Lung Cancer |
|
Non-small cell lung carcinoma, Alveolar cell carcinoma, Lung adenocarcinoma |
OMIM:211980 |
Small Cell Cancer Of The Lung |
|
Neoplasm of the lung |
OMIM:182280 |
Tumor Predisposition Syndrome |
|
Cutaneous melanoma, Meningioma, Lung adenocarcinoma, Renal cell carcinoma, Uveal melanoma |
OMIM:614327 |
Azotemia, Familial |
|
Azotemia |
OMIM:109160 |
Bardet-Biedl Syndrome 13 |
|
Obesity, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal bloo... |
OMIM:615990 |
Retinitis Pigmentosa 36 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular degenerat... |
OMIM:610599 |
Li-Fraumeni Syndrome |
|
Adrenocortical carcinoma, Prostate neoplasm, Choriocarcinoma, Acute leukemia, Lung adenocarcinoma... |
OMIM:151623 |
Hyperreflexia |
|
Abnormality of retinal pigmentation |
OMIM:145290 |
Grouped Pigmentation Of The Retina |
|
Abnormality of retinal pigmentation |
OMIM:233800 |
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome |
|
Myopathy, Abnormality of retinal pigmentation |
ORPHA:2579 |
X-Linked Retinal Dysplasia |
|
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia |
ORPHA:1852 |
Cleft Lip-Retinopathy Syndrome |
|
Abnormality of retinal pigmentation, Retinopathy |
ORPHA:1995 |
Macular Dystrophy, Retinal, 2 |
|
Retinal pigment epithelial atrophy, Macular dystrophy, Granular macular appearance, Perifoveal ri... |
OMIM:608051 |
Retinitis Pigmentosa 39 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:613809 |
Retinopathy, Pericentral Pigmentary, Dominant |
|
Attenuation of retinal blood vessels, Retinal dystrophy, Bone spicule pigmentation of the retina,... |
OMIM:180210 |
Persistent Placoid Maculopathy |
|
Choroidal neovascularization, Retinal pigment epithelial mottling, Hypoplasia of the fovea, Abnor... |
ORPHA:97341 |
Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Subretinal deposits, Hyporeflective spaces on macular OCT, Choroidal neovascularization, Macular ... |
ORPHA:59181 |
Central Areolar Choroidal Dystrophy |
|
Macular atrophy, Drusen, Hypopigmentation of the fundus, Retinal pigment epithelial mottling, Hyp... |
ORPHA:75377 |
Night Blindness, Congenital Stationary, Autosomal Dominant 1 |
|
Bone spicule pigmentation of the retina, Congenital stationary night blindness |
OMIM:610445 |
Liberfarb Syndrome |
|
Optic disc pallor, Retinal degeneration, Bone spicule pigmentation of the retina, Retinal pigment... |
OMIM:618889 |
Homocarnosinosis |
|
Abnormality of skin pigmentation, Abnormality of retinal pigmentation |
OMIM:236130 |
Nephronophthisis |
|
Abnormality of retinal pigmentation |
ORPHA:655 |
Familial Drusen |
|
Hypoautofluorescent macular lesion, Macular atrophy, Abnormality of retinal pigmentation, Macular... |
ORPHA:75376 |
Neuropathy, Ataxia, And Retinitis Pigmentosa |
|
Myopathy, Retinal pigment epithelial mottling, Retinopathy, Rod-cone dystrophy |
OMIM:551500 |
Retinitis Pigmentosa 30 |
|
Optic atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Chorioretinal atrophy... |
OMIM:607921 |
Retinitis Pigmentosa 69 |
|
Abnormality of retinal pigmentation, Rod-cone dystrophy, Pigmentary retinopathy |
OMIM:615780 |
Nanophthalmos |
|
Abnormality of retinal pigmentation, Abnormal choroid morphology |
ORPHA:35612 |
Reticular Dystrophy Of Retinal Pigment Epithelium |
|
Abnormality of retinal pigmentation, Pigmentary retinopathy |
OMIM:179840 |
Retinitis Pigmentosa 47 |
|
Chorioretinal atrophy, Rod-cone dystrophy, Pigmentary retinopathy |
OMIM:613758 |
Retinitis Pigmentosa 33 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal pigment e... |
OMIM:610359 |
Laurence-Moon Syndrome |
|
Pigmentary retinopathy |
OMIM:245800 |
Retinitis Pigmentosa 32 |
|
Pigmentary retinopathy, Photoreceptor layer loss on macular OCT, Optic disc pallor, Retinal degen... |
OMIM:609913 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:1574 |
Ataxia-Tapetoretinal Degeneration Syndrome |
|
Rod-cone dystrophy, Pigmentary retinopathy |
ORPHA:1178 |
Progressive Cone Dystrophy |
|
Abnormality of retinal pigmentation |
ORPHA:1871 |
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:2246 |
Retinitis Pigmentosa 54 |
|
Fundus atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retin... |
OMIM:613428 |
Myopathy, Distal, With Rimmed Vacuoles |
|
Skeletal muscle atrophy, Z-band streaming, Internally nucleated skeletal muscle fibers, Facial pa... |
OMIM:617158 |
Oliver-Mcfarlane Syndrome |
|
Retinal degeneration, Small for gestational age, Distal amyotrophy, Central heterochromia, Pigmen... |
OMIM:275400 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Pigmentary retinopathy |
OMIM:609016 |
Oculopharyngodistal Myopathy 3 |
|
Pigmentary retinopathy, Weakness of facial musculature, Limb muscle weakness, Internally nucleate... |
OMIM:619473 |
Blue Cone Monochromatism |
|
Abnormality of retinal pigmentation |
ORPHA:16 |
Retinitis Pigmentosa 61 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:614180 |
Progressive Bifocal Chorioretinal Atrophy |
|
Macular atrophy, Chorioretinal dystrophy, Pigmentary retinopathy |
ORPHA:75373 |
Retinitis Pigmentosa 76 |
|
Bone spicule pigmentation of the retina, Peripapillary atrophy, Hyperautofluorescent macular lesi... |
OMIM:617123 |
Retinitis Pigmentosa 11 |
|
Macular atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, ... |
OMIM:600138 |
Bothnia Retinal Dystrophy |
|
Retinitis, Retinal degeneration, Retinal pigment epithelial mottling, Rod-cone dystrophy, Macular... |
ORPHA:85128 |
Kearns-Sayre Syndrome |
|
Abnormality of retinal pigmentation, Ragged-red muscle fibers, Skeletal muscle atrophy |
ORPHA:480 |
Inclusion Body Myositis |
|
Abnormal muscle fiber morphology, Ragged-red muscle fibers, Skeletal muscle atrophy, Quadriceps m... |
ORPHA:611 |
Pigmented Paravenous Chorioretinal Atrophy |
|
Vitreoretinopathy, Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy |
OMIM:172870 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Pigmentary retinopathy |
OMIM:614307 |
Cone-Rod Dystrophy 16 |
|
Macular atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, ... |
OMIM:614500 |
Gne Myopathy |
|
Abnormal right hemidiaphragm morphology, Lower limb amyotrophy, Hip flexor weakness, Shoulder gir... |
ORPHA:602 |
Retinitis Pigmentosa 17 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:600852 |
Rhabdoid Tumor Predisposition Syndrome 2 |
|
Neoplasm of the central nervous system, Carcinoma |
OMIM:613325 |
Ceroid Lipofuscinosis, Neuronal, 7 |
|
Optic atrophy, Retinopathy, Pigmentary retinopathy |
OMIM:610951 |
Retinitis Pigmentosa 7 |
|
Chorioretinal atrophy, Pigmentary retinopathy, Rod-cone dystrophy, Attenuation of retinal blood v... |
OMIM:608133 |
Retinitis Pigmentosa 87 With Choroidal Involvement |
|
Nummular pigmentation of the fundus, Bone spicule pigmentation of the retina, Chorioretinal atrop... |
OMIM:618697 |
Myopathy, Distal, 5 |
|
Myopathy, Facial palsy, Rimmed vacuoles, Distal amyotrophy, Muscle fiber splitting |
OMIM:617030 |
Cone Rod Dystrophy |
|
Abnormality of retinal pigmentation |
ORPHA:1872 |
Retinitis Pigmentosa 28 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:606068 |
Stargardt Disease |
|
Aplasia/Hypoplasia of the macula, Retinal pigment epithelial mottling, Macular degeneration, Reti... |
ORPHA:827 |
Retinitis Pigmentosa 37 |
|
Cystoid macular degeneration, Rod-cone dystrophy, Pigmentary retinopathy |
OMIM:611131 |
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant |
|
Z-band streaming, Autophagic vacuoles, Internally nucleated skeletal muscle fibers, Rimmed vacuol... |
OMIM:618655 |
Retinitis Pigmentosa 90 |
|
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Cystoid macular edem... |
OMIM:619007 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Abnormality of retinal pigmentation, Optic disc pallor, Retinal fold, Abnormality of skin pigment... |
OMIM:251270 |
Retinitis Pigmentosa 9 |
|
Macular atrophy, Bone spicule pigmentation of the retina, Macular edema, Rod-cone dystrophy |
OMIM:180104 |
Nonaka Myopathy |
|
EMG: myopathic abnormalities, Rimmed vacuoles, Deposits immunoreactive to beta-amyloid protein, D... |
OMIM:605820 |
Retinitis Pigmentosa 2 |
|
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal degeneration |
OMIM:312600 |
Retinitis Pigmentosa 6 |
|
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal degeneration |
OMIM:312612 |
Merrf |
|
Optic atrophy, Myopathy, Ragged-red muscle fibers |
ORPHA:551 |
Retinitis Pigmentosa 88 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular... |
OMIM:618826 |
Retinitis Pigmentosa 4 |
|
Rod-cone dystrophy, Pigmentary retinopathy |
OMIM:613731 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant |
|
Proximal muscle weakness in lower limbs, Proximal lower limb amyotrophy, Spinal muscular atrophy,... |
OMIM:158600 |
Bietti Crystalline Dystrophy |
|
Subretinal deposits, Retinal pigment epithelial mottling, Chorioretinal degeneration, Retinal pig... |
ORPHA:41751 |
Achromatopsia |
|
Hypoplasia of the fovea, Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy,... |
ORPHA:49382 |
Choroideremia |
|
Abnormality of retinal pigmentation |
ORPHA:180 |
Multiple Mitochondrial Dysfunctions Syndrome 5 |
|
Pigmentary retinopathy |
OMIM:617613 |
Cone-Rod Dystrophy, X-Linked, 1 |
|
Retinal pigment epithelial atrophy, Hypoautofluorescent macular lesion, Retinal pigment epithelia... |
OMIM:304020 |
Retinitis Pigmentosa 19 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal pigment e... |
OMIM:601718 |
Retinopathy, Pericentral Pigmentary, Autosomal Recessive |
|
Pigmentary retinopathy |
OMIM:268060 |
Central Retinal Vein Occlusion |
|
Intraretinal hemorrhage, Macular edema, Macular degeneration, Papilledema, Retinal neovasculariza... |
ORPHA:411527 |
Microphthalmia, Isolated 5 |
|
Foveoschisis, Drusen, Abnormality of skin pigmentation, Optic disc drusen, Bone spicule pigmentat... |
OMIM:611040 |
Colorectal Cancer, Susceptibility To, 12 |
|
Colorectal polyposis, Carcinoma |
OMIM:615083 |
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome |
|
Abnormality of retinal pigmentation, Facial palsy |
ORPHA:2743 |
Lichen Sclerosus Et Atrophicus |
|
Squamous cell carcinoma, Carcinoma |
OMIM:151590 |
Retinal Cone Dystrophy 4 |
|
Retinal pigment epithelial mottling, Cone/cone-rod dystrophy |
OMIM:610478 |
Spinocerebellar Ataxia, Autosomal Recessive 29 |
|
Optic disc pallor, Retinal pigment epithelial mottling |
OMIM:619389 |
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Internally nucleated skeletal muscle fibers, Quadriceps muscle atrophy, Proximal muscle weakness ... |
ORPHA:206549 |
Usher Syndrome, Type Iv |
|
Bone spicule pigmentation of the retina, Retinal degeneration, Hyperautofluorescent macular lesio... |
OMIM:618144 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 |
|
Proximal upper limb amyotrophy, Myopathy, Pelvic girdle muscle weakness, Proximal lower limb amyo... |
OMIM:609115 |
Fanconi Renotubular Syndrome 5 |
|
Emphysema, Pulmonary fibrosis, Lung adenocarcinoma |
OMIM:618913 |
Congenital Stationary Night Blindness |
|
Abnormality of retinal pigmentation, Congenital stationary night blindness with normal fundus, Co... |
ORPHA:215 |
Mitochondrial Myopathy With Diabetes |
|
Proximal amyotrophy, Ragged-red muscle fibers, Facial palsy, EMG: myopathic abnormalities, Weakne... |
OMIM:500002 |
Congenital Muscular Dystrophy With Intellectual Disability |
|
Pigmentary retinopathy, Skeletal muscle hypertrophy, Facial palsy, Reduced muscle fiber alpha dys... |
ORPHA:370968 |
Retinitis Pigmentosa 1 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:180100 |
Hereditary Myopathy With Early Respiratory Failure |
|
Necrotizing myopathy, Muscle fiber hypertrophy, Skeletal muscle atrophy, Internally nucleated ske... |
ORPHA:178464 |
Ring Chromosome 14 Syndrome |
|
Pigmentary retinopathy |
OMIM:616606 |
Leber Congenital Amaurosis 2 |
|
Fundus atrophy, Pigmentary retinopathy |
OMIM:204100 |
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy |
|
Pigmentary retinopathy |
OMIM:619090 |
Renal Failure, Progressive, With Hypertension |
|
Elevated circulating creatinine concentration |
OMIM:161900 |
Retinitis Pigmentosa 92 |
|
Pigmentary retinopathy |
OMIM:619614 |
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction |
|
Retinal pigment epithelial mottling, Hyporeflective spaces on macular OCT, Central retinal vessel... |
ORPHA:506353 |
Microcephaly-Cardiomyopathy Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:2515 |
Diprosopus |
|
Abnormality of retinal pigmentation |
ORPHA:1681 |
Retinitis Pigmentosa 86 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... |
OMIM:618613 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 |
|
Proximal muscle weakness in lower limbs, Proximal upper limb amyotrophy, Rimmed vacuoles, Muscula... |
OMIM:601954 |
Eem Syndrome |
|
Abnormality of retinal pigmentation, Macular dystrophy, Retinopathy |
ORPHA:1897 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Optic atrophy, Abnormal mitochondria in muscle tissue, Ragged-red muscle fibers, Increased intram... |
OMIM:252011 |
Morning Glory Disc Anomaly |
|
Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma |
ORPHA:35737 |
Retinopathy, Pigmentary, And Mental Retardation |
|
Truncal obesity, Pigmentary retinopathy |
OMIM:268050 |
Distal Myopathy, Welander Type |
|
Myopathy, Distal upper limb amyotrophy, EMG: myopathic abnormalities, Rimmed vacuoles, Intrinsic ... |
ORPHA:603 |
Asbestos Intoxication |
|
Lung adenocarcinoma, Interlobular septal thickening, Pleural thickening, Abnormal pulmonary inter... |
ORPHA:2302 |
Retinitis Pigmentosa 41 |
|
Pigmentary retinopathy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dyst... |
OMIM:612095 |
Bazex Syndrome |
|
Liposarcoma, Neoplasm, Lung adenocarcinoma |
ORPHA:166113 |
Glutathione Synthetase Deficiency |
|
Pigmentary retinopathy |
OMIM:266130 |
Cone-Rod Dystrophy 3 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Bull's eye maculopathy, Pigmentary retin... |
OMIM:604116 |
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment |
|
Elevated circulating creatinine concentration |
OMIM:242530 |
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion |
|
Hypouricemia |
OMIM:307830 |
Cofs Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation, Arthrogryposis multiplex congenita, Camptodac... |
ORPHA:1466 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 |
|
Proximal muscle weakness in lower limbs, Muscle fiber necrosis, Calf muscle hypertrophy, Increase... |
OMIM:618848 |
Welander Distal Myopathy |
|
Rimmed vacuoles, Distal amyotrophy |
OMIM:604454 |
Familial Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement |
|
Macular coloboma, Abnormality of retinal pigmentation, Chorioretinal coloboma |
ORPHA:2196 |
Retinitis Pigmentosa 46 |
|
Pigmentary retinopathy, Optic disc pallor, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:612572 |
Oculocutaneous Albinism Type 4 |
|
Abnormality of retinal pigmentation, Hypoplasia of the fovea, Ocular albinism, White hair, Albini... |
ORPHA:79435 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, EMG: myopathic abnormalities, ... |
ORPHA:276435 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
|
Pelvic girdle muscle weakness, Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Quad... |
OMIM:254110 |
Squamous Cell Carcinoma, Head And Neck |
|
Squamous cell carcinoma |
OMIM:275355 |
Bardet-Biedl Syndrome 3 |
|
Obesity, Rod-cone dystrophy, Pigmentary retinopathy |
OMIM:600151 |
Myopathy, Myofibrillar, 5 |
|
Muscle fiber splitting, Muscle fiber cytoplasmatic inclusion bodies, Myofibrillar myopathy |
OMIM:609524 |
Glycogen Storage Disease Xiii |
|
Increased muscle glycogen content |
OMIM:612932 |
Exercise Intolerance, Riboflavin-Responsive |
|
Ragged-red muscle fibers |
OMIM:616839 |
Ramon Syndrome |
|
Failure to thrive, Abnormality of retinal pigmentation |
ORPHA:3019 |
Senior-Loken Syndrome |
|
Retinal dystrophy, Abnormality of retinal pigmentation |
ORPHA:3156 |
Spinocerebellar Ataxia 7 |
|
Optic atrophy, Macular degeneration, Pigmentary retinopathy |
OMIM:164500 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Optic atrophy, Rod-cone dystrophy, Pigmentary retinopathy |
OMIM:264470 |
Bornholm Eye Disease |
|
Abnormality of retinal pigmentation, Optic nerve hypoplasia |
OMIM:300843 |
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Pelvic girdle muscle weakness, Autophagic vacuoles, Hip flexor weakness, Facial hypotonia, Should... |
ORPHA:266 |
Retinitis Pigmentosa 83 |
|
Vitreous floaters, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Cystoid macular e... |
OMIM:618173 |
Retinitis Pigmentosa |
|
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Optic atrophy, Obesity |
ORPHA:791 |
Retinitis Pigmentosa 45 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular degeneration |
OMIM:613767 |
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
|
Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, Weakness of facial musculature... |
ORPHA:457050 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3 |
|
Myopathy, Rimmed vacuoles, Limb-girdle muscular dystrophy, Abnormal morphology of the abdominal m... |
OMIM:615424 |
Leber Congenital Amaurosis |
|
Abnormality of retinal pigmentation, Abnormality of the optic disc |
ORPHA:65 |
Leber Congenital Amaurosis 1 |
|
Fundus atrophy, Pigmentary retinopathy |
OMIM:204000 |
Oculopharyngodistal Myopathy 2 |
|
Weakness of facial musculature, EMG: myopathic abnormalities, Rimmed vacuoles, Increased endomysi... |
OMIM:618940 |
Sjögren-Larsson Syndrome |
|
Abnormality of retinal pigmentation, Retinopathy, Generalized hyperpigmentation, Macular degenera... |
ORPHA:816 |
Mitochondrial Myopathy, Infantile, Transient |
|
Ragged-red muscle fibers, Increased muscle lipid content, Muscle fiber hypertrophy, Macroglossia,... |
OMIM:500009 |
Hypotaurinemic Retinal Degeneration And Cardiomyopathy |
|
Peripheral retinal atrophy, Macular atrophy, Photoreceptor layer loss on macular OCT, Retinal pig... |
OMIM:145350 |
Retinitis Pigmentosa 43 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... |
OMIM:613810 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Skeletal muscle hypertrophy, Macroglossia, Facial palsy, Congenital muscular dystrophy, Left vent... |
OMIM:613156 |
Retinitis Pigmentosa 56 |
|
Pigmentary retinopathy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dyst... |
OMIM:613581 |
Retinitis Pigmentosa 49 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... |
OMIM:613756 |
Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Autophagic vacuoles, Facial diplegia, EMG: myopathic abnormalities, Increased variability in musc... |
ORPHA:399058 |
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 |
|
Abnormal muscle fiber morphology, Skeletal muscle fibrosis, Rimmed vacuoles, Increased variabilit... |
ORPHA:34516 |
Tibial Muscular Dystrophy |
|
Peroneal muscle atrophy, Proximal muscle weakness in lower limbs, Myopathy, Increased muscle lipi... |
ORPHA:609 |
Multiminicore Myopathy |
|
Proximal muscle weakness in lower limbs, Abnormal muscle fiber morphology, Myopathy, Minicore myo... |
ORPHA:598 |
Aplasia Cutis-Myopia Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:1117 |
Canavan Disease |
|
Optic atrophy, Abnormality of retinal pigmentation, Flexion contracture |
ORPHA:141 |
Diabetes And Deafness, Maternally Inherited |
|
Retinal degeneration, Pigmentary retinopathy |
OMIM:520000 |
Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Scapular winging, Angulated muscle fibers, Shoulder girdle muscle weakness, Weakness of facial mu... |
OMIM:619477 |
Cone-Rod Dystrophy 8 |
|
Abnormality of the optic nerve, Abnormality of retinal pigmentation, Macular degeneration, Cone/c... |
OMIM:605549 |
Zebra Body Myopathy |
|
Torticollis, Autophagic vacuoles, Facial palsy, EMG: myopathic abnormalities, Rimmed vacuoles, Ne... |
ORPHA:97240 |
Myopathy, Distal, 1 |
|
Toe extensor amyotrophy, Ragged-red muscle fibers, Facial palsy, Rimmed vacuoles, Weakness of lon... |
OMIM:160500 |
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
|
Heterochromia iridis, Abnormal retinal vascular morphology, Abnormality of retinal pigmentation |
ORPHA:1390 |
Posterior Column Ataxia With Retinitis Pigmentosa |
|
Pigmentary retinopathy, Optic atrophy, Attenuation of retinal blood vessels, Skeletal muscle atro... |
OMIM:609033 |
Nemaline Myopathy 2 |
|
Skeletal muscle atrophy, Foot dorsiflexor weakness, Weakness of facial musculature, Limb muscle w... |
OMIM:256030 |
Jalili Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:1873 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 |
|
Pelvic girdle muscle weakness, Facial palsy, Shoulder girdle muscle weakness, Rimmed vacuoles, Mu... |
OMIM:603511 |
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Abnormality of retinal pigmentation, Camptodactyly of finger |
ORPHA:2521 |
Oculopharyngeal Muscular Dystrophy |
|
Abnormal muscle fiber morphology, Myopathy, Ragged-red muscle fibers, Rimmed vacuoles |
ORPHA:270 |
Joubert Syndrome 28 |
|
Optic disc pallor, Pigmentary retinopathy |
OMIM:617121 |
Retinitis Pigmentosa 25 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Chorioretinal atr... |
OMIM:602772 |
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:397951 |
Inclusion Body Myositis |
|
Rimmed vacuoles, Inflammatory myopathy |
OMIM:147421 |
Retinitis Pigmentosa 58 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... |
OMIM:613617 |
Melanoma-Pancreatic Cancer Syndrome |
|
Pancreatic squamous cell carcinoma, Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcin... |
OMIM:606719 |
Retinitis Pigmentosa 51 |
|
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... |
OMIM:613464 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 |
|
Pelvic girdle muscle weakness, Autophagic vacuoles, EMG: myopathic abnormalities, Shoulder girdle... |
OMIM:608423 |
Myopathy, Myofibrillar, 3 |
|
Muscle fiber cytoplasmatic inclusion bodies, Achilles tendon contracture, Myofibrillar myopathy, ... |
OMIM:609200 |
Waardenburg-Shah Syndrome |
|
Abnormality of retinal pigmentation, Aganglionic megacolon, White eyelashes, White forelock, Abno... |
ORPHA:897 |
Autosomal Recessive Spastic Paraplegia Type 15 |
|
Pigmentary retinopathy, Retinal flecks, Leg muscle stiffness, Distal amyotrophy, Upper limb muscl... |
ORPHA:100996 |
Tricho-Retino-Dento-Digital Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:1264 |
Congenital Toxoplasmosis |
|
Abnormality of retinal pigmentation, Failure to thrive in infancy |
ORPHA:858 |
Leber Congenital Amaurosis 15 |
|
Optic disc pallor, Retinal degeneration, Rod-cone dystrophy, Retinopathy, Pigmentary retinopathy |
OMIM:613843 |
Retinitis Pigmentosa 10 |
|
Geographic atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:180105 |
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Abnormality of retinal pigmentation, Failure to thrive, Retinopathy, Chorioretinal atrophy, Abnor... |
ORPHA:5 |
Central Core Disease Of Muscle |
|
Central core regions in muscle fibers, Ankle flexion contracture, Skeletal muscle atrophy, Weakne... |
OMIM:117000 |
Tubular Aggregate Myopathy |
|
Type 2 muscle fiber atrophy, Muscle fiber tubular inclusions, EMG: myopathic abnormalities, Incre... |
ORPHA:2593 |
Oculocutaneous Albinism Type 2 |
|
Blue irides, Absent skin pigmentation, Abnormality of retinal pigmentation, Hypoplasia of the fov... |
ORPHA:79432 |
Narp Syndrome |
|
Retinal arteriolar tortuosity, Optic disc pallor, Retinal pigment epithelial mottling, Rod-cone d... |
ORPHA:644 |
Distal Nebulin Myopathy |
|
Ankle flexion contracture, Weakness of the intrinsic hand muscles, Weakness of facial musculature... |
ORPHA:399103 |
Leigh Syndrome With Leukodystrophy |
|
Failure to thrive, Optic atrophy, Pigmentary retinopathy |
ORPHA:255241 |
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy |
|
Pigmentary retinopathy, Skeletal muscle atrophy, Weakness of facial musculature, Limb muscle weak... |
ORPHA:329336 |
Oculocutaneous Albinism Type 1B |
|
Abnormality of the optic nerve, Abnormality of retinal pigmentation, Hypoplasia of the fovea, Fre... |
ORPHA:79434 |
Arthrogryposis, Distal, Type 5 |
|
Decreased muscle mass, Distal arthrogryposis, Firm muscles, Abnormality of retinal pigmentation, ... |
OMIM:108145 |
Choroidal Atrophy-Alopecia Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:1433 |
Myofibrillar Myopathy 11 |
|
Z-band streaming, Generalized amyotrophy, Shoulder girdle muscle atrophy, EMG: myopathic abnormal... |
OMIM:619178 |
Retinitis Pigmentosa 74 |
|
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy |
OMIM:616562 |
Blepharoptosis-Myopia-Ectopia Lentis Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:1259 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2 |
|
Ragged-red muscle fibers, Facial palsy, EMG: myopathic abnormalities |
OMIM:609283 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Decreased serum creatinine, Decreased circulating renin level |
OMIM:300539 |
Amyotrophic Lateral Sclerosis 20 |
|
Muscular dystrophy, Amyotrophic lateral sclerosis, Rimmed vacuoles, Muscle fiber inclusion bodies |
OMIM:615426 |
Bardet-Biedl Syndrome 9 |
|
Retinal degeneration, Bone spicule pigmentation of the retina, Truncal obesity, Rod-cone dystroph... |
OMIM:615986 |
Interstitial Nephritis, Karyomegalic |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:614817 |
Vitreoretinochoroidopathy |
|
Abnormality of chorioretinal pigmentation, Retinal detachment, Vitreous hemorrhage, Retinal neova... |
OMIM:193220 |
Retinitis Pigmentosa 14 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal arteriolar constriction, Rod-... |
OMIM:600132 |
Vacuolar Neuromyopathy |
|
Shoulder girdle muscle weakness, Rimmed vacuoles, Muscular dystrophy, Centrally nucleated skeleta... |
OMIM:601846 |
Myopathy, Scapulohumeroperoneal |
|
Skeletal muscle atrophy, Wrist drop, Achilles tendon contracture, Facial palsy, Centrally nucleat... |
OMIM:616852 |
Severe Early-Childhood-Onset Retinal Dystrophy |
|
Rhegmatogenous retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Granul... |
ORPHA:364055 |
Birt-Hogg-Dubé Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:122 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Obesity, Abnormality of retinal pigmentation |
ORPHA:3085 |
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities |
|
Weakness of facial musculature, Internally nucleated skeletal muscle fibers, Abnormal Z disc morp... |
OMIM:618654 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 18 |
|
Increased intramyocellular lipid droplets, Weakness of facial musculature |
OMIM:619062 |
Nemaline Myopathy 4 |
|
Skeletal muscle atrophy, Limb muscle weakness, Facial diplegia, Flexion contracture, Scapular win... |
OMIM:609285 |
Acute Zonal Occult Outer Retinopathy |
|
Vitreous inflammatory cells, Macular drusen, Abnormal fundus fluorescein angiography, Retinal pig... |
ORPHA:284454 |
Lactic Acidosis, Chronic Adult Form |
|
Hyperuricemia |
OMIM:150170 |
Moderate Multiminicore Disease With Hand Involvement |
|
Intrinsic hand muscle atrophy, Facial palsy, Type 1 muscle fiber predominance |
ORPHA:178145 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation |
ORPHA:171844 |
Retinitis Punctata Albescens |
|
Pigmentary retinopathy, Macular atrophy, Retinal atrophy, Retinal pigment epithelial mottling, Ab... |
ORPHA:52427 |
Muscular Dystrophy, Congenital, Merosin-Positive |
|
Myopathy, Facial palsy, Shoulder girdle muscle weakness, Congenital muscular dystrophy, Flexion c... |
OMIM:609456 |
Juvenile Paget Disease |
|
Optic atrophy, Abnormality of retinal pigmentation, Melanocytic nevus |
ORPHA:2801 |
Myopathy, Autophagic Vacuolar, Infantile-Onset |
|
Autophagic vacuoles, Myopathy |
OMIM:609500 |
Enhanced S-Cone Syndrome |
|
Vitreoretinopathy, Retinoschisis, Macular edema, Pigmentary retinopathy |
OMIM:268100 |
Myopathy, Centronuclear, 1 |
|
Skeletal muscle hypertrophy, Facial palsy, EMG: myopathic abnormalities, Flexion contracture, Cen... |
OMIM:160150 |
Myopathy, Myosin Storage, Autosomal Dominant |
|
Generalized limb muscle atrophy, Scapuloperoneal amyotrophy, EMG: myopathic abnormalities, Centra... |
OMIM:608358 |
Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Scapular winging, Flexion contracture, Rimmed vacuoles |
OMIM:300696 |
Autosomal Recessive Progressive External Ophthalmoplegia |
|
Optic atrophy, Myopathy, Ragged-red muscle fibers, Hand muscle weakness, Facial palsy, Optic neur... |
ORPHA:254886 |
Lipodystrophy, Familial Partial, Type 7 |
|
Orthostatic hypotension, Lower limb muscle weakness, Pigmentary retinopathy |
OMIM:606721 |
Lethal Congenital Contracture Syndrome 5 |
|
Small for gestational age, Congenital contracture, Decreased nerve conduction velocity, Flexion c... |
OMIM:615368 |
Childhood-Onset Nemaline Myopathy |
|
Generalized limb muscle atrophy, Increased muscle lipid content, Myopathy, Limb muscle weakness, ... |
ORPHA:171439 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Pelvic girdle muscle weakness, Myopathy, Limb muscle weakness, Amyotrophic lateral sclerosis, Sho... |
OMIM:167320 |
Distal Myopathy, Tateyama Type |
|
Weakness of the intrinsic hand muscles, Calf muscle hypoplasia, EMG: myopathic abnormalities, Int... |
ORPHA:488650 |
Cerebellar Ataxia-Hypogonadism Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:1173 |
Myopathy, Myofibrillar, 2 |
|
Autophagic vacuoles, EMG: myopathic abnormalities, Muscular dystrophy, Muscle fiber splitting, Fo... |
OMIM:608810 |
Mucolipidosis Type Iv |
|
Aplasia/Hypoplasia of the abdominal wall musculature, Abnormality of retinal pigmentation, Retino... |
ORPHA:578 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Myopathy, Facial palsy, Type 1 fibers relatively smaller than type 2 fibers, Frontalis muscle wea... |
OMIM:300580 |
Finnish Upper Limb-Onset Distal Myopathy |
|
Weakness of the intrinsic hand muscles, EMG: myopathic abnormalities, Joint contracture of the ha... |
ORPHA:399086 |
Jeune Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:474 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
|
Proximal amyotrophy, Myopathy, Scapular winging, Muscle fiber splitting |
OMIM:618129 |
Adult-Onset Nemaline Myopathy |
|
Myopathy, Increased muscle lipid content, EMG: myopathic abnormalities, Increased variability in ... |
ORPHA:171442 |
Cone-Rod Dystrophy 2 |
|
Macular hyperpigmentation, Bone spicule pigmentation of the retina, Retinal pigment epithelial at... |
OMIM:120970 |
Isolated Succinate-Coq Reductase Deficiency |
|
Pigmentary retinopathy, Skeletal muscle atrophy, Skeletal myopathy, Weight loss, Knee flexion con... |
ORPHA:3208 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc |
|
Myopathy, Ragged-red muscle fibers, Upper limb amyotrophy, Rimmed vacuoles, Increased variability... |
OMIM:616924 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
|
Muscle fiber splitting, Muscular dystrophy, EMG: myopathic abnormalities, Increased variability i... |
OMIM:253601 |
Proximal Myopathy With Extrapyramidal Signs |
|
Central core regions in muscle fibers, Optic atrophy, Centrally nucleated skeletal muscle fibers,... |
ORPHA:401768 |
Leigh Syndrome |
|
Failure to thrive, Optic atrophy, Pigmentary retinopathy |
OMIM:256000 |
Ataxia With Vitamin E Deficiency |
|
Abnormality of retinal pigmentation, Skeletal muscle atrophy |
ORPHA:96 |
Miyoshi Muscular Dystrophy 1 |
|
Muscular dystrophy, Deposits immunoreactive to beta-amyloid protein, Lower limb muscle weakness, ... |
OMIM:254130 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Weight loss, Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy |
ORPHA:216866 |
Spinal Muscular Atrophy, Infantile, James Type |
|
Hip contracture, Increased variability in muscle fiber diameter, Distal amyotrophy, Lower limb mu... |
OMIM:619042 |
Ciliary Dyskinesia With Transposition Of Ciliary Microtubules |
|
Abnormal respiratory motile cilium morphology, Recurrent sinopulmonary infections |
OMIM:215520 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Retinal pigment epithelial mottling, Retinopathy |
OMIM:219900 |
Neonatal Adrenoleukodystrophy |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:44 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Interphalangeal joint contracture of finger, Abnormal muscle fiber morphology, Ankle flexion cont... |
ORPHA:1145 |
Pleuropulmonary Blastoma |
|
Medulloblastoma, Rhabdomyosarcoma, Pleuropulmonary blastoma |
OMIM:601200 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Proximal muscle weakness in lower limbs, Shoulder flexion contracture, Skeletal muscle atrophy, S... |
OMIM:619566 |
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures |
|
Ankle flexion contracture, Muscular dystrophy, Increased endomysial connective tissue, Flexion co... |
OMIM:617072 |
Striatonigral Degeneration, Infantile, Mitochondrial |
|
Ragged-red muscle fibers |
OMIM:500003 |
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency |
|
Myopathy, Skeletal muscle atrophy, Congenital muscular dystrophy, Increased variability in muscle... |
OMIM:613204 |
Tibial Muscular Dystrophy, Tardive |
|
Muscular dystrophy, EMG: myopathic abnormalities, Rimmed vacuoles |
OMIM:600334 |
Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Pelvic girdle muscle weakness, Achilles tendon contracture, Scapular winging, Quadriceps muscle w... |
OMIM:603689 |
Tyrosinosis |
|
Hypertyrosinemia |
OMIM:276800 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 15 |
|
Pigmentary retinopathy |
OMIM:619059 |
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion |
|
Skeletal muscle atrophy, Calf muscle hypertrophy, Rimmed vacuoles |
OMIM:617760 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Abnormality of retinal pigmentation, Cachexia, Skeletal muscle atrophy, Melanocytic nevus, Multip... |
ORPHA:1969 |
Congenital Myopathy With Myasthenic-Like Onset |
|
Myopathy, Minicore myopathy, Failure to thrive, Scapular winging, EMG: myopathic abnormalities, M... |
ORPHA:424107 |
Desmoid Tumor |
|
Abnormality of retinal pigmentation |
ORPHA:873 |
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy |
|
Hand muscle weakness, Upper limb amyotrophy, Triceps weakness, Proximal lower limb amyotrophy, Sh... |
ORPHA:437572 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Abnormal muscle fiber morphology, Torticollis, Generalized amyotrophy, EMG: myopathic abnormaliti... |
ORPHA:75840 |
Neurocutaneous Melanocytosis |
|
Abnormality of retinal pigmentation, Chorioretinal coloboma, Generalized hyperpigmentation, Melan... |
ORPHA:2481 |
Corpus Callosum Agenesis-Neuronopathy Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:1496 |
Myopathy, Distal, 3 |
|
Joint contracture of the hand, EMG: myopathic abnormalities, Rimmed vacuoles, Muscular dystrophy,... |
OMIM:610099 |
Histidinemia |
|
Hyperhistidinemia, Histidinuria |
OMIM:235800 |
Bardet-Biedl Syndrome 17 |
|
Macular atrophy, Retinal degeneration, Bone spicule pigmentation of the retina, Rod-cone dystroph... |
OMIM:615994 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Blotching pigmentation of the skin, Mottled pigmentation of photoexposed areas, Failure to thrive... |
OMIM:560000 |
Mitochondrial Trifunctional Protein Deficiency |
|
Myopathy, Small for gestational age, Failure to thrive, Pigmentary retinopathy, Rhabdomyolysis |
OMIM:609015 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Myopathy, Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Rimmed ... |
OMIM:612937 |
Tubulointerstitial Nephritis With Uveitis |
|
Elevated circulating creatinine concentration |
OMIM:607665 |
Joubert Syndrome 8 |
|
Obesity, Optic disc pallor, Pigmentary retinopathy |
OMIM:612291 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Ankle flexion contracture, Type 2 muscle fiber atrophy, Generalized amyotrophy, Facial palsy, Abs... |
OMIM:617519 |
Spastic Paraplegia Type 7 |
|
Optic atrophy, Optic disc pallor, Ragged-red muscle fibers, Upper limb muscle weakness, Lower lim... |
ORPHA:99013 |
Nephronophthisis-Like Nephropathy 2 |
|
Elevated circulating creatinine concentration |
OMIM:619468 |
Colorectal Cancer, Susceptibility To, 10 |
|
Endometrial carcinoma, Colorectal polyposis, Carcinoma |
OMIM:612591 |
Neuromuscular Oculoauditory Syndrome |
|
Retinal pigment epithelial mottling, EMG: myopathic abnormalities, Knee flexion contracture, Wris... |
OMIM:618733 |
Myopathy, Congenital Proximal, With Minicore Lesions |
|
Minicore myopathy, Z-band streaming, Fatty replacement of skeletal muscle, Centrally nucleated sk... |
OMIM:618823 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Myopathy, Triceps weakness, Generalized amyotrophy, Left ventricular hypertrophy, Muscular dystro... |
ORPHA:86812 |
Hereditary Arterial And Articular Multiple Calcification Syndrome |
|
Decreased serum creatinine |
ORPHA:289601 |
Myasthenic Syndrome, Congenital, 14 |
|
Scapular winging, Ragged-red muscle fibers, Limb-girdle muscle weakness, Flexion contracture |
OMIM:616228 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Optic atrophy, Weakness of facial musculature, Failure to thrive, Increased intramyocellular lipi... |
OMIM:220110 |
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries |
|
Central core regions in muscle fibers, Muscular dystrophy |
OMIM:159050 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Optic atrophy, Myopathy, Abnormal auditory evoked potentials, Increased variability in muscle fib... |
OMIM:125250 |
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:2518 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Elevated circulating creatinine concentration |
ORPHA:567544 |
Neurodevelopmental Disorder With Seizures And Brain Abnormalities |
|
Retinal pigment epithelial mottling |
OMIM:619517 |
Nemaline Myopathy 5 |
|
Proximal amyotrophy, Myopathy, Shoulder flexion contracture, Z-band streaming, Hip contracture, N... |
OMIM:605355 |
Congenital Rubella Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:290 |
Congenital Myasthenic Syndromes With Glycosylation Defect |
|
Myopathy, Ragged-red muscle fibers, Muscle fiber tubular inclusions, Facial palsy, Knee flexion c... |
ORPHA:353327 |
Cohen Syndrome |
|
Optic atrophy, Chorioretinal dystrophy, Small for gestational age, Bull's eye maculopathy, Facial... |
OMIM:216550 |
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Optic disc pallor, Weakness of facial musculature, Increased intramyocellular lipid droplets, EMG... |
ORPHA:502423 |
Adrenocortical Carcinoma |
|
Adrenocortical carcinoma, Lung adenocarcinoma |
ORPHA:1501 |
Lowry-Wood Syndrome |
|
Small for gestational age, Elbow flexion contracture, Pigmentary retinopathy |
OMIM:226960 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Proximal muscle weakness in lower limbs, Skeletal muscle atrophy, Limb muscle weakness, Amyotroph... |
OMIM:613954 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Proximal muscle weakness in lower limbs, Internally nucleated skeletal muscle fibers, Decreased n... |
OMIM:618138 |
Myoclonic Epilepsy Associated With Ragged-Red Fibers |
|
Myopathy, Ragged-red muscle fibers |
OMIM:545000 |
Joubert Syndrome 3 |
|
Retinal dystrophy, Pigmentary retinopathy |
OMIM:608629 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Joint contracture of the hand, Proximal muscle weakness in upper limbs, Proximal upper limb amyot... |
ORPHA:466768 |
Legius Syndrome |
|
Non-small cell lung carcinoma, Ovarian neoplasm, Vestibular Schwannoma, Desmoid tumors, Acute mon... |
ORPHA:137605 |
Refsum Disease |
|
Abnormality of retinal pigmentation, Skeletal muscle atrophy, Retinopathy |
ORPHA:773 |
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
|
Rod-cone dystrophy, Pigmentary retinopathy |
OMIM:268020 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Abnormal sensory nerve conduction ve... |
ORPHA:88628 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Optic atrophy, Ragged-red muscle fibers, Generalized amyotrophy, Facial palsy, EMG: myopathic abn... |
OMIM:258450 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Optic disc pallor, Retinal degeneration, Pigmentary retinopathy |
ORPHA:79264 |
Ullrich Congenital Muscular Dystrophy 1 |
|
Reduced muscle collagen VI, Torticollis, Failure to thrive, Slender build, Generalized amyotrophy... |
OMIM:254090 |
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type) |
|
Ragged-red muscle fibers, Limb muscle weakness, Facial diplegia, Generalized amyotrophy, EMG: myo... |
OMIM:609560 |
Muscular Dystrophy, Limb-Girdle, Type 1H |
|
Centrally nucleated skeletal muscle fibers, Muscular dystrophy, Shoulder girdle muscle atrophy, C... |
OMIM:613530 |
Vici Syndrome |
|
Abnormal macular morphology, Optic atrophy, Abnormality of retinal pigmentation, Hypopigmentation... |
ORPHA:1493 |
Bardet-Biedl Syndrome |
|
Obesity, Skeletal muscle atrophy, Pigmentary retinopathy |
ORPHA:110 |
Salih Myopathy |
|
Myopathy, Facial palsy, Calf muscle hypertrophy, Flexion contracture, Centrally nucleated skeleta... |
OMIM:611705 |
Opsoclonus-Myoclonus Syndrome |
|
Neuroblastoma, Neoplasm of the lung, Neoplasm, Breast carcinoma, Ovarian teratoma, Small cell lun... |
ORPHA:1183 |
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Macroglossia, Right ventricular hypertrophy, Achilles tendon contracture, Scapular winging, EMG: ... |
ORPHA:353 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2 |
|
Myopathy, Skeletal muscle atrophy, Myositis, Rimmed vacuoles, Muscle fiber atrophy, Centrally nuc... |
OMIM:615422 |
Dpm3-Cdg |
|
Muscular dystrophy, Pelvic girdle muscle weakness, Calf muscle hypertrophy, Rimmed vacuoles |
ORPHA:263494 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15 |
|
Centrally nucleated skeletal muscle fibers, Myopathy, Increased variability in muscle fiber diameter |
OMIM:618992 |
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
|
Increased variability in muscle fiber diameter, Flexion contracture |
OMIM:300717 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Elevated circulating creatinine concentration |
OMIM:616733 |
Preeclampsia |
|
Elevated circulating creatinine concentration |
ORPHA:275555 |
Combined Oxidative Phosphorylation Deficiency 6 |
|
Ragged-red muscle fibers, Skeletal muscle atrophy |
OMIM:300816 |
Intermediate Nemaline Myopathy |
|
Skeletal muscle atrophy, Facial diplegia, Facial palsy, Arthrogryposis multiplex congenita, EMG: ... |
ORPHA:171433 |
Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Small for gestational age, Weakness of facial musculature, Arthrogryposis multiplex congenita, Fl... |
OMIM:618484 |
Nemaline Myopathy 3 |
|
Limb muscle weakness, Slender build, Facial palsy, EMG: myopathic abnormalities, Arthrogryposis m... |
OMIM:161800 |
Minicore Myopathy With External Ophthalmoplegia |
|
Type 1 and type 2 muscle fiber minicore regions, Minicore myopathy, Skeletal muscle atrophy, Faci... |
OMIM:255320 |
Hypouricemia, Renal, 2 |
|
Hypouricemia |
OMIM:612076 |
Severe Oculo-Renal-Cerebellar Syndrome |
|
Hypopigmented skin patches, Abnormal retinal vascular morphology, Abnormality of retinal pigmenta... |
ORPHA:2715 |
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Myopathy, Ragged-red muscle fibers, Increased muscle lipid content, Macroglossia, Increased muscl... |
ORPHA:254864 |
Kearns-Sayre Syndrome |
|
Ragged-red muscle fibers, Pigmentary retinopathy |
OMIM:530000 |
Distal Myotilinopathy |
|
Abnormal muscle fiber myotilin, EMG: myopathic abnormalities, Multiple joint contractures, Distal... |
ORPHA:98911 |
Myopathy, Tubular Aggregate, 1 |
|
Proximal amyotrophy, Myopathy, Type 2 muscle fiber atrophy, Weakness of the intrinsic hand muscle... |
OMIM:160565 |
Bethlem Myopathy 2 |
|
Scapular winging, Myopathy, Increased variability in muscle fiber diameter, Flexion contracture |
OMIM:616471 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Failure to thrive, Brushfield spots, Joint contracture of the hand, Pigmentary retinopathy, Campt... |
OMIM:214110 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Failure to thrive in infancy, Increased intramyocellular lipid droplets, Increased variability in... |
OMIM:619065 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Muscle fiber hypertrophy, Abnormal skeletal muscle morphology, Skeletal muscle atrophy, Internall... |
ORPHA:98905 |
Coach Syndrome 2 |
|
Elevated circulating creatinine concentration |
OMIM:619111 |
Myopathy, Proximal, With Ophthalmoplegia |
|
Scapular winging, Myopathy, Congenital contracture, Muscle fiber inclusion bodies |
OMIM:605637 |
Central Core Disease |
|
Central core regions in muscle fibers, Pelvic girdle muscle weakness, Myopathy, Multiple joint co... |
ORPHA:597 |
Dermatomyositis |
|
Gastrointestinal stroma tumor, Lung adenocarcinoma, Neoplasm, Lymphoma, Breast carcinoma, Abnorma... |
ORPHA:221 |
Trim32-Related Limb-Girdle Muscular Dystrophy R8 |
|
Proximal muscle weakness in lower limbs, Myopathy, Increased variability in muscle fiber diameter |
ORPHA:1878 |
Hypouricemia, Hypercalcinuria, And Decreased Bone Density |
|
Hypouricemia |
OMIM:242050 |
Zika Virus Disease |
|
Macular atrophy, Optic disc hypoplasia, Abnormality of the optic disc, Retinal pigment epithelial... |
ORPHA:448237 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Obesity, Rod-cone dystrophy, Pigmentary retinopathy |
ORPHA:2235 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Failure to thrive, Brushfield spots, Pigmentary retinopathy, Camptodactyly, Optic nerve dysplasia |
OMIM:614866 |
Mitochondrial Trifunctional Protein Deficiency |
|
Failure to thrive in infancy, Skeletal myopathy, Left ventricular hypertrophy, Pigmentary retinop... |
ORPHA:746 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Optic atrophy, Rod-cone dystrophy, Limb-girdle muscular dystrophy, Calf muscle pseudohypertrophy,... |
ORPHA:96180 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Rhabdomyolysis, Pigmentary retinopathy |
ORPHA:79095 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Failure to thrive, Optic atrophy, Skeletal muscle steatosis, Pigmentary retinopathy |
ORPHA:436271 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4 |
|
Ragged-red muscle fibers, Skeletal muscle atrophy |
OMIM:617070 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612925 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612924 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612926 |
Myopathy, Myofibrillar, 7 |
|
Shoulder flexion contracture, Z-band streaming, Type 2 muscle fiber predominance, Skeletal muscle... |
OMIM:617114 |
Myopathy, Congenital, With Fiber-Type Disproportion |
|
Limb joint contracture, Failure to thrive, Facial palsy, Type 1 fibers relatively smaller than ty... |
OMIM:255310 |
Mulibrey Nanism |
|
Pigmentary retinopathy |
OMIM:253250 |
Myopathy, Myofibrillar, 4 |
|
Autophagic vacuoles, Myofibrillar myopathy, EMG: myopathic abnormalities, Muscle fiber splitting |
OMIM:609452 |
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Elevated circulating creatinine concentration, Hyperuricemia |
ORPHA:79233 |
Lowry-Wood Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:1824 |
Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Necrotizing myopathy, Weakness of the intrinsic hand muscles, Facial diplegia, EMG: myopathic abn... |
ORPHA:329478 |
Bethlem Myopathy |
|
Multiple joint contractures, Interphalangeal joint contracture of finger, Ankle flexion contractu... |
ORPHA:610 |
Rigid Spine Muscular Dystrophy 1 |
|
Type 1 and type 2 muscle fiber minicore regions, Minicore myopathy, Failure to thrive, Generalize... |
OMIM:602771 |
Muscular Dystrophy, Congenital Merosin-Deficient, 1A |
|
Increased endomysial connective tissue, Flexion contracture, Congenital muscular dystrophy |
OMIM:607855 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Proximal upper limb amyotrophy, Proximal muscle weakness in lower limbs, Myopathy, Absent muscle ... |
ORPHA:98855 |
Myopathy, Myosin Storage, Autosomal Recessive |
|
Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Scapuloperoneal amy... |
OMIM:255160 |
Holoprosencephaly-Craniosynostosis Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:2163 |
Cryoglobulinemia, Familial Mixed |
|
Elevated circulating creatinine concentration |
OMIM:123550 |
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Multiple joint contractures, Minicore myopathy, Limb muscle weakness, EMG: myopathic abnormalitie... |
ORPHA:486815 |
Usher Syndrome |
|
Myopathy, Abnormality of retinal pigmentation, Vestibular areflexia |
ORPHA:886 |
Multiple Sulfatase Deficiency |
|
Abnormality of peripheral nerve conduction, Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:585 |
Myopathy, Mitochondrial, And Ataxia |
|
Pigmentary retinopathy, Increased variability in muscle fiber diameter, Distal amyotrophy |
OMIM:617675 |
Classic Multiminicore Myopathy |
|
Increased muscle lipid content, Weakness of facial musculature, Right ventricular hypertrophy, Fa... |
ORPHA:324604 |
C3 Glomerulopathy |
|
Elevated circulating creatinine concentration |
ORPHA:329918 |
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency |
|
Decreased muscle mass, Type 2 muscle fiber atrophy, Skeletal muscle atrophy, Facial palsy, Arthro... |
OMIM:608931 |
Creatine Phosphokinase, Elevated Serum |
|
Abnormal muscle fiber morphology, Myopathy, EMG: myopathic abnormalities, Muscular dystrophy, Inf... |
OMIM:123320 |
Laing Early-Onset Distal Myopathy |
|
Proximal muscle weakness in lower limbs, Abnormal mitochondria in muscle tissue, Toe extensor amy... |
ORPHA:59135 |
Thrombotic Thrombocytopenic Purpura |
|
Decreased serum creatinine |
ORPHA:54057 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Proximal upper limb amyotrophy, Proximal muscle weakness in lower limbs, Myopathy, Absent muscle ... |
ORPHA:98863 |
Scapuloperoneal Spinal Muscular Atrophy |
|
Peroneal muscle atrophy, Scapuloperoneal amyotrophy, Scapular muscle atrophy, Torticollis, Progre... |
OMIM:181405 |
Myopathy, Centronuclear, 2 |
|
Generalized amyotrophy, EMG: myopathic abnormalities, Facial palsy, Scapular winging, Flexion con... |
OMIM:255200 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Elevated circulating creatinine concentration |
OMIM:613095 |
Emery-Dreifuss Muscular Dystrophy |
|
Proximal upper limb amyotrophy, Proximal muscle weakness in lower limbs, Myopathy, Absent muscle ... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Proximal upper limb amyotrophy, Proximal muscle weakness in lower limbs, Myopathy, Absent muscle ... |
ORPHA:98853 |
Mitochondrial Dna-Related Progressive External Ophthalmoplegia |
|
Abnormal mitochondria in muscle tissue, Ragged-red muscle fibers |
ORPHA:663 |
Myopathic Ehlers-Danlos Syndrome |
|
Contractures involving the joints of the feet, Decreased muscle mass, Ankle flexion contracture, ... |
ORPHA:536516 |
Wolfram Syndrome 1 |
|
Optic atrophy, Pigmentary retinopathy |
OMIM:222300 |
Mucopolysaccharidosis, Type Ii |
|
Macroglossia, Papilledema, Abnormality of retinal pigmentation, Flexion contracture |
OMIM:309900 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Skeletal muscle atrophy, Weakness of the intrinsic hand muscles, Triceps weakness, Hip flexor wea... |
ORPHA:98913 |
Neutral Lipid Storage Disease With Myopathy |
|
Myopathy, Increased muscle lipid content |
OMIM:610717 |
Myasthenic Syndrome, Congenital, 5 |
|
Decreased muscle mass, Myopathy, Type 2 muscle fiber atrophy, Limb muscle weakness |
OMIM:603034 |
Aceruloplasminemia |
|
Torticollis, Abnormality of retinal pigmentation, Retinal degeneration, Macular degeneration |
ORPHA:48818 |
Micro Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation, Retinal coloboma |
ORPHA:2510 |
Cancer-Associated Retinopathy |
|
Cutaneous melanoma, Malignant genitourinary tract tumor, Neoplasm of the breast, Hodgkin lymphoma... |
ORPHA:71505 |
Amish Nemaline Myopathy |
|
Proximal amyotrophy, Shoulder flexion contracture, Hip contracture, EMG: myopathic abnormalities,... |
ORPHA:98902 |
Combined Oxidative Phosphorylation Deficiency 28 |
|
Ragged-red muscle fibers |
OMIM:616794 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Abnormal motor neuron morphology, Cranial nerve compression, Generalized amyotrophy, EMG: myopath... |
ORPHA:52430 |
Xeroderma Pigmentosum, Complementation Group B |
|
Freckling, Optic atrophy, Decreased nerve conduction velocity, Pigmentary retinopathy |
OMIM:610651 |
Cap Myopathy |
|
Abnormal muscle fiber morphology, Generalized amyotrophy, Facial palsy, Increased variability in ... |
ORPHA:171881 |
Hereditary Continuous Muscle Fiber Activity |
|
Congenital diaphragmatic hernia, Type 1 muscle fiber predominance |
ORPHA:972 |
Ullrich Congenital Muscular Dystrophy 2 |
|
Facial palsy, Increased variability in muscle fiber diameter, Flexion contracture, Congenital mus... |
OMIM:616470 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Centrally nucleated skeletal muscle fibers, Skeletal muscle autophagosome accumulation, Rimmed va... |
OMIM:619518 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Skeletal muscle atrophy, Right ventricular hypertrophy, Muscular dystrophy, Muscle fiber necrosis... |
OMIM:253700 |
King-Denborough Syndrome |
|
Minicore myopathy, Weakness of facial musculature, Failure to thrive, Muscle fiber atrophy, Centr... |
OMIM:619542 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Muscle fiber atrophy, Muscular dystrophy, Myopathy, Limb-girdle muscular dystrophy |
ORPHA:369840 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Macular atrophy, Abnormality of retinal pigmentation, Retinal thinning, Cone/cone-rod dystrophy, ... |
ORPHA:85167 |
Nephronophthisis 2 |
|
Hyperkalemia, Elevated circulating creatinine concentration |
OMIM:602088 |
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome |
|
Abnormal muscle fiber protein expression |
ORPHA:330054 |
X-Linked Centronuclear Myopathy |
|
Centrally nucleated skeletal muscle fibers, Necklace skeletal muscle fibers, Type 1 fibers relati... |
ORPHA:596 |
Combined Oxidative Phosphorylation Defect Type 13 |
|
Ankle flexion contracture, Type 2 muscle fiber atrophy, Hip contracture, Failure to thrive, Decre... |
ORPHA:319514 |
Glycogen Storage Disease 0, Muscle |
|
Left ventricular hypertrophy, Decreased muscle glycogen content |
OMIM:611556 |
Muscular Hypoplasia, Congenital Universal, Of Krabbe |
|
Abnormal muscle fiber morphology, Hypoplasia of the musculature |
OMIM:159100 |
Histidinemia |
|
Hyperhistidinemia, Histidinuria |
ORPHA:2157 |
Cohen Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation, Chorioretinal dystrophy, Failure to thrive in... |
ORPHA:193 |
Autosomal Recessive Centronuclear Myopathy |
|
Hip contracture, Facial diplegia, Generalized amyotrophy, Facial palsy, Scapular winging, Left ve... |
ORPHA:169186 |
Marinesco-Sjogren Syndrome |
|
Myopathy, Skeletal muscle atrophy, Failure to thrive, Rimmed vacuoles, Flexion contracture, Centr... |
OMIM:248800 |
Werner Syndrome |
|
Abnormality of retinal pigmentation, Skeletal muscle atrophy, Slender build, White forelock, Prem... |
ORPHA:902 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Decreased motor nerve conduction velocity, Decreased muscle mass, Cachexia, Ragged-red muscle fib... |
ORPHA:298 |
Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
|
Myopathy, Achilles tendon contracture, Decreased cervical spine flexion due to contractures of po... |
OMIM:310300 |
Coffin-Lowry Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation, Skeletal muscle atrophy |
ORPHA:192 |
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Increased endomysial connective tissue, Minicore myopathy, Arthrogryposis multiplex congenita, Fl... |
ORPHA:178148 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Failure to thrive, Ragged-red muscle fibers |
OMIM:614924 |
Prolidase Deficiency |
|
White forelock, Abnormality of retinal pigmentation |
ORPHA:742 |
Myopathy, Myofibrillar, 8 |
|
Central core regions in muscle fibers, Limb muscle weakness, Achilles tendon contracture, General... |
OMIM:617258 |
Pantothenate Kinase-Associated Neurodegeneration |
|
Toe extensor amyotrophy, Optic atrophy, Retinal degeneration, Bull's eye maculopathy, Retinal fle... |
ORPHA:157850 |
Cockayne Syndrome Type 1 |
|
Contractures involving the joints of the feet, Optic atrophy, Failure to thrive, Absent brainstem... |
ORPHA:90321 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Optic atrophy, Ragged-red muscle fibers, Failure to thrive, Rod-cone dystrophy, Pigmentary retino... |
ORPHA:255210 |
Sickle Cell Anemia |
|
Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia |
ORPHA:232 |
Relapsing Fever |
|
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... |
ORPHA:91547 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Optic disc pallor, Macroglossia, Failure to thrive, Brushfield spots, Pigmentary retinopathy |
OMIM:214100 |
Autosomal Dominant Cerebellar Ataxia |
|
Skeletal muscle atrophy, Retinal degeneration, Torticollis, Macular degeneration, Pigmentary reti... |
ORPHA:99 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Failure to thrive, Pigmentary retinopathy |
ORPHA:71212 |
Benign Samaritan Congenital Myopathy |
|
Internally nucleated skeletal muscle fibers, Centrally nucleated skeletal muscle fibers |
ORPHA:324581 |
Retinoblastoma |
|
Retinal calcification, Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrh... |
ORPHA:790 |
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Ragged-red muscle fibers, Skeletal muscle atrophy, Achilles tendon contracture, EMG: myopathic ab... |
OMIM:615418 |
Ramon Syndrome |
|
Decreased body weight, Optic disc pallor, Pigmentary retinopathy |
OMIM:266270 |
Autosomal Dominant Centronuclear Myopathy |
|
Proximal muscle weakness in lower limbs, Abnormality of the foot musculature, EMG: myopathic abno... |
ORPHA:169189 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Myopathy, EMG: myopathic abnormalities, Decreased nerve conduction velocity, Increased variabilit... |
ORPHA:397744 |
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities |
|
Decreased motor nerve conduction velocity, Failure to thrive in infancy, Decreased sensory nerve ... |
OMIM:619026 |
Myopathy, Centronuclear, 4 |
|
Centrally nucleated skeletal muscle fibers |
OMIM:614807 |
Arthrogryposis Multiplex Congenita 6 |
|
Nemaline bodies, Neonatal death, Arthrogryposis multiplex congenita, Increased variability in mus... |
OMIM:619334 |
Alstrom Syndrome |
|
Cone/cone-rod dystrophy, Truncal obesity, Pigmentary retinopathy |
OMIM:203800 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Ragged-red muscle fibers, Rod-cone dystrophy |
OMIM:607426 |
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Left ventricular hypertrophy, Myopathy, Ragged-red muscle fibers |
OMIM:540000 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Vitiligo, Perifoveal ring of hyperautofluorescence, Pigmentary retinopathy |
OMIM:240300 |
Melas |
|
Optic atrophy, Abnormal mitochondria in muscle tissue, Ragged-red muscle fibers, Myopathy, Failur... |
ORPHA:550 |
Khan-Khan-Katsanis Syndrome |
|
Failure to thrive, Flexion contracture, Pigmentary retinopathy |
OMIM:618460 |
Hypokalemic Periodic Paralysis |
|
Abnormal muscle fiber morphology, Increased intramyocellular lipid droplets |
ORPHA:681 |
Combined Oxidative Phosphorylation Defect Type 27 |
|
Ragged-red muscle fibers |
ORPHA:477774 |
Lambert-Eaton Myasthenic Syndrome |
|
Small cell lung carcinoma |
ORPHA:43393 |
Greig Cephalopolysyndactyly Syndrome |
|
Abnormal muscle fiber morphology, Camptodactyly of toe, Joint contracture of the hand |
OMIM:175700 |
Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Decreased muscle mass, Viral infection-induced rhabdomyolysis, Skeletal myopathy, EMG: myopathic ... |
ORPHA:57 |
Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Centrally nucleated skeletal muscle fibers, Muscular dystrophy |
OMIM:617066 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Hyperlipidemia |
OMIM:235400 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Elevated circulating creatinine concentration |
OMIM:614376 |
Vocal Cord And Pharyngeal Distal Myopathy |
|
Abnormal morphology of musculature of pharynx, Distal upper limb amyotrophy, Amyotrophic lateral ... |
ORPHA:600 |
Abetalipoproteinemia |
|
Myopathy, Abnormality of retinal pigmentation, Failure to thrive, Hypopigmentation of the fundus,... |
ORPHA:14 |
Trisomy 18 |
|
Congenital diaphragmatic hernia, Abnormality of retinal pigmentation, Cachexia, Camptodactyly of ... |
ORPHA:3380 |
Immune-Mediated Necrotizing Myopathy |
|
Proximal muscle weakness in lower limbs, Myopathy, Skeletal muscle atrophy, Myositis, EMG: myopat... |
ORPHA:206569 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Elevated circulating creatinine concentration, Hyperbilirubinemia |
ORPHA:542323 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Pigmentary retinopathy |
OMIM:612582 |
Amyotrophic Lateral Sclerosis 21 |
|
Amyotrophic lateral sclerosis, Decreased nerve conduction velocity, Shoulder girdle muscle weakne... |
OMIM:606070 |
Acute Interstitial Pneumonia |
|
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentration |
ORPHA:79126 |
Aicardi Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation, Chorioretinal coloboma, Abnormality of skin p... |
ORPHA:50 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Myopathy, Ragged-red muscle fibers, Generalized amyotrophy, Weakness of facial musculature |
ORPHA:352447 |
Diffuse Alveolar Hemorrhage |
|
Elevated circulating creatinine concentration |
ORPHA:90060 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Failure to thrive, Pigmentary retinopathy |
OMIM:277400 |
Typical Nemaline Myopathy |
|
Myopathy, Facial diplegia, Facial palsy, Arthrogryposis multiplex congenita, Flexion contracture,... |
ORPHA:171436 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:274150 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Myopathy, Skeletal muscle atrophy, Failure to thrive, Abnormal muscle glycogen content, Abnormal ... |
ORPHA:367 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Hypopigmented skin patches, Abnormality of retinal pigmentation, Retinal dysplasia, Abnormality o... |
ORPHA:2556 |
Cockayne Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation, Optic disc pallor, Limb hypertonia, Skeletal ... |
ORPHA:191 |
Classic Homocystinuria |
|
Retinal detachment, Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:394 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Ragged-red muscle fibers, Skeletal muscle atrophy, Limb muscle weakness, Facial palsy, EMG: myopa... |
OMIM:157640 |
Severe Congenital Nemaline Myopathy |
|
Skeletal muscle atrophy, Facial diplegia, Facial palsy, Arthrogryposis multiplex congenita, Flexi... |
ORPHA:171430 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Failure to thrive, Ragged-red muscle fibers, Rod-cone dystrophy, Rhabdomyolysis |
OMIM:124000 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Abnormality of the optic nerve, Abnormality of retinal pigmentation, Optic atrophy, Retinal dyspl... |
ORPHA:2526 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Increased variability in muscle fibe... |
OMIM:616867 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Optic atrophy, Retinal degeneration, Failure to thrive, Macular coloboma, Abnormality of macular ... |
ORPHA:79282 |
Cystinosis, Nephropathic |
|
Myopathy, Failure to thrive in infancy, Skeletal muscle atrophy, Retinal pigment epithelial mottl... |
OMIM:219800 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Contractures of the joints of the upper limbs, Cachexia, Skeletal muscle atrophy, Contractures of... |
ORPHA:300605 |
Mucopolysaccharidosis Type 2 |
|
Optic atrophy, Abnormality of retinal pigmentation, Retinal degeneration, Macroglossia, Decreased... |
ORPHA:580 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Facial palsy, Abnormal muscle fiber morphology, Skeletal muscle atrophy |
ORPHA:3068 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Macroglossia, Optic atrophy, Abnormality of retinal pigmentation, Flexion contracture |
ORPHA:505248 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Cachexia, Ragged-red muscle fibers, Weight loss, Slender build, Distal amyotrophy |
OMIM:603041 |
Cartilage-Hair Hypoplasia |
|
Failure to thrive, Aplasia/Hypoplasia of the abdominal wall musculature, Aganglionic megacolon, A... |
ORPHA:175 |
Combined Oxidative Phosphorylation Deficiency 49 |
|
Ragged-red muscle fibers |
OMIM:619024 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Skeletal muscle atrophy, Limb muscle weakness, Muscular dystrophy, Centrally nucleated skeletal m... |
OMIM:616812 |
Neurodegeneration With Brain Iron Accumulation 1 |
|