| Retinitis Pigmentosa 42 |
|
Perifoveal ring of hyperautofluorescence, Rod-cone dystrophy, Peripapillary atrophy, Cystoid macu... |
OMIM:612943 |
| Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Abnormal hair quantity, Lymphopenia, Hypoproteinemia, Chorioretinal coloboma |
ORPHA:1116 |
| Retinal Dysplasia, Primary |
|
Retinal dysplasia, Falciform retinal fold |
OMIM:312550 |
| Retinitis Pigmentosa 36 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... |
OMIM:610599 |
| Leber Hereditary Optic Neuropathy, Modifier Of |
|
Optic atrophy, Leber optic atrophy |
OMIM:308905 |
| Leber Congenital Amaurosis 13 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret... |
OMIM:612712 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia, Cardiomegaly |
ORPHA:88643 |
| Auditory Neuropathy And Optic Atrophy |
|
Rod-cone dystrophy, Optic atrophy |
OMIM:617717 |
| Griscelli Syndrome, Type 3 |
|
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes |
OMIM:609227 |
| Lymphangiectasia, Intestinal |
|
Abnormal hair morphology, Lymphopenia, Neonatal hypoproteinemia |
OMIM:152800 |
| Griscelli Syndrome, Type 1 |
|
Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar... |
OMIM:214450 |
| Enterokinase Deficiency |
|
Hypoproteinemia |
OMIM:226200 |
| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Hypoalbuminemia, Increased serum bile ... |
OMIM:619868 |
| Foveal Hypoplasia-Presenile Cataract Syndrome |
|
Generalized hyperpigmentation, Optic atrophy |
ORPHA:2253 |
| Refractory Celiac Disease |
|
Normocytic anemia, Macrocytic anemia, Microcytic anemia, Increased proportion of HLA DR+ T cells,... |
ORPHA:398063 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increa... |
OMIM:267700 |
| Albinism, Oculocutaneous, Type Iv |
|
Hypopigmentation of hair, Albinism, Blue irides, Macular hypoplasia, Hypopigmentation of the fundus |
OMIM:606574 |
| Dilution, Pigmentary |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Hypopigmentation of the fundus, Iris hypo... |
OMIM:126070 |
| Optic Atrophy 9 |
|
Optic disc pallor, Optic atrophy |
OMIM:616289 |
| Omenn Syndrome |
|
Hepatomegaly, Alopecia, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, H... |
OMIM:603554 |
| Immunodeficiency 43 |
|
Decreased circulating beta-2-microglobulin level, B lymphocytopenia, Hypoalbuminemia, Reduced nat... |
OMIM:241600 |
| Nephrotic Syndrome, Type 7 |
|
Hemolytic anemia, Hypoalbuminemia, Thrombocytopenia |
OMIM:615008 |
| Albinism, Oculocutaneous, Type Ib |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Hypopigmentation of the fundus, Albinism |
OMIM:606952 |
| Optic Atrophy--Spastic Paraplegia Syndrome |
|
Optic atrophy |
OMIM:311100 |
| Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Increased circulating creatine kinase MM isoform, Cardiomyopathy, Hypoalbuminemia, Hypermethionin... |
OMIM:613752 |
| Optic Atrophy 13 With Retinal And Foveal Abnormalities |
|
Optic atrophy, Attenuation of retinal blood vessels |
OMIM:165510 |
| Optic Atrophy 2 |
|
Optic atrophy |
OMIM:311050 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:607250 |
| Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Dominant |
|
Optic atrophy |
OMIM:165199 |
| Ceroid Lipofuscinosis, Neuronal, 9 |
|
Vacuolated lymphocytes, Rod-cone dystrophy, Optic atrophy |
OMIM:609055 |
| Retinitis Pigmentosa 57 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Absent foveal reflex, Rod-cone dystro... |
OMIM:613582 |
| Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Lymphopenia, Hypoproteinemia |
OMIM:207731 |
| Retinitis Pigmentosa 30 |
|
Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal atrophy, Rod-cone dystrophy... |
OMIM:607921 |
| Gastritis, Familial Giant Hypertrophic |
|
Hypoproteinemia |
OMIM:137280 |
| Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness |
|
Optic atrophy |
OMIM:136600 |
| Retinitis Pigmentosa 33 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... |
OMIM:610359 |
| Retinitis Pigmentosa 71 |
|
Optic disc pallor, Optic disc drusen, Perifoveal ring of hyperautofluorescence, Rod-cone dystroph... |
OMIM:616394 |
| Primary Membranoproliferative Glomerulonephritis |
|
Drusen, Hypoalbuminemia |
ORPHA:54370 |
| Woolly Hair |
|
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormal retinal morphology, Abnormali... |
ORPHA:170 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Splenomegaly, Thrombocytopenia, I... |
OMIM:603553 |
| Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
| Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hepatomegaly, Iron deficiency anemia, Hypoalbuminemia, Thrombocytosis, Hypoproteinemia, Anemia |
OMIM:226300 |
| Nephrotic Syndrome, Type 15 |
|
Hypoalbuminemia |
OMIM:617609 |
| Leber Congenital Amaurosis 19 |
|
Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels |
OMIM:618513 |
| Birdshot Chorioretinopathy |
|
Retinal detachment, Optic disc pallor, Abnormal chorioretinal morphology, Choroidal neovasculariz... |
ORPHA:179 |
| Intrinsic Factor Deficiency |
|
Increased RBC distribution width, Megaloblastic anemia, Increased mean corpuscular volume, Megalo... |
OMIM:261000 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean cor... |
OMIM:616689 |
| Albinism, Oculocutaneous, Type Iii |
|
Red hair, Partial albinism, Albinism |
OMIM:203290 |
| Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Hypoproteinemia |
OMIM:221400 |
| Erythroderma, Lethal Congenital |
|
Hypoalbuminemia |
OMIM:227090 |
| Autoinflammation With Infantile Enterocolitis |
|
Pancytopenia, Elevated circulating C-reactive protein concentration, Splenomegaly, Increased circ... |
OMIM:616050 |
| Wagner Vitreoretinopathy |
|
Retinal pigment epithelial atrophy, Optically empty vitreous, Optic atrophy, Chorioretinal atroph... |
OMIM:143200 |
| Liberfarb Syndrome |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal degeneration, Retinal pigment... |
OMIM:618889 |
| Focal Segmental Glomerulosclerosis 1 |
|
Hyperlipidemia, Hypoalbuminemia, Anemia |
OMIM:603278 |
| Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:615863 |
| Peripheral Cone Dystrophy |
|
Cone/cone-rod dystrophy, Optic disc pallor, Optic atrophy, Peripheral retinal degeneration |
OMIM:609021 |
| Glaucoma 1, Open Angle, P |
|
Increased cup-to-disc ratio |
OMIM:177700 |
| Neuroectodermal Melanolysosomal Disease |
|
Hypopigmentation of hair, Generalized hyperpigmentation, Optic atrophy, Premature graying of hair... |
ORPHA:33445 |
| Retinitis Pigmentosa 11 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul... |
OMIM:600138 |
| Immunodeficiency 32B |
|
Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Thrombocytopenia, Impaired oxidative burs... |
OMIM:226990 |
| Ménétrier Disease |
|
Hypoproteinemia, Hypoalbuminemia, Hypochromic microcytic anemia |
ORPHA:2494 |
| Retinitis Pigmentosa 81 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A... |
OMIM:617871 |
| Retinitis Pigmentosa 62 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Rod-cone dyst... |
OMIM:614181 |
| Chédiak-Higashi Syndrome |
|
Large clumps of pigment irregularly distributed along hair shaft, Vacuolated lymphocytes, Neutrop... |
ORPHA:167 |
| Diarrhea 13 |
|
Hypoalbuminemia |
OMIM:620357 |
| Griscelli Syndrome, Type 2 |
|
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hepatosplenomegaly, Hemophagocytosi... |
OMIM:607624 |
| Primary Intestinal Lymphangiectasia |
|
Hypoproteinemia, Pericardial effusion, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Decreased p... |
ORPHA:90362 |
| Tietz Syndrome |
|
Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e... |
ORPHA:42665 |
| Oculocutaneous Albinism, Type Viii |
|
Hypoplasia of the fovea, Hypopigmentation of hair, Iris transillumination defect, Chorioretinal h... |
OMIM:619165 |
| Retinitis Pigmentosa 32 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor... |
OMIM:609913 |
| Nephrotic Syndrome, Type 1 |
|
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:256300 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Extramedullary hematopoiesis, Overriding aorta, Ventricular septal defect, ... |
OMIM:617021 |
| Immunodeficiency 27A |
|
Splenomegaly, Leukocytosis, Hepatosplenomegaly, Hypoalbuminemia, Thrombocytosis, Anemia, Histiocy... |
OMIM:209950 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Dilated cardiomyopathy, Hypoalbuminemia, Microcytic anemia |
OMIM:618805 |
| Johanson-Blizzard Syndrome |
|
Alopecia, Dextrocardia, Abnormal hair pattern, Abnormal cardiac septum morphology, Hypoproteinemi... |
ORPHA:2315 |
| Analbuminemia |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypoalbuminemia, Elevated circulat... |
OMIM:616000 |
| Nephrotic Syndrome, Type 9 |
|
Hypoalbuminemia |
OMIM:615573 |
| Alg6-Cdg |
|
Rod-cone dystrophy, Hypoalbuminemia, Decreased LDL cholesterol concentration, Retinal degeneration |
ORPHA:79320 |
| Optic Atrophy 3, Autosomal Dominant |
|
Optic disc pallor, Optic atrophy |
OMIM:165300 |
| Leishmaniasis |
|
Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Anemia, Leukopenia, Hyp... |
ORPHA:507 |
| Focal Segmental Glomerulosclerosis 6 |
|
Hypoalbuminemia |
OMIM:614131 |
| Retinitis Pigmentosa 95 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluoresce... |
OMIM:620102 |
| Dengue Fever |
|
Hepatomegaly, Thrombocytopenia, Hypoproteinemia, Leukopenia |
ORPHA:99828 |
| Cone-Rod Dystrophy 16 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Beaten bronz... |
OMIM:614500 |
| Hidrotic Ectodermal Dysplasia |
|
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... |
ORPHA:189 |
| Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Neonatal hyperbilirubinemia, Anemia of inad... |
ORPHA:3202 |
| Coenzyme Q10 Deficiency, Primary, 3 |
|
Hypoalbuminemia |
OMIM:614652 |
| X-Linked Retinal Dysplasia |
|
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia |
ORPHA:1852 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Splenomegaly, Synophrys, Thrombocytopenia, Optic atrophy, Low anterior hairline, Hi... |
OMIM:617303 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentratio... |
OMIM:308240 |
| Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly |
OMIM:604765 |
| Ocular Pigment Dispersion With Or Without Glaucoma |
|
Optic atrophy |
OMIM:600510 |
| Usher Syndrome, Type 1M |
|
Drusen, Optic disc pallor, Left ventricular hypertrophy |
OMIM:618632 |
| Retinitis Pigmentosa 70 |
|
Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of... |
OMIM:615922 |
| Retinoschisis 1, X-Linked, Juvenile |
|
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... |
OMIM:312700 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
ORPHA:94124 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly, Leukocytosis, Dil... |
OMIM:615895 |
| Retinitis Pigmentosa 50 |
|
Retinal detachment, Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Attenuation of retinal... |
OMIM:613194 |
| Citrullinemia Type Ii |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia... |
ORPHA:247585 |
| Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Hypopigmentation of hair, Partial albinism, Neutropenia |
ORPHA:90023 |
| Albinism, Oculocutaneous, Type Ii |
|
Hypoplasia of the fovea, Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue ... |
OMIM:203200 |
| Congenital Analbuminemia |
|
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia |
ORPHA:86816 |
| Ceroid Lipofuscinosis, Neuronal, 11 |
|
Optic atrophy, Retinal dystrophy |
OMIM:614706 |
| Nephrotic Syndrome, Type 22 |
|
Hypoproteinemia |
OMIM:619155 |
| Refractory Anemia With Excess Blasts |
|
Acute myeloid leukemia, Abnormal circulating protein concentration, Anemia of inadequate producti... |
ORPHA:86839 |
| Macrophage Activation Syndrome |
|
Hepatomegaly, Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Spleno... |
ORPHA:158061 |
| Spastic Paraplegia 74, Autosomal Recessive |
|
Peripheral axonal neuropathy, Optic atrophy |
OMIM:616451 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hypoproteinemia, Hepatomegaly, Ventricular septal defect, Elevated circulating creatine kinase co... |
ORPHA:26793 |
| Retinitis Pigmentosa 73 |
|
Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge... |
OMIM:616544 |
| Familial Drusen |
|
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... |
ORPHA:75376 |
| Irvan Syndrome |
|
Retinal detachment, Vitreous floaters, Optic atrophy, Macular edema, Retinal exudate, Tractional ... |
ORPHA:209943 |
| Retinitis Pigmentosa 88 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular... |
OMIM:618826 |
| Intracranial Hypertension, Idiopathic |
|
Papilledema |
OMIM:243200 |
| Retinitis Pigmentosa 28 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:606068 |
| Retinitis Pigmentosa 38 |
|
Optic disc pallor, Peripheral retinal atrophy, Macular atrophy, Rod-cone dystrophy |
OMIM:613862 |
| Retinitis Pigmentosa 76 |
|
Bone spicule pigmentation of the retina, Retinal thinning, Hyperautofluorescent macular lesion, P... |
OMIM:617123 |
| Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Anisocytosis, Decreased s... |
OMIM:616959 |
| Chylomicron Retention Disease |
|
Hypotriglyceridemia, Hypoalbuminemia, Decreased LDL cholesterol concentration, Hypocholesterolemia |
OMIM:246700 |
| Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Microcytic anemia, Hypertriglyceridemia, Hypoalbuminemia, Hepatosplenomegaly |
OMIM:619013 |
| White Forelock With Malformations |
|
Atrial septal defect, White forelock, Poliosis |
OMIM:277740 |
| Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Abnormal retinal morphology, Albinism |
ORPHA:2786 |
| Retinitis Pigmentosa 19 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... |
OMIM:601718 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy... |
ORPHA:103910 |
| Retinitis Pigmentosa 63 |
|
Optic disc pallor, Rod-cone dystrophy |
OMIM:614494 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Peripheral axonal degeneration, Elevated circulating creatine kinase concentration, Decreased num... |
OMIM:208920 |
| Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El... |
ORPHA:232 |
| Night Blindness, Congenital Stationary, Type 1G |
|
Congenital stationary night blindness, Optic disc pallor, Rod-cone dystrophy |
OMIM:616389 |
| Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:1574 |
| Microphthalmia, Isolated 5 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, F... |
OMIM:611040 |
| Griscelli Syndrome Type 1 |
|
Partial albinism, Hyperlipidemia, White hair, Premature graying of hair, Retinopathy, Iris hypopi... |
ORPHA:79476 |
| Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Alopecia, Decreased circulating ceruloplasmin concentration, Decreased circulating copper concent... |
OMIM:242150 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hepatomegaly, Ventricular septal defect, Splenomegaly, Hypocalcemia, Hypoproteinemia, Hypertrichosis |
OMIM:235255 |
| Central Retinal Vein Occlusion |
|
Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P... |
ORPHA:411527 |
| Waardenburg Syndrome, Type 2F |
|
Hypermelanotic macule, White hair, Blue irides, Premature graying of hair, White forelock, Cafe-a... |
OMIM:619947 |
| Ceroid Lipofuscinosis, Neuronal, 7 |
|
Retinopathy, Pigmentary retinopathy, Optic atrophy |
OMIM:610951 |
| Congenital Lethal Erythroderma |
|
Hypoalbuminemia |
ORPHA:1954 |
| Cone-Rod Dystrophy 17 |
|
Cone/cone-rod dystrophy, Optic disc pallor |
OMIM:615163 |
| Usher Syndrome, Type Iiib |
|
Optic disc pallor, Bull's eye maculopathy, Attenuation of retinal blood vessels |
OMIM:614504 |
| Alg1-Cdg |
|
Cardiomyopathy, Hypoalbuminemia, Abnormal heart morphology |
ORPHA:79327 |
| Uncombable Hair Syndrome |
|
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair |
ORPHA:1410 |
| Amaurosis-Hypertrichosis Syndrome |
|
Cone/cone-rod dystrophy, Retinal dystrophy, Abnormal eyelash morphology, Synophrys, Optic atrophy... |
ORPHA:1021 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch... |
OMIM:251270 |
| Fibronectin Glomerulopathy |
|
Hypoalbuminemia |
ORPHA:84090 |
| Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:2246 |
| Retinitis Pigmentosa 26 |
|
Optic disc pallor, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:608380 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatomegaly, Ventricular septal defect, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hypoprot... |
ORPHA:1655 |
| Waardenburg-Shah Syndrome |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Abnormal eyebrow morphology, Agang... |
ORPHA:897 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Decreased number of large peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axona... |
OMIM:617087 |
| Pancreatic insufficiency, combined exocrine |
|
Hypoproteinemia |
OMIM:260450 |
| Retinitis Pigmentosa 79 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin... |
OMIM:617460 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Splenomegaly, Reduced red cell py... |
ORPHA:766 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Hepatomegaly, Elevated circulating creatinine concentration, Anemia, Perimembranous ventricular s... |
OMIM:608104 |
| Optic Atrophy 12 |
|
Optic disc pallor, Optic atrophy |
OMIM:618977 |
| Galloway-Mowat Syndrome 8 |
|
Hypoalbuminemia |
OMIM:618349 |
| Familial Exudative Vitreoretinopathy |
|
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... |
ORPHA:891 |
| Ceroid Lipofuscinosis, Neuronal, 3 |
|
Vacuolated lymphocytes, Optic atrophy, Concentric hypertrophic cardiomyopathy, Macular degenerati... |
OMIM:204200 |
| Congenital Enterovirus Infection |
|
Abnormal macrophage morphology, Pericardial effusion, Myocarditis, Leukocytosis, Thrombocytopenia... |
ORPHA:292 |
| Eosinophilic Gastroenteritis |
|
Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hypoalbuminemi... |
ORPHA:2070 |
| Nephrotic Syndrome, Type 3 |
|
Hypoalbuminemia |
OMIM:610725 |
| Oculocutaneous Albinism Type 4 |
|
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... |
ORPHA:79435 |
| Retinal Dystrophy And Obesity |
|
Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Retinal dots, Peripapi... |
OMIM:616188 |
| Albinism, Oculocutaneous, Type Vi |
|
Hypoplasia of the fovea, Generalized hypopigmentation, Fair hair |
OMIM:113750 |
| Yemenite Deaf-Blind Hypopigmentation Syndrome |
|
White forelock, Numerous pigmented freckles, Patchy hypo- and hyperpigmentation, Chorioretinal co... |
OMIM:601706 |
| Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilir... |
OMIM:618528 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... |
OMIM:619041 |
| Oculocutaneous Albinism Type 3 |
|
White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Optic nerve mis... |
ORPHA:79433 |
| Griscelli Syndrome Type 3 |
|
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation |
ORPHA:79478 |
| Retinitis Pigmentosa 13 |
|
Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce... |
OMIM:600059 |
| Nephrotic Syndrome, Type 6 |
|
Hypoalbuminemia |
OMIM:614196 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Hepatomegaly, Abnorm... |
ORPHA:247598 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Optic disc pallor, Cardiomegaly, Hyperprolinemia, Perimembranous ventricular septal defect, Hyper... |
OMIM:619170 |
| Waardenburg Syndrome, Type 4B |
|
White eyelashes, Aganglionic megacolon, White eyebrow, Blue irides, Hypopigmented skin patches, P... |
OMIM:613265 |
| Congenital Disorder Of Glycosylation, Type Ij |
|
Hypoproteinemia |
OMIM:608093 |
| Leber Congenital Amaurosis 9 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macular scar, Macul... |
OMIM:608553 |
| Waardenburg Syndrome, Type 2B |
|
Premature graying of hair, White forelock, Heterochromia iridis |
OMIM:600193 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
| S-Adenosylhomocysteine Hydrolase Deficiency |
|
Elevated circulating creatine kinase concentration, Abnormal circulating homocysteine concentrati... |
ORPHA:88618 |
| Leber Congenital Amaurosis 4 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Macular atrophy, Attenuation of retinal blood vessels |
OMIM:604393 |
| Spinocerebellar Ataxia, Autosomal Recessive 29 |
|
Retinal pigment epithelial mottling, Peripheral axonal neuropathy, Optic disc pallor |
OMIM:619389 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, Increased serum... |
ORPHA:98870 |
| Retinitis Pigmentosa 86 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... |
OMIM:618613 |
| Spastic Paraplegia, Optic Atrophy, And Dementia |
|
Optic disc pallor, Optic atrophy |
OMIM:182830 |
| Aicardi-Goutieres Syndrome 9 |
|
Hepatomegaly, Pericarditis, Hemolytic anemia, Pericardial effusion, Optic atrophy, Chorioretinal ... |
OMIM:619487 |
| Hepatoportal Sclerosis |
|
Hypersplenism, Splenomegaly, Thrombocytopenia, Leukopenia, Hypoalbuminemia, Hyperbilirubinemia, A... |
ORPHA:64743 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Splenomegaly, Thrombocytopenia, Increased circu... |
ORPHA:158048 |
| Congenital Disorder Of Glycosylation, Type Iaa |
|
Optic disc pallor, Hypertrichosis, Attenuation of retinal blood vessels |
OMIM:617082 |
| Trichohepatoenteric Syndrome 1 |
|
Hepatomegaly, Curly hair, Brittle hair, Ventricular septal defect, Thrombocytosis, Increased mean... |
OMIM:222470 |
| Al Amyloidosis |
|
Hepatomegaly, Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Abnormal cardia... |
ORPHA:85443 |
| Griscelli Syndrome Type 2 |
|
Hepatomegaly, Hypopigmentation of hair, Pancytopenia, Partial albinism, Splenomegaly, Hyperlipide... |
ORPHA:79477 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Cone/cone-rod dystrophy, Sideroblastic anemia, Ventricular septal defect, Situs inversus totalis,... |
OMIM:249270 |
| Wolcott-Rallison Syndrome |
|
Hyponatremia, Hepatomegaly, Hyperammonemia, Iron deficiency anemia, Hypoalbuminemia, Lymphocytosi... |
ORPHA:1667 |
| Galloway-Mowat Syndrome 6 |
|
Hypoalbuminemia |
OMIM:618347 |
| Retinitis Pigmentosa 1 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... |
OMIM:180100 |
| Overhydrated Hereditary Stomatocytosis |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Stomatocytosis, Increased mean cor... |
OMIM:185000 |
| Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome |
|
Optic atrophy |
ORPHA:2773 |
| Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Optic atrophy, Retinal degeneration |
OMIM:614322 |
| Familial Pseudohyperkalemia |
|
Reticulocytosis, Hyperkalemia, Stomatocytosis, Increased mean corpuscular volume, Episodic hemoly... |
ORPHA:90044 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, A... |
ORPHA:540 |
| Chronic Bilirubin Encephalopathy |
|
Hemolytic anemia, Abnormal auditory evoked potentials, Hypoalbuminemia, Hypernatremia, Neonatal h... |
ORPHA:529808 |
| Acute Bilirubin Encephalopathy |
|
Hemolytic anemia, Abnormal auditory evoked potentials, Hypoalbuminemia, Hypernatremia, Neonatal h... |
ORPHA:529799 |
| Ataxia-Oculomotor Apraxia 4 |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration |
OMIM:616267 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Abnormality of retinal pigmentation, Thick hair, Thrombocytopenia, Optic atrophy, Hepatosplenomeg... |
ORPHA:505248 |
| Nephrotic Syndrome, Type 11 |
|
Hypercholesterolemia, Dilated cardiomyopathy, Ventricular septal defect, Hypoalbuminemia |
OMIM:616730 |
| Waardenburg Syndrome Type 2 |
|
Hypopigmentation of hair, Aganglionic megacolon, Hypopigmented skin patches, Premature graying of... |
ORPHA:895 |
| Abetalipoproteinemia |
|
Hepatomegaly, Abnormality of retinal pigmentation, Reticulocytosis, Decreased HDL cholesterol con... |
ORPHA:14 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Optic disc pallor, Hepatomegaly, Reticulocytosis, Facial palsy, Splenomegaly, Optic atrophy, Anem... |
OMIM:611490 |
| Optic Atrophy 6 |
|
Optic atrophy |
OMIM:258500 |
| Leber Congenital Amaurosis 2 |
|
Optic disc pallor, Fundus atrophy, Absent foveal reflex, Pigmentary retinopathy, Attenuation of r... |
OMIM:204100 |
| Macular Dystrophy With Central Cone Involvement |
|
Macular dystrophy, Optic disc pallor, Perifoveal ring of hyperautofluorescence, Bull's eye maculo... |
OMIM:616170 |
| Pierson Syndrome |
|
Retinal detachment, Remnants of the hyaloid vascular system, Retinal hemorrhage, Macular hypoplas... |
OMIM:609049 |
| Oculocutaneous Albinism Type 1 |
|
Hypoplasia of the fovea, White eyelashes, White eyebrow, Blue irides, Depigmented fundus, Iris tr... |
ORPHA:352731 |
| Vogt-Koyanagi-Harada Disease |
|
Retinal detachment, Sparse scalp hair, Abnormal eyebrow morphology, Poliosis, Abnormal eyelash mo... |
ORPHA:3437 |
| Cone-Rod Dystrophy, X-Linked, 3 |
|
Cone/cone-rod dystrophy, Retinal detachment, Optic disc pallor, Absent foveal reflex, Abnormality... |
OMIM:300476 |
| Spondylometaphyseal Dysplasia, Axial |
|
Cone/cone-rod dystrophy, Splenomegaly, Optic atrophy, Rod-cone dystrophy, Retinal degeneration |
OMIM:602271 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Hepatomegaly, Facial palsy, Splenomegaly, Thrombocytopenia, Optic atrophy, Anemia |
OMIM:615085 |
| Combined Oxidative Phosphorylation Deficiency 37 |
|
Chorioretinal hyperpigmentation, Optic atrophy, Hypoalbuminemia, Hyperalaninemia, Hypertrophic ca... |
OMIM:618329 |
| Hypotrichosis 8 |
|
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... |
OMIM:278150 |
| Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities |
|
Optic disc pallor, Retinal dystrophy |
OMIM:616079 |
| Mpi-Cdg |
|
Hepatomegaly, Hypoalbuminemia |
ORPHA:79319 |
| Reni Syndrome |
|
Lymphopenia, Hypoalbuminemia, Hyperpigmentation of the skin, Hypertriglyceridemia |
OMIM:617575 |
| Piebald Trait-Neurologic Defects Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Aganglionic megacolon, Abnormal eyelash mo... |
ORPHA:2885 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3 |
|
Optic atrophy, Elevated circulating creatine kinase concentration |
OMIM:613151 |
| Thrombocytopenia 5 |
|
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... |
OMIM:616216 |
| Retinitis Pigmentosa 12 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... |
OMIM:600105 |
| Retinitis Pigmentosa 78 |
|
Optic disc pallor, Cystoid macular edema |
OMIM:617433 |
| Infantile-Onset Spinocerebellar Ataxia |
|
Abnormality of the autonomic nervous system, Optic atrophy |
ORPHA:1186 |
| Retinitis Pigmentosa 10 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at... |
OMIM:180105 |
| Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Hepatomegaly, Dilated cardiomyopathy, Hepatosplenomegaly, Abnormal cardiomyocyte morphology, Hypo... |
ORPHA:367 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevat... |
ORPHA:64753 |
| Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease |
|
Papilledema, Retinal arteriolar constriction |
OMIM:124950 |
| Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 |
|
Rod-cone dystrophy, Optic atrophy, Onion bulb formation, Segmental peripheral demyelination/remye... |
OMIM:311070 |
| Sarcosinemia |
|
Hypertrophic cardiomyopathy, Hypersarcosinemia, Optic atrophy, Pulmonic stenosis |
ORPHA:3129 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Abnormal circulating selenium concentration, Decreased serum iron, Dilated cardiomyopathy, Decrea... |
ORPHA:89842 |
| Generalized Pustular Psoriasis |
|
Hyponatremia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hypoalbuminemi... |
ORPHA:247353 |
| Ermine Phenotype |
|
White eyelashes, White eyebrow, Albinism, White hair, Spotty hyperpigmentation, Vitiligo |
OMIM:227010 |
| Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Sparse eyelashes |
OMIM:300946 |
| Waardenburg Syndrome, Type 2A |
|
White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Premature graying of hair,... |
OMIM:193510 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Hepatomegaly, Macrocytic anemia, Thrombocytopenia, Optic atrophy, Hyperammonemia, Leukopenia, Car... |
ORPHA:27 |
| Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Hypopigmentation of hair, Generalized hyperpigmentation |
ORPHA:1355 |
| Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Macrocytic anemia, Ventricular septal defect, Mitral valve prolapse, Per... |
OMIM:612561 |
| Retinitis Pigmentosa 41 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti... |
OMIM:612095 |
| Liver Disease, Severe Congenital |
|
Dry hair, Cardiomegaly, Leukopenia, Lymphocytosis, Hypocalcemia, Elevated hepatic iron concentrat... |
OMIM:619991 |
| Amoebiasis Due To Entamoeba Histolytica |
|
Abnormal pericardium morphology, Leukocytosis, Hypoalbuminemia, Constrictive pericarditis, Anemia |
ORPHA:67 |
| Oculocutaneous Albinism Type 2 |
|
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, White eye... |
ORPHA:79432 |
| Cone-Rod Dystrophy 3 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bull's eye maculopathy, Pigmentary retinopathy, Atten... |
OMIM:604116 |
| Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Optic disc pallor, Retinal thinning |
OMIM:618970 |
| Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
| Retinitis Pigmentosa 58 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... |
OMIM:613617 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hepatomegaly, Splenomegaly, Thrombocytopenia, Optic atrophy, Hyperammonemia, Cardiomyopathy, Neut... |
ORPHA:79312 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Multiple muscular ventricular septal defects, Hypoalbuminemia, Pulmonic stenosis, Sparse hair, Hy... |
OMIM:615508 |
| Woods Syndrome |
|
Ventricular septal defect, Supernumerary nipple, Optic atrophy, Broad nail, Hypoplastic fifth toe... |
OMIM:615236 |
| Oculocutaneous Albinism Type 1B |
|
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... |
ORPHA:79434 |
| Abetalipoproteinemia |
|
Abetalipoproteinemia, Acanthocytosis, Retinopathy, Peripheral demyelination, Retinal degeneration |
OMIM:200100 |
| Eales Disease |
|
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti... |
ORPHA:40923 |
| Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Peripapillary a... |
OMIM:618195 |
| Wolfram Syndrome, Mitochondrial Form |
|
Sideroblastic anemia, Megaloblastic anemia, Optic atrophy, Abnormal autonomic nervous system phys... |
OMIM:598500 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Retinal dystrophy, Megaloblastic anemia, Optic atrophy, Atrial septal ... |
ORPHA:49827 |
| Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias |
OMIM:620044 |
| Diamond-Blackfan Anemia 8 |
|
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia |
OMIM:612563 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Alopecia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hypomagnesemia,... |
ORPHA:37042 |
| Avian Influenza |
|
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... |
ORPHA:454836 |
| Liver Failure, Infantile, Transient |
|
Hepatomegaly, Hypoalbuminemia, Hyperbilirubinemia |
OMIM:613070 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Hepatomegaly, Optic atrophy, Hyperammonemia, Anemia, Neutropenia, Thrombocytopenia |
ORPHA:289916 |
| Nephrotic Syndrome, Type 8 |
|
Hypoalbuminemia |
OMIM:615244 |
| Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome |
|
Abnormal leukocyte morphology, Retrobulbar optic neuritis, Optic atrophy |
ORPHA:3151 |
| Retinitis Pigmentosa 46 |
|
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels |
OMIM:612572 |
| Cinca Syndrome |
|
Papilledema, Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, H... |
OMIM:607115 |
| Alg12-Cdg |
|
Hyponatremia, Retinal detachment, Muscular ventricular septal defect, Low posterior hairline, Abn... |
ORPHA:79324 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid... |
ORPHA:567548 |
| Leber Congenital Amaurosis 14 |
|
Optic disc pallor, Rod-cone dystrophy, Retinal dystrophy |
OMIM:613341 |
| Glaucoma 1, Open Angle, F |
|
Increased cup-to-disc ratio |
OMIM:603383 |
| Gaisböck Syndrome |
|
Hypertriglyceridemia, Splenomegaly, Increased mean corpuscular hemoglobin concentration, Hyperpro... |
ORPHA:90041 |
| Waardenburg Syndrome, Type 4A |
|
White eyelashes, Aganglionic megacolon, White eyebrow, Blue irides, Hypopigmented skin patches, P... |
OMIM:277580 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Splenomegaly, Hypoalbuminemia... |
OMIM:251880 |
| Optic Atrophy 5 |
|
Optic disc pallor, Optic atrophy |
OMIM:610708 |
| Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Optic disc pallor, Hypertrophic cardiomyopathy, Optic atrophy |
OMIM:612989 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Alopecia, Onychogryposis, Depigmentation/hyperpigmentation of skin, Generalized reticulate brown ... |
ORPHA:79396 |
| Retinitis Pigmentosa 49 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... |
OMIM:613756 |
| Cone-Rod Dystrophy 20 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina |
OMIM:615973 |
| Hsd10 Mitochondrial Disease |
|
Elevated circulating tiglylglycine concentration, Hypertrophic cardiomyopathy, Optic atrophy, Ret... |
OMIM:300438 |
| Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Hypoalbuminemia |
OMIM:602579 |
| Elejalde Neuroectodermal Melanolysosomal Syndrome |
|
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... |
OMIM:256710 |
| Retinitis Pigmentosa 25 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Rod-cone dystr... |
OMIM:602772 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Hepatomegaly, Pericarditis, Pericardial effusion, Cardiomyopathy, Hypoalbuminemia, Hypocholestero... |
OMIM:212065 |
| Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Alopecia, Hypopigmentation of hair, Abnormal heart morphology |
ORPHA:1067 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Papilledema, Ventricular septal defect, Alopecia totalis, Elevated circulating creatine kinase co... |
OMIM:618775 |
| Glaucoma 3, Primary Congenital, E |
|
Increased cup-to-disc ratio |
OMIM:617272 |
| Woolly Hair Nevus |
|
Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o... |
ORPHA:79414 |
| Autosomal Recessive Progressive External Ophthalmoplegia |
|
Abnormal retinal morphology, Facial palsy, Elevated circulating creatine kinase concentration, Op... |
ORPHA:254886 |
| Squalene Synthase Deficiency |
|
Bicuspid aortic valve, Optic nerve hypoplasia, Increased circulating farnesol concentration, Abno... |
OMIM:618156 |
| Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 |
|
Hypoalbuminemia |
OMIM:614441 |
| Retinitis Pigmentosa 56 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... |
OMIM:613581 |
| Spinocerebellar Ataxia 7 |
|
Macular degeneration, Optic atrophy, Pigmentary retinopathy |
OMIM:164500 |
| Attrv122I Amyloidosis |
|
Increased circulating NT-proBNP concentration, Restrictive cardiomyopathy, Cardiomegaly, Hypertro... |
ORPHA:85451 |
| Xfe Progeroid Syndrome |
|
Optic atrophy, Hypoalbuminemia, Attenuation of retinal blood vessels |
OMIM:610965 |
| X-Linked Spinocerebellar Ataxia Type 3 |
|
Optic atrophy |
ORPHA:85297 |
| Genetic Steroid-Resistant Nephrotic Syndrome |
|
Hypoalbuminemia |
ORPHA:656 |
| Optic Atrophy 8 |
|
Optic atrophy, Prolonged somatosensory evoked potentials, Abnormal auditory evoked potentials, Mi... |
OMIM:616648 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Ridged nail, Alopecia, Aplastic anemia, Thrombocytopenia, Nail pits, Reticular hyperpigmentation,... |
OMIM:127550 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Cardiomegaly, Pericardial effusion, Optic atrophy, Hyperammonemia, Hyperalaninemia, Hypertrophic ... |
OMIM:614702 |
| Juvenile Polyposis Syndrome |
|
Hypokalemia, Hypoalbuminemia, Anemia |
OMIM:174900 |
| Mitochondrial Complex I Deficiency, Nuclear Type 14 |
|
Biventricular hypertrophy, Hypertrophic cardiomyopathy, Optic atrophy |
OMIM:618236 |
| Piebaldism |
|
Hypopigmentation of hair, White eyelashes, Aganglionic megacolon, White eyebrow, Synophrys, Pieba... |
ORPHA:2884 |
| Waardenburg Syndrome Type 1 |
|
Hypopigmentation of hair, White eyelashes, Aganglionic megacolon, White eyebrow, Abnormal hair mo... |
ORPHA:894 |
| Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia |
OMIM:618849 |
| Jalili Syndrome |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro... |
OMIM:217080 |
| Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Retinal dystrophy, Aplastic anemia, Thrombocytopenia, Neutr... |
OMIM:617052 |
| Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Hepatomegaly, Hypopigmentation of hair, Abnormal dense... |
OMIM:214500 |
| Retinitis Pigmentosa 72 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Peripapillary atrophy, Rod-cone dystr... |
OMIM:616469 |
| Trichothiodystrophy 4, Nonphotosensitive |
|
Brittle hair, Ventricular septal defect, Sparse eyelashes, Concave nail, Abnormality of hair text... |
OMIM:234050 |
| Bacterial Toxic-Shock Syndrome |
|
Elevated circulating creatine kinase concentration, Myocarditis, Elevated circulating creatinine ... |
ORPHA:36234 |
| Griscelli Syndrome |
|
Hepatomegaly, Abnormal eyebrow morphology, Abnormality of neutrophils, Abnormal eyelash morpholog... |
ORPHA:381 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Elevated circulating creatine kinase concentration, Anemia, Cardiomegaly |
OMIM:618838 |
| Retinitis Pigmentosa 43 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Rod-cone dyst... |
OMIM:613810 |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Hepatomegaly, Pancytopenia, Megaloblastic anemia, Increased mean corpuscular volume, Thrombocytop... |
OMIM:613839 |
| Wilson Disease |
|
Hepatomegaly, Hemolytic anemia, Decreased circulating ceruloplasmin concentration, Hypouricemia, ... |
OMIM:277900 |
| Hermansky-Pudlak Syndrome 3 |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Abnormal number of dense granules, Albinism |
OMIM:614072 |
| Spastic Paraplegia 79A, Autosomal Dominant, With Ataxia |
|
Peripheral axonal neuropathy, Optic atrophy |
OMIM:620221 |
| Joubert Syndrome 28 |
|
Optic disc pallor, Pigmentary retinopathy, Highly arched eyebrow |
OMIM:617121 |
| Oculocutaneous Albinism Type 1A |
|
Hypoplasia of the fovea, Hypopigmentation of hair, Albinism, Ocular albinism, Abnormal optic nerv... |
ORPHA:79431 |
| Juvenile Paget Disease |
|
Abnormality of retinal pigmentation, Optic atrophy, Hyperuricemia, Melanocytic nevus |
ORPHA:2801 |
| Insulin-Resistance Syndrome Type B |
|
Alopecia, Enlarged ovaries, Abnormal circulating lipid concentration, Enlarged polycystic ovaries... |
ORPHA:2298 |
| Srd5A3-Cdg |
|
Optic disc hypoplasia, Microcytic anemia, Abnormal hair morphology, Optic atrophy, Spotty hyperpi... |
ORPHA:324737 |
| Multiple Myeloma |
|
Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Hyperproteinemia, Anemia |
ORPHA:29073 |
| Morning Glory Disc Anomaly |
|
Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation |
ORPHA:35737 |
| Proximal Myopathy With Extrapyramidal Signs |
|
Cardiomyopathy, Peripheral axonal neuropathy, Optic atrophy, Mildly elevated creatine kinase |
ORPHA:401768 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Pericardial lymphangiectasia, Ventricular septal defect, Pericardial effusion, Hypoalbuminemia, A... |
OMIM:235510 |
| Retinitis Pigmentosa 60 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... |
OMIM:613983 |
| Galloway-Mowat Syndrome 1 |
|
Hypopigmentation of the skin, Optic atrophy, Hypoalbuminemia, Small nail |
OMIM:251300 |
| Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Ventricular hypertrophy, Optic disc pallor, Highly arched eyebrow, Nail dystrophy, Atrial septal ... |
OMIM:300887 |
| Leptospirosis |
|
Papilledema, Hepatomegaly, Pericarditis, Retinal hemorrhage, Chorioretinitis, Hyperproteinemia, O... |
ORPHA:509 |
| Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Conjugated hyperbilirubinemia, Decreased serum zinc, Hypoalbuminemia, Hyperammonemia |
OMIM:617093 |
| Retinitis Pigmentosa 14 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal arteriolar constriction, Rod-... |
OMIM:600132 |
| Severe Early-Childhood-Onset Retinal Dystrophy |
|
Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A... |
ORPHA:364055 |
| Osteopetrosis, Autosomal Recessive 9 |
|
Papilledema, Elevated circulating creatinine concentration, Hyperkalemia, Anemia |
OMIM:620366 |
| Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Normochromic anemia, Hypoalbuminemia, Thrombocytopenia |
OMIM:254900 |
| Leber Congenital Amaurosis |
|
Abnormality of retinal pigmentation, Abnormal optic disc morphology |
ORPHA:65 |
| Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Absent brainstem auditory responses, Optic atrophy, Cardiomyopathy, Abnormal retinal nerve fiber ... |
ORPHA:1215 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Pericardial effusion, Hypoalbuminemia, Hypocalcemia, Hypomagn... |
OMIM:618183 |
| Primary Biliary Cholangitis |
|
Orthostatic hypotension, Conjugated hyperbilirubinemia, Hypoalbuminemia, Abnormal circulating lip... |
ORPHA:186 |
| Coloboma Of Optic Nerve |
|
Retinal detachment, Optic disc coloboma |
OMIM:120430 |
| Infantile Refsum Disease |
|
Hepatomegaly, Facial palsy, Optic atrophy, Elevated circulating phytanic acid concentration, Card... |
ORPHA:772 |
| Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Retinal detachment, Optic atrophy, Chorioretinal coloboma |
ORPHA:1473 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated cardiomyo... |
OMIM:600649 |
| Late-Onset Retinal Degeneration |
|
Multifocal subretinal deposits, Choroidal neovascularization, Macular atrophy, Drusen, Patchy atr... |
ORPHA:67042 |
| Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Situs inversus totalis, Optic disc pallor, Rod-cone dystrophy, Macular atrophy |
OMIM:615434 |
| Zika Virus Disease |
|
Optic disc hypoplasia, Macular atrophy, Retinal pigment epithelial mottling, Chorioretinal atroph... |
ORPHA:448237 |
| Combined Hamartoma Of The Retina And Retinal Pigment Epithelium |
|
Retinal vascular tortuosity, Abnormal optic disc morphology, Vitreoretinopathy |
ORPHA:440727 |
| 16Q24.3 Microdeletion Syndrome |
|
Ventricular septal defect, Optic nerve hypoplasia, Abnormal hair pattern, Highly arched eyebrow, ... |
ORPHA:261250 |
| Juvenile Polyposis Of Infancy |
|
Refractory anemia, Abnormal heart morphology, Hypoalbuminemia, Atrial septal defect, Anemia |
ORPHA:79076 |
| Piebald Trait |
|
Absent pigmentation of the ventral chest, Aganglionic megacolon, Partial albinism, Piebaldism, Wh... |
OMIM:172800 |
| Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, Increased m... |
OMIM:277410 |
| Cinca Syndrome |
|
Hepatomegaly, Abnormality of neutrophils, Elevated circulating C-reactive protein concentration, ... |
ORPHA:1451 |
| Methylcobalamin Deficiency Type Cble |
|
Hypomethioninemia, Macrocytic anemia, Pancytopenia, Hyperhomocystinemia, Increased mean corpuscul... |
ORPHA:2169 |
| Wildervanck Syndrome |
|
Pseudopapilledema, Facial palsy, Low posterior hairline |
ORPHA:3456 |
| Carney Complex, Type 1 |
|
Cardiac myxoma, Schwannoma, Pheochromocytoma, Multiple lentigines, Red hair, Freckling, Profuse p... |
OMIM:160980 |
| Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities |
|
Retinal arteriolar constriction, Optic atrophy |
OMIM:249660 |
| Incontinentia Pigmenti |
|
Ridged nail, Abnormality of skin pigmentation, Coarse hair, Sparse hair, Atrophic, patchy alopeci... |
OMIM:308300 |
| Oslam Syndrome |
|
Increased mean corpuscular volume, Abnormality of neutrophils |
ORPHA:2760 |
| X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
Optic disc pallor, Retinal dystrophy, Macular coloboma, Elevated amniotic fluid alpha-fetoprotein... |
ORPHA:423479 |
| Null Syndrome |
|
Decreased nerve conduction velocity, Optic atrophy, Peripheral demyelination, Abnormality of peri... |
ORPHA:280234 |
| Retinitis Pigmentosa 66 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:615233 |
| Hermansky-Pudlak Syndrome 11 |
|
Hypoplasia of the fovea, Albinism, Ocular albinism, Melanocytic nevus, Reduced platelet dense gra... |
OMIM:619172 |
| Secondary Intestinal Lymphangiectasia |
|
Decreased prealbumin level, Reduced circulating transferrin concentration, Hypoalbuminemia, Hypoc... |
ORPHA:90363 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypertyrosinemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypermethioninemia, Hyperbiliru... |
OMIM:617156 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Hypoalbuminemia, Elevated circulating creatine kinase concentration |
OMIM:619055 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Cranial nerve compression, Optic at... |
OMIM:259710 |
| Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:177910 |
| Albinism, Oculocutaneous, Type Ia |
|
Hypoplasia of the fovea, Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair... |
OMIM:203100 |
| Jalili Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:1873 |
| Posterior Column Ataxia With Retinitis Pigmentosa |
|
Bone spicule pigmentation of the retina, Decreased sensory nerve conduction velocity, Optic atrop... |
OMIM:609033 |
| Wolfram Syndrome 1 |
|
Sideroblastic anemia, Megaloblastic anemia, Optic atrophy, Pigmentary retinopathy, Cardiomyopathy... |
OMIM:222300 |
| Obesity And Hypopigmentation |
|
Red hair |
OMIM:620195 |
| Maternal Uniparental Disomy Of Chromosome 4 |
|
Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Acanthocytosis, Abnorma... |
ORPHA:96180 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Hepatomegaly, Pancytopenia, Facial palsy, Splenomegaly, Thrombocytopenia, Optic atrophy, Hypocalc... |
OMIM:259700 |
| Sickle Cell Disease |
|
Hepatomegaly, Hemolytic anemia, Cardiomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Tar... |
OMIM:603903 |
| 3-Methylglutaconic Aciduria, Type V |
|
Noncompaction cardiomyopathy, Dilated cardiomyopathy, Optic atrophy, Normochromic microcytic anem... |
OMIM:610198 |
| Shwachman-Diamond Syndrome |
|
Normocytic anemia, Hepatomegaly, Macrocytic anemia, Transient neutropenia, Aplastic anemia, Acute... |
ORPHA:811 |
| Juvenile Glaucoma |
|
Optic neuropathy, Retinal arterial occlusion, Retinal vein occlusion, Abnormal optic nerve morpho... |
ORPHA:98977 |
| Marburg Hemorrhagic Fever |
|
Lymphopenia, Pericarditis, Reticulocytosis, Elevated circulating creatine kinase concentration, H... |
ORPHA:99826 |
| Ermine Phenotype |
|
Hypopigmentation of hair, Ocular albinism, Hypopigmented skin patches, Irregular hyperpigmentatio... |
ORPHA:999 |
| Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
| Hoyeraal-Hreidarsson Syndrome |
|
Abnormal leukocyte morphology, Sparse scalp hair, Generalized hyperpigmentation, Thrombocytopenia... |
ORPHA:3322 |
| Opticocochleodentate Degeneration |
|
Optic atrophy |
OMIM:258700 |
| Ataxia-Telangiectasia |
|
Premature graying of hair, Hypopigmentation of hair, Lymphopenia, Multiple cafe-au-lait spots |
ORPHA:100 |
| Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Hypertrophic cardiomyopathy, Hypopigmentation of hair, Abnormal heart morphology |
ORPHA:70472 |
| Galloway-Mowat Syndrome 3 |
|
Hypoalbuminemia |
OMIM:617729 |
| Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Hepatomegaly, Hypopigmentation of hair, Splenomegaly, Cafe-au-lait spot, Hypopigmentation of the ... |
OMIM:618541 |
| Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Fine hair, Onycholysis, Nail dystrophy, Hypo... |
OMIM:614748 |
| Hermansky-Pudlak Syndrome 1 |
|
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Ocular albinism, Melanocytic n... |
OMIM:203300 |
| Mevalonic Aciduria |
|
Optic disc pallor, Normocytic hypoplastic anemia, Elevated circulating creatine kinase concentrat... |
OMIM:610377 |
| Acquired Hypertrichosis Lanuginosa |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Generalized hirsutism, Fine hair |
ORPHA:2221 |
| Syndromic Diarrhea |
|
Hepatomegaly, Hypopigmentation of hair, Brittle hair, Bicuspid aortic valve, Ventricular septal d... |
ORPHA:84064 |
| Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Ventricular septal defect, Pure red cell aplasia, Erythroid hypoplasia, L... |
ORPHA:124 |
| Diamond-Blackfan Anemia 7 |
|
Macrocytic anemia, Ventricular septal defect, Secundum atrial septal defect, Increased mean corpu... |
OMIM:612562 |
| Multiple Sulfatase Deficiency |
|
Abnormality of retinal pigmentation, Hepatomegaly, Thick eyebrow, Splenomegaly, Optic atrophy, Co... |
ORPHA:585 |
| Mogs-Cdg |
|
Absent brainstem auditory responses, Hepatomegaly, Alopecia, Fair hair, Cardiomegaly, Thrombocyto... |
ORPHA:79330 |
| Leber Optic Atrophy |
|
Central retinal vessel vascular tortuosity, Optic atrophy, Leber optic atrophy, Optic neuropathy |
OMIM:535000 |
| Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:411515 |
| Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Microcytic anemia, Optic atroph... |
OMIM:251900 |
| Vici Syndrome |
|
Lymphopenia, Hypopigmentation of hair, Macular atrophy, Elevated circulating creatine kinase conc... |
OMIM:242840 |
| Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Hyperlipidemia, Hypoalbuminemia |
ORPHA:567546 |
| Obesity Due To Prohormone Convertase I Deficiency |
|
Red hair, Hypopigmentation of the skin |
ORPHA:71528 |
| Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Red hair, Hypopigmentation of the skin |
ORPHA:71526 |
| Primary Sclerosing Cholangitis |
|
Hepatomegaly, Abnormal eosinophil morphology, Splenomegaly, Hepatosplenomegaly, Hypoalbuminemia, ... |
ORPHA:171 |
| Lethal Ataxia With Deafness And Optic Atrophy |
|
Decreased motor nerve conduction velocity, Hypouricemia, Abnormal erythrocyte enzyme level, Optic... |
ORPHA:1187 |
| Classic Phenylketonuria |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Hyperphenylalaninemia |
ORPHA:79254 |
| Waardenburg Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Aganglionic megacolon, Synophrys, Hypopigm... |
ORPHA:3440 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, Spl... |
OMIM:619381 |
| Tropical Endomyocardial Fibrosis |
|
Hepatomegaly, Right ventricular cardiomyopathy, Left atrial enlargement, Eosinophilia, Cardiomega... |
ORPHA:75565 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Pancytopenia, Hypoalbuminemia, Hypocalcemia, Unconjugated hyperbilirubinemia, Anemia |
OMIM:613658 |
| Sympathetic Ophthalmia |
|
Retinal detachment, Papilledema, Alopecia, Vitreous floaters, Poliosis, Vitritis, Retinal hemorrh... |
ORPHA:79098 |
| Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic atrophy |
OMIM:268315 |
| Juvenile Polyposis Syndrome |
|
Hypoproteinemia, Anemia |
ORPHA:2929 |
| Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Decreased number of peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axonal neur... |
ORPHA:320406 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Optic disc pallor, Hepatomegaly, Extramedullary hematopoiesis, Pancytopenia, Facial palsy, Spleno... |
OMIM:259720 |
| Waardenburg Syndrome, Type 2E |
|
White eyelashes, White eyebrow, Ocular albinism, Blue irides, Hypopigmented skin patches, Prematu... |
OMIM:611584 |
| Mitochondrial Complex I Deficiency, Nuclear Type 28 |
|
Hyperalaninemia, Optic disc pallor, Optic atrophy, Optic neuropathy |
OMIM:618249 |
| Smith-Lemli-Opitz Syndrome |
|
Hepatomegaly, Aganglionic megacolon, Ventricular septal defect, Splenomegaly, Hypoalbuminemia, El... |
OMIM:270400 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Retinal detachment, Elevated circulating creatine kinase concentration, Dilated cardiomyopathy, O... |
OMIM:253800 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Pigmentary retinopathy, Optic atrophy, Retinal dysplasia, Elevated circulating creatine kinase co... |
OMIM:613154 |
| Biotinidase Deficiency |
|
Hepatomegaly, Alopecia, Splenomegaly, Optic atrophy, Hyperammonemia |
OMIM:253260 |
| Acrodysostosis 2 With Or Without Hormone Resistance |
|
Red hair, Fair hair, Blue irides |
OMIM:614613 |
| Retinitis Pigmentosa 74 |
|
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy |
OMIM:616562 |
| Dilated Cardiomyopathy With Ataxia |
|
Muscular ventricular septal defect, Dilated cardiomyopathy, Optic atrophy, Hypochromic microcytic... |
ORPHA:66634 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Retinal telangiectasia, Thrombocytopenia, Optic atrophy, Fine hair, Premature graying of hair, Ex... |
OMIM:612199 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Methylmalonic acidemia, Hypomethioninemia, Macular coloboma, Megaloblastic anemia, Thrombocytopen... |
ORPHA:79282 |
| Chromosome Xp11.3 Deletion Syndrome |
|
Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy, Attenuation of retinal blood vessels |
OMIM:300578 |
| Joubert Syndrome 8 |
|
Optic disc pallor, Pigmentary retinopathy, Hepatomegaly |
OMIM:612291 |
| Kenny-Caffey Syndrome, Type 2 |
|
Papilledema, Transient hypophosphatemia, Retinal calcification, Hyperphosphatemia, Hypocalcemia, ... |
OMIM:127000 |
| Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome |
|
Optic atrophy, Mildly elevated creatine kinase, Elevated circulating alpha-fetoprotein concentration |
ORPHA:95433 |
| Hermansky-Pudlak Syndrome 8 |
|
Hypoplasia of the fovea, Optic disc pallor, Albinism, Silver-gray hair, Ocular albinism, Blue iri... |
OMIM:614077 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Hepatomegaly, Cor triatriatum, Ventricular septal defect, Dextrocardia, Situs inversus totalis, S... |
OMIM:619534 |
| Leber Congenital Amaurosis 15 |
|
Optic disc pallor, Pigmentary retinopathy, Peripapillary atrophy, Dull foveal reflex, Retinal deg... |
OMIM:613843 |
| Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Red hair, Hyperbilirubinemia |
OMIM:609734 |
| Chops Syndrome |
|
Curly hair, Ventricular septal defect, Thick hair, Splenomegaly, Synophrys, Optic atrophy, Anomal... |
OMIM:616368 |
| Fuchs Heterochromic Iridocyclitis |
|
Papilledema, Optic disc pallor, Retinal perforation, Vitreous floaters, Epiretinal membrane, Chor... |
ORPHA:263479 |
| Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome |
|
Highly arched eyebrow, Microcytic anemia, Abnormal optic disc morphology, Congenital stationary n... |
ORPHA:293967 |
| Hermansky-Pudlak Syndrome |
|
Hypopigmentation of hair, Partial albinism, Ocular albinism, Melanocytic nevus, Cardiomyopathy, A... |
ORPHA:79430 |
| Brittle Cornea Syndrome |
|
Retinal detachment, Abnormality of hair pigmentation, Pulmonic stenosis, Mitral valve prolapse |
ORPHA:90354 |
| Autosomal Dominant Hypocalcemia |
|
Alopecia, Abnormal fingernail morphology, Optic atrophy, Hyperphosphatemia, Hypocalcemia, Hypomag... |
ORPHA:428 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Hepatomegaly, Splenomegaly, Optic atrophy, Hypocalcemic seizures, Optic nerve compression, Anemia |
OMIM:612301 |
| Waardenburg Syndrome, Type 4C |
|
White eyelashes, Aganglionic megacolon, White eyebrow, Blue irides, Hypopigmented skin patches, P... |
OMIM:613266 |
| Triosephosphate Isomerase Deficiency |
|
Normocytic anemia, Optic disc pallor, Hemolytic anemia, Macrocytic anemia, Splenomegaly, Normochr... |
OMIM:615512 |
| Glaucoma, Primary Closed-Angle |
|
Increased cup-to-disc ratio |
OMIM:618880 |
| Immunodeficiency 96 |
|
Increased proportion of gamma-delta T cells, Increased mean corpuscular volume |
OMIM:619774 |
| Muenke Syndrome |
|
Hypopigmentation of hair, Hypopigmented skin patches, Hypermelanotic macule |
ORPHA:53271 |
| Peroxisome Biogenesis Disorder 1B |
|
Hepatomegaly, Rod-cone dystrophy, Optic atrophy, Hyperoxaluria |
OMIM:601539 |
| Aniridia 2 |
|
Optic atrophy |
OMIM:617141 |
| Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Ventricular septal defect, Tricuspid stenosis, Congenital hypoplastic anemia, ... |
OMIM:105650 |
| Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Hypopigmentation of hair, Hypopigmented skin patches, Multiple cafe-au-lait spots, Freckling, Hyp... |
ORPHA:3214 |
| Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Melanonychia, Retinal detachment, Abnormality of retinal pigmentation, Retinal dystrophy, Chorior... |
ORPHA:2526 |
| Eisenmenger Syndrome |
|
Hepatomegaly, Ventricular septal defect, Elevated circulating C-reactive protein concentration, H... |
ORPHA:97214 |
| Stankiewicz-Isidor Syndrome |
|
Ventricular septal defect, Abnormal optic disc morphology, Truncus arteriosus |
OMIM:617516 |
| Brittle Cornea Syndrome 1 |
|
Red hair, Mitral valve prolapse |
OMIM:229200 |
| Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Hypopigmentation of hair, Ocular albinism, Choroideremia, Anemia, Iris hypopigmentation |
ORPHA:2719 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Hepatomegaly, Pancytopenia, Retinal atrophy, Abnormal retinal morphology, Elevated circulating cr... |
ORPHA:2785 |
| Norrie Disease |
|
Retinal detachment, Retinal fold, Optic atrophy, Retinal dysplasia |
OMIM:310600 |
| Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:98795 |
| Hyperoxaluria, Primary, Type I |
|
Hyperoxaluria, Choroidal neovascularization, Optic neuropathy, Retinal crystals, Optic atrophy, R... |
OMIM:259900 |
| Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Hepatomegaly, Hypopigmentation of hair, Abnormal eyebrow morphology, Aganglionic megacolon, Splen... |
ORPHA:163746 |
| Von Hippel-Lindau Disease |
|
Papilledema, Retinal detachment, Hypertensive retinopathy, Pancreatic islet cell adenoma, Pancrea... |
ORPHA:892 |
| Peroxisome Biogenesis Disorder 4B |
|
Hepatomegaly, Retinal dystrophy, Decreased nerve conduction velocity, Optic atrophy, Rod-cone dys... |
OMIM:614863 |
| Bardet-Biedl Syndrome 20 |
|
Papilledema, Atrial septal defect, Retinal vascular tortuosity, Hypercholesterolemia, Rod-cone dy... |
OMIM:619471 |
| Achalasia-Addisonianism-Alacrima Syndrome |
|
Orthostatic hypotension, Hyperpigmentation of the skin, Optic atrophy, Abnormal autonomic nervous... |
OMIM:231550 |
| Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Alopecia, Retinal dystrophy, Optic nerve hypoplasia, Leukocytosis, Optic atrophy, Azotemia, Gener... |
OMIM:619321 |
| Angelman Syndrome Due To A Point Mutation |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:411511 |
| Hypohidrotic Ectodermal Dysplasia |
|
Abnormal hair quantity, Slow-growing hair, Aplasia/Hypoplasia of the eyebrow, Breast aplasia, Gen... |
ORPHA:238468 |
| Cystinosis, Nephropathic |
|
Hyponatremia, Hepatomegaly, Hypopigmentation of the skin, Hypopigmentation of hair, Splenomegaly,... |
OMIM:219800 |
| Autosomal Dominant Kenny-Caffey Syndrome |
|
Papilledema, Retinal calcification, Anemia, Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemic ... |
ORPHA:93325 |
| Koolen-De Vries Syndrome |
|
Hypopigmentation of hair, Abnormal cardiac septum morphology, Bicuspid aortic valve, Abnormality ... |
ORPHA:96169 |
| Degcags Syndrome |
|
Synophrys, Low anterior hairline, Abnormality of skin pigmentation, Premature graying of hair, Le... |
OMIM:619488 |
| Dyskeratosis Congenita, X-Linked |
|
Ridged nail, Split nail, Alopecia, Acute myeloid leukemia, Sparse eyelashes, Pancytopenia, Reticu... |
OMIM:305000 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Papilledema, Abnormality of retinal pigmentation, Choroidal neovascularization... |
ORPHA:91500 |
| Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:98794 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Bicuspid aortic valve, Optic nerve hypoplasia, Facial palsy, Truncus arteriosus, Ventricular sept... |
ORPHA:508498 |
| Sim1-Related Prader-Willi-Like Syndrome |
|
Chorioretinal hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair |
ORPHA:398079 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Abnormal optic disc morphology, Optic atrophy |
ORPHA:363417 |
| Magel2-Related Prader-Willi-Like Syndrome |
|
Atrial septal defect, Chorioretinal hypopigmentation, Hypopigmentation of the skin, Hypopigmentat... |
ORPHA:398069 |
| Pmm2-Cdg |
|
Pericarditis, Pericardial effusion, Reduced thyroxin-binding globulin, Photoreceptor layer loss o... |
ORPHA:79318 |
| Prader-Willi Syndrome Due To Translocation |
|
Hypopigmentation of hair, Patent foramen ovale, Abnormal heart morphology, Stellate iris, Hypopig... |
ORPHA:177907 |
| 7Q11.23 Microduplication Syndrome |
|
Ventricular septal defect, Sparse anterior scalp hair, Abnormal optic disc morphology, Long eyela... |
ORPHA:96121 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Abnormal optic disc morphology, Subretinal deposits, Retinal dystrophy, Supernumerary nipple |
ORPHA:397715 |
| Cancer-Associated Retinopathy |
|
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Foveal hyporeflective spa... |
ORPHA:71505 |
| Smith-Lemli-Opitz Syndrome |
|
Hypopigmentation of hair, Ventricular septal defect, Aganglionic megacolon, Abnormal eyelash morp... |
ORPHA:818 |
| Prader-Willi Syndrome |
|
Hypopigmentation of hair, Frontal upsweep of hair, Generalized hypopigmentation, Hypopigmentation... |
OMIM:176270 |
| Ramon Syndrome |
|
Optic disc pallor, Pigmentary retinopathy, Hypertrichosis |
OMIM:266270 |
| Autosomal Recessive Faciodigitogenital Syndrome |
|
Dry hair, Coarse hair, Hypopigmentation of hair, Widow's peak |
ORPHA:1974 |
| 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 |
| Prader-Willi Syndrome |
|
Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:739 |
| Menkes Disease |
|
Sparse hair, Woolly hair, Hypopigmentation of hair |
ORPHA:565 |
