Auditory Neuropathy, Autosomal Dominant 1 |
|
Abnormal auditory evoked potentials, Absence of acoustic reflex, Sensorineural hearing impairment... |
OMIM:609129 |
Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Absence of acoustic reflex, Sensorineural hearing impairment |
OMIM:601071 |
Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment, Abnormal vestib... |
OMIM:616515 |
Anencephaly 1 |
|
Spina bifida, Anencephaly |
OMIM:206500 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Cyanosis, Desquamative interstitial pneumonitis, Respiratory distress, Cough, Recurrent upper res... |
OMIM:263000 |
Apnea, Central Sleep |
|
Irregular respiration, Cyanosis, Sleep apnea, Abnormal pattern of respiration |
OMIM:207720 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Cyanosis, Desquamative interstitial pneumonitis, Absent bronchoalveolar surfactant-protein C, Par... |
OMIM:610921 |
Bronchopulmonary Dysplasia |
|
Tracheobronchomalacia, Hyperoxemia, Pulmonary sequestration, Abnormal respiratory system physiolo... |
ORPHA:70589 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Pulmonary arterial hypertension, Cyanosis, Intraalveolar phospholipid accumulation, Desquamative ... |
OMIM:265120 |
Fetal Cytomegalovirus Syndrome |
|
Anemia, Splenomegaly, Hepatomegaly |
ORPHA:294 |
Seizures, Benign Familial Infantile, 3 |
|
Apnea, Cyanosis |
OMIM:607745 |
Muscular Hypertonia, Lethal |
|
Pneumonia, Respiratory distress, Death in infancy |
OMIM:254120 |
Laryngotracheal Angioma |
|
Cyanosis, Intercostal retractions, Respiratory distress, Apnea, Cough, Stridor, Wheezing |
ORPHA:137935 |
Respiratory Distress Syndrome In Premature Infants |
|
Pulmonary edema, Respiratory distress, Dyspnea, Neonatal respiratory distress, Atelectasis, Tachy... |
OMIM:267450 |
Pulmonary Alveolar Proteinosis, Acquired |
|
Cyanosis, Intraalveolar phospholipid accumulation, Recurrent respiratory infections, Hypoxemia, L... |
OMIM:610910 |
Deafness, X-Linked 6 |
|
Incomplete partition of the cochlea, Bilateral sensorineural hearing impairment |
OMIM:300914 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Splenomegaly, Hepatomegaly |
ORPHA:2274 |
Emphysema, Congenital Lobar |
|
Respiratory distress |
OMIM:130710 |
Seizures, Benign Familial Infantile, 1 |
|
Apnea, Cyanosis |
OMIM:601764 |
Asbestos Intoxication |
|
Cyanosis, Abnormal pulmonary interstitial morphology, Exertional dyspnea, Late inspiratory crackl... |
ORPHA:2302 |
Phosphoserine Aminotransferase Deficiency |
|
Apnea, Cyanotic episode, Death in infancy |
OMIM:610992 |
Lethal Congenital Contracture Syndrome 3 |
|
Respiratory insufficiency, Neonatal death |
OMIM:611369 |
Congenital Lobar Emphysema |
|
Respiratory distress, Emphysema |
ORPHA:1928 |
Hypomyelination Neuropathy-Arthrogryposis Syndrome |
|
Respiratory distress |
ORPHA:2680 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory insufficiency, Cyanosis, Bronchiectasis, Desquamative interstitial pneumonitis, Decre... |
OMIM:610913 |
Mucus Inspissation Of Respiratory Tract |
|
Bronchiectasis, Chronic pulmonary obstruction, Chronic sinusitis, Recurrent respiratory infection... |
OMIM:253240 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Bronchiectasis, Respiratory distress, Abnormal mucociliary clearance, Recurrent respiratory infec... |
OMIM:619466 |
Immunodeficiency 95 |
|
Respiratory distress, Respiratory failure, Recurrent viral upper respiratory tract infections, Re... |
OMIM:619773 |
Opticocochleodentate Degeneration |
|
Cochlear degeneration, Hearing impairment, Optic atrophy |
OMIM:258700 |
Deafness, Autosomal Dominant 9 |
|
Postlingual sensorineural hearing impairment, Vertigo, Tinnitus, Cochlear degeneration, Abnormali... |
OMIM:601369 |
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome |
|
Acrocyanosis |
ORPHA:86918 |
Perching Syndrome |
|
Cyanosis, Respiratory distress |
OMIM:617055 |
Infant Acute Respiratory Distress Syndrome |
|
Cyanosis, Respiratory tract infection, Pulmonary edema, Nasal flaring, Hypoxemia, Respiratory fai... |
ORPHA:70587 |
Ciliary Dyskinesia, Primary, 21 |
|
Decreased nasal nitric oxide, Bronchiectasis, Chronic sinusitis, Recurrent pneumonia, Neonatal re... |
OMIM:615294 |
Ciliary Dyskinesia, Primary, 29 |
|
Decreased nasal nitric oxide, Bronchiectasis, Recurrent respiratory infections, Ciliary dyskinesi... |
OMIM:615872 |
Venular Insufficiency, Systemic |
|
Cyanosis |
OMIM:192700 |
Sulfhemoglobinemia, Congenital |
|
Cyanosis |
OMIM:185460 |
Emphysema, Hereditary Pulmonary |
|
Chronic bronchitis, Chronic pulmonary obstruction, Emphysema |
OMIM:130700 |
Pulmonary Blastoma |
|
Recurrent pneumonia, Dyspnea, Pleuropulmonary blastoma, Cough |
ORPHA:64741 |
Chronic Pneumonitis Of Infancy |
|
Cyanosis, Intercostal retractions, Hypoxemia, Reduced forced vital capacity, Respiratory distress... |
ORPHA:91359 |
Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Respiratory tract infection, Bronchiectasis, Hypoxemia, Reduced forced vital capacity, Reduced FE... |
ORPHA:1303 |
Deafness, Autosomal Dominant 77 |
|
Morphological abnormality of the inner ear, Sensorineural hearing impairment, Tinnitus |
OMIM:618915 |
Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
Isolated Congenital Hypoglossia/Aglossia |
|
Dyspnea, Upper airway obstruction, Aspiration pneumonia, Respiratory distress |
ORPHA:141152 |
Cryptogenic Organizing Pneumonia |
|
Cyanosis, Pneumothorax, Hypoxemia, Respiratory distress, Crackles, Restrictive ventilatory defect... |
ORPHA:1302 |
Familial Nasal Acilia |
|
Bronchiectasis, Respiratory distress, Chronic sinusitis, Chronic rhinitis, Dyspnea, Recurrent upp... |
ORPHA:922 |
Spina Bifida-Hypospadias Syndrome |
|
Spina bifida, Spinal dysraphism |
ORPHA:3176 |
Laryngotracheoesophageal Cleft |
|
Cyanosis, Aspiration, Cough, Dyspnea, Stridor, Neonatal respiratory distress, Recurrent respirato... |
ORPHA:2004 |
Recurrent Respiratory Papillomatosis |
|
Respiratory insufficiency, Respiratory distress, Recurrent pneumonia, Upper airway obstruction, D... |
ORPHA:60032 |
Severe Acute Respiratory Syndrome |
|
Hypoxemia, Respiratory distress, Dyspnea, Cough, Respiratory failure requiring assisted ventilati... |
ORPHA:140896 |
Spinocerebellar Ataxia, Autosomal Recessive 3 |
|
Cochlear degeneration, Hearing impairment |
OMIM:271250 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
3-Methylglutaconic aciduria, Splenomegaly |
OMIM:619813 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy |
OMIM:601382 |
Methemoglobinemia, Beta Type |
|
Cyanosis |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Cyanosis |
OMIM:617973 |
Bullous Dystrophy, Hereditary Macular Type |
|
Death in childhood, Acrocyanosis |
OMIM:302000 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Respiratory tract infection, Chronic bronchitis, Bronchiectasis, Honeycomb lung, Hypoxemia, Chron... |
ORPHA:79127 |
Acute Interstitial Pneumonia |
|
Cyanosis, Nodular pattern on pulmonary HRCT, Bronchiectasis, Subpleural honeycombing, Hypoxemia, ... |
ORPHA:79126 |
Pleural Mesothelioma |
|
Abnormal pleura morphology, Abnormal respiratory system physiology, Respiratory distress, Pleural... |
ORPHA:50251 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly, Elevated urinary delta-aminolevulinic acid |
OMIM:206400 |
Ciliary Dyskinesia, Primary, 33 |
|
Bronchiectasis, Recurrent bronchitis, Chronic rhinitis, Recurrent pneumonia, Cough, Recurrent low... |
OMIM:616726 |
Developmental And Epileptic Encephalopathy 30 |
|
Respiratory distress, Death in infancy |
OMIM:616341 |
Neutrophilia, Hereditary |
|
Neutrophilia, Splenomegaly |
OMIM:162830 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Hypoxemia, Respiratory distress, Tachypnea, Crackles, Restrictive ventilatory defect, Cough, Craz... |
ORPHA:264675 |
Cochleosaccular Degeneration-Cataract Syndrome |
|
Cochlear degeneration, Progressive sensorineural hearing impairment |
ORPHA:3233 |
Isolated Anencephaly/Exencephaly |
|
Anencephaly |
ORPHA:1048 |
Optic Atrophy 8 |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... |
OMIM:616648 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Cyanosis, Respiratory distress |
ORPHA:91130 |
Interstitial Lung Disease 2 |
|
Pulmonary arterial hypertension, Elevated bronchoalveolar lavage fluid neutrophil proportion, Exe... |
OMIM:178500 |
Hemoglobin H Disease |
|
Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hepatomegaly, Splenomegaly |
OMIM:613978 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Hepatomegaly, Persistence of hemoglobin F |
ORPHA:46532 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion |
OMIM:183350 |
Idiopathic Bronchiectasis |
|
Respiratory tract infection, Bronchiectasis, Productive cough, Abnormal respiratory system physio... |
ORPHA:60033 |
Stuve-Wiedemann Syndrome 2 |
|
Pulmonary arterial hypertension, Respiratory distress, Stillbirth, Death in adolescence, Neonatal... |
OMIM:619751 |
Interstitial Lung Disease 1 |
|
Intralobular septal thickening, Elevated bronchoalveolar lavage fluid neutrophil proportion, Elev... |
OMIM:619611 |
Congenital Pulmonary Lymphangiectasia |
|
Pulmonary arterial hypertension, Cyanosis, Respiratory distress, Chronic pulmonary obstruction, P... |
ORPHA:2414 |
Mantle Cell Lymphoma |
|
Lymphadenopathy, Splenomegaly |
ORPHA:52416 |
Succinic Acidemia |
|
Respiratory distress |
OMIM:600335 |
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Respiratory distress |
ORPHA:171703 |
Neuralgic Amyotrophy |
|
Respiratory insufficiency, Acrocyanosis |
ORPHA:2901 |
Ciliary Dyskinesia, Primary, 20 |
|
Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance, Recurrent sinusitis... |
OMIM:615067 |
Obesity-Hypoventilation Syndrome |
|
Cyanosis, Hypoventilation |
OMIM:257500 |
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
Enlarged vestibular aqueduct, Sensorineural hearing impairment, Incomplete partition of the cochl... |
OMIM:600791 |
Ravine Syndrome |
|
Abnormal auditory evoked potentials |
ORPHA:99852 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Recurrent pancreatitis, Splenomegaly |
OMIM:118830 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Cyanosis, Intraalveolar phospholipid accumulation, Hypoxemia, Crackles, Restrictive ventilatory d... |
ORPHA:747 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal motor evoked potentials, Abnormal auditory evoked potentials, Sensorineural hearing impa... |
ORPHA:320401 |
Cleft Larynx, Posterior |
|
Cyanosis, Aspiration |
OMIM:215800 |
Deafness, X-Linked 2 |
|
Stapes ankylosis, Conductive hearing impairment, Dilatated internal auditory canal, Progressive s... |
OMIM:304400 |
Primary Pulmonary Hypoplasia |
|
Cyanosis, Pneumothorax, Abnormal breath sound, Asthma, Hypoxemia, Pulmonary hypoplasia, Apnea, Re... |
ORPHA:2257 |
Deafness, Autosomal Recessive 109 |
|
Morphological abnormality of the semicircular canal, Congenital sensorineural hearing impairment |
OMIM:618013 |
Pulmonary Venoocclusive Disease 2, Autosomal Recessive |
|
Pulmonary arterial hypertension, Pulmonary capillary hemangiomatosis, Dyspnea, Cough, Pulmonary v... |
OMIM:234810 |
Gaucher Disease Type 2 |
|
Abnormal pattern of respiration, Cough, Respiratory distress, Recurrent respiratory infections |
ORPHA:77260 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:265430 |
Laryngomalacia |
|
Congenital laryngeal stridor, Respiratory distress |
OMIM:150280 |
Deafness, X-Linked 5, With Peripheral Neuropathy |
|
Abnormal middle ear reflexes, Abnormal speech discrimination, Vertigo, Cochlear nerve hypoplasia,... |
OMIM:300614 |
Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Apneic episodes precipitated by illness, fatigue, stress, Respiratory distress, Sudden episodic a... |
OMIM:254210 |
Hemoglobin D Disease |
|
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... |
ORPHA:90039 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Splenomegaly, Hepatomegaly |
OMIM:619175 |
Surfactant Metabolism Dysfunction, Pulmonary, 5 |
|
Respiratory insufficiency, Intraalveolar phospholipid accumulation, Exertional dyspnea, Dyspnea, ... |
OMIM:614370 |
Meconium Aspiration Syndrome |
|
Pulmonary arterial hypertension, Aspiration pneumonia, Pneumothorax, Hypoxemia, Respiratory distr... |
ORPHA:70588 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Elevated bronchoalveolar lavage fluid neutrophil proportion, Asthma, Hypoxemia, Respiratory distr... |
OMIM:610978 |
Choanal Atresia |
|
Cyanosis, Abnormal nasal mucus secretion, Respiratory distress, Chronic sinusitis, Upper airway o... |
ORPHA:137914 |
Congenital Diaphragmatic Hernia |
|
Pulmonary hypoplasia, Hypoxemia, Respiratory distress |
ORPHA:2140 |
Tracheobronchopathia Osteochondroplastica |
|
Respiratory insufficiency, Bronchitis, Exertional dyspnea, Productive cough, Recurrent respirator... |
ORPHA:3348 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he... |
OMIM:603902 |
Immunodeficiency 16 |
|
Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia |
OMIM:615593 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4 |
|
Apnea, Neonatal death, Pulmonary hypoplasia |
OMIM:615228 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Lymphocytosis, Splenomegaly, Hepatomegaly |
OMIM:606445 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Asthma, Hypoxemia, Pleural effusion, Crackles, Restrictive ventilatory defect, Dyspnea, Hypersens... |
ORPHA:2902 |
Alpha-1-Antitrypsin Deficiency |
|
Chronic bronchitis, Bronchiectasis, Chronic pulmonary obstruction, Cough, Dyspnea, Panacinar emph... |
OMIM:613490 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Recurrent bronchitis, Chronic sinusitis, Atelectasis |
OMIM:300455 |
Bardet-Biedl Syndrome 16 |
|
Bronchiolitis, Recurrent respiratory infections, Respiratory distress |
OMIM:615993 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Pneumothorax, Bronchiectasis, Respiratory distress, Chronic pulmonary obstruction, Pleural effusi... |
ORPHA:411703 |
Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Abnormal pulmonary interstitial morphology, Pulmonary hemorrhage, Hemosiderin-laden macrophages i... |
OMIM:616414 |
Pulmonary Capillary Hemangiomatosis |
|
Elevated pulmonary artery pressure, Cyanosis, Exertional dyspnea, Hemothorax, Pulmonary edema, Hy... |
ORPHA:199241 |
Tyrosinemia Type 1 |
|
Generalized aminoaciduria, Hepatocellular carcinoma, Splenomegaly, Hepatomegaly |
ORPHA:882 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Hearing impairment |
OMIM:601455 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231393 |
Trimethylaminuria |
|
Anemia, Neutropenia, Splenomegaly, Trimethylaminuria |
OMIM:602079 |
Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Anemia, Splenomegaly, Erythroid hyperplasia, Hepatomegaly, Thrombocytopen... |
OMIM:133180 |
Acute Lung Injury |
|
Abnormal pulmonary interstitial morphology, Hypoxemia, Respiratory distress, Diffuse alveolar hem... |
ORPHA:178320 |
Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Apneic episodes precipitated by illness, fatigue, stress, Respiratory distress, Sudden episodic a... |
OMIM:605809 |
Laryngeal Abductor Paralysis |
|
Cyanosis, Stridor |
OMIM:150260 |
Chromosome Xq21 Deletion Syndrome |
|
Incomplete partition of the cochlea, Hearing impairment, Conductive hearing impairment, Progressi... |
OMIM:303110 |
Branchiootic Syndrome 1 |
|
Sensorineural hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, M... |
OMIM:602588 |
Pendred Syndrome |
|
Cochlear malformation, Abnormal vestibular function, Congenital sensorineural hearing impairment |
OMIM:274600 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Respiratory distress |
OMIM:619099 |
Testicular Regression Syndrome |
|
Ambiguous genitalia, Decreased testicular size, Abnormal male internal genitalia morphology, Hypo... |
ORPHA:983 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Leukopenia, Anemia, Enlarged kidney, Hepatomegaly, Extramedullary hematopoiesis, Thrombocytopenia... |
OMIM:615285 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Hepatitis, Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemi... |
ORPHA:444463 |
Idiopathic Pulmonary Fibrosis |
|
Abnormal pulmonary interstitial morphology, Exertional dyspnea, Bronchiectasis, Honeycomb lung, R... |
ORPHA:2032 |
Hyperbilirubinemia, Shunt, Primary |
|
Jaundice, Erythroid hyperplasia, Reticulocytosis, Hepatomegaly, Anemia of inadequate production, ... |
OMIM:237800 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, EEG abnormality, Facial palsy |
OMIM:617519 |
Encephalopathy Due To Prosaposin Deficiency |
|
Splenomegaly, Hepatomegaly |
ORPHA:139406 |
46,Xy Sex Reversal 3 |
|
Ambiguous genitalia, Sex reversal, Penoscrotal hypospadias, Elevated circulating luteinizing horm... |
OMIM:612965 |
Immunodeficiency 42 |
|
Hypoplasia of the thymus, Splenomegaly, Hepatomegaly |
OMIM:616622 |
Severe X-Linked Mitochondrial Encephalomyopathy |
|
Respiratory insufficiency, Respiratory distress |
ORPHA:238329 |
46,Xy Sex Reversal 11 |
|
Urogenital sinus anomaly, Aplasia of the uterus, Elevated circulating follicle stimulating hormon... |
OMIM:273250 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia |
ORPHA:231242 |
Cardiomyopathy, Dilated, 1Gg |
|
Respiratory distress |
OMIM:613642 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment, Optic atrophy |
OMIM:125250 |
Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory failure, Dyspnea, Respiratory distress |
ORPHA:1832 |
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema |
|
Respiratory distress, Upper airway obstruction, Erythema, Angioedema, Urticaria |
ORPHA:100057 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive |
|
Respiratory distress, Lymphocytic interstitial pneumonia |
OMIM:245590 |
Staphylococcal Necrotizing Pneumonia |
|
Pneumothorax, Pleural empyema, Hypoxemia, Respiratory distress, Tachypnea, Pleural effusion, Pulm... |
ORPHA:36238 |
Immunodeficiency 104 |
|
Splenomegaly, Lymphadenopathy, T lymphocytopenia, Hepatomegaly |
OMIM:608971 |
Monosodium Glutamate Sensitivity |
|
Dyspnea, Flushing |
OMIM:231630 |
Cyanosis, Transient Neonatal |
|
Cyanosis, Jaundice |
OMIM:613977 |
Slc35A1-Cdg |
|
Pulmonary hemorrhage, Subcutaneous hemorrhage, Hypoxemia, Respiratory distress, Pneumonia |
ORPHA:238459 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Cyanosis, Central apnea |
ORPHA:71277 |
Deafness-Hypogonadism Syndrome |
|
Stapes ankylosis, Conductive hearing impairment, Abnormality of the middle ear ossicles, Enlarged... |
ORPHA:90646 |
Breath-Holding Spells |
|
Cyanosis |
OMIM:607578 |
Sarcoidosis, Susceptibility To, 2 |
|
Pulmonary arterial hypertension, Abnormal pulmonary interstitial morphology, Pneumothorax, Bronch... |
OMIM:612387 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly, Microcytic anemia, Recurrent tonsillitis |
OMIM:618852 |
Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Fetal ascites, Splenomegaly, Hepatomegaly |
OMIM:619462 |
Congenital Tracheomalacia |
|
Respiratory insufficiency, Cyanosis, Pneumothorax, Bronchiectasis, Productive cough, Pulmonary hy... |
ORPHA:95430 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Cyanosis, Exertional dyspnea |
OMIM:250800 |
Cryofibrinogenemia, Familial Primary |
|
Acrocyanosis |
OMIM:123540 |
Neonatal Severe Primary Hyperparathyroidism |
|
Aminoaciduria, Splenomegaly, Hepatomegaly |
ORPHA:417 |
Benign Familial Infantile Epilepsy |
|
Apnea, Cyanosis |
ORPHA:306 |
Abcd Syndrome |
|
Abnormal auditory evoked potentials, Aganglionic megacolon, Total intestinal aganglionosis, Heari... |
OMIM:600501 |
Galactose Epimerase Deficiency |
|
Aminoaciduria, Jaundice, Splenomegaly, Hepatomegaly |
ORPHA:79238 |
Usher Syndrome Type 3 |
|
Vestibular hypofunction, Sensorineural hearing impairment, Abnormal cochlea morphology |
ORPHA:231183 |
Autoimmune Hemolytic Anemia, Cold Type |
|
Splenomegaly, Abnormal leukocyte morphology, Hemolytic anemia |
ORPHA:228312 |
Congenital Laryngeal Web |
|
Respiratory distress, Stridor |
ORPHA:2374 |
Red Cell Phospholipid Defect With Hemolysis |
|
Intermittent jaundice, Splenomegaly, Reticulocytosis |
OMIM:179700 |
Mohr-Tranebjaerg Syndrome |
|
Postlingual sensorineural hearing impairment, Sensorineural hearing impairment, Prelingual sensor... |
ORPHA:52368 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Cyanosis, Exertional dyspnea, Restrictive ventilatory defect, Orthopnea, Reduced vital capacity, ... |
ORPHA:98913 |
Galactosemia Iii |
|
Aminoaciduria, Jaundice, Galactosuria, Hepatomegaly, Splenomegaly |
OMIM:230350 |
Mu-Heavy Chain Disease |
|
Anemia, Abnormal B cell count, Lymphadenopathy, Nephropathy, Hepatomegaly, Bence Jones Proteinuri... |
ORPHA:100024 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Respiratory insufficiency, Neonatal death, Bilateral lung agenesis |
OMIM:601612 |
Acquired Methemoglobinemia |
|
Dyspnea, Cyanosis, Hypoxemia, Respiratory distress |
ORPHA:464453 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Prolonged brainstem... |
OMIM:601596 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness |
OMIM:300580 |
Congenital Myopathy 10A, Severe Variant |
|
Respiratory insufficiency, Restrictive ventilatory defect, Respiratory distress, Respiratory failure |
OMIM:614399 |
Chronic Beryllium Disease |
|
Respiratory insufficiency, Reticulonodular pattern on pulmonary HRCT, Abnormal respiratory system... |
ORPHA:133 |
Allergic Bronchopulmonary Aspergillosis |
|
Respiratory insufficiency, Pulmonary arterial hypertension, Bronchiectasis, Asthma, Emphysema, Cough |
ORPHA:1164 |
Hypereosinophilic Syndrome, Idiopathic |
|
Hepatomegaly, Splenomegaly, Eosinophilia, Myeloproliferative disorder |
OMIM:607685 |
Surfactant Metabolism Dysfunction, Pulmonary, 4 |
|
Intraalveolar phospholipid accumulation, Reduced forced vital capacity, Restrictive ventilatory d... |
OMIM:300770 |
Hemochromatosis, Type 2B |
|
Hepatic fibrosis, Anemia, Cirrhosis, Hypogonadism, Hepatomegaly, Splenomegaly |
OMIM:613313 |
Usher Syndrome Type 1 |
|
Vestibular hypofunction, Sensorineural hearing impairment, Abnormal cochlea morphology |
ORPHA:231169 |
Sea-Blue Histiocyte Disease |
|
Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly, Cirrhosis |
OMIM:269600 |
Leydig Cell Hypoplasia |
|
Female hypogonadism, Testicular gonadoblastoma, Ambiguous genitalia, Hyoplasia of the Leydig cell... |
ORPHA:755 |
Deafness, Autosomal Recessive 118, With Cochlear Aplasia |
|
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear aplasia |
OMIM:619553 |
Hypoadrenocorticism, Familial |
|
Apnea, Cyanosis |
OMIM:240200 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatic steatosis, Hepatic fibrosis, Splenomegaly, Hepatomegaly |
OMIM:614480 |
Amyloidosis, Familial Visceral |
|
Nephrotic syndrome, Hematuria, Nephropathy, Cholestasis, Hepatomegaly, Proteinuria, Splenomegaly |
OMIM:105200 |
Deafness, Autosomal Dominant 80 |
|
Morphological abnormality of the semicircular canal, Dilated vestibule of the inner ear, Cochlear... |
OMIM:619274 |
Pulmonary Alveolar Microlithiasis |
|
Respiratory insufficiency, Cyanosis, Bronchitis, Respiratory tract infection, Pneumothorax, Exert... |
ORPHA:60025 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Jaundice, Cholestasis, Hepatomegaly, Proteinuria, Splenomegaly |
OMIM:620010 |
Mitochondrial Phosphate Carrier Deficiency |
|
Respiratory insufficiency, Cyanosis |
OMIM:610773 |
Immunodeficiency 69 |
|
Anemia, Pancytopenia, Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Splenomegaly |
OMIM:618963 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Respiratory insufficiency, Intraalveolar phospholipid accumulation, Death in infancy, Death in ad... |
OMIM:618042 |
Mast Cell Sarcoma |
|
Mastocytosis, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly |
ORPHA:66661 |
Alpha-Thalassemia |
|
Anemia, Splenomegaly, Hemolytic anemia, Hypersplenism, Jaundice, Abnormal hemoglobin, Cholelithia... |
ORPHA:846 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory insufficiency, Ventilator dependence with inability to wean, Respiratory distress, Re... |
ORPHA:254875 |
Immunodeficiency 48 |
|
Absence of CD8-positive T cells, Splenomegaly, Hepatomegaly |
OMIM:269840 |
Hereditary Methemoglobinemia |
|
Cyanosis, Exertional dyspnea |
ORPHA:621 |
Larsen-Like Syndrome, Lethal Type |
|
Respiratory insufficiency, Tracheomalacia, Neonatal death, Pulmonary hypoplasia |
OMIM:245650 |
Immunodeficiency 84 |
|
Splenomegaly, B lymphocytopenia |
OMIM:619437 |
Renal And Mullerian Duct Hypoplasia |
|
Anteriorly displaced urethral meatus, Hydrocele testis, Aplasia of the uterus, Horseshoe kidney, ... |
OMIM:266810 |
Anaplastic Thyroid Carcinoma |
|
Respiratory distress, Upper airway obstruction, Dyspnea, Cough, Stridor, Neoplasm of the lung |
ORPHA:142 |
Avian Influenza |
|
Pneumothorax, Productive cough, Hypoxemia, Respiratory distress, Miscarriage, Pleural effusion, D... |
ORPHA:454836 |
Nephronophthisis 19 |
|
Hepatic fibrosis, Stage 5 chronic kidney disease, Malformation of the hepatic ductal plate, Bile ... |
OMIM:616217 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Anemia, Hypoplasia of penis, Hypospadias, Abnormality of the ureter, Ascites, Splenomegaly |
ORPHA:1046 |
Splenoportal Vascular Anomalies |
|
Hepatic fibrosis, Cirrhosis, Anomalous splenoportal venous system, Ascites, Splenomegaly |
OMIM:271500 |
Combined Oxidative Phosphorylation Deficiency 30 |
|
Respiratory distress, Death in infancy |
OMIM:616974 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Portal hypertension, Portal vein thrombosis, Splenomegaly, Hepatomegaly |
OMIM:610293 |
Alpha-1-Antitrypsin Deficiency |
|
Jaundice, Emphysema |
ORPHA:60 |
Ciliary Dyskinesia, Primary, 2 |
|
Bronchiectasis, Immotile cilia, Respiratory distress, Sinusitis, Recurrent respiratory infections... |
OMIM:606763 |
Portal Hypertension, Noncirrhotic, 1 |
|
Portal hypertension, Splenomegaly, Hepatomegaly |
OMIM:617068 |
46,Xx Ovotesticular Disorder Of Sex Development |
|
Urogenital sinus anomaly, Ambiguous genitalia, Bifid scrotum, Abnormal male internal genitalia mo... |
ORPHA:2138 |
Tricuspid Atresia |
|
Cyanosis, Pulmonary artery atresia |
ORPHA:1209 |
Benign Familial Neonatal Epilepsy |
|
Apnea, Circumoral cyanosis |
ORPHA:1949 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Lymphadenopathy, Splenomegaly, Hepatomegaly |
ORPHA:86893 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Jaundice, Reticulocytosis, Cholelithiasis, Anemia of inadequate production, Splenomegaly |
OMIM:224100 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Splenomegaly, Hemolytic anemia, Lymphocytosis, Pancytopenia, Autoimmune thrombocytopenia, Follicu... |
OMIM:614470 |
X-Linked Centronuclear Myopathy |
|
Respiratory failure requiring assisted ventilation, Pneumonia, Respiratory distress, Recurrent re... |
ORPHA:596 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Anemia, Jaundice, Lymphadenopathy, Hemophagocytosis, Hepatomegaly, Thrombocytopenia, Neutropenia,... |
OMIM:603552 |
Nipah Virus Disease |
|
Cough, Respiratory distress, Recurrent pharyngitis |
ORPHA:99825 |
Immunodeficiency 52 |
|
Increased proportion of gamma-delta T cells, Coombs-positive hemolytic anemia, Decreased proporti... |
OMIM:617514 |
Immunodeficiency 76 |
|
T lymphocytopenia, B lymphocytopenia, Lymphopenia, Lymphadenopathy, Splenomegaly |
OMIM:619164 |
Pneumocystosis |
|
Respiratory insufficiency, Exertional dyspnea, Interstitial pneumonitis, Hypoxemia, Pleural effus... |
ORPHA:723 |
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Respiratory failure requiring assisted ventilation, Ventilator dependence with inability to wean,... |
ORPHA:254864 |
Myotubular Myopathy With Abnormal Genital Development |
|
Neonatal death, Respiratory distress, Atelectasis, Death in infancy |
OMIM:300219 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Anemia, Hypogonadism, Azoospermia, Poikilocytosis, Decreased mean corpuscular volume, Hepatomegal... |
OMIM:615234 |
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures |
|
Respiratory distress |
OMIM:617977 |
Malaria |
|
Respiratory distress |
ORPHA:673 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Absent brainstem auditory responses, Temporal optic disc pallor, Sensorineural hearing impairment... |
ORPHA:1215 |
Congenital Disorder Of Glycosylation, Type Iu |
|
Neonatal respiratory distress, Respiratory distress, Death in infancy |
OMIM:615042 |
Pulmonary Arteriovenous Malformation |
|
Pulmonary arterial hypertension, Cyanosis, Pulmonary hemorrhage, Telangiectasia, Hemothorax, Pleu... |
ORPHA:2038 |
Restrictive Dermopathy 2 |
|
Cyanosis, Respiratory distress |
OMIM:619793 |
Acrocraniofacial Dysostosis |
|
Abnormality of the outer ear, Abnormal auditory evoked potentials, Conductive hearing impairment,... |
OMIM:201050 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Anemia, Hypersplenism, Hepatomegaly, Thrombocytopenia, Splenomegaly |
OMIM:610539 |
Premature Ovarian Failure 7 |
|
Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Elevated circulating follicle... |
OMIM:612964 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Anemia, Jaundice, Erythroid hyperplasia, Reticulocytosis, Poikilocytosis, Anisocytosis, Hepatomeg... |
OMIM:615631 |
Ghosal Hematodiaphyseal Dysplasia |
|
Anemia, Splenomegaly |
ORPHA:1802 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
T lymphocytopenia, Increased proportion of transitional B cells, Lymphadenopathy, Decreased propo... |
OMIM:615513 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Increased B cell count, Splenomegaly |
OMIM:616452 |
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6 |
|
Paradoxical respiration, Respiratory distress, Recurrent acute respiratory tract infection |
OMIM:620011 |
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1 |
|
Premature graying of hair, Usual interstitial pneumonia, Reticular pattern on pulmonary HRCT, Cra... |
OMIM:614742 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Abnormal auditory evoked potentials, Hydrocephalus, Sensorineural hearing impairment |
OMIM:109120 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Gonadoblastoma, Abnormality of female external genitalia, Male hypogonadism, Increased circulatin... |
ORPHA:168563 |
Thyroid Lymphoma |
|
Upper airway obstruction, Dyspnea, Respiratory distress, Stridor |
ORPHA:97285 |
Hemochromatosis, Type 2A |
|
Cirrhosis, Azoospermia, Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly |
OMIM:602390 |
Congenital Disorder Of Glycosylation, Type Iy |
|
Respiratory distress |
OMIM:300934 |
Alpha-Heavy Chain Disease |
|
Anemia, Lymphadenopathy, Hepatomegaly, Ascites, Splenomegaly |
ORPHA:100025 |
Gray Platelet Syndrome |
|
Thrombocytopenia, Splenomegaly |
ORPHA:721 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Asplenia, Splenomegaly, HbS hemoglobin, Reticulocytosis, Persistence of hemoglobin F, Hypochromic... |
ORPHA:251380 |
Hemoglobin E Disease |
|
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Hypochromi... |
ORPHA:2133 |
Pendred Syndrome |
|
Sensorineural hearing impairment, Hypoplasia of the cochlea, Enlarged vestibular aqueduct, Abnorm... |
ORPHA:705 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Respiratory failure, Paroxysmal dyspnea, Stridor, Cyanosis |
ORPHA:444013 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Cirrhosis, Jaundice, Biliary tract abnormality, Neonatal cholestatic liver disease, Hepatomegaly,... |
ORPHA:79301 |
Auriculocondylar Syndrome 2 |
|
Apnea, Snoring, Respiratory distress |
OMIM:614669 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress |
ORPHA:26792 |
Amed Syndrome, Digenic |
|
Acute myeloid leukemia, Leukopenia, Anemia, Bone marrow hypocellularity, Thrombocytopenia, Hypopl... |
OMIM:619151 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Cirrhosis, Anemia, Jaundice, Erythroid hyperplasia, Hepatosplenomegaly, Decreased mean corpuscula... |
OMIM:616860 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia, Splenomegaly, Microcytic anemia |
ORPHA:231401 |
Follicular Lymphoma |
|
Splenomegaly, Lymphadenopathy, Abnormality of the peritoneum, Mediastinal lymphadenopathy |
ORPHA:545 |
Hydatidiform Mole |
|
Anemia, Enlarged uterus |
ORPHA:99927 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Cyanosis, Recurrent lower respiratory tract infections, Death in infancy, Respiratory distress, A... |
OMIM:618426 |
Bronchogenic Cyst |
|
Abnormal pleura morphology, Pulmonary cyst, Dyspnea, Cough, Bronchogenic cyst, Pneumonia, Atelect... |
ORPHA:2357 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased B cell count, Nephrotic syndrome, Stage 5 chronic kidney disease, Generalized lymphaden... |
OMIM:615559 |
Mitochondrial Pyruvate Carrier Deficiency |
|
Respiratory distress |
OMIM:614741 |
Epidermodysplasia Verruciformis, Susceptibility To, 4 |
|
Facial erythema, Emphysema |
OMIM:618307 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Hepatic fibrosis, Jaundice, Hepatic bridging fibrosis, Cholestasis, Splenomegaly |
OMIM:619658 |
Chitayat Syndrome |
|
Tracheomalacia, Abnormal pulmonary interstitial morphology, Recurrent respiratory infections, Res... |
OMIM:617180 |
Progressive Familial Intrahepatic Cholestasis |
|
Splenomegaly, Jaundice, Cholestasis, Hepatomegaly |
ORPHA:172 |
Spherocytosis, Type 5 |
|
Hemolytic anemia, Jaundice, Reticulocytosis, Abnormal platelet count, Abnormal leukocyte count, S... |
OMIM:612690 |
Complete Androgen Insensitivity Syndrome |
|
Bilateral cryptorchidism, Aplasia of the uterus, Abnormal uterine cervix morphology, Aplasia/Hypo... |
ORPHA:99429 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Anemia, Hepatosplenomegaly, Lymphadenopathy, Hemophagocytosis, Thrombocytopenia, Splenomegaly |
OMIM:613101 |
Waardenburg Syndrome Type 3 |
|
Tracheomalacia, Acrocyanosis, Atelectasis |
ORPHA:896 |
Congenital Myasthenic Syndrome |
|
Cyanosis, Episodic respiratory distress, Central sleep apnea, Intermittent episodes of respirator... |
ORPHA:590 |
Presynaptic Congenital Myasthenic Syndromes |
|
Cyanosis, Episodic respiratory distress, Central sleep apnea, Intermittent episodes of respirator... |
ORPHA:98914 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Pulmonary hypoplasia, Respiratory distress |
OMIM:616733 |
Androgen Insensitivity Syndrome |
|
Ambiguous genitalia, male, Abnormality of the uterus, Male pseudohermaphroditism, Aplasia/Hypopla... |
ORPHA:754 |
Acquired Idiopathic Sideroblastic Anemia |
|
Acute myeloid leukemia, Neutropenia, Megaloblastic erythroid hyperplasia, Granulocytopenia, Normo... |
ORPHA:75564 |
Thrombocythemia 1 |
|
Splenomegaly, Thrombocytosis |
OMIM:187950 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Anemia, Congenital hemolytic anemia, Reticulocytosis, Poikilocytosis, Abnormal erythrocyte morpho... |
ORPHA:766 |
Ovarian Dysgenesis 7 |
|
Hypoplasia of the uterus |
OMIM:618117 |
Diethylstilbestrol Syndrome |
|
Abnormal testis morphology, Vaginal neoplasm, Epididymal cyst, Abnormality of the uterus, Hypospa... |
ORPHA:1916 |
Partial Androgen Insensitivity Syndrome |
|
Urogenital sinus anomaly, Ambiguous genitalia, Aplasia of the ovary, Bifid scrotum, Fused labia m... |
ORPHA:90797 |
Lethal Recessive Chondrodysplasia |
|
Respiratory distress |
ORPHA:1423 |
Congenital Disorder Of Glycosylation, Type Ix |
|
Death in childhood, Respiratory distress |
OMIM:615597 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Decreased proportion of marginal zone B cells, Coombs-positive hemolytic anemia, Autoimmune throm... |
OMIM:619375 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Bronchiolitis, Pulmonary fibrosis, Exertional dyspnea, Atelectasis |
ORPHA:254361 |
Isolated Anencephaly |
|
Thymus hyperplasia |
ORPHA:563609 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness |
OMIM:613561 |
Harderoporphyria |
|
Increased urine harderoporphyrin level, Hemolytic anemia, Red urine, Reticulocytosis, Hepatomegal... |
OMIM:618892 |
Immunodeficiency 64 With Lymphoproliferation |
|
Decreased proportion of CD4-positive T cells, Hepatosplenomegaly, Autoimmune thrombocytopenia, In... |
OMIM:618534 |
Beta-Thalassemia |
|
Anemia, Hepatitis, Hepatomegaly, Cholelithiasis, Hypogonadotropic hypogonadism, Thrombocytopenia,... |
ORPHA:848 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Respiratory insufficiency, Nocturnal hypoventilation, Respiratory distress, Dyspnea, Stridor, Rec... |
OMIM:211530 |
Testicular Agenesis |
|
Urogenital sinus anomaly, Ambiguous genitalia, Absent external genitalia, Urethrovaginal fistula,... |
ORPHA:325124 |
Ataxia-Pancytopenia Syndrome |
|
Acute myelomonocytic leukemia, Abnormal macrophage morphology, Pancytopenia, Abnormality of neutr... |
ORPHA:2585 |
Erythrocytosis, Familial, 8 |
|
Increased hematocrit, Splenomegaly, Increased hemoglobin, Polycythemia |
OMIM:222800 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Respiratory distress |
ORPHA:240085 |
Branchiogenic Deafness Syndrome |
|
Conductive hearing impairment, Sensorineural hearing impairment, Abnormality of the middle ear os... |
ORPHA:50815 |
Bare Lymphocyte Syndrome, Type I |
|
Bronchiectasis, Recurrent bronchitis, Chronic sinusitis, Emphysema, Bronchiolitis |
OMIM:604571 |
Idiopathic Neonatal Atrial Flutter |
|
Respiratory distress, Tachypnea |
ORPHA:45452 |
Ovarian Dysgenesis 6 |
|
Hypergonadotropic hypogonadism, Hypoplasia of the uterus |
OMIM:618078 |
Ovarian Dysgenesis 5 |
|
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... |
OMIM:617690 |
N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress |
OMIM:237310 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Nephrotic syndrome, Nephrocalcinosis, Hematuria, Distal renal tubular acidosis, Proximal renal tu... |
OMIM:146255 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Abnormal auditory evoked potentials, Optic disc pallor, Sensorineural hearing impairment, Cervica... |
OMIM:619260 |
Myopathy And Diabetes Mellitus |
|
Respiratory distress |
ORPHA:2596 |
Bor Syndrome |
|
Hypoplasia of the cochlea, Abnormality of the middle ear ossicles, Facial palsy, Enlarged cochlea... |
ORPHA:107 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory insufficiency, Death in infancy, Respiratory distress, Respiratory failure, Tachypnea |
OMIM:614299 |
Cholestasis-Lymphedema Syndrome |
|
Cirrhosis, Jaundice, Neonatal cholestatic liver disease, Hepatomegaly, Splenomegaly |
OMIM:214900 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Jaundice, Acholic stools, Portal fibrosis, Hepatomegaly, Splenomegaly |
OMIM:619868 |
Ovarian Dysgenesis 2 |
|
Streak ovary, Hypergonadotropic hypogonadism, Hypoplasia of the uterus |
OMIM:300510 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Abnormal auditory evoked potentials, Optic disc pallor |
OMIM:617523 |
Perrault Syndrome 3 |
|
Streak ovary, Elevated circulating luteinizing hormone level, Hypergonadotropic hypogonadism, Ele... |
OMIM:614129 |
Cholestasis-Lymphedema Syndrome |
|
Cirrhosis, Jaundice, Acholic stools, Biliary tract abnormality, Neonatal cholestatic liver diseas... |
ORPHA:1414 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory failure, Recurrent respiratory infections, Dyspnea, Respiratory distress |
ORPHA:2759 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Genital ulcers, B lymphocytopenia, Generalized lymphadenopathy, Lymphopenia, Abnormally low T cel... |
OMIM:602450 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Gonadoblastoma, Renal insufficiency, Abnormality of the uterus, Hypospadias, Nephropathy, Cryptor... |
OMIM:194072 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Jaundice, Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Fibro-obliterative ... |
OMIM:619849 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Decreased testicular size, Hypoplasia of the ovary, Cryptorchidism, Hypogonadotropic hypogonadism... |
OMIM:614841 |
Diaphanospondylodysostosis |
|
Respiratory distress |
ORPHA:66637 |
Peripheral Motor Neuropathy-Dysautonomia Syndrome |
|
Acrocyanosis |
ORPHA:2400 |
Buerger Disease |
|
Acrocyanosis |
ORPHA:36258 |
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome |
|
Cochlear degeneration, Hearing impairment, Optic atrophy |
ORPHA:95433 |
Immunodeficiency 27A |
|
Anemia, Hepatosplenomegaly, Lymphadenopathy, Thrombocytosis, Leukocytosis, Histiocytosis, Enlarge... |
OMIM:209950 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatic fibrosis, Jaundice, Portal fibrosis, Hepatomegaly, Iron deficiency anemia, Portal hyperte... |
OMIM:616278 |
Felty Syndrome |
|
Neutropenia, Splenomegaly |
OMIM:134750 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Dyspnea, Respiratory distress, Cough |
ORPHA:86812 |
X-Linked Sideroblastic Anemia |
|
Anemia, Splenomegaly |
ORPHA:75563 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular hemoglobin concentration, Hemolytic anemia, Jaundice, Anisopoikilocyto... |
OMIM:616689 |
Congenital Tricuspid Valve Dysplasia |
|
Cyanosis, Hypoxemia, Anomalous pulmonary venous return, Respiratory failure, Respiratory failure ... |
ORPHA:555874 |
Mullerian Aplasia And Hyperandrogenism |
|
Aplasia of the vagina, Unilateral renal agenesis, Aplasia of the fallopian tube, Aplasia of the u... |
OMIM:158330 |
Crouzon Syndrome |
|
Conductive hearing impairment, Narrow internal auditory canal, Optic atrophy, Hydrocephalus, Hear... |
ORPHA:207 |
Ornithine Transcarbamylase Deficiency |
|
Aminoaciduria, Splenomegaly |
ORPHA:664 |
Primary Ciliary Dyskinesia |
|
Respiratory tract infection, Respiratory failure, Bronchiectasis, Productive cough, Peribronchova... |
ORPHA:244 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Abnormal lymph node morphology, Anemia, Hepatosplenomegaly, Leukocytosis, Extramedullary hematopo... |
OMIM:612840 |
Aprosencephaly Syndrome |
|
Anencephaly, Aprosencephaly |
OMIM:207770 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Respiratory distress |
OMIM:612075 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Splenomegaly, Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Thrombocytopen... |
OMIM:314050 |
Premature Ovarian Failure 13 |
|
Elevated circulating follicle stimulating hormone level, Hypoplasia of the uterus |
OMIM:617442 |
Proteus-Like Syndrome |
|
Abnormality of the parathyroid gland, Polycystic ovaries, Thymus hyperplasia, Splenomegaly |
ORPHA:2969 |
Matthew-Wood Syndrome |
|
Vesicoureteral reflux, Aplasia/Hypoplasia of the pancreas, Abnormal spleen morphology, Abnormalit... |
ORPHA:2470 |
46,Xy Sex Reversal 7 |
|
Abnormal epididymis morphology, Gonadoblastoma, Gonadal dysgenesis, male, Sex reversal, Hypoplasi... |
OMIM:233420 |
Pfapa Syndrome |
|
Lymphadenopathy, Splenomegaly, Hepatomegaly |
ORPHA:42642 |
Autoimmune Lymphoproliferative Syndrome |
|
Chronic noninfectious lymphadenopathy, Coombs-positive hemolytic anemia, Neutropenia in presence ... |
OMIM:601859 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Anemia, Reduced natural killer cell count, Prostate cancer, Acute lymphob... |
ORPHA:158057 |
Cholesteryl Ester Storage Disease |
|
Jaundice, Cirrhosis, Splenomegaly, Hepatomegaly |
ORPHA:75234 |
Neurogenic Arthrogryposis Multiplex Congenita |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness |
ORPHA:1143 |
Glycogen Storage Disease Ixb |
|
Increased hepatic glycogen content, Splenomegaly, Hepatomegaly |
OMIM:261750 |
Premature Ovarian Failure 6 |
|
Streak ovary, Elevated circulating luteinizing hormone level, Elevated circulating follicle stimu... |
OMIM:612310 |
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Pulmonary arterial hypertension, Abnormal pulmonary interstitial morphology, Intraalveolar phosph... |
ORPHA:217563 |
Birt-Hogg-Dubé Syndrome |
|
Pulmonary sequestration, Pneumothorax, Emphysema |
ORPHA:122 |
Osteopetrosis, Autosomal Dominant 3 |
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Hyperparathyroidism, Anemia, Splenomegaly, Hepatomegaly |
OMIM:618107 |
Tetrasomy 5P |
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Pulmonary arterial hypertension, Cyanosis, Pulmonary hypoplasia, Respiratory distress, Recurrent ... |
ORPHA:3309 |
Folinic Acid-Responsive Seizures |
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Apnea, Respiratory distress |
ORPHA:79097 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
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Apnea, Cyanosis |
OMIM:261680 |
Cold Agglutinin Disease |
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Hemolytic anemia, Lymphadenopathy, Abnormal urinary color, Hepatomegaly, Splenomegaly |
ORPHA:56425 |
Complete Atrioventricular Septal Defect |
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Elevated pulmonary artery pressure, Cyanosis, Intercostal retractions, Crackles, Recurrent pneumo... |
ORPHA:1329 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
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Decreased testicular size, Azoospermia, Cryptorchidism, Hypogonadotropic hypogonadism, Micropenis... |
OMIM:614837 |
Thrombocytopenia, Anemia, And Myelofibrosis |
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Anemia, Thrombocytopenia, Anisopoikilocytosis, Splenomegaly |
OMIM:617441 |
Premature Ovarian Failure 18 |
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Hypoplasia of the ovary, Elevated circulating follicle stimulating hormone level, Elevated circul... |
OMIM:619203 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
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Splenomegaly, Normocytic anemia, Jaundice, Reticulocytosis, Cholecystitis, Nonspherocytic hemolyt... |
OMIM:235700 |
Odontochondrodysplasia |
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Respiratory distress, Death in infancy |
ORPHA:166272 |
Ovarian Dysgenesis 9 |
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Hypoplasia of the ovary, Elevated circulating follicle stimulating hormone level, Elevated circul... |
OMIM:619665 |
Indolent Systemic Mastocytosis |
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Mastocytosis, Lymphadenopathy, Increased proportion of CD25+ mast cells, Hepatomegaly, Abnormal m... |
ORPHA:98848 |
Fish-Eye Disease |
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Lymphadenopathy, Splenomegaly, Hepatomegaly |
ORPHA:79292 |
Lipodystrophy, Congenital Generalized, Type 3 |
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Hepatic steatosis, Splenomegaly, Hepatomegaly, Hepatosplenomegaly |
OMIM:612526 |
Tularemia |
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Pleural effusion, Pneumonia, Cough, Respiratory distress |
ORPHA:3392 |
Premature Ovarian Failure 3 |
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Hypoplasia of the uterus |
OMIM:608996 |
Cryohydrocytosis |
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Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis |
OMIM:185020 |
Lymphoproliferative Syndrome 2 |
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Pancytopenia, Hepatosplenomegaly, Lymphadenopathy, Hemophagocytosis, Hepatomegaly, Ascites, Aplas... |
OMIM:615122 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
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Respiratory distress |
ORPHA:240103 |
Isolated Right Ventricular Hypoplasia |
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Dyspnea, Cyanosis, Hypoxemia |
ORPHA:439 |
Overhydrated Hereditary Stomatocytosis |
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Intermittent jaundice, Stomatocytosis, Hemolytic anemia, Abnormal mean corpuscular volume, Decrea... |
ORPHA:3203 |
Congenital Tracheal Stenosis |
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Cyanosis, Anomalous origin of left pulmonary artery from ascending aorta, Abnormal lung lobation,... |
ORPHA:141127 |
Chronic Myeloid Leukemia |
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Abnormal granulocyte morphology, Abnormal basophil morphology, Thrombocytosis, Leukocytosis, Myel... |
ORPHA:521 |
Beta-Thalassemia Intermedia |
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Cholelithiasis, Cirrhosis, Proximal tubulopathy, Abnormality of the liver, Hypogonadism, Increase... |
ORPHA:231222 |
Sepsis In Premature Infants |
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Cyanosis, Petechiae, Nasal flaring, Jaundice, Abnormal respiratory system physiology, Purpura, Dy... |
ORPHA:90051 |
Sclerosing Cholangitis, Neonatal |
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Vesicoureteral reflux, Biliary cirrhosis, Cirrhosis, Sclerosing cholangitis, Jaundice, Acholic st... |
OMIM:617394 |
Atrial Septal Defect, Ostium Primum Type |
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Pulmonary arterial hypertension, Cyanosis, Exertional dyspnea, Abnormal respiratory system physio... |
ORPHA:99106 |
Chiari Malformation Type Ii |
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Cyanosis, Inspiratory stridor |
OMIM:207950 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
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Decreased CD4:CD8 ratio, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly, Splenomegaly |
OMIM:618495 |
Hypoglossia With Situs Inversus |
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Upper airway obstruction, Respiratory distress |
OMIM:612776 |
Sea-Blue Histiocytosis |
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Sea-blue histiocytosis, Hepatomegaly, Mediastinal lymphadenopathy, Thrombocytopenia, Splenomegaly |
ORPHA:158029 |
Polycythemia Vera |
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Increased red blood cell mass, Increased hematocrit, Thrombocytosis, Leukocytosis, Thrombocytopen... |
OMIM:263300 |
Cutis Laxa, Neonatal, With Marfanoid Phenotype |
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Emphysema |
OMIM:614100 |
Perrault Syndrome 6 |
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Streak ovary, Hypoplasia of the uterus |
OMIM:617565 |
Portal Hypertension, Noncirrhotic, 2 |
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Nodular regenerative hyperplasia of liver, Hepatocellular carcinoma, Thrombocytopenia, Hepatomega... |
OMIM:619463 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
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Cirrhosis, Jaundice, Portal inflammation, Portal fibrosis, Intrahepatic cholestasis, Bile duct pr... |
OMIM:602347 |
Osteopetrosis, Autosomal Recessive 8 |
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Anemia, Thrombocytopenia, Splenomegaly, Hepatomegaly |
OMIM:615085 |
Anemia, Congenital Dyserythropoietic, Type Iv |
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Splenomegaly, Anemia, Reduced hematocrit, Hemolytic anemia, Circulating nucleated red blood cells... |
OMIM:613673 |
Spherocytosis, Type 4 |
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Hemolytic anemia, Jaundice, Reticulocytosis, Splenomegaly, Spherocytosis |
OMIM:612653 |
Odontochondrodysplasia 1 |
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Pulmonary hypoplasia, Recurrent respiratory infections, Respiratory distress, Death in infancy |
OMIM:184260 |
Overhydrated Hereditary Stomatocytosis |
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Stomatocytosis, Hemolytic anemia, Jaundice, Reticulocytosis, Hepatomegaly, Splenomegaly |
OMIM:185000 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
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Narrow internal auditory canal, Holoprosencephaly, Low-set, posteriorly rotated ears, Synotia, Ab... |
ORPHA:990 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
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Irregular respiration, Inspiratory stridor, Respiratory distress, Death in infancy |
OMIM:604377 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
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B lymphocytopenia, Lymphadenopathy, Abnormal CD4:CD8 ratio, Neutropenia, Intermittent thrombocyto... |
OMIM:150550 |
Branchiootorenal Syndrome 1 |
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Conductive hearing impairment, Sensorineural hearing impairment, Incomplete partition of the coch... |
OMIM:113650 |
Adams-Oliver Syndrome 6 |
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Portal hypertension, Hepatic fibrosis, Renal hypoplasia, Splenomegaly |
OMIM:616589 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
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Bicornuate uterus, Azoospermia, Unilateral renal agenesis, Ectopic kidney, Hypoplasia of the uterus |
OMIM:601076 |
Encephalopathy, Ethylmalonic |
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Acrocyanosis, Petechiae, Death in infancy |
OMIM:602473 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
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Vesicoureteral reflux, Polycystic kidney dysplasia, Unilateral renal agenesis, Vaginal atresia, P... |
ORPHA:2237 |
Multiple Carboxylase Deficiency |
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Respiratory distress, Tachypnea |
ORPHA:148 |
Congenitally Uncorrected Transposition Of The Great Arteries |
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Cyanosis, Anomalous pulmonary venous return, Hypoxemia, Tachypnea |
ORPHA:860 |
Spherocytosis, Type 1 |
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Hemolytic anemia, Jaundice, Reticulocytosis, Cholelithiasis, Splenomegaly, Spherocytosis |
OMIM:182900 |
Atrial Septal Defect, Coronary Sinus Type |
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Pulmonary arterial hypertension, Cyanosis, Exertional dyspnea, Increased pulmonary vascular resis... |
ORPHA:99104 |
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome |
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Splenomegaly, Pancytopenia |
OMIM:614979 |
Hepatoportal Sclerosis |
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Nodular regenerative hyperplasia of liver, Leukopenia, Anemia, Periportal fibrosis, Hypersplenism... |
ORPHA:64743 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
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Jaundice, Neonatal death, Respiratory distress, Pulmonary hypoplasia |
OMIM:231680 |
Triosephosphate Isomerase Deficiency |
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Respiratory insufficiency, Death in infancy, Jaundice, Respiratory distress, Death in adolescence... |
OMIM:615512 |
Spherocytosis, Type 2 |
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Hemolytic anemia, Jaundice, Reticulocytosis, Splenomegaly, Acanthocytosis, Spherocytosis |
OMIM:616649 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
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Precocious puberty in females, Increased urinary 11-deoxycorticosterone level, Adrenocorticotropi... |
ORPHA:90793 |
Pulmonary Hypertension, Primary, 1 |
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Pulmonary arterial hypertension, Telangiectasia, Pulmonary arterial medial hypertrophy, Pulmonary... |
OMIM:178600 |
Immunodeficiency 54 |
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Reduced natural killer cell count, Adrenocorticotropic hormone excess, Lymphadenopathy, Hepatomeg... |
OMIM:609981 |
Criss-Cross Heart |
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Respiratory insufficiency, Cyanosis |
ORPHA:1461 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
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T lymphocytopenia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Autoi... |
ORPHA:231154 |
Craniorachischisis |
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Spinal dysraphism, Myelomeningocele, Anencephaly, Sirenomelia, Cervical spina bifida |
ORPHA:63260 |
Immunodeficiency, Common Variable, 1 |
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B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Lymphadenopathy, Decreas... |
OMIM:607594 |
Hemochromatosis, Type 1 |
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Cirrhosis, Azoospermia, Hepatocellular carcinoma, Testicular atrophy, Hepatomegaly, Hypogonadotro... |
OMIM:235200 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
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Chronic noninfectious lymphadenopathy, Increased B cell count, Nephrotic syndrome, Coombs-positiv... |
OMIM:603909 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
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Cholelithiasis, Spontaneous hemolytic crises, Jaundice, Cholecystitis, Impaired neutrophil bacter... |
OMIM:613470 |
Pyruvate Kinase Deficiency Of Red Cells |
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Jaundice, Erythroid hyperplasia, Reticulocytosis, Cholecystitis, Chronic hemolytic anemia, Decrea... |
OMIM:266200 |
Immunodeficiency 7 |
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Hypereosinophilia, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly, Neutropenia, Splen... |
OMIM:615387 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
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Exercise-induced hemolysis, Increased mean corpuscular hemoglobin concentration, Splenomegaly, He... |
OMIM:194380 |
Absence Of The Pulmonary Artery |
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Pulmonary arterial hypertension, Cyanosis, Hypocapnia, Bronchiectasis, Pulmonary edema, Pulmonary... |
ORPHA:980 |
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
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Jaundice, Cholestasis, Hepatomegaly, Portal hypertension, Splenomegaly |
ORPHA:59303 |
Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Respiratory distress |
ORPHA:261304 |
Congenital Disorder Of Glycosylation, Type Ie |
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Telangiectasia, Respiratory distress |
OMIM:608799 |
Mercury Poisoning |
|
Respiratory failure, Interstitial pneumonitis, Dyspnea, Respiratory distress |
ORPHA:330021 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
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Pulmonary arterial hypertension, Cyanosis, Anomalous origin of left pulmonary artery from ascendi... |
ORPHA:99050 |
Atrial Septal Defect, Ostium Secundum Type |
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Pulmonary arterial hypertension, Cyanosis, Exertional dyspnea, Breathing dysregulation, Increased... |
ORPHA:99103 |
Elliptocytosis 1 |
|
Splenomegaly, Elliptocytosis, Jaundice, Hemolytic anemia |
OMIM:611804 |
Griscelli Syndrome Type 2 |
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Jaundice, Pancytopenia, Lymphadenopathy, Hemophagocytosis, Hepatomegaly, Neutropenia, Splenomegaly |
ORPHA:79477 |
Woolly Hair Nevus |
|
Enlarged vestibular aqueduct |
ORPHA:79414 |
Lumbar Syndrome |
|
Vesicoureteral reflux, Ambiguous genitalia, Bifid scrotum, Hypoplastic labia majora, Bifid uterus... |
ORPHA:83628 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory failure, Pulmonary hypoplasia, Respiratory distress |
OMIM:617895 |
Vaginal Atresia |
|
Imperforate hymen, Pelvic mass, Uterus didelphys, Bicornuate uterus, Transverse vaginal septum, A... |
ORPHA:65681 |
Stt3B-Cdg |
|
Respiratory distress |
ORPHA:370924 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
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Prolonged neonatal jaundice, Respiratory distress |
ORPHA:226313 |
Cutis Laxa-Marfanoid Syndrome |
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Emphysema |
ORPHA:171719 |
Ciliary Dyskinesia, Primary, 1 |
|
Bronchiectasis, Immotile cilia, Recurrent bronchitis, Chronic sinusitis, Chronic rhinitis, Pneumo... |
OMIM:244400 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Abnormal fallopian tube morphology, Splenomegaly, Pulmonary lymphangiectasia, Hepatosplenomegaly,... |
ORPHA:1655 |
Double Outlet Right Ventricle |
|
Cyanosis, Pulmonary artery atresia, Tachypnea |
ORPHA:3426 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Respiratory insufficiency, Respiratory distress |
ORPHA:1145 |
Goodpasture Syndrome |
|
Cyanosis, Pulmonary hemorrhage, Bloody bronchoalveolar lavage fluid, Nodular pattern on pulmonary... |
OMIM:233450 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
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Pulmonary arterial hypertension, Palmoplantar cutis laxa, Respiratory distress, Central apnea, Re... |
OMIM:616482 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Splenomegaly, Spherocytosis |
ORPHA:66518 |
Sickle Cell Disease |
|
Cholelithiasis, Splenomegaly, Hemolytic anemia, Target cells, Jaundice, Splenic infarction, Hemat... |
OMIM:603903 |
Acute Bilirubin Encephalopathy |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment |
ORPHA:529799 |
Chronic Bilirubin Encephalopathy |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment |
ORPHA:529808 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Hypoplasia of the vagina, Unilateral renal agenesis, Ectopic kidney, Aplasia of the uterus, Horse... |
ORPHA:3109 |
Primary Myelofibrosis |
|
Anemia, Extramedullary hematopoiesis, Pancytopenia, Hepatosplenomegaly, Poikilocytosis, Lymphaden... |
ORPHA:824 |
Erythrocytosis, Familial, 1 |
|
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin, Splenomegaly |
OMIM:133100 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Lymphadenopathy, Abnormal neutrophil count, Bone marrow hypocellularity, Hepatomegaly, Myeloproli... |
ORPHA:3226 |
Transaldolase Deficiency |
|
Hepatic fibrosis, Cirrhosis, Anemia, Pancytopenia, Hepatosplenomegaly, Micronodular cirrhosis, He... |
OMIM:606003 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Respiratory insufficiency, Cyanosis, Sudden episodic apnea |
ORPHA:159 |
Inhalational Anthrax |
|
Dyspnea, Respiratory distress |
ORPHA:247257 |
46,Xx Sex Reversal 2 |
|
Sex reversal, Hypoplasia of the vagina, Bifid scrotum, True hermaphroditism, Azoospermia, Ovotest... |
OMIM:278850 |
Late-Infantile/Juvenile Krabbe Disease |
|
EEG with persistent abnormal rhythmic activity, Prolonged brainstem auditory evoked potentials, D... |
ORPHA:206443 |
Hb Bart'S Hydrops Fetalis |
|
Anemia, Abnormal hemoglobin, Splenomegaly, Hepatomegaly |
ORPHA:163596 |
Nasolacrimal Duct Cyst |
|
Abnormal breath sound, Intercostal retractions, Paroxysmal dyspnea, Stridor, Episodic respiratory... |
ORPHA:141083 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Respiratory distress |
ORPHA:289916 |
Glycogen Storage Disease Ixa1 |
|
Splenomegaly, Hepatomegaly |
OMIM:306000 |
Hereditary Bullous Dystrophy, Macular Type |
|
Pneumonia, Acrocyanosis |
ORPHA:1867 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Pancreatic cysts, Asplenia, Biliary cirrhosis, Hepatic fibrosis, Cirrhosis, Renal insufficiency, ... |
OMIM:208540 |
Rodrigues Blindness |
|
Nasal flaring, Ectodermal dysplasia |
OMIM:268320 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Intermittent jaundice, Cirrhosis, Hepatocellular carcinoma, Intrahepatic cholestasis, Hepatomegal... |
OMIM:601847 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Pancreatic cysts, Hepatic fibrosis, Multiple small medullary renal cysts, Renal insufficiency, Pe... |
OMIM:263200 |
Arnold-Chiari Malformation Type Ii |
|
Apnea, Cyanosis, Pneumonia, Inspiratory stridor |
ORPHA:1136 |
Agnathia-Otocephaly Complex |
|
Tracheomalacia, Pulmonary hypoplasia, Respiratory distress |
OMIM:202650 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Respiratory insufficiency, Abnormal pleura morphology, Asthma, Purpura, Acrocyanosis, Cutis marmo... |
ORPHA:183 |
Synaptic Congenital Myasthenic Syndromes |
|
Respiratory insufficiency, Pulmonary arterial hypertension, Hypoventilation, Exertional dyspnea, ... |
ORPHA:98915 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Respiratory distress |
ORPHA:89844 |
Esophageal Atresia |
|
Cyanosis, Bronchitis, Aspiration, Respiratory distress, Chronic pulmonary obstruction, Laryngotra... |
ORPHA:1199 |
Immunodeficiency 32B |
|
Anemia, Monocytopenia, Neutrophilia, Eosinophilia, Hepatomegaly, Impaired oxidative burst, Thromb... |
OMIM:226990 |
Leukodystrophy, Hypomyelinating, 13 |
|
Prolonged brainstem auditory evoked potentials, Optic atrophy |
OMIM:616881 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Cyanotic episode |
ORPHA:284417 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Hypoventilation, Aspiration pneumonia, Respiratory distress, Apnea, Recurrent pneumonia |
ORPHA:314655 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |