Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
|
Abnormality of skin pigmentation, Rod-cone dystrophy, Cataract |
OMIM:300719 |
Uncombable Hair Syndrome 2 |
|
Uncombable hair, Juvenile cataract, Pili canaliculi |
OMIM:617251 |
Foveal Hypoplasia-Presenile Cataract Syndrome |
|
Generalized hyperpigmentation, Cataract, Optic atrophy |
ORPHA:2253 |
Woolly Hair |
|
Hypopigmentation of hair, Brittle hair, Cataract, Slow-growing hair, Abnormal retinal morphology,... |
ORPHA:170 |
Tietz Syndrome |
|
Hypopigmentation of hair, White eyebrow, Abnormality of skin pigmentation, Abnormal anterior cham... |
ORPHA:42665 |
Hereditary Hyperferritinemia-Cataract Syndrome |
|
Cataract |
ORPHA:163 |
Cataract 29 |
|
Cataract |
OMIM:115800 |
Cataract 35 |
|
Cataract |
OMIM:609376 |
Cataract 36 |
|
Cataract |
OMIM:613887 |
Dilution, Pigmentary |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Hypopigmentation of the fundus, Iris hypo... |
OMIM:126070 |
Hypertrophic Neuropathy And Cataract |
|
Cataract |
OMIM:239900 |
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy |
|
Sudden cardiac death, Juvenile cataract, Arrhythmia |
OMIM:212500 |
Albinism, Oculocutaneous, Type Iv |
|
Hypopigmentation of hair, Albinism, Blue irides, Macular hypoplasia, Hypopigmentation of the fundus |
OMIM:606574 |
Cataract And Congenital Ichthyosis |
|
Cataract |
OMIM:212400 |
X-Linked Retinoschisis |
|
Retinoschisis, Cataract |
ORPHA:792 |
Trichomegaly |
|
Cataract, Long eyelashes |
OMIM:190330 |
Retinal Dysplasia, Primary |
|
Retinal dysplasia, Falciform retinal fold |
OMIM:312550 |
Griscelli Syndrome, Type 3 |
|
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes |
OMIM:609227 |
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness |
|
Cataract, Chorioretinal coloboma |
OMIM:274205 |
Nathalie Syndrome |
|
Arrhythmia, Cataract |
ORPHA:2663 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Hypertrophic cardiomyopathy, Cataract |
ORPHA:79281 |
Foveal Hypoplasia 1 |
|
Hypoplasia of the fovea, Presenile cataracts |
OMIM:136520 |
Griscelli Syndrome, Type 1 |
|
Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar... |
OMIM:214450 |
Intellectual Developmental Disorder With Poor Growth And With Or Without Seizures Or Ataxia |
|
Increased LDL cholesterol concentration, Fair hair, Developmental cataract |
OMIM:618808 |
Retinitis Pigmentosa 40 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Cataract, Attenuation of retinal blo... |
OMIM:613801 |
Iris Pigment Layer, Cleavage Of |
|
Cataract, Peripheral retinal detachment |
OMIM:147610 |
Wagner Vitreoretinopathy |
|
Cataract, Retinal pigment epithelial atrophy, Optically empty vitreous, Optic atrophy, Chorioreti... |
OMIM:143200 |
Hydrocephaly-Cerebellar Agenesis Syndrome |
|
Cataract |
ORPHA:1397 |
Yemenite Deaf-Blind Hypopigmentation Syndrome |
|
Patchy hypo- and hyperpigmentation, Microcornea, Numerous pigmented freckles, White forelock, Cho... |
OMIM:601706 |
Corneal Dystrophy, Groenouw Type I |
|
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy |
OMIM:121900 |
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hyponatremia, Elevated left ventricular end-diastolic diameter, Dilated cardiomyopathy, Hypokalem... |
OMIM:620152 |
Galactosemia Iv |
|
Cataract, Hypergalactosemia |
OMIM:618881 |
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome |
|
Cataract |
ORPHA:73245 |
Oculocutaneous Albinism, Type Viii |
|
Hypoplasia of the fovea, Hypopigmentation of hair, Iris transillumination defect, Chorioretinal h... |
OMIM:619165 |
Cataract 42 |
|
Cataract, Developmental cataract |
OMIM:115900 |
Birdshot Chorioretinopathy |
|
Retinal detachment, Optic disc pallor, Cataract, Abnormal chorioretinal morphology, Choroidal neo... |
ORPHA:179 |
Coats Disease |
|
Retinal detachment, Cataract, Abnormal retinal vascular morphology, Aplasia/Hypoplasia of the iri... |
ORPHA:190 |
Retinitis Pigmentosa 84 |
|
Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular coloboma, Rod-cone dy... |
OMIM:618220 |
Retinitis Pigmentosa 9 |
|
Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular edema, Rod-cone dystr... |
OMIM:180104 |
Bardet-Biedl Syndrome 18 |
|
Rod-cone dystrophy, Cataract, Retinal dystrophy |
OMIM:615995 |
Cataract 50 With Or Without Glaucoma |
|
Retinal detachment, Cataract, Persistent pupillary membrane |
OMIM:620253 |
Optic Atrophy 3, Autosomal Dominant |
|
Optic disc pallor, Cataract, Optic atrophy |
OMIM:165300 |
Aldh18A1-Related De Barsy Syndrome |
|
Cataract |
ORPHA:35664 |
Griscelli Syndrome Type 3 |
|
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation |
ORPHA:79478 |
Cone-Rod Dystrophy 16 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Ma... |
OMIM:614500 |
Cataract 12, Multiple Types |
|
Progressive cataract, Developmental cataract |
OMIM:611597 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Retinal detachment, Cataract, Vitreous floaters, Lattice retinal degeneration, Lens subluxation, ... |
OMIM:614292 |
Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Hyponatremia, Retinal detachment, Cataract, Optic nerve hypoplasia, Highly arched eyebrow, Retina... |
OMIM:620157 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Alopecia, Cataract, Corneal opacity, Hypopigmentation of hair, Aplasia/Hypoplasia of the iris, Pe... |
ORPHA:1067 |
Waardenburg Syndrome, Type 2B |
|
Premature graying of hair, White forelock, Heterochromia iridis |
OMIM:600193 |
Vitreoretinal Degeneration, Snowflake Type |
|
Retinal detachment, Cataract, Snowflake vitreoretinal degeneration, Optically empty vitreous, Ret... |
OMIM:193230 |
Megalocornea |
|
Iridodonesis, Retinal detachment, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris... |
OMIM:309300 |
Albinism, Oculocutaneous, Type Iii |
|
Red hair, Partial albinism, Albinism |
OMIM:203290 |
Galactosemia Ii |
|
Cataract, Hypergalactosemia |
OMIM:230200 |
Albinism, Oculocutaneous, Type Ib |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Hypopigmentation of the fundus, Albinism |
OMIM:606952 |
Hyperchlorhidrosis, Isolated |
|
Hyponatremia, Hyperkalemia |
OMIM:143860 |
Waardenburg Syndrome, Type 2F |
|
Hypopigmentation of the skin, Hypermelanotic macule, White hair, Blue irides, Premature graying o... |
OMIM:619947 |
Stickler Syndrome Type 2 |
|
Retinal detachment, Cataract, Corneal opacity, Abnormal vitreous humor morphology, Retinopathy |
ORPHA:90654 |
Retinitis Pigmentosa 4 |
|
Bone spicule pigmentation of the retina, Cataract, Retinal atrophy, Pigmentary retinopathy, Rod-c... |
OMIM:613731 |
Hypoalphalipoproteinemia, Primary, 2 |
|
Decreased HDL cholesterol concentration, Corneal arcus, Cataract |
OMIM:618463 |
Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Hyponatremia, Arrhythmia |
OMIM:616949 |
Cardiomyopathy, Dilated, 1Ii |
|
Increased left ventricular end-diastolic volume, Cataract, Elevated circulating creatine kinase c... |
OMIM:615184 |
Albinism, Oculocutaneous, Type Ii |
|
Hypoplasia of the fovea, Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue ... |
OMIM:203200 |
Retinitis Pigmentosa 13 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc drusen, Perifoveal ring o... |
OMIM:600059 |
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome |
|
Hyponatremia |
ORPHA:3225 |
Monilethrix |
|
Abnormal eyebrow morphology, Brittle hair, Cataract, Slow-growing hair, Abnormal eyelash morpholo... |
ORPHA:573 |
Cataract-Microcornea Syndrome |
|
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma |
ORPHA:1377 |
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level, Hypotension |
OMIM:620125 |
Vogt-Koyanagi-Harada Disease |
|
Abnormal eyebrow morphology, Sparse scalp hair, Cataract, Retinal detachment, Poliosis, Abnormal ... |
ORPHA:3437 |
Cataract 21, Multiple Types |
|
Retinal detachment, Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent catarac... |
OMIM:610202 |
Microphthalmia, Isolated 5 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Retinal pigment epithelial ... |
OMIM:611040 |
Anterior Segment Dysgenesis 8 |
|
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the... |
OMIM:617319 |
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Cataract, Developmental cataract |
OMIM:613076 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Abnormality of retinal pigmentation, Retinal detachment, Cataract, Retinal dystrophy, Chorioretin... |
OMIM:251270 |
Hypoadrenocorticism, Familial |
|
Hyponatremia, Abnormality of skin pigmentation, Hyperkalemia |
OMIM:240200 |
Nathalie Syndrome |
|
Abnormal EKG, Cataract |
OMIM:255990 |
Genetic Hyperferritinemia Without Iron Overload |
|
Cataract, Increased circulating ferritin concentration, Abnormal serum iron concentration, Elevat... |
ORPHA:254704 |
Hidrotic Ectodermal Dysplasia |
|
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... |
ORPHA:189 |
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
|
Bone spicule pigmentation of the retina, Cataract, Retinal dystrophy, Retinal pigment epithelial ... |
OMIM:616108 |
Myopia 28, Autosomal Recessive |
|
Retinal detachment, Cataract |
OMIM:619781 |
Microphthalmia, Isolated, With Cataract 1 |
|
Cataract |
OMIM:156850 |
Myopia 17, Autosomal Dominant |
|
Retinal hole, Presenile cataracts |
OMIM:608367 |
Retinoschisis 1, X-Linked, Juvenile |
|
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Macular atrophy, Mizuo p... |
OMIM:312700 |
Leber Congenital Amaurosis 2 |
|
Keratoconus, Optic disc pallor, Cataract, Fundus atrophy, Absent foveal reflex, Pigmentary retino... |
OMIM:204100 |
Leber Congenital Amaurosis 8 |
|
Keratoconus, Cataract, Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fund... |
OMIM:613835 |
Spastic Paraparesis And Deafness |
|
Cataract |
OMIM:312910 |
Corticosterone Methyloxidase Type I Deficiency |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level, Hypotension |
OMIM:203400 |
Ectopia Lentis Et Pupillae |
|
Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe... |
OMIM:225200 |
Exfoliation Syndrome |
|
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... |
OMIM:177650 |
Waardenburg Syndrome, Type 4B |
|
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... |
OMIM:613265 |
Oculocutaneous Albinism Type 3 |
|
White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Optic nerve mis... |
ORPHA:79433 |
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1 |
|
Microcornea, Rod-cone dystrophy, Cataract |
OMIM:619082 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyponatremia, Orthostatic hypotension, Hyperkalemia, Increased circulating renin level |
OMIM:610600 |
Exudative Vitreoretinopathy 6 |
|
Retinal detachment, Tractional retinal detachment, Cataract, Patchy atrophy of the retinal pigmen... |
OMIM:616468 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Cataract, Hyperbilirubinemia |
OMIM:618660 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Reduced blood urea nitrogen, Elevated systolic blood pressure, Decreased serum crea... |
OMIM:300539 |
Neuroectodermal Melanolysosomal Disease |
|
Hypopigmentation of hair, Generalized hyperpigmentation, Optic atrophy, Premature graying of hair... |
ORPHA:33445 |
Colchicine Poisoning |
|
Hyponatremia, Alopecia, Congestive heart failure, Myocarditis, Hypovolemia, Abnormal blood ion co... |
ORPHA:31824 |
Griscelli Syndrome Type 1 |
|
Partial albinism, Hyperlipidemia, White hair, Premature graying of hair, Retinopathy, Iris hypopi... |
ORPHA:79476 |
Waardenburg Syndrome, Type 2A |
|
White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Premature graying of hair,... |
OMIM:193510 |
Spinocerebellar Ataxia, Autosomal Recessive 24 |
|
Cataract |
OMIM:617133 |
Familial Drusen |
|
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... |
ORPHA:75376 |
Familial Exudative Vitreoretinopathy |
|
Macular exudate, Macular telangiectasia, Cataract, Peripheral retinal avascularization, Rhegmatog... |
ORPHA:891 |
Oculocutaneous Albinism Type 4 |
|
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... |
ORPHA:79435 |
Uncombable Hair Syndrome |
|
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair |
ORPHA:1410 |
Maternally-Inherited Diabetes And Deafness |
|
Cataract, Abnormal chorioretinal morphology, Congestive heart failure, Hypertension, Arrhythmia, ... |
ORPHA:225 |
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:620126 |
Gyrate Atrophy Of Choroid And Retina |
|
Cataract, Chorioretinal degeneration, Abnormal hair morphology, Chorioretinal hyperpigmentation, ... |
ORPHA:414 |
Cataract 9, Multiple Types |
|
Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma |
OMIM:604219 |
Chorea, Remitting, With Nystagmus And Cataract |
|
Cataract |
OMIM:601372 |
Rabin-Pappas Syndrome |
|
Hyponatremia, Retinal detachment, Cataract, Optic nerve hypoplasia, Highly arched eyebrow, Retina... |
OMIM:620155 |
Late-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Orthostatic hypotension, Hyperkalemia, Increased circulating renin level, Hypotension |
ORPHA:556037 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Cataract |
OMIM:619813 |
Morning Glory Disc Anomaly |
|
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Optic disc coloboma |
ORPHA:35737 |
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Hypotension |
OMIM:264350 |
Snakebite Envenomation |
|
Hyponatremia, Tachycardia, Epistaxis, Myocardial infarction, Intracranial hemorrhage, Cerebral is... |
ORPHA:449285 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level, Hypotension |
OMIM:177735 |
Exudative Vitreoretinopathy 4 |
|
Peripheral retinal avascularization, Posterior vitreous detachment, Vitreous hemorrhage, Exudativ... |
OMIM:601813 |
Aniridia 2 |
|
Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma |
OMIM:617141 |
Woolly Hair Nevus |
|
Curly hair, Patchy hypopigmentation of hair, Congenital posterior occipital alopecia, Fine hair, ... |
ORPHA:79414 |
Alg8-Cdg |
|
Hyponatremia, Retinopathy, Cataract, Optic atrophy |
ORPHA:79325 |
Retinal Dystrophy And Obesity |
|
Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Astigmatism, Retinal d... |
OMIM:616188 |
Early-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Orthostatic hypotension, Hyperkalemia, Increased circulating renin level, Hypotension |
ORPHA:556030 |
Ceroid Lipofuscinosis, Neuronal, 3 |
|
Cataract, Optic atrophy, Concentric hypertrophic cardiomyopathy, Macular degeneration, Rod-cone d... |
OMIM:204200 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Cataract, Iris coloboma |
OMIM:610092 |
Exudative Vitreoretinopathy 1 |
|
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Vitreous hemorrhage, ... |
OMIM:133780 |
Aniridia-Intellectual Disability Syndrome |
|
Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis |
ORPHA:1068 |
Hereditary Coproporphyria |
|
Hyponatremia, Tachycardia, Abnormal circulating porphyrin concentration, Extension of hair growth... |
ORPHA:79273 |
Hyperkalemic Periodic Paralysis |
|
Hyponatremia, Elevated circulating creatine kinase concentration, Congestive heart failure, Hyper... |
ORPHA:682 |
Infant Botulism |
|
Hyponatremia, Cardiac arrest, Hypertension, Keratoconjunctivitis sicca, Hypotension, Mydriasis |
ORPHA:178478 |
Familial Dysautonomia |
|
Hyponatremia, Orthostatic hypotension, Tachycardia, Corneal opacity, Abnormal pupil morphology, C... |
ORPHA:1764 |
Leber Congenital Amaurosis 1 |
|
Keratoconus, Cataract, Fundus atrophy, Optic disc drusen, Pigmentary retinopathy, Hyperthreoninem... |
OMIM:204000 |
Retinitis Pigmentosa 86 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... |
OMIM:618613 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Chorioretinal coloboma, Posterior e... |
ORPHA:1473 |
Cataract 11, Multiple Types |
|
Cataract, Developmental cataract |
OMIM:610623 |
Retinitis Pigmentosa 2 |
|
Cataract, Bull's eye maculopathy, Chorioretinal degeneration, Fundus atrophy, Pigmentary retinopa... |
OMIM:312600 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Abnormal retinal morphology, Albinism |
ORPHA:2786 |
Waardenburg Syndrome Type 2 |
|
Hypopigmentation of hair, Hypopigmented skin patches, Premature graying of hair, White forelock, ... |
ORPHA:895 |
Oculocutaneous Albinism Type 1 |
|
Hypoplasia of the fovea, White eyelashes, Iris hypopigmentation, White eyebrow, Blue irides, Depi... |
ORPHA:352731 |
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism |
|
Cataract |
OMIM:254000 |
Congenital Isolated Acth Deficiency |
|
Hyponatremia, Hyperkalemia, Hypotension |
ORPHA:199296 |
Leber Congenital Amaurosis 6 |
|
Keratoconus, Cataract, Attenuation of retinal blood vessels |
OMIM:613826 |
Morm Syndrome |
|
Cataract, Retinal dystrophy, Retinal atrophy |
ORPHA:75858 |
Leukoencephalopathy With Vanishing White Matter 2 |
|
Cataract, Optic atrophy |
OMIM:620312 |
Clouston Syndrome |
|
Alopecia, Brittle hair, Cataract, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Sparse e... |
OMIM:129500 |
Griscelli Syndrome, Type 2 |
|
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... |
OMIM:607624 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Peripheral vitreous ... |
OMIM:305390 |
Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Hyponatremia, Hypotension |
ORPHA:91354 |
Autosomal Dominant Keratitis |
|
Hypoplasia of the fovea, Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hy... |
ORPHA:2334 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Cataract, Iris coloboma, Chorioretinal coloboma |
OMIM:120433 |
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome |
|
Cataract, Abnormal fingernail morphology |
ORPHA:2278 |
Piebald Trait-Neurologic Defects Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Hypopigmented... |
ORPHA:2885 |
Central Diabetes Insipidus |
|
Hyponatremia |
ORPHA:178029 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Hyponatremia, Hyperkalemia, Hypovolemic shock, Increased circulating renin level, Arrhythmia |
ORPHA:171876 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Hypopigmentation of hair, Partial albinism |
ORPHA:90023 |
Stickler Syndrome, Type V |
|
Retinal detachment, Cataract, Vitreoretinopathy |
OMIM:614284 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation, Microphakia |
ORPHA:171844 |
Retinitis Pigmentosa 77 |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Posterior subcapsular cataract, Rod-con... |
OMIM:617304 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Retinal detachment, Cataract, Retinal dystrophy, Macular atrophy, Corneal scarring, Buphthalmos, ... |
OMIM:212550 |
Isolated Aniridia |
|
Aniridia, Cataract, Aplasia/Hypoplasia of the macula, Peters anomaly |
ORPHA:250923 |
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts |
|
Cataract, Retinopathy |
OMIM:183800 |
Oculocutaneous Albinism Type 2 |
|
Hypoplasia of the fovea, Hypopigmentation of the skin, Hypopigmentation of hair, Abnormality of r... |
ORPHA:79432 |
Senior-Loken Syndrome |
|
Abnormality of retinal pigmentation, Cataract, Hypertension, Retinal dystrophy |
ORPHA:3156 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Hyponatremia, Calcinosis, Cataract, Optic atrophy, Hypertension, Hypokalemia, Hypocalcemia |
OMIM:617913 |
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Cataract, Retinal dystrophy |
OMIM:610156 |
Albinism, Oculocutaneous, Type Vi |
|
Hypoplasia of the fovea, Generalized hypopigmentation, Fair hair |
OMIM:113750 |
Waardenburg-Shah Syndrome |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Abnormal eyebrow morphology, White... |
ORPHA:897 |
Tricho-Retino-Dento-Digital Syndrome |
|
Uncombable hair, Abnormality of retinal pigmentation, Juvenile cataract, Sparse hair |
ORPHA:1264 |
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome |
|
Hypertrophic cardiomyopathy, Cataract, Corneal dystrophy |
ORPHA:1369 |
Posttransplant Acute Limbic Encephalitis |
|
Hyponatremia |
ORPHA:163921 |
Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia |
OMIM:300971 |
Flynn-Aird Syndrome |
|
Alopecia of scalp, Alopecia, Cataract, Rod-cone dystrophy |
OMIM:136300 |
Retinitis Pigmentosa 83 |
|
Bone spicule pigmentation of the retina, Vitreous floaters, Posterior subcapsular cataract, Aster... |
OMIM:618173 |
Hypotrichosis 8 |
|
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... |
OMIM:278150 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Microcornea, Cataract, Aniridia |
OMIM:106230 |
Cataract-Nephropathy-Encephalopathy Syndrome |
|
Cataract |
ORPHA:1380 |
Cataract 47 |
|
Microcornea, Cataract |
OMIM:612018 |
Oculocutaneous Albinism Type 1B |
|
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... |
ORPHA:79434 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Cataract, Elevated circulating phytanic acid concentration, Pigmentary retinopathy, Increased cir... |
OMIM:614307 |
Porphyria Variegata |
|
Hyponatremia, Tachycardia, Abnormal circulating porphyrin concentration, Hypertension, Hypopigmen... |
ORPHA:79473 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Hypomagnesemia, Hyperuricemia, Increased blood urea nitrogen, Pulmonary arterial hy... |
OMIM:613845 |
Congenital Primary Aphakia |
|
Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Retinal dysplas... |
ORPHA:83461 |
Retinitis Pigmentosa 10 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at... |
OMIM:180105 |
Waardenburg Syndrome, Type 4A |
|
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... |
OMIM:277580 |
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Cataract, Pulmonary embolism, Congestive heart failure, Hypertension, Hypertrophic cardiomyopathy... |
ORPHA:1345 |
Retinitis Pigmentosa 46 |
|
Optic disc pallor, Posterior subcapsular cataract, Pigmentary retinopathy, Rod-cone dystrophy, At... |
OMIM:612572 |
Aica-Ribosuria Due To Atic Deficiency |
|
Hyponatremia, Optic atrophy |
OMIM:608688 |
Hyperferritinemia With Or Without Cataract |
|
Increased circulating ferritin concentration, Nuclear cataract, Pulverulent cataract |
OMIM:600886 |
Familial Hypoaldosteronism |
|
Hyponatremia, Orthostatic hypotension, Hypovolemia, Hyperkalemia, Increased circulating renin lev... |
ORPHA:427 |
Hemochromatosis, Type 4 |
|
Cataract, Increased circulating ferritin concentration, Elevated transferrin saturation, Cardiomy... |
OMIM:606069 |
Retinitis Pigmentosa 56 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... |
OMIM:613581 |
Ermine Phenotype |
|
White eyelashes, White eyebrow, Albinism, White hair, Spotty hyperpigmentation, Vitiligo |
OMIM:227010 |
Renal Hypoplasia, Bilateral |
|
Hyponatremia, Hypertension, Astigmatism, Hyperkalemia |
ORPHA:97362 |
Intermediate Uveitis |
|
Cataract, Vitreous haze, Band keratopathy, Epiretinal membrane, Vitreous floaters, Macular scar, ... |
ORPHA:279914 |
Upper Limb Defect-Eye And Ear Abnormalities Syndrome |
|
Cataract, Chorioretinal coloboma |
ORPHA:2489 |
Leber Congenital Amaurosis |
|
Keratoconus, Abnormality of retinal pigmentation, Abnormal optic disc morphology, Cataract |
ORPHA:65 |
Generalized Pustular Psoriasis |
|
Hyponatremia, Elevated circulating C-reactive protein concentration, Congestive heart failure, Hy... |
ORPHA:247353 |
Norrie Disease |
|
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia of the iris,... |
OMIM:310600 |
Linear Verrucous Nevus Syndrome |
|
Sparse scalp hair, Cataract, Abnormal cornea morphology, Hypophosphatemia, Retinopathy, Iris colo... |
ORPHA:2611 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14 |
|
Cardiomyopathy, Cataract, Elevated circulating creatine kinase concentration |
OMIM:615352 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyponatremia, Hyperkalemia |
OMIM:614736 |
Neuroleptic Malignant Syndrome |
|
Hyponatremia, Tachycardia, Elevated circulating creatine kinase concentration, Pulmonary embolism... |
ORPHA:94093 |
Acute Adrenal Insufficiency |
|
Hyponatremia, Orthostatic hypotension, Hypercalcemia, Sparse axillary hair, Myocardial infarction... |
ORPHA:95409 |
Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypovolemia, Hypophosp... |
ORPHA:411634 |
Amoebic Keratitis |
|
Iris atrophy, Cataract, Abnormal posterior eye segment morphology, Abnormal corneal epithelium mo... |
ORPHA:67043 |
Leber Congenital Amaurosis 7 |
|
Keratoconus, Cataract |
OMIM:613829 |
Leber Congenital Amaurosis 16 |
|
Optic disc pallor, Cataract |
OMIM:614186 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Hypopigmentation of hair, Generalized hyperpigmentation |
ORPHA:1355 |
Cataract 10, Multiple Types |
|
Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract |
OMIM:600881 |
Whipple Disease |
|
Hyponatremia, Gastrointestinal hemorrhage, Pericarditis, Generalized hyperpigmentation, Myocardia... |
ORPHA:3452 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... |
OMIM:267700 |
Cholera |
|
Hyponatremia, Tachycardia, Abnormal blood ion concentration, Hypovolemic shock, Hypokalemia, Hypo... |
ORPHA:173 |
Hereditary Bullous Dystrophy, Macular Type |
|
Alopecia, Cataract, Corneal opacity, Congenital abnormal hair pattern, Spotty hypopigmentation, H... |
ORPHA:1867 |
Enhanced S-Cone Syndrome |
|
Cataract, Macular edema, Pigmentary retinopathy, Vitreoretinopathy, Retinoschisis |
OMIM:268100 |
Erythrokeratodermia Variabilis |
|
Alopecia, Cataract, Corneal opacity, Hypermelanotic macule, Abnormal hair morphology, Abnormality... |
ORPHA:317 |
Methionine Malabsorption Syndrome |
|
White hair, Blue irides, Positive ferric chloride test |
OMIM:250900 |
Coloboma, Ocular, Autosomal Recessive |
|
Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma |
OMIM:216820 |
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis |
|
Alopecia, Cataract, Sparse eyelashes, Elevated circulating creatine kinase concentration, Sparse ... |
OMIM:615704 |
Chédiak-Higashi Syndrome |
|
Hyponatremia, Hypopigmentation of the skin, Abnormality of retinal pigmentation, Hypertriglycerid... |
ORPHA:167 |
Phenylketonuria |
|
Maternal hyperphenylalaninemia, Cataract, Blue irides, Hyperphenylalaninemia, Generalized hypopig... |
OMIM:261600 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hyponatremia, Hyperpigmentation of the skin, Hyperkalemia, Increased circulating renin level, Hyp... |
ORPHA:90791 |
Uveal Melanoma |
|
Retinal detachment, Iris melanoma, Inferior lens subluxation, Abnormal fundus morphology, Vitreou... |
ORPHA:39044 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Hyponatremia, Abnormal circulating porphyrin concentration, Increased erythrocyte protoporphyrin ... |
ORPHA:100924 |
Anterior Segment Dysgenesis 7 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... |
OMIM:269400 |
Cataract 1, Multiple Types |
|
Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract |
OMIM:116200 |
Familial Glucocorticoid Deficiency |
|
Hyponatremia, Generalized hyperpigmentation, Hyperkalemia, Hypotension, Hypertrophic cardiomyopathy |
ORPHA:361 |
Necrotizing Enterocolitis |
|
Hyponatremia, Shock, Bradycardia, Hypotension |
ORPHA:391673 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Macul... |
OMIM:618195 |
Adrenal Hypoplasia, Congenital |
|
Hyponatremia, Hyperpigmentation of the skin |
OMIM:300200 |
Cystinosis, Nephropathic |
|
Hyponatremia, Hypopigmentation of hair, Retinopathy, Hypomagnesemia, Retinal pigment epithelial m... |
OMIM:219800 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia |
OMIM:214700 |
Piebaldism |
|
Hypopigmentation of hair, White eyelashes, White eyebrow, Synophrys, Piebaldism, Hypopigmented sk... |
ORPHA:2884 |
Fuchs Heterochromic Iridocyclitis |
|
Anterior chamber inflammatory cells, Iris atrophy, Papilledema, Cataract, Optic disc pallor, Reti... |
ORPHA:263479 |
Late-Onset Isolated Acth Deficiency |
|
Hyponatremia, Orthostatic hypotension, Hypercalcemia, Hyperkalemia, Hyperuricemia, Hypotension, V... |
ORPHA:199299 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Rod-cone dystrophy, Cataract, Retinal coloboma |
OMIM:601794 |
Oculocutaneous Albinism Type 1A |
|
Hypoplasia of the fovea, Hypopigmentation of hair, Albinism, Ocular albinism, Abnormal optic nerv... |
ORPHA:79431 |
Legionnaires Disease |
|
Hyponatremia, Pericarditis, Myocarditis, Hypotension, Arrhythmia |
ORPHA:549 |
Cataract 14, Multiple Types |
|
Zonular cataract |
OMIM:601885 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Hyponatremia, Alopecia, Alopecia totalis, Hyperkalemia, Nail dystrophy, Hypotension, Abnormality ... |
ORPHA:293978 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Hyponatremia, Cerebral vasculitis |
ORPHA:83601 |
Elejalde Neuroectodermal Melanolysosomal Syndrome |
|
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... |
OMIM:256710 |
Retinal Dystrophy And Iris Coloboma With Or Without Cataract |
|
Retinal atrophy, Posterior synechiae of the anterior chamber, Iris coloboma, Developmental cataract |
OMIM:616722 |
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Alopecia, Cataract, Sparse eyelashes, Keratitis, Scarring alopecia of scalp, Sparse eyebrow, Conj... |
OMIM:612843 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Hypocalcemia, Cataract, Hyperphosphatemia, Hypocalcemic seizures |
OMIM:146200 |
3-Methylglutaconic Aciduria Type 4 |
|
Cardiomyopathy, Cataract, Iris hypopigmentation |
ORPHA:67048 |
Ermine Phenotype |
|
Hypopigmentation of hair, Ocular albinism, Hypopigmented skin patches, Astigmatism, Irregular hyp... |
ORPHA:999 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Rod-cone dystrophy, Cataract, Retinal coloboma |
ORPHA:363741 |
Albinism, Oculocutaneous, Type Ia |
|
Hypoplasia of the fovea, Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair... |
OMIM:203100 |
Proximal Myotonic Myopathy |
|
Cataract |
ORPHA:606 |
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia |
|
Nail dystrophy, Cataract, Alopecia totalis |
ORPHA:1366 |
Herpes Simplex Virus Encephalitis |
|
Hyponatremia, Elevated circulating C-reactive protein concentration |
ORPHA:1930 |
Retinitis Pigmentosa 43 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Pigme... |
OMIM:613810 |
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness |
|
Cataract, Retinal thinning, Asteroid hyalosis |
OMIM:132450 |
Mirage Syndrome |
|
Hyponatremia, Achalasia, Hyperkalemia, Intracranial hemorrhage |
OMIM:617053 |
Waardenburg Syndrome Type 1 |
|
Hypopigmentation of hair, White eyelashes, White eyebrow, Abnormal hair morphology, Synophrys, Wh... |
ORPHA:894 |
Peters Anomaly |
|
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... |
ORPHA:708 |
Piebald Trait |
|
Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, White forelock, Heterochr... |
OMIM:172800 |
Sympathetic Ophthalmia |
|
Papilledema, Alopecia, Cataract, Retinal detachment, Poliosis, Vitreous floaters, Vitritis, Retin... |
ORPHA:79098 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Hyponatremia, Elevated circulating creatine kinase concentration, Optic neuropathy, Dilated cardi... |
OMIM:610505 |
Pituitary Apoplexy |
|
Hyponatremia, Hypertension, Hypotension, Mydriasis |
ORPHA:95613 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:177910 |
Shigellosis |
|
Hyponatremia, Myocarditis, Abnormal blood ion concentration, Hypovolemic shock, Conjunctivitis, C... |
ORPHA:810 |
Persistent Hyperplastic Primary Vitreous |
|
Glial remnants anterior to the optic disc, Cataract, Corneal opacity, Hyaloid vascular remnant an... |
ORPHA:91495 |
Autosomal Recessive Stickler Syndrome |
|
Retinal detachment, Vitreoretinopathy, Cataract, Astigmatism |
ORPHA:250984 |
Peroxisome Biogenesis Disorder 9B |
|
Cardiomyopathy, Cataract, Elevated circulating phytanic acid concentration, Rod-cone dystrophy |
OMIM:614879 |
Refsum Disease, Classic |
|
Cataract, Congestive heart failure, Elevated circulating phytanic acid concentration, Cardiomyopa... |
OMIM:266500 |
Infantile Spasms-Broad Thumbs Syndrome |
|
Optic disc pallor, Hypertrophic cardiomyopathy, Cataract |
ORPHA:3173 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Cataract |
OMIM:273680 |
Wolcott-Rallison Syndrome |
|
Hyponatremia, Hyperammonemia, Hypoalbuminemia, Hyperbilirubinemia |
ORPHA:1667 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoalbuminemia... |
OMIM:603553 |
Bardet-Biedl Syndrome 9 |
|
Bone spicule pigmentation of the retina, Cataract, Astigmatism, Rod-cone dystrophy, Retinal degen... |
OMIM:615986 |
Oculoauricular Syndrome |
|
Cone/cone-rod dystrophy, Retinal detachment, Cataract, Sclerocornea, Morning glory anomaly, Rod-c... |
OMIM:612109 |
Sheehan Syndrome |
|
Hyponatremia, Orthostatic hypotension, Sparse axillary hair, Sparse pubic hair, Bradycardia, Palp... |
ORPHA:91355 |
Alg12-Cdg |
|
Hyponatremia, Retinal detachment, Low posterior hairline, Hypoalbuminemia, Small nail, Hypocholes... |
ORPHA:79324 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Hyphema, Leukocoria, Microcor... |
OMIM:221900 |
Cataract 3, Multiple Types |
|
Nuclear pulverulent cataract, Sutural cataract, Cerulean cataract, Developmental cataract |
OMIM:601547 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Hematochezia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia |
OMIM:618183 |
Chronic Bilirubin Encephalopathy |
|
Conjunctival icterus, Abnormal conjunctiva morphology, Hypoalbuminemia, Hypernatremia, Neonatal h... |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Conjunctival icterus, Abnormal conjunctiva morphology, Hypoalbuminemia, Hypernatremia, Neonatal h... |
ORPHA:529799 |
Galactose Mutarotase Deficiency |
|
Cataract, Hypergalactosemia |
ORPHA:570422 |
Classic Phenylketonuria |
|
Hypopigmentation of hair, Cataract, Hypopigmentation of the skin, Hyperphenylalaninemia |
ORPHA:79254 |
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development |
|
Hypokalemia, Cataract, Hyperamylasemia, Band keratopathy |
OMIM:604278 |
Holoprosencephaly |
|
Hyponatremia, Highly arched eyebrow, Synophrys, Optic atrophy, Chorioretinal coloboma, Arrhythmia... |
ORPHA:2162 |
Pellagra-Like Syndrome |
|
Cataract |
OMIM:260650 |
Weill-Marchesani Syndrome |
|
Cataract, Ectopia lentis, Mitral regurgitation, Pulmonic stenosis, Aortic valve stenosis |
ORPHA:3449 |
Anterior Segment Dysgenesis 2 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... |
OMIM:610256 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Hypokalemia, Hypochloremia |
OMIM:613090 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Retinal detachment, Cataract, Corneal opacity, Chorioretinal dysplasia, Chorioretinal lacunae, My... |
OMIM:152950 |
Idiopathic Panuveitis |
|
Cataract, Choroidal neovascularization, Vitreous haze, Vitreous floaters, Epiretinal membrane, Vi... |
ORPHA:280921 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyponatremia, Sparse scalp hair, Cataract, Corneal opacity, Hypoammonemia, Chorioretinal dysplasi... |
ORPHA:534 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Alopecia, Cataract, Hematochezia, Hypokalemia, Hypocalcemia, Nail dysplasia, Hypomagnesemia, Nail... |
OMIM:175500 |
Cataract 6, Multiple Types |
|
Posterior polar cataract, Choroideremia, Developmental cataract |
OMIM:116600 |
Addison Disease |
|
Hyponatremia, Orthostatic hypotension, Hypercalcemia, Sparse axillary hair, Hyperkalemia, Increas... |
ORPHA:85138 |
Ifap Syndrome 2 |
|
Cataract, Keratitis, Keratoconjunctivitis sicca, Nail dystrophy, Atrichia, Sparse hair |
OMIM:619016 |
Aniridia 1 |
|
Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia... |
OMIM:106210 |
Cataract 16, Multiple Types |
|
Posterior polar cataract, Retinal dystrophy, Lenticonus, Developmental cataract |
OMIM:613763 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Optic nerve hypoplasia, Retinal detachment, Cataract, Elevated circulating creatine kinase concen... |
OMIM:615181 |
Severe Early-Childhood-Onset Retinal Dystrophy |
|
Abnormality of retinal pigmentation, Bone spicule pigmentation of the retina, Rhegmatogenous reti... |
ORPHA:364055 |
Posterior Column Ataxia With Retinitis Pigmentosa |
|
Bone spicule pigmentation of the retina, Cataract, Optic atrophy, Pigmentary retinopathy, Achalas... |
OMIM:609033 |
Griscelli Syndrome Type 2 |
|
Hypopigmentation of hair, Partial albinism, Hyperlipidemia, Premature graying of hair, Iris hypop... |
ORPHA:79477 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Hypopigmentation of hair, Hypopigmented skin patches, Microcornea, Anterior synechiae of the ante... |
ORPHA:3214 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyponatremia, Hyperkalemia, Hyperpigmentation of the skin |
ORPHA:90790 |
Infantile Refsum Disease |
|
Cataract, Elevated circulating phytanic acid concentration, Optic atrophy, Cardiomyopathy, Arrhyt... |
ORPHA:772 |
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome |
|
Achalasia, Cataract, Thick eyebrow, Developmental cataract |
ORPHA:436174 |
Chromosome 16Q12 Duplication Syndrome |
|
Anisocoria, Retinal pigment epithelial mottling, Cataract, Temporal optic disc pallor |
OMIM:619649 |
Cataract 48 |
|
Cataract |
OMIM:618415 |
Hermansky-Pudlak Syndrome 11 |
|
Hypoplasia of the fovea, Epistaxis, Albinism, Ocular albinism, Melanocytic nevus, Iris transillum... |
OMIM:619172 |
Cronkhite-Canada Syndrome |
|
Alopecia, Cataract, Abnormal fingernail morphology, Generalized hyperpigmentation, Hypoplastic to... |
ORPHA:2930 |
Hereditary Mucoepithelial Dysplasia |
|
Alopecia, Cataract, Corneal dystrophy, Fine hair, Sparse hair |
ORPHA:1839 |
Cataract 5, Multiple Types |
|
Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract |
OMIM:116800 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Hyponatremia, Generalized hyperpigmentation, Hyperkalemia, Hypovolemia, Abnormal circulating chol... |
ORPHA:168558 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Hyponatremia, Generalized hyperpigmentation, Hyperkalemia, Hypovolemia, Abnormal circulating chol... |
ORPHA:289548 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Cataract, Abnormal fingernail morphology, Corneal dystrophy, Sclerocornea, Fine hair, Microcornea... |
ORPHA:1806 |
Hermansky-Pudlak Syndrome 1 |
|
Hypopigmentation of hair, Freckles in sun-exposed areas, Epistaxis, Albinism, Ocular albinism, Me... |
OMIM:203300 |
Hermansky-Pudlak Syndrome 3 |
|
Spontaneous, recurrent epistaxis, Hypopigmentation of hair, Hypopigmentation of the skin, Albinism |
OMIM:614072 |
Autoimmune Hypoparathyroidism |
|
Prolonged QT interval, Cataract, Ventricular arrhythmia, Abnormal left ventricular function, Hype... |
ORPHA:36913 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Myocardial infarction, Elevated circulating creatinine concentration, Hypertension,... |
ORPHA:90038 |
Brittle Cornea Syndrome 1 |
|
Keratoconus, Keratoglobus, Abnormal cornea morphology, Decreased corneal thickness, Red hair |
OMIM:229200 |
Isolated Ectopia Lentis |
|
Hypertension, Ectopia pupillae, Cataract, Ectopia lentis |
ORPHA:1885 |
Aniridia 3 |
|
Aniridia, Cataract |
OMIM:617142 |
Hypogonadism-Cataract Syndrome |
|
Cataract |
OMIM:240950 |
Adenohypophysitis |
|
Hyponatremia, Orthostatic hypotension |
ORPHA:95512 |
Incontinentia Pigmenti |
|
Ridged nail, Abnormality of skin pigmentation, Coarse hair, Sparse hair, Atrophic, patchy alopeci... |
OMIM:308300 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:411515 |
Familial Isolated Hypoparathyroidism |
|
Arrhythmia, Cataract, Hypocalcemia |
ORPHA:2238 |
Cochleosaccular Degeneration-Cataract Syndrome |
|
Cataract |
ORPHA:3233 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Sparse hair, Hypernatremia, Hypoalbuminemia, Pulmonic stenosis |
OMIM:615508 |
Microphthalmia With Brain And Digit Anomalies |
|
Cataract, Retinal dystrophy, Sclerocornea, Microcornea, Nail dysplasia, Chorioretinal coloboma, I... |
ORPHA:139471 |
Aniridia And Absent Patella |
|
Aniridia, Cataract |
OMIM:106220 |
Cataract 20, Multiple Types |
|
Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract |
OMIM:116100 |
Chromosome Xp11.3 Deletion Syndrome |
|
Cataract, Posterior subcapsular cataract, Optic atrophy, Pigmentary retinopathy, Rod-cone dystrop... |
OMIM:300578 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Dilated cardiomyopathy, Cataract, Hypoalbuminemia, Reduced systolic function |
OMIM:618805 |
Panhypophysitis |
|
Hyponatremia, Orthostatic hypotension |
ORPHA:95513 |
Joubert Syndrome 9 |
|
Cataract, Retinal dystrophy, Astigmatism |
OMIM:612285 |
Brittle Cornea Syndrome |
|
Retinal detachment, Corneal dystrophy, Corneal erosion, Abnormality of hair pigmentation, Corneal... |
ORPHA:90354 |
Waardenburg Syndrome, Type 2E |
|
White eyelashes, White eyebrow, Ocular albinism, Blue irides, Hypopigmented skin patches, Hypopla... |
OMIM:611584 |
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract |
|
Rod-cone dystrophy, Subcapsular cataract, Optic atrophy, Cataract |
OMIM:612674 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Hyperglutaminemia, Low plasma citrulline, Hyperammonemia, Hyperprolinemia, Hypoornithinemia, Hype... |
OMIM:615751 |
Acute Intermittent Porphyria |
|
Hyponatremia, Hypertension, Tachycardia |
ORPHA:79276 |
Coats Disease |
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Exudative retinal detachment, Leukocoria, Retinal telangiectasia |
OMIM:300216 |
Lysosomal Acid Lipase Deficiency |
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Hyponatremia, Hypertriglyceridemia, Hypovolemia, Hyperkalemia, Pulmonary arterial hypertension, H... |
ORPHA:275761 |
Glucose-Galactose Malabsorption |
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Hypernatremia, Hypercalcemia |
ORPHA:35710 |
Anterior Segment Dysgenesis 1 |
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Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula... |
OMIM:107250 |
Obesity And Hypopigmentation |
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Red hair |
OMIM:620195 |
Phacoanaphylactic Uveitis |
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Keratitis, Abnormal pupil morphology, Abnormal corneal endothelium morphology, Hyphema, Retinal a... |
ORPHA:209959 |
Japanese Encephalitis |
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Hyponatremia |
ORPHA:79139 |
Bartter Syndrome Type 4 |
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Hyponatremia, Hypochloremia, Hypertension, Hypokalemia, Increased circulating renin level, Hypoma... |
ORPHA:89938 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
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Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Optic atrophy, Rod-cone dys... |
OMIM:268315 |
Congenital Sialidosis Type 2 |
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Hypoplasia of the fovea, Abnormal EKG, Cataract, Corneal opacity, Optic atrophy, Developmental ca... |
ORPHA:93400 |
Ataxia-Telangiectasia |
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Hypopigmentation of hair, Telangiectasia of the skin, Premature graying of hair, Multiple cafe-au... |
ORPHA:100 |
Hermansky-Pudlak Syndrome |
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Gastrointestinal hemorrhage, Hypopigmentation of hair, Cataract, Partial albinism, Epistaxis, Ocu... |
ORPHA:79430 |
Infection-Related Hemolytic Uremic Syndrome |
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Hyponatremia, Myocarditis, Hyperkalemia, Hypertension, Hypocalcemia, Hypertensive crisis |
ORPHA:544482 |
Trichothiodystrophy 1, Photosensitive |
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Cataract, Brittle hair, Trichoschisis, Fine hair, Microcornea, Telangiectasia, Keratoconjunctivit... |
OMIM:601675 |
Premature Aging Syndrome, Okamoto Type |
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Abnormal hair morphology, Cataract |
OMIM:601811 |
Hermansky-Pudlak Syndrome 8 |
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Hypoplasia of the fovea, Optic disc pallor, Epistaxis, Albinism, Silver-gray hair, Myopic astigma... |
OMIM:614077 |
Squalene Synthase Deficiency |
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Optic nerve hypoplasia, Increased circulating farnesol concentration, Abnormality of hair pigment... |
OMIM:618156 |
Dahlberg-Borer-Newcomer Syndrome |
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Anonychia, Cataract, Hypocalcemia, Generalized hirsutism |
ORPHA:1563 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
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Hyponatremia, Hyperchloriduria, Hypokalemia, Hypochloremia |
OMIM:602522 |
Cahmr Syndrome |
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Lamellar cataract, Generalized hypertrichosis |
OMIM:211770 |
Diabetes Insipidus, Nephrogenic, 2, Autosomal |
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Hypernatremia |
OMIM:125800 |
Acrodysostosis 2 With Or Without Hormone Resistance |
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Red hair, Fair hair, Blue irides |
OMIM:614613 |
Pierson Syndrome |
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Retinal detachment, Rieger anomaly, Cataract, Hypoplasia of the ciliary body, Remnants of the hya... |
OMIM:609049 |
Diabetes Insipidus, Nephrogenic, 1, X-Linked |
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Hypernatremia |
OMIM:304800 |
Incontinentia Pigmenti |
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Abnormality of skin pigmentation, Abnormal toenail morphology, Abnormality of the nail, Alopecia,... |
ORPHA:464 |
Nephrogenic Diabetes Insipidus |
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Hypernatremia, Hypovolemia |
ORPHA:223 |
Waardenburg Syndrome |
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Abnormal eyebrow morphology, Hypopigmentation of hair, Synophrys, Hypopigmented skin patches, Abn... |
ORPHA:3440 |
Acquired Hypertrichosis Lanuginosa |
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Abnormal eyebrow morphology, Hypopigmentation of hair, Generalized hirsutism, Fine hair |
ORPHA:2221 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
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Hyponatremia, Shock, Frontal balding, Hyperkalemia, Hypovolemia, Hypochloremia, Hypotension, Hirs... |
ORPHA:90794 |
Autoimmune Polyendocrinopathy Type 1 |
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Alopecia, Cataract, Abnormal fingernail morphology, Hypopigmented skin patches, Opacification of ... |
ORPHA:3453 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
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Hypertrophic cardiomyopathy, Hypopigmentation of hair, Congestive heart failure |
ORPHA:70472 |
Cataract 39, Multiple Types |
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Lamellar cataract, Anterior polar cataract, Developmental cataract |
OMIM:615188 |
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
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Hyponatremia, Hyperkalemia |
OMIM:201810 |
Pyruvate Carboxylase Deficiency |
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Hypoglutaminemia, Increased serum pyruvate, Hyperglutamatemia, Hyperammonemia, Hyperprolinemia, H... |
ORPHA:3008 |
Liver Disease, Severe Congenital |
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Hyponatremia, Dry hair, Elevated circulating alpha-fetoprotein concentration, Increased circulati... |
OMIM:619991 |
Waardenburg Syndrome, Type 4C |
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White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... |
OMIM:613266 |
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy |
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Buphthalmos, Cataract, Retinal dystrophy, Elevated circulating creatine kinase concentration |
ORPHA:370997 |
Mucoepithelial Dysplasia, Hereditary |
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Alopecia, Cataract, Keratoconjunctivitis, Melena, Coarse hair, Nail dystrophy, Opacification of t... |
OMIM:158310 |
Obesity Due To Prohormone Convertase I Deficiency |
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Red hair, Hypopigmentation of the skin |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
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Red hair, Hypopigmentation of the skin |
ORPHA:71526 |
Papillorenal Syndrome |
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Retinal detachment, Cataract, Morning glory anomaly, Lens luxation, Macular hyperpigmentation, Op... |
OMIM:120330 |
Waardenburg Syndrome, Type 1 |
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White eyelashes, Partial albinism, White eyebrow, Synophrys, Blue irides, Premature graying of ha... |
OMIM:193500 |
Cataract 30, Multiple Types |
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Posterior polar cataract, Diffuse nuclear cataract, Pulverulent cataract |
OMIM:116300 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
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Hyponatremia, Hypokalemia |
OMIM:618426 |
Carney Complex, Type 1 |
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Congestive heart failure, Multiple lentigines, Red hair, Freckling, Profuse pigmented skin lesion... |
OMIM:160980 |
Werner Syndrome |
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Cataract, Hypertriglyceridemia, Elevated hemoglobin A1c, Alopecia of scalp, Retinal degeneration |
OMIM:277700 |
Vici Syndrome |
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Hypopigmentation of hair, Cataract, Elevated circulating creatine kinase concentration, Macular a... |
OMIM:242840 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
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Cataract, White hair, Ocular albinism, Generalized hypopigmentation, Iris hypopigmentation |
ORPHA:2720 |
Alport Syndrome 2, Autosomal Recessive |
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Hypertension, Corneal erosion, Cataract, Anterior lenticonus |
OMIM:203780 |
Knobloch Syndrome |
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Retinal detachment, Cataract, Ectopia lentis, Abnormal hair morphology, Abnormal vitreous humor m... |
ORPHA:1571 |
Cataract 31, Multiple Types |
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Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract |
OMIM:605387 |
Aniridia-Absent Patella Syndrome |
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Aniridia, Cataract |
ORPHA:1069 |
Mitochondrial Complex I Deficiency, Nuclear Type 32 |
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Hyponatremia |
OMIM:618252 |
Autosomal Recessive Polycystic Kidney Disease |
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Hyponatremia, Gastrointestinal hemorrhage, Portal hypertension, Hypertension, Increased serum bil... |
ORPHA:731 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
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Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:98795 |
Webb-Dattani Syndrome |
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Hypernatremia |
OMIM:615926 |
Chediak-Higashi Syndrome |
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Spontaneous, recurrent epistaxis, Hypopigmentation of hair, Silver-gray hair, Ocular albinism, Gi... |
OMIM:214500 |
Cataract 15, Multiple Types |
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Lamellar cataract, Nuclear cataract, Cortical cataract |
OMIM:615274 |
Cataract 33, Multiple Types |
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Lamellar cataract, Nuclear cataract, Cortical cataract |
OMIM:611391 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
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Hypopigmentation of hair, Cataract, Corneal opacity, Ocular albinism, Choroideremia, Iris hypopig... |
ORPHA:2719 |
Classic Homocystinuria |
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Gastrointestinal hemorrhage, Abnormality of retinal pigmentation, Sparse scalp hair, Cataract, Re... |
ORPHA:394 |
Microphthalmia, Syndromic 5 |
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Microcornea, Cataract, Retinal dystrophy, Optic nerve hypoplasia |
OMIM:610125 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
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Hyponatremia, Hyperlipidemia, Hyperkalemia |
ORPHA:293987 |
Angelman Syndrome Due To A Point Mutation |
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Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:411511 |
Oculo-Palato-Cerebral Syndrome |
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Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Leukocoria, Aplasia/Hypopl... |
ORPHA:2714 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
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Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Abnormal circulating... |
ORPHA:247598 |
Chondrodysplasia Punctata, Autosomal Dominant |
|
Sparse hair, Coarse hair, Cataract |
OMIM:118650 |
Hypohidrotic Ectodermal Dysplasia |
|
Abnormal hair quantity, Slow-growing hair, Aplasia/Hypoplasia of the eyebrow, Keratoconjunctiviti... |
ORPHA:238468 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Hypopigmentation of hair, Cafe-au-lait spot, Hypopigmentation of the skin |
OMIM:618541 |
Muenke Syndrome |
|
Hypopigmentation of hair, Hypopigmented skin patches, Hypermelanotic macule |
ORPHA:53271 |
Duane Retraction Syndrome |
|
Central heterochromia, Patchy hypopigmentation of hair, Optic disc hypoplasia, Abnormal pupil mor... |
ORPHA:233 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Red hair, Hyperbilirubinemia |
OMIM:609734 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Hyponatremia, Hypertension, Hyperkalemia, Decreased circulating renin level |
OMIM:201750 |
Koolen-De Vries Syndrome |
|
Hypopigmentation of hair, Cataract, Abnormality of hair texture |
ORPHA:96169 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:98794 |
Hoyeraal-Hreidarsson Syndrome |
|
Sparse scalp hair, Generalized hyperpigmentation, Premature graying of hair, Nail dystrophy, Gene... |
ORPHA:3322 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Hypopigmented skin patches, Premature gray... |
ORPHA:163746 |
Syndromic Diarrhea |
|
Aortic regurgitation, Hypopigmentation of hair, Brittle hair, Abnormality of iron homeostasis, Un... |
ORPHA:84064 |
Blau Syndrome |
|
Pericarditis, Cataract, Band keratopathy, Hypertension, Iritis, Cystoid macular edema |
OMIM:186580 |
Immunodeficiency 82 With Systemic Inflammation |
|
Hypernatremia, Hypoalbuminemia, Vasculitis in the skin, Elevated circulating C-reactive protein c... |
OMIM:619381 |
Hartsfield Syndrome |
|
Hypernatremia |
OMIM:615465 |
Prader-Willi Syndrome |
|
Hypopigmentation of hair, Frontal upsweep of hair, Generalized hypopigmentation, Hypopigmentation... |
OMIM:176270 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Hypopigmentation of hair, Chorioretinal hypopigmentation, Hypopigmentation of the skin |
ORPHA:398079 |
Prader-Willi Syndrome Due To Translocation |
|
Hypopigmentation of hair, Stellate iris, Hypopigmentation of the skin, Hyperpigmentation of the s... |
ORPHA:177907 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Hypopigmentation of hair, Chorioretinal hypopigmentation, Hypopigmentation of the skin |
ORPHA:398069 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:98754 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:98793 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:177904 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:177901 |
Smith-Lemli-Opitz Syndrome |
|
Hypopigmentation of hair, Cataract, Sclerocornea, Abnormal eyelash morphology, Optic atrophy, Ele... |
ORPHA:818 |
Autosomal Recessive Faciodigitogenital Syndrome |
|
Dry hair, Coarse hair, Hypopigmentation of hair, Widow's peak |
ORPHA:1974 |
Degcags Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Tachycardia, Abnormal eyelash morphology, ... |
OMIM:619488 |
Prader-Willi Syndrome |
|
Hypertension, Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:739 |
Menkes Disease |
|
Gastrointestinal hemorrhage, Hypopigmentation of hair, Intracranial hemorrhage, Sparse hair, Wool... |
ORPHA:565 |
Aplasia Cutis Congenita |
|
|
ORPHA:1114 |
Aplasia Cutis Congenita, Nonsyndromic |
|
|
OMIM:107600 |