| Methemoglobinemia, Beta Type |
|
Methemoglobinemia, Cyanosis |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Methemoglobinemia, Cyanosis |
OMIM:617973 |
| Cyanosis, Transient Neonatal |
|
Reticulocytosis, Jaundice, Anemia, Methemoglobinemia, Cyanosis |
OMIM:613977 |
| Seizures, Benign Familial Infantile, 3 |
|
Apnea, Cyanosis, Normal interictal EEG |
OMIM:607745 |
| Ravine Syndrome |
|
Apnea, Decreased body weight, Abnormal auditory evoked potentials, Abnormal brainstem morphology,... |
ORPHA:99852 |
| Seizures, Benign Familial Infantile, 1 |
|
Apnea, Cyanosis, Normal interictal EEG |
OMIM:601764 |
| Cyanosis And Hepatic Disease |
|
Cyanosis, Dyspnea |
OMIM:219400 |
| Pulmonary Blastoma |
|
Cough, Dyspnea, Weight loss, Recurrent pneumonia |
ORPHA:64741 |
| Apnea, Central Sleep |
|
Cyanosis, Sleep apnea, Irregular respiration, Abnormal pattern of respiration |
OMIM:207720 |
| Cryptogenic Organizing Pneumonia |
|
Restrictive ventilatory defect, Wheezing, Dyspnea, Respiratory distress, Leukocytosis, Cough, Non... |
ORPHA:1302 |
| Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Cough, Respiratory failure, Failure to thrive, Tachypnea, Cyanosis |
OMIM:263000 |
| Cholesterol Pneumonia |
|
Tachypnea, Cyanosis, Pneumonia, Cough |
OMIM:215030 |
| Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome |
|
Acrocyanosis |
ORPHA:86918 |
| Laryngotracheal Angioma |
|
Apnea, Wheezing, Respiratory distress, Cough, Intercostal retractions, Cyanosis, Stridor |
ORPHA:137935 |
| Idiopathic Achalasia |
|
Wheezing, Dysphagia, Cough, Weight loss, Recurrent aspiration pneumonia |
ORPHA:930 |
| Laryngotracheoesophageal Cleft |
|
Choking episodes, Dyspnea, Cough, Neonatal respiratory distress, Impaired oropharyngeal swallow r... |
ORPHA:2004 |
| Venular Insufficiency, Systemic |
|
Cyanosis |
OMIM:192700 |
| Sulfhemoglobinemia, Congenital |
|
Cyanosis |
OMIM:185460 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Abnormal hemoglobin, Anemia |
ORPHA:231249 |
| Bronchopulmonary Dysplasia |
|
Wheezing, Hyperoxemia, Respiratory distress, Abnormal respiratory system physiology, Dyspnea, Cou... |
ORPHA:70589 |
| Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
| Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Cyanosis, Respiratory distress, Failure to thrive |
ORPHA:91130 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia, Cyanosis, Exertional dyspnea |
OMIM:250800 |
| Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset |
|
Restrictive ventilatory defect, Respiratory distress, Dysphagia, Respiratory insufficiency, Respi... |
OMIM:614399 |
| Acute Myelomonocytic Leukemia |
|
Dyspnea, Leukocytosis, Weight loss, Thrombocytopenia, Anemia, Eosinophilia |
ORPHA:517 |
| Pleural Mesothelioma |
|
Dyspnea, Respiratory distress, Abnormal respiratory system physiology, Pleural effusion, Cough, D... |
ORPHA:50251 |
| Recurrent Respiratory Papillomatosis |
|
Choking episodes, Wheezing, Dyspnea, Respiratory distress, Dysphagia, Nonproductive cough, Respir... |
ORPHA:60032 |
| Breath-Holding Spells |
|
Iron deficiency anemia, Cyanosis |
OMIM:607578 |
| Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Cyanosis, Central apnea, EEG abnormality, Abnormal erythrocyte morphology |
ORPHA:71277 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Dyspnea, Microcytic anemia, Neutropenia, Thrombocytopenia, HbH hemoglobin, Splenomegaly, Bruising... |
ORPHA:231401 |
| Hemoglobin H Disease |
|
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly |
OMIM:613978 |
| Carcinoma Of Esophagus |
|
Dysphagia, Cough, Weight loss, Obesity |
ORPHA:70482 |
| Tuberculosis |
|
Cough, Weight loss |
ORPHA:3389 |
| Obesity-Hypoventilation Syndrome |
|
Cyanosis, Hypoventilation, Obesity |
OMIM:257500 |
| Perching Syndrome |
|
Dysphagia, Respiratory distress |
OMIM:617055 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Thrombocytopenia, Abnormal hemoglobin, Anemia, Splenomegaly |
ORPHA:231393 |
| Neuralgic Amyotrophy |
|
Acrocyanosis, Respiratory insufficiency |
ORPHA:2901 |
| Emphysema, Congenital Lobar |
|
Respiratory distress |
OMIM:130710 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Abnormal hemoglobin, Anemia |
ORPHA:3319 |
| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Hypomyelination Neuropathy-Arthrogryposis Syndrome |
|
Respiratory distress |
ORPHA:2680 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Anemia, Persistence of hemoglobin F, Splenomegaly |
ORPHA:46532 |
| Hereditary Pulmonary Alveolar Proteinosis |
|
Restrictive ventilatory defect, Respiratory distress, Cough, Respiratory failure requiring assist... |
ORPHA:264675 |
| Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Sudden episodic apnea, Respiratory distress, Dysphagia, Respiratory insufficiency due to muscle w... |
OMIM:254210 |
| Primary Familial Polycythemia |
|
Dyspnea, Exertional dyspnea, Polycythemia, Cough, Epistaxis, Abnormal hemoglobin |
ORPHA:90042 |
| Benign Familial Neonatal Epilepsy |
|
Focal EEG discharges with secondary generalization, Circumoral cyanosis, Apnea, Increased theta f... |
ORPHA:1949 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
| Alpha-Thalassemia |
|
Hemolytic anemia, Microcytic anemia, Jaundice, Hypersplenism, Splenomegaly, Anemia, Abnormal hemo... |
ORPHA:846 |
| Laryngeal Abductor Paralysis |
|
Dysphagia, Cyanosis, Stridor |
OMIM:150260 |
| Bullous Dystrophy, Hereditary Macular Type |
|
Acrocyanosis |
OMIM:302000 |
| Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Apnea, Dyspnea, Neonatal respiratory distress, Neonatal death, Respiratory failure, Failure to th... |
OMIM:265120 |
| Delta-Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
| Severe Acute Respiratory Syndrome |
|
Dyspnea, Respiratory distress, Cough, Respiratory failure requiring assisted ventilation, Acute i... |
ORPHA:140896 |
| Combined Oxidative Phosphorylation Deficiency 19 |
|
Respiratory distress, Failure to thrive |
OMIM:615595 |
| Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
| Benign Familial Infantile Epilepsy |
|
Apnea, Cyanosis, Normal interictal EEG, Interictal epileptiform activity |
ORPHA:306 |
| Slc35A1-Cdg |
|
Respiratory distress, Neutropenia, Pneumonia, Thrombocytopenia, Subcutaneous hemorrhage, Giant pl... |
ORPHA:238459 |
| Developmental And Epileptic Encephalopathy 30 |
|
Respiratory distress, Hypsarrhythmia |
OMIM:616341 |
| Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Sudden episodic apnea, Respiratory distress, Dysphagia, Respiratory insufficiency due to muscle w... |
OMIM:605809 |
| Gaucher Disease Type 2 |
|
Respiratory distress, Dysphagia, Cough, Splenomegaly, Abnormal pattern of respiration |
ORPHA:77260 |
| Asbestos Intoxication |
|
Restrictive ventilatory defect, Wheezing, Reduced forced vital capacity, Dyspnea, Late inspirator... |
ORPHA:2302 |
| Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Spontaneous pneumothorax, Reduced forced vital capacity, Respiratory distress, Bronchiectasis, In... |
OMIM:610913 |
| Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Apnea, Dyspnea, Respiratory distress, Exertional dyspnea, Cough, Hypoxemia, Neonatal respiratory ... |
OMIM:610921 |
| Acquired Methemoglobinemia |
|
Dyspnea, Respiratory distress, Hypoxemia, Methemoglobinemia, Cyanosis |
ORPHA:464453 |
| Pneumocystosis |
|
Dyspnea, Interstitial pneumonitis, Exertional dyspnea, Pleural effusion, Nonproductive cough, Res... |
ORPHA:723 |
| Laryngeal Neuroendocrine Tumor |
|
Oral-pharyngeal dysphagia, Weight loss, Exertional dyspnea |
ORPHA:100083 |
| Congenital Pulmonary Lymphangiectasia |
|
Chronic pulmonary obstruction, Respiratory distress, Pleural effusion, Cough, Splenomegaly, Pulmo... |
ORPHA:2414 |
| Epilepsy, Pyridoxine-Dependent |
|
Neonatal respiratory distress, Respiratory distress |
OMIM:266100 |
| Sickle Cell Anemia |
|
Iron deficiency anemia, Hypochromic anemia, Thrombocytosis, Hemolytic anemia, Chronic hemolytic a... |
ORPHA:232 |
| Choanal Atresia |
|
Choking episodes, Respiratory distress, Abnormal nasal mucus secretion, Tracheomalacia, Upper air... |
ORPHA:137914 |
| Cryofibrinogenemia, Familial Primary |
|
Acrocyanosis |
OMIM:123540 |
| Combined Oxidative Phosphorylation Defect Type 23 |
|
Abnormal brainstem MRI signal intensity, Respiratory failure, Paroxysmal dyspnea, Failure to thri... |
ORPHA:444013 |
| Mantle Cell Lymphoma |
|
Weight loss, Splenomegaly |
ORPHA:52416 |
| Autoimmune Pulmonary Alveolar Proteinosis |
|
Restrictive ventilatory defect, Dyspnea, Cough, Crackles, Weight loss, Decreased DLCO, Hypoxemia,... |
ORPHA:747 |
| Allergic Bronchopulmonary Aspergillosis |
|
Bronchiectasis, Emphysema, Cough, Weight loss, Respiratory insufficiency, Asthma, Pulmonary arter... |
ORPHA:1164 |
| Pulmonary Alveolar Proteinosis, Acquired |
|
Restrictive ventilatory defect, Dyspnea, Cough, Pneumonia, Decreased DLCO, Hypoxemia, Cyanosis |
OMIM:610910 |
| Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory distress, Ventilator dependence with inability to wean, Dysphagia, Failure to thrive ... |
ORPHA:254875 |
| Infant Acute Respiratory Distress Syndrome |
|
Pneumonia, Atelectasis, Respiratory failure, Nasal flaring, Tachypnea, Hypoxemia, Cyanosis |
ORPHA:70587 |
| Hereditary Methemoglobinemia |
|
Methemoglobinemia, Cyanosis, Small for gestational age, Exertional dyspnea |
ORPHA:621 |
| Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Respiratory distress |
ORPHA:171703 |
| Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Respiratory insufficiency due to muscle weakness, Respiratory distress, Decreased body weight |
OMIM:300580 |
| Ethylmalonic Encephalopathy |
|
Acrocyanosis, Petechiae, Failure to thrive, Abnormal brainstem MRI signal intensity |
ORPHA:51188 |
| Malaria |
|
Thrombocytopenia, Respiratory distress, Anemia |
ORPHA:673 |
| Bardet-Biedl Syndrome 16 |
|
Respiratory distress, Obesity |
OMIM:615993 |
| Diffuse Alveolar Hemorrhage |
|
Restrictive ventilatory defect, Dyspnea, Leukocytosis, Cough, Respiratory failure requiring assis... |
ORPHA:90060 |
| Acute Interstitial Pneumonia |
|
Dyspnea, Bronchiectasis, Pleural effusion, Reduced hematocrit, Nonproductive cough, Crackles, Hyp... |
ORPHA:79126 |
| Idiopathic Bronchiectasis |
|
Wheezing, Dyspnea, Bronchiectasis, Emphysema, Decreased pulmonary function, Acute infectious pneu... |
ORPHA:60033 |
| Chronic Hiccup |
|
Abnormal eating behavior, Weight loss |
ORPHA:396 |
| Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Dyspnea, Respiratory distress, Bronchiectasis, Chronic pulmonary obstruction, Pleural effusion, C... |
ORPHA:411703 |
| Chronic Beryllium Disease |
|
Abnormality on pulmonary function testing, Dyspnea, Abnormal proportion of CD4-positive T cells, ... |
ORPHA:133 |
| Primary Pulmonary Hypoplasia |
|
Abnormal breath sound, Apnea, Restrictive ventilatory defect, Hypoxemia, Neonatal respiratory dis... |
ORPHA:2257 |
| Isaac Syndrome |
|
EEG abnormality, Weight loss |
ORPHA:84142 |
| Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive |
|
Lymphocytic interstitial pneumonia, Respiratory distress, Failure to thrive |
OMIM:245590 |
| Anaplastic Thyroid Carcinoma |
|
Dyspnea, Respiratory distress, Dysphagia, Cough, Weight loss, Upper airway obstruction, Stridor |
ORPHA:142 |
| Cryptosporidiosis |
|
Wheezing, Respiratory distress, Dysphagia, Decreased proportion of CD4-positive helper T cells, C... |
ORPHA:1549 |
| Respiratory Distress Syndrome In Premature Infants |
|
Dyspnea, Respiratory distress, Atelectasis, Neonatal respiratory distress, Tachypnea |
OMIM:267450 |
| Cleft Larynx, Posterior |
|
Cyanosis, Aspiration |
OMIM:215800 |
| Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory failure, Dyspnea, Respiratory distress |
ORPHA:1832 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia, Cyanosis |
OMIM:250790 |
| Staphylococcal Necrotizing Pneumonia |
|
Dyspnea, Respiratory distress, Leukocytosis, Pleural effusion, Cough, Nonproductive cough, Acute ... |
ORPHA:36238 |
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:300448 |
| Hodgkin Lymphoma |
|
Cough, Dyspnea, Weight loss, Splenomegaly |
ORPHA:98293 |
| Galactose Epimerase Deficiency |
|
Jaundice, Weight loss, Splenomegaly |
ORPHA:79238 |
| Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome |
|
Abnormal brainstem MRI signal intensity, Respiratory insufficiency |
ORPHA:263410 |
| Postsynaptic Congenital Myasthenic Syndromes |
|
Restrictive ventilatory defect, Exertional dyspnea, Orthopnea, Respiratory failure, Cyanosis, Red... |
ORPHA:98913 |
| Succinic Acidemia |
|
Respiratory distress |
OMIM:600335 |
| Leukodystrophy, Hypomyelinating, 17 |
|
Respiratory distress, Hypsarrhythmia |
OMIM:618006 |
| Eosinophilic Fasciitis |
|
Acrocyanosis, Abnormal eosinophil morphology, Weight loss, Eosinophilia |
ORPHA:3165 |
| Lennox-Gastaut Syndrome |
|
EEG with focal sharp slow waves, EEG abnormality, Abnormal brainstem morphology |
ORPHA:2382 |
| Beta-Thalassemia |
|
Microcytic anemia, Respiratory insufficiency, Thrombocytopenia, Anemia, Splenomegaly, Abnormal he... |
ORPHA:848 |
| Sepsis In Premature Infants |
|
Abnormal mucociliary clearance, Dyspnea, Purpura, Leukocytosis, Decreased pulmonary function, Neu... |
ORPHA:90051 |
| Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Failure to thrive |
ORPHA:26792 |
| Severe X-Linked Mitochondrial Encephalomyopathy |
|
Respiratory distress, Respiratory insufficiency |
ORPHA:238329 |
| Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Respiratory distress |
OMIM:619099 |
| Holocarboxylase Synthetase Deficiency |
|
Respiratory distress, Weight loss, Thrombocytopenia, Desquamation of skin soon after birth, Tachy... |
ORPHA:79242 |
| Refractory Anemia |
|
Erythroid hypoplasia, Dyspnea, Neutropenia, Normocytic anemia, Thrombocytopenia, Normochromic ane... |
ORPHA:98826 |
| Congenital Disorder Of Glycosylation, Type Iy |
|
Respiratory distress, Failure to thrive |
OMIM:300934 |
| Congenital Disorder Of Glycosylation, Type Ie |
|
Respiratory distress, Pontocerebellar atrophy, EEG abnormality, Failure to thrive, Splenomegaly, ... |
OMIM:608799 |
| Congenital Myasthenic Syndrome |
|
Respiratory arrest, Choking episodes, Episodic respiratory distress, Central sleep apnea, Sudden ... |
ORPHA:590 |
| Presynaptic Congenital Myasthenic Syndromes |
|
Respiratory arrest, Choking episodes, Episodic respiratory distress, Central sleep apnea, Sudden ... |
ORPHA:98914 |
| Joubert Syndrome 7 |
|
Hypoplasia of the brainstem, Brainstem dysplasia, Episodic tachypnea, Central apnea, Tachypnea, M... |
OMIM:611560 |
| Laryngomalacia |
|
Congenital laryngeal stridor, Respiratory distress |
OMIM:150280 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Respiratory distress, Neutropenia, Thrombocytopenia, Splenomegaly, Failure to thrive, Anemia |
ORPHA:79312 |
| Motor Neuropathy, Peripheral, With Dysautonomia |
|
Cyanosis, Decreased nerve conduction velocity |
OMIM:252320 |
| Meconium Aspiration Syndrome |
|
Wheezing, Respiratory distress, Atelectasis, Neonatal asphyxia, Aspiration pneumonia, Pulmonary a... |
ORPHA:70588 |
| Thyroid Lymphoma |
|
Dyspnea, Respiratory distress, Dysphagia, Upper airway obstruction, Stridor |
ORPHA:97285 |
| Hypoadrenocorticism, Familial |
|
Apnea, Cyanosis |
OMIM:240200 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Apnea, Cyanosis, EEG abnormality |
OMIM:261680 |
| Arnold-Chiari Malformation Type Ii |
|
Apnea, Brain stem compression, Inspiratory stridor, Dysphagia, Pneumonia, Aqueductal stenosis, Ab... |
ORPHA:1136 |
| Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Neuromuscular dysphagia, Respiratory distress |
ORPHA:240085 |
| Immunodeficiency 27A |
|
Thrombocytosis, Leukocytosis, Pneumonia, Weight loss, Histiocytosis, Anemia, Splenomegaly, Abnorm... |
OMIM:209950 |
| Familial Nasal Acilia |
|
Dyspnea, Respiratory distress, Bronchiectasis, Atelectasis, Chronic rhinitis, Chronic sinusitis |
ORPHA:922 |
| Buerger Disease |
|
Acrocyanosis |
ORPHA:36258 |
| Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Failure to thrive, Cachexia, Weight loss |
OMIM:612075 |
| Oculopharyngodistal Myopathy |
|
Restrictive ventilatory defect, Respiratory insufficiency due to muscle weakness, Weight loss, Or... |
ORPHA:98897 |
| Mu-Heavy Chain Disease |
|
Abnormal B cell count, Weight loss, Anemia, Splenomegaly |
ORPHA:100024 |
| Acute Lung Injury |
|
Dyspnea, Respiratory distress, Pneumonia, Respiratory failure, Tachypnea, Hypoxemia |
ORPHA:178320 |
| Avian Influenza |
|
Dyspnea, Respiratory distress, Pleural effusion, Lymphopenia, Cough, Nonproductive cough, Pneumon... |
ORPHA:454836 |
| Stt3B-Cdg |
|
Thrombocytopenia, Respiratory distress, Failure to thrive |
ORPHA:370924 |
| Spinocerebellar Ataxia Type 1 |
|
Abnormal nerve conduction velocity, Dysphagia, Respiratory failure, Abnormal brainstem morphology... |
ORPHA:98755 |
| Pulmonary Arteriovenous Malformation |
|
Iron deficiency anemia, Dyspnea, Cough, Hemothorax, Hypoxemia, Epistaxis, Pleural empyema, Pulmon... |
ORPHA:2038 |
| Congenital Lobar Emphysema |
|
Emphysema, Respiratory distress |
ORPHA:1928 |
| N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress, Failure to thrive |
OMIM:237310 |
| Congenital Diaphragmatic Hernia |
|
Hypoxemia, Respiratory distress |
ORPHA:2140 |
| Multicentric Reticulohistiocytosis |
|
Histiocytosis, Cachexia |
ORPHA:139436 |
| Acute Promyelocytic Leukemia |
|
Purpura, Leukocytosis, Exertional dyspnea, Neutropenia, Weight loss, Epistaxis, Pancytopenia, Thr... |
ORPHA:520 |
| X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Dysphagia, Apneic episodes in infancy, Episodic tachypnea, Abnormal brainstem morphology |
ORPHA:163961 |
| Reticular Dysgenesis |
|
Abnormality of neutrophils, Weight loss, Failure to thrive, Anemia, Leukopenia |
ORPHA:33355 |
| Mitochondrial Phosphate Carrier Deficiency |
|
Cyanosis, Respiratory insufficiency |
OMIM:610773 |
| Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
EEG with focal sharp waves, Cyanotic episode, Failure to thrive in infancy, EEG with polyspike wa... |
ORPHA:284417 |
| Encephalopathy, Ethylmalonic |
|
Acrocyanosis, Petechiae, Failure to thrive |
OMIM:602473 |
| Gómez-López-Hernández Syndrome |
|
Abnormal brainstem morphology |
ORPHA:1532 |
| Diamond-Blackfan Anemia 6 |
|
Persistence of hemoglobin F, Tracheomalacia, Failure to thrive, Increased mean corpuscular volume... |
OMIM:612561 |
| Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Abnormal brainstem morphology, Failure to thrive |
ORPHA:255182 |
| Idiopathic Neonatal Atrial Flutter |
|
Tachypnea, Large for gestational age, Respiratory distress |
ORPHA:45452 |
| Pontocerebellar Hypoplasia Type 10 |
|
Abnormal brainstem morphology |
ORPHA:411493 |
| Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Restrictive ventilatory defect, Wheezing, Respiratory distress, Oxygen desaturation on exertion, ... |
OMIM:610978 |
| Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Slender build, Cachexia, Weight loss |
OMIM:613662 |
| Pulmonary Capillary Hemangiomatosis |
|
Dyspnea, Elevated pulmonary artery pressure, Exertional dyspnea, Pleural effusion, Hemothorax, Hy... |
ORPHA:199241 |
| Peripheral Motor Neuropathy-Dysautonomia Syndrome |
|
Acrocyanosis |
ORPHA:2400 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Respiratory distress |
OMIM:604377 |
| Tricuspid Atresia |
|
Cyanosis |
ORPHA:1209 |
| Undifferentiated Pleomorphic Sarcoma |
|
Weight loss |
ORPHA:2023 |
| Chiari Malformation Type Ii |
|
Dysphagia, Inspiratory stridor, Cyanosis |
OMIM:207950 |
| Dominant Beta-Thalassemia |
|
Hypochromic microcytic anemia, Dyspnea, Decreased mean corpuscular hemoglobin concentration, Pers... |
ORPHA:231226 |
| Diamond-Blackfan Anemia 3 |
|
Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F, Reticulocytopenia |
OMIM:610629 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Thrombocytopenia, Neutropenia, Anemia, Respiratory distress |
ORPHA:289916 |
| Congenital Disorder Of Glycosylation, Type Ix |
|
Thrombocytopenia, Respiratory distress, Failure to thrive |
OMIM:615597 |
| Beta-Thalassemia Major |
|
Hypochromic microcytic anemia, Dyspnea, Decreased mean corpuscular hemoglobin concentration, Pers... |
ORPHA:231214 |
| Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Ventilator dependence with inability to wean, Respiratory failure requiring assisted ventilation,... |
ORPHA:254864 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1 |
|
Myeloid leukemia, Dyspnea, Premature graying of hair, Cough, Crackles, Decreased DLCO, Pancytopen... |
OMIM:614742 |
| Huntington Disease-Like 2 |
|
Weight loss |
ORPHA:98934 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Dysphagia, Respiratory distress |
ORPHA:240103 |
| Myasthenia Gravis |
|
Acrocyanosis, Pure red cell aplasia, Hemolytic anemia, Dyspnea, Dysphagia |
ORPHA:589 |
| Joubert Syndrome 33 |
|
Apnea, Molar tooth sign on MRI |
OMIM:617767 |
| Hereditary Central Diabetes Insipidus |
|
Polydipsia, Weight loss |
ORPHA:30925 |
| Rhabdoid Tumor |
|
Thrombocytopenia, Weight loss, Anemia, Respiratory insufficiency |
ORPHA:69077 |
| Shwachman-Diamond Syndrome 1 |
|
Respiratory distress, Persistence of hemoglobin F, Neutropenia, Pancytopenia, Thrombocytopenia, A... |
OMIM:260400 |
| Acute Monoblastic/Monocytic Leukemia |
|
Lymphocytosis, Hypochromic anemia, Acute monocytic leukemia, Exertional dyspnea, Leukocytosis, We... |
ORPHA:514 |
| Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Dysphagia, Weight loss |
ORPHA:2198 |
| Oromandibular Dystonia |
|
Dysphagia, Respiratory distress, Weight loss |
ORPHA:93958 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Acrocyanosis, Purpura, Dysphagia, Cough, Weight loss, Respiratory insufficiency, Cutis marmorata,... |
ORPHA:183 |
| Tularemia |
|
Respiratory distress, Leukocytosis, Pleural effusion, Cough, Pneumonia, Thrombocytopenia, Anemia |
ORPHA:3392 |
| Eosinophilic Gastroenteritis |
|
Allergic rhinitis, Leukocytosis, Dysphagia, Weight loss, Asthma, Anemia, Eosinophilia |
ORPHA:2070 |
| Coenzyme Q10 Deficiency, Primary, 8 |
|
Small for gestational age, Respiratory distress |
OMIM:616733 |
| Laryngeal Web, Familial |
|
Stridor, Respiratory distress |
OMIM:150360 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Leukocytosis, Bruising susceptibility, Weight loss, Thrombocytopenia, Abnormal neutrophil count, ... |
ORPHA:3226 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Microangiopathic hemolytic anemia, Respiratory distress, Reticulocytosis, Thrombocytopenia, Jaund... |
OMIM:274150 |
| Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Bruising susceptibility, HbH hemoglobin, Failure to thrive, Microcytic anemia |
ORPHA:98791 |
| Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Lymphopenia, Recurrent sinusitis, Neutropenia, Anemia, Increased mea... |
OMIM:618849 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Respiratory distress, Failure to thrive |
OMIM:618426 |
| Congenital Tricuspid Valve Dysplasia |
|
Respiratory failure requiring assisted ventilation, Small for gestational age, Respiratory failur... |
ORPHA:555874 |
| Marburg Hemorrhagic Fever |
|
Cough, Weight loss, Thrombocytopenia, Jaundice, Leukopenia |
ORPHA:99826 |
| Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
| Beta-Thalassemia Intermedia |
|
Persistence of hemoglobin F, Leukocytosis, Extramedullary hematopoiesis, Erythroid hyperplasia, J... |
ORPHA:231222 |
| Leishmaniasis |
|
Abnormal macrophage morphology, Weight loss, Pancytopenia, Thrombocytopenia, Splenomegaly, Rhinit... |
ORPHA:507 |
| Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Interictal EEG abnormality, Respiratory distress, EEG with focal epileptiform discharges, EEG wit... |
ORPHA:544503 |
| Achondroplasia |
|
Upper airway obstruction, Brain stem compression |
OMIM:100800 |
| Congenital Laryngeal Web |
|
Stridor, Respiratory distress |
ORPHA:2374 |
| Mitochondrial Pyruvate Carrier Deficiency |
|
Respiratory distress |
OMIM:614741 |
| Dravet Syndrome |
|
EEG with focal epileptiform discharges, Interictal epileptiform activity, Multifocal epileptiform... |
ORPHA:33069 |
| Primary Myelofibrosis |
|
Ecchymosis, Thrombocytosis, Purpura, Leukocytosis, Extramedullary hematopoiesis, Pancytopenia, Th... |
ORPHA:824 |
| Evans Syndrome |
|
Dyspnea, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Epistaxis, Neutropenia in pres... |
ORPHA:1959 |
| Gaucher Disease, Perinatal Lethal |
|
Apnea, Respiratory distress, Purpura, Dysphagia, Decreased body weight, Thrombocytopenia, Desquam... |
OMIM:608013 |
| Hb Bart'S Hydrops Fetalis |
|
Abnormal hemoglobin, Anemia, Splenomegaly |
ORPHA:163596 |
| Leigh Syndrome With Cardiomyopathy |
|
Apnea, Respiratory distress, Dysphagia, Central hypoventilation, Abnormal brainstem morphology, R... |
ORPHA:70474 |
| Complete Atrioventricular Septal Defect |
|
Wheezing, Elevated pulmonary artery pressure, Crackles, Pulmonary venous hypertension, Intercosta... |
ORPHA:1329 |
| Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Respiratory distress, Failure to thrive |
ORPHA:261304 |
| Primary Dystonia, Dyt4 Type |
|
Dysphagia, Eunuchoid habitus, Respiratory distress |
ORPHA:98805 |
| Myopathy And Diabetes Mellitus |
|
Respiratory distress |
ORPHA:2596 |
| Thymic Carcinoma |
|
Cough, Dyspnea, Weight loss |
ORPHA:99868 |
| Hypoglossia With Situs Inversus |
|
Upper airway obstruction, Polysplenia, Asplenia, Respiratory distress |
OMIM:612776 |
| Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Weight loss, Splenomegaly |
ORPHA:86893 |
| Brown-Vialetto-Van Laere Syndrome 1 |
|
Dyspnea, Respiratory distress, Dysphagia, Respiratory insufficiency, Stridor, Nocturnal hypoventi... |
OMIM:211530 |
| Lethal Recessive Chondrodysplasia |
|
Respiratory distress |
ORPHA:1423 |
| Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Cachexia |
ORPHA:1216 |
| Mast Cell Sarcoma |
|
Mastocytosis, Weight loss, Splenomegaly |
ORPHA:66661 |
| 20Q11.2 Microdeletion Syndrome |
|
Brainstem dysplasia |
ORPHA:444051 |
| Erythrokeratodermia Variabilis |
|
Cutaneous photosensitivity, Weight loss, Erythema |
ORPHA:317 |
| Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Dysphagia... |
ORPHA:298 |
| Insulin Autoimmune Syndrome |
|
Weight loss |
ORPHA:411593 |
| Follicular Lymphoma |
|
Pleural effusion, Weight loss, Splenomegaly |
ORPHA:545 |
| Methylmalonic Aciduria, Cblb Type |
|
Respiratory distress, Neutropenia, Pancytopenia, Thrombocytopenia, Failure to thrive, Anemia |
OMIM:251110 |
| Aggressive Systemic Mastocytosis |
|
Increased proportion of CD25+ mast cells, Leukocytosis, Flushing, Neutropenia, Weight loss, Pancy... |
ORPHA:98850 |
| Riboflavin Transporter Deficiency |
|
Dysphagia, Sleep apnea, Cachexia, Respiratory insufficiency |
ORPHA:97229 |
| Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Acrocyanosis, Failure to thrive |
OMIM:614407 |
| Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
| Alpha-Thalassemia |
|
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:604131 |
| Wilson Disease |
|
Weight loss, Thrombocytopenia, Jaundice, Increased body weight, Anemia, Splenomegaly, Failure to ... |
ORPHA:905 |
| Poems Syndrome |
|
Acrocyanosis, Restrictive ventilatory defect, Thrombocytosis, Pleural effusion, Polycythemia, Wei... |
ORPHA:2905 |
| Bronchial Neuroendocrine Tumor |
|
Wheezing, Dyspnea, Bronchospasm, Nonproductive cough, Dermatological manifestations of systemic d... |
ORPHA:97287 |
| Waardenburg Syndrome Type 3 |
|
Acrocyanosis, Tracheomalacia, Atelectasis |
ORPHA:896 |
| Congenital Disorder Of Glycosylation, Type Iu |
|
Neonatal respiratory distress, Respiratory distress |
OMIM:615042 |
| Mulibrey Nanism |
|
Cachexia |
ORPHA:2576 |
| Bone Dysplasia, Lethal Holmgren Type |
|
Failure to thrive, Weight loss, Anemia, Respiratory insufficiency |
ORPHA:1842 |
| Lissencephaly Syndrome, Norman-Roberts Type |
|
Dysphagia, Hypoplastic spleen, Respiratory distress |
ORPHA:89844 |
| Perry Syndrome |
|
Central hypoventilation, Weight loss |
ORPHA:178509 |
| Central Diabetes Insipidus |
|
Failure to thrive, Polydipsia, Weight loss |
ORPHA:178029 |
| Methylmalonic Aciduria, Cbla Type |
|
Respiratory distress, Neutropenia, Pancytopenia, Thrombocytopenia, Failure to thrive, Anemia |
OMIM:251100 |
| Hsd10 Disease, Infantile Type |
|
Dysphagia, Cyanosis |
ORPHA:391428 |
| Ciliary Dyskinesia, Primary, 2 |
|
Respiratory distress, Bronchiectasis, Ciliary dyskinesia, Immotile cilia, Sinusitis |
OMIM:606763 |
| Double Outlet Right Ventricle |
|
Tachypnea, Cyanosis, Failure to thrive |
ORPHA:3426 |
| Toxic Epidermal Necrolysis |
|
Restrictive ventilatory defect, Respiratory distress, Dysphagia, Cough, Neutropenia, Weight loss,... |
ORPHA:537 |
| Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Cough, Dyspnea, Respiratory distress |
ORPHA:86812 |
| Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Cachexia, Respiratory insufficiency |
ORPHA:157973 |
| Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Prolonged neonatal jaundice, Large for gestational age, Respiratory distress |
ORPHA:226313 |
| Graves Disease, Susceptibility To, 1 |
|
Polyphagia, Weight loss |
OMIM:275000 |
| Esophageal Atresia |
|
Restrictive ventilatory defect, Episodic respiratory distress, Chronic pulmonary obstruction, Res... |
ORPHA:1199 |
| Takayasu Arteritis |
|
Pulmonary arterial hypertension, Weight loss, Anemia, Abnormal pattern of respiration |
ORPHA:3287 |
| Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Cachexia |
ORPHA:1144 |
| Nipah Virus Disease |
|
Cough, Respiratory distress |
ORPHA:99825 |
| Diencephalic Syndrome |
|
Cachexia, Decreased body weight |
ORPHA:1672 |
| Tetrasomy 5P |
|
Pulmonary arterial hypertension, Cyanosis, Respiratory distress, Failure to thrive |
ORPHA:3309 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Respiratory distress, Exertional dyspnea, Respiratory insufficiency due to muscle weakness, Failu... |
OMIM:220110 |
| Microlissencephaly-Micromelia Syndrome |
|
EEG abnormality, Respiratory distress, Failure to thrive |
ORPHA:50810 |
| Classic Hodgkin Lymphoma |
|
Cough, Respiratory insufficiency, Weight loss, Splenomegaly |
ORPHA:391 |
| Majeed Syndrome |
|
Hypochromic microcytic anemia, Leukocytosis, Congenital hypoplastic anemia, Cough, Weight loss, C... |
ORPHA:77297 |
| Developmental And Epileptic Encephalopathy 68 |
|
Respiratory distress, Failure to thrive |
OMIM:618201 |
| Joubert Syndrome 2 |
|
Thickened superior cerebellar peduncle, Hypoplasia of the brainstem, Brainstem dysplasia, Episodi... |
OMIM:608091 |
| Atrial Septal Defect, Ostium Primum Type |
|
Dyspnea, Exertional dyspnea, Decreased pulmonary function, Failure to thrive, Pulmonary arterial ... |
ORPHA:99106 |
| Pseudomyxoma Peritonei |
|
Weight loss, Respiratory insufficiency |
ORPHA:26790 |
| Huntington Disease |
|
Choking episodes, Decreased body mass index, Polyphagia, Weight loss, Oral-pharyngeal dysphagia |
ORPHA:399 |
| Malignant Peritoneal Mesothelioma |
|
Dyspnea, Weight loss |
ORPHA:168811 |
| Moebius Syndrome |
|
Dysphagia, Hypoplasia of the brainstem, Respiratory distress |
OMIM:157900 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Abnormal brainstem morphology, Telangiectasia, Telangiectasia of the skin |
ORPHA:79279 |
| Congenital Fibrinogen Deficiency |
|
Cyanosis, Subcutaneous hemorrhage, Bruising susceptibility, Splenic rupture |
ORPHA:335 |
| Neurogenic Arthrogryposis Multiplex Congenita |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness |
ORPHA:1143 |
| Aicardi-Goutieres Syndrome 1 |
|
Acrocyanosis, Purpura, Thrombocytopenia, Prolonged neonatal jaundice, Petechiae, Splenomegaly, He... |
OMIM:225750 |
| Huntington Disease-Like 2 |
|
Weight loss |
OMIM:606438 |
| Septopreoptic Holoprosencephaly |
|
Dysphagia, Hypoplasia of the pons, Abnormal midbrain morphology |
ORPHA:280195 |
| Fatal Familial Insomnia |
|
Dysphagia, Apnea, Weight loss |
OMIM:600072 |
| Bullous Pemphigoid |
|
Urticaria, Weight loss, Erythema |
ORPHA:703 |
| Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Dyspnea, Respiratory failure, Respiratory distress |
ORPHA:2759 |
| Acquired Central Diabetes Insipidus |
|
Polydipsia, Weight loss |
ORPHA:95626 |
| Japanese Encephalitis |
|
Decreased motor nerve conduction velocity, Respiratory distress, Irregular respiration, Abnormal ... |
ORPHA:79139 |
| Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Dysphagia, Cyanosis, Failure to thrive in infancy |
ORPHA:488627 |
| Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Apnea, Hypoventilation, Respiratory distress, Aspiration pneumonia, EEG abnormality, Recurrent pn... |
ORPHA:314655 |
| Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Granulocytopenia, Respiratory distress, Macrocytic anemia |
OMIM:606164 |
| Congenital Enterovirus Infection |
|
Respiratory distress, Leukocytosis, Abnormal macrophage morphology, Pleural effusion, Neutropenia... |
ORPHA:292 |
| Spinocerebellar Ataxia 48 |
|
Dysphagia, Cachexia |
OMIM:618093 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Myeloid leukemia, Leukocytosis, Urticaria, Chronic lymphatic leukemia, Flushing, Weight loss, Nor... |
ORPHA:98849 |
| Moynahan Syndrome |
|
Cachexia |
ORPHA:2574 |
| Idiopathic Hypereosinophilic Syndrome |
|
Vasculitis in the skin, Cough, Pulmonary embolism, Cutis marmorata, Anemia, Neutrophilia, Eosinop... |
ORPHA:3260 |
| Acquired Purpura Fulminans |
|
Thrombocytopenia, Macular purpura, Acrocyanosis |
ORPHA:49566 |
| Drug Rash With Eosinophilia And Systemic Symptoms |
|
Lymphocytosis, Dyspnea, Interstitial pneumonitis, Cough, Weight loss, Erythema, Angioedema, Eosin... |
ORPHA:139402 |
| Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Dysphagia, Cough, Aspiration pneumonia, Weight loss |
ORPHA:216866 |
| Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Respiratory distress, Generalized abnormality of skin, Respiratory insufficiency, Failure to thri... |
ORPHA:367 |
| Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Severe failure to thrive, Cyanosis |
ORPHA:3304 |
| X-Linked Agammaglobulinemia |
|
Recurrent pneumonia, Neutropenia, Weight loss, Thrombocytopenia, Sinusitis, Failure to thrive, An... |
ORPHA:47 |
| Multiple Carboxylase Deficiency |
|
Tachypnea, Respiratory distress |
ORPHA:148 |
| Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
EEG with burst suppression, Respiratory distress, Failure to thrive |
ORPHA:329178 |
| Myotonic Dystrophy 1 |
|
Dysphagia, Respiratory distress |
OMIM:160900 |
| Lymphatic Malformation 7 |
|
Respiratory distress, Anemia |
OMIM:617300 |
| Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Respiratory distress, Respiratory insufficiency |
ORPHA:1145 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Cyanosis, Sudden episodic apnea, Respiratory insufficiency |
ORPHA:159 |
| Criss-Cross Heart |
|
Cyanosis, Respiratory insufficiency |
ORPHA:1461 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Overweight, Respiratory distress, Episodic tachypnea, Pneumonia, Jaundice, Small for gestational ... |
ORPHA:26793 |
| Autosomal Dominant Epidermolytic Ichthyosis |
|
Cutaneous photosensitivity, Weight loss |
ORPHA:312 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Dyspnea, Exertional dyspnea, Increased pulmonary vascular resistance, Orthopnea, Pneumonia, Breat... |
ORPHA:99103 |
| Goodpasture Syndrome |
|
Restrictive ventilatory defect, Exertional dyspnea, Cough, Crackles, Weight loss, Increased DLCO,... |
OMIM:233450 |
| Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress, Failure to thrive |
ORPHA:927 |
| Oculocerebrofacial Syndrome, Kaufman Type |
|
Dyspnea, Respiratory failure, Respiratory distress, Failure to thrive |
ORPHA:2707 |
| Synaptic Congenital Myasthenic Syndromes |
|
Sleep apnea, Hypoventilation, Respiratory distress, Exertional dyspnea, Dysphagia, Respiratory in... |
ORPHA:98915 |
| Amoebiasis Due To Entamoeba Histolytica |
|
Dyspnea, Leukocytosis, Pleural effusion, Cough, Weight loss, Pleural empyema, Anemia |
ORPHA:67 |
| Perry Syndrome |
|
Hypoventilation, Central hypoventilation, Weight loss, Respiratory insufficiency, Respiratory arrest |
OMIM:168605 |
| Systemic Capillary Leak Syndrome |
|
Cardiorespiratory arrest, Leukocytosis, Pleural effusion, Cough, Weight loss, Rhinorrhea |
ORPHA:188 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Apnea, Thrombocytosis, Hypsarrhythmia, Leukocytosis, Weight loss, Jaundice, EEG abnormality, Anem... |
ORPHA:20 |
| Hereditary Angioedema Type 1 |
|
Dyspnea, Respiratory distress, Inspiratory stridor, Dysphagia, Urticaria, Dermatographic urticaria |
ORPHA:100050 |
| Diaphanospondylodysostosis |
|
Respiratory distress |
ORPHA:66637 |
| Tetanus |
|
Dysphagia, Tachypnea, Respiratory distress |
ORPHA:3299 |
| Infantile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Respiratory distress, Respiratory failure, Cachex... |
ORPHA:206436 |
| Felty Syndrome |
|
Recurrent pneumonia, Abnormal lymphocyte morphology, Neutropenia, Weight loss, Thrombocytopenia, ... |
ORPHA:47612 |
| Polymicrogyria Due To Tubb2B Mutation |
|
Abnormal brainstem morphology, Hypoplasia of the pons |
ORPHA:300573 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hypoventilation, Cardiorespiratory arrest, Polyphagia, Abnormal midbrain morphology, Central hypo... |
ORPHA:293987 |
| Familial Acute Necrotizing Encephalopathy |
|
Abnormal brainstem MRI signal intensity, Abnormal brainstem morphology, Abnormal pattern of respi... |
ORPHA:88619 |
| Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
|
Elongated superior cerebellar peduncle, Abnormal brainstem morphology |
ORPHA:370022 |
| Kasabach-Merritt Syndrome |
|
Microangiopathic hemolytic anemia, Respiratory distress, Purpura, Reticulocytosis, Hypopnea, Neut... |
ORPHA:2330 |
| Hyperimmunoglobulinemia D With Periodic Fever |
|
Acrocyanosis, Purpura, Urticaria, Erythema |
ORPHA:343 |
| Hereditary Bullous Dystrophy, Macular Type |
|
Acrocyanosis, Pneumonia |
ORPHA:1867 |
| Diamond-Blackfan Anemia 10 |
|
Reticulocytopenia, Respiratory distress, Anemia, Macrocytic anemia |
OMIM:613309 |
| Brain-Lung-Thyroid Syndrome |
|
Abnormal drinking behavior, Respiratory distress, Abnormal eating behavior, Neonatal respiratory ... |
ORPHA:209905 |
| Refractory Celiac Disease |
|
Iron deficiency anemia, Microcytic anemia, Increased proportion of HLA DR+ T cells, Normocytic an... |
ORPHA:398063 |
| Al Amyloidosis |
|
Dyspnea, Dysphagia, Nonproductive cough, Bruising susceptibility, Weight loss, Anemia, Howell-Jol... |
ORPHA:85443 |
| Unilateral Polymicrogyria |
|
Pseudobulbar paralysis, Apnea, Epistaxis, Giant somatosensory evoked potentials, Cyanosis |
ORPHA:268943 |
| Fucosidosis |
|
Acrocyanosis, Vascular skin abnormality, Failure to thrive |
ORPHA:349 |
| Pfapa Syndrome |
|
Weight loss, Splenomegaly |
ORPHA:42642 |
| Stevens-Johnson Syndrome |
|
Restrictive ventilatory defect, Dyspnea, Abnormality of neutrophils, Dysphagia, Cough, Weight los... |
ORPHA:36426 |
| Laryngotracheoesophageal Cleft Type 4 |
|
Abnormality of the spleen, Cachexia, Respiratory insufficiency |
ORPHA:93941 |
| Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Pulmonary arterial hypertension, Respiratory distress, Failure to thrive |
OMIM:619272 |
| Juvenile Huntington Disease |
|
Weight loss |
ORPHA:248111 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Iron deficiency anemia, Reduced proportion of CD4-negative, CD8-negative, alpha-beta regulatory T... |
ORPHA:37042 |
| Christianson Syndrome |
|
Dysphagia, Cachexia |
ORPHA:85278 |
| Q Fever |
|
Respiratory distress, Purpura, Pleural effusion, Cough, Pneumonia, Weight loss, Thrombocytopenia,... |
ORPHA:781 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Respiratory distress, Polysplenia, Asplenia, Failure to thrive, Cyanosis |
OMIM:306955 |
| Adult Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Abnormal midbrain morphology, EEG abnormality, Ab... |
ORPHA:206448 |
| Castleman Disease |
|
Dyspnea, Cough, Weight loss, Thrombocytopenia, Jaundice, Anemia, Decreased mean corpuscular volume |
ORPHA:160 |
| Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Reduced subcutaneous adipose tissue, Cachexia, Weight loss, Premature graying of hair |
ORPHA:1979 |
| Desmoplastic Small Round Cell Tumor |
|
Weight loss, Cachexia, Anemia |
ORPHA:83469 |
| Huntington Disease-Like 1 |
|
EEG abnormality, Weight loss |
ORPHA:157941 |
| Hyperparathyroidism, Transient Neonatal |
|
Respiratory distress |
OMIM:618188 |
| Atrial Septal Defect, Coronary Sinus Type |
|
Dyspnea, Exertional dyspnea, Increased pulmonary vascular resistance, Pneumonia, Pulmonary arteri... |
ORPHA:99104 |
| Chitayat Syndrome |
|
Respiratory distress, Tracheomalacia |
OMIM:617180 |
| Benign Recurrent Intrahepatic Cholestasis |
|
Jaundice, Weight loss |
ORPHA:65682 |
| Lead Poisoning |
|
Decreased pulmonary function, Abnormal T cell morphology, Imbalanced hemoglobin synthesis, Small ... |
ORPHA:330015 |
| Xfe Progeroid Syndrome |
|
Prematurely aged appearance, Cachexia |
OMIM:610965 |
| Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Respiratory distress |
OMIM:617102 |
| Rift Valley Fever |
|
Jaundice, Bruising susceptibility, Weight loss, Purpura |
ORPHA:319251 |
| Odontochondrodysplasia |
|
Respiratory distress |
ORPHA:166272 |
| Beta-Ketothiolase Deficiency |
|
Thrombocytosis, Oral aversion, Leukocytosis, Cough, Weight loss, Tachypnea |
ORPHA:134 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Dyspnea, Respiratory distress, Episodic tachypnea, Apneic episodes in infancy, Intermittent hyper... |
ORPHA:348 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Jaundice, Neonatal death, Respiratory distress |
OMIM:231680 |
| Polyarteritis Nodosa |
|
Cutis marmorata, Weight loss, Erythema |
ORPHA:767 |
| Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related |
|
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Obesity |
OMIM:141750 |
| Agnathia-Otocephaly Complex |
|
Respiratory distress, Tracheomalacia |
OMIM:202650 |
| Wolman Disease |
|
Bone-marrow foam cells, Cachexia, Anemia, Splenomegaly |
ORPHA:75233 |
| Juvenile Dermatomyositis |
|
Restrictive ventilatory defect, Dyspnea, Dysphagia, Cough, Weight loss, Telangiectasia of the ski... |
ORPHA:93672 |
| Rett Syndrome |
|
Intermittent hyperventilation, EEG abnormality, Cachexia, Apnea |
OMIM:312750 |
| Joubert Syndrome 8 |
|
Prolonged neonatal jaundice, Molar tooth sign on MRI, Hyperventilation, Obesity |
OMIM:612291 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Recurrent pneumonia, Respiratory distress, Neutropenia, Thrombocytopenia, Splenomegaly, Anemia, L... |
OMIM:617303 |
| Ethylene Glycol Poisoning |
|
Tachypnea, Cyanosis, Episodic respiratory distress, Abnormal pattern of respiration |
ORPHA:31826 |
| Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Restrictive ventilatory defect, Dyspnea, Nail bed telangiectasia, Li... |
OMIM:187300 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Hypoplasia of the brainstem, Olivopontocerebellar hypoplasia, Abnormal brainstem morphology, Hypo... |
ORPHA:370959 |
| Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy |
|
EEG with focal spike waves, Abnormal pons morphology, Abnormal brainstem morphology |
ORPHA:370997 |
| Mercury Poisoning |
|
Dyspnea, Respiratory failure, Respiratory distress, Interstitial pneumonitis |
ORPHA:330021 |
| Focal Myositis |
|
Weight loss |
ORPHA:48918 |
| Farber Disease |
|
Respiratory distress, Respiratory insufficiency, Atelectasis, Thrombocytopenia, Failure to thrive... |
ORPHA:333 |
| Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis |
|
Neutrophilia, Respiratory distress, Failure to thrive in infancy, Splenomegaly |
OMIM:612852 |
| Spinocerebellar Ataxia, X-Linked 3 |
|
Episodic hypoventilation, Dysphagia, Episodic respiratory distress |
OMIM:301790 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory failure, Respiratory distress |
OMIM:617895 |
| Hirschsprung Disease |
|
Weight loss, Failure to thrive in infancy |
ORPHA:388 |
| Polycythemia Vera |
|
Epistaxis, Respiratory insufficiency, Weight loss, Pulmonary embolism, Splenomegaly, Bruising sus... |
ORPHA:729 |
| Oculopharyngodistal Myopathy 1 |
|
Restrictive ventilatory defect, Hypercapnia, Dysphagia, Respiratory insufficiency due to muscle w... |
OMIM:164310 |
| Attrv30M Amyloidosis |
|
Weight loss |
ORPHA:85447 |
| Inflammatory Pseudotumor Of The Liver |
|
Weight loss |
ORPHA:90003 |
| Episodic Ataxia Type 1 |
|
Respiratory distress |
ORPHA:37612 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Cough, Wheezing, Weight loss, Failure to thrive in infancy |
ORPHA:171876 |
| Blackfan-Diamond Anemia |
|
Elevated red cell adenosine deaminase level, Erythroid hypoplasia, Pure red cell aplasia, Thrombo... |
ORPHA:124 |
| Nephropathy With Pretibial Epidermolysis Bullosa And Deafness |
|
Reduced beta/alpha synthesis ratio |
OMIM:609057 |
| Hypercalcemia, Infantile, 1 |
|
Failure to thrive, Weight loss |
OMIM:143880 |
| Pemphigus Vulgaris |
|
Urticaria, Weight loss |
ORPHA:704 |
| Tarp Syndrome |
|
Apnea, Extramedullary hematopoiesis, Cyanosis, Failure to thrive |
ORPHA:2886 |
| Thymic Neuroendocrine Tumor |
|
Abnormal breath sound, Cough, Prominent veins on trunk, Weight loss |
ORPHA:97289 |
| Congenital Disorder Of Deglycosylation |
|
Central sleep apnea, Decreased sensory nerve conduction velocity, Respiratory distress, Decreased... |
OMIM:615273 |
| Alternating Hemiplegia Of Childhood |
|
Apnea, Respiratory distress, Dysphagia, Flushing, Oral-pharyngeal dysphagia, Failure to thrive, A... |
ORPHA:2131 |
| Rodrigues Blindness |
|
Ectodermal dysplasia, Nasal flaring |
OMIM:268320 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory insufficien... |
ORPHA:308552 |
| Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Neutrophilia, Weight loss, Anemia |
ORPHA:54251 |
| Flynn-Aird Syndrome |
|
EEG abnormality, Cachexia |
ORPHA:2047 |
| Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Dyspnea, Nail bed telangiectasia, Lip telangiectasia, Fingerpad tela... |
OMIM:600376 |
| Mcdonough Syndrome |
|
Cachexia |
ORPHA:2471 |
| Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Abnormal brainstem MRI signal intensity, Hypoventilation, Dysphagia, Pontocerebellar atrophy, Dec... |
ORPHA:258 |
| Congenital Tracheal Stenosis |
|
Wheezing, Dyspnea, Respiratory distress, Upper airway obstruction, Neonatal asphyxia, Cyanosis |
ORPHA:141127 |
| Atrioventricular Septal Defect 3 |
|
Pulmonary arterial hypertension, Cyanosis |
OMIM:600309 |
| Inflammatory Bowel Disease 11 |
|
Weight loss |
OMIM:191390 |
| Non-Functioning Paraganglioma |
|
Flushing, Weight loss |
ORPHA:94080 |
| Inhalational Anthrax |
|
Dyspnea, Respiratory distress |
ORPHA:247257 |
| Odontochondrodysplasia 1 |
|
Respiratory distress |
OMIM:184260 |
| Bacterial Toxic-Shock Syndrome |
|
Respiratory distress, Pneumonia, Increased circulating metamyelocyte count, Thrombocytopenia, Inc... |
ORPHA:36234 |
| Medullary Thyroid Carcinoma |
|
Dysphagia, Weight loss |
ORPHA:1332 |
| Joubert Syndrome 1 |
|
Hypoplasia of the brainstem, Brainstem dysplasia, Episodic tachypnea, Central apnea, Elongated su... |
OMIM:213300 |
| Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Cachexia, Decreased nerve conduction velocity |
ORPHA:1933 |
| Peripheral Primitive Neuroectodermal Tumor |
|
Abnormal superior cerebellar peduncle morphology, Jaundice, Weight loss, Anemia |
ORPHA:370348 |
| Polymyositis |
|
Cough, Respiratory insufficiency, Weight loss, Exertional dyspnea |
ORPHA:732 |
| Primary Hepatic Neuroendocrine Carcinoma |
|
Dyspnea, Bronchospasm, Weight loss, Intermittent jaundice, Facial telangiectasia |
ORPHA:100085 |
| Neuromuscular Oculoauditory Syndrome |
|
Decreased amplitude of sensory action potentials, Aspiration, Respiratory distress, Decreased ner... |
OMIM:618733 |
| Kaposi Sarcoma |
|
Abnormality of the spleen, Weight loss |
ORPHA:33276 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Sleep apnea, Respiratory distress, Exertional dyspnea, Dysphagia, Orthopnea, Respiratory insuffic... |
ORPHA:365 |
| Slc35A2-Cdg |
|
EEG with focal epileptiform discharges, Abnormal midbrain morphology, Hypsarrhythmia, Failure to ... |
ORPHA:356961 |
| Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Abnormality of neutrophils, Hypochromic anemia, Abnormal brainstem morphology |
ORPHA:2720 |
| Cronkhite-Canada Syndrome |
|
Cachexia, Anemia, Splenomegaly |
ORPHA:2930 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Apnea, Respiratory failure, Respiratory distress, Respiratory insufficiency |
OMIM:608836 |
| Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Weight loss |
OMIM:266600 |
| Campomelic Dysplasia |
|
Apnea, Tracheobronchomalacia, Respiratory distress, Failure to thrive |
OMIM:114290 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Respiratory distress, Megaloblastic anemia, Neutropenia, Thrombocytopenia, Jaundice, Pulmonary em... |
ORPHA:79282 |
| Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Severe failure to thrive, Obstructive sleep apnea, EEG abnormality, Cachexia |
ORPHA:371364 |
| Whipple Disease |
|
Cough, Respiratory insufficiency, Cachexia, Anemia, Splenomegaly, Polydipsia |
ORPHA:3452 |
| Yao Syndrome |
|
Asthma, Weight loss |
OMIM:617321 |
| Dermatomyositis |
|
Acrocyanosis, Cutaneous photosensitivity, Weight loss, Telangiectasia of the skin, Erythema, Resp... |
ORPHA:221 |
| Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Hemophagocytosis, Hepatosplenomegaly, Weight loss |
ORPHA:86884 |
| Igg4-Related Aortitis |
|
Hypereosinophilia, Asthma, Weight loss |
ORPHA:449400 |
| Cystic Echinococcosis |
|
Weight loss, Jaundice, Splenic cyst, Asthma, Urticaria, Eosinophilia |
ORPHA:400 |
| Gm1 Gangliosidosis |
|
Oral aversion, Dysphagia, Weight loss, Aspiration pneumonia, Failure to thrive, Splenomegaly, Hep... |
ORPHA:354 |
| Diaphanospondylodysostosis |
|
Tracheomalacia, Respiratory distress, Respiratory insufficiency |
OMIM:608022 |
| Nodular Non-Suppurative Panniculitis |
|
Erythema, Weight loss, Splenomegaly |
ORPHA:33577 |
| Alveolar Echinococcosis |
|
Dyspnea, Cough, Abnormal spleen morphology, Weight loss, Jaundice, Anemia, Eosinophilia |
ORPHA:284 |
| Rare Circulatory System Disease |
|
Cyanosis |
ORPHA:98028 |
| Neuroblastoma, Susceptibility To, 1 |
|
Failure to thrive, Weight loss, Anemia |
OMIM:256700 |
| Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Midline brainstem cleft, Hypoplasia of the pons |
OMIM:617542 |
| Kniest Dysplasia |
|
Respiratory distress, Tracheomalacia |
OMIM:156550 |
| Congenital Fiber-Type Disproportion Myopathy |
|
Hypercapnia, Dysphagia, Weight loss, Respiratory insufficiency due to muscle weakness, Intercosta... |
ORPHA:2020 |
| Histiocytoid Cardiomyopathy |
|
Tachypnea, Cyanosis, Failure to thrive, Cough |
ORPHA:137675 |
| Klatskin Tumor |
|
Jaundice, Weight loss |
ORPHA:99978 |
| Leigh Syndrome |
|
Abnormal brainstem MRI signal intensity, Hypsarrhythmia, Dysphagia, Abnormal pattern of respirati... |
ORPHA:506 |
| Neuropathy, Congenital Hypomyelinating, 3 |
|
Cachexia, Respiratory insufficiency |
OMIM:618186 |
| Osteosarcoma |
|
Weight loss |
ORPHA:668 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Cachexia, Exertional dyspnea |
ORPHA:42 |
| Pitt-Hopkins Syndrome |
|
Acrocyanosis, Sleep apnea, Failure to thrive, Abnormal pattern of respiration, Hyperventilation |
ORPHA:2896 |
| Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Abnormal hemoglobin, Anemia |
ORPHA:847 |
| X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Dyspnea, Dysphagia, Cough, Weight loss, Aspiration pneumonia, Failure to thrive |
ORPHA:1018 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Stridor, Respiratory distress, Thrombocytopenia, Anemia, Leukopenia, Pulmonary arterial hypertens... |
ORPHA:505248 |
| Hemangiomatosis, Cutaneous, With Associated Features |
|
Acrocyanosis |
OMIM:234800 |
| Secondary Short Bowel Syndrome |
|
Failure to thrive, Polyphagia, Weight loss |
ORPHA:95427 |
| Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Pulmonary arterial hypertension, Cyanosis, Failure to thrive, Exertional dyspnea |
ORPHA:99050 |
| Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Conjunctival telangiectasia, Dyspnea, Lip telangiectasia, Spontaneous, recurrent epistaxis, Nasal... |
OMIM:610655 |
| Joubert Syndrome 17 |
|
Molar tooth sign on MRI, Hyperventilation |
OMIM:614615 |
| Erdheim-Chester Disease |
|
Dyspnea, Pleural effusion, Cough, Weight loss, Anemia, Polydipsia |
ORPHA:35687 |
| Pelizaeus-Merzbacher Disease |
|
Cachexia, Failure to thrive in infancy, Respiratory insufficiency |
ORPHA:702 |
| Riddle Syndrome |
|
Conjunctival telangiectasia, Recurrent pneumonia, Restrictive ventilatory defect, Recurrent sinus... |
ORPHA:420741 |
| Liposarcoma |
|
Weight loss |
ORPHA:69078 |
| Acute Disseminated Encephalomyelitis |
|
Abnormal brainstem MRI signal intensity, Interictal EEG abnormality, Respiratory failure requirin... |
ORPHA:83597 |
| Combined Oxidative Phosphorylation Defect Type 7 |
|
Abnormal brainstem MRI signal intensity, Failure to thrive, Oral-pharyngeal dysphagia |
ORPHA:254930 |
| Pfeiffer Syndrome Type 2 |
|
Tracheomalacia, Respiratory distress, Aqueductal stenosis |
ORPHA:93259 |
| Radio-Renal Syndrome |
|
Dyspnea, Respiratory distress, Pleural effusion, Respiratory failure, Chylothorax |
ORPHA:3015 |
| Primary Intestinal Lymphangiectasia |
|
Iron deficiency anemia, Pleural effusion, Lymphopenia, Weight loss, Failure to thrive |
ORPHA:90362 |
| Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Cachexia |
ORPHA:1389 |
| Familial Thrombocytosis |
|
Thrombocytosis, Chronic myelogenous leukemia, Weight loss, Acute myeloid leukemia, Splenomegaly, ... |
ORPHA:71493 |
| Sarcoidosis, Susceptibility To, 1 |
|
Restrictive ventilatory defect, Dyspnea, Bronchiectasis, Pleural effusion, Cough, Emphysema, Weig... |
OMIM:181000 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cyanosis |
OMIM:261740 |
| Nocardiosis |
|
Dyspnea, Respiratory distress, Pleural effusion, Emphysema, Nonproductive cough, Pneumonia, Weigh... |
ORPHA:31204 |
| Acquired Hypertrichosis Lanuginosa |
|
Weight loss |
ORPHA:2221 |
| Kallmann Syndrome-Heart Disease Syndrome |
|
Cyanosis |
ORPHA:2326 |
| Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked |
|
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:301040 |
| Renpenning Syndrome |
|
Cachexia |
ORPHA:3242 |
| Ménétrier Disease |
|
Hypochromic microcytic anemia, Weight loss |
ORPHA:2494 |
| Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Weight loss, Anemia |
ORPHA:324964 |
| Gangliocytoma |
|
Abnormal brainstem morphology, Polyphagia |
ORPHA:251937 |
| Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Cachexia, Failure to thrive in infancy |
OMIM:616801 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Acrocyanosis, Decreased sensitivity to hypoxemia |
OMIM:223900 |
| Neuroendocrine Tumor Of The Colon |
|
Facial telangiectasia, Bronchospasm, Weight loss |
ORPHA:100080 |
| Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Slender build, Cachexia, Weight loss |
OMIM:603041 |
| Peritoneal Cystic Mesothelioma |
|
Weight loss |
ORPHA:168816 |
| Pachyonychia Congenita |
|
Respiratory distress, Failure to thrive |
ORPHA:2309 |
| Pfeiffer Syndrome Type 3 |
|
Tracheomalacia, Respiratory distress, Aqueductal stenosis |
ORPHA:93260 |
| Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Neonatal respiratory distress, Respiratory distress, Tracheomalacia |
OMIM:217980 |
| Mitochondrial Dna-Associated Leigh Syndrome |
|
Apnea, Episodic respiratory distress, Dyspnea, Dysphagia, Failure to thrive, Hyperventilation |
ORPHA:255210 |
| Cap Polyposis |
|
Weight loss |
ORPHA:160148 |
| Neuroendocrine Tumor Of Stomach |
|
Iron deficiency anemia, Bronchospasm, Dermatological manifestations of systemic disorders, Weight... |
ORPHA:100075 |
| 47,Xyy Syndrome |
|
Abnormal brainstem morphology, Asthma |
ORPHA:8 |
| Eisenmenger Syndrome |
|
Iron deficiency anemia, Hypochromic microcytic anemia, Wheezing, Respiratory distress, Exertional... |
ORPHA:97214 |
| Carney-Stratakis Syndrome |
|
Dysphagia, Weight loss |
ORPHA:97286 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Weight loss |
OMIM:613239 |
| Arterial Tortuosity Syndrome |
|
Prematurely aged appearance, Dyspnea, Cardiorespiratory arrest, Respiratory distress, Telangiecta... |
ORPHA:3342 |
| Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Pulmonary arterial hypertension, Respiratory distress |
ORPHA:2519 |
| Granulomatosis With Polyangiitis |
|
Cough, Respiratory insufficiency, Weight loss, Rhinorrhea, Sinusitis, Granulomatosis |
OMIM:608710 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Weight loss |
OMIM:188580 |
| Familial Cerebral Saccular Aneurysm |
|
Abnormal brainstem morphology |
ORPHA:231160 |
| Listeriosis |
|
Abnormal brainstem MRI signal intensity, Respiratory distress, Splenic abscess, Pneumonia, Jaundi... |
ORPHA:533 |
| Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Respiratory distress |
OMIM:619383 |
| Isolated Succinate-Coq Reductase Deficiency |
|
Weight loss |
ORPHA:3208 |
| Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Respiratory distress |
ORPHA:990 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Weight loss |
ORPHA:103910 |
| Budd-Chiari Syndrome |
|
Jaundice, Weight loss, Splenomegaly |
ORPHA:131 |
| Ramos-Arroyo Syndrome |
|
Severe failure to thrive, Respiratory distress, Decreased body weight |
ORPHA:1051 |
| Wild Type Attr Amyloidosis |
|
Pleural effusion, Weight loss |
ORPHA:330001 |
| Celiac Disease, Susceptibility To, 1 |
|
Iron deficiency anemia, Thrombocytosis, Weight loss, Failure to thrive, Macrocytic anemia |
OMIM:212750 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Dyspnea, Respiratory distress, Pneumonia, Fragile skin, Respiratory failure, Failure to thrive, A... |
ORPHA:79404 |
| Lysosomal Acid Lipase Deficiency |
|
Bone-marrow foam cells, Vacuolated lymphocytes, Pulmonary arterial hypertension, Weight loss, Jau... |
ORPHA:275761 |
| Ring Chromosome 10 Syndrome |
|
Cachexia |
ORPHA:1438 |
| Auriculocondylar Syndrome |
|
Obstructive sleep apnea, Respiratory distress, Snoring |
ORPHA:137888 |
| Spinal muscular atrophy, type I, with congenital bone fractures |
|
Respiratory distress |
OMIM:271225 |
| Cryptococcosis |
|
Dyspnea, Respiratory distress, Pleural effusion, Cough, Pneumonia, Lymphoid leukemia |
ORPHA:1546 |
| Malignant Atrophic Papulosis |
|
Pleural effusion, Respiratory failure, Weight loss, Telangiectasia of the skin |
ORPHA:679 |
| Beare-Stevenson Cutis Gyrata Syndrome |
|
Palmoplantar cutis laxa, Respiratory distress |
OMIM:123790 |
| Neuroendocrine Tumor Of The Rectum |
|
Facial telangiectasia, Bronchospasm, Weight loss |
ORPHA:100081 |
| Neuroendocrine Tumor Of Anal Canal |
|
Facial telangiectasia, Bronchospasm, Weight loss |
ORPHA:100082 |
| Hermansky-Pudlak Syndrome |
|
Dyspnea, Neutropenia, Weight loss, Epistaxis, Bruising susceptibility |
ORPHA:79430 |
| Short Syndrome |
|
Excessive wrinkled skin, Weight loss |
ORPHA:3163 |
| Tetrasomy 12P |
|
Cachexia |
ORPHA:884 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Restrictive ventilatory defect, Respiratory distress |
OMIM:183900 |
| Adnp Syndrome |
|
