Cone-Rod Dystrophy 7 |
|
Macular atrophy, Bull's eye maculopathy, Color vision defect, Cone/cone-rod dystrophy, Visual imp... |
OMIM:603649 |
Macular Dystrophy, Retinal, 2 |
|
Granular macular appearance, Central scotoma, Macular dystrophy, Reduced visual acuity, Retinal p... |
OMIM:608051 |
Cholesterol Pneumonia |
|
Death in infancy, Pneumonia, Tachypnea, Cough, Cyanosis |
OMIM:215030 |
Macular Degeneration, Age-Related, 13 |
|
Drusen, Progressive visual loss, Choroidal neovascularization, Macular degeneration, Macular scar |
OMIM:615439 |
Retinitis Pigmentosa 48 |
|
Visual impairment, Rod-cone dystrophy, Macular degeneration |
OMIM:613827 |
Doyne Honeycomb Retinal Dystrophy |
|
Visual impairment, Retinal dystrophy, Reticular pigmentary degeneration |
OMIM:126600 |
Stargardt Disease 3 |
|
Macular atrophy, Macular flecks, Macular dystrophy, Reduced visual acuity, Visual impairment |
OMIM:600110 |
Macular Dystrophy, Retinal, 3 |
|
Macular drusen, Central scotoma, Reduced visual acuity, Retinal pigment epithelial atrophy, Color... |
OMIM:608850 |
Macular Dystrophy, Patterned, 3 |
|
Macular atrophy, Reduced visual acuity, Rod-cone dystrophy, Choroidal neovascularization |
OMIM:617111 |
Bronchopulmonary Dysplasia |
|
Wheezing, Right ventricular failure, Central apnea, Hyperoxemia, Abnormal respiratory system phys... |
ORPHA:70589 |
Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Severely reduced visual acuity, Subretinal deposits, Hyporeflective spaces on macular OCT, Choroi... |
ORPHA:59181 |
Macular Dystrophy, Vitelliform, 2 |
|
Cystoid macular degeneration, Macular dystrophy, Reduced visual acuity, Subretinal fluid, Visual ... |
OMIM:153700 |
Retinal Dysplasia, Primary |
|
Falciform retinal fold, Retinal dysplasia |
OMIM:312550 |
Asbestos Intoxication |
|
Wheezing, Right ventricular failure, Lung adenocarcinoma, Pleural thickening, Exertional dyspnea,... |
ORPHA:2302 |
Retinoschisis, Autosomal Dominant |
|
Abnormality of macular pigmentation, Peripheral retinal degeneration, Retinoschisis |
OMIM:180270 |
Best Vitelliform Macular Dystrophy |
|
Cystoid macular degeneration, Choroideremia, Metamorphopsia, Visual field defect, Color vision de... |
ORPHA:1243 |
Late-Onset Retinal Degeneration |
|
Retinal degeneration, Rod-cone dystrophy, Scotoma, Visual loss, Blindness, Retinopathy, Sub-RPE d... |
OMIM:605670 |
Stargardt Disease 1 |
|
Retinitis pigmentosa inversa, Bull's eye maculopathy, Macular degeneration |
OMIM:248200 |
Leber Congenital Amaurosis 19 |
|
Optic disc pallor, Retinal degeneration, Visual impairment, Attenuation of retinal blood vessels |
OMIM:618513 |
Macular Degeneration, Early-Onset |
|
Choroidal neovascularization, Reduced visual acuity, Macular degeneration |
OMIM:616118 |
Retinal Cone Dystrophy 1 |
|
Retinal degeneration, Progressive visual loss, Bull's eye maculopathy, Color vision defect, Photo... |
OMIM:180020 |
Bothnia Retinal Dystrophy |
|
Retinitis, Retinal degeneration, Progressive visual loss, Central scotoma, Large central visual f... |
ORPHA:85128 |
Mucus Inspissation Of Respiratory Tract |
|
Chronic pulmonary obstruction, Bronchiectasis, Chronic sinusitis, Recurrent respiratory infection... |
OMIM:253240 |
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole |
|
Retinal dystrophy, Reticular pigmentary degeneration, Drusen |
OMIM:267800 |
Ceroid Lipofuscinosis, Neuronal, 6A |
|
Progressive visual loss, Retinal degeneration, Increased neuronal autofluorescent lipopigment |
OMIM:601780 |
Stargardt Disease 4 |
|
Reduced visual acuity, Retinal flecks, Macular degeneration |
OMIM:603786 |
Retinoschisis 1, X-Linked, Juvenile |
|
Macular atrophy, Retinal degeneration, Hypermetropia, Progressive visual loss, Mizuo phenomenon, ... |
OMIM:312700 |
Central Areolar Choroidal Dystrophy |
|
Macular atrophy, Drusen, Hypopigmentation of the fundus, Retinal pigment epithelial mottling, Hyp... |
ORPHA:75377 |
Respiratory Distress Syndrome In Premature Infants |
|
Neonatal respiratory distress, Tachypnea, Respiratory distress, Pulmonary edema, Dyspnea, Atelect... |
OMIM:267450 |
Stargardt Disease |
|
Abnormality of visual evoked potentials, Aplasia/Hypoplasia of the macula, Central scotoma, Retin... |
ORPHA:827 |
Pulmonary Blastoma |
|
Cough, Pulmonary infiltrates, Recurrent pneumonia, Dyspnea, Pleuropulmonary blastoma |
ORPHA:64741 |
Ciliary Dyskinesia, Primary, 29 |
|
Ciliary dyskinesia, Bronchiectasis, Recurrent respiratory infections, Decreased nasal nitric oxid... |
OMIM:615872 |
Exudative Vitreoretinopathy 7 |
|
Vitreoretinopathy, Retinal degeneration, Retinal hole |
OMIM:617572 |
Leber Congenital Amaurosis With Early-Onset Deafness |
|
High hypermetropia, Reduced visual acuity, Retinal degeneration |
OMIM:617879 |
Macular Degeneration, X-Linked Atrophic |
|
Reduced visual acuity, Macular degeneration |
OMIM:300834 |
Ciliary Dyskinesia, Primary, 21 |
|
Neonatal respiratory distress, Ciliary dyskinesia, Bronchiectasis, Chronic sinusitis, Recurrent p... |
OMIM:615294 |
Peripheral Cone Dystrophy |
|
Optic atrophy, Pericentral scotoma, Optic disc pallor, Peripheral retinal degeneration, Paracentr... |
OMIM:609021 |
Retinitis Pigmentosa 31 |
|
Retinal pigment epithelial atrophy, Visual field defect, Rod-cone dystrophy, Attenuation of retin... |
OMIM:609923 |
Cone-Rod Dystrophy 22 |
|
Hypoautofluorescent retinal lesion, Bull's eye maculopathy, Hyperautofluorescent macular lesion, ... |
OMIM:619531 |
Exfoliation Syndrome |
|
Mydriasis, Abnormality of the lens, Lens subluxation, Phakodonesis, Iris hypoperfusion, Retinal v... |
OMIM:177650 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Neonatal respiratory distress, Desquamative interstitial pneumonitis, Death in infancy, Tachypnea... |
OMIM:265120 |
Infant Acute Respiratory Distress Syndrome |
|
Hypoxemia, Pneumonia, Tachypnea, Bradycardia, Tachycardia, Respiratory tract infection, Pulmonary... |
ORPHA:70587 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Bronchiectasis, Respiratory distress, Abnormal mucociliary clearance, Recurrent respiratory infec... |
OMIM:619466 |
Cone-Rod Dystrophy 5 |
|
Reduced visual acuity, Cone dystrophy, Macular degeneration, Color vision defect, Photophobia, Co... |
OMIM:600977 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
High hypermetropia, Retinal degeneration |
OMIM:251700 |
Retinal Degeneration And Epilepsy |
|
Retinal degeneration |
OMIM:267740 |
Retinitis Pigmentosa Inversa With Deafness |
|
Retinitis pigmentosa inversa, Blindness, Rod-cone dystrophy |
OMIM:268010 |
Retinitis Pigmentosa 32 |
|
Pigmentary retinopathy, Photoreceptor layer loss on macular OCT, Optic disc pallor, Retinal degen... |
OMIM:609913 |
Retinitis Pigmentosa 36 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular degenerat... |
OMIM:610599 |
Retinopathy, Pericentral Pigmentary, Dominant |
|
Attenuation of retinal blood vessels, Retinal dystrophy, Bone spicule pigmentation of the retina,... |
OMIM:180210 |
Cyanosis And Hepatic Disease |
|
Cyanosis, Dyspnea |
OMIM:219400 |
Retinitis Pigmentosa 13 |
|
Retinal degeneration, Hypopigmentation of the fundus, Rod-cone dystrophy, Constriction of periphe... |
OMIM:600059 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Neonatal respiratory distress, Desquamative interstitial pneumonitis, Death in infancy, Nonspecif... |
OMIM:610921 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Desquamative interstitial pneumonitis, Tachypnea, Cough, Respiratory distress, Recurrent upper re... |
OMIM:263000 |
Ceroid Lipofuscinosis, Neuronal, 2 |
|
Increased extraneuronal autofluorescent lipopigment, Retinal degeneration, Increased neuronal aut... |
OMIM:204500 |
Cone-Rod Dystrophy 13 |
|
Reduced visual acuity, Macular degeneration, Color vision defect, Photophobia, Cone/cone-rod dyst... |
OMIM:608194 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Optic disc pallor, Abnormal flash visual evoked potentials, Peripapillary atrophy, Reduced visual... |
OMIM:618195 |
Rowley-Rosenberg Syndrome |
|
Hypertension, Pulmonary arterial hypertension, Reduced subcutaneous adipose tissue, Recurrent pne... |
OMIM:268500 |
Pulmonary Nodular Lymphoid Hyperplasia |
|
Nodular pattern on pulmonary HRCT, Dyspnea, Ground-glass opacification, Cough |
ORPHA:60026 |
Hyperleucine-Isoleucinemia |
|
Retinal degeneration |
OMIM:238340 |
Wagner Vitreoretinopathy |
|
Optic atrophy, Myopia, Vitreoretinopathy, Exudative vitreoretinopathy, Optically empty vitreous, ... |
OMIM:143200 |
Bietti Crystalline Dystrophy |
|
Severely reduced visual acuity, Subretinal deposits, Central scotoma, Large central visual field ... |
ORPHA:41751 |
Apnea, Central Sleep |
|
Cyanosis, Sleep apnea, Irregular respiration, Abnormal pattern of respiration |
OMIM:207720 |
Achromatopsia |
|
Myopia, Monochromacy, Hypermetropia, Hypoplasia of the fovea, Central scotoma, Retinal pigment ep... |
ORPHA:49382 |
Acute Interstitial Pneumonia |
|
Reticulonodular pattern on pulmonary HRCT, Hypoxemia, Subpleural honeycombing, Hypertension, Crac... |
ORPHA:79126 |
Cone-Rod Dystrophy 11 |
|
Macular atrophy, Bull's eye maculopathy, Macular degeneration, Photophobia, Cone/cone-rod dystrop... |
OMIM:610381 |
Recurrent Respiratory Papillomatosis |
|
Wheezing, Syncope, Stridor, Respiratory insufficiency, Tachypnea, Upper airway obstruction, Respi... |
ORPHA:60032 |
Meconium Aspiration Syndrome |
|
Wheezing, Hypoxemia, Pulmonary insufficiency, Atelectasis, Transient pulmonary infiltrates, Pneum... |
ORPHA:70588 |
Ciliary Dyskinesia, Primary, 33 |
|
Ciliary dyskinesia, Bronchiectasis, Recurrent bronchitis, Chronic rhinitis, Cough, Recurrent lowe... |
OMIM:616726 |
Macular Dystrophy, Vitelliform, 3 |
|
Macular atrophy, Drusen, Metamorphopsia, Choroidal neovascularization, Macular dystrophy, Reduced... |
OMIM:608161 |
Atrophia Maculosa Varioliformis Cutis, Familial |
|
Macular atrophy |
OMIM:601341 |
Uveal Melanoma |
|
Abnormal fundus morphology, Mydriasis, Retinal detachment, Vitreous hemorrhage, Zonular cataract,... |
ORPHA:39044 |
Cone-Rod Dystrophy, X-Linked, 1 |
|
Hypoautofluorescent macular lesion, Myopia, Reduced visual acuity, Retinal pigment epithelial mot... |
OMIM:304020 |
Retinitis Pigmentosa 33 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal pigment e... |
OMIM:610359 |
Mental Retardation, Autosomal Dominant 33 |
|
Hyperactivity, Chorioretinal degeneration |
OMIM:616311 |
Thrombophilia Due To Protein C Deficiency, Autosomal Dominant |
|
Pulmonary embolism, Warfarin-induced skin necrosis |
OMIM:176860 |
Macular Degeneration, Age-Related, 11 |
|
Macular degeneration |
OMIM:611953 |
Macular Degeneration, Age-Related, 4 |
|
Macular degeneration |
OMIM:610698 |
Macular Degeneration, Age-Related, 2 |
|
Macular degeneration |
OMIM:153800 |
Macular Dystrophy, Retinal, 1, North Carolina Type |
|
Peripheral retinal atrophy, Drusen, Central scotoma, Macular dystrophy, Reduced visual acuity, Ab... |
OMIM:136550 |
Macular Degeneration, Age-Related, 6 |
|
Macular degeneration |
OMIM:613757 |
Familial Nasal Acilia |
|
Bronchiectasis, Chronic rhinitis, Chronic sinusitis, Respiratory distress, Recurrent upper respir... |
ORPHA:922 |
Liberfarb Syndrome |
|
Optic disc pallor, Retinal degeneration, Bone spicule pigmentation of the retina, Retinal pigment... |
OMIM:618889 |
Retinitis Pigmentosa 11 |
|
Macular atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Reduced visual acuit... |
OMIM:600138 |
Retinitis Pigmentosa 38 |
|
Peripheral retinal atrophy, Macular atrophy, Optic disc pallor, Progressive visual loss, Rod-cone... |
OMIM:613862 |
Retinitis Pigmentosa 70 |
|
Optic disc pallor, Retinal degeneration, Nyctalopia, Rod-cone dystrophy |
OMIM:615922 |
Retinitis Pigmentosa 68 |
|
Nyctalopia, Visual field defect, Retinal atrophy, Rod-cone dystrophy |
OMIM:615725 |
Usher Syndrome, Type Iv |
|
Retinal degeneration, Bone spicule pigmentation of the retina, Hyperautofluorescent macular lesio... |
OMIM:618144 |
Chronic Pneumonitis Of Infancy |
|
Hypoxemia, Tachypnea, Ground-glass opacification, Cough, Respiratory distress, Cyanosis, Intercos... |
ORPHA:91359 |
Tracheopathia Osteoplastica |
|
Wheezing, Dyspnea, Recurrent pneumonia, Cough |
OMIM:189961 |
Emphysema, Congenital Lobar |
|
Respiratory distress |
OMIM:130710 |
Acute Zonal Occult Outer Retinopathy |
|
Vitreous inflammatory cells, Macular drusen, Abnormal fundus fluorescein angiography, Retinal pig... |
ORPHA:284454 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Desquamative interstitial pneumonitis, Nonspecific interstitial pneumonia, Spontaneous pneumothor... |
OMIM:610913 |
Retinitis Pigmentosa 80 |
|
Progressive visual loss, Macular atrophy, Blindness |
OMIM:617781 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness |
|
Chronic sinusitis, Atelectasis, Recurrent bronchitis |
OMIM:300455 |
Hypomyelination Neuropathy-Arthrogryposis Syndrome |
|
Respiratory distress |
ORPHA:2680 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Wheezing, Hypoxemia, Crackles, Abnormal pulmonary thoracic imaging finding, Hypersensitivity pneu... |
ORPHA:2902 |
Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Bronchiolitis obliterans, Hypoxemia, Reduced forced expiratory volume in one second, Pneumonia, B... |
ORPHA:1303 |
Cone-Rod Dystrophy 15 |
|
Progressive visual loss, Rod-cone dystrophy, Retinal pigment epithelial atrophy, Constriction of ... |
OMIM:613660 |
Retinitis Pigmentosa 90 |
|
Bone spicule pigmentation of the retina, Reduced visual acuity, Retinal pigment epithelial atroph... |
OMIM:619007 |
Bestrophinopathy, Autosomal Recessive |
|
Retinal pigment epithelial atrophy, Reduced visual acuity, Hypermetropia, Retinal flecks |
OMIM:611809 |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Macular atrophy, Hypermetropia, Retinal degeneration, Constriction of peripheral visual field, Ny... |
OMIM:267760 |
Laryngotracheal Angioma |
|
Wheezing, Stridor, Apnea, Cough, Respiratory distress, Cyanosis, Intercostal retractions |
ORPHA:137935 |
Achromatopsia 7 |
|
Macular atrophy, Hypoplasia of the fovea, Central scotoma, Reduced visual acuity, Absent foveal r... |
OMIM:616517 |
Cone Dystrophy 3 |
|
Macular atrophy, Progressive visual loss, Reduced visual acuity, Photophobia, Cone/cone-rod dystr... |
OMIM:602093 |
Lethal Congenital Contracture Syndrome 3 |
|
Neonatal death, Respiratory insufficiency |
OMIM:611369 |
Familial Drusen |
|
Hypoautofluorescent macular lesion, Macular atrophy, Abnormality of retinal pigmentation, Macular... |
ORPHA:75376 |
Ophthalmoplegia, External, And Myopia |
|
Myopia, Retinal degeneration, Chorioretinal degeneration |
OMIM:311000 |
Retinitis Pigmentosa 19 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Reduced visual acuity, Visual impairm... |
OMIM:601718 |
Ciliary Dyskinesia, Primary, 20 |
|
Ciliary dyskinesia, Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance,... |
OMIM:615067 |
Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Optic atrophy, Cerebellar atrophy, Retinal degeneration |
OMIM:614322 |
Morm Syndrome |
|
Retinal dystrophy, Progressive night blindness, Visual impairment, Retinal atrophy |
ORPHA:75858 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Retinitis Pigmentosa 37 |
|
Rod-cone dystrophy, Red-green dyschromatopsia, Nyctalopia, Pigmentary retinopathy, Photophobia, C... |
OMIM:611131 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Wheezing, Hypoxemia, Neonatal respiratory distress, Crackles, Tachypnea, Elevated bronchoalveolar... |
OMIM:610978 |
Microphthalmia, Isolated 5 |
|
Foveoschisis, Hypermetropia, Drusen, Optic disc drusen, Bone spicule pigmentation of the retina, ... |
OMIM:611040 |
Seizures, Benign Familial Infantile, 3 |
|
Cyanosis, Apnea |
OMIM:607745 |
Pulmonary Capillary Hemangiomatosis |
|
Right ventricular failure, Hypoxemia, Pulmonary capillary hemangiomatosis, Centrilobular ground-g... |
ORPHA:199241 |
Bietti Crystalline Corneoretinal Dystrophy |
|
Retinal degeneration, Progressive visual loss, High myopia, Paracentral scotoma, Constriction of ... |
OMIM:210370 |
Central Retinal Vein Occlusion |
|
Intraretinal hemorrhage, Large central visual field defect, Macular edema, Macular degeneration, ... |
ORPHA:411527 |
Ceroid Lipofuscinosis, Neuronal, 1 |
|
Optic atrophy, Retinal degeneration, Increased neuronal autofluorescent lipopigment, Progressive ... |
OMIM:256730 |
Retinitis Pigmentosa 27 |
|
Macular atrophy, Peripapillary chorioretinal atrophy, Visual impairment, Macular edema, Rod-cone ... |
OMIM:613750 |
Retinal Dystrophy And Obesity |
|
Myopia, Retinal dystrophy, Peripapillary atrophy, Reduced visual acuity, Retinal pigment epitheli... |
OMIM:616188 |
Cone-Rod Dystrophy 16 |
|
Macular atrophy, Optic disc pallor, Progressive visual loss, Bone spicule pigmentation of the ret... |
OMIM:614500 |
Macular Degeneration, Age-Related, 1 |
|
Macular drusen, Progressive visual loss, Choroidal neovascularization, Macular degeneration, Macu... |
OMIM:603075 |
Pulmonary Venoocclusive Disease 2, Autosomal Recessive |
|
Pulmonary capillary hemangiomatosis, Centrilobular ground-glass opacification on pulmonary HRCT, ... |
OMIM:234810 |
Bothnia Retinal Dystrophy |
|
Retinal dystrophy, Nyctalopia, Macular degeneration |
OMIM:607475 |
Leber Congenital Amaurosis 15 |
|
Myopia, Optic disc pallor, Retinal degeneration, Hypermetropia, Visual impairment, Rod-cone dystr... |
OMIM:613843 |
Idiopathic Acute Eosinophilic Pneumonia |
|
Respiratory insufficiency, Abnormal pattern of respiration, Cough, Pulmonary infiltrates, Abnorma... |
ORPHA:724 |
Metaphyseal Dysplasia, Anetoderma, And Optic Atrophy |
|
Optic atrophy, Macular atrophy, Cranial nerve compression |
OMIM:250450 |
Cryptogenic Organizing Pneumonia |
|
Wheezing, Hypoxemia, Bronchial breath sound, Crackles, Pneumothorax, Ground-glass opacification, ... |
ORPHA:1302 |
X-Linked Retinal Dysplasia |
|
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Visual impairment, Ret... |
ORPHA:1852 |
Seizures, Benign Familial Infantile, 1 |
|
Cyanosis, Apnea |
OMIM:601764 |
Tracheobronchopathia Osteochondroplastica |
|
Wheezing, Productive cough, Stridor, Respiratory insufficiency, Pneumonia, Upper airway obstructi... |
ORPHA:3348 |
Pulmonary Alveolar Proteinosis, Acquired |
|
Hypoxemia, Lung abscess, Pneumonia, Cough, Cyanosis, Recurrent respiratory infections, Decreased ... |
OMIM:610910 |
Antithrombin Iii Deficiency |
|
Pulmonary embolism, Arterial occlusion |
OMIM:613118 |
Retinitis Pigmentosa 88 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Reduced visual acuity, Macular degene... |
OMIM:618826 |
Retinitis Pigmentosa 73 |
|
Constriction of peripheral visual field, Nyctalopia, Retinal atrophy, Rod-cone dystrophy |
OMIM:616544 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Wheezing, Hypoxemia, Honeycomb lung, Chronic pulmonary obstruction, Chronic bronchitis, Bronchiec... |
ORPHA:79127 |
Mental Retardation, Autosomal Dominant 45 |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617600 |
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome |
|
Peripheral retinal atrophy, Retinal dystrophy, Reduced visual acuity, Absent foveal reflex, Visua... |
OMIM:615147 |
Idiopathic Pulmonary Fibrosis |
|
Pulmonary insufficiency, Honeycomb lung, Crackles, Bronchiectasis, Ground-glass opacification, Co... |
ORPHA:2032 |
Progressive Bifocal Chorioretinal Atrophy |
|
Myopia, Macular atrophy, Chorioretinal dystrophy, Pigmentary retinopathy, Visual impairment |
ORPHA:75373 |
Pulmonary Venoocclusive Disease 1, Autosomal Dominant |
|
Pulmonary venous occlusion, Centrilobular ground-glass opacification on pulmonary HRCT, Interlobu... |
OMIM:265450 |
Anterior Segment Dysgenesis 8 |
|
Persistent pupillary membrane, Hypoplasia of the iris, Ectopia lentis, Microphakia, Iris transill... |
OMIM:617319 |
Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Dyspnea, Aspiration pneumonia, Upper airway obstruction |
ORPHA:141152 |
Ceroid Lipofuscinosis, Neuronal, 5 |
|
Progressive visual loss, Cerebellar atrophy, Retinal degeneration, Increased neuronal autofluores... |
OMIM:256731 |
Developmental And Epileptic Encephalopathy 28 |
|
Optic atrophy, Retinal degeneration, Cerebral atrophy |
OMIM:616211 |
Oguchi Disease |
|
Myopia, Congenital stationary night blindness, Mizuo phenomenon, Rod-cone dystrophy, Macular dege... |
ORPHA:75382 |
Birdshot Chorioretinopathy |
|
Photoreceptor layer loss on macular OCT, Optic disc pallor, Vitreous floaters, Photophobia, Choro... |
ORPHA:179 |
Fundus Dystrophy, Pseudoinflammatory, Recessive Form |
|
Myopia, Progressive visual loss, Peripheral retinal degeneration, Central retinal exudate, Dyschr... |
OMIM:264420 |
Cone-Rod Dystrophy 21 |
|
Macular atrophy, Retinal dystrophy, Reduced visual acuity, Photophobia, Nyctalopia |
OMIM:616502 |
Congenital Lobar Emphysema |
|
Respiratory distress, Emphysema |
ORPHA:1928 |
Interstitial Lung Disease 2 |
|
Elevated bronchoalveolar lavage fluid neutrophil proportion, Pulmonary arterial hypertension, Cou... |
OMIM:178500 |
Pleural Mesothelioma |
|
Abnormal respiratory system physiology, Cough, Respiratory distress, Abnormal cardiovascular syst... |
ORPHA:50251 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Crazy paving pattern, Hypoxemia, Crackles, Tachypnea, Cough, Tachycardia, Respiratory distress, A... |
ORPHA:264675 |
Cone-Rod Dystrophy 2 |
|
Macular hyperpigmentation, Metamorphopsia, Central scotoma, Bone spicule pigmentation of the reti... |
OMIM:120970 |
Ceroid Lipofuscinosis, Neuronal, 3 |
|
Optic atrophy, Increased extraneuronal autofluorescent lipopigment, Increased neuronal autofluore... |
OMIM:204200 |
Senior-Loken Syndrome 7 |
|
Retinal degeneration |
OMIM:613615 |
Bardet-Biedl Syndrome 16 |
|
Retinal degeneration, Rod-cone dystrophy |
OMIM:615993 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Microcoria, Chorioretinal coloboma, Iris coloboma |
OMIM:616428 |
X-Linked Neurodegenerative Syndrome, Bertini Type |
|
Macular degeneration |
ORPHA:85334 |
Leber Congenital Amaurosis 4 |
|
Macular atrophy, Optic disc pallor, Reduced visual acuity, Blindness, Attenuation of retinal bloo... |
OMIM:604393 |
Congenital Pulmonary Lymphangiectasia |
|
Chronic pulmonary obstruction, Pulmonary arterial hypertension, Cough, Tricuspid regurgitation, P... |
ORPHA:2414 |
Bardet-Biedl Syndrome 21 |
|
Myopia, Hypoplasia of the fovea, Retinal atrophy, Hyperautofluorescent macular lesion, Rod-cone d... |
OMIM:617406 |
Laryngotracheoesophageal Cleft |
|
Neonatal respiratory distress, Stridor, Cough, Aspiration, Recurrent respiratory infections, Cyan... |
ORPHA:2004 |
Retinitis Pigmentosa 9 |
|
Macular atrophy, Bone spicule pigmentation of the retina, Macular edema, Rod-cone dystrophy, Cons... |
OMIM:180104 |
Ectopia Lentis Et Pupillae |
|
Retinal detachment, Persistent pupillary membrane, Cataract, Ectopia lentis |
OMIM:225200 |
Bardet-Biedl Syndrome 4 |
|
Retinal degeneration, Nyctalopia, Rod-cone dystrophy |
OMIM:615982 |
Severe Acute Respiratory Syndrome |
|
Hypoxemia, Cough, Respiratory distress, Acute infectious pneumonia, Chronic lung disease, Dyspnea... |
ORPHA:140896 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Hypertrophic cardiomyopathy, Respiratory distress, Cyanosis, Low-output congestive heart failure |
ORPHA:91130 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Subretinal exudate, Exudative vitreoretinopathy, Reduced visual acuity, Retinal hole, Peripheral ... |
OMIM:305390 |
Autosomal Recessive Ataxia Due To Pex10 Deficiency |
|
Mydriasis, Progressive gait ataxia, Progressive cerebellar ataxia, Truncal ataxia, Limb ataxia |
ORPHA:247815 |
Retinitis Pigmentosa 51 |
|
High myopia, Bone spicule pigmentation of the retina, Reduced visual acuity, Visual impairment, R... |
OMIM:613464 |
Pulmonary Hemosiderosis |
|
Pulmonary fibrosis, Respiratory insufficiency, Recurrent intrapulmonary hemorrhage, Transient pul... |
OMIM:178550 |
Familial Exudative Vitreoretinopathy |
|
Rhegmatogenous retinal detachment, Tractional retinal detachment, Vitreous floaters, Vitreoretino... |
ORPHA:891 |
Thrombophilia Due To Protein S Deficiency, Autosomal Dominant |
|
Purpura, Pulmonary embolism, Warfarin-induced skin necrosis |
OMIM:612336 |
Nephronophthisis 15 |
|
Blindness, Retinal degeneration |
OMIM:614845 |
Lattice Degeneration Of Retina Leading To Retinal Detachment |
|
Retinal detachment, Lattice retinal degeneration |
OMIM:150500 |
Optic Atrophy 1 |
|
Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Central scotoma, ... |
OMIM:165500 |
Chorioretinal Atrophy, Progressive Bifocal |
|
Myopia, Chorioretinal dystrophy, Retinal detachment, Chorioretinal atrophy, Visual impairment |
OMIM:600790 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Hyperactivity |
OMIM:617028 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Epilepsy, Pyridoxine-Dependent |
|
Respiratory distress, Neonatal respiratory distress |
OMIM:266100 |
Pupillary Membrane, Persistence Of |
|
Developmental cataract, Persistent pupillary membrane, Megalocornea |
OMIM:178900 |
Surfactant Metabolism Dysfunction, Pulmonary, 5 |
|
Respiratory insufficiency, Interlobular septal thickening, Ground-glass opacification, Exertional... |
OMIM:614370 |
Encephalopathy With Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, And Retinal Degeneration |
|
Retinal degeneration |
OMIM:225755 |
Acute Lung Injury |
|
Shock, Hypoxemia, Pneumonia, Tachypnea, Respiratory distress, Abnormal pulmonary interstitial mor... |
ORPHA:178320 |
Developmental And Epileptic Encephalopathy 30 |
|
Respiratory distress, Death in infancy |
OMIM:616341 |
Spondylometaphyseal Dysplasia, Axial |
|
Optic atrophy, Retinal degeneration, Rod-cone dystrophy |
OMIM:602271 |
Intellectual Developmental Disorder With Cardiac Arrhythmia |
|
Retinal degeneration |
OMIM:617173 |
Oliver-Mcfarlane Syndrome |
|
Retinal degeneration, Pigmentary retinopathy |
OMIM:275400 |
Oculorenocerebellar Syndrome |
|
Retinal degeneration |
OMIM:257970 |
Vitreoretinopathy, Neovascular Inflammatory |
|
Vitreoretinopathy, Large hyperpigmented retinal spots, Peripheral retinal neovascularization, Ret... |
OMIM:193235 |
Retinitis Pigmentosa 77 |
|
Reduced visual acuity, Rod-cone dystrophy, Cystoid macular edema, Nyctalopia, Retinal atrophy |
OMIM:617304 |
Canavan Disease |
|
Optic atrophy, Abnormality of retinal pigmentation, Abnormality of visual evoked potentials, Blin... |
ORPHA:141 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Mental Retardation, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
Exudative Vitreoretinopathy 3 |
|
Retinal fold, Exudative vitreoretinopathy, Reduced visual acuity, Retinal hole, Retinal exudate, ... |
OMIM:605750 |
Diabetes And Deafness, Maternally Inherited |
|
Constriction of peripheral visual field, Retinal degeneration, Pigmentary retinopathy |
OMIM:520000 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
Hypobetalipoproteinemia, Familial, 1 |
|
Decreased LDL cholesterol concentration, Retinal degeneration, Rod-cone dystrophy |
OMIM:615558 |
Adult-Onset Foveomacular Vitelliform Dystrophy |
|
Retinal nonattachment, Choroideremia, Visual field defect, Abnormality of vision, Color vision de... |
ORPHA:99000 |
Macular Degeneration, Age-Related, 3 |
|
Choroidal neovascularization, Macular degeneration, Decreased nerve conduction velocity, Drusen |
OMIM:608895 |
Retinitis Pigmentosa 79 |
|
Macular atrophy, Optic disc pallor, Reduced visual acuity, Constriction of peripheral visual fiel... |
OMIM:617460 |
Cataract 21, Multiple Types |
|
Cerulean cataract, Cortical pulverulent cataract, Iris coloboma, Macular hypoplasia, Retinal deta... |
OMIM:610202 |
Exudative Vitreoretinopathy 1 |
|
Exudative vitreoretinopathy, Reduced visual acuity, Peripheral retinal avascularization, Retinal ... |
OMIM:133780 |
Optic Atrophy 8 |
|
Optic atrophy, Abnormal auditory evoked potentials, Central scotoma, Visual impairment, Visual lo... |
OMIM:616648 |
Succinic Acidemia |
|
Respiratory distress |
OMIM:600335 |
Hypotaurinemic Retinal Degeneration And Cardiomyopathy |
|
High hypermetropia, Peripheral retinal atrophy, Macular atrophy, Photoreceptor layer loss on macu... |
OMIM:145350 |
Cone Dystrophy, X-Linked, With Tapetal-Like Sheen |
|
Visual loss, Retinal detachment, Cone/cone-rod dystrophy, Cone dystrophy |
OMIM:304030 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Macular atrophy, Chorioretinal coloboma, Retinal dystrophy, Miosis, Iris coloboma, Retinal detach... |
OMIM:212550 |
Retinal Cone Dystrophy 3B |
|
Myopia, Macular atrophy, Scotoma, Photophobia, Cone/cone-rod dystrophy, Nyctalopia |
OMIM:610356 |
Laryngeal Web, Familial |
|
Respiratory distress, Recurrent upper respiratory tract infections, Stridor |
OMIM:150360 |
Heparin-Induced Thrombocytopenia |
|
Myocardial infarction, Pulmonary embolism, Cerebral ischemia, Abnormal onset of bleeding |
ORPHA:3325 |
Mucolipidosis Iv |
|
Optic atrophy, Cerebellar atrophy, Retinal degeneration, Photophobia, Visual impairment |
OMIM:252650 |
Coats Disease |
|
Aplasia/Hypoplasia of the iris, Abnormal retinal vascular morphology, Retinal detachment, Catarac... |
ORPHA:190 |
Retinitis Punctata Albescens |
|
Pigmentary retinopathy, Macular atrophy, Retinal atrophy, Progressive visual loss, Central scotom... |
ORPHA:52427 |
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome |
|
Acrocyanosis |
ORPHA:86918 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 |
|
Syncope, Ventricular arrhythmia, Palpitations, Sudden cardiac death, Dyspnea, Right ventricular c... |
OMIM:610476 |
Thrombophilia Due To Thrombin Defect |
|
Pulmonary embolism |
OMIM:188050 |
Bronchogenic Cyst |
|
Pneumonia, Bronchogenic cyst, Cough, Pulmonary cyst, Abnormal pleura morphology, Dyspnea, Abnorma... |
ORPHA:2357 |
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia |
|
Rhegmatogenous retinal detachment, Lattice retinal degeneration |
OMIM:619248 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Optic atrophy, Macular atrophy, Optic disc pallor, Cerebellar atrophy, Retinopathy, Cerebral atro... |
OMIM:616171 |
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Respiratory distress |
ORPHA:171703 |
Retinitis Pigmentosa 41 |
|
Pigmentary retinopathy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dyst... |
OMIM:612095 |
Retinitis Pigmentosa 86 |
|
Optic disc pallor, Progressive visual loss, Bone spicule pigmentation of the retina, Retinal pigm... |
OMIM:618613 |
Cherubism |
|
Marcus Gunn pupil, Optic neuropathy, Macular scar |
OMIM:118400 |
Venular Insufficiency, Systemic |
|
Cyanosis |
OMIM:192700 |
Sulfhemoglobinemia, Congenital |
|
Cyanosis |
OMIM:185460 |
Exudative Vitreoretinopathy 6 |
|
Myopia, Exudative vitreoretinopathy, Progressive visual loss, Retinal detachment, Posterior vitre... |
OMIM:616468 |
Cone-Rod Dystrophy, X-Linked, 3 |
|
Myopia, Optic disc pallor, Central scotoma, Reduced visual acuity, Retinal detachment, Abnormalit... |
OMIM:300476 |
Cardiomyopathy, Familial Hypertrophic, 15 |
|
Hypertrophic cardiomyopathy, Dyspnea, Congestive heart failure |
OMIM:613255 |
Neuralgic Amyotrophy |
|
Acrocyanosis, Respiratory insufficiency |
ORPHA:2901 |
Obesity-Hypoventilation Syndrome |
|
Cyanosis, Hypoventilation |
OMIM:257500 |
Severe Early-Childhood-Onset Retinal Dystrophy |
|
Rhegmatogenous retinal detachment, Optic disc drusen, Retinal pigment epithelial mottling, Retina... |
ORPHA:364055 |
Staphylococcal Necrotizing Pneumonia |
|
Shock, Hypoxemia, Pneumonia, Tachypnea, Pneumothorax, Pulmonary pneumatocele, Cough, Pleural empy... |
ORPHA:36238 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Chronic pulmonary obstruction, Crackles, Bronchiectasis, Pneumothorax, Cough, Respiratory distres... |
ORPHA:411703 |
Pulmonary Arteriovenous Malformation |
|
Hypoxemia, Telangiectasia, Palpitations, Epistaxis, Pulmonary arterial hypertension, Cough, Pulmo... |
ORPHA:2038 |
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Neonatal respiratory distress, Interstitial pneumonitis, Tachypnea, Spontaneous neonatal pneumoth... |
ORPHA:217563 |
Irvan Syndrome |
|
Optic atrophy, Tractional retinal detachment, Vitreous floaters, Reduced visual acuity, Macular e... |
ORPHA:209943 |
Immunodeficiency 8 |
|
Hyperactivity |
OMIM:615401 |
Vitreoretinochoroidopathy |
|
Abnormality of chorioretinal pigmentation, Retinal detachment, Vitreous hemorrhage, Retinal neova... |
OMIM:193220 |
Late-Onset Retinal Degeneration |
|
Multifocal subretinal deposits, Macular atrophy, Patchy atrophy of the retinal pigment epithelium... |
ORPHA:67042 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Bronchiolitis, Exertional dyspnea, Pulmonary fibrosis, Right bundle branch block, Atelectasis |
ORPHA:254361 |
Sjogren-Larsson Syndrome |
|
Retinal pigment epithelial atrophy, Photophobia, Retinal thinning, Macular degeneration |
OMIM:270200 |
Slc35A1-Cdg |
|
Hypoxemia, Pneumonia, Pulmonary hemorrhage, Subcutaneous hemorrhage, Respiratory distress, Prolon... |
ORPHA:238459 |
Hsd10 Mitochondrial Disease |
|
Visual loss, Optic atrophy, Retinal degeneration, Cerebral cortical atrophy |
OMIM:300438 |
Bullous Dystrophy, Hereditary Macular Type |
|
Acrocyanosis, Death in childhood |
OMIM:302000 |
Monosodium Glutamate Sensitivity |
|
Palpitations, Dyspnea, Flushing |
OMIM:231630 |
Gaucher Disease Type 2 |
|
Abnormal pattern of respiration, Cough, Respiratory distress, Cardiac arrest, Recurrent respirato... |
ORPHA:77260 |
Sarcoidosis, Susceptibility To, 2 |
|
Hypoxemia, Bronchiectasis, Pneumothorax, Pulmonary arterial hypertension, Elevated bronchoalveola... |
OMIM:612387 |
Perching Syndrome |
|
Respiratory distress |
OMIM:617055 |
Poretti-Boltshauser Syndrome |
|
Myopia, Retinal atrophy, Retinal dystrophy, Amblyopia, Retinal thinning |
OMIM:615960 |
Cone-Rod Dystrophy And Hearing Loss 1 |
|
Photophobia, Hemeralopia, Macular degeneration, Dyschromatopsia, Visual impairment, Retinal atrophy |
OMIM:617236 |
Eales Disease |
|
Rhegmatogenous retinal detachment, Optic disc pallor, Tractional retinal detachment, Vitreous flo... |
ORPHA:40923 |
Retinitis Pigmentosa 50 |
|
Optic disc pallor, Reduced visual acuity, Retinal flecks, Rod-cone dystrophy, Retinal detachment,... |
OMIM:613194 |
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema |
|
Angioedema, Erythema, Upper airway obstruction, Respiratory distress, Abnormal capillary physiology |
ORPHA:100057 |
Cleft Larynx, Posterior |
|
Cyanosis, Aspiration |
OMIM:215800 |
Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Hemosiderin-laden macrophages in bronchoalveolar fluid, Tachypnea, Cough, Pulmonary hemorrhage, A... |
OMIM:616414 |
Alpha-1-Antitrypsin Deficiency |
|
Wheezing, Chronic pulmonary obstruction, Chronic bronchitis, Panacinar emphysema, Dyspnea |
OMIM:613490 |
Retinitis Pigmentosa 10 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Reduced visual acuity, Rod-cone dystr... |
OMIM:180105 |
Ceroid Lipofuscinosis, Neuronal, 10 |
|
Cerebellar atrophy, Increased neuronal autofluorescent lipopigment, Neuronal loss in central nerv... |
OMIM:610127 |
Cone-Rod Dystrophy 8 |
|
Abnormality of the optic nerve, Abnormality of retinal pigmentation, Macular degeneration, Blindn... |
OMIM:605549 |
Coats Disease |
|
Exudative retinal detachment, Leukocoria, Retinal telangiectasia |
OMIM:300216 |
Choroideremia |
|
Myopia, Abnormality of retinal pigmentation, Progressive visual loss, Visual impairment, Abnormal... |
ORPHA:180 |
Retinitis Pigmentosa 45 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular degeneration, Peripheral vis... |
OMIM:613767 |
Methemoglobinemia, Beta Type |
|
Cyanosis |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Cyanosis |
OMIM:617973 |
Spinocerebellar Ataxia 7 |
|
Progressive visual loss, Optic atrophy, Macular degeneration, Pigmentary retinopathy |
OMIM:164500 |
Nephronophthisis 14 |
|
Retinal degeneration |
OMIM:614844 |
Surfactant Metabolism Dysfunction, Pulmonary, 4 |
|
Reduced forced expiratory volume in one second, Tachypnea, Ground-glass opacification, Decreased ... |
OMIM:300770 |
Macrophthalmia, Colobomatous, With Microcornea |
|
Myopia, Macular atrophy, Reduced visual acuity |
OMIM:602499 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Hypertrophic cardiomyopathy, Respiratory distress, Death in infancy |
OMIM:604377 |
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome |
|
Patchy atrophy of the retinal pigment epithelium, Progressive visual loss, Rod-cone dystrophy, Co... |
ORPHA:436245 |
Laryngomalacia |
|
Respiratory distress, Congenital laryngeal stridor |
OMIM:150280 |
Idiopathic Bronchiectasis |
|
Wheezing, Productive cough, Crackles, Abnormal respiratory system physiology, Bronchiectasis, Red... |
ORPHA:60033 |
Chronic Beryllium Disease |
|
Reticulonodular pattern on pulmonary HRCT, Lymphocytic interstitial pneumonia, Abnormal respirato... |
ORPHA:133 |
Neovascular Glaucoma |
|
Abnormality of the optic nerve, Corneal stromal edema, Retinal vascular proliferation, Iris neova... |
ORPHA:94058 |
Platelet-Activating Factor Acetylhydrolase Deficiency |
|
Increased level of platelet-activating factor |
OMIM:614278 |
Bardet-Biedl Syndrome 2 |
|
Retinal degeneration, Rod-cone dystrophy |
OMIM:615981 |
Retinitis Pigmentosa 84 |
|
Macular coloboma, Macular atrophy, Rod-cone dystrophy |
OMIM:618220 |
Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Apneic episodes precipita... |
OMIM:254210 |
Spastic Paraplegia 11, Autosomal Recessive |
|
Degeneration of the lateral corticospinal tracts, Retinal degeneration, Macular degeneration, Vis... |
OMIM:604360 |
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
|
Myopia, Hypermetropia, Elevated circulating creatine kinase concentration, Retinal dystrophy, Amb... |
ORPHA:370022 |
Retinitis Pigmentosa 56 |
|
Pigmentary retinopathy, Optic disc pallor, Bone spicule pigmentation of the retina, Visual field ... |
OMIM:613581 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Respiratory distress |
OMIM:615595 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Crazy paving pattern, Hypoxemia, Crackles, Cough, Cyanosis, Decreased DLCO, Restrictive ventilato... |
ORPHA:747 |
Congenital Diaphragmatic Hernia |
|
Hypoxemia, Pulmonary hypoplasia, Respiratory distress |
ORPHA:2140 |
Pulmonary Alveolar Microlithiasis |
|
Right ventricular failure, Pleural thickening, Exertional dyspnea, Restrictive ventilatory defect... |
ORPHA:60025 |
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset |
|
Restrictive ventilatory defect, Respiratory failure, Respiratory insufficiency, Respiratory distress |
OMIM:614399 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Optic atrophy, Abnormality of visual evoked potentials, Temporal optic disc pallor, Progressive v... |
ORPHA:1215 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Respiratory distress |
OMIM:619099 |
Stargardt Macular Degeneration, Absent Or Hypoplastic Corpus Callosum, Mental Retardation, And Dysmorphic Facial Features |
|
Macular degeneration |
OMIM:612948 |
Megalocornea |
|
Decreased corneal thickness, Corneal arcus, Lens subluxation, Iris transillumination defect, Irid... |
OMIM:309300 |
Idiopathic Neonatal Atrial Flutter |
|
Abnormal QRS complex, Reduced ejection fraction, Tachypnea, Supraventricular tachycardia, Abnorma... |
ORPHA:45452 |
Cone-Rod Dystrophy 10 |
|
Progressive visual loss, Rod-cone dystrophy, Macular degeneration, Peripheral visual field loss, ... |
OMIM:610283 |
Abetalipoproteinemia |
|
Abetalipoproteinemia, Retinal degeneration, Retinopathy |
OMIM:200100 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive |
|
Respiratory distress, Lymphocytic interstitial pneumonia |
OMIM:245590 |
Primary Pulmonary Hypoplasia |
|
Abnormal breath sound, Hypoxemia, Neonatal respiratory distress, Tachypnea, Pneumothorax, Apnea, ... |
ORPHA:2257 |
Choanal Atresia |
|
Chronic sinusitis, Upper airway obstruction, Respiratory distress, Cyanosis, Abnormal nasal mucus... |
ORPHA:137914 |
Myotubular Myopathy With Abnormal Genital Development |
|
Respiratory distress, Neonatal death, Death in infancy, Atelectasis |
OMIM:300219 |
Atrial Septal Defect, Ostium Secundum Type |
|
Right ventricular failure, Syncope, Left-to-right shunt, ST segment depression, Exertional dyspne... |
ORPHA:99103 |
Pneumocystosis |
|
Hypoxemia, Respiratory insufficiency, Interstitial pneumonitis, Exertional dyspnea, Combined cyst... |
ORPHA:723 |
Acquired Methemoglobinemia |
|
Hypoxemia, Syncope, Palpitations, Tachycardia, Respiratory distress, Cyanosis, Dyspnea, Arrhythmia |
ORPHA:464453 |
Vitreoretinal Degeneration, Snowflake Type |
|
Retinal dots, Corneal guttata, Optically empty vitreous, Retinal detachment, Cataract, Snowflake ... |
OMIM:193230 |
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive |
|
Purpura, Pulmonary embolism, Vitreous hemorrhage |
OMIM:612304 |
Laryngeal Abductor Paralysis |
|
Cyanosis, Stridor |
OMIM:150260 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Myopia, Cerebellar atrophy, Retinal degeneration, Abnormality of visual evoked potentials, Reduce... |
ORPHA:168491 |
Cholestasis With Gallstone, Ataxia, And Visual Disturbance |
|
Optic atrophy, Retinal degeneration |
OMIM:214980 |
Factor V Excess With Spontaneous Thrombosis |
|
Pulmonary embolism |
OMIM:134400 |
Waardenburg Syndrome Type 3 |
|
Acrocyanosis, Tracheomalacia, Atelectasis |
ORPHA:896 |
Mitochondrial Complex I Deficiency, Nuclear Type 30 |
|
Respiratory failure, Neonatal death, Congestive heart failure |
OMIM:301021 |
X-Linked Corneal Dermoid |
|
Abnormal pupil morphology, Corneal opacity |
ORPHA:1661 |
Atrial Septal Defect, Coronary Sinus Type |
|
Right ventricular failure, Syncope, Left-to-right shunt, Pneumonia, Systolic heart murmur, Palpit... |
ORPHA:99104 |
Sjögren-Larsson Syndrome |
|
Myopia, Abnormality of retinal pigmentation, Macular degeneration, Retinopathy, Photophobia |
ORPHA:816 |
Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Ataxia |
OMIM:617113 |
Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Apneic episodes precipita... |
OMIM:605809 |
Mental Retardation, Autosomal Dominant 52 |
|
Hyperactivity |
OMIM:617796 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
High hypermetropia, Macular atrophy, Optic disc pallor, Abnormal auditory evoked potentials, Reti... |
OMIM:619260 |
Intellectual Developmental Disorder, X-Linked 101 |
|
Hyperactivity, Optic atrophy |
OMIM:300928 |
Anterior Segment Dysgenesis 3 |
|
Posterior embryotoxon, Axenfeld anomaly, Hypoplastic iris stroma, Rieger anomaly, Peters anomaly,... |
OMIM:601631 |
Stickler Syndrome Type 2 |
|
Abnormal vitreous humor morphology, Retinal detachment, Corneal opacity, Cataract, Retinopathy |
ORPHA:90654 |
Primary Ciliary Dyskinesia |
|
Wheezing, Productive cough, Neonatal respiratory distress, Pulmonary situs ambiguus, Bronchiectas... |
ORPHA:244 |
Atrial Septal Defect, Ostium Primum Type |
|
Syncope, Abnormal respiratory system physiology, Third heart sound, Exertional dyspnea, Abnormall... |
ORPHA:99106 |
Refsum Disease, Classic |
|
Nyctalopia, Retinal degeneration, Elevated levels of phytanic acid, Rod-cone dystrophy |
OMIM:266500 |
X-Linked Recessive Ocular Albinism |
|
Hypoplasia of the fovea, Ocular albinism, Abnormal pupil morphology, Iris hypopigmentation, Astig... |
ORPHA:54 |
Alg6-Cdg |
|
Decreased LDL cholesterol concentration, Retinal degeneration, Rod-cone dystrophy, Hypoalbuminemia |
ORPHA:79320 |
Oculocutaneous Albinism Type 1 |
|
Abnormality of visual evoked potentials, Hypoplasia of the fovea, Photophobia, Amblyopia, Reduced... |
ORPHA:352731 |
Diffuse Alveolar Hemorrhage |
|
Hypoxemia, Irregular septal thickening on pulmonary HRCT, Ground-glass opacification, Cough, Pulm... |
ORPHA:90060 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Cerebellar atrophy, Optic disc pallor, Retinal degeneration, Large central visual field defect, V... |
ORPHA:79264 |
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly |
|
Hyperactivity, Inability to walk |
OMIM:616657 |
Aceruloplasminemia |
|
Increased circulating ferritin concentration, Aceruloplasminemia, Retinal degeneration, Decreased... |
OMIM:604290 |
Alpha-2-Plasmin Inhibitor Deficiency |
|
Hemothorax, Joint hemorrhage, Persistent bleeding after trauma, Bruising susceptibility |
OMIM:262850 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Myopia, Optic disc pallor, Photoreceptor layer loss on macular OCT, Decreased serum iron, Retinal... |
OMIM:616959 |
Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory failure, Respiratory distress, Dyspnea |
ORPHA:1832 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Visual loss, Optic atrophy, Cone/cone-rod dystrophy, Retinal degeneration |
OMIM:249270 |
Ataxia With Vitamin E Deficiency |
|
Visual impairment, Abnormality of retinal pigmentation, Abnormality of visual evoked potentials, ... |
ORPHA:96 |
Spastic Paraplegia 15, Autosomal Recessive |
|
Reduced visual acuity, Retinal degeneration, Visual impairment, Macular degeneration |
OMIM:270700 |
Complete Atrioventricular Septal Defect |
|
Wheezing, Right ventricular failure, Left-to-right shunt, Abnormal P wave, Crackles, Systolic hea... |
ORPHA:1329 |
Larsen-Like Syndrome, Lethal Type |
|
Pulmonary insufficiency, Pulmonary hypoplasia, Respiratory insufficiency, Neonatal death, Tracheo... |
OMIM:245650 |
Severe X-Linked Mitochondrial Encephalomyopathy |
|
Respiratory distress, Respiratory insufficiency |
ORPHA:238329 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Bilateral lung agenesis, Neonatal death, Respiratory insufficiency |
OMIM:601612 |
Progressive Familial Heart Block, Type Ia |
|
Syncope, Complete heart block with broad QRS complexes, Left anterior fascicular block, Right bun... |
OMIM:113900 |
Retinal Venous Beading |
|
Retinal infarction, Retinal neovascularization, Vitreous hemorrhage, Saccular conjunctival dilata... |
OMIM:180080 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Dilated cardiomyopathy, Respiratory distress, Respiratory insufficiency due to muscle weakness |
OMIM:300580 |
Congenital Laryngeal Web |
|
Respiratory distress, Stridor |
ORPHA:2374 |
Intestinal Botulism |
|
Mydriasis |
ORPHA:178481 |
Toxin-Mediated Infectious Botulism |
|
Mydriasis |
ORPHA:230800 |
Hypotrichosis With Juvenile Macular Degeneration |
|
Abnormality of macular pigmentation, Blindness, Macular degeneration |
ORPHA:1573 |
Lymphoid Interstitial Pneumonia |
|
Wheezing, Hypoxemia, Subpleural interstitial thickening, Crackles, Bronchiectasis, Centrilobular ... |
ORPHA:79128 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
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Amblyopia, Optic disc pallor, Abnormality of visual evoked potentials |
OMIM:617523 |
Polycystic Kidney, Cataract, And Congenital Blindness |
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Microcoria, Retinal dystrophy, Hypoplasia of the retina, Cataract |
OMIM:263100 |
Hsd10 Disease, Infantile Type |
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Frontotemporal cerebral atrophy, Optic atrophy, Retinal degeneration, Neurodegeneration, Rod-cone... |
ORPHA:391428 |
Mental Retardation, Autosomal Recessive 37 |
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Hyperactivity |
OMIM:615493 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4 |
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Mydriasis |
OMIM:619365 |
Woolly Hair |
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Abnormal pupil morphology, Cataract, Abnormal retinal morphology |
ORPHA:170 |
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis |
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Exudative retinal detachment, Retinal detachment, Retinal arterial macroaneurysms |
OMIM:614224 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
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Exertional dyspnea, Cyanosis |
OMIM:250800 |
Congenital Disorder Of Glycosylation, Type Ix |
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Respiratory distress, Death in childhood |
OMIM:615597 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
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Cyanosis, Central apnea |
ORPHA:71277 |
Mitochondrial Phosphate Carrier Deficiency |
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Hypertrophic cardiomyopathy, Cyanosis, Respiratory insufficiency |
OMIM:610773 |
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type) |
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Retinal degeneration |
OMIM:616896 |
Congenital Alpha2-Antiplasmin Deficiency |
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Intracranial hemorrhage, Gingival bleeding, Joint hemorrhage, Persistent bleeding after trauma, A... |
ORPHA:79 |
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive |
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Cerebral hemorrhage, Purpura, Pulmonary embolism |
OMIM:614514 |
Adult Acute Respiratory Distress Syndrome |
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Shock, Hypoxemia, Pneumonia, Abnormal blood gas level, Pulmonary edema, Vasculitis, Pulmonary inf... |
ORPHA:70578 |
Scheie Syndrome |
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Retinal degeneration |
OMIM:607016 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
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Hyperactivity |
ORPHA:356996 |
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
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Decreased motor nerve conduction velocity, Optic atrophy, Optic disc pallor, Abnormality of visua... |
OMIM:601152 |
Congenital Tracheomalacia |
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Wheezing, Neonatal respiratory distress, Apnea, Decreased peak expiratory flow, Emphysema, Respir... |
ORPHA:95430 |
Pulmonary Hypertension, Primary, 3 |
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Dyspnea, Elevated pulmonary artery pressure, Pulmonary arterial hypertension, Increased pulmonary... |
OMIM:615343 |
Idiopathic Pulmonary Hemosiderosis |
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Restrictive ventilatory defect, Crackles, Ground-glass opacification, Cough, Pulmonary infiltrate... |
ORPHA:99931 |
Bardet-Biedl Syndrome 9 |
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Bone spicule pigmentation of the retina, Retinal degeneration, Rod-cone dystrophy, Attenuation of... |
OMIM:615986 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
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Buphthalmos, Retinal nonattachment, Shallow anterior chamber, Retinal fold, Persistent pupillary ... |
OMIM:221900 |
Iatrogenic Botulism |
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Mydriasis |
ORPHA:254509 |
Neurodegeneration With Brain Iron Accumulation 2A |
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Optic atrophy, Cerebellar atrophy, Abnormality of visual evoked potentials, Neurodegeneration, Ne... |
OMIM:256600 |
Bardet-Biedl Syndrome 17 |
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Macular atrophy, Retinal degeneration, Bone spicule pigmentation of the retina, Rod-cone dystroph... |
OMIM:615994 |
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract |
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Reduced visual acuity, Retinal atrophy |
OMIM:616722 |
Mohr-Tranebjaerg Syndrome |
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Optic atrophy, Abnormality of visual evoked potentials, Abnormality of somatosensory evoked poten... |
ORPHA:52368 |
Norrie Disease |
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Optic atrophy, Retinal fold, Shallow anterior chamber, Retinal dysplasia, Hypoplasia of the iris,... |
OMIM:310600 |
Wound Botulism |
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Mydriasis |
ORPHA:178475 |
Pulmonary Hypoplasia, Primary |
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Neonatal death, Pulmonary hypoplasia |
OMIM:265430 |
Retinitis Pigmentosa 82 With Or Without Situs Inversus |
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Macular atrophy, Optic disc pallor, Reduced visual acuity, Rod-cone dystrophy |
OMIM:615434 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
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Gait disturbance, Dysmetria, Tremor, Hyperactivity, Inability to walk |
OMIM:618090 |
Inhalational Botulism |
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Mydriasis |
ORPHA:254504 |
Birdshot Chorioretinopathy |
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Retinal pigment epithelial atrophy, Abnormal chorioretinal morphology, Visual impairment, Vitritis |
OMIM:605808 |
Isolated Right Ventricular Hypoplasia |
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Right ventricular failure, Hypoxemia, Systolic heart murmur, Bidirectional shunt, Tricuspid regur... |
ORPHA:439 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
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Retinal degeneration, Visual field defect, Rod-cone dystrophy, Nyctalopia, Abnormality of pattern... |
ORPHA:166035 |
Nipah Virus Disease |
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Recurrent pharyngitis, Respiratory distress, Cough, Hypotension |
ORPHA:99825 |
Phacoanaphylactic Uveitis |
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Conjunctival hyperemia, Hypopyon, Cystoid macular edema, Posterior synechiae of the anterior cham... |
ORPHA:209959 |
Paget Disease Of Bone 5, Juvenile-Onset |
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Retinal degeneration, Hydroxyprolinemia, Hyperuricemia, Retinopathy, Hyperphosphatemia, Macular s... |
OMIM:239000 |
Ciliary Dyskinesia, Primary, 1 |
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Ciliary dyskinesia, Pneumonia, Bronchiectasis, Chronic rhinitis, Recurrent bronchitis, Chronic si... |
OMIM:244400 |
Benign Familial Infantile Epilepsy |
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Cyanosis, Apnea |
ORPHA:306 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
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Elevated circulating creatine kinase concentration, Reduced visual acuity, Retinal degeneration, ... |
OMIM:615249 |
Krabbe Disease |
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Optic atrophy, Abnormal flash visual evoked potentials, Neurodegeneration, Decreased nerve conduc... |
OMIM:245200 |
Cardiomyopathy, Dilated, 2C |
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Dilated cardiomyopathy, Pulmonary arterial hypertension, Reduced ejection fraction |
OMIM:618189 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
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Persistent pupillary membrane, Corneal opacity, Cataract, Aplasia/Hypoplasia of the iris |
ORPHA:1067 |
Hypoadrenocorticism, Familial |
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Cyanosis, Apnea |
OMIM:240200 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
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Optic atrophy, Abnormality of visual evoked potentials, Myopia |
ORPHA:2971 |
Botulism |
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Mydriasis |
ORPHA:1267 |
Histiocytosis, Familial Lipochrome |
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Pulmonary infiltrates |
OMIM:235900 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
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Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Respiratory distress... |
ORPHA:254875 |
Avian Influenza |
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Productive cough, Hypoxemia, Pneumonia, Tachypnea, Pneumothorax, Ground-glass opacification, Coug... |
ORPHA:454836 |
Cone-Rod Dystrophy 6 |
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Macular atrophy, Hemeralopia, Reduced visual acuity, Progressive night blindness, Peripheral visu... |
OMIM:601777 |
Combined Oxidative Phosphorylation Defect Type 23 |
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Hypertrophic cardiomyopathy, Paroxysmal dyspnea, Stridor, Cyanosis, Congestive heart failure, Sev... |
ORPHA:444013 |
Familial Progressive Cardiac Conduction Defect |
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Syncope, Heart block, Bundle branch block, Congestive heart failure, Dyspnea, Arrhythmia |
ORPHA:871 |
Pulmonary Hypertension, Primary, 1 |
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Pulmonary artery vasoconstriction, Right ventricular failure, Telangiectasia, Hypertension, Pulmo... |
OMIM:178600 |
Postsynaptic Congenital Myasthenic Syndromes |
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Restrictive ventilatory defect, Exertional dyspnea, Cyanosis, Orthopnea, Reduced vital capacity, ... |
ORPHA:98913 |
Ciliary Dyskinesia, Primary, 2 |
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Sinusitis, Ciliary dyskinesia, Bronchiectasis, Respiratory distress, Immotile cilia, Recurrent re... |
OMIM:606763 |
Iridocorneal Endothelial Syndrome |
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Polycoria, Corneal stromal edema, Hypoplastic iris stroma, Abnormal migration of corneal endothel... |
ORPHA:64734 |
Intellectual Developmental Disorder, X-Linked 104 |
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Hyperactivity, Optic atrophy, Ataxia, Tremor |
OMIM:300983 |
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1 |
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Visual loss, Nonarteritic anterior ischemic optic neuropathy, Abnormality of visual evoked potent... |
OMIM:125310 |
Aspergillosis |
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Sinusitis, Chronic pulmonary obstruction, Intracranial hemorrhage, Pneumonia, Bronchiectasis, Gro... |
ORPHA:1163 |
Foodborne Botulism |
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Mydriasis |
ORPHA:228371 |
Pulmonary Edema Of Mountaineers, Susceptibility To |
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Elevated pulmonary artery pressure, Pulmonary edema |
OMIM:178400 |
Absence Of The Pulmonary Artery |
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Hypocapnia, Reduced ejection fraction, Systolic heart murmur, Bronchiectasis, Atrial fibrillation... |
ORPHA:980 |
Niemann-Pick Disease, Type B |
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Dyspnea, Recurrent respiratory infections, Diffuse reticular or finely nodular infiltrations |
OMIM:607616 |
Allergic Bronchopulmonary Aspergillosis |
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Respiratory insufficiency, Bronchiectasis, Pulmonary arterial hypertension, Cough, Asthma, Emphysema |
ORPHA:1164 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
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Hyperactivity, Optic atrophy, Broad-based gait, Tremor |
OMIM:619470 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
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Hyperactivity |
ORPHA:436151 |
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1 |
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Obstructive sleep apnea, Crackles, Cough, Reticular pattern on pulmonary HRCT, Decreased DLCO, Pu... |
OMIM:614742 |
Serotonin Syndrome |
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Mydriasis, Tremor |
ORPHA:43116 |
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome |
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Choroidal neovascularization, Cerebral cortical atrophy, Macular degeneration |
ORPHA:404451 |
Anaplastic Thyroid Carcinoma |
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Neoplasm of the lung, Stridor, Cough, Upper airway obstruction, Respiratory distress, Dyspnea |
ORPHA:142 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
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Neonatal respiratory distress, Neonatal death, Pulmonary arterial hypertension, Cardiomyopathy, P... |
OMIM:619003 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
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Retinal detachment, Peripheral vitreoretinal degeneration, Cataract, Lens subluxation |
OMIM:614292 |
Infant Botulism |
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Mydriasis, Keratoconjunctivitis sicca |
ORPHA:178478 |
Cyanosis, Transient Neonatal |
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Cyanosis, Jaundice |
OMIM:613977 |
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
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Retinal degeneration |
OMIM:613819 |
Developmental And Epileptic Encephalopathy 3 |
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Abnormality of visual evoked potentials, Cerebral atrophy |
OMIM:609304 |
Malaria |
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Respiratory distress |
ORPHA:673 |
Long Qt Syndrome 13 |
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Syncope, Hypertension, Prolonged QT interval, Atrial fibrillation, Atrioventricular block, Tachyc... |
OMIM:613485 |
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation |
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Optic atrophy, Myopia, Cerebellar atrophy, Abnormality of visual evoked potentials, Hypermetropia... |
OMIM:616875 |
Joubert Syndrome 6 |
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Blindness, Chorioretinal coloboma, Retinal degeneration |
OMIM:610688 |
Microspherophakia With Hernia |
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Retinal detachment, Microspherophakia, Superior lens subluxation |
OMIM:157150 |
Intellectual Developmental Disorder, X-Linked 72 |
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Hyperactivity |
OMIM:300271 |
Non-Specific Early-Onset Epileptic Encephalopathy |
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Optic atrophy, Retinal degeneration, Abnormality of vision, Brain atrophy, Cerebral atrophy |
ORPHA:442835 |
Microcoria, Congenital |
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Microcoria, Miosis, Hypoplasia of the iris dilator muscle |
OMIM:156600 |
Posterior Polymorphous Corneal Dystrophy |
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Corneal stromal edema, Reduced number of corneal endothelial cells, Increased corneal curvature, ... |
ORPHA:98973 |
Familial Dilated Cardiomyopathy |
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Atrial fibrillation, Mitral regurgitation, Ventricular arrhythmia, Palpitations, Reduced ejection... |
ORPHA:217607 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
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Respiratory distress, Cardiomyopathy |
ORPHA:26792 |
Nephronophthisis-Like Nephropathy 2 |
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Recurrent respiratory infections, Pulmonary infiltrates, Cough, Bronchiectasis |
OMIM:619468 |
Dihydropyrimidine Dehydrogenase Deficiency |
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Hyperactivity, Optic atrophy, Lethargy |
OMIM:274270 |
Retinal Detachment |
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Retinal detachment |
OMIM:180050 |
Leukodystrophy, Hypomyelinating, 17 |
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Respiratory distress |
OMIM:618006 |
Lymphangioleiomyomatosis |
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Pneumothorax, Cough, Pulmonary lymphangiomyomatosis, Gastrointestinal hemorrhage, Recurrent respi... |
ORPHA:538 |
Atrial Septal Defect, Sinus Venosus Type |
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Left-to-right shunt, Cardiac conduction abnormality, Exertional dyspnea, Anomalous pulmonary veno... |
ORPHA:99105 |
X-Linked Centronuclear Myopathy |
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