Leber Hereditary Optic Neuropathy, Modifier Of |
|
Optic atrophy, Leber optic atrophy |
OMIM:308905 |
Glycine N-Methyltransferase Deficiency |
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Hepatomegaly, Elevated circulating hepatic transaminase concentration |
OMIM:606664 |
Combined Oxidative Phosphorylation Deficiency 38 |
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Failure to thrive, Decreased activity of mitochondrial ATP synthase complex, Decreased activity o... |
OMIM:618378 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
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Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Decreased activity o... |
OMIM:615158 |
Retinitis Pigmentosa 71 |
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Attenuation of retinal blood vessels, Optic disc drusen, Rod-cone dystrophy, Optic disc pallor, S... |
OMIM:616394 |
Retinitis Pigmentosa 36 |
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Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti... |
OMIM:610599 |
Auditory Neuropathy And Optic Atrophy |
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Optic atrophy, Rod-cone dystrophy |
OMIM:617717 |
Ceroid Lipofuscinosis, Neuronal, 9 |
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Optic atrophy, Vacuolated lymphocytes, Rod-cone dystrophy |
OMIM:609055 |
Optic Atrophy 13 With Retinal And Foveal Abnormalities |
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Optic atrophy, Attenuation of retinal blood vessels |
OMIM:165510 |
Optic Atrophy 9 |
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Optic atrophy, Optic disc pallor |
OMIM:616289 |
Glycogen Storage Disease Vi |
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Elevated circulating hepatic transaminase concentration, Hypoglycemia, Failure to thrive in infan... |
OMIM:232700 |
Friedreich Ataxia |
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Decreased pyruvate carboxylase activity, Diabetes mellitus, Mitochondrial malic enzyme reduced |
OMIM:229300 |
Leber Congenital Amaurosis 13 |
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Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... |
OMIM:612712 |
Optic Atrophy--Spastic Paraplegia Syndrome |
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Optic atrophy |
OMIM:311100 |
Methylmalonic Aciduria, Cblb Type |
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Hepatomegaly, Decreased methylmalonyl-CoA mutase activity, Failure to thrive, Hypoglycemia |
OMIM:251110 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
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Optic atrophy, Peripheral axonal neuropathy, Decreased number of large peripheral myelinated nerv... |
OMIM:617087 |
Barth Syndrome |
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Abnormal mitochondrial morphology |
ORPHA:111 |
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness |
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Optic atrophy |
OMIM:136600 |
Diarrhea 13 |
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Hepatic steatosis, Elevated circulating hepatic transaminase concentration, Failure to thrive, Re... |
OMIM:620357 |
Oxoglutaric Aciduria |
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Abnormality of Krebs cycle metabolism |
ORPHA:31 |
Fumarase Deficiency |
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Intrahepatic cholestasis, Hepatic failure, Failure to thrive, Mitochondrial swelling, Decreased f... |
OMIM:606812 |
Combined Oxidative Phosphorylation Deficiency 2 |
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Elevated circulating hepatic transaminase concentration, Decreased activity of mitochondrial ATP ... |
OMIM:610498 |
Hereditary Leiomyomatosis And Renal Cell Cancer |
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Decreased fumarate hydratase activity |
OMIM:150800 |
Liberfarb Syndrome |
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Retinal pigment epithelial mottling, Retinal degeneration, Bone spicule pigmentation of the retin... |
OMIM:618889 |
Hypertriglyceridemia, Transient Infantile |
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Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transami... |
OMIM:614480 |
Glaucoma 1, Open Angle, P |
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Increased cup-to-disc ratio |
OMIM:177700 |
Optic Atrophy 3, Autosomal Dominant |
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Optic atrophy, Optic disc pallor |
OMIM:165300 |
Methylmalonic Aciduria, Cbla Type |
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Hepatomegaly, Decreased methylmalonyl-CoA mutase activity, Failure to thrive |
OMIM:251100 |
Crigler-Najjar Syndrome, Type Ii |
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Reduced tissue UDP-glucuronyl-transferase activity, Jaundice, Elevated circulating hepatic transa... |
OMIM:606785 |
Mitochondrial Complex I Deficiency, Nuclear Type 30 |
|
Intrauterine growth retardation, Decreased activity of mitochondrial complex I, Neonatal death |
OMIM:301021 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
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Decreased methionine synthase activity, Decreased methylmalonyl-CoA mutase activity |
OMIM:277410 |
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
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Increased mitochondrial number |
ORPHA:457050 |
Combined Oxidative Phosphorylation Deficiency 40 |
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Hypoglycemia, Decreased liver function, Intrauterine growth retardation, Decreased activity of mi... |
OMIM:618835 |
Combined Oxidative Phosphorylation Deficiency 42 |
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Hypoglycemia, Decreased liver function, Intrauterine growth retardation, Decreased activity of mi... |
OMIM:618839 |
Combined Oxidative Phosphorylation Deficiency 19 |
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Elevated gamma-glutamyltransferase level, Failure to thrive, Mitochondrial swelling, Elevated cir... |
OMIM:615595 |
Hsd10 Mitochondrial Disease |
|
Hypoglycemia, Abnormal mitochondrial morphology |
OMIM:300438 |
Peripheral Cone Dystrophy |
|
Optic atrophy, Peripheral retinal degeneration, Optic disc pallor, Cone/cone-rod dystrophy |
OMIM:609021 |
Mitochondrial Dna-Associated Leigh Syndrome |
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Hepatomegaly, Hepatic failure, Abnormality of Krebs cycle metabolism, Failure to thrive |
ORPHA:255210 |
Wagner Vitreoretinopathy |
|
Peripheral tractional retinal detachment, Optic atrophy, Exudative vitreoretinopathy, Vitreoretin... |
OMIM:143200 |
Ocular Pigment Dispersion With Or Without Glaucoma |
|
Optic atrophy |
OMIM:600510 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
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Failure to thrive, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, I... |
OMIM:245400 |
Leber Congenital Amaurosis 19 |
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Optic disc pallor, Attenuation of retinal blood vessels, Retinal degeneration |
OMIM:618513 |
Retinitis Pigmentosa 30 |
|
Optic atrophy, Attenuation of retinal blood vessels, Chorioretinal atrophy, Bone spicule pigmenta... |
OMIM:607921 |
Retinitis Pigmentosa 57 |
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Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule pigmentation of the ret... |
OMIM:613582 |
Birdshot Chorioretinopathy |
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Abnormal chorioretinal morphology, Choroidal neovascularization, Retinal thinning, Epiretinal mem... |
ORPHA:179 |
Dna2-Related Mitochondrial Dna Deletion Syndrome |
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Slender build, Decreased mitochondrial number |
ORPHA:352470 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
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Decreased methylmalonyl-CoA mutase activity, Failure to thrive, Decreased methionine synthase act... |
OMIM:277400 |
Congenital Disorder Of Glycosylation, Type Iaa |
|
Optic disc pallor, Attenuation of retinal blood vessels, Scoliosis, Hypertrichosis |
OMIM:617082 |
Retinitis Pigmentosa 33 |
|
Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,... |
OMIM:610359 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
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Optic atrophy, Decreased motor nerve conduction velocity, Axonal degeneration/regeneration, Decre... |
OMIM:609260 |
Intracranial Hypertension, Idiopathic |
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Papilledema |
OMIM:243200 |
Congenital Bile Acid Synthesis Defect Type 1 |
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Elevated circulating hepatic transaminase concentration, Failure to thrive, Neonatal cholestatic ... |
ORPHA:79301 |
Spondylometaphyseal Dysplasia, Axial |
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Platyspondyly, Optic atrophy, Splenomegaly, Retinal degeneration, Cone/cone-rod dystrophy, Rod-co... |
OMIM:602271 |
Retinitis Pigmentosa 62 |
|
Attenuation of retinal blood vessels, Bull's eye maculopathy, Bone spicule pigmentation of the re... |
OMIM:614181 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
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Elevated circulating hepatic transaminase concentration, Failure to thrive in infancy, Decreased ... |
OMIM:619064 |
Retinitis Pigmentosa 11 |
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Macular edema, Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy,... |
OMIM:600138 |
Retinitis Pigmentosa 32 |
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Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal degeneration, Photoreceptor... |
OMIM:609913 |
Hepatitis, Fulminant Viral, Susceptibility To |
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Hepatic failure, Elevated circulating hepatic transaminase concentration, Type I diabetes mellitu... |
OMIM:618549 |
Optic Atrophy 12 |
|
Optic atrophy, Optic disc pallor |
OMIM:618977 |
Retinitis Pigmentosa 81 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... |
OMIM:617871 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
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Increased mitochondrial number, Decreased activity of mitochondrial complex IV |
OMIM:619063 |
Gilbert Syndrome |
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Jaundice, Hepatic failure, Elevated circulating hepatic transaminase concentration |
OMIM:143500 |
Retinitis Pigmentosa 95 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... |
OMIM:620102 |
Cone-Rod Dystrophy 16 |
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Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Beaten bronze macular sheen, Bone ... |
OMIM:614500 |
Retinitis Pigmentosa 50 |
|
Attenuation of retinal blood vessels, Retinal flecks, Retinal detachment, Rod-cone dystrophy, Opt... |
OMIM:613194 |
Optic Atrophy 15 |
|
Optic atrophy, Optic disc pallor |
OMIM:620583 |
Retinitis Pigmentosa 70 |
|
Macular degeneration, Attenuation of retinal blood vessels, Retinal degeneration, Rod-cone dystro... |
OMIM:615922 |
Combined Immunodeficiency, X-Linked |
|
Abnormal T cell count, Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-... |
OMIM:312863 |
Usher Syndrome, Type Iiib |
|
Optic disc pallor, Attenuation of retinal blood vessels, Bull's eye maculopathy |
OMIM:614504 |
Retinitis Pigmentosa 63 |
|
Optic disc pallor, Rod-cone dystrophy |
OMIM:614494 |
Cone-Rod Dystrophy 17 |
|
Optic disc pallor, Cone/cone-rod dystrophy |
OMIM:615163 |
Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Intrahepatic cholestasis, Periportal fibrosis, Elevated circulating hepatic transaminase concentr... |
OMIM:619484 |
Retinitis Pigmentosa 73 |
|
Epiretinal membrane, Peripapillary atrophy, Retinal atrophy, Bone spicule pigmentation of the ret... |
OMIM:616544 |
Night Blindness, Congenital Stationary, Type 1G |
|
Optic disc pallor, Rod-cone dystrophy, Congenital stationary night blindness |
OMIM:616389 |
Microphthalmia, Isolated 5 |
|
Foveoschisis, Cystoid macular edema, Optic disc drusen, Optic disc pallor, Bone spicule pigmentat... |
OMIM:611040 |
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome |
|
Optic atrophy, Sensory axonal neuropathy, Decreased nerve conduction velocity, Abnormal periphera... |
ORPHA:457205 |
Spastic Paraplegia, Optic Atrophy, And Dementia |
|
Optic atrophy, Optic disc pallor |
OMIM:182830 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... |
OMIM:235555 |
Irvan Syndrome |
|
Retinal exudate, Optic atrophy, Macular edema, Tractional retinal detachment, Vitreous floaters, ... |
ORPHA:209943 |
Retinitis Pigmentosa 26 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Rod-cone dystrophy |
OMIM:608380 |
Retinitis Pigmentosa 38 |
|
Optic disc pallor, Rod-cone dystrophy, Peripheral retinal atrophy, Macular atrophy |
OMIM:613862 |
Optic Atrophy 6 |
|
Optic atrophy, Retinal degeneration |
OMIM:258500 |
Immunodeficiency 52 |
|
Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell count, Decreased propor... |
OMIM:617514 |
Stt3B-Cdg |
|
Optic atrophy, Small scrotum, Cryptorchidism, Thrombocytopenia, Micropenis |
ORPHA:370924 |
Friedreich Ataxia 2 |
|
Decreased pyruvate carboxylase activity, Diabetic ketoacidosis, Mitochondrial malic enzyme reduced |
OMIM:601992 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
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Postprandial hyperglycemia, Elevated circulating hepatic transaminase concentration, Glycosuria, ... |
ORPHA:2089 |
Glycogen Storage Disease Ixc |
|
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Splenomegaly, Increased he... |
OMIM:613027 |
Neuronal Intranuclear Inclusion Disease |
|
Spina bifida occulta, Optic atrophy, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:2289 |
Benign Recurrent Intrahepatic Cholestasis |
|
Cholestatic liver disease, Cholelithiasis, Elevated circulating hepatic transaminase concentratio... |
ORPHA:65682 |
Facial Dysmorphism-Macrocephaly-Myopia-Dandy-Walker Malformation Syndrome |
|
Optic atrophy, Small scrotum, Thick eyebrow, Cryptorchidism, Hirsutism, Fundus atrophy, Scoliosis... |
ORPHA:1970 |
Retinitis Pigmentosa 28 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:606068 |
Low Phospholipid-Associated Cholelithiasis |
|
Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Elevated circulating hepatic transam... |
ORPHA:69663 |
Congenital Disorder Of Glycosylation, Type Ix |
|
Optic atrophy, Small scrotum, Cryptorchidism, Thrombocytopenia, Micropenis |
OMIM:615597 |
Cholestasis-Lymphedema Syndrome |
|
Elevated circulating hepatic transaminase concentration, Neonatal cholestatic liver disease, Sple... |
OMIM:214900 |
Leukodystrophy, Hypomyelinating, 21 |
|
Optic atrophy, Hypogonadotropic hypogonadism, Cryptorchidism |
OMIM:619310 |
Osteopetrosis, Autosomal Recessive 4 |
|
Optic atrophy, Sclerotic vertebral endplates, Splenomegaly, Reticulocytosis, Thrombocytopenia, An... |
OMIM:611490 |
Retinitis Pigmentosa 19 |
|
Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,... |
OMIM:601718 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Death in ... |
OMIM:611126 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Hepatic failure, Failure to thrive, Hypoglycemia, Elevated circulating aspartate aminotransferase... |
OMIM:617049 |
Spastic Paraplegia Type 7 |
|
Abnormal mitochondrial morphology |
ORPHA:99013 |
Retinitis Pigmentosa 88 |
|
Macular degeneration, Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule p... |
OMIM:618826 |
Cholestasis, Intrahepatic, Of Pregnancy, 1 |
|
Abnormal liver function tests during pregnancy, Intrahepatic cholestasis, Jaundice, Elevated circ... |
OMIM:147480 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Depletion of mitochondrial DNA in liver, Hepatic failure, Periportal fibrosis, Elevated circulati... |
OMIM:251880 |
Amaurosis-Hypertrichosis Syndrome |
|
Optic atrophy, Coarse hair, Thick eyebrow, Cone/cone-rod dystrophy, Abnormal eyelash morphology, ... |
ORPHA:1021 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatic failure, Failure to thrive, Hepatiti... |
OMIM:613812 |
Leber Congenital Amaurosis 4 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Macular atrophy, Cone/cone-rod dystrophy |
OMIM:604393 |
Combined Oxidative Phosphorylation Deficiency 18 |
|
Increased mitochondrial number, Intrauterine growth retardation, Decreased activity of mitochondr... |
OMIM:615578 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Hypereosinophilia, Abnormal B cell count, Abnormal proportion of CD8-positive T cells, Abnormal p... |
OMIM:212050 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Porta... |
OMIM:616278 |
Wildervanck Syndrome |
|
Pseudopapilledema, Low posterior hairline, Short neck, Facial palsy, Fused cervical vertebrae |
ORPHA:3456 |
Immunodeficiency 18 |
|
Reduced natural killer cell count, Lymphopenia, Abnormal B cell count, Decreased proportion of CD... |
OMIM:615615 |
Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Optic atrophy, Peripheral axonal neuropathy, Abnormal autonomic nervous system physiology, Scolio... |
OMIM:610743 |
Retinitis Pigmentosa 79 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... |
OMIM:617460 |
Familial Exudative Vitreoretinopathy |
|
Macular edema, Vitreoretinopathy, Subretinal fluid, Epiretinal membrane, Tractional retinal detac... |
ORPHA:891 |
Infantile-Onset Spinocerebellar Ataxia |
|
Optic atrophy, Abnormality of the autonomic nervous system |
ORPHA:1186 |
Portal Hypertension, Noncirrhotic, 1 |
|
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Portal hypertension, Splen... |
OMIM:617068 |
Glycogen Storage Disease Ixa1 |
|
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Splenomegaly, Hepatomegaly... |
OMIM:306000 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... |
OMIM:607765 |
Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome |
|
Optic atrophy, Retrobulbar optic neuritis, Abnormal leukocyte morphology |
ORPHA:3151 |
Leber Congenital Amaurosis 9 |
|
Optic atrophy, Retinal pigment epithelial mottling, Attenuation of retinal blood vessels, Retinal... |
OMIM:608553 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating hepatic transaminase concentration, Decreased circulating carnitine concentr... |
ORPHA:71212 |
Immunodeficiency 21 |
|
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt... |
OMIM:614172 |
Frontotemporal Dementia With Motor Neuron Disease |
|
Abnormal mitochondrial morphology |
ORPHA:275872 |
Central Retinal Vein Occlusion |
|
Pigmentary retinopathy, Macular degeneration, Macular edema, Retinal vascular tortuosity, Epireti... |
ORPHA:411527 |
Srd5A3-Cdg |
|
Optic atrophy, Optic disc hypoplasia, Hypertrichosis, Decreased response to growth hormone stimul... |
ORPHA:324737 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Abnormal nerve conduction velocity, Optic atrophy, Scoliosis, Kyphosis |
ORPHA:99014 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Elevated circulating hepatic transaminase concentration, Decreased circulating carnitine concentr... |
OMIM:201450 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... |
OMIM:214950 |
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1 |
|
Decreased activity of mitochondrial complex III, Mitochondrial hypertrophy, Decreased activity of... |
OMIM:500013 |
Gallbladder Disease 1 |
|
Hepatic fibrosis, Cholelithiasis, Elevated circulating hepatic transaminase concentration, Portal... |
OMIM:600803 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Elevated circulating hepatic transaminase concentration, Glycosuria, Large for gestational age, H... |
ORPHA:263455 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Elevated circulating hepatic transaminase concentration, Failure to thrive, Hypoglycemia, Acute h... |
OMIM:615453 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen... |
OMIM:600649 |
Usher Syndrome, Type 1M |
|
Optic disc pallor, Drusen |
OMIM:618632 |
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities |
|
Optic disc pallor, Retinal dystrophy |
OMIM:616079 |
Macular Dystrophy With Central Cone Involvement |
|
Optic disc pallor, Perifoveal ring of hyperautofluorescence, Bull's eye maculopathy, Macular dyst... |
OMIM:616170 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Intrahepatic cholestasis, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic ... |
OMIM:602347 |
Retinitis Pigmentosa 1 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... |
OMIM:180100 |
Liver Failure, Infantile, Transient |
|
Elevated circulating hepatic transaminase concentration, Acute hepatic failure, Mitochondrial res... |
OMIM:613070 |
Wildervanck Syndrome |
|
Pseudopapilledema, Fused cervical vertebrae |
OMIM:314600 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Optic atrophy, Sideroblastic anemia, Cryptorchidism, Thiamine-responsive megaloblastic anemia, Re... |
OMIM:249270 |
Immunodeficiency 112 |
|
Reduced natural killer cell count, Increased T cell count, Decreased proportion of class-switched... |
OMIM:620449 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, I... |
ORPHA:79303 |
Immunodeficiency 105 |
|
Reduced natural killer cell count, Lymphopenia, Hepatosplenomegaly, Pancytopenia, Impaired lympho... |
OMIM:619924 |
Cone-Rod Dystrophy, X-Linked, 3 |
|
Abnormality of macular pigmentation, Cone/cone-rod dystrophy, Retinal detachment, Optic disc pall... |
OMIM:300476 |
Blue Diaper Syndrome |
|
Increased body weight, Increased proinsulin:insulin ratio, Elevated circulating hepatic transamin... |
ORPHA:94086 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Optic atrophy, Sensory axonal neuropathy, Motor axonal neuropathy, Optic disc pallor, Scoliosis, ... |
OMIM:609541 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Macular edema, Peripheral retinal atrophy, Leukopenia, Epiretinal membrane, Attenuation of retina... |
OMIM:616959 |
Isolated Biliary Atresia |
|
Elevated gamma-glutamyltransferase level, Periportal fibrosis, Elevated circulating hepatic trans... |
ORPHA:30391 |
Infantile Liver Failure Syndrome 2 |
|
Acute hepatic failure, Jaundice, Elevated circulating hepatic transaminase concentration, Hypogly... |
OMIM:616483 |
Optic Atrophy 14 |
|
Optic disc pallor |
OMIM:620550 |
Optic Atrophy 5 |
|
Optic atrophy, Optic disc pallor |
OMIM:610708 |
Biliary Atresia, Extrahepatic |
|
Portal fibrosis, Elevated circulating hepatic transaminase concentration, Atretic gallbladder, Ci... |
OMIM:210500 |
Corpus Callosum, Agenesis Of, With Abnormal Genitalia |
|
Optic atrophy, Hypospadias, Cryptorchidism, Low anterior hairline, Hirsutism, Scoliosis, Synophrys |
OMIM:300004 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen... |
ORPHA:99901 |
Cerebellar Ataxia-Hypogonadism Syndrome |
|
Optic atrophy, Supernumerary nipple, Hypogonadism, Abnormality of retinal pigmentation, Hypogonad... |
ORPHA:1173 |
Retinitis Pigmentosa 12 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... |
OMIM:600105 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Type II diabetes mel... |
OMIM:616860 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Abnormal mitochondrial shape, Elevated circulating hepatic transaminase concentration, Failure to... |
ORPHA:17 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Mitochondrial hypertrophy, Failure to thrive |
OMIM:619518 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Optic atrophy, Lumbar hyperlordosis, Butterfly vertebrae, Vertebral fusion, Thoracic kyphoscolios... |
ORPHA:313892 |
Budd-Chiari Syndrome |
|
Elevated circulating hepatic transaminase concentration, Acute hepatic failure, Portal hypertensi... |
ORPHA:131 |
Parenteral Nutrition-Associated Cholestasis |
|
Elevated gamma-glutamyltransferase level, Cholelithiasis, Hepatic fibrosis, Hepatic failure, Elev... |
ORPHA:567983 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Abnormal auditory evoked potentials, Os odontoideum, Attenuation of retinal blood vessels, Biconc... |
OMIM:619260 |
Stankiewicz-Isidor Syndrome |
|
Cryptorchidism, Abnormal optic disc morphology, Pineal cyst, Shawl scrotum, Micropenis, Hypospadi... |
OMIM:617516 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Failure to thrive, Hypo... |
OMIM:617156 |
Woods Syndrome |
|
Frontal hirsutism, Optic atrophy, Supernumerary nipple |
OMIM:615236 |
Wolfram Syndrome, Mitochondrial Form |
|
Optic atrophy, Sideroblastic anemia, Megaloblastic anemia, Thrombocytopenia, Abnormal autonomic n... |
OMIM:598500 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency |
|
Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen... |
OMIM:605911 |
Infantile Liver Failure Syndrome 3 |
|
Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Cholestasis, ... |
OMIM:618641 |
Eales Disease |
|
Macular edema, Retinal thinning, Peripheral retinal neovascularization, Vitritis, Epiretinal memb... |
ORPHA:40923 |
Retinitis Pigmentosa 86 |
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Nummular pigmentation of the fundus, Attenuation of retinal blood vessels, Cystoid macular edema,... |
OMIM:618613 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
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Elevated circulating hepatic transaminase concentration, Glycosuria, Hypoglycemia, Large for gest... |
OMIM:616026 |
Mitochondrial Phosphate Carrier Deficiency |
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Abnormal mitochondrial shape |
OMIM:610773 |
Incontinentia Pigmenti |
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Optic atrophy, Alopecia, Coarse hair, Fine hair, Supernumerary nipple, Breast aplasia, Breast hyp... |
OMIM:308300 |
3-Methylglutaconic Aciduria, Type V |
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Optic atrophy, Normochromic microcytic anemia, Decreased testicular size, Cryptorchidism, Hypospa... |
OMIM:610198 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
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Optic disc pallor, Cryptorchidism |
OMIM:613730 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
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Optic atrophy, Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropat... |
ORPHA:320406 |
Mitochondrial Complex I Deficiency, Nuclear Type 29 |
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Decreased activity of mitochondrial complex I, Failure to thrive, Mitochondrial swelling |
OMIM:618250 |
Retinitis Pigmentosa 10 |
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Attenuation of retinal blood vessels, Bull's eye maculopathy, Bone spicule pigmentation of the re... |
OMIM:180105 |
Barth Syndrome |
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Failure to thrive, Abnormal mitochondrial morphology |
OMIM:302060 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
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Macular degeneration, Attenuation of retinal blood vessels, Peripapillary atrophy, Bone spicule p... |
OMIM:618195 |
Micro Syndrome |
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Optic atrophy, Retinal coloboma, Abnormality of retinal pigmentation, Cryptorchidism, Generalized... |
ORPHA:2510 |
Cone-Rod Dystrophy 3 |
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Pigmentary retinopathy, Attenuation of retinal blood vessels, Bull's eye maculopathy, Cone/cone-r... |
OMIM:604116 |
Retinitis Pigmentosa 41 |
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Pigmentary retinopathy, Macular degeneration, Attenuation of retinal blood vessels, Bone spicule ... |
OMIM:612095 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
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Decreased mitochondrial number |
ORPHA:352447 |
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
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Optic atrophy, Decreased motor nerve conduction velocity, Lumbar hyperlordosis, Axonal degenerati... |
OMIM:601152 |
Retinitis Pigmentosa 46 |
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Optic disc pallor, Pigmentary retinopathy, Attenuation of retinal blood vessels, Rod-cone dystrophy |
OMIM:612572 |
Retinitis Pigmentosa 58 |
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Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti... |
OMIM:613617 |
Osteopetrosis, Autosomal Recessive 8 |
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Optic atrophy, Splenomegaly, Thrombocytopenia, Anemia, Facial palsy |
OMIM:615085 |
Retinitis Pigmentosa 25 |
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Attenuation of retinal blood vessels, Chorioretinal atrophy, Bone spicule pigmentation of the ret... |
OMIM:602772 |
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome |
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Highly arched eyebrow, Microcytic anemia, Decreased testicular size, Cryptorchidism, Hirsutism, A... |
ORPHA:293967 |
Retinitis Pigmentosa 72 |
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Attenuation of retinal blood vessels, Peripapillary atrophy, Bone spicule pigmentation of the ret... |
OMIM:616469 |
Dysosteosclerosis |
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Platyspondyly, Optic atrophy, Abnormal cranial nerve morphology, Hypoplastic vertebral bodies, Ir... |
ORPHA:1782 |
Leber Congenital Amaurosis |
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Abnormal optic disc morphology, Abnormality of retinal pigmentation |
ORPHA:65 |
Chromosome Xp11.3 Deletion Syndrome |
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Optic atrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels, Cryptorchidism, Rod-... |
OMIM:300578 |
Retinitis Pigmentosa 49 |
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Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... |
OMIM:613756 |
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium |
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Abnormal optic disc morphology, Vitreoretinopathy, Retinal vascular tortuosity |
ORPHA:440727 |
Gm1-Gangliosidosis, Type Ii |
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Platyspondyly, Optic atrophy, Thoracolumbar kyphosis, Sea-blue histiocytosis, Splenomegaly, Hypop... |
OMIM:230600 |
Jalili Syndrome |
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Retinal pigment epithelial mottling, Attenuation of retinal blood vessels, Cone/cone-rod dystroph... |
OMIM:217080 |
Retinitis Pigmentosa |
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Optic atrophy, Hypogonadism, Attenuation of retinal blood vessels, Abnormality of retinal pigment... |
ORPHA:791 |
Muscular Dystrophy, Congenital, Megaconial Type |
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Mitochondrial hypertrophy |
OMIM:602541 |
Retinitis Pigmentosa 56 |
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Pigmentary retinopathy, Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pig... |
OMIM:613581 |
Zika Virus Disease |
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Retinal pigment epithelial mottling, Optic disc hypoplasia, Chorioretinal atrophy, Abnormal optic... |
ORPHA:448237 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
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Mitochondrial swelling |
ORPHA:397744 |
Juvenile Glaucoma |
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Abnormal optic nerve morphology, Retinal vein occlusion, Retinal arterial occlusion, Increased cu... |
ORPHA:98977 |
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome |
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Abnormal mitochondrial shape, Failure to thrive |
ORPHA:543470 |
Retinitis Pigmentosa 43 |
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Pigmentary retinopathy, Attenuation of retinal blood vessels, Bone spicule pigmentation of the re... |
OMIM:613810 |
Immunodeficiency 68 |
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Abnormal natural killer cell count, T lymphocytopenia, Abscess, B lymphocytopenia |
OMIM:612260 |
Mogs-Cdg |
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Optic atrophy, Alopecia, Fair hair, External genital hypoplasia, Long eyelashes, Hepatosplenomega... |
ORPHA:79330 |
Retinitis Pigmentosa 14 |
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Optic disc pallor, Rod-cone dystrophy, Retinal arteriolar constriction, Bone spicule pigmentation... |
OMIM:600132 |
Immunodeficiency 67 |
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Abnormal T cell count, Transient neutropenia, Abnormal B cell count, Abnormal natural killer cell... |
OMIM:607676 |
Leber Optic Atrophy |
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Optic atrophy, Central retinal vessel vascular tortuosity, Optic neuropathy, Leber optic atrophy |
OMIM:535000 |
Dystonia-Aphonia Syndrome |
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Abnormal mitochondrial shape |
ORPHA:412217 |
Autoimmune Disease, Multisystem, Infantile-Onset, 3 |
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Abnormal T cell count, Hepatic hemophagocytosis, Abnormal B cell count, Autoimmune hemolytic anem... |
OMIM:620430 |
Retinitis Pigmentosa 60 |
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Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,... |
OMIM:613983 |
Chops Syndrome |
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Optic atrophy, Coarse hair, Long eyelashes, Thick eyebrow, Cryptorchidism, Splenomegaly, Cervical... |
OMIM:616368 |
Tetraamelia-Multiple Malformations Syndrome |
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Optic atrophy, Cryptorchidism, Vaginal atresia, Septo-optic dysplasia, Abnormally ossified vertebrae |
ORPHA:3301 |
Severe Early-Childhood-Onset Retinal Dystrophy |
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Retinal pigment epithelial mottling, Abnormal macular morphology, Attenuation of retinal blood ve... |
ORPHA:364055 |
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
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Abnormal mitochondrial shape |
ORPHA:485421 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
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Increased mitochondrial number |
ORPHA:263297 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
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Abnormal T cell count, Lymphopenia, Hepatosplenomegaly, Decreased proportion of CD3-positive T ce... |
ORPHA:331206 |
Say-Barber-Miller Syndrome |
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Optic atrophy, Sparse eyebrow, Macular degeneration, Highly arched eyebrow, Hypogonadism, Abnorma... |
ORPHA:3132 |
Von Hippel-Lindau Disease |
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Retinal capillary hemangioma, Macular edema, Polycythemia, Neoplasm of the pancreas, Back pain, H... |
ORPHA:892 |
Ramon Syndrome |
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Pigmentary retinopathy, Hypertrichosis, Enlarged labia minora, Optic disc pallor, Scoliosis, Kyph... |
OMIM:266270 |
Myhre Syndrome |
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Platyspondyly, Fine hair, Enlarged vertebral pedicles, Thick eyebrow, Cryptorchidism, Short neck,... |
OMIM:139210 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
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Optic atrophy, Alopecia, Decreased testicular size, Leukocytosis, Hypoplasia of the ovary, Microp... |
OMIM:619321 |
Immunodeficiency 9 |
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Hypoplasia of the thymus, Lymphopenia, Abnormal natural killer cell count |
OMIM:612782 |
Bardet-Biedl Syndrome 20 |
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Male hypogonadism, Retinal vascular tortuosity, Bilateral cryptorchidism, Papilledema, Rod-cone d... |
OMIM:619471 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
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Retinal coloboma, Thoracic hemivertebrae, Hypertrichosis, Thoracic kyphosis, Thoracic scoliosis, ... |
ORPHA:508498 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
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Small cervical vertebral bodies, Supernumerary nipple, Cervical spinal canal stenosis, Abnormal o... |
ORPHA:397715 |
Macrophage Activation Syndrome |
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Hemophagocytosis, Splenomegaly, Neutropenia, Thrombocytopenia, Anemia, Abnormal natural killer ce... |
ORPHA:158061 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
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Decreased proportion of memory B cells, Hepatosplenomegaly, Pancytopenia, Abnormal lymphocyte cou... |
ORPHA:79124 |
7Q11.23 Microduplication Syndrome |
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Horizontal eyebrow, Aplasia/hypoplasia of the uterus, Sparse anterior scalp hair, Long eyelashes,... |
ORPHA:96121 |
Dyskeratosis Congenita, X-Linked |
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Optic atrophy, Alopecia, Premature graying of hair, Decreased testicular size, Pancytopenia, Leuk... |
OMIM:305000 |
Cancer-Associated Retinopathy |
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Optic atrophy, Uterine neoplasm, Foveal hyporeflective spaces on macular OCT, Pancreatic adenocar... |
ORPHA:71505 |
Pagod Syndrome |
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Optic atrophy, Abnormality of the uterus, Abnormal morphology of female internal genitalia, Abnor... |
ORPHA:991 |
Sympathetic Ophthalmia |
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Macular edema, Alopecia, Vitreous floaters, Papilledema, Retinal detachment, Retinal hemorrhage, ... |
ORPHA:79098 |
Temtamy Preaxial Brachydactyly Syndrome |
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Abnormal optic disc morphology, Optic atrophy |
ORPHA:363417 |
Hemophagocytic Syndrome Associated With An Infection |
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Hemophagocytosis, Pancytopenia, Abnormal T cell subset distribution, Splenomegaly, Neutropenia, T... |
ORPHA:158048 |
Pontocerebellar Hypoplasia Type 7 |
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Optic atrophy, Clitoral hypertrophy, Microphallus, Gonadal dysgenesis, Cryptorchidism, Aplasia of... |
ORPHA:284339 |
Osteogenesis Imperfecta |
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Cervical kyphosis, Abnormal form of the vertebral bodies, Enlarged vertebral pedicles, Biconcave ... |
ORPHA:666 |