T cell activation, Ocular albinism, Albinism, Decreased c... |
OMIM:242840 |
Incontinentia Pigmenti |
|
Retinal hemorrhage, Retinal vascular proliferation, Optic atrophy, Uveitis, Hypoplasia of the fov... |
OMIM:308300 |
Xfe Progeroid Syndrome |
|
Corneal scarring, Attenuation of retinal blood vessels, Hypertension, Optic atrophy |
OMIM:610965 |
Mitochondrial Complex I Deficiency, Nuclear Type 27 |
|
Optic atrophy |
OMIM:618248 |
Hermansky-Pudlak Syndrome 6 |
|
Albinism, Hypopigmentation of the skin, Impaired ADP-induced platelet aggregation, Ocular albinism |
OMIM:614075 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Keratoconjunctivitis, Iridocyclitis, Cataract, Perifoveal ring of hyperautofluorescence, Pigmenta... |
OMIM:240300 |
Cockayne Syndrome Type 1 |
|
Conjunctivitis, Abnormality of peripheral nerve conduction, Optic atrophy, Absent brainstem audit... |
ORPHA:90321 |
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome |
|
Anisocoria, Orthostatic hypotension |
OMIM:615510 |
Hyperoxaluria, Primary, Type I |
|
Retinopathy, Optic atrophy, Arterial occlusion, Intermittent claudication, Choroidal neovasculari... |
OMIM:259900 |
Leishmaniasis |
|
Increased circulating antibody level, Weight loss, Hypoalbuminemia |
ORPHA:507 |
Agammaglobulinemia, X-Linked |
|
Complete or near-complete absence of specific antibody response to Haemophilus influenzae type b ... |
OMIM:300755 |
Liddle Syndrome |
|
Hypokalemia |
ORPHA:526 |
Acro-Renal-Ocular Syndrome |
|
Coloboma, Aganglionic megacolon, Optic disc hypoplasia, Microcornea, Iris coloboma, Cataract, Cho... |
ORPHA:959 |
Isolated Klippel-Feil Syndrome |
|
Spina bifida |
ORPHA:2345 |
Posterior Meningocele |
|
Meningocele, Neural tube defect, Occipital meningocele, Hydrocephalus, Lipomyelomeningocele |
ORPHA:268810 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Tremor, Choreoathetosis, Increased circulating IgG level |
ORPHA:206594 |
Cataract 15, Multiple Types |
|
Cortical cataract, Lamellar cataract, Nuclear cataract |
OMIM:615274 |
Cataract 33, Multiple Types |
|
Cortical cataract, Lamellar cataract, Nuclear cataract |
OMIM:611391 |
Interstitial Lung Disease 2 |
|
Increased circulating antibody level |
OMIM:178500 |
O'Sullivan-Mcleod Syndrome |
|
Increased circulating antibody level, Tremor |
ORPHA:99965 |
Hypokalemic Periodic Paralysis, Type 1 |
|
Hypokalemia |
OMIM:170400 |
Oculocutaneous Albinism Type 5 |
|
Ocular albinism |
ORPHA:370091 |
Hermansky-Pudlak Syndrome 1 |
|
Hypopigmentation of the skin, Melanocytic nevus, Ocular albinism, Albinism, Freckles in sun-expos... |
OMIM:203300 |
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome |
|
Conjunctival telangiectasia, Head tremor, Optic atrophy |
ORPHA:95433 |
Weill-Marchesani Syndrome 2 |
|
Lens luxation, Congestive heart failure, Ectopia lentis, Astigmatism, Shallow anterior chamber, C... |
OMIM:608328 |
Triploidy |
|
Meningocele, Holoprosencephaly, Hydrocephalus, Intrauterine growth retardation |
ORPHA:3376 |
Hermansky-Pudlak Syndrome 4 |
|
Albinism, Ocular albinism |
OMIM:614073 |
Hyperinsulinism Due To Hnf4A Deficiency |
|
Large for gestational age, Abnormal circulating fatty-acid concentration, Tremor, Hypophosphatemi... |
ORPHA:263455 |
Chilblain Lupus |
|
Increased circulating antibody level |
ORPHA:90280 |
Body Mass Index Quantitative Trait Locus 19 |
|
Hypertriglyceridemia, Obesity, Hyperlipidemia |
OMIM:617885 |
Cystinosis |
|
Failure to thrive, Hypophosphatemia, Corneal opacity, Hypokalemia |
ORPHA:213 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Increased circulating antibody level |
OMIM:202700 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Megalocornea, Hypoplasia of the retina, Coloboma, Optic atrophy, Retinal atrophy, Retinal degener... |
OMIM:253280 |
Cerebrocostomandibular Syndrome |
|
Meningocele, Myelomeningocele, Short stature, Spina bifida, Hydranencephaly, Intrauterine growth ... |
ORPHA:1393 |
Neurofibromatosis Type 1 |
|
Melanocytic nevus, Generalized hyperpigmentation, Hypopigmented skin patches, Abnormality of reti... |
ORPHA:636 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Increased circulating antibody level, Decreased lymphocyte apoptosis |
OMIM:614470 |
Renal Tubular Acidosis, Distal, 1 |
|
Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia |
OMIM:179800 |
Halperin-Birk Syndrome |
|
Developmental cataract, Optic atrophy |
OMIM:618651 |
Attenuated Chédiak-Higashi Syndrome |
|
Generalized hypopigmentation, Ocular albinism |
ORPHA:352723 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Meningocele, Short stature, Spina bifida occulta, Intrauterine growth retardation, Umbilical hernia |
ORPHA:2311 |
Multiple Myeloma |
|
Weight loss, Decreased circulating antibody level, Increased circulating IgA level, Tall stature,... |
ORPHA:29073 |
Igg4-Related Ophthalmic Disease |
|
Keratitis, Increased circulating IgG4 level, Increased circulating IgE level, Elevated circulatin... |
ORPHA:449563 |
Abcd Syndrome |
|
Albinism, White eyelashes, White eyebrow, Large for gestational age |
OMIM:600501 |
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Generalized bronze hyperpigmentation, Abnormal circulating cholesterol concentration, Hyperkalemi... |
ORPHA:168558 |
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome |
|
Intention tremor, Optic atrophy, Vestibular areflexia |
ORPHA:504476 |
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities |
|
Blepharospasm, Optic atrophy, Optic disc pallor, Craniofacial dystonia, Athetosis, Dystonia, Pigm... |
OMIM:617282 |
Cockayne Syndrome Type 3 |
|
Retinal hemorrhage, Abnormality of peripheral nerve conduction, Lentiglobus, Retinal atrophy, Ret... |
ORPHA:90324 |
Superficial Siderosis |
|
Abnormality of the brachial nerve plexus, Internal hemorrhage, Anisocoria, Subarachnoid hemorrhag... |
ORPHA:247245 |
Macrocephaly/Autism Syndrome |
|
Decreased circulating antibody level, Large for gestational age, Overgrowth, Coarse hair, Obesity |
OMIM:605309 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Generalized bronze hyperpigmentation, Abnormal circulating cholesterol concentration, Hyperkalemi... |
ORPHA:289548 |
Anophthalmia Plus Syndrome |
|
Spina bifida |
ORPHA:1104 |
Blau Syndrome |
|
Pulmonary arterial hypertension, Retinopathy, Abnormal choroid morphology, Iridocyclitis, Facial ... |
ORPHA:90340 |
Simpson-Golabi-Behmel Syndrome |
|
Increased circulating IgE level, Supernumerary nipple, Tall stature |
ORPHA:373 |
Erythema Elevatum Diutinum |
|
Increased circulating antibody level |
ORPHA:90000 |
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome |
|
Episodic hypokalemia, Hypomagnesemia |
ORPHA:564178 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Failure to thrive, Hypokalemia |
OMIM:611590 |
Lysosomal Acid Lipase Deficiency |
|
Weight loss, Cachexia, Hyperkalemia, Failure to thrive, Hypercholesterolemia, Hyponatremia, Hyper... |
ORPHA:275761 |
Nail-Patella Syndrome |
|
Lester's sign, Microcornea, Antecubital pterygium, Cataract, Keratoconus, Microphakia |
OMIM:161200 |
Fabry Disease |
|
Mucosal telangiectasiae, Optic atrophy, Transient ischemic attack, Bundle branch block, Telangiec... |
ORPHA:324 |
Caffey Disease |
|
Increased circulating antibody level |
ORPHA:1310 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Failure to thrive, Increased circulating IgG level |
OMIM:618495 |
Combined Oxidative Phosphorylation Deficiency 29 |
|
Retinopathy, Axonal degeneration, Optic atrophy, Optic neuropathy, Dystonia |
OMIM:616811 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
White eyelashes, Torticollis, White eyebrow, Hypopigmented skin patches, White forelock, Heteroch... |
OMIM:609136 |
De Sanctis-Cacchione Syndrome |
|
Conjunctivitis, Telangiectasia, Optic atrophy, Choreoathetosis, Keratitis, Axonal degeneration |
OMIM:278800 |
Prolactin Deficiency With Obesity And Enlarged Testes |
|
Obesity |
OMIM:264120 |
Scalp-Ear-Nipple Syndrome |
|
Supraventricular tachycardia, Congestive heart failure, Developmental cataract, Hypertension, Iri... |
OMIM:181270 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Hypokalemia, Increased circulating renin level, Failure to thrive, Hypochloremia, Hyponatremia |
OMIM:214700 |
Neuroocular Syndrome |
|
Brushfield spots, Brittle hair, Synophrys, Long eyelashes, Lens coloboma, Microcornea, Iris colob... |
OMIM:619539 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Obesity, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Elevat... |
OMIM:618620 |
Smith-Magenis Syndrome |
|
Hypercholesterolemia, Synophrys, Hypertriglyceridemia, Increased body weight |
OMIM:182290 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Failure to thrive, Increased circulating IgA level, Sparse hair, Elevated circulating C-reactive ... |
OMIM:615934 |
Malignant Hyperthermia Of Anesthesia |
|
Hyperphosphatemia, Hyperkalemia, Elevated creatine kinase after exercise |
ORPHA:423 |
Inflammatory Pseudotumor Of The Liver |
|
Increased hepatitis B virus antibody level, Weight loss, Elevated circulating alpha-fetoprotein c... |
ORPHA:90003 |
Pituitary Adenoma 4, Acth-Secreting |
|
Hypokalemia, Obesity, Abdominal obesity, Hirsutism |
OMIM:219090 |
Hermansky-Pudlak Syndrome 10 |
|
Albinism, Dystonia, Ocular albinism |
OMIM:617050 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Decreased lymphocyte proliferation in response to mitogen, Abnormal immunoglobulin level, Failure... |
ORPHA:276 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Ischemic stroke, Hypovolemia, Transient ischemic attack, Hypertension, Aortic regurgitation, Abno... |
ORPHA:91387 |
Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hypokalemia, Hypochloremia, Increased circulating renin level, Hyponatremia |
OMIM:300971 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Developmental cataract, Papilledema, Retinal calcification |
ORPHA:93325 |
Czeizel-Losonci Syndrome |
|
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Spina bifida |
ORPHA:2437 |
Gapo Syndrome |
|
Megalocornea, Optic atrophy, Retinal arteriolar tortuosity, Shallow anterior chamber, Keratoconus... |
OMIM:230740 |
Insulin-Resistance Syndrome Type B |
|
Decreased circulating complement factor B concentration, Alopecia, Abnormal circulating lipid con... |
ORPHA:2298 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Sparse eyebrow, Sparse scalp hair, Generalized hypopigmentation, Fair hair, Sparse axillary hair,... |
OMIM:604292 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Elevated circulating C-reactive protein concentration, Failure to thrive in infancy, Increased ci... |
OMIM:617099 |
East Syndrome |
|
Increased circulating renin level, Hypokalemia, Hypomagnesemia, Action tremor |
ORPHA:199343 |
Prolidase Deficiency |
|
Increased circulating antibody level, Failure to thrive, Facial hirsutism, Low posterior hairline |
OMIM:170100 |
Fanconi-Bickel Syndrome |
|
Failure to thrive, Hypophosphatemia, Hypouricemia, Hypokalemia |
OMIM:227810 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Red hair, Hyperbilirubinemia, Obesity |
OMIM:609734 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Increased circulating antibody level, Elevated circulating creatine kinase concentration, Elevate... |
OMIM:606002 |
Fountain Syndrome |
|
Spina bifida occulta, Short stature, Spina bifida |
ORPHA:3219 |
Tularemia |
|
Increased circulating antibody level, Conjunctival hyperemia, Conjunctivitis |
ORPHA:3392 |
Hermansky-Pudlak Syndrome 2 |
|
Reduced natural killer cell activity, Ocular albinism, Fair hair, Albinism, Generalized hypopigme... |
OMIM:608233 |
Microphthalmia, Syndromic 3 |
|
Coloboma, Optic nerve aplasia, Optic nerve hypoplasia, Cataract, Sclerocornea |
OMIM:206900 |
Cockayne Syndrome |
|
Optic atrophy, Retinal atrophy, Keratoconjunctivitis sicca, Action tremor, Band keratopathy, Mios... |
ORPHA:191 |
Colchicine Poisoning |
|
Alopecia, Hypophosphatemia, Hypokalemia, Abnormal blood ion concentration, Hyponatremia, Hypocalc... |
ORPHA:31824 |
Liddle Syndrome 2 |
|
Decreased circulating renin level, Hypokalemia |
OMIM:618114 |
Oculocerebrorenal Syndrome Of Lowe |
|
Abnormal pupil morphology, Lentiglobus, Buphthalmos, Cataract, Corneal opacity, Chorioretinal dys... |
ORPHA:534 |
Bardet-Biedl Syndrome 6 |
|
Obesity, Pigmentary retinopathy |
OMIM:605231 |
Jacobsen Syndrome |
|
Optic atrophy, Macular hypoplasia, Microcornea, Iris coloboma, Chorioretinal coloboma |
OMIM:147791 |
Neurocardiofaciodigital Syndrome |
|
Cataract, Optic disc pallor, Sclerocornea |
OMIM:619869 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hypokalemia, Hypomagnesemia |
OMIM:618314 |
Sacral Defect With Anterior Meningocele |
|
Meningocele, Myelomeningocele, Hydrocephalus, Myeloschisis, Dermal sinus tract |
OMIM:600145 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Retinopathy, Optic atrophy, Retinal dystrophy, Abnormality of retinal pigmentation, Retinal dyspl... |
ORPHA:2526 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Cataract, Hypertension, Optic atrophy |
OMIM:617913 |
Joubert Syndrome 14 |
|
Meningocele, Hydrocephalus, Encephalocele, Growth delay |
OMIM:614424 |
Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Small for gestational age, Increased body weight |
OMIM:274300 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Retinal pigment epithelial atrophy, Retinal atrophy, Epiretinal membrane, Photoreceptor layer los... |
OMIM:616959 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Pulmonic stenosis, Ectopia pupillae |
OMIM:618223 |
Mitochondrial Complex I Deficiency, Nuclear Type 28 |
|
Optic neuropathy, Choreoathetosis, Optic atrophy, Optic disc pallor |
OMIM:618249 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Abnormal eyebrow morphology, Premature graying of hair, Hypopigmented skin patches, Hypopigmentat... |
ORPHA:163746 |
Pelvis-Shoulder Dysplasia |
|
Mesomelic/rhizomelic limb shortening, Short stature, Spina bifida, Hydrocephalus, Hydranencephaly... |
ORPHA:2839 |
Ethylene Glycol Poisoning |
|
Hypocalcemia, Hyperkalemia |
ORPHA:31826 |
Primary Hyperoxaluria |
|
Retinopathy, Optic atrophy, Arterial occlusion, Intermittent claudication, Choroidal neovasculari... |
ORPHA:416 |
Mucopolysaccharidosis-Plus Syndrome |
|
Synophrys, Long eyelashes, Hirsutism, Bone marrow hypocellularity, Increased circulating IgM leve... |
OMIM:617303 |
Xeroderma Pigmentosum |
|
Telangiectasia, Optic atrophy, Pterygium, Cataract, Conjunctival telangiectasia, Telangiectasia o... |
ORPHA:910 |
Cockayne Syndrome B |
|
Optic atrophy, Abnormal peripheral myelination, Hypoplasia of the iris, Abnormal auditory evoked ... |
OMIM:133540 |
Hemorrhagic Fever-Renal Syndrome |
|
Hyperphosphatemia, Decreased body weight, Increased circulating interleukin 6 concentration, Hype... |
ORPHA:340 |
Subcorneal Pustular Dermatosis |
|
Increased circulating antibody level, Hyperpigmentation of the skin |
ORPHA:48377 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Failure to thrive, Decreased circulating IgA level, Increased circulating IgM level |
OMIM:242860 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Sparse eyebrow, Sparse scalp hair, Generalized hypopigmentation, Fair hair, Sparse axillary hair,... |
OMIM:129900 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Increased circulating IgA level, Increased circulating IgM level, Reduced delayed hypersensitivit... |
OMIM:603909 |
Schnitzler Syndrome |
|
Increased circulating IgM level |
ORPHA:37748 |
Infantile Nephropathic Cystinosis |
|
Hypophosphatemia, Hypokalemia, Corneal crystals, Abnormal blood ion concentration, Failure to thr... |
ORPHA:411629 |
Iniencephaly |
|
Spinal dysraphism, Encephalocele, Myelomeningocele, Rhizomelia, Spina bifida, Anencephaly, Hydroc... |
ORPHA:63259 |
Hypomagnesemia 2, Renal |
|
Hypokalemia, Hypomagnesemia |
OMIM:154020 |
Meckel Syndrome |
|
Optic atrophy, Aplasia/Hypoplasia of the iris, Abnormal chorioretinal morphology, Microcornea, Ca... |
ORPHA:564 |
Adrenocortical Carcinoma |
|
Hypokalemia, Hypertrichosis, Weight loss, Increased body weight |
ORPHA:1501 |
Papilloma Of Choroid Plexus |
|
Papilledema |
OMIM:260500 |
Infection-Related Hemolytic Uremic Syndrome |
|
Increased circulating interleukin 6 concentration, Abnormality of chemokine secretion, Hyperkalem... |
ORPHA:544482 |
Neonatal Marfan Syndrome |
|
Megalocornea, Heart murmur, Ectopia lentis, Mitral regurgitation, Iridodonesis, Tricuspid regurgi... |
ORPHA:284979 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Hypotension, T-wave inversion, ST segment depression, Congestive heart failure, Left axis deviati... |
OMIM:261740 |
Craniolenticulosutural Dysplasia |
|
Posterior Y-sutural cataract, Punctate cataract, Optic atrophy |
OMIM:607812 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Weight loss, Hyperkalemia, Failure to thrive, Frontal balding, Hirsutism, Hypochloremia, Tall sta... |
ORPHA:90794 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Alopecia, Hirsutism, Increased body weight |
OMIM:615830 |
Juvenile Nephropathic Cystinosis |
|
Hypocalcemic tetany, Hypophosphatemia, Hypokalemia, Corneal crystals, Failure to thrive, Abnormal... |
ORPHA:411634 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Meningocele, Short stature |
ORPHA:2031 |
Wilson Disease |
|
Failure to thrive, Kayser-Fleischer ring, Weight loss, Increased body weight |
ORPHA:905 |
Proboscis Lateralis |
|
Microcornea, Optic nerve hypoplasia, Iris coloboma, Cataract, Corneal opacity, Chorioretinal colo... |
ORPHA:141099 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Obesity, Aniridia |
OMIM:194072 |
Monosomy 13Q14 |
|
Retinoblastoma, Iris coloboma, Cataract |
ORPHA:1587 |
Mercury Poisoning |
|
Hypokalemia, Tremor, Dystonia |
ORPHA:330021 |
Cockayne Syndrome A |
|
Optic atrophy, Abnormal peripheral myelination, Retinal atrophy, Abnormal auditory evoked potenti... |
OMIM:216400 |
Chondrodysplasia Punctata, Autosomal Dominant |
|
Cataract |
OMIM:118650 |
Hypokalemic Periodic Paralysis |
|
Episodic hypokalemia, Mildly elevated creatine kinase |
ORPHA:681 |
Leptospirosis |
|
Hypotension, Retinal hemorrhage, Chorioretinitis, Conjunctival hyperemia, Pulmonary hemorrhage, S... |
ORPHA:509 |
Simple Cryoglobulinemia |
|
Monoclonal elevation of circulating IgA, Weight loss, Monoclonal elevation of IgG, Paraproteinemi... |
ORPHA:91139 |
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome |
|
Meningocele |
ORPHA:2003 |
Neurocutaneous Melanocytosis |
|
Meningocele |
ORPHA:2481 |
Von Hippel-Lindau Disease |
|
Adrenal pheochromocytoma, Myocarditis, Macular edema, Pancreatic endocrine tumor, Retinal capilla... |
ORPHA:892 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Anisocoria, Heart murmur |
OMIM:618653 |
Williams Syndrome |
|
Abnormal circulating lipid concentration, Megalocornea, Posterior embryotoxon, Aplasia/Hypoplasia... |
ORPHA:904 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hypokalemia, Hyperchloriduria, Failure to thrive, Hypochloremia, Hyponatremia |
OMIM:613090 |
Liddle Syndrome 1 |
|
Decreased circulating renin level, Hypokalemia |
OMIM:177200 |
Aicardi Syndrome |
|
Optic atrophy, Cataract, Retinal detachment, Optic disc coloboma, Chorioretinal lacunae |
OMIM:304050 |
Mowat-Wilson Syndrome |
|
Aganglionic megacolon, Microcornea, Iris coloboma, Cataract, Chorioretinal coloboma, Ectopia pupi... |
OMIM:235730 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Abdominal obesity, Increased body weight |
OMIM:615954 |
Autoimmune Hepatitis |
|
Increased circulating antibody level, Vitiligo, Increased circulating IgG level, Increased total ... |
ORPHA:2137 |
Insulinoma |
|
Tremor, Increased body weight |
ORPHA:97279 |
Mucopolysaccharidosis Type 2 |
|
Retinopathy, Abnormal foveal morphology, Optic atrophy, Retinal degeneration, Hypertension, Abnor... |
ORPHA:580 |
Renal Tubular Acidosis Iii |
|
Hypokalemia |
OMIM:267200 |
Angiostrongyliasis |
|
Increased circulating specific IgE antibody, Increased circulating IgG level, Increased circulati... |
ORPHA:74 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Coloboma, Facial palsy, Abnormal optic disc morphology, Optic nerve hypoplasia, Aortic regurgitat... |
ORPHA:508498 |
Viss Syndrome |
|
Alopecia, Sparse scalp hair, Increased circulating IgE level, Failure to thrive, Hirsutism, Decre... |
OMIM:619472 |
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Hyperkalemia, Hyponatremia |
OMIM:201810 |
Neu-Laxova Syndrome 2 |
|
Spina bifida, Intrauterine growth retardation |
OMIM:616038 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Increased circulating antibody level, Failure to thrive, Hypertriglyceridemia, Conjunctivitis |
OMIM:617591 |
Trisomy 8P |
|
Astigmatism, Heterochromia iridis, Low posterior hairline |
ORPHA:264450 |
Japanese Encephalitis |
|
Increased circulating antibody level, Choreoathetosis, Tremor, Increased circulating IgM level, H... |
ORPHA:79139 |
Arnold-Chiari Malformation Type Ii |
|
Meningocele, Hydrocephalus, Myelomeningocele, Aqueductal stenosis |
ORPHA:1136 |
Xq21 Microdeletion Syndrome |
|
Optic atrophy, Choroideremia, Abnormal chorioretinal morphology, Hypertension, Chorioretinal dege... |
ORPHA:1435 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Cataract, Keratoconjunctivitis, Band keratopathy |
OMIM:269200 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Spina bifida |
ORPHA:1120 |
Apparent Mineralocorticoid Excess |
|
Decreased circulating renin level, Failure to thrive, Hypokalemia |
ORPHA:320 |
Vacterl With Hydrocephalus |
|
Aqueductal stenosis, Spina bifida, Arrhinencephaly, Hydrocephalus, Intrauterine growth retardation |
ORPHA:3412 |
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome |
|
Increased circulating antibody level |
ORPHA:69126 |
Stankiewicz-Isidor Syndrome |
|
Abnormal optic disc morphology |
OMIM:617516 |
Boutonneuse Fever |
|
Increased circulating IgG level, Increased circulating IgM level |
ORPHA:83313 |
Immunodeficiency 36 With Lymphoproliferation |
|
Decreased circulating IgA level, Increased circulating IgM level, Decreased circulating IgG level |
OMIM:616005 |
Cystinosis, Nephropathic |
|
Reduced blood urea nitrogen, Hypopigmentation of the skin, Weight loss, Retinal pigment epithelia... |
OMIM:219800 |
Amish Lethal Microcephaly |
|
Spina bifida |
ORPHA:99742 |
Fanconi Renotubular Syndrome 1 |
|
Hypokalemia, Hypophosphatemia |
OMIM:134600 |
Calcific Aortic Disease With Immunologic Abnormalities, Familial |
|
Increased circulating antibody level |
OMIM:114065 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Obesity, Hyperkalemia, Hyperlipidemia, Hyponatremia |
ORPHA:293987 |
Poems Syndrome |
|
Leukonychia, Weight loss, Increased circulating antibody level, Hyperpigmentation of the skin, Hy... |
ORPHA:2905 |
Pneumocystosis |
|
Increased circulating antibody level, Weight loss |
ORPHA:723 |
Alzahrani-Kuwahara Syndrome |
|
Astigmatism, Cataract, Optic disc pallor |
OMIM:619268 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Elevated circulating creatinine concentration, Hypokalemia, Elevated circulating alpha-fetoprotei... |
OMIM:613095 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Hypokalemia, Athetosis |
ORPHA:369929 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Decreased circulating renin level, Hypokalemia, Athetosis |
OMIM:615474 |
Familial Hyperaldosteronism Type I |
|
Hypokalemia |
ORPHA:403 |
Primary Pigmented Nodular Adrenocortical Disease |
|
Alopecia, Spotty hyperpigmentation, Hirsutism, Hyperlipidemia, Abdominal obesity, Increased body ... |
ORPHA:189439 |
Frontofacionasal Dysplasia |
|
Iris coloboma, Cataract, Microcornea |
OMIM:229400 |
Corticosteroid-Binding Globulin Deficiency |
|
Hypokalemia |
OMIM:611489 |
Exercise-Induced Malignant Hyperthermia |
|
Hypocalcemia, Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration |
ORPHA:466650 |
Familial Hyperaldosteronism Type Ii |
|
Hypokalemia |
ORPHA:404 |
Acromelic Frontonasal Dysplasia |
|
Meningocele, Encephalocele |
ORPHA:1827 |
Lysinuric Protein Intolerance |
|
Hyperalaninemia, Hyperglycinemia, Decreased circulating antibody level, Increased circulating ant... |
ORPHA:470 |
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia |
|
Alopecia, Hirsutism, Hyperlipidemia, Abdominal obesity, Increased body weight |
ORPHA:189427 |
Hyperaldosteronism, Familial, Type Iii |
|
Decreased circulating renin level, Hypokalemia |
OMIM:613677 |
Lateral Meningocele Syndrome |
|
Meningocele, Short stature, Hydrocephalus, Umbilical hernia |
OMIM:130720 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Ocular albinism |
ORPHA:1352 |
Adult Idiopathic Neutropenia |
|
Increased circulating IgM level |
ORPHA:2688 |
Proteus Syndrome |
|
Irregular hyperpigmentation, Abnormality of skin pigmentation, Melanocytic nevus, Central heteroc... |
ORPHA:744 |
Williams-Beuren Syndrome |
|
Medial flaring of the eyebrow, Premature graying of hair, Blue irides, Hypercalcemia, Obesity, Fa... |
OMIM:194050 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Conjunctivitis, Increased circulating interleukin 6 concentration, Premature graying of hair, Inc... |
OMIM:256040 |
Osteootohepatoenteric Syndrome |
|
Failure to thrive, Hypokalemia, Increased serum bile acid concentration, Weight loss |
OMIM:619377 |
Sotos Syndrome |
|
Sparse eyebrow, High anterior hairline, Overgrowth, Tall stature, Increased body weight |
OMIM:117550 |
Bartter Syndrome, Type 3 |
|
Hyperchloriduria, Hypokalemia, Increased circulating renin level, Abnormal choroid morphology |
OMIM:607364 |
Trisomy 18 |
|
Short stature, Spina bifida, Anencephaly, Holoprosencephaly, Growth delay, Intrauterine growth re... |
ORPHA:3380 |
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Increased circulating renin level, Hypokalemia, Hypomagnesemia, Intention tremor |
OMIM:612780 |
Primary Biliary Cholangitis |
|
Abnormal circulating lipid concentration, Increased circulating IgA level, Increased circulating ... |
ORPHA:186 |
Cystic Echinococcosis |
|
Increased circulating antibody level, Hyperbilirubinemia, Weight loss |
ORPHA:400 |
Romano-Ward Syndrome |
|
Hypokalemia |
ORPHA:101016 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Conjunctivitis, Thick hair, Long eyelashes, Abnormality of retinal pigmentation, Bone marrow hypo... |
ORPHA:505248 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Alopecia, Decreased circulating renin level, Hypokalemia, Hirsutism, Hyperpigmentation of the skin |
ORPHA:90795 |
Down Syndrome |
|
Brushfield spots |
OMIM:190685 |
Cholera |
|
Hypokalemia, Hypocalcemia, Abnormal blood ion concentration, Hyponatremia |
ORPHA:173 |
Lateral Meningocele Syndrome |
|
Meningocele, Umbilical hernia |
ORPHA:2789 |
7Q11.23 Microduplication Syndrome |
|
Aortic valve stenosis, Astigmatism, Abnormal optic disc morphology |
ORPHA:96121 |
Pearson Syndrome |
|
Hyperalaninemia, Cafe-au-lait spot, Small for gestational age, Hypophosphatemia, Hypokalemia, Cor... |
ORPHA:699 |
Familial Hyperaldosteronism Type Iii |
|
Hypokalemia |
ORPHA:251274 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Abnormal pupil morphology, Optic atrophy, Aganglionic megacolon, Hyphema, Axenfeld anomaly, Micro... |
ORPHA:261552 |
Ectopic Aldosterone-Producing Tumor |
|
Decreased circulating renin level, Hypokalemia |
ORPHA:231632 |
Lumbar Syndrome |
|
Spina bifida, Myelomeningocele |
ORPHA:83628 |
Al Amyloidosis |
|
Increased circulating antibody level, Hypoalbuminemia, Weight loss, Increased circulating NT-proB... |
ORPHA:85443 |
Encephalitis Lethargica |
|
Increased circulating antibody level, Tremor |
ORPHA:83600 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Hypopigmentation of the skin, Failure to thrive, Hypopigmentation of hair, Abdominal obesity, Cho... |
ORPHA:398069 |
Juvenile Polyposis Syndrome |
|
Failure to thrive, Hypokalemia, Hypoalbuminemia |
OMIM:174900 |
Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Increased body weight |
ORPHA:64745 |
Pyoderma Gangrenosum |
|
Increased circulating antibody level |
ORPHA:48104 |
Wolfram Syndrome 2 |
|
Optic neuropathy, Optic atrophy |
OMIM:604928 |
Rabson-Mendenhall Syndrome |
|
Increased C-peptide level, Premature graying of hair, Hypokalemia, Hirsutism, Hypertrichosis, Low... |
ORPHA:769 |
X-Linked Lymphoproliferative Disease |
|
Decreased circulating total IgM, Decreased circulating antibody level, Dysgammaglobulinemia, Incr... |
ORPHA:2442 |
Mosaic Trisomy 9 |
|
Spina bifida, Intrauterine growth retardation |
ORPHA:99776 |
Bartter Syndrome Type 4 |
|
Small for gestational age, Hypokalemia, Increased circulating renin level, Failure to thrive, Hyp... |
ORPHA:89938 |
Trisomy 20P |
|
Spina bifida, Umbilical hernia |
ORPHA:261318 |
Lassa Fever |
|
Conjunctivitis, Increased circulating IgM level |
ORPHA:99824 |
Tempi Syndrome |
|
Increased circulating IgG level |
ORPHA:284227 |
Primary Unilateral Adrenal Hyperplasia |
|
Decreased circulating renin level, Hypokalemia |
ORPHA:231580 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Elevated circulating creatine kinase concentration, Failure to thrive, Hypercholesterolemia, Hype... |
ORPHA:264580 |
Lathosterolosis |
|
Meningocele, Intrauterine growth retardation |
ORPHA:46059 |
Bartter Syndrome, Type 1, Antenatal |
|
Increased serum prostaglandin E2, Small for gestational age, Hypokalemia, Increased circulating r... |
OMIM:601678 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Meningocele, Rhizomelic arm shortening, Rhizomelic leg shortening, Short stature, Occipital encep... |
ORPHA:397715 |
Selective Igm Deficiency |
|
Decreased circulating total IgM, Paraproteinemia, Decreased circulating IgA level, Keratitis, Dec... |
ORPHA:331235 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Decreased circulating renin level, Hypokalemia, Failure to thrive, Absent pubic hair, Absent axil... |
ORPHA:90793 |
Iga Pemphigus |
|
Monoclonal elevation of circulating IgA, Increased circulating IgA level |
ORPHA:555905 |
Gitelman Syndrome |
|
Failure to thrive, Hypokalemia, Hypomagnesemia, Increased circulating renin level |
OMIM:263800 |
Aapoaiv Amyloidosis |
|
Elevated circulating creatinine concentration, Paraproteinemia, Hyperlipidemia |
ORPHA:439232 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Hypercholesterolemia, I... |
ORPHA:79240 |
Scleromyxedema |
|
Paraproteinemia, Elevated circulating creatine kinase concentration |
ORPHA:167635 |
Neu-Laxova Syndrome |
|
Spina bifida, Intrauterine growth retardation |
ORPHA:2671 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Decreased circulating renin level, Hypokalemia |
ORPHA:231625 |
Wolf-Hirschhorn Syndrome |
|
Iris coloboma, Rieger anomaly, Ectopia pupillae |
OMIM:194190 |
Phocomelia, Schinzel Type |
|
Meningocele, Disproportionate short stature, Intrauterine growth retardation |
ORPHA:2879 |
Pagod Syndrome |
|
Meningocele, Short stature, Encephalocele, Spina bifida |
ORPHA:991 |
Postinfectious Vasculitis |
|
Weight loss, Increased circulating antibody level, Elevated haptoglobin level, Cryoglobulinemia, ... |
ORPHA:48435 |
Primary Fanconi Renotubular Syndrome |
|
Weight loss, Hypophosphatemia, Decreased plasma carnitine, Hypokalemia, Hypophosphatemic rickets,... |
ORPHA:3337 |
Limb Body Wall Complex |
|
Myelomeningocele, Encephalocele, Spina bifida, Short umbilical cord, Anencephaly, Hydrocephalus, ... |
ORPHA:2369 |
Bartter Syndrome, Type 2, Antenatal |
|
Increased serum prostaglandin E2, Small for gestational age, Hypokalemia, Increased circulating r... |
OMIM:241200 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hypokalemia, Hyperchloriduria, Failure to thrive, Hypochloremia, Hyponatremia |
OMIM:602522 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Increased circulating IgA level |
ORPHA:343 |
Tick-Borne Encephalitis |
|
Abnormality of serum cytokine level, Tremor, Elevated circulating C-reactive protein concentratio... |
ORPHA:297 |
Cloacal Exstrophy |
|
Spina bifida, Myelomeningocele |
ORPHA:93929 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Unconjugated hyperbilirubinemia, Hypokalemia, Dysfunctional alternative complement pathway, Hypon... |
ORPHA:90038 |
Phakomatosis Pigmentokeratotica |
|
Spina bifida |
ORPHA:2874 |
Sponastrime Dysplasia |
|
Microcoria, Cataract, Congenital aphakia |
ORPHA:93357 |
Helix Syndrome |
|
Hypokalemia, Hypermagnesemia |
OMIM:617671 |
Curry-Jones Syndrome |
|
Occipital meningocele, Lipomyelomeningocele |
OMIM:601707 |
Hepatocellular Carcinoma |
|
Weight loss, Hypokalemia, Hyperbilirubinemia, Hypercalcemia, Hyponatremia, Hypoalbuminemia |
ORPHA:88673 |
Witteveen-Kolk Syndrome |
|
Anisocoria, Iris coloboma, Intracranial hemorrhage, Cataract |
OMIM:613406 |
1P36 Deletion Syndrome |
|
Horizontal eyebrow, Abnormal eyebrow morphology, Ocular albinism, Failure to thrive, Cataract, Ob... |
ORPHA:1606 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Small for gestational age, Decreased circulating renin level, Hyperkalemia, Hyponatremia |
OMIM:201750 |
Fibular Hemimelia |
|
Spina bifida |
ORPHA:93323 |
Focal Dermal Hypoplasia |
|
Spina bifida, Umbilical hernia |
ORPHA:2092 |
Aicardi-Goutieres Syndrome 7 |
|
Increased circulating antibody level, Increased circulating ferritin concentration, Dystonia, Wei... |
OMIM:615846 |
Marburg Hemorrhagic Fever |
|
Increased circulating antibody level, Hypokalemia, Uveitis, Elevated circulating creatine kinase ... |
ORPHA:99826 |
Sarcoidosis, Susceptibility To, 1 |
|
Chorioretinitis, Weight loss, Iridocyclitis, Increased circulating antibody level, Abnormality of... |
OMIM:181000 |
Rift Valley Fever |
|
Uveitis, Increased circulating IgG level, Increased circulating IgM level |
ORPHA:319251 |
Hallermann-Streiff Syndrome |
|
Spina bifida, Proportionate short stature |
OMIM:234100 |
Orofaciodigital Syndrome Vi |
|
Arrhinencephaly, Occipital meningocele, Short stature |
OMIM:277170 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Hypokalemia |
OMIM:170390 |
Brucellosis |
|
Chorioretinitis, Weight loss, Small for gestational age, Failure to thrive, Elevated circulating ... |
ORPHA:1304 |
Q Fever |
|
Increased circulating antibody level, Cryoglobulinemia, Weight loss |
ORPHA:781 |
Ebola Hemorrhagic Fever |
|
Increased circulating antibody level |
ORPHA:319218 |
Proximal Renal Tubular Acidosis |
|
Hypokalemia, Failure to thrive, Cataract, Band keratopathy, Bicarbonaturia |
ORPHA:47159 |
Gaucher Disease Type 1 |
|
Increased circulating antibody level |
ORPHA:77259 |
Neurofibromatosis, Type I |
|
Spina bifida, Hydrocephalus, Aqueductal stenosis, Short stature |
OMIM:162200 |
Vascular Ehlers-Danlos Syndrome |
|
Abnormal pupil morphology, Transient ischemic attack, Hypertension, Internal hemorrhage, Renovasc... |
ORPHA:286 |
Jacobsen Syndrome |
|
Spina bifida, Growth delay, Intrauterine growth retardation, Short stature |
ORPHA:2308 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Failure to thrive, Hypokalemia, Hyponatremia |
OMIM:618426 |
Immunodeficiency 87 And Autoimmunity |
|
Small for gestational age, Hypokalemia, Abnormal lymphocyte proliferation, Elevated circulating C... |
OMIM:619573 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Hyperbilirubinemia, Increased circulating IgG level, Increased circulating IgM level |
ORPHA:562639 |
Basal Cell Nevus Syndrome 1 |
|
Spina bifida, Hydrocephalus |
OMIM:109400 |
Cysticercosis |
|
Increased circulating antibody level, Chorioretinitis, Iridocyclitis |
ORPHA:1560 |
Tsh-Secreting Pituitary Adenoma |
|
Hypokalemia, Abnormal hair quantity, Tremor, Weight loss |
ORPHA:91347 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Increased circulating IgG4 level, Weight loss, Keratoconjunctivitis sicca, Increased circulating ... |
ORPHA:79078 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Decreased circulating renin level, Hyperpigmentation of the skin, Hypokalemia |
OMIM:202010 |
Neu-Laxova Syndrome 1 |
|
Spina bifida, Short umbilical cord, Hydranencephaly, Stillbirth, Small placenta, Neonatal death, ... |
OMIM:256520 |
Alveolar Echinococcosis |
|
Increased circulating antibody level, Weight loss |
ORPHA:284 |
Generalized Glucocorticoid Resistance Syndrome |
|
Hypokalemia, Frontal balding, Hirsutism |
ORPHA:786 |
Primary Sjögren Syndrome |
|
Decreased circulating complement C3 concentration, Decreased circulating antibody level, Increase... |
ORPHA:289390 |
Leprechaunism |
|
Decreased body weight, Hypokalemia, Increased circulating renin level, Failure to thrive, Facial ... |
ORPHA:508 |
Fanconi Anemia |
|
Short stature, Spina bifida, Hydrocephalus, Growth delay, Intrauterine growth retardation, Umbili... |
ORPHA:84 |
Gaucher Disease |
|
Abnormality of skin pigmentation, Increased circulating antibody level, Tremor, Elevated circulat... |
ORPHA:355 |
Vipoma |
|
Hypokalemia, Hypercalcemia, Weight loss |
ORPHA:97282 |
Holoprosencephaly 7 |
|
Hydrocephalus, Semilobar holoprosencephaly, Lobar holoprosencephaly, Alobar holoprosencephaly, Ho... |
OMIM:610828 |
Gitelman Syndrome |
|
Hypokalemia, Hypermagnesemia, Failure to thrive, Hypocalcemia, Hypomagnesemia |
ORPHA:358 |
Split Cord Malformation |
|
Meningocele, Myelomeningocele, Hydrocephalus, Cervical spina bifida, Lipomyelomeningocele |
ORPHA:573278 |
Hyper-Igd Syndrome |
|
Increased circulating IgD level, Increased circulating IgA level |
OMIM:260920 |
Cushing Disease |
|
Sparse scalp hair, Hirsutism, Truncal obesity, Hyperpigmentation of the skin, Abdominal obesity, ... |
ORPHA:96253 |
Campomelic Dysplasia |
|
Spinal dysraphism, Spina bifida, Hydrocephalus, Disproportionate short-limb short stature, Neonat... |
OMIM:114290 |
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
|
Meningocele |
ORPHA:1010 |
Distal Renal Tubular Acidosis |
|
Failure to thrive, Hypokalemia |
ORPHA:18 |
Thrombocytopenia-Absent Radius Syndrome |
|
Spina bifida, Short stature |
OMIM:274000 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Spina bifida, Hydrocephalus, Postnatal growth retardation |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Spina bifida, Hydrocephalus, Postnatal growth retardation |
ORPHA:363958 |
Primary Sclerosing Cholangitis |
|
Uveitis, Polyclonal elevation of IgM, Weight loss, Hypoalbuminemia |
ORPHA:171 |
Nelson Syndrome |
|
Hypokalemia, Generalized hyperpigmentation |
ORPHA:199244 |
Vater/Vacterl Association |
|
Spina bifida, Patent urachus, Occipital encephalocele, Intrauterine growth retardation, Postnatal... |
OMIM:192350 |
Rubinstein-Taybi Syndrome 1 |
|
Short stature, Spina bifida, Spina bifida occulta, Growth delay, Postnatal growth retardation |
OMIM:180849 |
Arima Syndrome |
|
Occipital meningocele, Growth delay |
OMIM:243910 |
Hellp Syndrome |
|
Increased body weight |
ORPHA:244242 |
Coccidioidomycosis |
|
Increased circulating IgG level, Increased circulating IgM level |
ORPHA:228123 |
Gaucher Disease Type 3 |
|
Increased circulating antibody level |
ORPHA:77261 |
Otopalatodigital Syndrome, Type Ii |
|
Short stature, Spina bifida, Hydrocephalus, Stillbirth, Umbilical hernia, Postnatal growth retard... |
OMIM:304120 |
Marfan Syndrome |
|
Meningocele |
ORPHA:558 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Spina bifida |
OMIM:619480 |
Crimean-Congo Hemorrhagic Fever |
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Conjunctivitis, Increased circulating IgG level, Increased circulating IgM level, Elevated circul... |
ORPHA:99827 |
Yellow Fever |
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Increased circulating interleukin 6 concentration, Hyperbilirubinemia, Elevated circulating creat... |
ORPHA:99829 |
Carney Complex |
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Ductal carcinoma in situ, Spotty hyperpigmentation, Multiple lentigines, Hirsutism, Multiple cafe... |
ORPHA:1359 |
Cushing Syndrome Due To Ectopic Acth Secretion |
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Sparse scalp hair, Weight loss, Hirsutism, Truncal obesity, Hyperpigmentation of the skin, Abdomi... |
ORPHA:99889 |
Exstrophy-Epispadias Complex |
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Spina bifida, Hydrocephalus |
ORPHA:322 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
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Disproportionate short stature, Occipital meningocele |
OMIM:276820 |