Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Hemoglobin D Disease |
|
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... |
ORPHA:90039 |
Autism, Susceptibility To, 20 |
|
Impaired social interactions, Attention deficit hyperactivity disorder |
OMIM:618830 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia, Cyanosis |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia, Cyanosis |
OMIM:617973 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
EEG abnormality, Hyperactivity, Abnormal social behavior |
ORPHA:436151 |
Intellectual Developmental Disorder, Autosomal Recessive 66 |
|
Aggressive behavior, Attention deficit hyperactivity disorder, Shyness, Gait ataxia |
OMIM:618221 |
Seizures, Benign Familial Infantile, 3 |
|
Apnea, Normal interictal EEG, Cyanosis |
OMIM:607745 |
Seizures, Benign Familial Infantile, 1 |
|
Apnea, Normal interictal EEG, Cyanosis |
OMIM:601764 |
Cyanosis, Transient Neonatal |
|
Methemoglobinemia, Anemia, Cyanosis, Reticulocytosis, Jaundice |
OMIM:613977 |
Ravine Syndrome |
|
Failure to thrive, Apnea, Decreased body weight, Atrophy/Degeneration affecting the brainstem, Ab... |
ORPHA:99852 |
Pyknoachondrogenesis |
|
Stillbirth |
OMIM:265880 |
Cyanosis And Hepatic Disease |
|
Dyspnea, Cyanosis |
OMIM:219400 |
Pulmonary Blastoma |
|
Dyspnea, Weight loss, Recurrent pneumonia, Cough |
ORPHA:64741 |
Apnea, Central Sleep |
|
Abnormal pattern of respiration, Sleep apnea, Cyanosis, Irregular respiration |
OMIM:207720 |
Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Neutrophilia, Leukocytosis, Nonproductive cough, Cyanosis, Crackles, Wheezi... |
ORPHA:1302 |
Autism |
|
Impaired ability to form peer relationships, EEG abnormality, Abnormal nonverbal communicative be... |
OMIM:209850 |
Autism, Susceptibility To, X-Linked 3 |
|
Lack of peer relationships, EEG abnormality, Abnormal nonverbal communicative behavior |
OMIM:300496 |
Autism, Susceptibility To, 8 |
|
Impaired ability to form peer relationships, EEG abnormality, Abnormal nonverbal communicative be... |
OMIM:607373 |
Autism, Susceptibility To, X-Linked 1 |
|
Lack of peer relationships, EEG abnormality, Abnormal nonverbal communicative behavior |
OMIM:300425 |
Chromosome 15Q11-Q13 Duplication Syndrome |
|
Impaired ability to form peer relationships, EEG abnormality, Abnormal nonverbal communicative be... |
OMIM:608636 |
Cholesterol Pneumonia |
|
Cyanosis, Pneumonia, Cough, Tachypnea |
OMIM:215030 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Failure to thrive, Cyanosis, Cough, Tachypnea, Respiratory failure |
OMIM:263000 |
Laryngotracheal Angioma |
|
Respiratory distress, Apnea, Cyanosis, Wheezing, Cough, Intercostal retractions, Stridor |
ORPHA:137935 |
Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Aspiration pneumonia, Upper airway obstruction, Dyspnea, Weight loss |
ORPHA:141152 |
Idiopathic Achalasia |
|
Wheezing, Cough, Recurrent aspiration pneumonia, Dysphagia, Weight loss |
ORPHA:930 |
Chronic Pneumonitis Of Infancy |
|
Respiratory distress, Failure to thrive, Cyanosis, Tachypnea, Cough, Intercostal retractions, Red... |
ORPHA:91359 |
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome |
|
Acrocyanosis |
ORPHA:86918 |
Laryngotracheoesophageal Cleft |
|
Impaired oropharyngeal swallow response, Cyanosis, Cough, Aspiration, Neonatal respiratory distre... |
ORPHA:2004 |
Venular Insufficiency, Systemic |
|
Cyanosis |
OMIM:192700 |
Sulfhemoglobinemia, Congenital |
|
Cyanosis |
OMIM:185460 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
Hemoglobin-Delta locus |
|
Anemia, Imbalanced hemoglobin synthesis |
OMIM:142000 |
Developmental And Epileptic Encephalopathy 15 |
|
Inability to walk, Poor eye contact, Irritability, Hypsarrhythmia |
OMIM:615006 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Respiratory distress, Failure to thrive, Cyanosis |
ORPHA:91130 |
Bronchopulmonary Dysplasia |
|
Respiratory distress, Hyperoxemia, Small for gestational age, Abnormal respiratory system physiol... |
ORPHA:70589 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Exertional dyspnea, Cyanosis, Polycythemia |
OMIM:250800 |
Acute Myelomonocytic Leukemia |
|
Leukocytosis, Eosinophilia, Weight loss, Dyspnea, Anemia, Thrombocytopenia |
ORPHA:517 |
Hemoglobin E Disease |
|
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... |
ORPHA:2133 |
Phosphoserine Aminotransferase Deficiency |
|
Apnea, Cyanotic episode |
OMIM:610992 |
Breath-Holding Spells |
|
Cyanosis, Iron deficiency anemia |
OMIM:607578 |
Carcinoma Of Esophagus |
|
Dysphagia, Obesity, Weight loss, Cough |
ORPHA:70482 |
Pleural Mesothelioma |
|
Respiratory distress, Cough, Pleural effusion, Dysphagia, Abnormal respiratory system physiology,... |
ORPHA:50251 |
Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Bruising susceptibility, Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Dyspnea, T... |
ORPHA:231401 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Central apnea, Cyanosis, EEG abnormality, Abnormal erythrocyte morphology |
ORPHA:71277 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic anemia, Decre... |
OMIM:603902 |
Hemoglobin H Disease |
|
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly |
OMIM:613978 |
Asperger Syndrome, X-Linked, Susceptibility To, 2 |
|
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior |
OMIM:300497 |
Asperger Syndrome, X-Linked, Susceptibility To, 1 |
|
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior |
OMIM:300494 |
Asperger Syndrome, Susceptibility To, 1 |
|
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior |
OMIM:608638 |
Asperger Syndrome, Susceptibility To, 2 |
|
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior |
OMIM:608631 |
Recurrent Respiratory Papillomatosis |
|
Respiratory distress, Failure to thrive, Tracheomalacia, Nonproductive cough, Respiratory insuffi... |
ORPHA:60032 |
Obesity-Hypoventilation Syndrome |
|
Obesity, Cyanosis, Hypoventilation |
OMIM:257500 |
Tuberculosis |
|
Weight loss, Cough |
ORPHA:3389 |
Perching Syndrome |
|
Dysphagia, Respiratory distress |
OMIM:617055 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly |
ORPHA:231393 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Respiratory distress, Crackles, Acute infectious pneumonia, Tachypnea, Respiratory failure requir... |
ORPHA:264675 |
Emphysema, Congenital Lobar |
|
Respiratory distress |
OMIM:130710 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:3319 |
Hypomyelination Neuropathy-Arthrogryposis Syndrome |
|
Respiratory distress |
ORPHA:2680 |
Hereditary Methemoglobinemia |
|
Methemoglobinemia, Exertional dyspnea, Cyanosis, Small for gestational age |
ORPHA:621 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Stuve-Wiedemann Syndrome 2 |
|
Respiratory distress, Neonatal death, Pulmonary arterial hypertension, Dysphagia, Thrombocytopeni... |
OMIM:619751 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Anemia, Splenomegaly |
ORPHA:46532 |
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset |
|
Respiratory distress, Failure to thrive, Respiratory insufficiency, Abnormal motor nerve conducti... |
OMIM:614399 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
Unilateral Focal Polymicrogyria |
|
EEG with frontal focal spikes, EEG with parietal focal spikes, Abnormal nonverbal communicative b... |
ORPHA:268947 |
Primary Familial Polycythemia |
|
Abnormal hemoglobin, Polycythemia, Cough, Dyspnea, Exertional dyspnea, Epistaxis |
ORPHA:90042 |
Benign Familial Infantile Epilepsy |
|
Apnea, Normal interictal EEG, Interictal epileptiform activity, Cyanosis |
ORPHA:306 |
Laryngeal Abductor Paralysis |
|
Dysphagia, Cyanosis, Stridor |
OMIM:150260 |
Alpha-Thalassemia |
|
Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, Jaundice, Hypersp... |
ORPHA:846 |
Hereditary Geniospasm |
|
Abnormal social behavior |
ORPHA:53372 |
Severe Acute Respiratory Syndrome |
|
Respiratory distress, Chronic lung disease, Acute infectious pneumonia, Respiratory failure requi... |
ORPHA:140896 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Bronchiectasis, Reduced FEV1/FVC ratio, Chronic pulmonary obstruction, Nonproductive cough, Decre... |
ORPHA:79127 |
Delta-Beta-Thalassemia |
|
Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Dysphagia, Sudden... |
OMIM:254210 |
Slc35A1-Cdg |
|
Respiratory distress, Subcutaneous hemorrhage, Giant platelets, Neutropenia, Hypoxemia, Pneumonia... |
ORPHA:238459 |
Bullous Dystrophy, Hereditary Macular Type |
|
Acrocyanosis |
OMIM:302000 |
Developmental And Epileptic Encephalopathy 67 |
|
EEG abnormality, Poor eye contact, Athetosis, Gait disturbance, Hypsarrhythmia |
OMIM:618141 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Failure to thrive, Apnea, Cyanosis, Neonatal death, Tachypnea, Neonatal respiratory distress, Dys... |
OMIM:265120 |
Immunodeficiency 95 |
|
Respiratory distress, Recurrent viral pneumonia, Lymphopenia, Respiratory failure |
OMIM:619773 |
Neuralgic Amyotrophy |
|
Respiratory insufficiency, Acrocyanosis |
ORPHA:2901 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Respiratory distress, Failure to thrive |
OMIM:615595 |
Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
Congenital Pulmonary Lymphangiectasia |
|
Respiratory distress, Chronic pulmonary obstruction, Splenomegaly, Cyanosis, Cough, Pleural effus... |
ORPHA:2414 |
Developmental And Epileptic Encephalopathy 30 |
|
Respiratory distress, Hypsarrhythmia |
OMIM:616341 |
Pandas |
|
Agoraphobia, Abnormal fear/anxiety-related behavior, Impulsivity, Depression, Separation insecuri... |
ORPHA:66624 |
Acquired Methemoglobinemia |
|
Methemoglobinemia, Respiratory distress, Cyanosis, Hypoxemia, Dyspnea |
ORPHA:464453 |
Early-Onset Schizophrenia |
|
Impairment in personality functioning, Abnormal emotion/affect behavior, Depression, Anxiety, No ... |
ORPHA:96369 |
Gaucher Disease Type 2 |
|
Respiratory distress, Splenomegaly, Cough, Dysphagia, Abnormal pattern of respiration |
ORPHA:77260 |
Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Dysphagia, Sudden... |
OMIM:605809 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Failure to thrive, Nonspecific interstitial pneumonia, Cyanosis, Respirator... |
OMIM:610913 |
Laryngeal Neuroendocrine Tumor |
|
Exertional dyspnea, Weight loss, Oral-pharyngeal dysphagia |
ORPHA:100083 |
Sickle Cell Anemia |
|
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... |
ORPHA:232 |
Asbestos Intoxication |
|
Oxygen desaturation on exertion, Reduced vital capacity, Nonproductive cough, Cyanosis, Reduced f... |
ORPHA:2302 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Failure to thrive, Apnea, Nonspecific interstitial pneumonia, Cyanosis, Neo... |
OMIM:610921 |
Pneumocystosis |
|
Nonproductive cough, Respiratory insufficiency, Interstitial pneumonitis, Acute infectious pneumo... |
ORPHA:723 |
Benign Familial Neonatal Epilepsy |
|
Increased theta frequency activity in EEG, Circumoral cyanosis, Apnea, Focal EEG discharges with ... |
ORPHA:1949 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Failure to thrive, Abnormal brainstem MRI signal intensity, Cyanosis, Stridor, Paroxysmal dyspnea... |
ORPHA:444013 |
Choanal Atresia |
|
Respiratory distress, Tracheomalacia, Cyanosis, Abnormal nasal mucus secretion, Chronic sinusitis... |
ORPHA:137914 |
Autism, Susceptibility To, X-Linked 2 |
|
Lack of peer relationships, EEG abnormality, Abnormal nonverbal communicative behavior |
OMIM:300495 |
Allergic Bronchopulmonary Aspergillosis |
|
Asthma, Abnormal eosinophil morphology, Respiratory insufficiency, Cough, Emphysema, Bronchiectas... |
ORPHA:1164 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Cyanosis, Crackles, Cough, Decreased DLCO, Restrictive ventilatory defect, Hypoxemia, Dyspnea, We... |
ORPHA:747 |
Pulmonary Alveolar Proteinosis, Acquired |
|
Cyanosis, Decreased DLCO, Cough, Restrictive ventilatory defect, Pneumonia, Hypoxemia, Dyspnea |
OMIM:610910 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Asthma, Leukocytosis, Nonproductive cough, Generalized abnormality of skin, Crackles, Wheezing, H... |
ORPHA:2902 |
Mantle Cell Lymphoma |
|
Weight loss, Splenomegaly |
ORPHA:52416 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Respiratory distress, Chronic pulmonary obstruction, Crackles, Cough, Pneumothorax, Pleural effus... |
ORPHA:411703 |
Primary Pulmonary Hypoplasia |
|
Failure to thrive, Apnea, Asthma, Cyanosis, Tachypnea, Pneumothorax, Abnormal breath sound, Restr... |
ORPHA:2257 |
Diffuse Alveolar Hemorrhage |
|
Airway obstruction, Pulmonary venous hypertension, Increased DLCO, Leukocytosis, Anemia, Respirat... |
ORPHA:90060 |
Malaria |
|
Respiratory distress, Anemia, Thrombocytopenia |
ORPHA:673 |
Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Reduced forced expiratory volume in one second, Reduced FEV1/FVC ratio, Airway obstruction, Nonpr... |
ORPHA:1303 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Circulating nucleated red blood cells, Anemia of inadequate production, Splenomegaly, Anemia, Ani... |
OMIM:613673 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Respiratory distress, Decreased body weight, Respiratory insufficiency due to muscle weakness |
OMIM:300580 |
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Respiratory distress |
ORPHA:171703 |
Idiopathic Bronchiectasis |
|
Reduced FEV1/FVC ratio, Cachexia, Crackles, Acute infectious pneumonia, Wheezing, Productive coug... |
ORPHA:60033 |
Dopa-Responsive Dystonia |
|
Agoraphobia, Inability to walk, Abnormal social behavior, Depression, Anxiety, Panic attack, Fati... |
ORPHA:255 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory distress, Respiratory insufficiency, Recurrent pneumonia, Dysphagia, Ventilator depen... |
ORPHA:254875 |
Muscular Hypertonia, Lethal |
|
Respiratory distress, Pneumonia |
OMIM:254120 |
Infant Acute Respiratory Distress Syndrome |
|
Cyanosis, Tachypnea, Pneumonia, Hypoxemia, Respiratory failure, Nasal flaring |
ORPHA:70587 |
Bardet-Biedl Syndrome 16 |
|
Respiratory distress, Obesity |
OMIM:615993 |
Chronic Hiccup |
|
Weight loss, Abnormal eating behavior |
ORPHA:396 |
Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Neutrophilia, Leukocytosis, Nonproductive cough, Pleural empyema, Leukopeni... |
ORPHA:36238 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Respiratory distress, Failure to thrive, Weight loss, Cachexia |
OMIM:612075 |
Female Restricted Epilepsy With Intellectual Disability |
|
Hyperactivity, Impulsivity, Abnormal social behavior, Anxiety, Aggressive behavior |
ORPHA:101039 |
Acute Interstitial Pneumonia |
|
Hypoxemia, Nonproductive cough, Cyanosis, Crackles, Tachypnea, Decreased DLCO, Pleural effusion, ... |
ORPHA:79126 |
Chronic Beryllium Disease |
|
Reduced FEV1/FVC ratio, Lymphocytic interstitial pneumonia, Respiratory insufficiency, Cough, Abn... |
ORPHA:133 |
Cryofibrinogenemia, Familial Primary |
|
Acrocyanosis |
OMIM:123540 |
Isaacs Syndrome |
|
Weight loss, EEG abnormality |
ORPHA:84142 |
Anaplastic Thyroid Carcinoma |
|
Respiratory distress, Cough, Upper airway obstruction, Dysphagia, Dyspnea, Weight loss, Stridor |
ORPHA:142 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Broad-based gait, Abnormal fear/anxiety-related behavior, Hyperactivity, Shuffling gait, Focal EE... |
ORPHA:3077 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive |
|
Respiratory distress, Failure to thrive, Lymphocytic interstitial pneumonia |
OMIM:245590 |
Cleft Larynx, Posterior |
|
Cyanosis, Aspiration |
OMIM:215800 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:300448 |
Hodgkin Lymphoma |
|
Dyspnea, Weight loss, Cough, Splenomegaly |
ORPHA:98293 |
Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:1832 |
Lennox-Gastaut Syndrome |
|
EEG with focal sharp slow waves, EEG abnormality, Abnormal brainstem morphology |
ORPHA:2382 |
Ethylmalonic Encephalopathy |
|
Failure to thrive, Petechiae, Acrocyanosis, Abnormal brainstem MRI signal intensity |
ORPHA:51188 |
Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia, Cyanosis |
OMIM:250790 |
Galactose Epimerase Deficiency |
|
Weight loss, Jaundice, Splenomegaly |
ORPHA:79238 |
Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome |
|
Respiratory insufficiency, Abnormal brainstem MRI signal intensity |
ORPHA:263410 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Reduced vital capacity, Cyanosis, Orthopnea, Restrictive ventilatory defect, Exertional dyspnea, ... |
ORPHA:98913 |
11Q22.2Q22.3 Microdeletion Syndrome |
|
Attention deficit hyperactivity disorder, Anxiety, Poor eye contact, Abnormal social behavior |
ORPHA:444002 |
Severe X-Linked Mitochondrial Encephalomyopathy |
|
Respiratory distress, Respiratory insufficiency |
ORPHA:238329 |
Succinic Acidemia |
|
Respiratory distress |
OMIM:600335 |
Sepsis In Premature Infants |
|
Decreased body weight, Petechiae, Leukocytosis, Splenomegaly, Small for gestational age, Cyanosis... |
ORPHA:90051 |
Beta-Thalassemia |
|
Abnormal hemoglobin, Splenomegaly, Respiratory insufficiency, Microcytic anemia, Anemia, Thromboc... |
ORPHA:848 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Respiratory distress |
OMIM:619099 |
Congenital Disorder Of Glycosylation, Type Iy |
|
Respiratory distress, Failure to thrive |
OMIM:300934 |
Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea |
OMIM:267450 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Failure to thrive |
ORPHA:26792 |
Refractory Anemia |
|
Anemia of inadequate production, Normocytic anemia, Erythroid hypoplasia, Macrocytic anemia, Neut... |
ORPHA:98826 |
Congenital Myasthenic Syndrome |
|
Episodic respiratory distress, Respiratory arrest, Central sleep apnea, EEG with polyspike wave c... |
ORPHA:590 |
Presynaptic Congenital Myasthenic Syndromes |
|
Episodic respiratory distress, Respiratory arrest, Central sleep apnea, EEG with polyspike wave c... |
ORPHA:98914 |
Congenital Disorder Of Glycosylation, Type Ie |
|
Respiratory distress, Failure to thrive, EEG abnormality, Splenomegaly, Pontocerebellar atrophy, ... |
OMIM:608799 |
Cardiomyopathy, Dilated, 1Gg |
|
Respiratory distress |
OMIM:613642 |
Motor Neuropathy, Peripheral, With Dysautonomia |
|
Cyanosis, Decreased nerve conduction velocity |
OMIM:252320 |
Laryngomalacia |
|
Respiratory distress, Congenital laryngeal stridor |
OMIM:150280 |
Triosephosphate Isomerase Deficiency |
|
Respiratory distress, Failure to thrive, Splenomegaly, Respiratory insufficiency, Normocytic anem... |
OMIM:615512 |
Diamond-Blackfan Anemia 3 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, Reticulocytope... |
OMIM:610629 |
Eosinophilic Fasciitis |
|
Eosinophilia, Weight loss, Acrocyanosis, Abnormal eosinophil morphology |
ORPHA:3165 |
Folinic Acid-Responsive Seizures |
|
Respiratory distress, Apnea, Hypsarrhythmia, Multifocal epileptiform discharges, EEG with general... |
ORPHA:79097 |
Arnold-Chiari Malformation Type Ii |
|
Apnea, Aqueductal stenosis, Cyanosis, Abnormal medulla oblongata morphology, Inspiratory stridor,... |
ORPHA:1136 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Respiratory distress, Failure to thrive, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia |
ORPHA:79312 |
Immunodeficiency 27A |
|
Histiocytosis, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytosis, Weight loss, Abnor... |
OMIM:209950 |
Acute Lung Injury |
|
Respiratory distress, Tachypnea, Pneumonia, Hypoxemia, Dyspnea, Respiratory failure |
ORPHA:178320 |
Avian Influenza |
|
Respiratory distress, Lymphopenia, Nonproductive cough, Leukopenia, Tachypnea, Cough, Pneumothora... |
ORPHA:454836 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Respiratory distress, Abnormal mucociliary clearance, Bronchiectasis |
OMIM:619466 |
Childhood Absence Epilepsy |
|
Abnormal social behavior, Depression, Anxiety, Low self esteem, EEG with spike-wave complexes (2.... |
ORPHA:64280 |
Hypoadrenocorticism, Familial |
|
Apnea, Cyanosis |
OMIM:240200 |
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema |
|
Respiratory distress, Angioedema, Erythema, Upper airway obstruction |
ORPHA:100057 |
Thyroid Lymphoma |
|
Respiratory distress, Upper airway obstruction, Dysphagia, Dyspnea, Stridor |
ORPHA:97285 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Respiratory distress, Neuromuscular dysphagia |
ORPHA:240085 |
Meconium Aspiration Syndrome |
|
Respiratory distress, Aspiration pneumonia, Wheezing, Pneumothorax, Hypoxemia, Neonatal asphyxia,... |
ORPHA:70588 |
Pulmonary Arteriovenous Malformation |
|
Hemothorax, Pleural empyema, Cyanosis, Iron deficiency anemia, Cough, Hypoxemia, Dyspnea, Telangi... |
ORPHA:2038 |
Oculopharyngodistal Myopathy |
|
Impaired oropharyngeal swallow response, Recurrent aspiration pneumonia, Restrictive ventilatory ... |
ORPHA:98897 |
Congenital Tracheomalacia |
|
Failure to thrive, Apnea, Tracheomalacia, Decreased peak expiratory flow, Cyanosis, Respiratory i... |
ORPHA:95430 |
Congenital Diaphragmatic Hernia |
|
Hypoxemia, Respiratory distress |
ORPHA:2140 |
Restrictive Dermopathy 2 |
|
Respiratory distress, Cyanosis |
OMIM:619793 |
Spinocerebellar Ataxia Type 1 |
|
Atrophy/Degeneration affecting the brainstem, Abnormal brainstem morphology, Dysphagia, Abnormali... |
ORPHA:98755 |
Stt3B-Cdg |
|
Respiratory distress, Failure to thrive, Thrombocytopenia |
ORPHA:370924 |
Joubert Syndrome 7 |
|
Episodic tachypnea, Tachypnea, Central apnea, Neonatal breathing dysregulation, Molar tooth sign ... |
OMIM:611560 |
Reticular Dysgenesis |
|
Failure to thrive, Leukopenia, Abnormality of neutrophils, Weight loss, Anemia |
ORPHA:33355 |
Mu-Heavy Chain Disease |
|
Anemia, Weight loss, Abnormal B cell count, Splenomegaly |
ORPHA:100024 |
Congenital Lobar Emphysema |
|
Respiratory distress, Emphysema |
ORPHA:1928 |
N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress, Failure to thrive |
OMIM:237310 |
Congenital Disorder Of Glycosylation, Type Ix |
|
Respiratory distress, Failure to thrive, Thrombocytopenia |
OMIM:615597 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Apnea, Cyanosis, EEG abnormality |
OMIM:261680 |
Autism, Susceptibility To, 3 |
|
Impaired ability to form peer relationships, EEG abnormality, Abnormal nonverbal communicative be... |
OMIM:608049 |
Multicentric Reticulohistiocytosis |
|
Histiocytosis, Cachexia |
ORPHA:139436 |
Acute Promyelocytic Leukemia |
|
Petechiae, Leukocytosis, Bruising susceptibility, Leukopenia, Pancytopenia, Weight loss, Purpura,... |
ORPHA:520 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Dysphagia, Episodic tachypnea, Apneic episodes in infancy, Abnormal brainstem morphology |
ORPHA:163961 |
Mitochondrial Phosphate Carrier Deficiency |
|
Respiratory insufficiency, Cyanosis |
OMIM:610773 |
Pulmonary Capillary Hemangiomatosis |
|
Hemothorax, Cyanosis, Elevated pulmonary artery pressure, Decreased DLCO, Pleural effusion, Hypox... |
ORPHA:199241 |
Hsd10 Disease |
|
Gait disturbance, Ataxia, Choreoathetosis, Abnormal social behavior |
ORPHA:391417 |
Gómez-López-Hernández Syndrome |
|
Abnormal brainstem morphology |
ORPHA:1532 |
Tricuspid Atresia |
|
Cyanosis |
ORPHA:1209 |
Holocarboxylase Synthetase Deficiency |
|
Respiratory distress, Weight loss, Thrombocytopenia, Tachypnea |
ORPHA:79242 |
Diamond-Blackfan Anemia 6 |
|
Increased mean corpuscular volume, Failure to thrive, Tracheomalacia, Persistence of hemoglobin F... |
OMIM:612561 |
Pontocerebellar Hypoplasia Type 10 |
|
Abnormal brainstem morphology |
ORPHA:411493 |
Idiopathic Neonatal Atrial Flutter |
|
Large for gestational age, Respiratory distress, Tachypnea |
ORPHA:45452 |
Familial Nasal Acilia |
|
Respiratory distress, Chronic rhinitis, Chronic sinusitis, Bronchiectasis, Dyspnea |
ORPHA:922 |
Buerger Disease |
|
Acrocyanosis |
ORPHA:36258 |
Intestinal Dysmotility Syndrome |
|
Failure to thrive, Weight loss |
OMIM:620045 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Oxygen desaturation on exertion, Respiratory distress, Asthma, Crackles, Tachypnea, Wheezing, Cou... |
OMIM:610978 |
Pulmonary Alveolar Microlithiasis |
|
Oxygen desaturation on exertion, Nonproductive cough, Cyanosis, Respiratory insufficiency, Tachyp... |
ORPHA:60025 |
Chiari Malformation Type Ii |
|
Dysphagia, Cyanosis, Inspiratory stridor |
OMIM:207950 |
Undifferentiated Pleomorphic Sarcoma |
|
Weight loss |
ORPHA:2023 |
Imerslund-Gräsbeck Syndrome |
|
Megaloblastic anemia, Failure to thrive, Neutropenia, Anisopoikilocytosis, Macrocytic anemia, Thr... |
ORPHA:35858 |
Huntington Disease-Like 2 |
|
Weight loss |
ORPHA:98934 |
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Respiratory distress, Ventilator dependence with inability to wean, Respiratory failure requiring... |
ORPHA:254864 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Dysphagia, Weight loss |
ORPHA:2198 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Respiratory distress |
OMIM:604377 |
Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Failure to thrive, Abnormal brainstem morphology |
ORPHA:255182 |
Peripheral Motor Neuropathy-Dysautonomia Syndrome |
|
Acrocyanosis |
ORPHA:2400 |
Oromandibular Dystonia |
|
Dysphagia, Weight loss, Respiratory distress |
ORPHA:93958 |
Acute Monoblastic/Monocytic Leukemia |
|
Lymphocytosis, Leukocytosis, Hypochromic anemia, Acute monocytic leukemia, Weight loss, Exertiona... |
ORPHA:514 |
Dominant Beta-Thalassemia |
|
Decreased mean corpuscular volume, Splenomegaly, Extramedullary hematopoiesis, Anisocytosis, Pers... |
ORPHA:231226 |
Bone Marrow Failure Syndrome 6 |
|
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Recurrent sinusitis,... |
OMIM:618849 |
Eosinophilic Gastroenteritis |
|
Asthma, Leukocytosis, Eosinophilia, Allergic rhinitis, Weight loss, Dysphagia, Anemia |
ORPHA:2070 |
Joubert Syndrome 33 |
|
Apnea, Molar tooth sign on MRI |
OMIM:617767 |
Hereditary Central Diabetes Insipidus |
|
Polydipsia, Weight loss |
ORPHA:30925 |
Beta-Thalassemia Major |
|
Anemia of inadequate production, Decreased mean corpuscular volume, Splenomegaly, Extramedullary ... |
ORPHA:231214 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Dysphagia, Respiratory distress |
ORPHA:240103 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Respiratory distress, Anemia, Thrombocytopenia, Neutropenia |
ORPHA:289916 |
Dravet Syndrome |
|
EEG with focal epileptiform discharges, EEG with generalized epileptiform discharges, Cyanotic ep... |
ORPHA:33069 |
Rhabdoid Tumor |
|
Weight loss, Anemia, Thrombocytopenia, Respiratory insufficiency |
ORPHA:69077 |
Laryngeal Web, Familial |
|
Respiratory distress, Stridor |
OMIM:150360 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Cyanotic episode, EEG with focal sharp waves, Failure to thrive in infancy, EEG with polyspike wa... |
ORPHA:284417 |
Tularemia |
|
Respiratory distress, Leukocytosis, Cough, Pneumonia, Pleural effusion, Anemia, Thrombocytopenia |
ORPHA:3392 |
Shwachman-Diamond Syndrome 1 |
|
Respiratory distress, Failure to thrive, Small for gestational age, Persistence of hemoglobin F, ... |
OMIM:260400 |
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Respiratory distress, Failure to thrive, EEG with focal epileptiform discharges, Interictal EEG a... |
ORPHA:544503 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Leukocytosis, Splenomegaly, Bruising susceptibility, Myeloproliferative disorder, Abnormal neutro... |
ORPHA:3226 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
HbH hemoglobin, Failure to thrive, Microcytic anemia, Bruising susceptibility |
ORPHA:98791 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Respiratory distress, Small for gestational age |
OMIM:616733 |
Lymphoid Interstitial Pneumonia |
|
Failure to thrive, Pulmonary venous hypertension, Crackles, Wheezing, Decreased DLCO, Cough, Rest... |
ORPHA:79128 |
Primary Myelofibrosis |
|
Petechiae, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Cachexia, Hepatosplenomegaly... |
ORPHA:824 |
Leishmaniasis |
|
Rhinitis, Splenomegaly, Leukopenia, Abnormal macrophage morphology, Weight loss, Pancytopenia, An... |
ORPHA:507 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Respiratory distress, Schistocytosis, Prolonged neonatal jaundice, Microangiopathic hemolytic ane... |
OMIM:274150 |
Complete Atrioventricular Septal Defect |
|
Failure to thrive, Pulmonary venous hypertension, Cyanosis, Crackles, Elevated pulmonary artery p... |
ORPHA:1329 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Respiratory distress, Failure to thrive |
OMIM:618426 |
Congenital Tricuspid Valve Dysplasia |
|
Small for gestational age, Cyanosis, Respiratory failure requiring assisted ventilation, Tachypne... |
ORPHA:555874 |
Congenital Laryngeal Web |
|
Respiratory distress, Stridor |
ORPHA:2374 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Failure to thrive, Small for gestational age, Cyanosis, Tachypnea, Hypoxemia |
ORPHA:860 |
Hb Bart'S Hydrops Fetalis |
|
Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:163596 |
Thymoma |
|
Aplastic anemia, Cough, Imbalanced hemoglobin synthesis, Pure red cell aplasia, Dyspnea, Weight l... |
ORPHA:99867 |
Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
Gaucher Disease, Perinatal Lethal |
|
Respiratory distress, Apnea, Decreased body weight, Petechiae, Splenomegaly, Hepatosplenomegaly, ... |
OMIM:608013 |
Achondroplasia |
|
Upper airway obstruction, Brain stem compression |
OMIM:100800 |
Mitochondrial Pyruvate Carrier Deficiency |
|
Respiratory distress |
OMIM:614741 |
Leigh Syndrome With Cardiomyopathy |
|
Respiratory distress, Failure to thrive, Apnea, Central hypoventilation, Abnormal brainstem morph... |
ORPHA:70474 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Weight loss, Splenomegaly |
ORPHA:86893 |
Beta-Thalassemia Intermedia |
|
Anemia of inadequate production, Decreased mean corpuscular volume, Leukocytosis, Splenomegaly, E... |
ORPHA:231222 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Self-injurious behavior, Poor eye contact, Hyperactivity, Depression, Anxiety, Attention deficit ... |
ORPHA:449291 |
Aggressive Systemic Mastocytosis |
|
Urticaria, Neutropenia, Abnormal mast cell morphology, Flushing, Leukocytosis, Hepatosplenomegaly... |
ORPHA:98850 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Respiratory distress, Respiratory insufficiency, Dysphagia, Dyspnea, Nocturnal hypoventilation, S... |
OMIM:211530 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Slender build, Cachexia, Weight loss |
OMIM:613662 |
Myasthenia Gravis |
|
Hemolytic anemia, Pure red cell aplasia, Dysphagia, Dyspnea, Acrocyanosis |
ORPHA:589 |
Thymic Carcinoma |
|
Dyspnea, Weight loss, Cough |
ORPHA:99868 |
Encephalopathy, Ethylmalonic |
|
Failure to thrive, Petechiae, Acrocyanosis |
OMIM:602473 |
Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Respiratory distress, Failure to thrive |
ORPHA:261304 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Decreased sensory nerve conduction velocity, Anemia, Cachexia, Decreased motor nerve conduction v... |
ORPHA:298 |
Myopathy And Diabetes Mellitus |
|
Respiratory distress |
ORPHA:2596 |
Primary Dystonia, Dyt4 Type |
|
Dysphagia, Respiratory distress, Eunuchoid habitus |
ORPHA:98805 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Dysphagia, Respiratory distress, Hypoplastic spleen |
ORPHA:89844 |
20Q11.2 Microdeletion Syndrome |
|
Brainstem dysplasia |
ORPHA:444051 |
Erythrokeratodermia Variabilis |
|
Weight loss, Cutaneous photosensitivity, Erythema |
ORPHA:317 |
Follicular Lymphoma |
|
Weight loss, Pleural effusion, Splenomegaly |
ORPHA:545 |
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Cachexia |
ORPHA:1216 |
Hypoglossia With Situs Inversus |
|
Respiratory distress, Polysplenia, Upper airway obstruction, Asplenia |
OMIM:612776 |
Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
Beta-Thalassemia |
|
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio |
OMIM:613985 |
Insulin Autoimmune Syndrome |
|
Weight loss |
ORPHA:411593 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Asthma, Urticaria, Sinusitis, Cutis marmorata, Eosinophilia, Respiratory insufficiency, Cough, Pu... |
ORPHA:183 |
Lethal Recessive Chondrodysplasia |
|
Respiratory distress |
ORPHA:1423 |
Congenital Disorder Of Glycosylation, Type Iu |
|
Respiratory distress, Neonatal respiratory distress |
OMIM:615042 |
Riboflavin Transporter Deficiency |
|
Dysphagia, Cachexia, Respiratory insufficiency, Sleep apnea |
ORPHA:97229 |
Bronchial Neuroendocrine Tumor |
|
Asthma, Nonproductive cough, Bronchospasm, Wheezing, Facial telangiectasia, Dermatological manife... |
ORPHA:97287 |
Tetrasomy 5P |
|
Respiratory distress, Failure to thrive, Cyanosis, Pulmonary arterial hypertension |
ORPHA:3309 |
Wilson Disease |
|
Failure to thrive, Bruising susceptibility, Splenomegaly, Weight loss, Increased body weight, Ane... |
ORPHA:905 |
Methylmalonic Aciduria, Cblb Type |
|
Respiratory distress, Failure to thrive, Pancytopenia, Neutropenia, Anemia, Thrombocytopenia |
OMIM:251110 |
X-Linked Centronuclear Myopathy |
|
Respiratory distress, Pneumonia, Respiratory failure requiring assisted ventilation |
ORPHA:596 |
Mast Cell Sarcoma |
|
Weight loss, Mastocytosis, Splenomegaly |
ORPHA:66661 |
Central Diabetes Insipidus |
|
Failure to thrive, Polydipsia, Weight loss |
ORPHA:178029 |
Perry Syndrome |
|
Central hypoventilation, Weight loss |
ORPHA:178509 |
Bone Dysplasia, Lethal Holmgren Type |
|
Failure to thrive, Anemia, Weight loss, Respiratory insufficiency |
ORPHA:1842 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Respiratory distress, Dyspnea, Cough |
ORPHA:86812 |
Mulibrey Nanism |
|
Cachexia |
ORPHA:2576 |
Congenital Fibrinogen Deficiency |
|
Bruising susceptibility, Cyanosis, Subcutaneous hemorrhage, Splenic rupture |
ORPHA:335 |
Esophageal Atresia |
|
Respiratory distress, Laryngotracheomalacia, Episodic respiratory distress, Oral aversion, Chroni... |
ORPHA:1199 |
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6 |
|
Respiratory distress, Paradoxical respiration |
OMIM:620011 |
Takayasu Arteritis |
|
Abnormal pattern of respiration, Anemia, Weight loss, Pulmonary arterial hypertension |
ORPHA:3287 |
Hsd10 Disease, Infantile Type |
|
Dysphagia, Cyanosis |
ORPHA:391428 |
Atrial Septal Defect, Ostium Primum Type |
|
Failure to thrive, Airway obstruction, Cyanosis, Abnormal respiratory system physiology, Tachypne... |
ORPHA:99106 |
Progressive Supranuclear Palsy |
|
Impulsivity, Depression, Falls, Unsteady gait, Abnormal synaptic transmission |
ORPHA:683 |
Majeed Syndrome |
|
Failure to thrive, Leukocytosis, Congenital hypoplastic anemia, Splenomegaly, Cachexia, Hypochrom... |
ORPHA:77297 |
Nipah Virus Disease |
|
Respiratory distress, Cough |
ORPHA:99825 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Persistence of hemoglobin F, Sleep apnea, Overweight, Recurrent pneumonia |
OMIM:619769 |
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Cachexia |
ORPHA:1144 |
Toxic Epidermal Necrolysis |
|
Respiratory distress, Polydipsia, Erythema, Cough, Weight loss, Restrictive ventilatory defect, N... |
ORPHA:537 |
Methylmalonic Aciduria, Cbla Type |
|
Respiratory distress, Failure to thrive, Pancytopenia, Neutropenia, Anemia, Thrombocytopenia |
OMIM:251100 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Large for gestational age, Respiratory distress, Prolonged neonatal jaundice |
ORPHA:226313 |
Neurogenic Arthrogryposis Multiplex Congenita |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness |
ORPHA:1143 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Cachexia, Respiratory insufficiency |
ORPHA:157973 |
Classic Hodgkin Lymphoma |
|
Respiratory insufficiency, Weight loss, Cough, Splenomegaly |
ORPHA:391 |
Diencephalic Syndrome |
|
Cachexia, Decreased body weight |
ORPHA:1672 |
Isolated Right Ventricular Hypoplasia |
|
Hypoxemia, Dyspnea, Cyanosis |
ORPHA:439 |
Moebius Syndrome |
|
Dysphagia, Respiratory distress, Hypoplasia of the brainstem |
OMIM:157900 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Respiratory distress, Failure to thrive, Leukopenia, Neutropenia, Thrombocytopenia |
OMIM:251000 |
Ciliary Dyskinesia, Primary, 2 |
|
Respiratory distress, Sinusitis, Ciliary dyskinesia, Bronchiectasis, Immotile cilia |
OMIM:606763 |
Pseudomyxoma Peritonei |
|
Respiratory insufficiency, Weight loss |
ORPHA:26790 |
Huntington Disease |
|
Decreased body mass index, Polyphagia, Weight loss, Choking episodes, Oral-pharyngeal dysphagia |
ORPHA:399 |
Double Outlet Right Ventricle |
|
Failure to thrive, Cyanosis, Tachypnea |
ORPHA:3426 |
Malignant Peritoneal Mesothelioma |
|
Dyspnea, Weight loss |
ORPHA:168811 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Failure to thrive, Acrocyanosis |
OMIM:614407 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Respiratory distress, Failure to thrive, Hepatosplenomegaly, Generalized abnormality of skin, Res... |
ORPHA:367 |
Developmental And Epileptic Encephalopathy 68 |
|
Respiratory distress, Failure to thrive |
OMIM:618201 |
Fatal Familial Insomnia |
|
Dysphagia, Apnea, Weight loss |
OMIM:600072 |
Huntington Disease-Like 2 |
|
Weight loss |
OMIM:606438 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Dysphagia, Cyanosis, Failure to thrive in infancy |
ORPHA:488627 |
Microlissencephaly-Micromelia Syndrome |
|
Respiratory distress, Failure to thrive, EEG abnormality |
ORPHA:50810 |
Bullous Pemphigoid |
|
Weight loss, Urticaria, Erythema |
ORPHA:703 |
Poems Syndrome |
|
Polycythemia, Thrombocytosis, Restrictive ventilatory defect, Pleural effusion, Weight loss, Pulm... |
ORPHA:2905 |
Septopreoptic Holoprosencephaly |
|
Dysphagia, Hypoplasia of the pons, Abnormal midbrain morphology |
ORPHA:280195 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Respiratory distress, Failure to thrive, Exertional dyspnea, Anemia, Respiratory failure, Respira... |
OMIM:220110 |
Spinocerebellar Ataxia 48 |
|
Dysphagia, Cachexia |
OMIM:618093 |
Oculopharyngodistal Myopathy 1 |
|
Respiratory distress, Hypercapnia, Reduced forced vital capacity, Restrictive ventilatory defect,... |
OMIM:164310 |
Kasabach-Merritt Syndrome |
|
Respiratory distress, Petechiae, Hypopnea, Leukopenia, Reticulocytosis, Purpura, Neutropenia, Mic... |
ORPHA:2330 |
Graves Disease, Susceptibility To, 1 |
|
Polyphagia, Weight loss |
OMIM:275000 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Dysphagia, Weight loss, Aspiration pneumonia, Cough |
ORPHA:216866 |
Japanese Encephalitis |
|
Respiratory distress, Abnormal pons morphology, EEG abnormality, Neutrophilia, Irregular respirat... |
ORPHA:79139 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Urticaria, Flushing, Abnormal mast cell morphology, Neutrophilia, Leukocytosis, Splenomegaly, Mye... |
ORPHA:98849 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Cyanosis, Severe failure to thrive |
ORPHA:3304 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:2759 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Respiratory distress, Apnea, EEG abnormality, Aspiration pneumonia, Recurrent pneumonia, Hypovent... |
ORPHA:314655 |
Acquired Central Diabetes Insipidus |
|
Polydipsia, Weight loss |
ORPHA:95626 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Telangiectasia of the skin, Telangiectasia, Abnormal brainstem morphology |
ORPHA:79279 |
Congenital Enterovirus Infection |
|
Respiratory distress, Leukocytosis, Leukopenia, Abnormal macrophage morphology, Pleural effusion,... |
ORPHA:292 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Lymphocytosis, Eosinophilia, Interstitial pneumonitis, Erythema, Cough, Angioedema, Dyspnea, Weig... |
ORPHA:139402 |
Amoebiasis Due To Entamoeba Histolytica |
|
Leukocytosis, Pleural empyema, Cough, Weight loss, Pleural effusion, Dyspnea, Anemia |
ORPHA:67 |
X-Linked Agammaglobulinemia |
|
Failure to thrive, Sinusitis, Anemia, Recurrent pneumonia, Neutropenia, Weight loss, Thrombocytop... |
ORPHA:47 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Weight loss, Cutaneous photosensitivity |
ORPHA:312 |
Idiopathic Hypereosinophilic Syndrome |
|
Respiratory distress, Urticaria, Neutrophilia, Vasculitis in the skin, Cutis marmorata, Splenomeg... |
ORPHA:3260 |
Diaphanospondylodysostosis |
|
Respiratory distress |
ORPHA:66637 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Episodic tachypnea, Jaundice, Small for gestational age, Tachypnea, Pneumon... |
ORPHA:26793 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Decreased nerve conduction velocity, Tip-toe gait, Abnormal social behavior, Gait ataxia, Progres... |
ORPHA:309256 |
Moynahan Syndrome |
|
Cachexia |
ORPHA:2574 |
Multiple Carboxylase Deficiency |
|
Respiratory distress, Tachypnea |
ORPHA:148 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Respiratory insufficiency, Cyanosis, Sudden episodic apnea |
ORPHA:159 |
Myotonic Dystrophy 1 |
|
Dysphagia, Respiratory distress |
OMIM:160900 |
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Respiratory distress, Failure to thrive, EEG with burst suppression |
ORPHA:329178 |
Criss-Cross Heart |
|
Respiratory insufficiency, Cyanosis |
ORPHA:1461 |
Infantile Krabbe Disease |
|
Respiratory distress, Failure to thrive, Decreased nerve conduction velocity, Cachexia, Respirato... |
ORPHA:206436 |
Perry Syndrome |
|
Respiratory arrest, Central hypoventilation, Respiratory insufficiency, Weight loss, Hypoventilation |
OMIM:168605 |
Lymphatic Malformation 7 |
|
Respiratory distress, Anemia |
OMIM:617300 |
Systemic Capillary Leak Syndrome |
|
Leukocytosis, Cough, Rhinorrhea, Pleural effusion, Cardiorespiratory arrest, Weight loss |
ORPHA:188 |
Felty Syndrome |
|
Sinusitis, Rhinitis, Splenomegaly, Abnormal lymphocyte morphology, Weight loss, Recurrent pneumon... |
ORPHA:47612 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Respiratory distress, Respiratory insufficiency |
ORPHA:1145 |
Goodpasture Syndrome |
|
Increased DLCO, Cyanosis, Crackles, Tachypnea, Cough, Weight loss, Restrictive ventilatory defect... |
OMIM:233450 |
Al Amyloidosis |
|
Bruising susceptibility, Nonproductive cough, Weight loss, Dysphagia, Dyspnea, Anemia, Obstructiv... |
ORPHA:85443 |
Synaptic Congenital Myasthenic Syndromes |
|
Respiratory distress, Sleep apnea, Respiratory insufficiency, Neonatal respiratory distress, Dysp... |
ORPHA:98915 |
Acquired Purpura Fulminans |
|
Macular purpura, Thrombocytopenia, Acrocyanosis |
ORPHA:49566 |
Hereditary Angioedema Type 1 |
|
Respiratory distress, Urticaria, Dermatographic urticaria, Inspiratory stridor, Dysphagia, Dyspnea |
ORPHA:100050 |
Atrial Septal Defect, Ostium Secundum Type |
|
Airway obstruction, Cyanosis, Orthopnea, Breathing dysregulation, Pneumonia, Dyspnea, Exertional ... |
ORPHA:99103 |
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Respiratory distress, Granulocytopenia, Macrocytic anemia |
OMIM:606164 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress, Failure to thrive |
ORPHA:927 |
Lamb-Shaffer Syndrome |
|
Ataxia, Hyperactivity, Abnormal social behavior |
ORPHA:530983 |
Tetanus |
|
Dysphagia, Respiratory distress, Tachypnea |
ORPHA:3299 |
Castleman Disease |
|
Decreased mean corpuscular volume, Cough, Weight loss, Dyspnea, Anemia, Thrombocytopenia, Jaundice |
ORPHA:160 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Apnea, EEG abnormality, Leukocytosis, Leukopenia, Tachypnea, Thrombocytosis, Weight loss, Hypsarr... |
ORPHA:20 |
Lead Poisoning |
|
Asthma, Small for gestational age, Imbalanced hemoglobin synthesis, Abnormal respiratory system p... |
ORPHA:330015 |
Oculocerebrofacial Syndrome, Kaufman Type |
|
Respiratory distress, Failure to thrive, Respiratory failure, Dyspnea |
ORPHA:2707 |
Refractory Celiac Disease |
|
Increased proportion of HLA DR+ T cells, Normocytic anemia, Iron deficiency anemia, Macrocytic an... |
ORPHA:398063 |
Familial Acute Necrotizing Encephalopathy |
|
Abnormal pattern of respiration, Abnormal brainstem morphology, Abnormal brainstem MRI signal int... |
ORPHA:88619 |
Pfapa Syndrome |
|
Weight loss, Splenomegaly |
ORPHA:42642 |
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
|
Elongated superior cerebellar peduncle, Abnormal brainstem morphology |
ORPHA:370022 |
Waardenburg Syndrome Type 3 |
|
Acrocyanosis, Tracheomalacia |
ORPHA:896 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Respiratory distress, Failure to thrive, Pulmonary arterial hypertension |
OMIM:619272 |
Q Fever |
|
Respiratory distress, Splenomegaly, Hepatosplenomegaly, Cough, Weight loss, Purpura, Pneumonia, P... |
ORPHA:781 |
Unilateral Polymicrogyria |
|
Apnea, Pseudobulbar paralysis, Cyanosis, Giant somatosensory evoked potentials, Epistaxis |
ORPHA:268943 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Asthma, Polydipsia, Central hypoventilation, Cyanosis, Polyphagia, Abnormal midbrain morphology, ... |
ORPHA:293987 |
Atrial Septal Defect, Coronary Sinus Type |
|
Cyanosis, Pneumonia, Exertional dyspnea, Dyspnea, Pulmonary arterial hypertension, Increased pulm... |
ORPHA:99104 |
Brain-Lung-Thyroid Syndrome |
|
Respiratory distress, Failure to thrive, Asthma, Abnormal eating behavior, Recurrent pneumonia, A... |
ORPHA:209905 |
Loeffler Endocarditis |
|
Dyspnea, Eosinophilia, Weight loss, Cough |
ORPHA:75566 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Apnea, Cyanosis |
OMIM:619580 |
Juvenile Huntington Disease |
|
Weight loss |
ORPHA:248111 |
Stevens-Johnson Syndrome |
|
Erythema, Cough, Abnormality of neutrophils, Weight loss, Restrictive ventilatory defect, Dysphag... |
ORPHA:36426 |
Rett Syndrome |
|
Cachexia, Apnea, EEG abnormality, Intermittent hyperventilation |
OMIM:312750 |
Huntington Disease-Like 1 |
|
Weight loss, EEG abnormality |
ORPHA:157941 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Reduced subcutaneous adipose tissue, Cachexia, Weight loss, Premature graying of hair |
ORPHA:1979 |
Diamond-Blackfan Anemia 10 |
|
Respiratory distress, Steroid-responsive anemia, Macrocytic anemia, Anemia, Reticulocytopenia |
OMIM:613309 |
Craniofaciofrontodigital Syndrome |
|
Respiratory distress, Palmoplantar cutis laxa, Large for gestational age, Prominent superficial v... |
ORPHA:363705 |
Laryngotracheoesophageal Cleft Type 4 |
|
Cachexia, Respiratory insufficiency, Abnormality of the spleen |
ORPHA:93941 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Respiratory distress, Urticaria, Neutropenia in presence of anti-neutropil antibodies, Splenomega... |
ORPHA:37042 |
Hereditary Bullous Dystrophy, Macular Type |
|
Acrocyanosis, Pneumonia |
ORPHA:1867 |
Desmoplastic Small Round Cell Tumor |
|
Cachexia, Anemia, Weight loss |
ORPHA:83469 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Respiratory distress, Episodic tachypnea, Apneic episodes in infancy, Dyspnea, Intermittent hyper... |
ORPHA:348 |
Christianson Syndrome |
|
Dysphagia, Cachexia |
ORPHA:85278 |
Benign Recurrent Intrahepatic Cholestasis |
|
Weight loss, Jaundice |
ORPHA:65682 |
Nasolacrimal Duct Cyst |
|
Episodic respiratory distress, Intercostal retractions, Abnormal breath sound, Paroxysmal dyspnea... |
ORPHA:141083 |
Early-Onset Autosomal Dominant Alzheimer Disease |
|
Ataxia, Disinhibition, Abnormal social behavior |
ORPHA:1020 |
Hyperparathyroidism, Transient Neonatal |
|
Respiratory distress |
OMIM:618188 |
Polyarteritis Nodosa |
|
Cutis marmorata, Weight loss, Erythema |
ORPHA:767 |
Adult Krabbe Disease |
|
Abnormal pons morphology, EEG abnormality, Abnormal medulla oblongata morphology, Abnormal midbra... |
ORPHA:206448 |
Wolman Disease |
|
Cachexia, Anemia, Bone-marrow foam cells, Splenomegaly |
ORPHA:75233 |
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related |
|
HbH hemoglobin, Obesity, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:141750 |
Joubert Syndrome 2 |
|
Elongated superior cerebellar peduncle, Failure to thrive, Episodic tachypnea, Central apnea, Neo... |
OMIM:608091 |
Aicardi-Goutieres Syndrome 1 |
|
Petechiae, Splenomegaly, Erythema, Purpura, Prolonged neonatal jaundice, Thrombocytopenia, Acrocy... |
OMIM:225750 |
Joubert Syndrome 8 |
|
Hyperventilation, Obesity, Molar tooth sign on MRI, Prolonged neonatal jaundice |
OMIM:612291 |
Lujo Hemorrhagic Fever |
|
Respiratory distress, Lymphopenia, Rhinitis, Leukocytosis, Nonproductive cough, Leukopenia, Crack... |
ORPHA:319213 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Respiratory distress |
OMIM:617102 |
Chitayat Syndrome |
|
Respiratory distress, Tracheomalacia |
OMIM:617180 |
Beta-Ketothiolase Deficiency |
|
Oral aversion, Leukocytosis, Tachypnea, Cough, Thrombocytosis, Weight loss |
ORPHA:134 |
Attrv30M Amyloidosis |
|
Weight loss |
ORPHA:85447 |
Myotubular Myopathy With Abnormal Genital Development |
|
Respiratory distress, Neonatal death |
OMIM:300219 |
Odontochondrodysplasia |
|
Respiratory distress |
ORPHA:166272 |
Polymicrogyria Due To Tubb2B Mutation |
|
Hypoplasia of the pons, Abnormal brainstem morphology |
ORPHA:300573 |
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis |
|
Respiratory distress, Neutrophilia, Failure to thrive in infancy, Splenomegaly |
OMIM:612852 |
Focal Myositis |
|
Weight loss |
ORPHA:48918 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Olivopontocerebellar hypoplasia, Hypoplasia of the pons, Abnormal brainstem morphology, Hypoplasi... |
ORPHA:370959 |
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy |
|
Abnormal pons morphology, EEG with focal spike waves, Abnormal brainstem morphology |
ORPHA:370997 |
Ethylene Glycol Poisoning |
|
Abnormal pattern of respiration, Cyanosis, Episodic respiratory distress, Tachypnea |
ORPHA:31826 |
Mucopolysaccharidosis-Plus Syndrome |
|
Respiratory distress, Splenomegaly, Leukopenia, Recurrent pneumonia, Neutropenia, Anemia, Thrombo... |
OMIM:617303 |
Inflammatory Pseudotumor Of The Liver |
|
Weight loss |
ORPHA:90003 |
Osteootohepatoenteric Syndrome |
|
Failure to thrive, Asthma, Weight loss, Prolonged neonatal jaundice, Anemia |
OMIM:619377 |
Hirschsprung Disease |
|
Weight loss, Failure to thrive in infancy |
ORPHA:388 |
Juvenile Dermatomyositis |
|
Telangiectasia of the skin, Mucosal telangiectasiae, Erythema, Cough, Cutaneous photosensitivity,... |
ORPHA:93672 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Telangiectasia of the skin, Hemothorax, Lip telangiectasia, Fingerpad telangiectases, Tongue tela... |
OMIM:187300 |
Polycythemia Vera |
|
Bruising susceptibility, Splenomegaly, Epistaxis, Respiratory insufficiency, Pulmonary embolism, ... |
ORPHA:729 |
Spinocerebellar Ataxia, X-Linked 3 |
|
Dysphagia, Episodic respiratory distress, Episodic hypoventilation |
OMIM:301790 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Jaundice, Neonatal death |
OMIM:231680 |
Mercury Poisoning |
|
Respiratory distress, Dyspnea, Interstitial pneumonitis, Respiratory failure |
ORPHA:330021 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Emotional lability, Decreased nerve conduction velocity, Progressive gait ataxia, Abnormal social... |
ORPHA:309263 |
Tarp Syndrome |
|
Extramedullary hematopoiesis, Failure to thrive, Cyanosis, Apnea |
ORPHA:2886 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Urticaria, Purpura, Acrocyanosis, Erythema |
ORPHA:343 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Weight loss, Failure to thrive in infancy, Cough, Wheezing |
ORPHA:171876 |
Thymic Neuroendocrine Tumor |
|
Prominent veins on trunk, Weight loss, Abnormal breath sound, Cough |
ORPHA:97289 |
Fucosidosis |
|
Failure to thrive, Vascular skin abnormality, Acrocyanosis |
ORPHA:349 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory distress, Respiratory failure |
OMIM:617895 |
Flynn-Aird Syndrome |
|
Cachexia, EEG abnormality |
ORPHA:2047 |
Farber Disease |
|
Respiratory distress, Failure to thrive, Hepatosplenomegaly, Respiratory insufficiency, Anemia, T... |
ORPHA:333 |
Blackfan-Diamond Anemia |
|
Increased mean corpuscular volume, Neutropenia, Small for gestational age, Persistence of hemoglo... |
ORPHA:124 |
Pemphigus Vulgaris |
|
Weight loss, Urticaria |
ORPHA:704 |
Inflammatory Bowel Disease 11 |
|
Weight loss |
OMIM:191390 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Oral cavity telangiectasia, Polycythemia, Palmar telangiectasia, Cyanosis, Conjunctival telangiec... |
OMIM:600376 |
Rodrigues Blindness |
|
Nasal flaring, Ectodermal dysplasia |
OMIM:268320 |
Alternating Hemiplegia Of Childhood |
|
Respiratory distress, Failure to thrive, Flushing, Apnea, Aspiration, Dysphagia, Oral-pharyngeal ... |
ORPHA:2131 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Anemia, Weight loss, Neutrophilia |
ORPHA:54251 |
Episodic Ataxia Type 1 |
|
Respiratory distress |
ORPHA:37612 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory distress, Failure to thrive, Respiratory insufficiency, Respiratory failure requiring... |
ORPHA:308552 |
Hypercalcemia, Infantile, 1 |
|
Failure to thrive, Weight loss |
OMIM:143880 |
Absence Of The Pulmonary Artery |
|
Nonproductive cough, Cyanosis, Orthopnea, Recurrent pneumonia, Bronchiectasis, Dyspnea, Pulmonary... |
ORPHA:980 |
Inhalational Anthrax |
|
Respiratory distress, Dyspnea |
ORPHA:247257 |
Atrioventricular Septal Defect 3 |
|
Cyanosis, Pulmonary arterial hypertension |
OMIM:600309 |
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Cachexia, EEG abnormality, Severe failure to thrive, Obstructive sleep apnea |
ORPHA:371364 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Failure to thrive, Apnea, Splenomegaly, Cyanosis, Respiratory insufficiency, Respiratory failure |
OMIM:252010 |
Hemorrhagic Fever-Renal Syndrome |
|
Respiratory distress, Decreased body weight, Petechiae, Leukocytosis, Epistaxis, Cough, Ecchymosi... |
ORPHA:340 |
Peripheral Primitive Neuroectodermal Tumor |
|
Anemia, Weight loss, Jaundice, Abnormal superior cerebellar peduncle morphology |
ORPHA:370348 |
Mogs-Cdg |
|
Respiratory distress, Absent brainstem auditory responses, Apnea, Hepatosplenomegaly, Thrombocyto... |
ORPHA:79330 |
Mcdonough Syndrome |
|
Cachexia |
ORPHA:2471 |
Meckel Syndrome 14 |
|
Cardiorespiratory arrest, Cyanosis, Pneumothorax |
OMIM:619879 |
Non-Functioning Paraganglioma |
|
Weight loss, Flushing |
ORPHA:94080 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Cachexia, Decreased nerve conduction velocity |
ORPHA:1933 |
Congenital Tracheal Stenosis |
|
Respiratory distress, Neonatal asphyxia, Cyanosis, Wheezing, Upper airway obstruction, Dyspnea |
ORPHA:141127 |
Metachromatic Leukodystrophy, Adult Form |
|
Decreased nerve conduction velocity, Abnormal social behavior, Depression, Difficulty walking, Pr... |
ORPHA:309271 |
Polymyositis |
|
Exertional dyspnea, Weight loss, Respiratory insufficiency, Cough |
ORPHA:732 |
Generalized Epilepsy With Febrile Seizures-Plus |
|
Ataxia, Anxiety, EEG with spike-wave complexes |
ORPHA:36387 |
Bacterial Toxic-Shock Syndrome |
|
Respiratory distress, Increased circulating myelocyte count, Sinusitis, Tachypnea, Ecchymosis, Pn... |
ORPHA:36234 |
48,Xxxy Syndrome |
|
Abnormal social behavior, Anxiety, Attention deficit hyperactivity disorder, Abnormal aggressive,... |
ORPHA:96263 |
Neuromuscular Oculoauditory Syndrome |
|
Respiratory distress, Decreased amplitude of sensory action potentials, Decreased nerve conductio... |
OMIM:618733 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Bronchospasm, Facial telangiectasia, Dyspnea, Weight loss, Intermittent jaundice |
ORPHA:100085 |
Kaposi Sarcoma |
|
Weight loss, Abnormality of the spleen |
ORPHA:33276 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Failure to thrive, Cyanosis, Pulmonary arterial hypertension, Exertional dyspnea |
ORPHA:99050 |
Gm1 Gangliosidosis |
|
Failure to thrive, Oral aversion, Splenomegaly, Aspiration pneumonia, Hepatosplenomegaly, Dysphag... |
ORPHA:354 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Cachexia, Respiratory insufficiency |
OMIM:618186 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Decreased body weight, Abnormal brainstem MRI signal intensity, Pontocerebellar atrophy, Respirat... |
ORPHA:258 |
Odontochondrodysplasia 1 |
|
Respiratory distress |
OMIM:184260 |
Alveolar Echinococcosis |
|
Eosinophilia, Abnormal spleen morphology, Cough, Weight loss, Dyspnea, Anemia, Jaundice |
ORPHA:284 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Weight loss |
OMIM:266600 |
Medullary Thyroid Carcinoma |
|
Dysphagia, Weight loss |
ORPHA:1332 |
3-Methylglutaconic Aciduria, Type Viib |
|
Respiratory distress, Leukopenia, Recurrent pneumonia, Neutropenia, Thrombocytopenia |
OMIM:616271 |
Whipple Disease |
|
Polydipsia, Splenomegaly, Cachexia, Respiratory insufficiency, Cough, Anemia |
ORPHA:3452 |
Cronkhite-Canada Syndrome |
|
Cachexia, Anemia, Splenomegaly |
ORPHA:2930 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Respiratory distress |
OMIM:619383 |
Rare Circulatory System Disease |
|
Cyanosis |
ORPHA:98028 |
Mgat2-Cdg |
|
Respiratory distress, Failure to thrive, Impaired lymphocyte transformation with phytohemagglutin... |
ORPHA:79329 |
Congenital Fiber-Type Disproportion Myopathy |
|
Failure to thrive, Hypoxemia, Weakness of muscles of respiration, Aspiration pneumonia, Hypercapn... |
ORPHA:2020 |
Nodular Non-Suppurative Panniculitis |
|
Weight loss, Erythema, Splenomegaly |
ORPHA:33577 |
Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Hepatosplenomegaly, Weight loss, Hemophagocytosis |
ORPHA:86884 |
Slc35A2-Cdg |
|
EEG with focal epileptiform discharges, Atrophy/Degeneration affecting the brainstem, Abnormal mi... |
ORPHA:356961 |
Igg4-Related Aortitis |
|
Asthma, Weight loss, Hypereosinophilia |
ORPHA:449400 |
Cystic Echinococcosis |
|
Asthma, Urticaria, Eosinophilia, Splenic cyst, Weight loss, Jaundice |
ORPHA:400 |
Yao Syndrome |
|
Asthma, Weight loss |
OMIM:617321 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Respiratory distress, Megaloblastic anemia, Failure to thrive, Pulmonary embolism, Pulmonary arte... |
ORPHA:79282 |
Neuroendocrine Tumor Of Stomach |
|
Bronchospasm, Iron deficiency anemia, Facial telangiectasia, Dermatological manifestations of sys... |
ORPHA:100075 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Abnormality of neutrophils, Abnormal brainstem morphology, Hypochromic anemia |
ORPHA:2720 |
Secondary Short Bowel Syndrome |
|
Failure to thrive, Polyphagia, Weight loss |
ORPHA:95427 |
Histiocytoid Cardiomyopathy |
|
Failure to thrive, Cyanosis, Cough, Tachypnea |
ORPHA:137675 |
Leigh Syndrome |
|
Failure to thrive, Abnormal brainstem MRI signal intensity, Hypsarrhythmia, Neutropenia, Dysphagi... |
ORPHA:506 |
Diaphanospondylodysostosis |
|
Respiratory distress, Respiratory insufficiency, Tracheomalacia |
OMIM:608022 |
Erdheim-Chester Disease |
|
Polydipsia, Cough, Weight loss, Pleural effusion, Dyspnea, Anemia |
ORPHA:35687 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory distress, Failure to thrive, Sleep apnea, Respiratory insufficiency, Orthopnea, Dysph... |
ORPHA:365 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Cachexia, Exertional dyspnea |
ORPHA:42 |
Familial Thrombocytosis |
|
Chronic myelogenous leukemia, Splenomegaly, Thrombocytosis, Weight loss, Pulmonary arterial hyper... |
ORPHA:71493 |
Neuroblastoma, Susceptibility To, 1 |
|
Failure to thrive, Anemia, Weight loss |
OMIM:256700 |
Primary Intestinal Lymphangiectasia |
|
Lymphopenia, Reduced proportion of CD4+ effector memory T cells, Weight loss, Pleural effusion, A... |
ORPHA:90362 |
Klatskin Tumor |
|