Muscle Cramps, Familial |
|
Elevated circulating creatine kinase concentration |
OMIM:158400 |
Cramps, Familial Adolescent |
|
Elevated circulating creatine kinase concentration |
OMIM:218050 |
Plasma Fibronectin Deficiency |
|
Reduced circulating fibronectin level |
OMIM:614101 |
Pentosuria |
|
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level |
ORPHA:2843 |
Hypoparathyroidism, Familial Isolated, 2 |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:618883 |
Hypocalcemia, Autosomal Dominant 2 |
|
Abnormal blood phosphate concentration, Hypocalcemia |
OMIM:615361 |
Hypomagnesemia 1, Intestinal |
|
Hypocalcemia, Hypomagnesemia |
OMIM:602014 |
Pseudohypoparathyroidism, Type Ii |
|
Hyperphosphatemia, Hypocalcemia, Pseudohypoparathyroidism |
OMIM:203330 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
Hypocalcemia |
DECIPHER:16 |
Isolated Asymptomatic Elevation Of Creatine Phosphokinase |
|
Elevated creatine kinase after exercise, Elevated circulating creatine kinase concentration |
ORPHA:206599 |
Hyperparathyroidism 1 |
|
Primary hyperparathyroidism, Hypercalcemia |
OMIM:145000 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Parathyroid agenesis, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Congenital hypoparathyroid... |
ORPHA:2239 |
Parathyroid Carcinoma |
|
Hyperparathyroidism, Parathyroid carcinoma, Hypercalcemia |
OMIM:608266 |
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates |
|
Elevated circulating creatine kinase concentration |
ORPHA:88635 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Hypoparathyroidism, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:146200 |
Adamantinoma |
|
Hypercalcemia |
ORPHA:55881 |
Pseudohypoparathyroidism, Type Ib |
|
Hyperphosphatemia, Hypocalcemia, Pseudohypoparathyroidism |
OMIM:603233 |
Blue Diaper Syndrome |
|
Abnormal circulating tryptophan concentration, Hypercalcemia |
OMIM:211000 |
Ulna Metaphyseal Dysplasia Syndrome |
|
Hypercalcemia |
OMIM:191420 |
Pseudohypoparathyroidism Type 2 |
|
Calcinosis, Pseudohypoparathyroidism, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypoc... |
ORPHA:94090 |
Stuve-Wiedemann Syndrome 2 |
|
Respiratory distress, Death in adolescence, Stillbirth, Dysphagia, Neonatal death, Pulmonary arte... |
OMIM:619751 |
Myopathy, Tubular Aggregate, 2 |
|
Hypocalcemia, Elevated circulating creatine kinase concentration |
OMIM:615883 |
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia |
OMIM:620152 |
Hyperparathyroidism 4 |
|
Primary hyperparathyroidism, Parathyroid carcinoma, Hypercalcemia |
OMIM:617343 |
Vitamin D-Dependent Rickets, Type 3 |
|
Hypocalcemia, Hypophosphatemia |
OMIM:619073 |
Secondary Hypoparathyroidism Due To Impaired Parathormon Secretion |
|
Abnormal circulating calcium concentration, Abnormality of the parathyroid gland, Secondary hyper... |
ORPHA:140286 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration |
OMIM:619658 |
2P21 Microdeletion Syndrome |
|
Hypogonadism, Hypocalcemia |
ORPHA:163693 |
Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Dyspnea, Upper airway obstruction, Weight loss, Aspiration pneumonia |
ORPHA:141152 |
Hypocalcemia, Autosomal Dominant 1 |
|
Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia |
OMIM:601198 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Respiratory distress, Anorexia, Splenomegaly, Optic atrophy, Anemia, Choreoathetosis, Neutropenia... |
ORPHA:79312 |
Congenital Myopathy 10A, Severe Variant |
|
Respiratory distress, Facial palsy, Abnormal motor nerve conduction velocity, Respiratory insuffi... |
OMIM:614399 |
Erythrocyte Lactate Transporter Defect |
|
Elevated circulating creatine kinase concentration |
OMIM:245340 |
Progressive Familial Intrahepatic Cholestasis |
|
Hypocalcemia |
ORPHA:172 |
Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Bronchial breath sound, Neutrophilia, Anorexia, Crackles, Nonproductive cou... |
ORPHA:1302 |
Developmental And Epileptic Encephalopathy 30 |
|
Respiratory distress, Death in infancy, Abnormal repetitive mannerisms |
OMIM:616341 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Hypocalcemic tetany, Congenital hypoparathyroidism, Hypocalcemia, Hypocalcemic seizures |
ORPHA:93324 |
Renal Tubular Acidosis, Distal, 1 |
|
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia |
OMIM:179800 |
Alpha-Heavy Chain Disease |
|
Hypocalcemia |
ORPHA:100025 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypercholesterolemia, Hypertriglyceridemia, Hypocalcemia |
OMIM:612526 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Respiratory distress, Sideroblastic anemia, Respiratory insufficiency due to muscle weakness, Dys... |
OMIM:613561 |
Recurrent Respiratory Papillomatosis |
|
Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction... |
ORPHA:60032 |
Autoimmune Hypoparathyroidism |
|
Autoimmune hypoparathyroidism, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic... |
ORPHA:36913 |
Pleural Mesothelioma |
|
Respiratory distress, Dyspnea, Abnormal respiratory system physiology, Dysphagia, Weight loss, Co... |
ORPHA:50251 |
Immunodeficiency 95 |
|
Respiratory distress, Respiratory failure, Lymphopenia, Recurrent viral pneumonia |
OMIM:619773 |
Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... |
OMIM:254210 |
Gaucher Disease Type 2 |
|
Respiratory distress, Splenomegaly, Dysphagia, Cough, Abnormal pattern of respiration |
ORPHA:77260 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Respiratory distress, Facial palsy, Respiratory insufficiency due to muscle weakness, Decreased b... |
OMIM:300580 |
Malaria |
|
Anemia, Respiratory distress, Thrombocytopenia |
ORPHA:673 |
Familial Isolated Hypoparathyroidism |
|
Hypoparathyroidism, Hypocalcemia |
ORPHA:2238 |
Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... |
OMIM:605809 |
Perching Syndrome |
|
Respiratory distress, Dysphagia |
OMIM:617055 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Respiratory distress, Chorea, Optic atrophy, Anemia, Choreoathetosis, Neutropenia, Thrombocytopenia |
ORPHA:289916 |
Bronchopulmonary Dysplasia |
|
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Small fo... |
ORPHA:70589 |
Pseudohypoparathyroidism, Type Ic |
|
Pseudohypoparathyroidism, Hyperphosphatemia, Hypogonadism, Hypocalcemia, Hypocalcemic tetany |
OMIM:612462 |
Congenital Disorder Of Glycosylation, Type Ix |
|
Respiratory distress, Optic atrophy, Death in childhood, Failure to thrive, Thrombocytopenia |
OMIM:615597 |
Hypomyelination Neuropathy-Arthrogryposis Syndrome |
|
Respiratory distress |
ORPHA:2680 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Decreased response to growth hormone stimulation test, Cryptorchidism, Hyperphosphatemia, Hypocal... |
OMIM:241410 |
Emphysema, Congenital Lobar |
|
Respiratory distress |
OMIM:130710 |
Muscular Hypertonia, Lethal |
|
Respiratory distress, Death in infancy, Pneumonia |
OMIM:254120 |
Hypotonia-Cystinuria Syndrome |
|
Hypergonadotropic hypogonadism, Hypocalcemia, Decreased response to growth hormone stimulation test |
OMIM:606407 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Hyperparathyroidism, Hypercalcemia |
ORPHA:2668 |
Pseudopseudohypoparathyroidism |
|
Hyperphosphatemia, Hypocalcemia |
ORPHA:79445 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory distress, Failure to thrive in infancy, Respiratory insufficiency due to muscle weakn... |
ORPHA:254875 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Hypospadias, Hypercalcemia, Decreased response to growth hormone stimulation test, Cryptorchidism... |
OMIM:614732 |
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Hyperparathyroidism, Hypercalcemia |
OMIM:239199 |
Holocarboxylase Synthetase Deficiency |
|
Respiratory distress, Ataxia, Anorexia, Tachypnea, Weight loss, Thrombocytopenia |
ORPHA:79242 |
Hypercalcemia, Infantile, 2 |
|
Hypercalcemia, Hypophosphatemia |
OMIM:616963 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Hypocalcemia, Hypophosphatemia |
ORPHA:89937 |
Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Neutrophilia, Pneumonia, Nonproductive cough, Leukocytosis, Tachypnea, Dysp... |
ORPHA:36238 |
Kenny-Caffey Syndrome, Type 1 |
|
Congenital hypoparathyroidism, Hypocalcemia, Hypomagnesemia |
OMIM:244460 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Failure to thrive, Optic atrophy |
ORPHA:26792 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Respiratory distress, Ataxia |
OMIM:619099 |
Stt3B-Cdg |
|
Respiratory distress, Failure to thrive, Optic atrophy, Thrombocytopenia |
ORPHA:370924 |
Refractory Celiac Disease |
|
Hypomagnesemia, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia |
ORPHA:398063 |
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Respiratory distress |
ORPHA:171703 |
Oculoskeletodental Syndrome |
|
Hypercalcemia, Hypocalcemia |
ORPHA:557003 |
Ring Chromosome 10 Syndrome |
|
Hypocalcemia |
ORPHA:1438 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Ataxia, Facial palsy, D... |
OMIM:211530 |
Hypocalciuric Hypercalcemia, Familial, Type I |
|
Parathyroid adenoma, Hyperparathyroidism, Hypermagnesemia, Hypercalcemia |
OMIM:145980 |
Pseudohypoparathyroidism Type 1B |
|
Calcinosis, Decreased response to growth hormone stimulation test, Pseudohypoparathyroidism, Hype... |
ORPHA:94089 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Respiratory distress, Cachexia, Weight loss, Gait ataxia, Failure to thrive |
OMIM:612075 |
N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress, Failure to thrive, Aggressive behavior |
OMIM:237310 |
Severe X-Linked Mitochondrial Encephalomyopathy |
|
Respiratory distress, Respiratory insufficiency |
ORPHA:238329 |
Bardet-Biedl Syndrome 16 |
|
Respiratory distress, Obesity |
OMIM:615993 |
Granulomatous Slack Skin |
|
Hypercalcemia |
ORPHA:33111 |
Sanjad-Sakati Syndrome |
|
Hypoparathyroidism, Hypoplasia of penis, Cryptorchidism, Hyperphosphatemia, Hypocalcemia, Congeni... |
ORPHA:2323 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Hyperparathyroidism, Pancreatic adenocarcinoma, Hypercalcemia, Parathyroid carcinoma, Parathyroid... |
OMIM:145001 |
Diffuse Neonatal Hemangiomatosis |
|
Abnormal vagina morphology, Hypercalcemia |
ORPHA:2123 |
Dahlberg-Borer-Newcomer Syndrome |
|
Hypoparathyroidism, Hypocalcemia |
ORPHA:1563 |
Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:1832 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Hypokalemia, Hypocalcemia, Hypomagnesemia |
OMIM:175500 |
Avian Influenza |
|
Respiratory distress, Miscarriage, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tac... |
ORPHA:454836 |
Small Cell Carcinoma Of The Bladder |
|
Hypercalcemia |
ORPHA:284400 |
Intermediate Osteopetrosis |
|
Hypocalcemia |
ORPHA:210110 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Secondary hyperparathyroidism, Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia |
OMIM:264700 |
Triosephosphate Isomerase Deficiency |
|
Normocytic anemia, Optic disc pallor, Macrocytic anemia, Hemolytic anemia, Death in infancy, Resp... |
OMIM:615512 |
Colchicine Poisoning |
|
Hyponatremia, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypo... |
ORPHA:31824 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Respiratory distress, Ataxia, Respiratory insufficiency due to muscle weakness, Optic atrophy, Tr... |
OMIM:220110 |
Familial Isolated Hyperparathyroidism |
|
Parathyroid adenoma, Primary hyperparathyroidism, Hypercalcemia, Hypophosphatemia |
ORPHA:99879 |
Combined Oxidative Phosphorylation Deficiency 30 |
|
Respiratory distress, Death in infancy, Failure to thrive |
OMIM:616974 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Small scrotum, Hypospadias, Cryptorchidism, Hypocalcemia, Micropenis |
OMIM:607143 |
Genetic Recurrent Myoglobinuria |
|
Highly elevated creatine kinase, Hyperphosphatemia, Hyperkalemia, Hypocalcemia |
ORPHA:99845 |
Oculoskeletodental Syndrome |
|
Hypercalcemia, Hypocalcemia, Cryptorchidism |
OMIM:618440 |
Slc35A1-Cdg |
|
Respiratory distress, Pneumonia, Giant platelets, Hypoxemia, Neutropenia, Abnormal platelet granu... |
ORPHA:238459 |
Albers-Schönberg Osteopetrosis |
|
Hypocalcemia |
ORPHA:53 |
Gracile Bone Dysplasia |
|
Micropenis, Hypocalcemia |
OMIM:602361 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Hypocalcemia, Hypophosphatemia |
OMIM:600081 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Failure to thrive in in... |
ORPHA:264675 |
Congenital Disorder Of Glycosylation, Type Iy |
|
Respiratory distress, Failure to thrive |
OMIM:300934 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Cryptorchidism, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia |
OMIM:618183 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Hyperparathyroidism, Hypocalcemia, Hypophosphatemia |
ORPHA:93160 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Respiratory distress, Somatic sensory dysfunction, Dysphagia |
ORPHA:240103 |
Myopathy And Diabetes Mellitus |
|
Respiratory distress, Progressive cerebellar ataxia, Impaired vibratory sensation |
ORPHA:2596 |
Anaplastic Thyroid Carcinoma |
|
Respiratory distress, Dyspnea, Upper airway obstruction, Dysphagia, Weight loss, Stridor, Cough |
ORPHA:142 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Cryptorchidism, Pancreatic lymphangiectasis, Abnormality of the uterus, Hypocalcemia, Abnormal fa... |
ORPHA:1655 |
Folinic Acid-Responsive Seizures |
|
Respiratory distress, Apnea, Ataxia, Chorea, Optic atrophy |
ORPHA:79097 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Hypoparathyroidism, Septate vagina, Uterus didelphys, Parathyroid hypoplasia, Hypocalcemia, Aplas... |
ORPHA:2237 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Death in infancy, Neonatal respiratory distress, Nonspecific interstitial p... |
OMIM:610921 |
Congenital Disorder Of Glycosylation, Type Iu |
|
Respiratory distress, Death in infancy, Neonatal respiratory distress, Optic atrophy |
OMIM:615042 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Respiratory distress, Crackles, Dyspnea, Chronic pulmonary obstruction, Pneumothorax, Bronchiecta... |
ORPHA:411703 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Respiratory distress, Neuromuscular dysphagia |
ORPHA:240085 |
Timothy Syndrome |
|
Hypocalcemia |
OMIM:601005 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Respiratory distress, Failure to thrive |
ORPHA:91130 |
Alpha-Fetoprotein, Hereditary Persistence Of |
|
Elevated circulating alpha-fetoprotein concentration |
OMIM:615970 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hyperparathyroidism, Hypercalcemia, Parathyroid hyperplasia, Hypophosphatemia, Hypophosphatemic r... |
OMIM:612089 |
Congenital Disorder Of Glycosylation, Type Ie |
|
Respiratory distress, Ataxia, Splenomegaly, Optic atrophy, Failure to thrive |
OMIM:608799 |
Igg4-Related Thyroid Disease |
|
Pancreatic fibrosis, Abnormal pituitary gland morphology, Euthyroid goiter, Hypocalcemia, Nodular... |
ORPHA:64744 |
Pseudohypoparathyroidism Type 1C |
|
Calcinosis, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test... |
ORPHA:79444 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Cryptorchidism, Pancreatic lymphangiectasis, Hypocalcemia, Micropenis, Hypoproteinemia |
OMIM:235255 |
Tularemia |
|
Respiratory distress, Pneumonia, Leukocytosis, Anemia, Cough, Pleural effusion, Thrombocytopenia |
ORPHA:3392 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory distress, Death in infancy, Ataxia, Tachypnea, Optic atrophy, Respiratory insufficien... |
OMIM:614299 |
X-Linked Agammaglobulinemia |
|
Hypocalcemia |
ORPHA:47 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Tachypnea, Respiratory failure, Cough, Failure to thrive |
OMIM:263000 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Secondary hyperparathyroidism, Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia |
ORPHA:289157 |
Blue Diaper Syndrome |
|
Hyperphosphatemia, Hypercalcemia |
ORPHA:94086 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Degeneration of anterior horn cells, Abnormal anterior horn cell morphology, Respiratory distress... |
ORPHA:1145 |
Laryngotracheal Angioma |
|
Respiratory distress, Intercostal retractions, Apnea, Wheezing, Stridor, Cough |
ORPHA:137935 |
Chronic Pneumonitis Of Infancy |
|
Respiratory distress, Intercostal retractions, Reduced forced vital capacity, Tachypnea, Hypoxemi... |
ORPHA:91359 |
Primary Intestinal Lymphangiectasia |
|
Hypoproteinemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia |
ORPHA:90362 |
Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Primary hyperparathyroidism, Hypermagnesemia, Hypercalcemia |
OMIM:145981 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Parathyroid hyperplasia, Hyperphosphatemia, Hypercalcemia |
OMIM:617994 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress, Ataxia, Agitation, Failure to thrive, Abnormal repetitive mannerisms |
ORPHA:927 |
Generalized Pustular Psoriasis |
|
Hyponatremia, Hypoalbuminemia, Hypocalcemia, Elevated circulating C-reactive protein concentration |
ORPHA:247353 |
Gaucher Disease, Perinatal Lethal |
|
Respiratory distress, Apnea, Splenomegaly, Hepatosplenomegaly, Anemia, Dysphagia, Neonatal death,... |
OMIM:608013 |
Severe Acute Respiratory Syndrome |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu... |
ORPHA:140896 |
Cardiomyopathy, Dilated, 1Gg |
|
Respiratory distress |
OMIM:613642 |
Cholera |
|
Hyponatremia, Hypocalcemia, Hypokalemia, Abnormal blood ion concentration |
ORPHA:173 |
Nipah Virus Disease |
|
Respiratory distress, Anorexia, Cough |
ORPHA:99825 |
Kenny-Caffey Syndrome, Type 2 |
|
Hypoparathyroidism, Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia |
OMIM:127000 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating creatine kinase concentration, Increased circulating free fatty acid level, ... |
ORPHA:26793 |
Abcd Syndrome |
|
Aganglionic megacolon, Abnormal auditory evoked potentials, Large for gestational age, Total inte... |
OMIM:600501 |
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures |
|
Respiratory distress |
OMIM:617977 |
Acute Lung Injury |
|
Respiratory distress, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory failure, Addictive al... |
ORPHA:178320 |
Succinic Acidemia |
|
Respiratory distress |
OMIM:600335 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Respiratory distress, Bronchiectasis, Abnormal mucociliary clearance |
OMIM:619466 |
Primary Dystonia, Dyt4 Type |
|
Respiratory distress, Dysdiadochokinesis, Eunuchoid habitus, Dysphagia |
ORPHA:98805 |
Oncogenic Osteomalacia |
|
Hypocalcemia, Hypophosphatemia |
ORPHA:352540 |
Thyroid Lymphoma |
|
Respiratory distress, Dyspnea, Upper airway obstruction, Stridor, Dysphagia |
ORPHA:97285 |
Double Outlet Right Ventricle |
|
Hypoparathyroidism, Hypocalcemia |
ORPHA:3426 |
Neuroleptic Malignant Syndrome |
|
Hyponatremia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia... |
ORPHA:94093 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Respiratory distress, Hypoplastic spleen, Dysphagia |
ORPHA:89844 |
Congenital Pulmonary Lymphangiectasia |
|
Respiratory distress, Splenomegaly, Chronic pulmonary obstruction, Cough, Pulmonary arterial hype... |
ORPHA:2414 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Respiratory distress, Neonatal respiratory distress, Ataxia, Crackles, Asthma, Tachypnea, Wheezin... |
OMIM:610978 |
Pseudohypoparathyroidism Type 1A |
|
Calcinosis, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test... |
ORPHA:79443 |
Osteopetrosis, Autosomal Recessive 1 |
|
Hypocalcemia |
OMIM:259700 |
Acquired Methemoglobinemia |
|
Respiratory distress, Dyspnea, Methemoglobinemia, Hypoxemia |
ORPHA:464453 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Respiratory distress, Respiratory insufficiency, Hepatosplenomegaly, Abnormal neuron branching, F... |
ORPHA:367 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive |
|
Respiratory distress, Failure to thrive, Lymphocytic interstitial pneumonia |
OMIM:245590 |
Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalce... |
ORPHA:411634 |
Muscular Dystrophy, Congenital, With Or Without Seizures |
|
Respiratory distress, Respiratory failure, Ataxia, Dysphagia |
OMIM:620166 |
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Ventilator dependence w... |
ORPHA:254864 |
Hypercalcemia, Infantile, 1 |
|
Hypercalcemia |
OMIM:143880 |
Mitochondrial Trifunctional Protein Deficiency |
|
Hypoparathyroidism, Hypocalcemia |
ORPHA:746 |
Myotonic Dystrophy 1 |
|
Respiratory distress, Facial diplegia, Obsessive-compulsive trait, Dysphagia |
OMIM:160900 |
Laryngomalacia |
|
Respiratory distress, Congenital laryngeal stridor |
OMIM:150280 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Reduced force... |
OMIM:610913 |
Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea |
OMIM:267450 |
Brain-Lung-Thyroid Syndrome |
|
Respiratory distress, Hyperactivity, Neonatal respiratory distress, Ataxia, Abnormal eating behav... |
ORPHA:209905 |
Pseudohypoparathyroidism, Type Ia |
|
Hypocalcemic tetany, Hyperphosphatemia, Hypogonadism, Pseudohypoparathyroidism |
OMIM:103580 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Hypocalcemia |
OMIM:618476 |
Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Respiratory distress, Pancytopenia, Neonatal respiratory distress, Small ... |
OMIM:260400 |
Tetanus |
|
Respiratory distress, Tachypnea, Abnormal autonomic nervous system physiology, Autonomic bladder ... |
ORPHA:3299 |
Idiopathic Neonatal Atrial Flutter |
|
Respiratory distress, Tachypnea, Large for gestational age |
ORPHA:45452 |
Moebius Syndrome |
|
Respiratory distress, Facial diplegia, Dysdiadochokinesis, Dysphagia |
OMIM:157900 |
Auriculocondylar Syndrome 2A |
|
Respiratory distress, Apnea |
OMIM:614669 |
Autosomal Dominant Hypocalcemia |
|
Hyperphosphatemia, Hypocalcemia, Hypomagnesemia |
ORPHA:428 |
Uremic Pruritus |
|
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen |
ORPHA:94059 |
Mitochondrial Pyruvate Carrier Deficiency |
|
Respiratory distress |
OMIM:614741 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Hypocalcemic tetany, Hypocalcemia, Hypomagnesemia |
ORPHA:73224 |
Oromandibular Dystonia |
|
Respiratory distress, Weight loss, Dysphagia, Bruxism |
ORPHA:93958 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Respiratory distress, Small for gestational age |
OMIM:616733 |
Methylmalonic Aciduria, Cblb Type |
|
Respiratory distress, Pancytopenia, Anemia, Neutropenia, Failure to thrive, Thrombocytopenia |
OMIM:251110 |
Thymic Neuroendocrine Tumor |
|
Pancreatic islet cell adenoma, Hypercalcemia, Pituitary null cell adenoma, Pituitary adenoma, Pri... |
ORPHA:97289 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Respiratory distress, Leukopenia, Neutropenia, Failure to thrive, Thrombocytopenia |
OMIM:251000 |
Alternating Hemiplegia Of Childhood |
|
Respiratory distress, Apnea, Ataxia, Anorexia, Aggressive behavior, Oral-pharyngeal dysphagia, Im... |
ORPHA:2131 |
Bacterial Toxic-Shock Syndrome |
|
Hypocalcemia, Elevated circulating creatinine concentration, Hypoalbuminemia, Elevated circulatin... |
ORPHA:36234 |
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Respiratory distress, Restlessness, Failure to thrive |
ORPHA:544503 |
Hypophosphatasia |
|
Hypercalcemia |
ORPHA:436 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Hyponatremia, Calcinosis, Hypokalemia, Hypocalcemia |
OMIM:617913 |
Rhabdoid Tumor |
|
Hypercalcemia |
ORPHA:69077 |
Japanese Encephalitis |
|
Decreased motor nerve conduction velocity, Hyperintensity of MRI T2 signal of the spinal cord, Re... |
ORPHA:79139 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Abnormal blood ion concentration, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Decreased prealb... |
ORPHA:37042 |
Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Respiratory distress, Failure to thrive |
ORPHA:261304 |
Mucopolysaccharidosis-Plus Syndrome |
|
Respiratory distress, Splenomegaly, Recurrent pneumonia, Optic atrophy, Anemia, Leukopenia, Death... |
OMIM:617303 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Absent gallbladder, Hypospadias, Cryptorchidism, Hypocalcemia, Hyperbilirubinemia, Micropenis |
ORPHA:163979 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Pheochromocytoma, Hypercalcemia |
OMIM:171420 |
Craniofacioskeletal Syndrome |
|
Absent gallbladder, Hypospadias, Hypocalcemia, Cryptorchidism |
OMIM:300712 |
X-Linked Centronuclear Myopathy |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia |
ORPHA:596 |
Velocardiofacial Syndrome |
|
Hypoparathyroidism, Cryptorchidism, Hypocalcemia |
OMIM:192430 |
Celiac Disease, Susceptibility To, 1 |
|
Hypocalcemia |
OMIM:212750 |
Diaphanospondylodysostosis |
|
Respiratory distress, Myelomeningocele |
ORPHA:66637 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Respiratory distress, Dyspnea, Cough |
ORPHA:86812 |
Neurogenic Arthrogryposis Multiplex Congenita |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness |
ORPHA:1143 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Respiratory distress, Optic atrophy, Attention deficit hyperactivity disorder, Gait ataxia |
OMIM:619383 |
Choanal Atresia |
|
Respiratory distress, Upper airway obstruction, Choking episodes, Tracheomalacia, Chronic sinusit... |
ORPHA:137914 |
Congenital Enterovirus Infection |
|
Respiratory distress, Abnormal macrophage morphology, Leukocytosis, Anemia, Leukopenia, Neutropen... |
ORPHA:292 |
Hypoglossia With Situs Inversus |
|
Asplenia, Upper airway obstruction, Respiratory distress, Polysplenia |
OMIM:612776 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Primary hyperparathyroidism, Hypermagnesemia, Hypercalcemia, Hypophosphatemia |
OMIM:600740 |
Idiopathic Hypereosinophilic Syndrome |
|
Respiratory distress, Somatic sensory dysfunction, Neutrophilia, Eosinophilia, Pulmonary embolism... |
ORPHA:3260 |
Toxic Epidermal Necrolysis |
|
Respiratory distress, Cough, Neutropenia, Weight loss, Anemia, Restrictive ventilatory defect, Dy... |
ORPHA:537 |
Myotubular Myopathy With Abnormal Genital Development |
|
Neonatal death, Death in infancy, Respiratory distress |
OMIM:300219 |
Meconium Aspiration Syndrome |
|
Respiratory distress, Neonatal asphyxia, Wheezing, Pneumothorax, Hypoxemia, Aspiration pneumonia,... |
ORPHA:70588 |
Isolated Atp Synthase Deficiency |
|
Respiratory distress, Optic atrophy, Ataxia |
ORPHA:254913 |
Glucose-Galactose Malabsorption |
|
Hypernatremia, Hypercalcemia |
ORPHA:35710 |
Congenital Lobar Emphysema |
|
Respiratory distress, Emphysema |
ORPHA:1928 |
Congenital Myasthenic Syndrome |
|
Sudden episodic apnea, Ataxia, Intermittent episodes of respiratory insufficiency due to muscle w... |
ORPHA:590 |
Presynaptic Congenital Myasthenic Syndromes |
|
Sudden episodic apnea, Ataxia, Intermittent episodes of respiratory insufficiency due to muscle w... |
ORPHA:98914 |
Familial Nasal Acilia |
|
Respiratory distress, Dyspnea, Bronchiectasis, Chronic rhinitis, Chronic sinusitis |
ORPHA:922 |
Infantile Myofibromatosis |
|
Neoplasm of the pancreas, Hypercalcemia |
ORPHA:2591 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hypocalcemia, Hyperbilirubinemia |
OMIM:259720 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6 |
|
Respiratory distress, Paradoxical respiration |
OMIM:620011 |
Methylmalonic Aciduria, Cbla Type |
|
Respiratory distress, Pancytopenia, Anemia, Neutropenia, Failure to thrive, Thrombocytopenia |
OMIM:251100 |
Lethal Recessive Chondrodysplasia |
|
Respiratory distress |
ORPHA:1423 |
Synaptic Congenital Myasthenic Syndromes |
|
Respiratory distress, Hypoventilation, Neonatal respiratory distress, Facial palsy, Respiratory i... |
ORPHA:98915 |
Oculocerebrofacial Syndrome, Kaufman Type |
|
Respiratory distress, Dyspnea, Optic atrophy, Respiratory failure, Failure to thrive |
ORPHA:2707 |
Infantile Krabbe Disease |
|
Respiratory distress, Prolonged brainstem auditory evoked potentials, Cachexia, Decreased nerve c... |
ORPHA:206436 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Elevated creatine kinase after exercise, Hypercalcemia |
ORPHA:284426 |
Oculopharyngodistal Myopathy 1 |
|
Respiratory distress, Ataxia, Facial palsy, Hypercapnia, Reduced forced vital capacity, Respirato... |
OMIM:164310 |
Sepsis In Premature Infants |
|
Small for gestational age, Abnormal mucociliary clearance, Splenomegaly, Leukocytosis, Dyspnea, N... |
ORPHA:90051 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Respiratory distress, Central apnea, Hydrocephalus, Respiratory failure, Neonatal death, Pulmonar... |
OMIM:616482 |
Ethylene Glycol Poisoning |
|
Hyperkalemia, Hypocalcemia |
ORPHA:31826 |
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Respiratory distress, Macrocytic anemia, Granulocytopenia |
OMIM:606164 |
Non-Functioning Paraganglioma |
|
Hypercalcemia |
ORPHA:94080 |
Q Fever |
|
Respiratory distress, Pneumonia, Anorexia, Splenomegaly, Hepatosplenomegaly, Anemia, Weight loss,... |
ORPHA:781 |
3-Methylglutaconic Aciduria, Type Viib |
|
Respiratory distress, Ataxia, Recurrent pneumonia, Choreoathetosis, Leukopenia, Neutropenia, Thro... |
OMIM:616271 |
Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Primary hyperparathyroidism, Hypercalcemia, Hypophosphatemia |
OMIM:239200 |
Spinal muscular atrophy, type I, with congenital bone fractures |
|
Degeneration of anterior horn cells, Respiratory distress |
OMIM:271225 |
Mercury Poisoning |
|
Respiratory distress, Anorexia, Dyspnea, Respiratory failure, Interstitial pneumonitis |
ORPHA:330021 |
Pearson Syndrome |
|
Hypoparathyroidism, Pancreatic fibrosis, Decreased response to growth hormone stimulation test, H... |
ORPHA:699 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Death in infancy, Neonatal respiratory distress, Apnea, Dyspnea, Tachypnea, Respiratory failure, ... |
OMIM:265120 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Respiratory distress, Ataxia, Megaloblastic anemia, Pulmonary embolism, Atrophy of the spinal cor... |
ORPHA:79282 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Respiratory distress, Death in infancy, Inspiratory stridor, Irregular respiration |
OMIM:604377 |
Odontochondrodysplasia |
|
Respiratory distress, Death in infancy |
ORPHA:166272 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Respiratory distress, Reticulocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Thrombo... |
OMIM:274150 |
Carnitine Deficiency, Systemic Primary |
|
Respiratory distress, Failure to thrive |
OMIM:212140 |
Multiple Endocrine Neoplasia, Type I |
|
Pancreatic islet cell adenoma, Hypercalcemia, Elevated circulating growth hormone concentration, ... |
OMIM:131100 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:2759 |
Diamond-Blackfan Anemia 10 |
|
Respiratory distress, Macrocytic anemia, Reticulocytopenia, Steroid-responsive anemia, Anemia |
OMIM:613309 |
Congenital Laryngeal Web |
|
Respiratory distress, Stridor |
ORPHA:2374 |
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Respiratory distress, Failure to thrive, Optic atrophy |
ORPHA:329178 |
Isotretinoin-Like Syndrome |
|
Hypocalcemia |
ORPHA:2306 |
Hypophosphatasia, Infantile |
|
Elevated plasma pyrophosphate, Hypercalcemia |
OMIM:241500 |
Mogs-Cdg |
|
Respiratory distress, Absent brainstem auditory responses, Hypoventilation, Apnea, Optic atrophy,... |
ORPHA:79330 |
Cartilage-Hair Hypoplasia |
|
Hypocalcemia |
ORPHA:175 |
Gitelman Syndrome |
|
Neoplasm of the pancreas, Hypermagnesemia, Hypokalemia, Hypocalcemia, Hypomagnesemia, Parathyroid... |
ORPHA:358 |
Farber Disease |
|
Respiratory distress, Respiratory insufficiency, Hepatosplenomegaly, Anemia, Failure to thrive, T... |
ORPHA:333 |
Ciliary Dyskinesia, Primary, 2 |
|
Respiratory distress, Sinusitis, Bronchiectasis, Immotile cilia, Ciliary dyskinesia |
OMIM:606763 |
Episodic Ataxia Type 1 |
|
Respiratory distress, Choreoathetosis |
ORPHA:37612 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Hypoparathyroidism, Hypercalcemia, Hypophosphatemia |
OMIM:156400 |
Lujo Hemorrhagic Fever |
|
Respiratory distress, Crackles, Nonproductive cough, Leukocytosis, Leukopenia, Rhinitis, Dysphagi... |
ORPHA:319213 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Apnea, Ataxia, Dyspnea, Chorea, Episodic respiratory distress, Optic atrophy, Gait ataxia, Dyspha... |
ORPHA:255210 |
Kasabach-Merritt Syndrome |
|
Respiratory distress, Reticulocytosis, Thrombocytopenia, Hypopnea, Leukopenia, Microangiopathic h... |
ORPHA:2330 |
Developmental And Epileptic Encephalopathy 68 |
|
Respiratory distress, Failure to thrive |
OMIM:618201 |
Biotinidase Deficiency |
|
Respiratory distress, Apnea, Ataxia, Optic neuropathy, Myelopathy, Optic atrophy, Hyperventilation |
ORPHA:79241 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Hyperphosphatemia, Hypocalcemic tetany, Congenital hypoparathyroidism, Decreased testicular size,... |
ORPHA:93325 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Small scrotum, Bile duct proliferation, Hypoalbuminemia, Hypocalcemia, Unconjugated hyperbilirubi... |
OMIM:613658 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Respiratory distress, Hydrocephalus, Optic atrophy, Hepatosplenomegaly, Anemia, Leukopenia, Strid... |
ORPHA:505248 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Respiratory distress, Holoprosencephaly, Abnormal cranial nerve morphology |
ORPHA:990 |
Congenital Disorder Of Deglycosylation 1 |
|
Respiratory distress, Restlessness, Pain insensitivity, Oral-pharyngeal dysphagia, Chorea, Dysmet... |
OMIM:615273 |
Late-Onset Isolated Acth Deficiency |
|
Hyponatremia, Hypoparathyroidism, Hypercalcemia, Pituitary adenoma, Adrenocorticotropic hormone d... |
ORPHA:199299 |
22Q11.2 Deletion Syndrome |
|
Hypoparathyroidism, Hypospadias, Cryptorchidism, Hypoplasia of the thymus, Abnormality of the ute... |
ORPHA:567 |
Ramos-Arroyo Syndrome |
|
Respiratory distress, Aganglionic megacolon, Abnormal autonomic nervous system physiology, Decrea... |
ORPHA:1051 |
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Respiratory distress, Death in infancy, Death in childhood, Respiratory failure, Chylothorax, Dys... |
OMIM:620278 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Respiratory distress, Pulmonary arterial hypertension, Failure to thrive |
OMIM:619272 |
Odontochondrodysplasia 1 |
|
Respiratory distress, Death in infancy |
OMIM:184260 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Respiratory distress, Death in infancy, Neonatal respiratory distress, Apnea, Ataxia, Hypopnea, D... |
OMIM:618426 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Respiratory distress, Stridor, Failure to thrive |
OMIM:615595 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Respiratory distress, Large for gestational age |
ORPHA:226313 |
Hemorrhagic Fever-Renal Syndrome |
|
Respiratory distress, Pneumonia, Epistaxis, Dyspnea, Leukocytosis, Anemia, Respiratory failure, A... |
ORPHA:340 |
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema |
|
Respiratory distress, Upper airway obstruction |
ORPHA:100057 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Hyperkalemia, Hypocalcemia |
ORPHA:544482 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Respiratory distress, Splenomegaly, Neutrophilia, Failure to thrive in infancy |
OMIM:612852 |
Congenital Tracheomalacia |
|
Neonatal respiratory distress, Apnea, Intercostal retractions, Pneumonia, Productive cough, Dyspn... |
ORPHA:95430 |
Liver Disease, Severe Congenital |
|
Hyponatremia, Hypospadias, Elevated circulating alpha-fetoprotein concentration, Biliary hyperpla... |
OMIM:619991 |
Exercise-Induced Malignant Hyperthermia |
|
Hypocalcemia, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
ORPHA:466650 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Respiratory distress, Stillbirth |
OMIM:151210 |
Esophageal Atresia |
|
Respiratory distress, Small for gestational age, Failure to thrive in infancy, Episodic respirato... |
ORPHA:1199 |
Tetrasomy 5P |
|
Respiratory distress, Pulmonary arterial hypertension, Hydrocephalus, Failure to thrive |
ORPHA:3309 |
Osteopetrosis With Renal Tubular Acidosis |
|
Hypocalcemia, Elevated circulating creatine kinase concentration, Secondary hyperparathyroidism |
ORPHA:2785 |
Hereditary Angioedema Type 1 |
|
Respiratory distress, Dyspnea, Paresthesia, Dysphagia, Inspiratory stridor |
ORPHA:100050 |
Lymphatic Malformation 7 |
|
Respiratory distress, Pleural effusion, Chylothorax, Anemia |
OMIM:617300 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Neonatal death, Respiratory distress |
OMIM:231680 |
Congenital Diaphragmatic Hernia |
|
Respiratory distress, Hypoxemia |
ORPHA:2140 |
Familial Hypocalciuric Hypercalcemia |
|
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Hypocalcemic seizures |
ORPHA:405 |
Agnathia-Otocephaly Complex |
|
Respiratory distress, Holoprosencephaly, Tracheomalacia |
OMIM:202650 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Apneic episodes... |
ORPHA:348 |
Cryptococcosis |
|
Respiratory distress, Lymphoid leukemia, Pneumonia, Dyspnea, Hydrocephalus, Cough, Pleural effusi... |
ORPHA:1546 |
Infant Acute Respiratory Distress Syndrome |
|
Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure |
ORPHA:70587 |
Hennekam Syndrome |
|
Hypocalcemia |
ORPHA:2136 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Respiratory distress |
OMIM:617102 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Extraadrenal pheochromocytoma, Hypercalcemia, Adrenal pheochromocytoma |
ORPHA:276621 |
Chitayat Syndrome |
|
Respiratory distress, Tracheomalacia |
OMIM:617180 |
Paget Disease Of Bone 2, Early-Onset |
|
Hypercalcemia |
OMIM:602080 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Aspiration pneumonia |
ORPHA:314655 |
Nasolacrimal Duct Cyst |
|
Intercostal retractions, Episodic respiratory distress, Stridor, Paroxysmal dyspnea, Abnormal bre... |
ORPHA:141083 |
Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Pituitary null cell adenoma, Hypercalcemia, Pituitary corticotropic cell ade... |
ORPHA:276152 |
Cranioectodermal Dysplasia 1 |
|
Hypocalcemia |
OMIM:218330 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Hypercalcemia, Increased blood urea nitrogen |
ORPHA:251004 |
Mgat2-Cdg |
|
Impaired lymphocyte transformation with phytohemagglutinin, Failure to thrive, Respiratory distre... |
ORPHA:79329 |
Autosomal Recessive Malignant Osteopetrosis |
|
Hypocalcemia, Hypophosphatemia |
ORPHA:667 |
Fibrous Dysplasia Of Bone |
|
Precocious puberty in females, Hypercalcemia, Elevated circulating growth hormone concentration, ... |
ORPHA:249 |
Pheochromocytoma |
|
Pheochromocytoma, Hypercalcemia |
OMIM:171300 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory distress, Respiratory failure |
OMIM:617895 |
Adnp Syndrome |
|
Respiratory distress, Aggressive behavior, Oral-pharyngeal dysphagia, Truncal obesity, Abnormal t... |
ORPHA:404448 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Pancreatic adenocarcinoma, Hypercalcemia, Testicular neoplasm, Primary hyperparathyroidism, Abnor... |
ORPHA:99880 |
Craniofaciofrontodigital Syndrome |
|
Respiratory distress, Dyspnea, Pulmonary arterial hypertension, Large for gestational age |
ORPHA:363705 |
Microlissencephaly-Micromelia Syndrome |
|
Respiratory distress, Failure to thrive |
ORPHA:50810 |
Parathyroid Carcinoma |
|
Pancreatic adenocarcinoma, Hypercalcemia, Testicular neoplasm, Primary hyperparathyroidism, Abnor... |
ORPHA:143 |
Prader-Willi Syndrome Due To Translocation |
|
Respiratory distress, Obesity, Head-banging, Abnormal temper tantrums, Skin-picking, Compulsive b... |
ORPHA:177907 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Decreased response to growth hormone stimulation test, Cryptorchidism, Small pituitary gland, Hyp... |
OMIM:619503 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Respiratory distress, Hydrocephalus, Optic atrophy |
ORPHA:1555 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory insufficien... |
ORPHA:308552 |
Ppoma |
|
Neoplasm of the pancreas, Hypercalcemia, Elevated circulating growth hormone concentration, Incre... |
ORPHA:97278 |
Nocardiosis |
|
Respiratory distress, Pneumonia, Anorexia, Productive cough, Nonproductive cough, Dyspnea, Pneumo... |
ORPHA:31204 |
Diaphanospondylodysostosis |
|
Respiratory distress, Tracheomalacia, Respiratory insufficiency |
OMIM:608022 |
Charge Syndrome |
|
Hypoparathyroidism, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulati... |
OMIM:214800 |
Bartter Syndrome, Type 1, Antenatal |
|
Hyperchloriduria, Hyperparathyroidism, Increased serum prostaglandin E2, Hypercalcemia, Hypochlor... |
OMIM:601678 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Respiratory distress, Apnea, Aggressive behavior, Choreoathetosis, Failure to thrive |
ORPHA:17 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory distress, Orthopnea, Respiratory insufficiency due to muscle weakness, Respiratory in... |
ORPHA:365 |
Digeorge Syndrome |
|
Parathyroid agenesis, Parathyroid hypoplasia, Hydrocele testis, Ovarian cyst, Hypoplasia of the t... |
OMIM:188400 |
Neuromuscular Oculoauditory Syndrome |
|
Decreased nerve conduction velocity, Aspiration, Respiratory distress, Decreased amplitude of sen... |
OMIM:618733 |
Monosomy 13Q34 |
|
Hypercalcemia |
ORPHA:96168 |
Acute Adrenal Insufficiency |
|
Hyponatremia, Hypercalcemia, Hyperkalemia, Increased circulating renin level, Hyperuricemia |
ORPHA:95409 |
Achondroplasia |
|
Respiratory distress, Death in infancy, Hydrocephalus, Upper airway obstruction |
OMIM:100800 |
Kniest Dysplasia |
|
Respiratory distress, Tracheomalacia |
OMIM:156550 |
Addison Disease |
|
Hyponatremia, Hypoparathyroidism, Primary testicular failure, Hypercalcemia, Hyperkalemia, Increa... |
ORPHA:85138 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Respiratory distress, Hydrocephalus |
OMIM:612863 |
Restrictive Dermopathy 2 |
|
Respiratory distress |
OMIM:619793 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Hypocalcemic tetany, Aplasia of the thymus |
ORPHA:83471 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Extraadrenal pheochromocytoma, Hypercalcemia, Adrenal pheochromocytoma |
ORPHA:29072 |
Spondyloepiphyseal Dysplasia Congenita |
|
Respiratory distress, Cervical myelopathy, Restrictive ventilatory defect |
OMIM:183900 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Hypercalcemia |
ORPHA:476126 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypoparathyroidism, Precocious puberty, Hypertriglyceridemia, Hypercalcemia |
ORPHA:369837 |
Pachyonychia Congenita |
|
Respiratory distress, Failure to thrive |
ORPHA:2309 |
Listeriosis |
|
Respiratory distress, Somatic sensory dysfunction, Miscarriage, Pneumonia, Ataxia, Hepatic granul... |
ORPHA:533 |
Vitamin D-Dependent Rickets, Type 2A |
|
Secondary hyperparathyroidism, Hypocalcemic seizures, Hypophosphatemia |
OMIM:277440 |
Vipoma |
|
Neoplasm of the pancreas, Hypercalcemia, Elevated circulating growth hormone concentration, Incre... |
ORPHA:97282 |
Grfoma |
|
Neoplasm of the pancreas, Hypercalcemia, Elevated circulating growth hormone concentration, Incre... |
ORPHA:97261 |
Inhalational Anthrax |
|
Respiratory distress, Dyspnea |
ORPHA:247257 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Respiratory distress, Ataxia |
ORPHA:438216 |
Johanson-Blizzard Syndrome |
|
Hypospadias, Increased VLDL cholesterol concentration, Septate vagina, Conjugated hyperbilirubine... |
OMIM:243800 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Small scrotum, Hypocalcemia |
OMIM:620330 |
Pfeiffer Syndrome Type 2 |
|
Aqueductal stenosis, Hydrocephalus, Respiratory distress, Tracheomalacia |
ORPHA:93259 |
Zollinger-Ellison Syndrome |
|
Hyperparathyroidism, Pituitary null cell adenoma, Hypercalcemia, Pituitary corticotropic cell ade... |
ORPHA:913 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Respiratory distress, Repeated pneumothoraces, Hydrocephalus, Respiratory insufficiency, Restrict... |
ORPHA:536467 |
Complete Atrioventricular Septal Defect |
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Intercostal retractions, Crackles, Wheezing, Tachypnea, Recurrent pneumonia, Elevated pulmonary a... |
ORPHA:1329 |
Beare-Stevenson Cutis Gyrata Syndrome |
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Respiratory distress, Hydrocephalus, Optic atrophy |
OMIM:123790 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
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Respiratory distress, Pain insensitivity, Ataxia, Distal sensory impairment, Painless fractures d... |
OMIM:256810 |
Somatostatinoma |
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Neoplasm of the pancreas, Hypercalcemia, Elevated circulating growth hormone concentration, Incre... |
ORPHA:97283 |
Congenital Alveolar Capillary Dysplasia |
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Asplenia, Pulmonary arterial hypertension, Aganglionic megacolon, Respiratory distress |
ORPHA:210122 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
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Respiratory distress, Neonatal respiratory distress, Tracheomalacia |
OMIM:217980 |
Osteogenesis Imperfecta, Type X |
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Respiratory distress, Recurrent pneumonia, Chronic lung disease, Death in childhood |
OMIM:613848 |
Cocaine Intoxication |
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Respiratory distress, Wheezing, Tachypnea, Pneumothorax, Agitation, Cough, Hyperventilation |
ORPHA:90068 |
Radio-Renal Syndrome |
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Respiratory distress, Dyspnea, Respiratory failure, Chylothorax, Pleural effusion |
ORPHA:3015 |
Hyperparathyroidism, Transient Neonatal |
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Communicating hydrocephalus, Respiratory distress, Splenic cyst |
OMIM:618188 |
Severe Generalized Junctional Epidermolysis Bullosa |
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Respiratory distress, Pneumonia, Dyspnea, Pneumothorax, Stridor, Respiratory failure, Failure to ... |
ORPHA:79404 |
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
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Aggressive behavior, Asthma, Nasal flaring, Obesity, Self-injurious behavior, Attention deficit h... |
ORPHA:466943 |
Multiple Myeloma |
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Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia |
ORPHA:29073 |
Pfeiffer Syndrome Type 3 |
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Aqueductal stenosis, Respiratory distress, Tracheomalacia |
ORPHA:93260 |
Tuberous Sclerosis Complex |
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Respiratory distress, Hyperactivity, Impulsivity, Aggressive behavior, Repetitive compulsive beha... |
ORPHA:805 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
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Respiratory distress, Pulmonary arterial hypertension |
ORPHA:2519 |
Meier-Gorlin Syndrome 1 |
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Respiratory distress, Death in infancy, Small for gestational age, Emphysema, Failure to thrive |
OMIM:224690 |
Autosomal Recessive Hypophosphatemic Rickets |
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Hypocalcemic tetany, Hypophosphatemic rickets, Renal hypophosphatemia |
ORPHA:289176 |
Glucagonoma |
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Neoplasm of the pancreas, Hypercalcemia, Elevated circulating growth hormone concentration, Incre... |
ORPHA:97280 |
Rubinstein-Taybi Syndrome 1 |
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Accessory spleen, Respiratory distress, Hyperactivity, Failure to thrive, Small for gestational a... |
OMIM:180849 |
Campomelic Dysplasia |
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Respiratory distress, Neonatal respiratory distress, Apnea, Spina bifida, Hydrocephalus, Spinal d... |
OMIM:114290 |
Multiple Endocrine Neoplasia Type 2 |
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Cervical neoplasm, Hypercalcemia, Thyroid C cell hyperplasia, Primary hyperparathyroidism, Parath... |
ORPHA:653 |
Leptospirosis |
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Respiratory distress, Papilledema, Anorexia, Cough, Pleural effusion, Thrombocytopenia |
ORPHA:509 |
Arterial Tortuosity Syndrome |
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Respiratory distress, Dyspnea, Respiratory failure, Cardiorespiratory arrest |
ORPHA:3342 |
Schinzel-Giedion Syndrome |
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Respiratory distress, Aganglionic megacolon, Failure to thrive in infancy, Recurrent pneumonia, N... |
ORPHA:798 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
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Respiratory distress |
OMIM:610536 |
Coccidioidomycosis |
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Respiratory distress, Eosinophilia, Pneumonia, Abnormality of the spleen, Hydrocephalus, Pleural ... |
ORPHA:228123 |
Cardiomyopathy, Familial Hypertrophic, 4 |
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Respiratory distress, Dyspnea |
OMIM:115197 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
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Respiratory distress, Pneumothorax |
OMIM:620306 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
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Respiratory distress, Respiratory failure requiring assisted ventilation, Chronic lung disease, P... |
ORPHA:95455 |
Multiple Endocrine Neoplasia Type 1 |
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Neoplasm of the pancreas, Hypercalcemia, Pituitary null cell adenoma, Pituitary corticotropic cel... |
ORPHA:652 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
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Respiratory distress, Death in infancy, Failure to thrive |
OMIM:617156 |
Arboleda-Tham Syndrome |
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Respiratory distress, Neonatal respiratory distress, Optic atrophy, Dysphagia, Abnormal repetitiv... |
OMIM:616268 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
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Respiratory distress |
OMIM:300968 |
Alpha-Fetoprotein Deficiency |
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Decreased circulating alpha-fetoprotein concentration |
OMIM:615969 |
Auriculocondylar Syndrome |
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Respiratory distress |
ORPHA:137888 |
Congenital Myopathy 22B, Severe Fetal |
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Respiratory distress, Pleural effusion |
OMIM:620369 |
Rodrigues Blindness |
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Nasal flaring |
OMIM:268320 |
Heterotaxy, Visceral, 1, X-Linked |
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Respiratory distress, Asplenia, Aqueductal stenosis, Hydrocephalus, Myelomeningocele, Polysplenia... |
OMIM:306955 |
Ear-Patella-Short Stature Syndrome |
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Respiratory distress, Dyspnea, Respiratory failure, Failure to thrive |
ORPHA:2554 |
8Q24.3 Microdeletion Syndrome |
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Respiratory distress, Hyperactivity, Small for gestational age, Optic nerve hypoplasia, Tics, Dys... |
ORPHA:508488 |
Stüve-Wiedemann Syndrome |
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Respiratory distress, Apnea, Impaired pain sensation, Asthma, Paresthesia, Abnormal autonomic ner... |
ORPHA:3206 |
Eisenmenger Syndrome |
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Respiratory distress, Increased pulmonary vascular resistance, Wheezing, Hypochromic microcytic a... |
ORPHA:97214 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
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Respiratory distress, Pleural effusion, Hydrocephalus, Apnea |
OMIM:261740 |
Microphthalmia With Linear Skin Defects Syndrome |
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Respiratory distress, Dyspnea, Hydrocephalus, Respiratory failure, Failure to thrive |
ORPHA:2556 |
Osteoglophonic Dysplasia |
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Respiratory distress, Failure to thrive |
OMIM:166250 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
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Respiratory distress, Failure to thrive, Severe B lymphocytopenia, B lymphocytopenia |
ORPHA:83617 |
Cleidocranial Dysplasia 1 |
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Respiratory distress, Neonatal respiratory distress, Syringomyelia |
OMIM:119600 |
Scimitar Syndrome |
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Respiratory distress, Pulmonary arterial hypertension, Pneumothorax, Cough |
ORPHA:185 |
Doors Syndrome |
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Respiratory distress, Optic atrophy, Aspiration pneumonia, Thrombocytosis, Spina bifida occulta |
ORPHA:79500 |
Congenital Tracheal Stenosis |
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Respiratory distress, Neonatal asphyxia, Wheezing, Dyspnea, Upper airway obstruction |
ORPHA:141127 |
Williams Syndrome |
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Hypoplasia of penis, Hypogonadotropic hypogonadism, Hypercalcemia, Elevated circulating creatine ... |
ORPHA:904 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
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Respiratory distress, Rhinitis |
OMIM:305100 |
Sarcoidosis |
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Hypercalcemia, Abnormal reproductive system morphology, Enlarged lacrimal glands, Enlargement of ... |
ORPHA:797 |
Plague |
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Respiratory distress, Splenomegaly, Acute infectious pneumonia, Anorexia |
ORPHA:707 |
Aortic Arch Interruption |
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Respiratory distress, Tachypnea, Exertional dyspnea |
ORPHA:2299 |
Isolated Arrhinia |
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Respiratory distress |
ORPHA:1134 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
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Respiratory distress, Failure to thrive, Small for gestational age |
ORPHA:2255 |
Osteopetrosis, Autosomal Recessive 7 |
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Hypocalcemic seizures |
OMIM:612301 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
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Respiratory distress, Splenomegaly |
OMIM:617088 |
Williams-Beuren Syndrome |
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Micropenis, Hypercalcemia |
OMIM:194050 |
Sotos Syndrome |
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Hypospadias, Hypercalcemia, Phimosis, Cryptorchidism, Hydrocele testis |
ORPHA:821 |
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
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Respiratory distress, Failure to thrive, Recurrent pneumonia, Acute myelomonocytic leukemia |
ORPHA:99646 |
Alström Syndrome |
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Respiratory distress, Optic disc pallor, Somatic sensory dysfunction, Ataxia, Splenomegaly, Chron... |
ORPHA:64 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
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Respiratory distress, Neonatal respiratory distress, Respiratory acidosis |
OMIM:614748 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
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Respiratory distress |
ORPHA:480880 |
Ulbright-Hodes Syndrome |
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Respiratory distress, Respiratory failure, Pneumothorax |
ORPHA:3404 |
Generalized Arterial Calcification Of Infancy |
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Respiratory distress, Pulmonary arterial hypertension, Failure to thrive in infancy |
ORPHA:51608 |
Congenital Total Pulmonary Venous Return Anomaly |
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Respiratory distress, Respiratory failure requiring assisted ventilation, Paroxysmal dyspnea, Apn... |
ORPHA:99125 |
Pmm2-Cdg |
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Respiratory distress, Ataxia, Aspiration pneumonia, Impaired neutrophil chemotaxis, Failure to th... |
ORPHA:79318 |