Hemoglobin E-Beta-Thalassemia Syndrome |
|
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia |
ORPHA:231249 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
Delta-Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
Hemoglobin H Disease |
|
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... |
OMIM:603902 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia, Hypocalcemia |
DECIPHER:16 |
Ulna Metaphyseal Dysplasia Syndrome |
|
Hypercalcemia |
OMIM:191420 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:231393 |
Blue Diaper Syndrome |
|
Abnormal circulating tryptophan concentration, Hypercalcemia |
OMIM:211000 |
Adamantinoma |
|
Hypercalcemia |
ORPHA:55881 |
Perching Syndrome |
|
Respiratory distress, Cyanosis, Dysphagia |
OMIM:617055 |
Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
Venular Insufficiency, Systemic |
|
Cyanosis |
OMIM:192700 |
Sulfhemoglobinemia, Congenital |
|
Cyanosis |
OMIM:185460 |
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome |
|
Acrocyanosis |
ORPHA:86918 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Hypercalcemia, Anemia |
ORPHA:2668 |
Laryngotracheoesophageal Cleft |
|
Neonatal respiratory distress, Cyanosis, Cough, Dyspnea, Stridor, Choking episodes, Impaired orop... |
ORPHA:2004 |
Laryngotracheal Angioma |
|
Respiratory distress, Cyanosis, Intercostal retractions, Apnea, Wheezing, Stridor, Cough |
ORPHA:137935 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Splenomegaly, Anemia |
ORPHA:46532 |
Diamond-Blackfan Anemia 3 |
|
Macrocytic anemia, Reticulocytopenia, Persistence of hemoglobin F, Increased mean corpuscular vol... |
OMIM:610629 |
Hyperparathyroidism 1 |
|
Hypercalcemia |
OMIM:145000 |
Seizures, Benign Familial Infantile, 3 |
|
Cyanosis, Apnea |
OMIM:607745 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati... |
OMIM:205950 |
Diffuse Neonatal Hemangiomatosis |
|
Thrombocytopenia, Hypercalcemia, Anemia |
ORPHA:2123 |
Seizures, Benign Familial Infantile, 1 |
|
Cyanosis, Apnea |
OMIM:601764 |
Bullous Dystrophy, Hereditary Macular Type |
|
Acrocyanosis, Death in childhood |
OMIM:302000 |
Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Bronchial breath sound, Cyanosis, Anorexia, Crackles, Nonproductive cough, ... |
ORPHA:1302 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Cyanosis, Tachypnea, Respiratory failure, Cough |
OMIM:263000 |
Hypoparathyroidism, Familial Isolated, 2 |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:618883 |
Phosphoserine Aminotransferase Deficiency |
|
Death in infancy, Cyanotic episode, Apnea |
OMIM:610992 |
Hypocalcemia, Autosomal Dominant 2 |
|
Abnormal blood phosphate concentration, Hypocalcemia |
OMIM:615361 |
Chronic Pneumonitis Of Infancy |
|
Respiratory distress, Cyanosis, Intercostal retractions, Reduced forced vital capacity, Tachypnea... |
ORPHA:91359 |
High Altitude Pulmonary Edema |
|
Orthopnea, Cyanosis, Anorexia, Crackles, Dyspnea, Tachypnea, Hypoxemia, Cough |
ORPHA:330012 |
Laryngeal Abductor Paralysis |
|
Stridor, Cyanosis, Dysphagia |
OMIM:150260 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Abnormal hemoglobin, Anemia |
ORPHA:3319 |
Cyanosis, Transient Neonatal |
|
Reticulocytosis, Methemoglobinemia, Anemia |
OMIM:613977 |
Parathyroid Carcinoma |
|
Hypercalcemia |
OMIM:608266 |
Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
Rhabdoid Tumor |
|
Thrombocytopenia, Hypercalcemia, Anemia |
ORPHA:69077 |
Hyperparathyroidism 4 |
|
Hypercalcemia |
OMIM:617343 |
Hypomagnesemia 1, Intestinal |
|
Hypocalcemia, Hypomagnesemia |
OMIM:602014 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Dyspnea, Tachypnea, Respiratory... |
OMIM:265120 |
Hypophosphatasia |
|
Hypercalcemia, Anemia |
ORPHA:436 |
Hypercalcemia, Infantile, 2 |
|
Hypercalcemia, Hypophosphatemia |
OMIM:616963 |
Recurrent Respiratory Papillomatosis |
|
Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction... |
ORPHA:60032 |
Pyknoachondrogenesis |
|
Stillbirth |
OMIM:265880 |
Neuralgic Amyotrophy |
|
Acrocyanosis, Respiratory insufficiency |
ORPHA:2901 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
Granulomatous Slack Skin |
|
Hypercalcemia |
ORPHA:33111 |
Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia |
ORPHA:846 |
Cleft Larynx, Posterior |
|
Aspiration, Cyanosis |
OMIM:215800 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Respiratory distress, Cyanosis |
ORPHA:91130 |
Choanal Atresia |
|
Respiratory distress, Cyanosis, Upper airway obstruction, Choking episodes, Tracheomalacia, Chron... |
ORPHA:137914 |
Alpha-Heavy Chain Disease |
|
Splenomegaly, Hypocalcemia, Anemia |
ORPHA:100025 |
Obesity-Hypoventilation Syndrome |
|
Hypoventilation, Cyanosis |
OMIM:257500 |
Cardiomyopathy, Dilated, 2H |
|
Neonatal death, Tachypnea, Cardiorespiratory arrest |
OMIM:620203 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Decreased mean corpuscular volume, Increased serum iron, Elevated hepatic iron concentration, Ery... |
OMIM:206100 |
Pseudohypoparathyroidism, Type Ii |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:203330 |
Pulmonary Alveolar Proteinosis, Acquired |
|
Cyanosis, Pneumonia, Dyspnea, Inspiratory crackles, Hypoxemia, Restrictive ventilatory defect, Co... |
OMIM:610910 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Increased circulating ferritin co... |
ORPHA:766 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Crackles, Tachypnea, Hy... |
ORPHA:264675 |
Small Cell Carcinoma Of The Bladder |
|
Hypercalcemia |
ORPHA:284400 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Nonspecif... |
OMIM:610921 |
Congenital Pulmonary Lymphangiectasia |
|
Respiratory distress, Cyanosis, Chronic pulmonary obstruction, Cough, Pulmonary arterial hyperten... |
ORPHA:2414 |
Asbestos Intoxication |
|
Reduced vital capacity, Cyanosis, Reduced forced vital capacity, Nonproductive cough, Dyspnea, Wh... |
ORPHA:2302 |
Infant Acute Respiratory Distress Syndrome |
|
Cyanosis, Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure |
ORPHA:70587 |
Cryofibrinogenemia, Familial Primary |
|
Acrocyanosis |
OMIM:123540 |
Blue Diaper Syndrome |
|
Hyperphosphatemia, Hypercalcemia |
ORPHA:94086 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Cyanosis, Spontaneous pneumothorax, Nonspecific interstitial pneumonia, Red... |
OMIM:610913 |
Breath-Holding Spells |
|
Cyanosis |
OMIM:607578 |
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Hypercalcemia |
OMIM:239199 |
Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El... |
ORPHA:232 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia |
ORPHA:2239 |
Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hypercalcemia, Splenomegaly, Hypophosphatemia, Anemia |
OMIM:239200 |
Refractory Celiac Disease |
|
Normocytic anemia, Macrocytic anemia, Microcytic anemia, Hypomagnesemia, Increased proportion of ... |
ORPHA:398063 |
Primary Pulmonary Hypoplasia |
|
Neonatal respiratory distress, Cyanosis, Apnea, Asthma, Tachypnea, Pneumothorax, Hypoxemia, Restr... |
ORPHA:2257 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Central apnea, Cyanosis |
ORPHA:71277 |
Hypercalcemia, Infantile, 1 |
|
Hypercalcemia |
OMIM:143880 |
Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea |
OMIM:267450 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Splenomegaly, Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration |
OMIM:619658 |
Hypophosphatasia, Infantile |
|
Elevated plasma pyrophosphate, Hypercalcemia, Anemia |
OMIM:241500 |
Surfactant Metabolism Dysfunction, Pulmonary, 4 |
|
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Tachypnea, Restric... |
OMIM:300770 |
Beta-Thalassemia |
|
Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Abnormality of iron homeo... |
ORPHA:848 |
Benign Familial Infantile Epilepsy |
|
Cyanosis, Apnea |
ORPHA:306 |
Familial Isolated Hyperparathyroidism |
|
Hypercalcemia, Hypophosphatemia |
ORPHA:99879 |
Myopathy, Tubular Aggregate, 2 |
|
Hypocalcemia, Elevated circulating creatine kinase concentration |
OMIM:615883 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Hypercalcemia |
OMIM:614732 |
Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Dyspnea, Tachypnea, Restrictive ventilatory defect, Cough, Decreased DLCO |
OMIM:616414 |
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia |
OMIM:620152 |
Oculoskeletodental Syndrome |
|
Hypercalcemia, Hypocalcemia |
ORPHA:557003 |
Progressive Familial Intrahepatic Cholestasis |
|
Splenomegaly, Hypocalcemia |
ORPHA:172 |
Acute Interstitial Pneumonia |
|
Cyanosis, Crackles, Nonproductive cough, Dyspnea, Tachypnea, Bronchiectasis, Hypoxemia, Respirato... |
ORPHA:79126 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypertriglyceridemia, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hypercholesterolemia |
OMIM:612526 |
Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hypermagnesemia, Hypercalcemia |
OMIM:145980 |
Uremic Pruritus |
|
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen |
ORPHA:94059 |
Mitochondrial Phosphate Carrier Deficiency |
|
Cyanosis, Respiratory insufficiency |
OMIM:610773 |
Acute Lung Injury |
|
Respiratory distress, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory failure, Addictive al... |
ORPHA:178320 |
Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Hypoxemia... |
ORPHA:36238 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Hypercalcemia |
OMIM:145001 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Episodic hemolytic anemia, Hypercalcemia, Increased blood urea nitrogen |
ORPHA:251004 |
Hypoadrenocorticism, Familial |
|
Cyanosis, Apnea |
OMIM:240200 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:146200 |
Non-Functioning Paraganglioma |
|
Hypercalcemia |
ORPHA:94080 |
Late-Onset Isolated Acth Deficiency |
|
Hyponatremia, Normocytic anemia, Macrocytic anemia, Hypercalcemia, Eosinophilia, Hyperkalemia, Hy... |
ORPHA:199299 |
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Tachypnea, Polyphagia |
OMIM:620085 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Iron deficiency anemia, Hypocalcemia, Hypophosphatemia |
ORPHA:89937 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Elevated creatine kinase after exercise, Hypercalcemia |
ORPHA:284426 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Orthopnea, Reduced vital capacity, Cyanosis, Restrictive ventilatory defect, Respiratory failure,... |
ORPHA:98913 |
Vitamin D-Dependent Rickets, Type 3 |
|
Hypocalcemia, Hypophosphatemia |
OMIM:619073 |
Pseudohypoparathyroidism Type 2 |
|
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures |
ORPHA:94090 |
Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Hypermagnesemia, Hypercalcemia |
OMIM:145981 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia |
OMIM:612089 |
Acquired Methemoglobinemia |
|
Hypoxemia, Dyspnea, Cyanosis, Respiratory distress |
ORPHA:464453 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Hyperphosphatemia, Hypercalcemia |
OMIM:617994 |
Glucose-Galactose Malabsorption |
|
Hypernatremia, Hypercalcemia |
ORPHA:35710 |
Intermediate Osteopetrosis |
|
Thrombocytopenia, Hypocalcemia, Anemia, Hepatosplenomegaly |
ORPHA:210110 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Cyanosis, Crackles, Dyspnea, Hypoxemia, Restrictive ventilatory defect, Cough, Decreased DLCO |
ORPHA:747 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Cyanosis, Exertional dyspnea |
OMIM:250800 |
Benign Familial Neonatal Epilepsy |
|
Circumoral cyanosis, Apnea |
ORPHA:1949 |
Oculoskeletodental Syndrome |
|
Splenomegaly, Hypercalcemia, Hypocalcemia |
OMIM:618440 |
Pseudohypoparathyroidism, Type Ib |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:603233 |
Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia |
OMIM:618849 |
Hypocalcemia, Autosomal Dominant 1 |
|
Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia |
OMIM:601198 |
Infantile Myofibromatosis |
|
Hypercalcemia |
ORPHA:2591 |
Hereditary Methemoglobinemia |
|
Cyanosis, Exertional dyspnea |
ORPHA:621 |
Joubert Syndrome 23 |
|
Tachypnea, Apnea |
OMIM:616490 |
Hb Bart'S Hydrops Fetalis |
|
Splenomegaly, Abnormal hemoglobin, Anemia |
ORPHA:163596 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:300946 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Hypercalcemia |
OMIM:171420 |
Multiple Myeloma |
|
Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Hyperproteinemia, Anemia |
ORPHA:29073 |
Chiari Malformation Type Ii |
|
Cyanosis, Inspiratory stridor, Dysphagia |
OMIM:207950 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Cyanosis, Apnea, Impulsivity, Aggressive behavior, Tongue thrusting, Attention deficit hyperactiv... |
OMIM:619580 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypermagnesemia, Hypercalcemia, Hypophosphatemia |
OMIM:600740 |
Peripheral Motor Neuropathy-Dysautonomia Syndrome |
|
Acrocyanosis |
ORPHA:2400 |
Kenny-Caffey Syndrome, Type 1 |
|
Hypocalcemia, Anemia, Hypomagnesemia |
OMIM:244460 |
Buerger Disease |
|
Acrocyanosis |
ORPHA:36258 |
Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
Acute Adrenal Insufficiency |
|
Hyponatremia, Normocytic anemia, Hypercalcemia, Hyperkalemia, Increased circulating renin level, ... |
ORPHA:95409 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Hypokalemia, Hypocalcemia, Anemia, Hypomagnesemia |
OMIM:175500 |
Albers-Schönberg Osteopetrosis |
|
Abnormal leukocyte morphology, Hypocalcemia, Anemia |
ORPHA:53 |
Avian Influenza |
|
Respiratory distress, Miscarriage, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tac... |
ORPHA:454836 |
Tricuspid Atresia |
|
Cyanosis |
ORPHA:1209 |
Restrictive Dermopathy 2 |
|
Respiratory distress, Cyanosis |
OMIM:619793 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Hypercalcemia, Hypophosphatemia |
OMIM:156400 |
Congenital Tracheomalacia |
|
Neonatal respiratory distress, Cyanosis, Apnea, Intercostal retractions, Pneumonia, Productive co... |
ORPHA:95430 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Stridor, Paroxysmal dyspnea, Respiratory failure, Cyanosis |
ORPHA:444013 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Respiratory distress, Neonatal respiratory distress, Crackles, Asthma, Tachypnea, Wheezing, Hypox... |
OMIM:610978 |
Atypical Rett Syndrome |
|
Restrictive behavior, Sudden episodic apnea, Episodic tachypnea, Tongue thrusting, Agitation, Ina... |
ORPHA:3095 |
Renal Tubular Acidosis, Distal, 1 |
|
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia |
OMIM:179800 |
Congenital Myasthenic Syndrome |
|
Cyanosis, Sudden episodic apnea, Intermittent episodes of respiratory insufficiency due to muscle... |
ORPHA:590 |
Presynaptic Congenital Myasthenic Syndromes |
|
Cyanosis, Sudden episodic apnea, Intermittent episodes of respiratory insufficiency due to muscle... |
ORPHA:98914 |
Paget Disease Of Bone 2, Early-Onset |
|
Hypercalcemia |
OMIM:602080 |
2P21 Microdeletion Syndrome |
|
Hypocalcemia |
ORPHA:163693 |
Thymic Neuroendocrine Tumor |
|
Hypercalcemia |
ORPHA:97289 |
Congenital Heart Block |
|
Pleural effusion, Cyanosis, Crackles |
ORPHA:60041 |
Pulmonary Capillary Hemangiomatosis |
|
Cyanosis, Dyspnea, Hemothorax, Hypoxemia, Elevated pulmonary artery pressure, Decreased DLCO, Ple... |
ORPHA:199241 |
Primary Intestinal Lymphangiectasia |
|
Reduced proportion of CD4+ effector memory T cells, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia... |
ORPHA:90362 |
Hsd10 Disease, Infantile Type |
|
Restlessness, Cyanosis, Paroxysmal bursts of laughter, Dysphagia |
ORPHA:391428 |
Pulmonary Arteriovenous Malformation |
|
Cyanosis, Epistaxis, Dyspnea, Telangiectasia, Hypoxemia, Pleural empyema, Cough, Pulmonary arteri... |
ORPHA:2038 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Hypocalcemic tetany, Hypocalcemia, Hypocalcemic seizures |
ORPHA:93324 |
Addison Disease |
|
Hyponatremia, Normocytic anemia, Hypercalcemia, Thiamine-responsive megaloblastic anemia, Hyperka... |
ORPHA:85138 |
X-Linked Agammaglobulinemia |
|
Thrombocytopenia, Hypocalcemia, Anemia, Neutropenia |
ORPHA:47 |
Joubert Syndrome 7 |
|
Central apnea, Tachypnea, Episodic tachypnea, Neonatal breathing dysregulation |
OMIM:611560 |
Autoimmune Hypoparathyroidism |
|
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
ORPHA:36913 |
Encephalopathy, Ethylmalonic |
|
Death in infancy, Acrocyanosis, Petechiae |
OMIM:602473 |
Methionine Malabsorption Syndrome |
|
Tachypnea |
OMIM:250900 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Hypercalcemia |
ORPHA:276621 |
Familial Hypocalciuric Hypercalcemia |
|
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Hypocalcemic seizures |
ORPHA:405 |
Monosomy 13Q34 |
|
Hypercalcemia |
ORPHA:96168 |
Osteopetrosis, Autosomal Recessive 1 |
|
Pancytopenia, Splenomegaly, Anemia, Hypocalcemia, Thrombocytopenia |
OMIM:259700 |
Beta-Thalassemia Intermedia |
|
Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, Splenom... |
ORPHA:231222 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory distress, Death in infancy, Tachypnea, Respiratory insufficiency, Respiratory failure |
OMIM:614299 |
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Interstitial pneumon... |
ORPHA:217563 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Hypopnea,... |
OMIM:618426 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Hypercalcemia |
ORPHA:476126 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Cyanosis, Apnea |
OMIM:261680 |
Joubert Syndrome 30 |
|
Tachypnea, Apnea |
OMIM:617622 |
Congenital Tricuspid Valve Dysplasia |
|
Respiratory failure requiring assisted ventilation, Cyanosis, Tachypnea, Hypoxemia, Respiratory f... |
ORPHA:555874 |
Idiopathic Neonatal Atrial Flutter |
|
Respiratory distress, Tachypnea |
ORPHA:45452 |
Colchicine Poisoning |
|
Hyponatremia, Leukocytosis, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypo... |
ORPHA:31824 |
Pulmonary Alveolar Microlithiasis |
|
Cyanosis, Increased pulmonary vascular resistance, Nonproductive cough, Dyspnea, Tachypnea, Pneum... |
ORPHA:60025 |
Pseudopseudohypoparathyroidism |
|
Hyperphosphatemia, Hypocalcemia |
ORPHA:79445 |
Complete Atrioventricular Septal Defect |
|
Cyanosis, Intercostal retractions, Crackles, Wheezing, Tachypnea, Recurrent pneumonia, Elevated p... |
ORPHA:1329 |
Dravet Syndrome |
|
Obsessive-compulsive trait, Cyanotic episode, Impulsivity |
ORPHA:33069 |
Pheochromocytoma |
|
Hypercalcemia |
OMIM:171300 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Apneic episodes in infancy, Episodic tachypnea, Dysphagia |
ORPHA:163961 |
Sepsis In Premature Infants |
|
Cyanosis, Abnormal mucociliary clearance, Dyspnea, Jaundice, Nasal flaring, Abnormal respiratory ... |
ORPHA:90051 |
Holocarboxylase Synthetase Deficiency |
|
Respiratory distress, Tachypnea, Anorexia |
ORPHA:79242 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Apnea, Episodic tachypnea, Aspiration pneumonia, Dysphagia, Abnormal repetitive mannerisms |
ORPHA:79264 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypertriglyceridemia, Hypercalcemia |
ORPHA:369837 |
Vipoma |
|
Hypokalemia, Hypercalcemia, Normochromic anemia |
ORPHA:97282 |
Generalized Pustular Psoriasis |
|
Hyponatremia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hypoalbuminemi... |
ORPHA:247353 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Hypercalcemia |
ORPHA:29072 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Hypoxemia, Cyanosis, Tachypnea |
ORPHA:860 |
Fibrous Dysplasia Of Bone |
|
Hypercalcemia, Hypophosphatemia |
ORPHA:249 |
Kenny-Caffey Syndrome, Type 2 |
|
Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia, Anemia |
OMIM:127000 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Autoimmune hemolytic anemia, Psoriasiform dermatitis, Autoimmune thrombocytopenia, Splenomegaly, ... |
ORPHA:37042 |
Isolated Right Ventricular Hypoplasia |
|
Hypoxemia, Dyspnea, Cyanosis |
ORPHA:439 |
Glucagonoma |
|
Normochromic anemia, Hypercalcemia, Acanthocytosis |
ORPHA:97280 |
Bartter Syndrome, Type 1, Antenatal |
|
Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Hypochloremia, Hypokalemia, In... |
OMIM:601678 |
Pseudohypoparathyroidism, Type Ic |
|
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia |
OMIM:612462 |
Criss-Cross Heart |
|
Cyanosis, Respiratory insufficiency |
ORPHA:1461 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Cyanotic episode |
ORPHA:284417 |
Ring Chromosome 10 Syndrome |
|
Hypocalcemia |
ORPHA:1438 |
Somatostatinoma |
|
Hypercalcemia, Hypochromic microcytic anemia |
ORPHA:97283 |
Myasthenic Syndrome, Congenital, 21, Presynaptic |
|
Cyanosis, Apnea, Respiratory insufficiency |
OMIM:617239 |
Diamond-Blackfan Anemia 6 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:612561 |
Osteopetrosis, Autosomal Recessive 5 |
|
Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Leukocytosis, Splenomegaly, Hypochr... |
OMIM:259720 |
Congenital Fibrinogen Deficiency |
|
Cyanosis, Bruising susceptibility, Subcutaneous hemorrhage |
ORPHA:335 |
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency |
|
Tachypnea |
OMIM:245050 |
Hypotonia-Cystinuria Syndrome |
|
Hypocalcemia |
OMIM:606407 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Cyanosis, Sudden episodic apnea, Respiratory insufficiency |
ORPHA:159 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 |
|
Respiratory failure, Tachypnea, Inspiratory stridor, Ventilator dependence with inability to wean |
OMIM:604320 |
Joubert Syndrome 9 |
|
Apnea, Episodic tachypnea |
OMIM:612285 |
Familial Isolated Hypoparathyroidism |
|
Hypocalcemia |
ORPHA:2238 |
Neuroleptic Malignant Syndrome |
|
Hyponatremia, Elevated circulating creatine kinase concentration, Leukocytosis, Hyperkalemia, Hyp... |
ORPHA:94093 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Cyanosis, Dysphagia, Aggressive behavior |
ORPHA:488627 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Sinusitis, Cutis marmorata, Cough, Asthma, Respiratory insufficiency, Urticaria, Dysphagia, Acroc... |
ORPHA:183 |
Atrial Septal Defect, Ostium Primum Type |
|
Cyanosis, Dyspnea, Tachypnea, Abnormal respiratory system physiology, Exertional dyspnea, Pulmona... |
ORPHA:99106 |
Double Outlet Right Ventricle |
|
Cyanosis, Tachypnea |
ORPHA:3426 |
Tetrasomy 5P |
|
Respiratory distress, Pulmonary arterial hypertension, Cyanosis |
ORPHA:3309 |
Gracile Bone Dysplasia |
|
Asplenia, Hypoplastic spleen, Hypocalcemia |
OMIM:602361 |
Tetanus |
|
Respiratory distress, Tachypnea, Dysphagia |
ORPHA:3299 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Death in infancy, Tachypnea, Pulmonary arterial hypertension, Death in childhood |
OMIM:613320 |
Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... |
ORPHA:231226 |
Ethylene Glycol Poisoning |
|
Cyanosis, Tachypnea, Episodic respiratory distress, Addictive alcohol use, Abnormal pattern of re... |
ORPHA:31826 |
Ethylmalonic Encephalopathy |
|
Acrocyanosis, Petechiae |
ORPHA:51188 |
Genetic Recurrent Myoglobinuria |
|
Highly elevated creatine kinase, Hyperphosphatemia, Hyperkalemia, Hypocalcemia |
ORPHA:99845 |
Esophageal Atresia |
|
Respiratory distress, Cyanosis, Episodic respiratory distress, Chronic pulmonary obstruction, Asp... |
ORPHA:1199 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Respiratory failure, Tachypnea, Death in childhood |
OMIM:615838 |
Celiac Disease, Susceptibility To, 1 |
|
Iron deficiency anemia, Macrocytic anemia, Thrombocytosis, Hypocalcemia |
OMIM:212750 |
Methemoglobinemia And Ambiguous Genitalia |
|
Cyanosis |
OMIM:250790 |
Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad... |
ORPHA:231214 |
Multiple Endocrine Neoplasia, Type I |
|
Hypercalcemia |
OMIM:131100 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Hypocalcemia, Hypophosphatemia |
OMIM:600081 |
Waardenburg Syndrome Type 3 |
|
Tracheomalacia, Acrocyanosis |
ORPHA:896 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:241410 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia |
OMIM:264700 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Tachypnea |
OMIM:616501 |
Multifocal Atrial Tachycardia |
|
Dyspnea, Tachypnea |
ORPHA:3282 |
Atrial Septal Defect, Ostium Secundum Type |
|
Orthopnea, Cyanosis, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance,... |
ORPHA:99103 |
Pseudohypoparathyroidism Type 1B |
|
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures |
ORPHA:94089 |
Aicardi-Goutieres Syndrome 1 |
|
Erythema, Prolonged neonatal jaundice, Acrocyanosis, Self-mutilation, Petechiae, Purpura |
OMIM:225750 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
HbH hemoglobin, Microcytic anemia |
ORPHA:98791 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Hypercalcemia, Hypophosphatemia |
ORPHA:99880 |
Rh Deficiency Syndrome |
|
Hypoxemia, Jaundice, Tachypnea, Miscarriage |
ORPHA:71275 |
Parathyroid Carcinoma |
|
Hypercalcemia, Hypophosphatemia |
ORPHA:143 |
Hereditary Bullous Dystrophy, Macular Type |
|
Acrocyanosis, Pneumonia |
ORPHA:1867 |
Timothy Syndrome |
|
Hypocalcemia |
OMIM:601005 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Death in infancy, Tachypnea, Respiratory arrest |
OMIM:201475 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Acrocyanosis |
OMIM:614407 |
Joubert Syndrome 3 |
|
Central apnea, Episodic tachypnea, Neonatal breathing dysregulation |
OMIM:608629 |
Atrial Septal Defect, Coronary Sinus Type |
|
Cyanosis, Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Pulmonary arterial hyperte... |
ORPHA:99104 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Hypoxemia, Pleural effusion, Tachypnea, Respiratory failure |
ORPHA:542323 |
Bacterial Toxic-Shock Syndrome |
|
Elevated circulating creatine kinase concentration, Elevated circulating creatinine concentration... |
ORPHA:36234 |
Myasthenia Gravis |
|
Dyspnea, Acrocyanosis, Dysphagia |
ORPHA:589 |
Pyruvate Dehydrogenase Deficiency |
|
Dyspnea, Tachypnea |
ORPHA:765 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Cyanosis |
ORPHA:3304 |
Sarcoidosis |
|
Hemolytic anemia, Hypercalcemia, Eosinophilia, Thrombocytopenia, Increased T cell count, Leukopen... |
ORPHA:797 |
Dahlberg-Borer-Newcomer Syndrome |
|
Hypocalcemia |
ORPHA:1563 |
Ppoma |
|
Hypercalcemia |
ORPHA:97278 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Urticaria, Erythema, Acrocyanosis, Purpura |
ORPHA:343 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Episodic tachypnea |
OMIM:615160 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Hypocalcemia, Hypophosphatemia |
ORPHA:93160 |
Beta-Ketothiolase Deficiency |
|
Anorexia, Tachypnea, Agitation, Cough, Oral aversion |
ORPHA:134 |
Cholera |
|
Hyponatremia, Hypocalcemia, Hypokalemia, Abnormal blood ion concentration |
ORPHA:173 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating creatine kinase concentration, Increased circulating free fatty acid level, ... |
ORPHA:26793 |
Eosinophilic Fasciitis |
|
Acrocyanosis |
ORPHA:3165 |
Zollinger-Ellison Syndrome |
|
Hypercalcemia |
ORPHA:913 |
Propionic Acidemia |
|
Tachypnea, Apnea |
OMIM:606054 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia |
ORPHA:289157 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Cutis marmorata, Tachypnea, Erythema, Livedo reticularis, Telangiectasia |
OMIM:615934 |
Grfoma |
|
Hypercalcemia |
ORPHA:97261 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Pulmonary arterial hypertension, Tachypnea |
OMIM:614857 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia |
OMIM:618183 |
Acquired Purpura Fulminans |
|
Acrocyanosis, Macular purpura |
ORPHA:49566 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Splenomegaly, Hypoproteinemia, Hypocalcemia |
OMIM:235255 |
Citrullinemia Type I |
|
Tachypnea |
ORPHA:247525 |
Multiple Endocrine Neoplasia Type 2 |
|
Hypercalcemia |
ORPHA:653 |
Meckel Syndrome 14 |
|
Pneumothorax, Cyanosis, Cardiorespiratory arrest |
OMIM:619879 |
Pearson Syndrome |
|
Reticulocytosis, Pancytopenia, Hypomagnesemia, Thrombocytopenia, Splenomegaly, Neutropenia, Hypok... |
ORPHA:699 |
Multiple Endocrine Neoplasia Type 4 |
|
Hypercalcemia |
ORPHA:276152 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Telangiectasia of the sk... |
OMIM:187300 |
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:617101 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Hyponatremia, Calcinosis, Splenomegaly, Hypokalemia, Hypocalcemia |
OMIM:617913 |
Unilateral Polymicrogyria |
|
Pseudobulbar paralysis, Cyanosis, Apnea, Epistaxis |
ORPHA:268943 |
Oncogenic Osteomalacia |
|
Hypocalcemia, Hypophosphatemia |
ORPHA:352540 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hypoventilation, Cyanosis, Central hypoventilation, Aggressive behavior, Asthma, Cardiorespirator... |
ORPHA:293987 |
Cardiocranial Syndrome, Pfeiffer Type |
|
Episodic tachypnea |
ORPHA:2872 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Death in infancy, Cyanosis, Apnea, Respiratory insufficiency, Respiratory failure |
OMIM:252010 |
Sanjad-Sakati Syndrome |
|
Hyperphosphatemia, Hypocalcemia |
ORPHA:2323 |
Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalce... |
ORPHA:411634 |
Double Outlet Left Ventricle |
|
Cyanosis, Tachypnea |
ORPHA:3427 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Hypocalcemia |
OMIM:607143 |
Absence Of The Pulmonary Artery |
|
Orthopnea, Cyanosis, Dyspnea, Nonproductive cough, Recurrent pneumonia, Bronchiectasis, Hypocapni... |
ORPHA:980 |
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
Elevated amniotic fluid alpha-fetoprotein, HbH hemoglobin |
ORPHA:423479 |
Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Webbed ne... |
ORPHA:124 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Splenomegaly, Hypoproteinemia, Hypocalcemia, Hepatosplenomegaly |
ORPHA:1655 |
Pseudohypoparathyroidism Type 1C |
|
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures |
ORPHA:79444 |
Congenital Tracheal Stenosis |
|
Respiratory distress, Cyanosis, Neonatal asphyxia, Wheezing, Dyspnea, Upper airway obstruction |
ORPHA:141127 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Respiratory distress, Pleural effusion, Cyanosis, Apnea |
OMIM:261740 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Apneic episodes... |
ORPHA:348 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Hypocalcemia |
OMIM:618476 |
Multiple Endocrine Neoplasia Type 1 |
|
Hypercalcemia |
ORPHA:652 |
Serotonin Syndrome |
|
Restlessness, Tachypnea, Agitation |
ORPHA:43116 |
Autosomal Dominant Hypocalcemia |
|
Hyperphosphatemia, Hypocalcemia, Hypomagnesemia |
ORPHA:428 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:619769 |
Osteopetrosis With Renal Tubular Acidosis |
|
Pancytopenia, Elevated circulating creatine kinase concentration, Anemia, Leukopenia, Elliptocyto... |
ORPHA:2785 |
Poems Syndrome |
|
Respiratory insufficiency due to muscle weakness, Restrictive ventilatory defect, Pulmonary arter... |
ORPHA:2905 |
Williams Syndrome |
|
Abnormal circulating lipid concentration, Hypercalcemia, Elevated circulating creatine kinase con... |
ORPHA:904 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Anemia, Thrombocytopenia, Hypocalcemia, Hyperbilirubinemia |
ORPHA:163979 |
Coronary Arterial Fistula |
|
Orthopnea, Tachypnea, Pulmonary arterial hypertension, Exertional dyspnea |
ORPHA:2041 |
Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Anemia, Neutropenia, Thrombocy... |
OMIM:260400 |
Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persistence of hemoglobi... |
OMIM:617052 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Psoriasiform dermatitis, Hypocalcemia, Hypocalcemic seizures |
ORPHA:2237 |
Lead Poisoning |
|
Decreased HDL cholesterol concentration, Imbalanced hemoglobin synthesis, Abnormal T cell morphol... |
ORPHA:330015 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Death in infancy, Cyanosis |
OMIM:617478 |
Thymoma |
|
Leukemia, Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis |
ORPHA:99867 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Hemolytic anemia, Leukocytosis, Hyperkalemia, Hypocalcemia, Thrombocytopenia |
ORPHA:544482 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Jaundice, Tachypnea, Apnea, Anorexia |
ORPHA:20 |
Goodpasture Syndrome |
|
Cyanosis, Crackles, Increased DLCO, Tachypnea, Restrictive ventilatory defect, Cough, Exertional ... |
OMIM:233450 |
Histiocytoid Cardiomyopathy |
|
Cyanosis, Tachypnea, Cough |
ORPHA:137675 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Dyspnea, Lip telangiecta... |
OMIM:610655 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Cyanosis |
ORPHA:2326 |
Mitochondrial Trifunctional Protein Deficiency |
|
Hypocalcemia |
ORPHA:746 |
Cartilage-Hair Hypoplasia |
|
Hypocalcemia, Anemia, Neutropenia |
ORPHA:175 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Hypocalcemic tetany, Hypocalcemia, Hypomagnesemia |
ORPHA:73224 |
Joubert Syndrome With Oculorenal Defect |
|
Tachypnea, Apnea |
ORPHA:2318 |
Pseudohypoparathyroidism Type 1A |
|
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures |
ORPHA:79443 |
Isotretinoin-Like Syndrome |
|
Lymphopenia, Hypocalcemia |
ORPHA:2306 |
Aortic Arch Interruption |
|
Respiratory distress, Cyanosis, Tachypnea, Exertional dyspnea |
ORPHA:2299 |
Tarp Syndrome |
|
Cyanosis, Apnea |
ORPHA:2886 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Central apnea, Respiratory failure requiring assisted ventilation, Neonatal respiratory distress,... |
ORPHA:79345 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Nail bed telangiectasia,... |
OMIM:600376 |
Joubert Syndrome 1 |
|
Central apnea, Hyperactivity, Episodic tachypnea, Aggressive behavior, Self-mutilation, Neonatal ... |
OMIM:213300 |
Autosomal Recessive Malignant Osteopetrosis |
|
Splenomegaly, Hypocalcemia, Anemia, Hypophosphatemia |
ORPHA:667 |
Fucosidosis |
|
Acrocyanosis, Vascular skin abnormality |
ORPHA:349 |
Pitt-Hopkins Syndrome |
|
Aggressive behavior, Self-injurious behavior, Acrocyanosis, Abnormal pattern of respiration, Hype... |
ORPHA:2896 |
Holocarboxylase Synthetase Deficiency |
|
Tachypnea, Hyperventilation |
OMIM:253270 |
Joubert Syndrome |
|
Apnea, Episodic tachypnea, Abnormal pattern of respiration |
ORPHA:475 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Hypocalcemic tetany, Hyperphosphatemia, Anemia, Hypocalcemic seizures |
ORPHA:93325 |
Gitelman Syndrome |
|
Hypermagnesemia, Iron deficiency anemia, Hypokalemia, Hypocalcemia, Hypomagnesemia |
ORPHA:358 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Decreased sensitivity to hypoxemia, Acrocyanosis |
OMIM:223900 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Decreased proportion of naive T cells, Aplasia of the thymus, T lymphocytopenia, Coombs-positive ... |
ORPHA:83471 |
Exercise-Induced Malignant Hyperthermia |
|
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, Hypocalcemia... |
ORPHA:466650 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Pancytopenia, Hypoalbuminemia, Hypocalcemia, Unconjugated hyperbilirubinemia, Anemia |
OMIM:613658 |
Williams-Beuren Syndrome |
|
Hypercalcemia |
OMIM:194050 |
Pseudohypoparathyroidism, Type Ia |
|
Hypocalcemic tetany, Hyperphosphatemia |
OMIM:103580 |
Pyruvate Carboxylase Deficiency |
|
Anorexia, Tachypnea, Abnormal temper tantrums, Compulsive behaviors, Recurrent hand flapping, Abn... |
ORPHA:3008 |
Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Webbed neck, Persistence of ... |
OMIM:105650 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Jaundice, Tachypnea |
OMIM:615751 |
Cardiac Valvular Dysplasia 2 |
|
Central cyanosis |
OMIM:620067 |
Cocaine Intoxication |
|
Respiratory distress, Wheezing, Tachypnea, Pneumothorax, Agitation, Cough, Hyperventilation |
ORPHA:90068 |
Biotinidase Deficiency |
|
Tachypnea, Apnea |
OMIM:253260 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Pulmonary arterial hypertension, Cyanosis, Exertional dyspnea |
ORPHA:99050 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Abnormal hemoglobin, Anemia |
ORPHA:847 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Tachypnea, Apnea, Recurrent aspiration pneumonia, Chronic lung disease |
ORPHA:397715 |
Sotos Syndrome |
|
Acute lymphoblastic leukemia, Hypercalcemia |
ORPHA:821 |
Liver Disease, Severe Congenital |
|
Hyponatremia, Elevated circulating alpha-fetoprotein concentration, Increased circulating ferriti... |
OMIM:619991 |
Igg4-Related Thyroid Disease |
|
Hypocalcemia |
ORPHA:64744 |
Hennekam Syndrome |
|
Splenomegaly, Lymphopenia, Hypocalcemia |
ORPHA:2136 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:301040 |
Heterotaxy, Visceral, 7, Autosomal |
|
Cyanosis |
OMIM:616749 |
Malignant Hyperthermia Of Anesthesia |
|
Tachypnea, Hypercapnia |
ORPHA:423 |
Velocardiofacial Syndrome |
|
Hypocalcemia |
OMIM:192430 |
Eisenmenger Syndrome |
|
Respiratory distress, Cyanosis, Increased pulmonary vascular resistance, Wheezing, Hypoxemia, Pul... |
ORPHA:97214 |
Joubert Syndrome 5 |
|
Central apnea, Episodic tachypnea, Neonatal breathing dysregulation, Aggressive behavior |
OMIM:610188 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Respiratory failure, Tachypnea, Respiratory insufficiency, Death in childhood |
OMIM:618278 |
Postinfectious Vasculitis |
|
Palpable purpura, Cutis marmorata, Pneumonia, Anorexia, Vasculitis in the skin, Acrocyanosis |
ORPHA:48435 |
Craniofacioskeletal Syndrome |
|
Hypocalcemia |
OMIM:300712 |
Joubert Syndrome 2 |
|
Central apnea, Episodic tachypnea, Neonatal breathing dysregulation |
OMIM:608091 |
22Q11.2 Deletion Syndrome |
|
Splenomegaly, Hypoplasia of the thymus, Hypocalcemia, Thrombocytopenia |
ORPHA:567 |
Heterotaxy, Visceral, 1, X-Linked |
|
Respiratory distress, Cyanosis |
OMIM:306955 |
Dermatomyositis |
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Telangiectasia of the skin, Erythema, Respiratory insufficiency, Acrocyanosis, Pulmonary arterial... |
ORPHA:221 |
Hutchinson-Gilford Progeria Syndrome |
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Prominent superficial blood vessels, Cyanosis, Upper airway obstruction, Pulmonary arterial hyper... |
ORPHA:740 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
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Pulmonary arterial hypertension, Tachypnea |
OMIM:613834 |
Arima Syndrome |
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Dyspnea, Polydipsia, Tachypnea |
OMIM:243910 |
Scorpion Envenomation |
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Restlessness, Erythema, Tachypnea, Abnormal nasal mucus secretion, Purpura |
ORPHA:466677 |
Familial Dysautonomia |
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Acrocyanosis |
ORPHA:1764 |
Pontocerebellar Hypoplasia Type 2 |
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Impaired oropharyngeal swallow response, Apnea, Oral-pharyngeal dysphagia |
ORPHA:2524 |
Cranioectodermal Dysplasia 1 |
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Hypocalcemia |
OMIM:218330 |
Truncus Arteriosus |
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Cyanosis, Tachypnea |
ORPHA:3384 |
Hyperoxaluria, Primary, Type I |
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Acrocyanosis, Cutis marmorata |
OMIM:259900 |
Orofaciodigital Syndrome Type 6 |
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Apnea, Episodic tachypnea |
ORPHA:2754 |
Congenital Total Pulmonary Venous Return Anomaly |
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Respiratory distress, Respiratory failure requiring assisted ventilation, Cyanosis, Paroxysmal dy... |
ORPHA:99125 |
Digeorge Syndrome |
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Splenomegaly, Anemia, Hypoplasia of the thymus, Hypocalcemia, Thrombocytopenia |
OMIM:188400 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
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Hepatosplenomegaly, Hemolytic anemia, Hypocalcemia, Hypomagnesemia |
OMIM:619503 |
Primary Hyperoxaluria |
|
Acrocyanosis, Cutis marmorata |
ORPHA:416 |
Aicardi-Goutières Syndrome |
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Acrocyanosis, Cutis marmorata, Prolonged neonatal jaundice |
ORPHA:51 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
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Tachypnea |
ORPHA:415 |
Cardiac Valvular Dysplasia 1 |
|
Cyanosis |
OMIM:212093 |
Classical Ehlers-Danlos Syndrome |
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Prematurely aged appearance, Poor wound healing, Ecchymosis, Acrocyanosis, Fragile skin, Bruising... |
ORPHA:287 |
Charge Syndrome |
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Lymphopenia, Hypocalcemia, Webbed neck |
OMIM:214800 |
Generalized Arterial Calcification Of Infancy |
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Respiratory distress, Pulmonary arterial hypertension, Cyanosis |
ORPHA:51608 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
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Death in infancy, Tachypnea, Dysphagia |
OMIM:220111 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
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Hypocalcemia |
OMIM:620330 |
Autosomal Recessive Hypophosphatemic Rickets |
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Hypocalcemic tetany, Hypophosphatemic rickets, Renal hypophosphatemia |
ORPHA:289176 |
Orofaciodigital Syndrome Type 2 |
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Tachypnea, Apnea |
ORPHA:2751 |
Congenitally Corrected Transposition Of The Great Arteries |
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Cyanosis |
ORPHA:216694 |
Coffin-Lowry Syndrome |
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Acrocyanosis, Cutis marmorata |
OMIM:303600 |
Hypermobile Ehlers-Danlos Syndrome |
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Acrocyanosis, Apnea |
ORPHA:285 |
Johanson-Blizzard Syndrome |
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Conjugated hyperbilirubinemia, Splenomegaly, Hypocalcemia, Increased VLDL cholesterol concentration |
OMIM:243800 |
Pontocerebellar Hypoplasia, Type 2D |
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OMIM:613811 |