Retinitis Pigmentosa 57 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Cystoid macular edema, Rod-cone dystrophy |
OMIM:613582 |
Deafness, Autosomal Recessive 9 |
|
Sensorineural hearing impairment, Absent brainstem auditory responses |
OMIM:601071 |
Auditory Neuropathy, Autosomal Dominant 1 |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:609129 |
Leber Hereditary Optic Neuropathy, Modifier Of |
|
Optic atrophy, Leber optic atrophy |
OMIM:308905 |
Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment |
OMIM:616515 |
Macular Dystrophy With Central Cone Involvement |
|
Optic disc pallor, Macular dystrophy, Bull's eye maculopathy |
OMIM:616170 |
Retinitis Pigmentosa 36 |
|
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor... |
OMIM:610599 |
Ceroid Lipofuscinosis, Neuronal, 9 |
|
Optic atrophy, Vacuolated lymphocytes, Rod-cone dystrophy |
OMIM:609055 |
Fetal Cytomegalovirus Syndrome |
|
Anemia, Hepatomegaly, Splenomegaly |
ORPHA:294 |
Optic Atrophy 2 |
|
Optic atrophy |
OMIM:311050 |
Leber Congenital Amaurosis 13 |
|
Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of retinal blood vessels,... |
OMIM:612712 |
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Dominant |
|
Optic atrophy |
OMIM:165199 |
Optic Atrophy--Spastic Paraplegia Syndrome |
|
Optic atrophy |
OMIM:311100 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Optic atrophy, Optic disc pallor, Peripheral axonal neuropathy |
OMIM:617087 |
Optic Atrophy 5 |
|
Optic atrophy |
OMIM:610708 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Hepatomegaly, Splenomegaly |
ORPHA:2274 |
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness |
|
Optic atrophy |
OMIM:136600 |
Ribose 5-Phosphate Isomerase Deficiency |
|
Increased level of xylitol in urine, Increased level of D-threitol in urine, Increased level of r... |
OMIM:608611 |
Metaphyseal Dysplasia, Anetoderma, And Optic Atrophy |
|
Optic atrophy, Cranial nerve compression, Macular atrophy |
OMIM:250450 |
Optic Atrophy 13 With Retinal And Foveal Abnormalities |
|
Optic atrophy |
OMIM:165510 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy |
OMIM:601382 |
Spastic Ataxia 7, Autosomal Dominant |
|
Optic atrophy |
OMIM:108650 |
Ravine Syndrome |
|
Ataxia, Abnormal auditory evoked potentials |
ORPHA:99852 |
Foveal Hypoplasia-Presenile Cataract Syndrome |
|
Optic atrophy |
ORPHA:2253 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Sensorineural hearing impairment, Ataxia, Abnormal motor evoked potentials, Difficulty walking, A... |
ORPHA:320401 |
Leber Congenital Amaurosis 19 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Retinal degeneration |
OMIM:618513 |
Olivopontocerebellar Atrophy-Deafness Syndrome |
|
Optic atrophy, Chorioretinal coloboma |
ORPHA:2732 |
Periventricular Nodular Heterotopia 7 |
|
Optic atrophy, Cryptorchidism |
OMIM:617201 |
Glaucoma 1, Open Angle, P |
|
Increased cup-to-disc ratio |
OMIM:177700 |
Birdshot Chorioretinopathy |
|
Photoreceptor layer loss on macular OCT, Abnormal retinal vascular morphology, Macular hole, Cyst... |
ORPHA:179 |
Spastic Ataxia 4, Autosomal Recessive |
|
Optic atrophy |
OMIM:613672 |
Optic Atrophy 3, Autosomal Dominant |
|
Optic atrophy, Optic disc pallor |
OMIM:165300 |
Retinitis Pigmentosa 71 |
|
Perifoveal ring of hyperautofluorescence, Rod-cone dystrophy, Attenuation of retinal blood vessel... |
OMIM:616394 |
3-Methylglutaconic Aciduria, Type V |
|
Microvesicular hepatic steatosis, 3-Methylglutaric aciduria, Hypospadias, Optic atrophy, Dilated ... |
OMIM:610198 |
Peripheral Cone Dystrophy |
|
Optic atrophy, Peripheral retinal degeneration, Optic disc pallor, Cone/cone-rod dystrophy |
OMIM:609021 |
Combined Saposin Deficiency |
|
Optic atrophy, Hepatomegaly, Splenomegaly |
OMIM:611721 |
Central Retinal Vein Occlusion |
|
Cystoid macular edema, Macular degeneration, Papilledema, Macular edema, Retinal neovascularizati... |
ORPHA:411527 |
Retinohepatoendocrinologic Syndrome |
|
Optic disc pallor, Degenerative liver disease, Cone dystrophy |
OMIM:268040 |
Wagner Vitreoretinopathy |
|
Exudative vitreoretinopathy, Peripheral tractional retinal detachment, Chorioretinal atrophy, Vit... |
OMIM:143200 |
Liberfarb Syndrome |
|
Retinal pigment epithelial mottling, Optic disc pallor, Retinal degeneration, Bone spicule pigmen... |
OMIM:618889 |
Retinitis Pigmentosa 30 |
|
Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood vessels, Optic atrophy, B... |
OMIM:607921 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Sideroblastic anemia, Atrial septal defect, Aminoaciduria, Retinal degeneration, Cone/cone-rod dy... |
OMIM:249270 |
Ceroid Lipofuscinosis, Neuronal, 11 |
|
Optic atrophy, Retinal dystrophy |
OMIM:614706 |
Retinitis Pigmentosa 33 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Opt... |
OMIM:610359 |
Familial Exudative Vitreoretinopathy |
|
Vitreous hemorrhage, Rhegmatogenous retinal detachment, Peripheral retinal avascularization, Chor... |
ORPHA:891 |
Ocular Pigment Dispersion With Or Without Glaucoma |
|
Optic atrophy |
OMIM:600510 |
Spastic Paraplegia 74, Autosomal Recessive |
|
Optic atrophy, Peripheral axonal neuropathy |
OMIM:616451 |
Camos Syndrome |
|
Optic atrophy, Nephrotic syndrome, Renal insufficiency |
ORPHA:83472 |
Optic Atrophy 8 |
|
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Prolonged s... |
OMIM:616648 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Ataxia, Optic atrophy, Gait disturbance, Abnormal auditory evoked potentials, Progressive sensori... |
OMIM:125250 |
Usher Syndrome, Type 1M |
|
Left ventricular hypertrophy, Optic disc pallor, Drusen |
OMIM:618632 |
Spondylometaphyseal Dysplasia, Axial |
|
Retinal degeneration, Rod-cone dystrophy, Splenomegaly, Cone/cone-rod dystrophy, Optic atrophy |
OMIM:602271 |
Ceroid Lipofuscinosis, Neuronal, 3 |
|
Retinal degeneration, Rod-cone dystrophy, Macular degeneration, Concentric hypertrophic cardiomyo... |
OMIM:204200 |
Retinitis Pigmentosa 38 |
|
Optic disc pallor, Peripheral retinal atrophy, Rod-cone dystrophy, Macular atrophy |
OMIM:613862 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Gait disturbance, Hearing impairment, Decreased nerve conduction velocity, Abnormal auditory evok... |
OMIM:601455 |
Retinitis Pigmentosa 32 |
|
Photoreceptor layer loss on macular OCT, Retinal degeneration, Attenuation of retinal blood vesse... |
OMIM:609913 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Exudative vitreoretinopathy, Peripheral retinal avascularization, Falciform retinal fold, Retinal... |
OMIM:305390 |
Hemochromatosis, Type 2B |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Hepatic fibrosis, Hypogonad... |
OMIM:613313 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid, Jaundice, Splenomegaly |
OMIM:206400 |
Cone-Rod Dystrophy 16 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Optic disc pal... |
OMIM:614500 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, EEG abnormality, Choreoath... |
OMIM:617519 |
Hypereosinophilic Syndrome, Idiopathic |
|
Hepatomegaly, Splenomegaly, Restrictive cardiomyopathy, Myeloproliferative disorder, Eosinophilia... |
OMIM:607685 |
Retinitis Pigmentosa 11 |
|
Perifoveal ring of hyperautofluorescence, Rod-cone dystrophy, Macular degeneration, Macular edema... |
OMIM:600138 |
Osteopetrosis, Autosomal Recessive 8 |
|
Hepatomegaly, Splenomegaly, Facial palsy, Optic atrophy, Anemia, Thrombocytopenia |
OMIM:615085 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Hepatomegaly, Rod-cone dystrophy, Pigmentary retinopathy, Optic atrophy, Diffuse hepatic steatosi... |
OMIM:264470 |
Intracranial Hypertension, Idiopathic |
|
Papilledema |
OMIM:243200 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Ethylmalonic aciduria, Increased level of methylsuccinic acid in urine, Optic atrophy, Hepatic st... |
ORPHA:26792 |
Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
Retinitis Pigmentosa 50 |
|
Rod-cone dystrophy, Retinal detachment, Attenuation of retinal blood vessels, Retinal flecks, Opt... |
OMIM:613194 |
Osteopetrosis, Autosomal Recessive 4 |
|
Hepatomegaly, Splenomegaly, Anemia, Hepatosplenomegaly, Facial palsy, Optic atrophy, Optic disc p... |
OMIM:611490 |
Hypervitaminosis A, Susceptibility To |
|
Papilledema, Ascites, Renal insufficiency, Abnormality of the liver |
OMIM:240150 |
Sandhoff Disease |
|
Hepatomegaly, Cherry red spot of the macula, Splenomegaly |
ORPHA:796 |
Retinal Venous Beading |
|
Vitreous hemorrhage, Nephritis, Retinal neovascularization, Neutropenia, Retinal infarction, Abno... |
OMIM:180080 |
Exudative Vitreoretinopathy 1 |
|
Exudative vitreoretinopathy, Vitreous hemorrhage, Posterior vitreous detachment, Peripheral retin... |
OMIM:133780 |
Cholestasis With Gallstone, Ataxia, And Visual Disturbance |
|
Cholelithiasis, Giant cell hepatitis, Retinal degeneration, Optic atrophy, Jaundice |
OMIM:214980 |
Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Optic atrophy, Retinal degeneration |
OMIM:614322 |
Retinitis Pigmentosa 70 |
|
Optic disc pallor, Retinal degeneration, Rod-cone dystrophy |
OMIM:615922 |
Irvan Syndrome |
|
Macular edema, Retinal detachment, Optic atrophy, Vitreous floaters, Tractional retinal detachmen... |
ORPHA:209943 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly |
ORPHA:46532 |
Ceroid Lipofuscinosis, Neuronal, 7 |
|
Optic atrophy, Retinopathy, Pigmentary retinopathy |
OMIM:610951 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Optic atrophy, Optic disc pallor, Macular atrophy, Retinopathy |
OMIM:616171 |
Cone-Rod Dystrophy 17 |
|
Optic disc pallor, Cone/cone-rod dystrophy |
OMIM:615163 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:1574 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatomegaly, Splenomegaly, Elevated hepatic transaminase, Hepatic fibrosis, Hepatic steatosis |
OMIM:614480 |
Eales Disease |
|
Vitreous hemorrhage, Cystoid macular edema, Rhegmatogenous retinal detachment, Subhyaloid hemorrh... |
ORPHA:40923 |
Optic Atrophy 12 |
|
Optic atrophy, Optic disc pallor |
OMIM:618977 |
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:2246 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hepatomegaly, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, Choles... |
OMIM:620010 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Pancreatitis, Hepatomegaly, Splenomegaly, Optic atrophy, Renal insufficiency, Neutropenia, Anemia... |
ORPHA:79312 |
Tyrosinemia Type 1 |
|
Hepatomegaly, Acute hepatic failure, Splenomegaly, Hepatocellular carcinoma, Generalized aminoaci... |
ORPHA:882 |
Leber Hereditary Optic Neuropathy |
|
Optic atrophy, Retinal telangiectasia, Retinal vascular tortuosity |
ORPHA:104 |
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome |
|
Optic atrophy, Hepatosplenomegaly, Hepatic fibrosis, Acute hepatic failure |
ORPHA:466794 |
Retinitis Pigmentosa 63 |
|
Optic disc pallor, Rod-cone dystrophy |
OMIM:614494 |
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome |
|
Optic atrophy |
ORPHA:2773 |
Spinocerebellar Ataxia, Autosomal Recessive 29 |
|
Retinal pigment epithelial mottling, Optic disc pallor, Peripheral axonal neuropathy |
OMIM:619389 |
Retinitis Pigmentosa 26 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Rod-cone dystrophy |
OMIM:608380 |
Hemoglobin H Disease |
|
Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin |
OMIM:613978 |
Leber Congenital Amaurosis 4 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Macular atrophy |
OMIM:604393 |
Vitreoretinopathy, Neovascular Inflammatory |
|
Vitreous hemorrhage, Peripheral retinal neovascularization, Retinal detachment, Vitreoretinopathy... |
OMIM:193235 |
Retinitis Pigmentosa 19 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Opt... |
OMIM:601718 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
3-Methylglutaconic aciduria, Splenomegaly |
OMIM:619813 |
Hemochromatosis, Type 2A |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Hypogonadotropic hypogonadism, Dilated cardiomyopathy, Azo... |
OMIM:602390 |
Stt3B-Cdg |
|
Micropenis, Optic atrophy, Cryptorchidism, Thrombocytopenia, Small scrotum |
ORPHA:370924 |
Retinitis Pigmentosa 88 |
|
Cystoid macular edema, Macular degeneration, Attenuation of retinal blood vessels, Optic disc pal... |
OMIM:618826 |
Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Abnormal macular morphology, Thrombocytopenia... |
OMIM:607616 |
Congenital Disorder Of Glycosylation, Type Ik |
|
Hypogonadism, Hepatomegaly, Cardiomyopathy, Splenomegaly |
OMIM:608540 |
Developmental And Epileptic Encephalopathy 28 |
|
Optic atrophy, Retinal degeneration |
OMIM:616211 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Peripheral axonal atrophy, Decreased sensory nerve conduction velocity, Onion bulb formation, Dec... |
OMIM:609260 |
Autosomal Recessive Spastic Paraplegia Type 57 |
|
Optic atrophy, Abnormality of peripheral nerve conduction |
ORPHA:431329 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Optic disc pallor, Peripapillary atrophy, Macular degeneration |
OMIM:618195 |
Retinitis Pigmentosa |
|
Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Hypoplasia of penis, O... |
ORPHA:791 |
Night Blindness, Congenital Stationary, Type 1G |
|
Optic disc pallor, Congenital stationary night blindness, Rod-cone dystrophy |
OMIM:616389 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Chronic kidney disease, Hepatomegaly, Retinal degeneration, Nephronophthisis, Splenomegaly, Hepat... |
OMIM:615630 |
Nephronophthisis 19 |
|
Hepatomegaly, Nephronophthisis, Splenomegaly, Cholestasis, Hepatic fibrosis, Bile duct proliferat... |
OMIM:616217 |
Congenital Disorder Of Glycosylation, Type Ix |
|
Micropenis, Optic atrophy, Cryptorchidism, Thrombocytopenia, Small scrotum |
OMIM:615597 |
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease |
|
Papilledema, Retinal arteriolar constriction |
OMIM:124950 |
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome |
|
Abnormal peripheral action potential amplitude, Decreased nerve conduction velocity, Sensory axon... |
ORPHA:457205 |
Neurodegeneration With Brain Iron Accumulation |
|
Optic atrophy, Retinopathy |
ORPHA:385 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Poikilocytosis, Hypog... |
OMIM:615234 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Intrahepatic biliary dysgenesis, Pigmentary retin... |
OMIM:614866 |
Retinitis Pigmentosa 62 |
|
Optic disc pallor, Rod-cone dystrophy |
OMIM:614181 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Optic atrophy, Uraciluria, Coloboma |
OMIM:274270 |
Hemoglobin D Disease |
|
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... |
ORPHA:90039 |
Sea-Blue Histiocyte Disease |
|
Sea-blue histiocytosis, Splenomegaly, Cirrhosis, Elevated circulating aspartate aminotransferase ... |
OMIM:269600 |
Leber Congenital Amaurosis 9 |
|
Retinal pigment epithelial mottling, Macular coloboma, Attenuation of retinal blood vessels, Opti... |
OMIM:608553 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Facial palsy, Abnormal cranial nerve morphology, Diffi... |
OMIM:601596 |
Mohr-Tranebjaerg Syndrome |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Postlingual sensorineural ... |
ORPHA:52368 |
Optic Atrophy 6 |
|
Optic atrophy |
OMIM:258500 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Abnormality of retinal pigmentation, Retinal detachment, Retinal dystrophy, Optic disc pallor, Re... |
OMIM:251270 |
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities |
|
Nephrotic syndrome, Retinal arteriolar constriction, Diffuse mesangial sclerosis, Optic atrophy, ... |
OMIM:249660 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hepatomegaly, Splenomegaly |
OMIM:619175 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Hepatitis, Autoimmune h... |
ORPHA:444463 |
Retinitis Pigmentosa 28 |
|
Bone spicule pigmentation of the retina, Optic disc pallor, Rod-cone dystrophy |
OMIM:606068 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 |
|
Optic atrophy, Segmental peripheral demyelination/remyelination, Onion bulb formation, Rod-cone d... |
OMIM:311070 |
Neuraminidase Deficiency |
|
Hepatomegaly, Vacuolated lymphocytes, Cherry red spot of the macula, Splenomegaly, Urinary excret... |
OMIM:256550 |
Galactosemia Iii |
|
Hepatomegaly, Aminoaciduria, Splenomegaly, Galactosuria, Jaundice |
OMIM:230350 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Biliary tract abnormality, Elevated hepatic transaminase, ... |
ORPHA:79301 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Jaundice, Splenomegaly, Hepatic failure, Cirrhosis, Sclerosing cholangitis, Cholest... |
OMIM:617394 |
Congenital Hydrocephalus |
|
Optic atrophy, Macular hypoplasia, Iris coloboma, Abnormal heart morphology |
ORPHA:2185 |
Mitochondrial Complex I Deficiency, Nuclear Type 7 |
|
Optic atrophy, Hypertrophic cardiomyopathy |
OMIM:618229 |
Diencephalic Syndrome |
|
Optic atrophy, Long penis |
ORPHA:1672 |
Optic Atrophy 9 |
|
Optic atrophy |
OMIM:616289 |
Leber Congenital Amaurosis 2 |
|
Absent foveal reflex, Attenuation of retinal blood vessels, Pigmentary retinopathy, Fundus atroph... |
OMIM:204100 |
Leukodystrophy, Hypomyelinating, 21 |
|
Optic atrophy, Hypogonadotropic hypogonadism, Cryptorchidism |
OMIM:619310 |
Hurler-Scheie Syndrome |
|
Hepatomegaly, Splenomegaly, Abnormality of the tonsils, Abnormal heart valve morphology, Cardiomy... |
ORPHA:93476 |
Sarcosinemia |
|
Pulmonic stenosis, Optic atrophy, Hypertrophic cardiomyopathy, Hypersarcosinuria |
ORPHA:3129 |
3-Methylglutaconic Aciduria, Type Iii |
|
Optic atrophy, 3-Methylglutaconic aciduria, 3-Methylglutaric aciduria |
OMIM:258501 |
Cone-Rod Dystrophy, X-Linked, 3 |
|
Absent foveal reflex, Abnormality of macular pigmentation, Retinal detachment, Cone/cone-rod dyst... |
OMIM:300476 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Pancreatitis, Hepatomegaly, Leukopenia, Macrocytic anemia, Optic atrophy, Renal insufficiency, An... |
ORPHA:27 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Splenomegaly, Elevated circulating aspartate aminotransferase concentration, Cholestasis, Hepatic... |
OMIM:619658 |
Galactose Epimerase Deficiency |
|
Jaundice, Hepatomegaly, Aminoaciduria, Splenomegaly |
ORPHA:79238 |
Optic Atrophy With Demyelinating Disease Of Cns |
|
Optic atrophy, Optic neuritis, Peripheral demyelination |
OMIM:165200 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Optic atrophy, Dilated cardiomyopathy, Hepatomegaly, Hypertrophic cardiomyopathy |
OMIM:614299 |
Trimethylaminuria |
|
Trimethylaminuria, Anemia, Neutropenia, Splenomegaly |
OMIM:602079 |
Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Optic atrophy, Hypertrophic cardiomyopathy |
OMIM:618228 |
Coach Syndrome 1 |
|
Abnormal abdomen morphology, Hepatomegaly, Nephronophthisis, Intrahepatic bile duct dilatation, U... |
OMIM:216360 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly |
OMIM:183350 |
Wolfram Syndrome, Mitochondrial Form |
|
Megaloblastic anemia, Abnormal autonomic nervous system physiology, Hydroureter, Thrombocytopenia... |
OMIM:598500 |
Spastic Paraplegia, Optic Atrophy, And Dementia |
|
Optic atrophy, Optic disc pallor |
OMIM:182830 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Cholestasis, Enlarged kidney, Hepatic cys... |
OMIM:208540 |
Auditory Neuropathy And Optic Atrophy |
|
Optic atrophy, Rod-cone dystrophy |
OMIM:617717 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Retinal detachment, Hematuria, Optic atrophy, Iris coloboma, Chorioretinal coloboma |
ORPHA:1473 |
Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Optic atrophy, Optic disc pallor, Hypertrophic cardiomyopathy |
OMIM:612989 |
Retinitis Pigmentosa 1 |
|
Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of retinal blood vessels,... |
OMIM:180100 |
Late-Infantile/Juvenile Krabbe Disease |
|
EEG with persistent abnormal rhythmic activity, Ataxia, Loss of ambulation, Decreased nerve condu... |
ORPHA:206443 |
Sickle Cell Anemia |
|
Cholelithiasis, Hepatomegaly, Leukocytosis, Splenomegaly, Retinopathy, Hematuria, Increased red c... |
OMIM:603903 |
Neonatal Severe Primary Hyperparathyroidism |
|
Hepatomegaly, Aminoaciduria, Splenomegaly |
ORPHA:417 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Recurrent pancreatitis, Splenomegaly |
OMIM:118830 |
Infantile-Onset Spinocerebellar Ataxia |
|
Optic atrophy, Abnormality of the autonomic nervous system |
ORPHA:1186 |
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities |
|
Optic disc pallor, Retinal dystrophy |
OMIM:616079 |
Congenital Rubella Syndrome |
|
Abnormality of retinal pigmentation, Atrial septal defect, Hepatomegaly, Splenomegaly, Ventricula... |
ORPHA:290 |
Hemochromatosis, Type 1 |
|
Testicular atrophy, Hepatomegaly, Splenomegaly, Cirrhosis, Hypogonadotropic hypogonadism, Hepatoc... |
OMIM:235200 |
Amyloidosis, Familial Visceral |
|
Nephrotic syndrome, Hepatomegaly, Splenomegaly, Nephropathy, Hematuria, Cholestasis, Proteinuria |
OMIM:105200 |
Retinitis Pigmentosa 78 |
|
Optic disc pallor, Cystoid macular edema |
OMIM:617433 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Bence Jones Proteinuria, Splenomegaly, Nephropathy, Abnormal B cell count, Anemia, ... |
ORPHA:100024 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Megaloblastic anemia, Atrial septal defect, Retinal dystrophy, Ventricular septal defect, Optic a... |
ORPHA:49827 |
Striatonigral Degeneration, Infantile |
|
Optic atrophy |
OMIM:271930 |
Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome |
|
Optic atrophy, Retrobulbar optic neuritis, Abnormal leukocyte morphology |
ORPHA:3151 |
Wolfram Syndrome 1 |
|
Megaloblastic anemia, Testicular atrophy, Hydroureter, Neurogenic bladder, Pigmentary retinopathy... |
OMIM:222300 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Nephrotic syndrome, Hepatomegaly, Splenomegaly, Increased proportion autoreactive unresponsive CD... |
OMIM:615559 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Remnants of the hyaloid vascular system, Posterior lenticonus, Retinal dystrophy, Iris coloboma, ... |
ORPHA:231736 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Hepatomegaly, Lymphocytosis, Splenomegaly |
OMIM:606445 |
Usher Syndrome, Type Iiib |
|
Optic disc pallor |
OMIM:614504 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Hypoplasia of penis, Splenomegaly, Hypospadias, Abnormality of the ureter, Anemia, Ascites |
ORPHA:1046 |
Hyperbilirubinemia, Shunt, Primary |
|
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Reticulocytosis, Jaundice, Erythroid... |
OMIM:237800 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, Elevat... |
OMIM:619868 |
Coloboma, Ocular, Autosomal Dominant |
|
Remnants of the hyaloid vascular system, Morning glory anomaly, Optic disc coloboma, Optic nerve ... |
OMIM:120200 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Ataxia, Temporal optic dis... |
ORPHA:1215 |
Isolated Optic Nerve Hypoplasia/Aplasia |
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Optic nerve hypoplasia, Peripheral vitreous opacities, Pseudopapilledema, Optic disc hypoplasia, ... |
ORPHA:137902 |
Erythroleukemia, Familial, Susceptibility To |
|
Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia, Leukemia, Acute myeloid leukemia, Erythroid... |
OMIM:133180 |
Infantile Spasms-Broad Thumbs Syndrome |
|
Optic disc pallor, Hypertrophic cardiomyopathy, Vaginal hernia |
ORPHA:3173 |
Woods Syndrome |
|
Ventricular septal defect, Optic atrophy, Supernumerary nipple |
OMIM:615236 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thromb... |
OMIM:615285 |
Beta-Thalassemia, Dominant Inclusion Body Type |
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Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic... |
OMIM:603902 |
Jalili Syndrome |
|
Optic disc pallor, Cone/cone-rod dystrophy |
OMIM:217080 |
Vitreoretinochoroidopathy |
|
Vitreous hemorrhage, Retinal arteriolar constriction, Retinal detachment, Retinal neovascularizat... |
OMIM:193220 |
Congenital Disorder Of Glycosylation, Type Iio |
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Cholestatic liver disease, Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Hepatosplenome... |
OMIM:616828 |
Mitochondrial Complex I Deficiency, Nuclear Type 14 |
|
Optic atrophy, Hypertrophic cardiomyopathy |
OMIM:618236 |
Alpha-Thalassemia |
|
Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, J... |
ORPHA:846 |
Adams-Oliver Syndrome 6 |
|
Splenomegaly, Ventricular septal defect, Renal hypoplasia, Hepatic fibrosis, Portal hypertension,... |
OMIM:616589 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Abnormality of the lymphatic system, Biliary tract abnorma... |
ORPHA:1414 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Ventricular hypertrophy, Optic disc pallor, Atrial septal defect, Tetralogy of Fallot |
OMIM:300887 |
Leigh Syndrome With Leukodystrophy |
|
Pigmentary retinopathy, Ventricular septal defect, Optic atrophy, Anemia, Hypertrophic cardiomyop... |
ORPHA:255241 |
Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Situs inversus totalis, Optic disc pallor, Rod-cone dystrophy, Macular atrophy |
OMIM:615434 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Abnormality of the hepatic vasculature, Abnormal retinal vascular morphology, Macular edema, Neph... |
ORPHA:247691 |
Mitochondrial Complex I Deficiency, Nuclear Type 34 |
|
Optic atrophy, Optic disc pallor |
OMIM:618776 |
Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Filippi Syndrome |
|
Ventricular septal defect, Optic atrophy, Ambiguous genitalia, Cryptorchidism |
OMIM:272440 |
Leber Congenital Amaurosis 14 |
|
Optic disc pallor, Rod-cone dystrophy, Retinal dystrophy |
OMIM:613341 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Optic disc pallor, Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Renal tubular dysfunction, Hepatomegaly, Pancreatitis, Optic atrophy, Renal insufficiency, Neutro... |
ORPHA:289916 |
Retinitis Pigmentosa 12 |
|
Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of retinal blood vessels,... |
OMIM:600105 |
Beta-Thalassemia |
|
Cholelithiasis, Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Hypogonadotropic hypogonadism, T... |
ORPHA:848 |
Abcd Syndrome |
|
Total intestinal aganglionosis, Hearing impairment, Aganglionic megacolon, Abnormal auditory evok... |
OMIM:600501 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatomegaly, Splenomegaly, Hepatic failure, Iron deficiency anemia, Elevated hepatic transaminas... |
OMIM:616278 |
Sialidosis Type 2 |
|
Hepatomegaly, Splenomegaly, Abnormal macular morphology, Nephropathy, Ascites |
ORPHA:87876 |
Splenoportal Vascular Anomalies |
|
Splenomegaly, Cirrhosis, Hepatic fibrosis, Ascites, Anomalous splenoportal venous system |
OMIM:271500 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Optic atrophy, Retinal dysplasia |
OMIM:613154 |
Early-Onset X-Linked Optic Atrophy |
|
Optic atrophy, Optic disc pallor, Decreased nerve conduction velocity |
ORPHA:98890 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Recurrent tonsillitis, Splenomegaly, Microcytic anemia, Lymphadenopathy |
OMIM:618852 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatic fibrosis, Hepatomegaly, Hepatic failure, Splenomegaly |
OMIM:616719 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Hemophagocytosis, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia, Lymphadenopa... |
OMIM:603552 |
Glaucoma 1, Open Angle, F |
|
Increased cup-to-disc ratio |
OMIM:603383 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Atrial septal defect, Hepatomegaly, Splenomegaly, Unilateral renal agenesis, Cirrhosis, Cholestas... |
OMIM:614576 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Intrahepatic cholestasis, B... |
OMIM:602347 |
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Optic disc pallor, Retinal thinning |
OMIM:618970 |
Spinocerebellar Ataxia 7 |
|
Optic atrophy, Pigmentary retinopathy, Macular degeneration |
OMIM:164500 |
Aicardi-Goutieres Syndrome 9 |
|
Hepatomegaly, Micropenis, Anemia, Left ventricular hypertrophy, Chorioretinal atrophy, Hepatosple... |
OMIM:619487 |
Hsd10 Mitochondrial Disease |
|
Optic atrophy, Hypertrophic cardiomyopathy, Retinal degeneration |
OMIM:300438 |
Retinitis Pigmentosa 79 |
|
Optic disc pallor, Macular atrophy |
OMIM:617460 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Neonatal cholestatic liver ... |
OMIM:214900 |
Srd5A3-Cdg |
|
Decreased response to growth hormone stimulation test, Rod-cone dystrophy, Coloboma, Optic atroph... |
ORPHA:324737 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly |
ORPHA:231393 |
Infantile Refsum Disease |
|
Hepatomegaly, Rod-cone dystrophy, Optic atrophy, Facial palsy, Cardiomyopathy |
ORPHA:772 |
Transaldolase Deficiency |
|
Decreased liver function, Hepatomegaly, Micronodular cirrhosis, Atrial septal defect, Splenomegal... |
OMIM:606003 |
Optic Nerve Hypoplasia, Bilateral |
|
Remnants of the hyaloid vascular system, Optic nerve aplasia, Morning glory anomaly, Optic nerve ... |
OMIM:165550 |
Sea-Blue Histiocytosis |
|
Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Retinopathy, Mediastinal lymphadenopathy, Thr... |
ORPHA:158029 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Renal tubular acidosis, Hepatomegaly, Splenomegaly, Cirrhosis, Myoglobinuria, Hepatocellular carc... |
ORPHA:370 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Cholelithiasis, Anemia of inadequate production, Splenomegaly, Reticulocytosis, Jaundice |
OMIM:224100 |
Bardet-Biedl Syndrome 20 |
|
Atrial septal defect, Pancreatitis, Rod-cone dystrophy, Micropenis, Papilledema, Retinal vascular... |
OMIM:619471 |
Distal Monosomy 17Q |
|
Optic atrophy, Abnormal cardiac septum morphology, Hepatomegaly |
ORPHA:1597 |
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type) |
|
Optic atrophy, Hypergonadotropic hypogonadism, Sensory axonal neuropathy, Elevated hepatic transa... |
OMIM:271245 |
8P11.2 Deletion Syndrome |
|
Atrial septal defect, Hypoplasia of penis, Spherocytosis, Splenomegaly, Hypogonadotropic hypogona... |
ORPHA:251066 |
Retinitis Pigmentosa 86 |
|
Cystoid macular edema, Nummular pigmentation of the fundus, Attenuation of retinal blood vessels,... |
OMIM:618613 |
X-Linked Spinocerebellar Ataxia Type 3 |
|
Optic atrophy |
ORPHA:85297 |
Immunodeficiency 16 |
|
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly |
OMIM:615593 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Neutropenia, Hemophagocytosis, Splenomegaly, Abnormal renal physiology, Prostate cancer, Hepatosp... |
ORPHA:158057 |
Developmental And Epileptic Encephalopathy 75 |
|
Decreased liver function, Optic atrophy, Optic disc pallor, Prolonged neonatal jaundice, Cardiomy... |
OMIM:618437 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatosple... |
OMIM:616860 |
Dilated Cardiomyopathy With Ataxia |
|
Microvesicular hepatic steatosis, Hypoplasia of penis, Muscular ventricular septal defect, Hypoch... |
ORPHA:66634 |
Aica-Ribosuria Due To Atic Deficiency |
|
Optic atrophy, Atrial septal defect, Clitoral hypertrophy, Fused labia minora |
OMIM:608688 |
Cinca Syndrome |
|
Leukocytosis, Papilledema, Eosinophilia, Hepatosplenomegaly, Anemia, Lymphadenopathy |
OMIM:607115 |
Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenosis, Optic atrophy, Abnormal... |
OMIM:618164 |
Leukodystrophy, Hypomyelinating, 19, Transient Infantile |
|
Optic atrophy, Hypospadias |
OMIM:618688 |
Roifman Syndrome |
|
Hepatomegaly, Splenomegaly, Eosinophilia, Retinal dystrophy, Ventricular septal defect, Noncompac... |
OMIM:616651 |
Lysosomal Acid Lipase Deficiency |
|
Hepatomegaly, Periportal fibrosis, Splenomegaly, Hepatic failure, Cirrhosis, Hepatosplenomegaly, ... |
OMIM:278000 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hepatomegaly, Lymphocytosis, Splenomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia, M... |
OMIM:614470 |
Trisomy 13 |
|
Atrial septal defect, Abnormal retinal vascular morphology, Abnormality of the ureter, Multiple r... |
ORPHA:3378 |
Distal Monosomy 13Q |
|
Optic atrophy, Abnormal cardiac septum morphology, Ambiguous genitalia, Iris coloboma |
ORPHA:1590 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Hepatomegaly, Micronodular cirrhosis, Jaundice, Splenomegaly, Malformation of the hepatic ductal ... |
OMIM:619849 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Renal tubular dysfunction, Decreased liver function, Hepatomegaly, Aminoaciduria, Glycosuria, Pig... |
ORPHA:436271 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Periportal fibrosis, Absence of renal corticomedullary differentiation, Splenomegal... |
OMIM:263200 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Optic nerve hypoplasia, Peripheral axonal neuropathy, Optic atrophy, 3-Methylglutaconic aciduria,... |
ORPHA:496790 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Optic atrophy, Hypertrophic cardiomyopathy, Hepatomegaly |
ORPHA:79279 |
Cerebellar Ataxia-Hypogonadism Syndrome |
|
Abnormality of retinal pigmentation, Supernumerary nipple, Hypogonadotropic hypogonadism, Optic a... |
ORPHA:1173 |
Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy |
ORPHA:66661 |
Alpha-1-Antitrypsin Deficiency |
|
Cirrhosis, Hepatocellular carcinoma, Elevated hepatic transaminase, Splenomegaly |
OMIM:613490 |
Retinitis Pigmentosa 10 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Geographic atrophy, Optic disc pallor, ... |
OMIM:180105 |
Juvenile Sialidosis Type 2 |
|
Hepatomegaly, Cherry red spot of the macula, Hepatosplenomegaly, Optic atrophy, Visceromegaly, Ab... |
ORPHA:93399 |
Rere-Related Neurodevelopmental Syndrome |
|
Hypospadias, Ventricular septal defect, Optic atrophy, Iris coloboma, Cryptorchidism, Vesicourete... |
ORPHA:494344 |
Immunodeficiency 69 |
|
Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytosis, Pancytopenia, Anemia |
OMIM:618963 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis... |
OMIM:615631 |
Zika Virus Disease |
|
Absent foveal reflex, Retinal pigment epithelial mottling, Chorioretinal atrophy, Iris coloboma, ... |
ORPHA:448237 |
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome |
|
Pancytopenia, Cone/cone-rod dystrophy, Splenomegaly |
OMIM:614979 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Ketonuria, Hepatomegaly, Hepatic failure, Optic atrophy, Elevated circulating alanine aminotransf... |
OMIM:261680 |
Portal Hypertension, Noncirrhotic, 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:617068 |
Red Cell Phospholipid Defect With Hemolysis |
|
Reticulocytosis, Intermittent jaundice, Splenomegaly |
OMIM:179700 |
Mucopolysaccharidosis-Plus Syndrome |
|
Nephrotic syndrome, Atrial septal defect, Nephritis, Hepatomegaly, Splenomegaly, Leukopenia, Chor... |
OMIM:617303 |
Retinitis Pigmentosa 41 |
|
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Pigmentary retino... |
OMIM:612095 |
Niemann-Pick Disease, Type A |
|
Sea-blue histiocytosis, Hepatomegaly, Cherry red spot of the macula, Splenomegaly, Elevated circu... |
OMIM:257200 |
Cone-Rod Dystrophy 3 |
|
Attenuation of retinal blood vessels, Pigmentary retinopathy, Cone/cone-rod dystrophy, Optic disc... |
OMIM:604116 |
Zellweger Syndrome |
|
Hepatomegaly, Hepatic failure, Hypospadias, Multicystic kidney dysplasia, Abnormal chorioretinal ... |
ORPHA:912 |
3C Syndrome |
|
Abnormal mitral valve morphology, Atrial septal defect, Hypoplasia of penis, Aortic valve stenosi... |
ORPHA:7 |
Hepatoportal Sclerosis |
|
Intrahepatic portal vein sclerosis, Abnormality of the hepatic vasculature, Periportal fibrosis, ... |
ORPHA:64743 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Hepatic failure, Splenomegaly, Cirrhosis, Jaundice |
ORPHA:75234 |
Beta-Thalassemia Intermedia |
|
Cholelithiasis, Anemia of inadequate production, Decreased mean corpuscular volume, Abnormality o... |
ORPHA:231222 |
Neonatal Adrenoleukodystrophy |
|
Optic atrophy, Abnormality of retinal pigmentation, Abnormality of the liver |
ORPHA:44 |
Gaucher Disease, Type I |
|
Aortic valve stenosis, Hepatomegaly, Splenomegaly, Macular atrophy, Pancytopenia, Anemia, Thrombo... |
OMIM:230800 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Myeloproliferative disorder, Thrombocytopenia, Abnormal... |
ORPHA:3226 |
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Optic atrophy, Microcytic anemia, Hepatomegaly, Neutropenia |
OMIM:251900 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Circulating nucleated red blood cells, Anemia of inadequate production, Hepatomegaly, Micropenis,... |
OMIM:613673 |
Distal Monosomy 7Q36 |
|
Optic atrophy, Cryptorchidism, Hypoplasia of penis |
ORPHA:1636 |
Leber Congenital Amaurosis |
|
Abnormality of retinal pigmentation, Abnormal optic disc morphology |
ORPHA:65 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatocellular necrosis, Hepatomegaly, Micronodular cirrhosis, Periportal fibrosis, Splenomegaly,... |
OMIM:251880 |
Optic Pathway Glioma |
|
Optic atrophy, Neurofibromas, Precocious puberty, Papilledema |
ORPHA:2086 |
Adult Krabbe Disease |
|
Broad-based gait, Ataxia, EEG abnormality, Gait disturbance, Prolonged brainstem auditory evoked ... |
ORPHA:206448 |
Pagod Syndrome |
|
Hypoplastic left heart, Agonadism, Multicystic kidney dysplasia, Abnormality of the spleen, Situs... |
ORPHA:991 |
Retinitis Pigmentosa 58 |
|
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor... |
OMIM:613617 |
Myopathy With Extrapyramidal Signs |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Peripheral axonal neuropathy, Ventricular septal defect... |
OMIM:615673 |
Peroxisome Biogenesis Disorder 1B |
|
Hepatomegaly, Rod-cone dystrophy, Cirrhosis, Optic atrophy, Renal cyst, Hepatic fibrosis, Hyperox... |
OMIM:601539 |
Posterior Column Ataxia With Retinitis Pigmentosa |
|
Decreased sensory nerve conduction velocity, Rod-cone dystrophy, Attenuation of retinal blood ves... |
OMIM:609033 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Renal tubular dysfunction, Decreased liver function, Hepatomegaly, Aminoaciduria, Glycosuria, Pig... |
OMIM:220110 |
Caroli Disease |
|
Cholelithiasis, Cholangiocarcinoma, Hepatomegaly, Leukocytosis, Splenomegaly, Cirrhosis, Cholesta... |
ORPHA:53035 |
Acrocraniofacial Dysostosis |
|
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal auditory evoked potentials |
OMIM:201050 |
Osteopetrosis, Autosomal Recessive 2 |
|
Cranial nerve compression, Extramedullary hematopoiesis, Hepatosplenomegaly, Facial paralysis, Op... |
OMIM:259710 |
Harderoporphyria |
|
Hepatomegaly, Prolonged neonatal jaundice, Splenomegaly, Increased urinary porphobilinogen, Hemol... |
OMIM:618892 |
Acquired Idiopathic Sideroblastic Anemia |
|
Anemia of inadequate production, Granulocytopenia, Hepatomegaly, Neutropenia, Leukocytosis, Splen... |
ORPHA:75564 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
Ventricular septal defect, Optic atrophy, Cryptorchidism, Patent foramen ovale |
OMIM:613457 |
Null Syndrome |
|
Optic atrophy, Abnormality of peripheral nerve conduction, Decreased nerve conduction velocity, P... |
ORPHA:280234 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Elevated hepatic transaminase, Hepatitis,... |
OMIM:613812 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Ketonuria, Hepatomegaly, Left ventricular hypertrophy, Left ventricular noncompaction, Optic disc... |
OMIM:619167 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Coombs-positive hemolytic anemia, Splenomegaly, Autoimmune thrombocytopenia, Decrea... |
OMIM:619375 |
Microcephaly-Capillary Malformation Syndrome |
|
Atrial septal defect, Right ventricular hypertrophy, Ventricular septal defect, Optic atrophy, Pa... |
OMIM:614261 |
Neonatal Lupus Erythematosus |
|
Neutropenia, Hepatomegaly, Splenomegaly, Hepatic failure, Aplastic anemia, Hemolytic anemia, Elev... |
ORPHA:398124 |
Joubert Syndrome With Hepatic Defect |
|
Neoplasm of the liver, Hepatomegaly, Intrahepatic biliary atresia, Splenomegaly, Cirrhosis, Multi... |
ORPHA:1454 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Sensorineural hearing impairment, Optic disc pallor, Ataxia, Abnormal auditory evoked potentials |
OMIM:619260 |
Charcot-Marie-Tooth Disease Type 1F |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Inability to walk, Decreas... |
ORPHA:101085 |
Multiple Sulfatase Deficiency |
|
Abnormality of retinal pigmentation, Hepatomegaly, Splenomegaly, Optic atrophy, Mucopolysaccharid... |
ORPHA:585 |
Congenital Sialidosis Type 2 |
|
Hepatomegaly, Cherry red spot of the macula, Hepatosplenomegaly, Yellow/white lesions of the reti... |
ORPHA:93400 |
Retinitis Pigmentosa 46 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:612572 |
Von Hippel-Lindau Disease |
|
Neoplasm of the pancreas, Hypertensive retinopathy, Elevated urinary catecholamines, Papilledema,... |
ORPHA:892 |
Immunodeficiency 64 |
|
Splenomegaly, Cervical lymphadenopathy, Increased proportion autoreactive unresponsive CD21-/low ... |
OMIM:618534 |
Cach Syndrome |
|
Optic neuritis, Pancreatitis, Hepatosplenomegaly, Gonadal dysgenesis, Optic atrophy, Renal hypopl... |
ORPHA:135 |
Follicular Lymphoma |
|
Abnormality of the peritoneum, Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly |
ORPHA:545 |
Cinca Syndrome |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Pseudopapilledema, Abnormal granulocyte morphology, Abn... |
ORPHA:1451 |
Meacham Syndrome |
|
Abnormal vagina morphology, Anomalous pulmonary venous return, Atrial septal defect, Hypoplasia o... |
ORPHA:3097 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:610293 |
Mitochondrial Complex I Deficiency, Nuclear Type 27 |
|
Optic atrophy, Neurogenic bladder |
OMIM:618248 |
Portal Hypertension, Noncirrhotic, 2 |
|
Hepatomegaly, Splenomegaly, Hepatocellular carcinoma, Nodular regenerative hyperplasia of liver, ... |
OMIM:619463 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Sensorineural hearing impairment, Ataxia, Abnormal autonomic nervous system physiology, Dysmetria... |
ORPHA:99027 |
Muckle-Wells Syndrome |
|
Nephrotic syndrome, Hepatomegaly, Splenomegaly, Nephropathy, Optic atrophy, Anemia |
ORPHA:575 |
Retinitis Pigmentosa 25 |
|
Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood vessels, Optic disc pallo... |
OMIM:602772 |
Hsd10 Disease, Infantile Type |
|
Retinal degeneration, Abnormal concentration of acylcarnitine in the urine, Rod-cone dystrophy, O... |
ORPHA:391428 |
Tangier Disease |
|
Facial diplegia, Hepatomegaly, Splenomegaly, Left ventricular hypertrophy, Peripheral axonal neur... |
OMIM:205400 |
Retinitis Pigmentosa 49 |
|
Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of retinal blood vessels,... |
OMIM:613756 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:109120 |
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium |
|
Retinal vascular tortuosity, Abnormal optic disc morphology, Vitreoretinopathy |
ORPHA:440727 |
Dpm1-Cdg |
|
Hepatomegaly, External genital hypoplasia, Retinopathy, Hepatosplenomegaly, Optic atrophy, Elevat... |
ORPHA:79322 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Cholelithiasis, Papilledema, Thrombocytopenia, Ventricular septal defect, Normochromic anemia, Hy... |
OMIM:618775 |
Refsum Disease |
|
Abnormality of retinal pigmentation, Splenomegaly, Retinopathy, Renal insufficiency, Cardiomyopathy |
ORPHA:773 |
Retinitis Pigmentosa 56 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Retinal pigment... |
OMIM:613581 |
Papilloma Of Choroid Plexus |
|
Papilledema |
OMIM:260500 |
Leber Congenital Amaurosis 15 |
|
Retinal degeneration, Rod-cone dystrophy, Retinopathy, Pigmentary retinopathy, Optic disc pallor |
OMIM:613843 |
Farber Lipogranulomatosis |
|
Hepatomegaly, Lipogranulomatosis, Cherry red spot of the macula, Splenomegaly |
OMIM:228000 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Increased hepatic glycogen content, Optic atrophy, 3-Methylglutaconic aciduria, Cardiomyopathy, C... |
OMIM:619259 |
Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Splenomegaly, Heparan sulfate excretion in urine, Asymmetric septal hypertrophy, Ca... |
OMIM:252920 |
Mucopolysaccharidosis, Type Ii |
|
Abnormality of retinal pigmentation, Hepatomegaly, Splenomegaly, Papilledema, Hepatosplenomegaly,... |
OMIM:309900 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Splenomegaly, Anemia, Anisocytosis, Poikilocytosis, Congenital hemolytic anemia, Chronic hemolyti... |
ORPHA:766 |
Autoimmune Lymphoproliferative Syndrome |
|
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Coombs-positive hemolytic ane... |
OMIM:601859 |
Hardikar Syndrome |
|
Hepatomegaly, Hepatic failure, Bladder exstrophy, Cholestasis, Ventricular septal defect, Prolong... |
OMIM:301068 |
Glycogen Storage Disease Ixc |
|
Hepatomegaly, Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Elevated hepatic trans... |
OMIM:613027 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Photoreceptor layer loss on macular OCT, Decreased mean corpuscular volume, Anisocytosis, Retinal... |
OMIM:616959 |
Triple A Syndrome |
|
Optic atrophy, Motor axonal neuropathy, Iris coloboma, Anterior hypopituitarism |
ORPHA:869 |
Congenital Pulmonary Lymphangiectasia |
|
Chylopericardium, Hepatomegaly, Splenomegaly, Pulmonic stenosis, Ascites |
ORPHA:2414 |
Facial Dysmorphism-Macrocephaly-Myopia-Dandy-Walker Malformation Syndrome |
|
Optic atrophy, Cryptorchidism, Fundus atrophy, Small scrotum |
ORPHA:1970 |
Erythrocytosis, Familial, 8 |
|
Cholelithiasis, Nonspherocytic hemolytic anemia, Splenomegaly, Polycythemia, Normocytic anemia, C... |
OMIM:222800 |
Retinitis Pigmentosa 72 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigment... |
OMIM:616469 |
Joubert Syndrome 28 |
|
Optic disc pallor, Pigmentary retinopathy |
OMIM:617121 |
Mogs-Cdg |
|
Hydrocele testis, Absent brainstem auditory responses, Atrial septal defect, Hepatomegaly, Extern... |
ORPHA:79330 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatomegaly, Splenomegaly, Micropenis, Pulmonary lymphangiectasia, Hepatosplenomegaly, Hepatic f... |
ORPHA:1655 |
Schindler Disease, Type I |
|
Optic atrophy, Increased urinary O-linked sialopeptides |
OMIM:609241 |
Gaucher Disease Type 1 |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Leukopenia, Hematuria, Thrombocytopenia, Biliary tract obs... |
ORPHA:77259 |
Meckel Syndrome |
|
Urethral atresia, Pancreatic fibrosis, Male pseudohermaphroditism, Multicystic kidney dysplasia, ... |
ORPHA:564 |
Carpenter Syndrome 1 |
|
Precocious puberty, Atrial septal defect, External genital hypoplasia, Pulmonic stenosis, Hydrour... |
OMIM:201000 |
Amish Lethal Microcephaly |
|
Organic aciduria, Optic atrophy, Hepatomegaly |
ORPHA:99742 |
Mucopolysaccharidosis, Type Iiic |
|
Hepatomegaly, Rod-cone dystrophy, Splenomegaly, Heparan sulfate excretion in urine, Asymmetric se... |
OMIM:252930 |
Amaurosis-Hypertrichosis Syndrome |
|
Optic atrophy, Cone/cone-rod dystrophy, Retinal dystrophy |
ORPHA:1021 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Cholangiocarcinoma, Testicular atrophy, Hepatomegaly, Splenomegaly, Cirrhosis, Hypogonadotropic h... |
ORPHA:465508 |
Hb Bart'S Hydrops Fetalis |
|
Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Pericarditis, Anemia |
ORPHA:163596 |
Chops Syndrome |
|
Anomalous pulmonary venous return, Splenomegaly, Ventricular septal defect, Optic atrophy, Horses... |
OMIM:616368 |
Wildervanck Syndrome |
|
Pseudopapilledema |
OMIM:314600 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Cholelithiasis, Nonspherocytic hemolytic anemia, Splenomegaly, Spontaneous hemolytic crises, Impa... |
OMIM:613470 |
Retinitis Pigmentosa 43 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Optic disc pall... |
OMIM:613810 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Renal tubular acidosis, Splenomegaly, Cirrhosis, Myoglobinuria, Abnormal erythrocyt... |
ORPHA:264580 |
Glycogen Storage Disease Ib |
|
Nephrolithiasis, Pancreatitis, Hepatomegaly, Decreased glomerular filtration rate, Splenomegaly, ... |
OMIM:232220 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Cholelithiasis, Nonspherocytic hemolytic anemia, Splenomegaly, Normocytic anemia, Cholecystitis, ... |
OMIM:235700 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hepatomegaly, Splenomegaly, Micropenis, Pulmonary lymphangiectasia, Hepatic failure, Ventricular ... |
OMIM:235255 |
Adult-Onset Still Disease |
|
Hepatomegaly, Neutrophilia, Leukocytosis, Splenomegaly, Myocarditis, Generalized lymphadenopathy,... |
ORPHA:829 |
Chromosome Xp11.3 Deletion Syndrome |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Optic atrophy, ... |
OMIM:300578 |
Mevalonic Aciduria |
|
Fluctuating hepatomegaly, Fluctuating splenomegaly, Leukocytosis, Normocytic hypoplastic anemia, ... |
OMIM:610377 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Cholelithiasis, Hepatomegaly, Splenomegaly, Decreased hemoglobin concentration, Cholecystitis, Ch... |
OMIM:266200 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Cholelithiasis, Hepatomegaly, Splenomegaly, Hemoglobinuria, Increased red cell hemolysis by shear... |
OMIM:194380 |
Filippi Syndrome |
|
Ventricular septal defect, Optic atrophy, Cryptorchidism, Supernumerary nipple |
ORPHA:3255 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia |
ORPHA:231401 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Aminoaciduria, Rod-cone dystrophy, Splenomegaly, Schistocytosis, B lymphocytopenia, Hypochromic m... |
OMIM:616084 |
Gm1-Gangliosidosis, Type I |
|
Hepatomegaly, Vacuolated lymphocytes, Cherry red spot of the macula, Splenomegaly, Dilated cardio... |
OMIM:230500 |
Ornithine Transcarbamylase Deficiency |
|
Hepatic failure, Aminoaciduria, Splenomegaly |
ORPHA:664 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Decreased liver function, Chorioretinal hyperpigmentation, Macrovesicular hepatic steatosis, Opti... |
OMIM:618329 |
Vici Syndrome |
|
Abnormality of retinal pigmentation, Renal tubular acidosis, Abnormal macular morphology, Optic a... |
ORPHA:1493 |
Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Aplastic anemia, Pancytopenia, ... |
OMIM:615122 |
Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Splenomegaly, Leukopenia, Autoimmune thrombocytopenia, Thrombocytopenia, Decreased ... |
OMIM:613011 |
Micro Syndrome |
|
Abnormality of retinal pigmentation, Hypoplasia of penis, Retinal coloboma, Clitoral hypoplasia, ... |
ORPHA:2510 |
Peroxisome Biogenesis Disorder 4B |
|
Decreased liver function, Hepatomegaly, Decreased nerve conduction velocity, Rod-cone dystrophy, ... |
OMIM:614863 |
Warburg Micro Syndrome 4 |
|
Micropenis, Decreased motor nerve conduction velocity, Optic atrophy, Decreased testicular size, ... |
OMIM:615663 |
Osteopetrosis, Autosomal Recessive 1 |
|
Hepatomegaly, Splenomegaly, Facial palsy, Facial paralysis, Optic atrophy, Pancytopenia, Anemia, ... |
OMIM:259700 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Nephrotic syndrome, Hepatomegaly, Nephritis, Coombs-positive hemolytic anemia, Splenomegaly, Neut... |
OMIM:603909 |
Osteopetrosis, Autosomal Dominant 3 |
|
Hyperparathyroidism, Anemia, Hepatomegaly, Splenomegaly |
OMIM:618107 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Giant cell hepatitis, Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Elevated hepatic tr... |
OMIM:607765 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Cholelithiasis, Hepatomegaly, Splenomegaly, Cirrhosis, Jaundice, Intrahepatic cholestasis with ep... |
OMIM:211600 |
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome |
|
Congenital stationary night blindness, Micropenis, Hypogonadotropic hypogonadism, Microcytic anem... |
ORPHA:293967 |
Walker-Warburg Syndrome |
|
Hypoplasia of penis, Retinal detachment, Retinal dystrophy, Optic atrophy, Iris coloboma, Chorior... |
ORPHA:899 |
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Hepatomegaly, Splenomegaly, Cholestasis, Portal hypertension, Jaundice |
ORPHA:59303 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Exocrine pancreatic insufficiency, Cholestatic liver disease, Hepatomegaly, Microvesicular hepati... |
OMIM:619418 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Abnormality of the lymph ... |
OMIM:612840 |
Severe Early-Childhood-Onset Retinal Dystrophy |
|
Granular macular appearance, Abnormality of retinal pigmentation, Retinal degeneration, Rhegmatog... |
ORPHA:364055 |
Hemoglobin E Disease |
|
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... |
ORPHA:2133 |
Juvenile Glaucoma |
|
Optic neuropathy, Increased cup-to-disc ratio, Temporal optic disc pallor, Retinal arterial occlu... |
ORPHA:98977 |
Cold Agglutinin Disease |
|
Abnormal urinary color, Hepatomegaly, Splenomegaly, Hemolytic anemia, Lymphadenopathy |
ORPHA:56425 |
Wilson Disease |
|
Hepatomegaly, Acute hepatitis, Splenomegaly, Acute hepatic failure, Cirrhosis, Thrombocytopenia, ... |
ORPHA:905 |
Infantile Liver Failure Syndrome 3 |
|
Hepatomegaly, Splenomegaly, Acute hepatic failure, Cholestasis, Elevated hepatic transaminase, He... |
OMIM:618641 |
Retinitis Pigmentosa 14 |
|
Bone spicule pigmentation of the retina, Optic disc pallor, Retinal arteriolar constriction, Rod-... |
OMIM:600132 |
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Atrial septal defect, Ventricular septal defect, Optic atrophy, Hydronephrosis, Cryptorchidism |
ORPHA:457193 |
Joubert Syndrome 8 |
|
Optic disc pallor, Hepatomegaly, Pigmentary retinopathy, Prolonged neonatal jaundice |
OMIM:612291 |
Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline |
|
Optic atrophy, Prolonged neonatal jaundice, Urinary incontinence |
OMIM:618868 |
Metachromatic Leukodystrophy |
|
Gallbladder dysfunction, Decreased nerve conduction velocity, Cholecystitis, Optic atrophy, Perip... |
OMIM:250100 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Intrahepatic cholestasis, Interm... |
OMIM:601847 |
Triosephosphate Isomerase Deficiency |
|
Cholelithiasis, Splenomegaly, Normocytic anemia, Macrocytic anemia, Cholecystitis, Optic disc pal... |
OMIM:615512 |
Omenn Syndrome |
|
Hepatomegaly, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lymphocytopenia, B l... |
OMIM:603554 |
Kaposiform Lymphangiomatosis |
|
Lymphangioma, Pancreatic cysts, Splenomegaly, Abnormal spleen morphology, Hepatosplenomegaly, Mul... |
ORPHA:464329 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Rod-cone dystrophy, Glycosuria, Renal Fanconi syndrome, Optic atrophy, Optic disc pallor, Bone sp... |
OMIM:268315 |
Opticocochleodentate Degeneration |
|
Optic atrophy |
OMIM:258700 |
Aniridia 2 |
|
Optic atrophy, Iris coloboma, Aniridia |
OMIM:617141 |
Legionnaires Disease |
|
Pancreatitis, Lymphopenia, Splenomegaly, Endocarditis, Hematuria, Myocarditis, Hepatitis, Renal i... |
ORPHA:549 |
Dominant Beta-Thalassemia |
|
Hypoparathyroidism, Decreased mean corpuscular volume, Splenomegaly, Extramedullary hematopoiesis... |
ORPHA:231226 |
Primary Lipodystrophy |
|
Pancreatitis, Splenomegaly, Cirrhosis, Polycystic ovaries, Hepatic steatosis, Cardiomyopathy |
ORPHA:90970 |
Hyper-Igd Syndrome |
|
Neutrophilia, Rod-cone dystrophy, Splenomegaly, Leukocytosis, Renal angiomyolipoma, Lymphadenitis... |
OMIM:260920 |
American Trypanosomiasis |
|
Hepatomegaly, Aganglionic megacolon, Splenomegaly, Myocarditis, Lymphadenopathy, Cardiomyopathy |
ORPHA:3386 |
Isolated Biliary Atresia |
|
Decreased liver function, Dark yellow urine, Hepatomegaly, Periportal fibrosis, Splenomegaly, Cir... |
ORPHA:30391 |
Congenital Hypothyroidism |
|
Nephrolithiasis, Prolonged neonatal jaundice, Abnormal pericardium morphology, Thyroid dysgenesis... |
ORPHA:442 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular volume, Hepatomegaly, Splenomegaly, Anisopoikilocytosis, Acanthocytosi... |
OMIM:616689 |
Budd-Chiari Syndrome |
|
Hepatomegaly, Splenomegaly, Acute hepatic failure, Cirrhosis, Peritonitis, Cholecystitis, Elevate... |
ORPHA:131 |
Primary Myelofibrosis |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Hepatosplenomegaly, Throm... |
ORPHA:824 |
Alpha-Mannosidosis, Adult Form |
|
Optic disc pallor, Hepatosplenomegaly, Oligosacchariduria, Pancytopenia |
ORPHA:309288 |
Mcleod Syndrome |
|
Hepatomegaly, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, Acanth... |
OMIM:300842 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Pericarditis, Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:85414 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Histiocytosis, Atrial septal defect, Hepatomegaly, Decreased response to growth hormone stimulati... |
OMIM:602782 |
Primary Hyperoxaluria |
|
Chronic kidney disease, Calcium oxalate nephrolithiasis, Retinopathy, Hematuria, Hypercalciuria, ... |
ORPHA:416 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Lymphopenia, Hepatomegaly, Splenomegaly, Aplasia of the thymus, Abnormally low T cell receptor ex... |
OMIM:602450 |
Beta-Thalassemia Major |
|
Hypoparathyroidism, Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomeg... |
ORPHA:231214 |
Syndromic Diarrhea |
|
Bicuspid aortic valve, Atrial septal defect, Hepatomegaly, Hepatoblastoma, Splenomegaly, Lymphope... |
ORPHA:84064 |
Autoimmune Hepatitis |
|
Viral hepatitis, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Sclerosing cholangitis, Fulmi... |
ORPHA:2137 |
Warburg Micro Syndrome 2 |
|
Small scrotum, Micropenis, Optic atrophy, Cryptorchidism, Hypoplastic labia majora |
OMIM:614225 |
Cryoglobulinemic Vasculitis |
|
Hepatomegaly, Viral hepatitis, Splenomegaly, Mediastinal lymphadenopathy, Hematuria, Renal insuff... |
ORPHA:91138 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Bicuspid aortic valve, Exocrine pancreatic insufficiency, Atrioventricular canal defect, Retinal ... |
ORPHA:508498 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Hypoparathyroidism, Chronic kidney disease, Nephrotic syndrome, Proximal renal tubular acidosis, ... |
OMIM:146255 |
Multiple Sulfatase Deficiency |
|
Hepatomegaly, Retinal degeneration, Splenomegaly, Mucopolysacchariduria, Peripheral demyelination |
OMIM:272200 |
Spherocytosis, Type 1 |
|
Cholelithiasis, Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis, Jaundice |
OMIM:182900 |
Pearson Syndrome |
|
Exocrine pancreatic insufficiency, Hepatomegaly, Hepatic failure, Glycosuria, Proteinuria, Hypopl... |
ORPHA:699 |
Hereditary Spherocytosis |
|
Cholelithiasis, Hepatomegaly, Spherocytosis, Splenomegaly, Restrictive cardiomyopathy, Extramedul... |
ORPHA:822 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Papilledema, Prematur... |
ORPHA:371428 |
Cleft Palate, Proliferative Retinopathy, And Developmental Delay |
|
Retinal neovascularization |
OMIM:619074 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Lymphadenitis, Cholestasis, Elevated hepatic transamina... |
OMIM:615895 |
Jacobsen Syndrome |
|
Annular pancreas, Labial hypoplasia, Atrial septal defect, Hypospadias, Clitoral hypoplasia, Vent... |
OMIM:147791 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Hepatomegaly, Hepatic failure, Splenomegaly, Elevated hepatic transaminase, Intrahepatic cholesta... |
OMIM:235555 |
Mucopolysaccharidosis Type 1 |
|
Splenomegaly, Retinopathy, Abnormal aortic valve morphology, Optic atrophy, Abnormality of the to... |
ORPHA:579 |
Spastic Paraplegia Type 2 |
|
Optic atrophy, Spastic/hyperactive bladder |
ORPHA:99015 |
Jalili Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:1873 |
Arthrogryposis, Distal, Type 2A |
|
Hearing impairment, Abnormal auditory evoked potentials |
OMIM:193700 |
Spherocytosis, Type 5 |
|
Spherocytosis, Abnormal leukocyte count, Splenomegaly, Hemolytic anemia, Abnormal platelet count,... |
OMIM:612690 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Nephrotic syndrome, Atrial septal defect, Abnormality of retinal pigmentation, Hepatosplenomegaly... |
ORPHA:505248 |
Griscelli Syndrome Type 2 |
|
Neutropenia, Hepatomegaly, Hemophagocytosis, Splenomegaly, Pancytopenia, Lymphadenopathy, Jaundice |
ORPHA:79477 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Hepatomegaly, Aminoaciduria, Hypospadias, Pigmentary retinopathy, Ventricular septal defect, Opti... |
OMIM:214100 |
Q Fever |
|
Hepatomegaly, Splenomegaly, Anemia, Hepatosplenomegaly, Endocarditis, Hematuria, Myocarditis, Cho... |
ORPHA:781 |
Tetraamelia-Multiple Malformations Syndrome |
|
Multicystic kidney dysplasia, Optic atrophy, Iris coloboma, Septo-optic dysplasia, Vaginal atresi... |
ORPHA:3301 |
Leber Optic Atrophy |
|
Optic atrophy, Optic neuropathy, Central retinal vessel vascular tortuosity, Leber optic atrophy |
OMIM:535000 |
Apolipoprotein C-Ii Deficiency |
|
Splenomegaly, Pancreatitis, Hepatomegaly, Lipemia retinalis |
OMIM:207750 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Secundum atrial septal defect, Hepatomegaly, Lymphopenia, Splenomegaly, Pulmonic stenosis, Crypto... |
OMIM:612541 |
Cockayne Syndrome Type 1 |
|