Spermatogenic Failure 5 |
|
Functional abnormality of male internal genitalia, Male infertility |
OMIM:243060 |
Spermatogenic Failure, Y-Linked, 1 |
|
Male infertility, Reduced sperm motility |
OMIM:400042 |
Spermatogenic Failure 55 |
|
Male infertility, Reduced sperm motility |
OMIM:619380 |
Bronchopulmonary Dysplasia |
|
Wheezing, Diaphragmatic paralysis, Central apnea, Hyperoxemia, Abnormal respiratory system physio... |
ORPHA:70589 |
Spermatogenic Failure 62 |
|
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619672 |
Spermatogenic Failure 59 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619646 |
Spermatogenic Failure 36 |
|
Abnormal sperm morphology, Male infertility |
OMIM:618420 |
Spermatogenic Failure 43 |
|
Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm flagella, Male in... |
OMIM:618751 |
Spermatogenic Failure 49 |
|
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
|
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... |
OMIM:619094 |
Spermatogenic Failure 31 |
|
Male infertility, Acephalic spermatozoa |
OMIM:618112 |
Spermatogenic Failure 53 |
|
Tapered sperm head, Male infertility |
OMIM:619258 |
Spermatogenic Failure 46 |
|
Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male infertility, S... |
OMIM:619095 |
Asbestos Intoxication |
|
Wheezing, Cor pulmonale, Lung adenocarcinoma, Pleural thickening, Exertional dyspnea, Restrictive... |
ORPHA:2302 |
Spermatogenic Failure 3 |
|
Infertility |
OMIM:606766 |
Spermatogenic Failure 17 |
|
Infertility |
OMIM:617214 |
Oocyte Maturation Defect 1 |
|
Infertility |
OMIM:615774 |
Oocyte Maturation Defect 3 |
|
Infertility |
OMIM:617712 |
Spermatogenic Failure 27 |
|
Infertility |
OMIM:617965 |
Oocyte Maturation Defect 4 |
|
Infertility |
OMIM:617743 |
Oocyte Maturation Defect 5 |
|
Infertility |
OMIM:617996 |
Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
Spermatogenic Failure 1 |
|
Oligospermia, Male infertility, Cryptozoospermia |
OMIM:258150 |
Spermatogenic Failure 48 |
|
Oligospermia, Male infertility, Spermatogenesis maturation arrest, Azoospermia |
OMIM:619108 |
Spermatogenic Failure 44 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:619044 |
Spermatogenic Failure 7 |
|
Oligospermia, Male infertility, Immotile sperm, Reduced sperm motility |
OMIM:612997 |
Deafness-Infertility Syndrome |
|
Abnormal spermatogenesis, Male infertility, Reduced sperm motility |
OMIM:611102 |
Spermatogenic Failure 11 |
|
Oligospermia, Male infertility, Abnormal sperm morphology, Reduced sperm motility |
OMIM:615081 |
Spermatogenic Failure 47 |
|
Oligospermia, Immotile sperm, Male infertility, Short sperm flagella, Absent sperm flagella |
OMIM:619102 |
Spermatogenic Failure 58 |
|
Oligospermia, Immotile sperm, Irregularly shaped sperm tail, Reduced progressive sperm motility, ... |
OMIM:619585 |
Spermatogenic Failure 40 |
|
Oligospermia, Immotile sperm, Coiled sperm flagella, Male infertility, Short sperm flagella, Abse... |
OMIM:618664 |
Spermatogenic Failure, X-Linked, 3 |
|
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... |
OMIM:301059 |
Spermatogenic Failure 41 |
|
Oligospermia, Immotile sperm, Tapered sperm head, Male infertility, Short sperm flagella |
OMIM:618670 |
Spermatogenic Failure 56 |
|
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... |
OMIM:619515 |
Male Infertility Due To Acephalic Spermatozoa |
|
Oligospermia, Abnormal sperm mid-piece morphology, Reduced sperm motility, Acephalic spermatozoa,... |
ORPHA:529970 |
Spermatogenic Failure 42 |
|
Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility, Short sperm ... |
OMIM:618745 |
Spermatogenic Failure 57 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619528 |
Spermatogenic Failure 39 |
|
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... |
OMIM:618643 |
Spermatogenic Failure 54 |
|
Oligospermia, Cryptozoospermia, Reduced sperm motility, Abnormal sperm axoneme morphology, Coiled... |
OMIM:619379 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Anophthalmia, Microcoria, Microphthalmia, Iris coloboma |
OMIM:616428 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Dysphagia, Limb fasciculations, Cough, Tremor, Distal sensory impairment, Respiratory failure, Dy... |
ORPHA:90117 |
Spermatogenic Failure 50 |
|
Spermatogenesis maturation arrest, Male infertility, Azoospermia |
OMIM:619145 |
Recurrent Respiratory Papillomatosis |
|
Wheezing, Dysphagia, Stridor, Respiratory insufficiency, Tachypnea, Choking episodes, Upper airwa... |
ORPHA:60032 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Wheezing, Neonatal respiratory distress, Crackles, Elevated bronchoalveolar lavage fluid lymphocy... |
OMIM:610978 |
Bronchogenic Cyst |
|
Dysphagia, Paresthesia, Pneumonia, Bronchogenic cyst, Cough, Abnormality of the peritoneum, Abnor... |
ORPHA:2357 |
Acute Interstitial Pneumonia |
|
Reticulonodular pattern on pulmonary HRCT, Hypoxemia, Crackles, Pericardial effusion, Bronchiecta... |
ORPHA:79126 |
Spinal Muscular Atrophy, Type I |
|
Ventricular septal defect, Respiratory insufficiency, Atrial septal defect, Tongue fasciculations... |
OMIM:253300 |
Cataract 20, Multiple Types |
|
Cataract, Membranous cataract |
OMIM:116100 |
Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability |
|
Spondylolysis, Os odontoideum, Spondylolisthesis at L5-S1, Atlantoaxial instability, Hemiparesis,... |
OMIM:600561 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Desquamative interstitial pneumonitis, Neonatal respiratory distress, Death in infancy, Nonspecif... |
OMIM:610921 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Cor pulmonale, Desquamative interstitial pneumonitis, Tachypnea, Cough, Respiratory distress, Rec... |
OMIM:263000 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:85275 |
Ciliary Dyskinesia, Primary, 20 |
|
Dextrocardia, Ciliary dyskinesia, Bronchiectasis, Respiratory insufficiency due to defective cili... |
OMIM:615067 |
Partial Chromosome Y Deletion |
|
Oligospermia, Abnormal spermatogenesis, Male infertility, Non-obstructive azoospermia |
ORPHA:1646 |
Ciliary Dyskinesia, Primary, 21 |
|
Neonatal respiratory distress, Ciliary dyskinesia, Bronchiectasis, Chronic sinusitis, Recurrent p... |
OMIM:615294 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Anophthalmia, Bilateral microphthalmos, Microphthalmia, Iris coloboma |
OMIM:611638 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Bronchiectasis, Respiratory distress, Abnormal mucociliary clearance, Recurrent respiratory infec... |
OMIM:619466 |
Pulmonary Blastoma |
|
Cough, Pulmonary infiltrates, Recurrent pneumonia, Dyspnea, Pleuropulmonary blastoma |
ORPHA:64741 |
Respiratory Distress Syndrome In Premature Infants |
|
Neonatal respiratory distress, Tachypnea, Respiratory distress, Pulmonary edema, Dyspnea, Atelect... |
OMIM:267450 |
Spermatogenic Failure 35 |
|
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella |
OMIM:618341 |
Spermatogenic Failure 33 |
|
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella |
OMIM:618152 |
Spermatogenic Failure 34 |
|
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella |
OMIM:618153 |
Spermatogenic Failure 18 |
|
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella |
OMIM:617576 |
Spermatogenic Failure 20 |
|
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella |
OMIM:617593 |
Spermatogenic Failure 19 |
|
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella |
OMIM:617592 |
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset |
|
Diaphragmatic paralysis, Dysphagia, Respiratory insufficiency, Respiratory failure, Respiratory d... |
OMIM:614399 |
Meconium Aspiration Syndrome |
|
Wheezing, Hypoxemia, Intrauterine growth retardation, Atelectasis, Transient pulmonary infiltrate... |
ORPHA:70588 |
Mucus Inspissation Of Respiratory Tract |
|
Chronic pulmonary obstruction, Bronchiectasis, Chronic sinusitis, Recurrent respiratory infection... |
OMIM:253240 |
Infant Acute Respiratory Distress Syndrome |
|
Hypoxemia, Pneumonia, Tachypnea, Respiratory tract infection, Pulmonary edema, Cyanosis, Respirat... |
ORPHA:70587 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Desquamative interstitial pneumonitis, Neonatal respiratory distress, Death in infancy, Tachypnea... |
OMIM:265120 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4 |
|
Pulmonary hypoplasia, Apnea |
OMIM:615228 |
Ciliary Dyskinesia, Primary, 29 |
|
Ciliary dyskinesia, Bronchiectasis, Recurrent respiratory infections, Decreased nasal nitric oxid... |
OMIM:615872 |
Pulmonary Nodular Lymphoid Hyperplasia |
|
Nodular pattern on pulmonary HRCT, Dyspnea, Ground-glass opacification, Cough |
ORPHA:60026 |
Atelosteogenesis, Type Ii |
|
Death in infancy, Increased intervertebral space, Respiratory insufficiency, Coronal cleft verteb... |
OMIM:256050 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Wheezing, Hypoxemia, Crackles, Abnormal pulmonary thoracic imaging finding, Hypersensitivity pneu... |
ORPHA:2902 |
Cholesterol Pneumonia |
|
Death in infancy, Pneumonia, Tachypnea, Cough, Cyanosis |
OMIM:215030 |
Microphthalmia, Isolated 1 |
|
Anophthalmia, Microphthalmia |
OMIM:251600 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Neonatal respiratory distress, Intrauterine growth retardation, Neonatal death, Pulmonary arteria... |
OMIM:619003 |
Rowley-Rosenberg Syndrome |
|
Cor pulmonale, Right ventricular hypertrophy, Pulmonary arterial hypertension, Reduced subcutaneo... |
OMIM:268500 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Clumsiness, Dysphagia, Recurrent aspiration pneumonia, Limb myoclonus, Frequent falls, Respirator... |
ORPHA:2590 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:265430 |
Pleural Mesothelioma |
|
Hepatomegaly, Dysphagia, Abnormal respiratory system physiology, Cough, Respiratory distress, Abn... |
ORPHA:50251 |
Ciliary Dyskinesia, Primary, 33 |
|
Ciliary dyskinesia, Recurrent bronchitis, Bronchiectasis, Chronic rhinitis, Cough, Recurrent lowe... |
OMIM:616726 |
Spermatogenic Failure 10 |
|
Abnormal sperm morphology, Infertility |
OMIM:614822 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Desquamative interstitial pneumonitis, Nonspecific interstitial pneumonia, Spontaneous pneumothor... |
OMIM:610913 |
Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia, Cataract |
OMIM:156850 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Paralysis, Central apnea, Choreoathetosis, Chorea, Myoclonus, Extrapyramidal dyskinesia, Hemipare... |
ORPHA:71277 |
Spermatogenic Failure 6 |
|
Male infertility, Decreased acrosin in sperm head, Globozoospermia |
OMIM:102530 |
Butyrylcholinesterase Deficiency |
|
Respiratory failure, Paralysis, Respiratory failure requiring assisted ventilation, Abnormality o... |
ORPHA:132 |
Gaucher Disease Type 2 |
|
Hepatomegaly, Dysphagia, Abnormal pattern of respiration, Cough, Splenomegaly, Respiratory distre... |
ORPHA:77260 |
Hereditary Hyperferritinemia-Cataract Syndrome |
|
Cataract |
ORPHA:163 |
Cataract 35 |
|
Cataract |
OMIM:609376 |
Cataract 36 |
|
Cataract |
OMIM:613887 |
Cataract 29 |
|
Cataract |
OMIM:115800 |
Cataract 18 |
|
Cataract |
OMIM:610019 |
Microphthalmia, Isolated 3 |
|
Sclerocornea, Anophthalmia, Microphthalmia |
OMIM:611038 |
Familial Nasal Acilia |
|
Abnormal respiratory motile cilium morphology, Bronchiectasis, Chronic rhinitis, Chronic sinusiti... |
ORPHA:922 |
Hypertrophic Neuropathy And Cataract |
|
Cataract |
OMIM:239900 |
Spermatogenic Failure, X-Linked, 2 |
|
Testicular atrophy, Male infertility, Azoospermia |
OMIM:309120 |
Spermatogenic Failure 26 |
|
Infertility, Acephalic spermatozoa |
OMIM:617961 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Tremor, Respiratory distress, Kyphoscoliosis, Ataxia |
OMIM:619099 |
Primary Ciliary Dyskinesia |
|
Wheezing, Pulmonary situs ambiguus, Neonatal respiratory distress, Recurrent sinopulmonary infect... |
ORPHA:244 |
Primary Pulmonary Hypoplasia |
|
Abnormal breath sound, Hypoxemia, Dextrocardia, Neonatal respiratory distress, Intrauterine growt... |
ORPHA:2257 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Hypertrophic cardiomyopathy, Pulmonary hypoplasia, Death in infancy |
OMIM:614096 |
Tracheobronchopathia Osteochondroplastica |
|
Wheezing, Productive cough, Stridor, Respiratory insufficiency, Pneumonia, Upper airway obstructi... |
ORPHA:3348 |
Krabbe Disease, Atypical, Due To Saposin A Deficiency |
|
Central apnea, Death in infancy, Respiratory insufficiency, Hypertonia, Respiratory failure |
OMIM:611722 |
Spermatogenic Failure 21 |
|
Infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
Spermatogenic Failure 16 |
|
Infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
Larsen-Like Syndrome, Lethal Type |
|
Tracheomalacia, Pulmonary hypoplasia, Respiratory insufficiency, Neonatal death |
OMIM:245650 |
Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Dyspnea, Aspiration pneumonia, Upper airway obstruction |
ORPHA:141152 |
Cataract And Congenital Ichthyosis |
|
Cataract |
OMIM:212400 |
Spermatogenic Failure 32 |
|
Infertility, Azoospermia |
OMIM:618115 |
Spermatogenic Failure 23 |
|
Infertility, Azoospermia |
OMIM:617707 |
Spermatogenic Failure 22 |
|
Infertility, Azoospermia |
OMIM:617706 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness |
|
Chronic sinusitis, Atelectasis, Recurrent bronchitis |
OMIM:300455 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Dysphagia, Frequent falls, Bronchiolitis, Exertional dyspnea, Pulmonary fibrosis, Atelectasis |
ORPHA:254361 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Distal sensory impairment, Respiratory insufficiency due to muscle weakness, Scoliosis, Kyphosis |
OMIM:617087 |
Hereditary Neuropathy With Liability To Pressure Palsies |
|
Vocal cord paralysis, Scoliosis, Respiratory insufficiency, Paresthesia |
ORPHA:640 |
Combined Oxidative Phosphorylation Deficiency 51 |
|
Neonatal respiratory distress, Intrauterine growth retardation, Rigidity, Myoclonus, Respiratory ... |
OMIM:619057 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Clumsiness, Dysphagia, Knee clonus, Stridor, Respiratory insufficiency, Vocal cord paralysis, Kyp... |
OMIM:211530 |
Idiopathic Pulmonary Hemosiderosis |
|
Restrictive ventilatory defect, Hepatomegaly, Crackles, Ground-glass opacification, Cardiomegaly,... |
ORPHA:99931 |
Aniridia 3 |
|
Cataract |
OMIM:617142 |
Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Respiratory failure, Ataxia, Dysphagia, Tremor |
OMIM:618637 |
Cryptogenic Organizing Pneumonia |
|
Wheezing, Hypoxemia, Bronchial breath sound, Crackles, Pneumothorax, Ground-glass opacification, ... |
ORPHA:1302 |
Laryngotracheoesophageal Cleft |
|
Neonatal respiratory distress, Stridor, Choking episodes, Cough, Impaired oropharyngeal swallow r... |
ORPHA:2004 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Dilated cardiomyopathy, Hepatomegaly, Hypertrophic cardiomyopathy, Death in infancy, Respiratory ... |
OMIM:614299 |
Pneumocystosis |
|
Hypoxemia, Respiratory insufficiency, Interstitial pneumonitis, Exertional dyspnea, Combined cyst... |
ORPHA:723 |
Cyanosis And Hepatic Disease |
|
Cyanosis, Dyspnea, Hepatitis |
OMIM:219400 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Microphthalmia, Cataract, Iris coloboma |
OMIM:610092 |
Spermatogenic Failure 38 |
|
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... |
OMIM:618433 |
Isochromosomy Yp |
|
Male infertility, Azoospermia |
ORPHA:98797 |
Idiopathic Acute Eosinophilic Pneumonia |
|
Respiratory insufficiency, Abnormal pattern of respiration, Cough, Pulmonary infiltrates, Abnorma... |
ORPHA:724 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Dysphagia, Neonatal respiratory distress, Respiratory failure, Pulmonary hypoplasia, Patent foram... |
OMIM:616867 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Involuntary movements, Dysphagia, Limb myoclonus, Rigidity, Frequent falls, Limb apraxia, Bradyki... |
ORPHA:240103 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Dysphagia, Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Respirato... |
ORPHA:254875 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Left ventricular hypertrophy, Respiratory distress, Pulmonary hypoplasia, Intrauterine growth ret... |
OMIM:616733 |
Acute Lung Injury |
|
Hypoxemia, Pneumonia, Tachypnea, Respiratory distress, Abnormal pulmonary interstitial morphology... |
ORPHA:178320 |
Thymic Aplasia With Fetal Death |
|
Pulmonary hypoplasia, Truncus arteriosus, Stillbirth |
OMIM:274210 |
Corneal Dystrophy, Groenouw Type I |
|
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy |
OMIM:121900 |
Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Bronchiolitis obliterans, Hypoxemia, Pneumonia, Bronchiectasis, Reduced forced expiratory volume ... |
ORPHA:1303 |
Congenital Pulmonary Lymphangiectasia |
|
Hepatomegaly, Chylopericardium, Chronic pulmonary obstruction, Pulmonary arterial hypertension, C... |
ORPHA:2414 |
Cataract 9, Multiple Types |
|
Developmental cataract, Microphthalmia, Progressive cataract, Iris coloboma, Cataract, Microcornea |
OMIM:604219 |
Congenital Tracheomalacia |
|
Wheezing, Neonatal respiratory distress, Apnea, Single ventricle, Decreased peak expiratory flow,... |
ORPHA:95430 |
Renal Hypodysplasia/Aplasia 2 |
|
Pulmonary hypoplasia |
OMIM:615721 |
Encephalopathy Due To Prosaposin Deficiency |
|
Hepatomegaly, Death in infancy, Respiratory insufficiency, Myoclonus, Splenomegaly, Recurrent res... |
ORPHA:139406 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Wheezing, Honeycomb lung, Hypoxemia, Chronic bronchitis, Chronic pulmonary obstruction, Bronchiec... |
ORPHA:79127 |
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Pulmonary hypoplasia, Vertebral segmentation defect, Abnormal lung lobation |
ORPHA:2631 |
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Dysphagia, Abnormal respiratory system physiology, Respiratory insufficiency, Reduced maximal ins... |
ORPHA:266 |
Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies |
|
Respiratory failure, Respiratory insufficiency |
OMIM:208081 |
Staphylococcal Necrotizing Pneumonia |
|
Hypoxemia, Pneumonia, Tachypnea, Pneumothorax, Cough, Pleural empyema, Respiratory distress, Pulm... |
ORPHA:36238 |
Lethal Osteosclerotic Bone Dysplasia |
|
Intrauterine growth retardation, Short neck, Respiratory distress, Respiratory failure, Dyspnea |
ORPHA:1832 |
Lethal Congenital Contracture Syndrome 11 |
|
Pulmonary hypoplasia |
OMIM:617194 |
Nphp3-Related Meckel-Like Syndrome |
|
Pulmonary hypoplasia, Abnormal liver parenchyma morphology, Abnormal biliary tract morphology, Ab... |
ORPHA:3032 |
Pulmonary Alveolar Proteinosis, Acquired |
|
Hypoxemia, Lung abscess, Pneumonia, Cough, Cyanosis, Decreased DLCO, Restrictive ventilatory defe... |
OMIM:610910 |
Mitochondrial Complex I Deficiency, Nuclear Type 30 |
|
Respiratory failure, Neonatal death, Intrauterine growth retardation |
OMIM:301021 |
Thanatophoric Dysplasia |
|
Intrauterine growth retardation, Respiratory insufficiency, Abnormal sacroiliac joint morphology,... |
ORPHA:2655 |
Congenital Diaphragmatic Hernia |
|
Hypoxemia, Pulmonary hypoplasia, Respiratory distress |
ORPHA:2140 |
Ceroid Lipofuscinosis, Neuronal, 10 |
|
Respiratory insufficiency, Rigidity, Neonatal death, Apnea, Ataxia, Spasticity, Respiratory failure |
OMIM:610127 |
Pulmonary Capillary Hemangiomatosis |
|
Hypoxemia, Pericardial effusion, Pulmonary capillary hemangiomatosis, Centrilobular ground-glass ... |
ORPHA:199241 |
Alpha-1-Antitrypsin Deficiency |
|
Wheezing, Chronic pulmonary obstruction, Chronic bronchitis, Hepatocellular carcinoma, Panacinar ... |
OMIM:613490 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Crazy paving pattern, Hypoxemia, Crackles, Tachypnea, Cough, Respiratory distress, Acute infectio... |
ORPHA:264675 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Respiratory insufficiency due to muscle weakness, Neonatal death, Kyphosis, Respiratory failure, ... |
OMIM:611890 |
Pontocerebellar Hypoplasia, Type 4 |
|
Death in infancy, Myoclonus, Hypertonia, Spasticity, Respiratory failure |
OMIM:225753 |
Developmental And Epileptic Encephalopathy 71 |
|
Respiratory failure, Respiratory insufficiency |
OMIM:618328 |
Pontocerebellar Hypoplasia, Type 1C |
|
Respiratory failure, Spastic tetraparesis, Respiratory insufficiency |
OMIM:616081 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Male infertility |
OMIM:261550 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Hypertrophic cardiomyopathy, Dysphagia, Obstructive sleep apnea, Chorea, Abnormal heart morpholog... |
ORPHA:70472 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Neonatal death, Pulmonary hypoplasia, Anisospondyly |
OMIM:224410 |
Laryngeal Abductor Paralysis With Cerebellar Ataxia And Motor Neuropathy |
|
Paralysis, Limb fasciculations, Dysmetria, Progressive cerebellar ataxia, Dyspnea, Gait ataxia |
OMIM:606183 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hepatomegaly, Poor motor coordination, Myoclonus, Reduced subcutaneous adipose tissue, Tremor, At... |
ORPHA:363400 |
Bardet-Biedl Syndrome 16 |
|
Respiratory distress, Recurrent respiratory infections, Bronchiolitis |
OMIM:615993 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Respiratory failure, Respiratory insufficiency due to muscle weakness, Scoliosis, Kyphosis |
OMIM:618291 |
Spastic Paraplegia 18, Autosomal Recessive |
|
Babinski sign, Upper limb spasticity, Lower limb spasticity, Kyphosis, Spastic paraplegia, Scoliosis |
OMIM:611225 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Truncus arteriosus, Hepatic fibrosis, Asplenia, Situs ... |
OMIM:615415 |
Pericardial And Diaphragmatic Defect |
|
Hypoxemia, Bicuspid aortic valve, Neonatal respiratory distress, Abnormal heart morphology, Pulmo... |
ORPHA:2847 |
Severe Acute Respiratory Syndrome |
|
Hypoxemia, Cough, Respiratory distress, Acute infectious pneumonia, Chronic lung disease, Dyspnea... |
ORPHA:140896 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Chronic pulmonary obstruction, Crackles, Pericardial effusion, Bronchiectasis, Pneumothorax, Coug... |
ORPHA:411703 |
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related |
|
Respiratory failure, Apnea, Respiratory insufficiency, Rigidity |
OMIM:613869 |
Brain-Lung-Thyroid Syndrome |
|
Clumsiness, Neonatal respiratory distress, Incoordination, Respiratory failure, Recurrent respira... |
ORPHA:209905 |
Tracheopathia Osteoplastica |
|
Wheezing, Dyspnea, Recurrent pneumonia, Cough |
OMIM:189961 |
Pulmonary Alveolar Microlithiasis |
|
Mitral valve calcification, Pleural thickening, Exertional dyspnea, Restrictive ventilatory defec... |
ORPHA:60025 |
Apnea, Central Sleep |
|
Cyanosis, Sleep apnea, Irregular respiration, Abnormal pattern of respiration |
OMIM:207720 |
Aldh18A1-Related De Barsy Syndrome |
|
Cataract |
ORPHA:35664 |
Achondrogenesis Type 2 |
|
Unossified sacrum, Absent vertebral body mineralization, Cardiorespiratory arrest, Pulmonary hypo... |
ORPHA:93296 |
Developmental And Epileptic Encephalopathy 30 |
|
Respiratory distress, Death in infancy, Stereotypy |
OMIM:616341 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Respiratory insufficiency, Platyspondyly, Kyphosis, Respiratory failure, Thoracolumbar scoliosis |
OMIM:313420 |
Congenital Tricuspid Valve Dysplasia |
|
Hypoxemia, Hepatomegaly, Intrauterine growth retardation, Pericardial effusion, Tachypnea, Right ... |
ORPHA:555874 |
Neuralgic Amyotrophy |
|
Acrocyanosis, Paresthesia, Respiratory insufficiency |
ORPHA:2901 |
Nemaline Myopathy 8 |
|
Respiratory failure, Dysphagia, Death in infancy |
OMIM:615348 |
Interstitial Lung Disease 2 |
|
Elevated bronchoalveolar lavage fluid neutrophil proportion, Pulmonary arterial hypertension, Cou... |
OMIM:178500 |
Heart Defects-Limb Shortening Syndrome |
|
Ventricular septal defect, Death in infancy, Abnormal mitral valve morphology, Abnormal tricuspid... |
ORPHA:1354 |
Dextrocardia With Unusual Facies And Microphthalmia |
|
Anophthalmia, Microphthalmia |
OMIM:221950 |
Hyperekplexia 4 |
|
Respiratory failure, Hypertonia, Myoclonus, Kyphoscoliosis |
OMIM:618011 |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Dilated cardiomyopathy, Frequent falls, Respiratory insufficiency due to muscle weakness, Kyphosi... |
OMIM:300718 |
Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Dysphagia, Intrauterine growth retardation, Opisthotonus, Petechiae, Neonatal death... |
OMIM:608013 |
Perching Syndrome |
|
Respiratory distress, Dysphagia |
OMIM:617055 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Obstructive azoospermia, Male infertility |
OMIM:301060 |
Minicore Myopathy With External Ophthalmoplegia |
|
Recurrent respiratory infections, Pulmonary hypoplasia, Scoliosis, Respiratory insufficiency |
OMIM:255320 |
Chronic Pneumonitis Of Infancy |
|
Hypoxemia, Tachypnea, Ground-glass opacification, Cough, Respiratory distress, Cyanosis, Intercos... |
ORPHA:91359 |
Odontochondrodysplasia 1 |
|
Death in infancy, Coronal cleft vertebrae, Biconvex vertebral bodies, Platyspondyly, Respiratory ... |
OMIM:184260 |
Cataract 11, Multiple Types |
|
Microphthalmia, Cataract |
OMIM:610623 |
Diaphanospondylodysostosis |
|
Absent in utero ossification of vertebral bodies, Intrauterine growth retardation, Pulmonary hypo... |
OMIM:608022 |
Microphthalmia, Syndromic 12 |
|
Hypoplastic left atrium, Ventricular septal defect, Pulmonary hypoplasia |
OMIM:615524 |
3-Methylglutaconic Aciduria, Type Viii |
|
Death in infancy, Apnea, Tremor, Hypertonia, Respiratory failure |
OMIM:617248 |
Sandhoff Disease |
|
Hepatomegaly, Kyphosis, Splenomegaly, Ataxia, Recurrent respiratory infections |
ORPHA:796 |
Adult Acute Respiratory Distress Syndrome |
|
Hypoxemia, Pneumonia, Pancreatitis, Abnormal blood gas level, Pulmonary edema, Pulmonary infiltra... |
ORPHA:70578 |
Hypomyelination Neuropathy-Arthrogryposis Syndrome |
|
Respiratory distress |
ORPHA:2680 |
Idiopathic Pulmonary Fibrosis |
|
Honeycomb lung, Crackles, Bronchiectasis, Ground-glass opacification, Cough, Exertional dyspnea, ... |
ORPHA:2032 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Microphthalmia, Sclerocornea, Anophthalmia, Cataract, Microcornea, Ectopia pupillae |
OMIM:615877 |
Scedosporiosis |
|
Sinusitis, Bronchial breath sound, Pericarditis, Abnormal respiratory system physiology, Pneumoni... |
ORPHA:449280 |
Laryngotracheal Angioma |
|
Wheezing, Stridor, Apnea, Cough, Respiratory distress, Cyanosis, Intercostal retractions |
ORPHA:137935 |
Emphysema, Congenital Lobar |
|
Respiratory distress |
OMIM:130710 |
Congenital Myasthenic Syndrome |
|
Respiratory arrest, Dysphagia, Stridor, Apneic episodes precipitated by illness, fatigue, stress,... |
ORPHA:590 |
Presynaptic Congenital Myasthenic Syndromes |
|
Respiratory arrest, Dysphagia, Stridor, Apneic episodes precipitated by illness, fatigue, stress,... |
ORPHA:98914 |
Sarcoidosis, Susceptibility To, 2 |
|
Hypoxemia, Hepatomegaly, Bronchiectasis, Pneumothorax, Pulmonary arterial hypertension, Elevated ... |
OMIM:612387 |
Anaplastic Thyroid Carcinoma |
|
Dysphagia, Neoplasm of the lung, Stridor, Vocal cord paralysis, Cough, Upper airway obstruction, ... |
ORPHA:142 |
Renal Tubular Dysgenesis |
|
Pulmonary hypoplasia, Tetralogy of Fallot |
ORPHA:3033 |
Tricuspid Atresia |
|
Ventricular septal defect, Tricuspid atresia, Hypoplasia of right ventricle, Transposition of the... |
ORPHA:1209 |
Neuronopathy, Distal Hereditary Motor, Type Viia |
|
Tremor, Vocal cord paralysis, Vocal cord paresis |
OMIM:158580 |
Seizures, Benign Familial Infantile, 3 |
|
Cyanosis, Apnea |
OMIM:607745 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Dilated cardiomyopathy, Dysphagia, Spinal deformities, Respiratory insufficiency due to muscle we... |
ORPHA:352447 |
Severe X-Linked Mitochondrial Encephalomyopathy |
|
Involuntary movements, Respiratory distress, Respiratory insufficiency, Tongue fasciculations |
ORPHA:238329 |
Ciliary Dyskinesia, Primary, 1 |
|
Pneumonia, Recurrent bronchitis, Bronchiectasis, Chronic rhinitis, Absent outer dynein arms, Chro... |
OMIM:244400 |
Scimitar Syndrome |
|
Abnormality of the vertebral column, Truncus arteriosus, Mitral atresia, Single ventricle, Abnorm... |
ORPHA:185 |
Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Dysphagia, Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic apnea, Respi... |
OMIM:254210 |
Cataract-Microcornea Syndrome |
|
Corneal dystrophy, Iris coloboma, Corneal opacity, Cataract, Microcornea |
ORPHA:1377 |
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism |
|
Pulmonary hypoplasia |
OMIM:613124 |
Tonne-Kalscheuer Syndrome |
|
Dysphagia, Abnormal heart morphology, Tremor, Spasticity, Pulmonary hypoplasia |
OMIM:300978 |
Epilepsy, Pyridoxine-Dependent |
|
Respiratory distress, Neonatal respiratory distress |
OMIM:266100 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Rigidity, Bradykinesia, Tremor, Respiratory distress, Parkinsonism with favorable response to dop... |
ORPHA:240085 |
Porphyria, Acute Hepatic |
|
Paralysis, Respiratory paralysis, Paresthesia |
OMIM:612740 |
Seizures, Benign Familial Infantile, 1 |
|
Cyanosis, Apnea |
OMIM:601764 |
Glut1 Deficiency Syndrome 1 |
|
Paralysis, Babinski sign, Choreoathetosis, Myoclonus, Hemiparesis, Ataxia, Spasticity |
OMIM:606777 |
Congenital Muscular Dystrophy With Intellectual Disability |
|
Poor gross motor coordination, Respiratory insufficiency, Decreased cervical spine mobility, Spin... |
ORPHA:370968 |
Spinocerebellar Ataxia Type 1 |
|
Postural tremor, Impaired proprioception, Dysphagia, Dysmetria, Chorea, Bradykinesia, Fasciculati... |
ORPHA:98755 |
Congenital Pulmonary Airway Malformation |
|
Respiratory insufficiency, Abnormal pleura morphology |
ORPHA:2444 |
Avian Influenza |
|
Productive cough, Hypoxemia, Pneumonia, Elevated hepatic transaminase, Tachypnea, Pneumothorax, G... |
ORPHA:454836 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Hypertrophic cardiomyopathy, Respiratory distress, Cyanosis |
ORPHA:91130 |
Muscular Dystrophy, Congenital, 1B |
|
Respiratory failure, Spinal rigidity |
OMIM:604801 |
Waardenburg Syndrome Type 3 |
|
Acrocyanosis, Atrial septal defect, Spastic paraplegia, Tracheomalacia, Atelectasis |
ORPHA:896 |
Trichomegaly |
|
Cataract |
OMIM:190330 |
Fryns Microphthalmia Syndrome |
|
Anophthalmia, Microphthalmia |
OMIM:600776 |
Spinocerebellar Ataxia, X-Linked 3 |
|
Dysphagia, Death in infancy, Episodic respiratory distress, Head titubation, Dysmetria, Episodic ... |
OMIM:301790 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Dysphagia, Respiratory insufficiency, Respiratory insu... |
ORPHA:365 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Intrauterine growth retardation, Cardiomyopathy, Respiratory distress, Hypertonia, Hepatic steatosis |
ORPHA:26792 |
Hepatic Veno-Occlusive Disease |
|
Respiratory failure, Hepatomegaly, Jaundice, Elevated hepatic transaminase |
ORPHA:890 |
Metatropic Dysplasia |
|
Respiratory insufficiency, Long coccyx, Platyspondyly, Kyphosis, Relatively short spine, Anisospo... |
OMIM:156530 |
Immunodeficiency 54 |
|
Hepatomegaly, Intrauterine growth retardation, Respiratory insufficiency, Splenomegaly, Respirato... |
OMIM:609981 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Bilateral lung agenesis, Abnormal cardiac septum morphology, Neonatal death, Respiratory insuffic... |
OMIM:601612 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory failure, Respiratory distress, Ventricular septal defect, Pulmonary hypoplasia |
OMIM:617895 |
Choanal Atresia |
|
Choking episodes, Chronic sinusitis, Upper airway obstruction, Respiratory distress, Cyanosis, Ab... |
ORPHA:137914 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Short neck, Pulmonary hypoplasia, Stillbirth, Neonatal death |
OMIM:236500 |
Congenital Lobar Emphysema |
|
Respiratory distress, Emphysema |
ORPHA:1928 |
Mitochondrial Complex I Deficiency, Nuclear Type 10 |
|
Dysphagia, Dysmetria, Apnea, Ataxia, Central hypoventilation, Respiratory failure |
OMIM:618233 |
Absence Of The Pulmonary Artery |
|
Hypocapnia, Truncus arteriosus, Bronchiectasis, Abnormal heart morphology, Abnormal pulmonary tho... |
ORPHA:980 |
Nipah Virus Disease |
|
Myoclonus, Cough, Tremor, Respiratory distress, Recurrent pharyngitis |
ORPHA:99825 |
Farber Disease |
|
Respiratory insufficiency, Hepatic fibrosis, Elevated hepatic transaminase, Diffuse reticular or ... |
ORPHA:333 |
Esophageal Atresia |
|
Ventricular septal defect, Chronic pulmonary obstruction, Episodic respiratory distress, Laryngot... |
ORPHA:1199 |
Tracheal Agenesis |
|
Abnormal cardiac septum morphology, Aplasia/Hypoplasia of the lungs, Respiratory insufficiency |
ORPHA:3346 |
Scheuermann Disease |
|
Morbus Scheuermann, Kyphosis |
OMIM:181440 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Crazy paving pattern, Hypoxemia, Crackles, Cough, Cyanosis, Decreased DLCO, Restrictive ventilato... |
ORPHA:747 |
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome |
|
Neonatal asphyxia, Vocal cord paralysis, Congenital laryngeal stridor, Bronchiectasis |
ORPHA:2375 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Neonatal death, Hepatic steatosis, Respiratory distress, Pulmonary hypoplasia, Hepa... |
OMIM:231680 |
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Abnormal breath sound, Crackles, Elevated hepatic transaminase, Myocardial fibrosis, Cough, Nodul... |
ORPHA:210136 |
3-Methylglutaconic Aciduria Type 7 |
|
Opisthotonus, Progressive extrapyramidal movement disorder, Choreoathetosis, Elevated hepatic tra... |
ORPHA:445038 |
Isochromosomy Yq |
|
Male infertility, Azoospermia |
ORPHA:98798 |
Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Dysphagia, Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic apnea, Respi... |
OMIM:605809 |
Mental Retardation, X-Linked 82 |
|
Scoliosis, Kyphosis |
OMIM:300518 |
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Developmental cataract, Cataract |
OMIM:613076 |
Pulmonary Venoocclusive Disease 2, Autosomal Recessive |
|
Pulmonary capillary hemangiomatosis, Centrilobular ground-glass opacification on pulmonary HRCT, ... |
OMIM:234810 |
Microphthalmia With Brain And Digit Anomalies |
|
Microphthalmia, Sclerocornea, Anophthalmia, Iris coloboma, Cataract, Microcornea |
ORPHA:139471 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Babinski sign, Dysphagia, Lower limb spasticity, Fasciculations, Ankle clonus, Tetraparesis, Spas... |
OMIM:613954 |
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Babinski sign, Dysmetria, Myoclonus, Intention tremor, Tremor, Ataxia, Hypertonia, Distal sensory... |
OMIM:616505 |
Ciliary Dyskinesia, Primary, 2 |
|
Sinusitis, Dextrocardia, Ciliary dyskinesia, Bronchiectasis, Situs inversus totalis, Absent inner... |
OMIM:606763 |
Pallister-Hall-Like Syndrome |
|
Death in infancy, Abnormal heart morphology, Pulmonary hypoplasia |
OMIM:241800 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Thoracic kyphoscoliosis, Restrictive ventilatory defect, Exertional dyspnea, Cyanosis, Orthopnea,... |
ORPHA:98913 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Ventricular septal defect, Double outlet right ventricle, Atrial septal defect, Tetralogy of Fall... |
OMIM:618316 |
Bullous Dystrophy, Hereditary Macular Type |
|
Acrocyanosis, Death in childhood |
OMIM:302000 |
Laryngeal Abductor Paralysis |
|
Cyanosis, Vocal cord paralysis, Stridor, Dysphagia |
OMIM:150260 |
Lethal Congenital Contracture Syndrome 1 |
|
Neonatal death, Pulmonary hypoplasia, Widening of cervical spinal canal |
OMIM:253310 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Hemivertebrae, Abnormal form of the vertebral bodies, Respiratory distress, Recurrent respiratory... |
ORPHA:2759 |
Familial Scheuermann Disease |
|
Abnormal form of the vertebral bodies, Kyphosis |
ORPHA:3135 |
Idiopathic Bronchiectasis |
|
Wheezing, Productive cough, Abnormal respiratory system physiology, Crackles, Bronchiectasis, Red... |
ORPHA:60033 |
Nephronophthisis 2 |
|
Respiratory failure, Situs inversus totalis, Pulmonary hypoplasia, Respiratory insufficiency |
OMIM:602088 |
Fetal Akinesia Deformation Sequence |
|
Pulmonary hypoplasia, Intrauterine growth retardation, Respiratory insufficiency, Scoliosis |
ORPHA:994 |
Pleoconial Myopathy With Salt Craving |
|
Paralysis, Salt craving |
OMIM:262900 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Neonatal respiratory distress, Intrauterine growth retardation, Respiratory insufficiency, Death ... |
OMIM:245400 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Hypertrophic cardiomyopathy, Death in infancy, Pancreatitis, Hepatic steatosis, Elevated circulat... |
OMIM:619386 |
Chronic Beryllium Disease |
|
Reticulonodular pattern on pulmonary HRCT, Abnormal respiratory system physiology, Lymphocytic in... |
ORPHA:133 |
Congenital Disorder Of Glycosylation, Type Ix |
|
Decreased liver function, Respiratory distress, Intrauterine growth retardation, Death in childhood |
OMIM:615597 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Frequent falls, Torticollis, Kyphosis, Spinal rigidity, Respiratory failure, Short neck, Scoliosis |
ORPHA:75840 |
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities |
|
Ventricular septal defect, Truncus arteriosus, Respiratory insufficiency, Neonatal death, Respira... |
OMIM:228940 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Hypoxemia, Hepatomegaly, Ventricular septal defect, Biventricular hypertrophy, Abnormal mitral va... |
ORPHA:860 |
Meckel Syndrome, Type 8 |
|
Anophthalmia, Microphthalmia |
OMIM:613885 |
Autosomal Dominant Keratitis |
|
Abnormality of the corneal limbus, Hypoplasia of the fovea, Aniridia, Hypoplastic iris stroma, Li... |
ORPHA:2334 |
Atypical Rett Syndrome |
|
Involuntary movements, Limb myoclonus, Sudden episodic apnea, Abnormal pattern of respiration, Im... |
ORPHA:3095 |
Anterior Segment Dysgenesis 7 |
|
Buphthalmos, Microphthalmia, Sclerocornea, Cataract, Microcornea, Ocular anterior segment dysgenesis |
OMIM:269400 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Bruising susceptibility, Mitral valve prolapse, Pulmonary hypoplasia, Respiratory insufficiency, ... |
ORPHA:536467 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Dysphagia, Intercostal muscle weakness, Respiratory insufficiency, Pulmonary arterial hypertensio... |
ORPHA:258 |
Proximal Spinal Muscular Atrophy |
|
Dysphagia, Neonatal respiratory distress, Recurrent aspiration pneumonia, Intercostal muscle weak... |
ORPHA:70 |
Myopathy And Diabetes Mellitus |
|
Babinski sign, Frequent falls, Progressive cerebellar ataxia, Respiratory distress, Impaired vibr... |
ORPHA:2596 |
Primary Dystonia, Dyt4 Type |
|
Involuntary movements, Dysphagia, Torticollis, Kyphoscoliosis, Respiratory distress, Dysdiadochok... |
ORPHA:98805 |
Spinocerebellar Ataxia Type 32 |
|
Testicular atrophy, Male infertility, Azoospermia |
ORPHA:276183 |
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Respiratory distress |
ORPHA:171703 |
Aphalangy With Hemivertebrae |
|
Ventricular septal defect, Pulmonary hypoplasia, Hemivertebrae |
OMIM:207620 |
Hereditary Motor And Sensory Neuropathy, Type Iic |
|
Intercostal muscle weakness, Stridor, Obstructive sleep apnea, Vocal cord paresis, Distal sensory... |
OMIM:606071 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Pulmonary hypoplasia |
ORPHA:2141 |
Cystic Echinococcosis |
|
Abnormality of the vertebral column, Hepatomegaly, Splenic cyst, Peritoneal abscess, Biliary trac... |
ORPHA:400 |
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Neonatal respiratory distress, Interstitial pneumonitis, Tachypnea, Spontaneous neonatal pneumoth... |
ORPHA:217563 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Hypertrophic cardiomyopathy, Respiratory distress, Death in infancy |
OMIM:604377 |
Kagami-Ogata Syndrome |
|
Hepatomegaly, Ventricular septal defect, Kyphoscoliosis, Pulmonary arterial hypertension, Splenom... |
OMIM:608149 |
Locked-In Syndrome |
|
Respiratory insufficiency, Cerebral palsy, Tetraplegia, Hypertonia, Spasticity, Tetraparesis, Rec... |
ORPHA:2406 |
Lethal Congenital Contracture Syndrome 10 |
|
Ventricular septal defect, Intrauterine growth retardation, Torticollis, Cardiomegaly, Overriding... |
OMIM:617022 |
Hydrocephalus With Associated Malformations |
|
Pulmonary hypoplasia, Intrauterine growth retardation |
OMIM:236640 |
Neuropathy, Hereditary Motor And Sensory, Russe Type |
|
Paralysis, Scoliosis |
OMIM:605285 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Cough, Generalized abnormality of skin, Recurrent respiratory infections, Scoliosis, Atelectasis |
ORPHA:2314 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Respiratory insufficiency, Respiratory insufficiency d... |
ORPHA:308552 |
Anencephaly 2 |
|
Anophthalmia |
OMIM:619452 |
Pulmonary Hemosiderosis |
|
Pulmonary fibrosis, Respiratory insufficiency, Recurrent intrapulmonary hemorrhage, Transient pul... |
OMIM:178550 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Intrauterine growth retardation, Cardiome... |
OMIM:616897 |
Aspergillosis |
|
Sinusitis, Abnormality of the vertebral column, Chronic pulmonary obstruction, Pneumonia, Bronchi... |
ORPHA:1163 |
Congenital Neuronal Ceroid Lipofuscinosis |
|
Neonatal respiratory distress, Apnea, Central sleep apnea, Spasticity, Respiratory failure |
ORPHA:168486 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Abnormal lung lobation, Abnormal heart morphology, Short neck, Pulmonary hypoplasia, Periportal f... |
OMIM:263210 |
Ciliary Dyskinesia, Primary, 30 |
|
Dextrocardia, Chronic bronchitis, Respiratory insufficiency, Ciliary dyskinesia, Bronchiectasis, ... |
OMIM:616037 |
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome |
|
Acrocyanosis |
ORPHA:86918 |
Niemann-Pick Disease, Type B |
|
Hepatomegaly, Splenomegaly, Recurrent respiratory infections, Diffuse reticular or finely nodular... |
OMIM:607616 |
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome |
|
Recurrent respiratory infections, Aplasia/Hypoplasia of the lungs, Scoliosis, Kyphosis |
ORPHA:1548 |
Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Hemosiderin-laden macrophages in bronchoalveolar fluid, Tachypnea, Cough, Pulmonary hemorrhage, A... |
OMIM:616414 |
Myotubular Myopathy With Abnormal Genital Development |
|
Respiratory distress, Neonatal death, Death in infancy, Atelectasis |
OMIM:300219 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Respiratory distress, Hepatic steatosis |
OMIM:615595 |
Neuromyelitis Optica Spectrum Disorder |
|
Respiratory failure, Paraplegia, Somatic sensory dysfunction |
ORPHA:71211 |
Alg1-Cdg |
|
Abnormal heart morphology, Cardiomyopathy, Kyphosis, Decreased liver function, Respiratory failur... |
ORPHA:79327 |
Severe Congenital Nemaline Myopathy |
|
Respiratory failure, Dysphagia, Pulmonary hypoplasia |
ORPHA:171430 |
Microphthalmia, Syndromic 5 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Cataract, Microcornea |
OMIM:610125 |
Congenital Disorder Of Glycosylation, Type Iu |
|
Neonatal respiratory distress, Death in infancy, Respiratory distress, Elevated hepatic transamin... |
OMIM:615042 |
Combined Oxidative Phosphorylation Deficiency 4 |
|
Hepatomegaly, Death in infancy, Intrauterine growth retardation, Opisthotonus, Spasticity, Respir... |
OMIM:610678 |
Leigh Syndrome |
|
Hepatocellular necrosis, Respiratory insufficiency, Abnormal pattern of respiration, Ataxia, Spas... |
OMIM:256000 |
Microphthalmia, Syndromic 9 |
|
Ventricular septal defect, Hypoplastic left atrium, Intrauterine growth retardation, Respiratory ... |
OMIM:601186 |
Galactosemia Iv |
|
Cataract |
OMIM:618881 |
Diffuse Alveolar Hemorrhage |
|
Hypoxemia, Irregular septal thickening on pulmonary HRCT, Ground-glass opacification, Cough, Pulm... |
ORPHA:90060 |
Megalocornea |
|
Decreased corneal thickness, Corneal arcus, Lens subluxation, Iris transillumination defect, Irid... |
OMIM:309300 |
Snakebite Envenomation |
|
Paralysis, Ecchymosis, Pseudobulbar paralysis, Angioedema, Epistaxis, Respiratory paralysis, Eryt... |
ORPHA:449285 |
Alg3-Cdg |
|
Cardiomyopathy, Spastic tetraparesis, Decreased liver function, Hypertonia, Pulmonary hypoplasia |
ORPHA:79321 |
Multiple Pterygium Syndrome, X-Linked |
|
Intrauterine growth retardation, Vertebral fusion, Hypoplastic heart, Pulmonary hypoplasia, Abnor... |
OMIM:312150 |
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
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Hepatomegaly, Abnormality of the liver, Respiratory distress, Ventilator dependence with inabilit... |
ORPHA:254864 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
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Respiratory failure, Pulmonary arterial hypertension, Respiratory insufficiency |
OMIM:605711 |
Anterior Segment Dysgenesis 8 |
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Persistent pupillary membrane, Hypoplasia of the iris, Ectopia lentis, Microphakia, Iris transill... |
OMIM:617319 |
Oculocerebrocutaneous Syndrome |
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Anophthalmia, Microphthalmia |
OMIM:164180 |
Venular Insufficiency, Systemic |
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Cyanosis |
OMIM:192700 |
Sulfhemoglobinemia, Congenital |
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Cyanosis |
OMIM:185460 |
Tetrasomy 5P |
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Pulmonary arterial hypertension, Respiratory distress, Cyanosis, Recurrent respiratory infections... |
ORPHA:3309 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
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Recurrent respiratory infections, Kyphosis |
ORPHA:85288 |
Charcot-Marie-Tooth Disease Type 4A |
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Poor gross motor coordination, Impaired distal proprioception, Impaired distal tactile sensation,... |
ORPHA:99948 |
Short-Rib Thoracic Dysplasia 12 |
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Hepatomegaly, Ventricular septal defect, Intrauterine growth retardation, Respiratory insufficien... |
OMIM:269860 |
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
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Respiratory insufficiency, Cardiomyopathy, Fusion of midcervical facet joints, Distal sensory imp... |
OMIM:606842 |
Benign Familial Infantile Epilepsy |
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Cyanosis, Hypertonia, Apnea, Limb myoclonus |
ORPHA:306 |
Congenital Varicella Syndrome |
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Microphthalmia, Cataract |
ORPHA:291 |
Acute Peripheral Arterial Occlusion |
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Paralysis, Impaired distal tactile sensation, Paresthesia |
ORPHA:90064 |
Spastic Paraplegia 46, Autosomal Recessive |
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Upper limb dysmetria, Babinski sign, Knee clonus, Upper limb spasticity, Spastic paraplegia, Spas... |
OMIM:614409 |
Leukodystrophy, Hypomyelinating, 17 |
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Respiratory distress, Kyphoscoliosis |
OMIM:618006 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
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Postural tremor, Babinski sign, Impaired temperature sensation, Paresthesia, Frequent falls, Impa... |
ORPHA:99947 |
Arnold-Chiari Malformation Type Ii |
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Dysphagia, Opisthotonus, Pneumonia, Paraplegia, Apnea, Paraparesis, Ataxia, Cyanosis, Spasticity,... |
ORPHA:1136 |
Renal Tubular Dysgenesis |
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Pulmonary hypoplasia, Respiratory insufficiency |
OMIM:267430 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
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Impaired pain sensation, Kyphosis, Tremor, Ataxia, Scoliosis |
ORPHA:101075 |
Methemoglobinemia, Beta Type |
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Cyanosis |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
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Cyanosis |
OMIM:617973 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
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Dilated cardiomyopathy, Respiratory distress, Respiratory insufficiency due to muscle weakness |
OMIM:300580 |
Vacterl Association With Hydrocephalus |
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Abnormality of the vertebral column, Respiratory insufficiency, Abnormal vertebral morphology, Ab... |
OMIM:276950 |
Lethal Congenital Contracture Syndrome Type 1 |
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Abnormal form of the vertebral bodies, Short neck, Pulmonary hypoplasia |
ORPHA:1486 |
Toxin-Mediated Infectious Botulism |
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Paralysis, Diaphragmatic paralysis, Dysphagia, Cerebral palsy, Respiratory insufficiency due to m... |
ORPHA:230800 |
Surfactant Metabolism Dysfunction, Pulmonary, 5 |
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Respiratory insufficiency, Interlobular septal thickening, Ground-glass opacification, Exertional... |
OMIM:614370 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
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Cough, Cardiomyopathy, Left ventricular hypertrophy, Respiratory distress, Spinal rigidity, Dyspn... |
ORPHA:86812 |
Episodic Ataxia Type 1 |
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Clumsiness, Poor coordination, Choreoathetosis, Kyphoscoliosis, Respiratory distress, Hypertonia,... |
ORPHA:37612 |
Combined Oxidative Phosphorylation Deficiency 28 |
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Respiratory failure |
OMIM:616794 |
Multiple Pterygium Syndrome, Lethal Type |
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Intrauterine growth retardation, Vertebral fusion, Hypoplastic heart, Pulmonary hypoplasia, Abnor... |
OMIM:253290 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
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Microcornea, Microphthalmia, Cataract |
ORPHA:2528 |
Multiple Mitochondrial Dysfunctions Syndrome 3 |
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Respiratory failure, Intrauterine growth retardation, Respiratory insufficiency, Spastic tetraplegia |
OMIM:615330 |
Stuve-Wiedemann Syndrome 1 |
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Dysphagia, Respiratory insufficiency, Impaired pain sensation, Pulmonary arterial medial hypertro... |
OMIM:601559 |
Eosinophilic Granulomatosis With Polyangiitis |
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Sinusitis, Myocarditis, Hypertrophic cardiomyopathy, Dysphagia, Respiratory insufficiency, Endoca... |
ORPHA:183 |
Complete Atrioventricular Septal Defect |
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Wheezing, Hepatomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, Crac... |
ORPHA:1329 |
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect |
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Pulmonary hypoplasia |
OMIM:617468 |
X-Linked Centronuclear Myopathy |
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Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve... |
ORPHA:596 |
Pulmonary Arteriovenous Malformation |
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Hypoxemia, Bacterial endocarditis, Telangiectasia, Epistaxis, Pulmonary arterial hypertension, Pu... |
ORPHA:2038 |
Mitochondrial Complex I Deficiency, Nuclear Type 18 |
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Respiratory failure, Myoclonus, Death in infancy |
OMIM:618240 |
Neurogenic Arthrogryposis Multiplex Congenita |
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Abnormal heart morphology, Respiratory insufficiency due to muscle weakness, Fasciculations, Resp... |
ORPHA:1143 |
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
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Hypertrophic cardiomyopathy, Hepatomegaly, Death in infancy, Intrauterine growth retardation, Abn... |
ORPHA:1194 |
Xeroderma Pigmentosum, Complementation Group G |
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Microphthalmia, Cataract |
OMIM:278780 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
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Dysphagia, Neonatal respiratory distress, Cardiomyopathy, Secundum atrial septal defect, Pulmonar... |
OMIM:616866 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
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Ventricular septal defect, Aortopulmonary window, Anomalous origin of left pulmonary artery from ... |
ORPHA:99050 |
Slc35A1-Cdg |
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Hypoxemia, Pneumonia, Pulmonary hemorrhage, Subcutaneous hemorrhage, Respiratory distress |
ORPHA:238459 |
Parastremmatic Dwarfism |
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Short neck, Scoliosis, Kyphosis |
OMIM:168400 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
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Portal hypertension, Hepatomegaly, Pancreatic cysts, Hepatic cysts, Neonatal death, Splenomegaly,... |
OMIM:263200 |
Neuronopathy, Distal Hereditary Motor, Type Iib |
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Paralysis |
OMIM:608634 |
Laryngeal Web, Familial |
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Respiratory distress, Recurrent upper respiratory tract infections, Stridor |
OMIM:150360 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
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Dysphagia, Impaired temperature sensation, Stridor, Impaired pain sensation, Kyphoscoliosis, Fasc... |
OMIM:619574 |
Spinocerebellar Ataxia, Autosomal Recessive 8 |
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Dysmetria, Kyphosis, Ataxia, Spasticity, Limb ataxia, Gait ataxia, Scoliosis |
OMIM:610743 |
Whim Syndrome |
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Sinusitis, Pneumonia, Bronchiectasis, Respiratory tract infection, Recurrent upper respiratory tr... |
ORPHA:51636 |
Lymphangioleiomyomatosis |
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Chylopericardium, Pneumothorax, Cough, Pulmonary lymphangiomyomatosis, Pulmonary infiltrates, Res... |
ORPHA:538 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive |
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Respiratory distress, Lymphocytic interstitial pneumonia |
OMIM:245590 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
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Aniridia, Microcornea, Cataract |
OMIM:106230 |
Trisomy 13 |
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Microphthalmia, Anophthalmia, Aplasia/Hypoplasia of the iris, Iris coloboma, Cataract |
ORPHA:3378 |
Niemann-Pick Disease, Type C2 |
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Hepatomegaly, Dysphagia, Respiratory insufficiency, Prolonged neonatal jaundice, Cataplexy, Stere... |
OMIM:607625 |
Variegate Porphyria |
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Paralysis, Cutaneous photosensitivity |
OMIM:176200 |
Bickerstaff Brainstem Encephalitis |
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Impaired proprioception, Babinski sign, Pneumonia, Dysesthesia, Hypercapnia, Tetraplegia, Ataxia,... |
ORPHA:79138 |
Niemann-Pick Disease Type C |
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Clumsiness, Cataplexy, Progressive gait ataxia, Splenomegaly, Hepatosplenomegaly, Abnormal lung m... |
ORPHA:646 |
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1 |
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Crackles, Obstructive sleep apnea, Cough, Cirrhosis, Reticular pattern on pulmonary HRCT, Decreas... |
OMIM:614742 |
Lethal Congenital Contracture Syndrome 7 |
|
Paralysis, Oral-pharyngeal dysphagia |
OMIM:616286 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
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Hepatomegaly, Hepatocellular necrosis, Respiratory insufficiency, Tachypnea, Cardiomegaly, Tetrap... |
OMIM:618278 |
Neuronopathy, Distal Hereditary Motor, Type Iia |
|
Paralysis |
OMIM:158590 |
Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Spinal rigidity, Scoliosis, Dysphagia, Kyphosis |
OMIM:618323 |
Nephronophthisis-Like Nephropathy 2 |
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Polydipsia, Bronchiectasis, Cough, Pulmonary infiltrates, Recurrent respiratory infections |
OMIM:619468 |
Muscular Dystrophy, Duchenne Type |
|
Dilated cardiomyopathy, Respiratory insufficiency, Cardiomyopathy, Hypoventilation, Hyperlordosis... |
OMIM:310200 |
Truncus Arteriosus |
|
Ventricular septal defect, Intrauterine growth retardation, Truncus arteriosus, Abnormal lung lob... |
ORPHA:3384 |
Renal Dysplasia-Limb Defects Syndrome |
|
Intrauterine growth retardation, Pneumothorax, Neonatal death, Respiratory distress, Respiratory ... |
OMIM:266910 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation |
|
Microphthalmia, Cataract |
OMIM:120433 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Exertional dyspnea, Hypertonia, Opisthotonus, Cyanosis |
OMIM:250800 |
Lujo Hemorrhagic Fever |
|
Myocarditis, Ecchymosis, Dysphagia, Crackles, Rhinitis, Fulminant hepatitis, Respiratory distress... |
ORPHA:319213 |
Congenital Disorder Of Glycosylation, Type Iy |
|
Respiratory distress, Scoliosis |
OMIM:300934 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Impaired pain sensation, Kyphosis, Tremor, Ataxia, Scoliosis |
ORPHA:101078 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Hypertrophic cardiomyopathy, Paroxysmal dyspnea, Stridor, Right ventricular hypertrophy, Left ven... |
ORPHA:444013 |
Spondylospinal Thoracic Dysostosis |
|
Pulmonary hypoplasia |
OMIM:601809 |
Primary Effusion Lymphoma |
|
Pericardial effusion, Dyspnea, Pleural effusion, Abnormality of the peritoneum |
ORPHA:48686 |
Joubert Syndrome 21 |
|
Apnea, Ataxia, Oculomotor apraxia, Dyspnea, Pulmonary hypoplasia |
OMIM:615636 |
Horizontal Gaze Palsy With Progressive Scoliosis |
|
Short neck, Scoliosis, Kyphosis |
ORPHA:2744 |
Mercury Poisoning |
|
Interstitial pneumonitis, Tremor, Respiratory distress, Respiratory failure, Dyspnea |
ORPHA:330021 |
Laryngeal Abductor Paralysis |
|
Paralysis, Congenital laryngeal stridor |
OMIM:308850 |
Lymphoid Interstitial Pneumonia |
|
Wheezing, Subpleural interstitial thickening, Hypoxemia, Hepatomegaly, Crackles, Bronchiectasis, ... |
ORPHA:79128 |
Marden-Walker Syndrome |
|
Dextrocardia, Intrauterine growth retardation, Kyphosis, Short neck, Pulmonary hypoplasia, Scoliosis |
OMIM:248700 |
Chorea, Remitting, With Nystagmus And Cataract |
|
Cataract |
OMIM:601372 |
Legionnaires Disease |
|
Myocarditis, Restrictive ventilatory defect, Pericarditis, Respiratory insufficiency, Endocarditi... |
ORPHA:549 |
Maternal Uniparental Disomy Of Chromosome 2 |
|
Neonatal respiratory distress, Intrauterine growth retardation, C1-C2 vertebral abnormality, Pulm... |
ORPHA:96179 |
Lopes-Maciel-Rodan Syndrome |
|
Dysphagia, Bradykinesia, Kyphosis, Tremor, Hypertonia, Ankle clonus, Spasticity, Abnormal pyramid... |
OMIM:617435 |
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1 |
|
Diaphragmatic paralysis, Intrauterine growth retardation, Tachypnea, Ventilator dependence with i... |
OMIM:604320 |
Synaptic Congenital Myasthenic Syndromes |
|
Dysphagia, Neonatal respiratory distress, Respiratory insufficiency, Frequent falls, Right ventri... |
ORPHA:98915 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Bicuspid aortic valve, Aplasia/Hypoplasia of the lungs, Death in infancy, Respiratory insufficien... |
ORPHA:1120 |
Meacham Syndrome |
|
Dextrocardia, Bicuspid aortic valve, Ventricular septal defect, Death in infancy, Neonatal death,... |
OMIM:608978 |
Tularemia |
|
Pneumonia, Abnormal pulmonary thoracic imaging finding, Cough, Respiratory distress, Pulmonary in... |
ORPHA:3392 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Splenomegaly, Respiratory failure, Recurrent respiratory infections, Bruising susce... |
ORPHA:3226 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Hepatic fibrosis, Asplenia, Pancreatic cysts, Bile duct proliferation, Hepatic cyst... |
OMIM:208540 |
Intermediate Nemaline Myopathy |
|
Respiratory failure, Dysphagia |
ORPHA:171433 |
Sialidosis Type 2 |
|
Hepatomegaly, Splenomegaly, Tremor, Ataxia, Kyphosis, Dyspnea |
ORPHA:87876 |
Congenital Disorder Of Glycosylation, Type Ie |
|
Hepatomegaly, Telangiectasia, Splenomegaly, Tremor, Respiratory distress, Ataxia, Elevated hepati... |
OMIM:608799 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Hepatomegaly, Choreoathetosis, Chorea, Pancreatitis, Respiratory distress, Hemiplegia/hemiparesis |
ORPHA:289916 |
Leigh Syndrome With Cardiomyopathy |
|
Involuntary movements, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Dysphagia, Chorea, Ap... |
ORPHA:70474 |
Chiari Malformation Type Ii |
|
Dysphagia, Opisthotonus, Ataxia, Cyanosis, Inspiratory stridor |
OMIM:207950 |
Ciliary Dyskinesia, Primary, 18 |
|
Chronic bronchitis, Respiratory insufficiency, Ciliary dyskinesia, Rhinitis, Respiratory insuffic... |
OMIM:614874 |
Cdkl5-Deficiency Disorder |
|
Abnormal respiratory system physiology, Impaired pain sensation, Kyphosis, Stereotypical hand wri... |
ORPHA:505652 |
Anophthalmia Plus Syndrome |
|
Anophthalmia, Iris coloboma |
ORPHA:1104 |
Acromesomelic Dysplasia, Maroteaux Type |
|
Vertebral wedging, Beaking of vertebral bodies, Abnormal form of the vertebral bodies, Ovoid vert... |
ORPHA:40 |
Hereditary Methemoglobinemia |
|
Athetosis, Spastic tetraplegia, Exertional dyspnea, Hypertonia, Cyanosis, Spasticity |
ORPHA:621 |
Vocal Cord Paralysis And Ptosis |
|
Vocal cord paralysis |
OMIM:193240 |
Anterior Segment Dysgenesis 2 |
|
Anterior segment of eye aplasia, Microphthalmia, Sclerocornea, Congenital aphakia, Aniridia, Pete... |
OMIM:610256 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Myoclonus, Respiratory distress, Hypertonia, Ataxia, Spasticity |
OMIM:618426 |
Chitayat Syndrome |
|
Tracheomalacia, Respiratory distress, Recurrent respiratory infections, Abnormal pulmonary inters... |
OMIM:617180 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Paroxysmal dyspnea, Mitral atresia, Single ventricle, Exertional dyspnea, Supracardiac total anom... |
ORPHA:99125 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Kyphosis, Macrovesicular hepatic steatosis, Scoliosis |
OMIM:618234 |
Surfactant Metabolism Dysfunction, Pulmonary, 4 |
|
Reduced forced expiratory volume in one second, Tachypnea, Ground-glass opacification, Decreased ... |
OMIM:300770 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Progressive spasticity, Dysphagia, Cataplexy, Fasciculations, Stereotypy, Tetraplegia, Ataxia, Re... |
ORPHA:496641 |
Riddle Syndrome |
|
Clumsiness, Telangiectasia, Pneumonia, Poor hand-eye coordination, Chronic sinusitis, Conjunctiva... |
ORPHA:420741 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Respiratory insufficiency, Abnormal heart morphology, Anisospondyly, Short neck, Pulmonary hypopl... |
ORPHA:1865 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Death in infancy, Respiratory insufficiency, Hepatic fibrosis, Pancreatic cysts, Bile duct prolif... |
OMIM:208500 |
Folinic Acid-Responsive Seizures |
|
Chorea, Apnea, Spastic tetraparesis, Respiratory distress, Hypertonia, Ataxia |
ORPHA:79097 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Pulmonary hypoplasia |
OMIM:601163 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
|
Death in infancy, Tremor, Ataxia, Tetraparesis, Respiratory failure |
OMIM:617186 |
Ciliary Dyskinesia, Primary, 42 |
|
Chronic pulmonary obstruction, Respiratory insufficiency, Pneumonia, Bronchiectasis, Chronic rhin... |
OMIM:618695 |
Autosomal Recessive Polycystic Kidney Disease |
|
Abnormality of the intrahepatic bile duct, Cholangitis, Cholangiocarcinoma, Splenomegaly, Biliary... |
ORPHA:731 |
Coats Disease |
|
Cataract, Aplasia/Hypoplasia of the iris, Abnormal anterior chamber morphology |
ORPHA:190 |
Congenital Bilateral Absence Of Vas Deferens |
|
Oligospermia, Obstructive azoospermia, Male infertility |
ORPHA:48 |
Cyanosis, Transient Neonatal |
|
Hepatomegaly, Cyanosis, Jaundice |
OMIM:613977 |
Congenital Disorder Of Deglycosylation 1 |
|
Involuntary movements, Athetosis, Hepatomegaly, Impaired oral bolus formation, Dysmetria, Chorea,... |
OMIM:615273 |
Manitoba Oculotrichoanal Syndrome |
|
Anophthalmia, Microphthalmia |
OMIM:248450 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Dilated cardiomyopathy, Hepatomegaly, Concentric hypertrophic cardiomyopathy, Intrauterine growth... |
OMIM:610505 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Dysphagia, Elevated hepatic transaminase, Abnormal heart morphology, Cardiomyopathy... |
ORPHA:26791 |
Cystic Hamartoma Of Lung And Kidney |
|
Recurrent respiratory infections, Respiratory insufficiency, Pulmonary fibrosis |
ORPHA:2111 |
Laryngeal Adductor Paralysis |
|
Paralysis |
OMIM:150270 |
Peripartum Cardiomyopathy |
|
Dilated cardiomyopathy, Myocarditis, Paroxysmal dyspnea, Left atrial enlargement, Right ventricul... |
ORPHA:563 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Microphthalmia, Cataract, Iris coloboma |
OMIM:212550 |
Greenberg Dysplasia |
|
Hepatomegaly, Hepatic calcification, Absent or minimally ossified vertebral bodies, Horizontal sa... |
OMIM:215140 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Abnormally ossified vertebrae, Pulmonary hypoplasia, Intrauterine growth retardation, Splenomegaly |
ORPHA:3035 |
Oculopharyngodistal Myopathy |
|
Recurrent aspiration pneumonia, Paraplegia, Oral-pharyngeal dysphagia, Respiratory insufficiency ... |
ORPHA:98897 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Aplasia/Hypoplasia of the lungs, Respiratory insufficiency, Splenomegaly |
ORPHA:1046 |
Postencephalitic Parkinsonism |
|
Involuntary movements, Babinski sign, Dysphagia, Abnormal respiratory system physiology, Rigidity... |
ORPHA:97349 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Single ventricle, Erythema, Stillbirth, Vertebral hypoplasia, Abnormal cardiac septum morphology,... |
OMIM:308050 |
Hsd10 Disease, Infantile Type |
|