| Pseudohypoaldosteronism, Type Iib |
|
Hyperchloremia, Hyperkalemia |
OMIM:614491 |
| Pseudohypoaldosteronism, Type Iid |
|
Hyperchloremia, Hyperkalemia |
OMIM:614495 |
| Pseudohypoaldosteronism, Type Iic |
|
Hyperchloremia, Hyperkalemia |
OMIM:614492 |
| Pseudohypoaldosteronism, Type Iie |
|
Hyperchloremia, Hyperkalemia |
OMIM:614496 |
| Von Hippel-Lindau Disease |
|
Stroke, Myocarditis, Myocardial infarction, Elevated circulating catecholamine level, Adrenal phe... |
ORPHA:892 |
| Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Respiratory distress, Primary microcephaly, Agenesis of corpus callosum, Polymicrogyria |
ORPHA:171703 |
| Benign Schwannoma |
|
Abnormality of the adrenal glands, Vestibular schwannoma, Facial palsy, Abnormality of the twelft... |
ORPHA:252164 |
| Von Hippel-Lindau Syndrome |
|
Neoplasm of the pancreas, Papillary cystadenoma of the epididymis, Pheochromocytoma, Paragangliom... |
OMIM:193300 |
| Phosphoserine Aminotransferase Deficiency |
|
Apnea, Secondary microcephaly, Death in infancy, Cyanotic episode |
OMIM:610992 |
| Cholesterol Pneumonia |
|
Cyanosis, Cough, Tachypnea, Death in infancy, Pneumonia |
OMIM:215030 |
| Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Respiratory distress, Hypoplasia of the corpus callosum, Abnormal mucociliary clearance, Lissence... |
OMIM:619466 |
| Diethylstilbestrol Syndrome |
|
Hypoplasia of the uterus, Breast carcinoma, Micropenis, Hypospadias, Melanoma, Vaginal neoplasm, ... |
ORPHA:1916 |
| Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Aspiration pneumonia, Upper airway obstruction, Dyspnea, Weight loss |
ORPHA:141152 |
| Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Hydrocephalus, Abnormality of the anterior commissure, Agenesis of corpus callosum |
OMIM:617542 |
| Cyanosis And Hepatic Disease |
|
Dyspnea, Cyanosis |
OMIM:219400 |
| Muscular Hypertonia, Lethal |
|
Respiratory distress, Death in infancy, Umbilical hernia, Pneumonia |
OMIM:254120 |
| Apnea, Central Sleep |
|
Abnormal pattern of respiration, Sleep apnea, Cyanosis, Irregular respiration |
OMIM:207720 |
| Bullous Dystrophy, Hereditary Macular Type |
|
Microcephaly, Death in childhood, Acrocyanosis |
OMIM:302000 |
| Floating-Harbor Syndrome |
|
Wide mouth, Hirsutism, Cryptorchidism, Hypospadias, Short philtrum, Glandular hypospadias, Genera... |
OMIM:136140 |
| Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Failure to thrive, Cyanosis, Cough, Tachypnea, Respiratory failure |
OMIM:263000 |
| Laryngotracheal Angioma |
|
Respiratory distress, Apnea, Cyanosis, Wheezing, Cough, Intercostal retractions, Stridor |
ORPHA:137935 |
| Chronic Pneumonitis Of Infancy |
|
Respiratory distress, Failure to thrive, Cyanosis, Tachypnea, Cough, Intercostal retractions, Red... |
ORPHA:91359 |
| Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Nonproductive cough, Cyanosis, Crackles, Wheezing, Pneumothorax, Cough, Res... |
ORPHA:1302 |
| Bronchopulmonary Dysplasia |
|
Respiratory distress, Hyperoxemia, Small for gestational age, Abnormal respiratory system physiol... |
ORPHA:70589 |
| Seizures, Benign Familial Infantile, 3 |
|
Apnea, Cyanosis |
OMIM:607745 |
| Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Respiratory distress, Failure to thrive, Cyanosis |
ORPHA:91130 |
| Arnold-Chiari Malformation Type I |
|
Cranial nerve compression, Abnormality of the eleventh cranial nerve, Myelopathy, Abnormality of ... |
ORPHA:268882 |
| Seizures, Benign Familial Infantile, 1 |
|
Apnea, Cyanosis |
OMIM:601764 |
| Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hyponatremia, Hypokalemia, Hypochloremia, Increased circulating renin level |
OMIM:300971 |
| Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome |
|
Acrocyanosis |
ORPHA:86918 |
| Hereditary Methemoglobinemia |
|
Temporal cortical atrophy, Small basal ganglia, Frontal cortical atrophy, Small for gestational a... |
ORPHA:621 |
| Chiari Malformation Type Ii |
|
Myelomeningocele, Hydrocephalus, Cyanosis, Inspiratory stridor, Spina bifida, Agenesis of corpus ... |
OMIM:207950 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Respiratory distress, Basal ganglia gliosis, Death in infancy, Neuronal loss in basal ganglia |
OMIM:604377 |
| Floating-Harbor Syndrome |
|
Wide mouth, Precocious puberty, Persistence of primary teeth, Cryptorchidism, Hypospadias, Short ... |
ORPHA:2044 |
| Hypomyelination Neuropathy-Arthrogryposis Syndrome |
|
Respiratory distress |
ORPHA:2680 |
| Emphysema, Congenital Lobar |
|
Respiratory distress |
OMIM:130710 |
| Venular Insufficiency, Systemic |
|
Cyanosis |
OMIM:192700 |
| Sulfhemoglobinemia, Congenital |
|
Cyanosis |
OMIM:185460 |
| Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Failure to thrive, Apnea, Cyanosis, Neonatal death, Tachypnea, Death in infancy, Neonatal respira... |
OMIM:265120 |
| Methemoglobinemia, Beta Type |
|
Cyanosis |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Cyanosis |
OMIM:617973 |
| Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Failure to thrive, Apnea, Nonspecific interstitial pneumonia, Cyanosis, Neo... |
OMIM:610921 |
| Combined Oxidative Phosphorylation Deficiency 19 |
|
Respiratory distress, Failure to thrive |
OMIM:615595 |
| Renal Cysts And Diabetes Syndrome |
|
Exocrine pancreatic insufficiency, Hypoplasia of the uterus, Atretic vas deferens, Bicornuate ute... |
OMIM:137920 |
| Hereditary Pulmonary Alveolar Proteinosis |
|
Respiratory distress, Crackles, Acute infectious pneumonia, Tachypnea, Respiratory failure requir... |
ORPHA:264675 |
| Developmental And Epileptic Encephalopathy 30 |
|
Respiratory distress, Death in infancy |
OMIM:616341 |
| Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Abnormal basal ganglia morphology, Small basal ganglia, Normal pressure hydrocephalus, Large basa... |
ORPHA:300570 |
| Isolated Splenogonadal Fusion |
|
Hydrocele testis, Abnormal epididymis morphology, Abnormal penis morphology, Abnormality of the s... |
ORPHA:457083 |
| Severe X-Linked Mitochondrial Encephalomyopathy |
|
Respiratory distress, Respiratory insufficiency, Abnormal corpus striatum morphology |
ORPHA:238329 |
| Congenital Disorder Of Glycosylation, Type Iy |
|
Respiratory distress, Failure to thrive, Microcephaly, Hypoplasia of the corpus callosum |
OMIM:300934 |
| Stuve-Wiedemann Syndrome 2 |
|
Respiratory distress, Death in adolescence, Neonatal death, Pulmonary arterial hypertension, Stil... |
OMIM:619751 |
| Venous Malformations, Multiple Cutaneous And Mucosal |
|
Intestinal bleeding, Venous malformation |
OMIM:600195 |
| Pleural Mesothelioma |
|
Respiratory distress, Cough, Pleural effusion, Dyspnea, Abnormal respiratory system physiology, W... |
ORPHA:50251 |
| Obesity-Hypoventilation Syndrome |
|
Obesity, Cyanosis, Hypoventilation |
OMIM:257500 |
| Asbestos Intoxication |
|
Oxygen desaturation on exertion, Reduced vital capacity, Nonproductive cough, Cyanosis, Reduced f... |
ORPHA:2302 |
| Recurrent Respiratory Papillomatosis |
|
Respiratory distress, Failure to thrive, Tracheomalacia, Nonproductive cough, Respiratory insuffi... |
ORPHA:60032 |
| Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Failure to thrive, Nonspecific interstitial pneumonia, Cyanosis, Respirator... |
OMIM:610913 |
| Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Dyspnea, Microcephaly, Respiratory failure |
ORPHA:1832 |
| Severe Acute Respiratory Syndrome |
|
Respiratory distress, Chronic lung disease, Acute infectious pneumonia, Respiratory failure requi... |
ORPHA:140896 |
| Neuralgic Amyotrophy |
|
Respiratory insufficiency, Acrocyanosis |
ORPHA:2901 |
| Primary Pulmonary Hypoplasia |
|
Failure to thrive, Apnea, Asthma, Microcephaly, Cyanosis, Tachypnea, Pneumothorax, Abnormal breat... |
ORPHA:2257 |
| Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Progressive microcephaly, Cyanosis, Central apnea |
ORPHA:71277 |
| Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Respiratory distress, Decreased body weight, Respiratory insufficiency due to muscle weakness |
OMIM:300580 |
| Immunodeficiency 95 |
|
Respiratory distress, Recurrent viral pneumonia, Respiratory failure |
OMIM:619773 |
| Perching Syndrome |
|
Respiratory distress |
OMIM:617055 |
| Bardet-Biedl Syndrome 16 |
|
Respiratory distress, Obesity |
OMIM:615993 |
| Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset |
|
Respiratory distress, Failure to thrive, Respiratory insufficiency, Restrictive ventilatory defec... |
OMIM:614399 |
| Diarrhea 1, Secretory Chloride, Congenital |
|
Hypokalemia, Hypochloremia, Hyponatremia |
OMIM:214700 |
| Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... |
OMIM:254210 |
| Arnold-Chiari Malformation Type Ii |
|
Myelomeningocele, Apnea, Hydrocephalus, Aqueductal stenosis, Cyanosis, Cortical dysplasia, Polymi... |
ORPHA:1136 |
| Congenital Pulmonary Lymphangiectasia |
|
Respiratory distress, Chronic pulmonary obstruction, Cyanosis, Cough, Pleural effusion, Pulmonary... |
ORPHA:2414 |
| Familial Multiple Nevi Flammei |
|
Arteriovenous malformation, Intracranial hemorrhage, Pulmonary embolism, Arrhythmia, Abnormal cra... |
ORPHA:624 |
| Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Failure to thrive, Microcephaly |
ORPHA:26792 |
| Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Multifocal cerebral white matter abnormalities, Cerebral cortical atrophy, Dysplastic corpus call... |
ORPHA:488627 |
| Laryngotracheoesophageal Cleft |
|
Cyanosis, Cough, Aspiration, Neonatal respiratory distress, Dyspnea, Stridor |
ORPHA:2004 |
| Lissencephaly Syndrome, Norman-Roberts Type |
|
Respiratory distress, Cerebral calcification, 4-layered lissencephaly, Hypoplasia of the corpus c... |
ORPHA:89844 |
| Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Hypoplasia of the corpus callosum, Cyanotic episode, Lateral ventricle dilatation, Lissencephaly,... |
ORPHA:284417 |
| Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... |
OMIM:605809 |
| Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Respiratory distress, Chronic pulmonary obstruction, Crackles, Cough, Pneumothorax, Pleural effus... |
ORPHA:411703 |
| Klippel-Trénaunay Syndrome |
|
Hepatomegaly, Peripheral arteriovenous fistula, Hemangioma, Hydrops fetalis, Pulmonary embolism, ... |
ORPHA:90308 |
| Combined Oxidative Phosphorylation Defect Type 23 |
|
Failure to thrive, Abnormal basal ganglia MRI signal intensity, Cyanosis, Stridor, Paroxysmal dys... |
ORPHA:444013 |
| Congenital Disorder Of Glycosylation, Type Iu |
|
Respiratory distress, Cerebral white matter atrophy, Death in infancy, Neonatal respiratory distr... |
OMIM:615042 |
| Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory distress, Respiratory insufficiency, Recurrent pneumonia, Ventilator dependence with ... |
ORPHA:254875 |
| Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive |
|
Respiratory distress, Failure to thrive, Lymphocytic interstitial pneumonia |
OMIM:245590 |
| Azoospermia, Obstructive, With Nephrolithiasis |
|
Spermatocele, Obstructive azoospermia |
OMIM:301060 |
| Pulmonary Alveolar Proteinosis, Acquired |
|
Cyanosis, Decreased DLCO, Cough, Restrictive ventilatory defect, Pneumonia, Hypoxemia, Dyspnea |
OMIM:610910 |
| Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Respiratory distress, Failure to thrive, Weight loss, Cachexia |
OMIM:612075 |
| Infant Acute Respiratory Distress Syndrome |
|
Cyanosis, Tachypnea, Pneumonia, Hypoxemia, Respiratory failure, Nasal flaring |
ORPHA:70587 |
| Laryngeal Abductor Paralysis |
|
Microcephaly, Stridor, Cyanosis |
OMIM:150260 |
| Congenital Disorder Of Glycosylation, Type Ix |
|
Respiratory distress, Microcephaly, Death in childhood, Failure to thrive |
OMIM:615597 |
| Autoimmune Pulmonary Alveolar Proteinosis |
|
Cyanosis, Crackles, Cough, Decreased DLCO, Restrictive ventilatory defect, Hypoxemia, Dyspnea, We... |
ORPHA:747 |
| Proteus Syndrome |
|
Lymphangioma, Lipoma, Splenomegaly, Hemangioma, Multiple lipomas, Venous malformation, Open mouth |
OMIM:176920 |
| Benign Familial Infantile Epilepsy |
|
Apnea, Cyanosis |
ORPHA:306 |
| Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Reduced forced expiratory volume in one second, Reduced FEV1/FVC ratio, Airway obstruction, Nonpr... |
ORPHA:1303 |
| Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Respiratory distress |
OMIM:619099 |
| Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyperchloriduria, Hypokalemia, Hypochloremia, Hyponatremia |
OMIM:613090 |
| Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Ectopic anterior pituitary gland, Abnormal prolactin level, Decreased response to growth hormone ... |
ORPHA:95494 |
| Postsynaptic Congenital Myasthenic Syndromes |
|
Reduced vital capacity, Cyanosis, Orthopnea, Restrictive ventilatory defect, Exertional dyspnea, ... |
ORPHA:98913 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Respiratory distress, Failure to thrive, Microcephaly, Cerebral atrophy |
OMIM:618426 |
| Cyanosis, Transient Neonatal |
|
Cyanosis, Jaundice |
OMIM:613977 |
| Burning Mouth Syndrome |
|
Parageusia, Xerostomia, Smooth tongue, Abnormal fifth cranial nerve morphology, Abnormality of ta... |
ORPHA:353253 |
| Gaucher Disease Type 2 |
|
Respiratory distress, Abnormal pattern of respiration, Cough |
ORPHA:77260 |
| Encephalopathy, Ethylmalonic |
|
Failure to thrive, Petechiae, Focal T2 hyperintense basal ganglia lesion, Death in infancy, Acroc... |
OMIM:602473 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Exertional dyspnea, Microcephaly, Cyanosis |
OMIM:250800 |
| Succinic Acidemia |
|
Respiratory distress |
OMIM:600335 |
| Cardiomyopathy, Dilated, 1Gg |
|
Respiratory distress |
OMIM:613642 |
| Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea |
OMIM:267450 |
| Milroy Disease |
|
Hydrocele testis, Predominantly lower limb lymphedema, Varicose veins, Abnormal venous morphology... |
ORPHA:79452 |
| Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Muscle fiber atrophy, High, narrow palate, EMG: myopathic abnormalities, Arterial dissection, Per... |
ORPHA:1900 |
| Breath-Holding Spells |
|
Cyanosis |
OMIM:607578 |
| Acute Interstitial Pneumonia |
|
Nonproductive cough, Cyanosis, Crackles, Tachypnea, Decreased DLCO, Pleural effusion, Bronchiecta... |
ORPHA:79126 |
| Enlarged Parietal Foramina |
|
Myelomeningocele, Cleft palate, Abnormal cerebral vein morphology, Multiple exostoses, Cleft lip,... |
ORPHA:60015 |
| Laryngomalacia |
|
Respiratory distress, Congenital laryngeal stridor |
OMIM:150280 |
| Acquired Methemoglobinemia |
|
Hypoxemia, Dyspnea, Cyanosis, Respiratory distress |
ORPHA:464453 |
| Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Failure to thrive, Microcephaly, Hypoplasia of the corpus callosum, Abnormal cerebral white matte... |
OMIM:614407 |
| Thymic Neuroendocrine Tumor |
|
Prominent veins on trunk, Pituitary null cell adenoma, Pituitary adenoma, Increased circulating c... |
ORPHA:97289 |
| Giant Axonal Neuropathy |
|
Abnormality of the pituitary gland, Woolly hair, Limb muscle weakness, Pili canaliculi, Diffuse a... |
ORPHA:643 |
| Parkes Weber Syndrome |
|
Arteriovenous malformation, High-output congestive heart failure, Peripheral arteriovenous fistul... |
ORPHA:90307 |
| Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Nonproductive cough, Pleural empyema, Acute infectious pneumonia, Tachypnea... |
ORPHA:36238 |
| Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema |
|
Respiratory distress, Angioedema, Erythema, Upper airway obstruction |
ORPHA:100057 |
| Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Bronchiectasis, Reduced FEV1/FVC ratio, Chronic pulmonary obstruction, Nonproductive cough, Decre... |
ORPHA:79127 |
| Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome |
|
Arteriovenous malformation, Lymphangioma, Ovarian neoplasm, Neoplasm of the breast, Hamartoma, Ne... |
ORPHA:137608 |
| Capillary Malformation-Arteriovenous Malformation |
|
Arteriovenous malformation, High-output congestive heart failure, Peripheral arteriovenous fistul... |
ORPHA:137667 |
| N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress, Failure to thrive |
OMIM:237310 |
| Congenital Tracheomalacia |
|
Failure to thrive, Apnea, Tracheomalacia, Decreased peak expiratory flow, Cyanosis, Respiratory i... |
ORPHA:95430 |
| Cryofibrinogenemia, Familial Primary |
|
Acrocyanosis |
OMIM:123540 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyperchloriduria, Hypokalemia, Hypochloremia, Hyponatremia |
OMIM:602522 |
| Mitochondrial Pyruvate Carrier Deficiency |
|
Progressive microcephaly, Respiratory distress |
OMIM:614741 |
| Pituicytoma |
|
Abnormality of the pituitary gland, Decreased serum testosterone concentration, Decreased respons... |
ORPHA:251623 |
| Anaplastic Thyroid Carcinoma |
|
Respiratory distress, Cough, Upper airway obstruction, Dyspnea, Weight loss, Stridor |
ORPHA:142 |
| Choanal Atresia |
|
Respiratory distress, Tracheomalacia, Cyanosis, Abnormal nasal mucus secretion, Chronic sinusitis... |
ORPHA:137914 |
| Glossopharyngeal Neuralgia |
|
Neoplasm, Cranial nerve compression, Jaw claudication, Syncope, Vascular dilatation, Bradycardia,... |
ORPHA:221098 |
| Stt3B-Cdg |
|
Respiratory distress, Failure to thrive, Microcephaly |
ORPHA:370924 |
| Developmental And Epileptic Encephalopathy 68 |
|
Respiratory distress, Failure to thrive, Microcephaly, Cerebral cortical atrophy |
OMIM:618201 |
| Avian Influenza |
|
Respiratory distress, Miscarriage, Nonproductive cough, Tachypnea, Cough, Pneumothorax, Productiv... |
ORPHA:454836 |
| Kaposi Sarcoma |
|
Abnormality of the liver, Hemangioma, Lymphoproliferative disorder, Abnormality of the spleen, Ne... |
ORPHA:33276 |
| Juvenile Polyposis Syndrome |
|
Small intestinal polyposis, Arteriovenous malformation, Stomach cancer, Neoplasm of the small int... |
ORPHA:2929 |
| Ethylmalonic Encephalopathy |
|
Abnormal basal ganglia MRI signal intensity, Failure to thrive, Petechiae, Acrocyanosis |
ORPHA:51188 |
| Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Respiratory distress, Failure to thrive, Microcephaly |
ORPHA:261304 |
| Idiopathic Neonatal Atrial Flutter |
|
Large for gestational age, Respiratory distress, Tachypnea |
ORPHA:45452 |
| Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Respiratory distress, Ventilator dependence with inability to wean, Respiratory failure requiring... |
ORPHA:254864 |
| Acute Lung Injury |
|
Respiratory distress, Tachypnea, Pneumonia, Hypoxemia, Dyspnea, Respiratory failure |
ORPHA:178320 |
| Congenital Lobar Emphysema |
|
Respiratory distress, Emphysema |
ORPHA:1928 |
| Diaphanospondylodysostosis |
|
Myelomeningocele, Respiratory distress |
ORPHA:66637 |
| Agnathia-Otocephaly Complex |
|
Respiratory distress, Tracheomalacia, Agenesis of corpus callosum, Holoprosencephaly |
OMIM:202650 |
| Cleft Larynx, Posterior |
|
Cyanosis, Aspiration |
OMIM:215800 |
| Meconium Aspiration Syndrome |
|
Respiratory distress, Aspiration pneumonia, Wheezing, Pneumothorax, Hypoxemia, Neonatal asphyxia,... |
ORPHA:70588 |
| Tetrasomy 5P |
|
Respiratory distress, Failure to thrive, Hydrocephalus, Cyanosis, Pulmonary arterial hypertension... |
ORPHA:3309 |
| Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Respiratory distress, Failure to thrive, Cerebral cortical atrophy, Cerebral atrophy, Microcephal... |
OMIM:619272 |
| Harrod Syndrome |
|
High palate, Dental malocclusion, Narrow mouth, External genital hypoplasia, High, narrow palate,... |
OMIM:601095 |
| Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Respiratory distress, Agenesis of corpus callosum, Holoprosencephaly |
ORPHA:990 |
| Benign Familial Neonatal Epilepsy |
|
Apnea, Circumoral cyanosis |
ORPHA:1949 |
| Malaria |
|
Respiratory distress |
ORPHA:673 |
| Familial Nasal Acilia |
|
Respiratory distress, Chronic rhinitis, Chronic sinusitis, Bronchiectasis, Dyspnea |
ORPHA:922 |
| Gjc2-Related Late-Onset Primary Lymphedema |
|
Predominantly lower limb lymphedema, Facial edema, Genital edema, Abnormal lymphatic vessel morph... |
ORPHA:568051 |
| Coenzyme Q10 Deficiency, Primary, 8 |
|
Respiratory distress, Small for gestational age |
OMIM:616733 |
| Triosephosphate Isomerase Deficiency |
|
Respiratory distress, Failure to thrive, Cerebral atrophy, Respiratory insufficiency, Death in ad... |
OMIM:615512 |
| Congenital Disorder Of Glycosylation, Type Ie |
|
Respiratory distress, Failure to thrive, Telangiectasia, Secondary microcephaly |
OMIM:608799 |
| Hypoadrenocorticism, Familial |
|
Apnea, Cyanosis |
OMIM:240200 |
| Restrictive Dermopathy 2 |
|
Respiratory distress, Cyanosis |
OMIM:619793 |
| Folinic Acid-Responsive Seizures |
|
Respiratory distress, Apnea, Frontotemporal cerebral atrophy |
ORPHA:79097 |
| Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Oxygen desaturation on exertion, Respiratory distress, Asthma, Crackles, Tachypnea, Wheezing, Cou... |
OMIM:610978 |
| Sepsis In Premature Infants |
|
Decreased body weight, Petechiae, Small for gestational age, Cyanosis, Abnormal respiratory syste... |
ORPHA:90051 |
| Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Respiratory distress, Dyspnea, Microcephaly, Cough |
ORPHA:86812 |
| Hsd10 Disease, Infantile Type |
|
Abnormal basal ganglia morphology, Cerebral atrophy, Microcephaly, Cyanosis, Diffuse cerebral atr... |
ORPHA:391428 |
| Pulmonary Arteriovenous Malformation |
|
Hemothorax, Pleural empyema, Cyanosis, Cough, Pulmonary arterial hypertension, Hypoxemia, Dyspnea... |
ORPHA:2038 |
| Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Large for gestational age, Respiratory distress, Umbilical hernia, Prolonged neonatal jaundice |
ORPHA:226313 |
| Idiopathic Congenital Hypothyroidism |
|
Decreased circulating T4 concentration, Facial edema, Macroglossia, Elevated circulating thyroid-... |
ORPHA:95717 |
| Slc35A1-Cdg |
|
Hypoxemia, Respiratory distress, Subcutaneous hemorrhage, Pneumonia |
ORPHA:238459 |
| Pulmonary Capillary Hemangiomatosis |
|
Hemothorax, Cyanosis, Elevated pulmonary artery pressure, Decreased DLCO, Pleural effusion, Hypox... |
ORPHA:199241 |
| Myopathy And Diabetes Mellitus |
|
Respiratory distress |
ORPHA:2596 |
| Non-Acquired Panhypopituitarism |
|
Ectopic anterior pituitary gland, Abnormal prolactin level, Decreased response to growth hormone ... |
ORPHA:90695 |
| Congenital Myasthenic Syndrome |
|
Episodic respiratory distress, Respiratory arrest, Central sleep apnea, Cyanosis, Intermittent ep... |
ORPHA:590 |
| Presynaptic Congenital Myasthenic Syndromes |
|
Episodic respiratory distress, Respiratory arrest, Central sleep apnea, Cyanosis, Intermittent ep... |
ORPHA:98914 |
| Leigh Syndrome With Cardiomyopathy |
|
Respiratory distress, Failure to thrive, Apnea, Central hypoventilation, Basal ganglia gliosis, A... |
ORPHA:70474 |
| Laryngeal Web, Familial |
|
Respiratory distress, Stridor |
OMIM:150360 |
| Pulmonary Alveolar Microlithiasis |
|
Oxygen desaturation on exertion, Nonproductive cough, Cyanosis, Respiratory insufficiency, Tachyp... |
ORPHA:60025 |
| Fg Syndrome Type 1 |
|
High palate, Wide mouth, Malrotation of colon, Anal atresia, Dental crowding, Small pituitary gla... |
ORPHA:93932 |
| Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Respiratory distress |
ORPHA:240085 |
| Tricuspid Atresia |
|
Cyanosis |
ORPHA:1209 |
| Congenital Diaphragmatic Hernia |
|
Hypoxemia, Respiratory distress |
ORPHA:2140 |
| Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Melena, Telangiectasia of the skin, Spinal arteriovenous malformation, Hemothorax, Pulmonary hemo... |
OMIM:187300 |
| Complete Atrioventricular Septal Defect |
|
Failure to thrive, Pulmonary venous hypertension, Cyanosis, Crackles, Elevated pulmonary artery p... |
ORPHA:1329 |
| Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Respiratory distress, Failure to thrive, Microcephaly, Hypoplasia of the corpus callosum |
ORPHA:544503 |
| Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Respiratory distress, Respiratory insufficiency, Abnormal periventricular white matter morphology |
ORPHA:1145 |
| Congenital Laryngeal Web |
|
Respiratory distress, Stridor |
ORPHA:2374 |
| Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Hepatic arteriovenous malformation, Stroke, Mitral regurgitation, Juvenile gastrointestinal polyp... |
OMIM:175050 |
| Non-Functioning Pituitary Adenoma |
|
Central adrenal insufficiency, Hypogonadism, Central diabetes insipidus, Abnormality of the pitui... |
ORPHA:91349 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Failure to thrive, Small for gestational age, Cyanosis, Tachypnea, Hypoxemia |
ORPHA:860 |
| Lethal Recessive Chondrodysplasia |
|
Respiratory distress |
ORPHA:1423 |
| Aicardi-Goutieres Syndrome 1 |
|
Leukoencephalopathy, Acrocyanosis, Petechiae, Cerebral atrophy, Basal ganglia calcification, Micr... |
OMIM:225750 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Apnea, Cyanosis, Cerebral atrophy |
OMIM:261680 |
| Clapo Syndrome |
|
Lymphangioma, Capillary malformation of the lip, Lymphedema, Venous malformation, Ganglioneuroma,... |
ORPHA:168984 |
| X-Linked Centronuclear Myopathy |
|
Respiratory distress, Pneumonia, Respiratory failure requiring assisted ventilation |
ORPHA:596 |
| Familial Thyroid Dyshormonogenesis |
|
Thyroid defect in oxidation and organification of iodide, Decreased circulating T4 concentration,... |
ORPHA:95716 |
| Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Respiratory distress, Failure to thrive, Cerebral white matter atrophy, Abnormal periventricular ... |
ORPHA:329178 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Respiratory distress, Leukoencephalopathy, Failure to thrive, Death in childhood, Exertional dysp... |
OMIM:220110 |
| Marcus-Gunn Syndrome |
|
Cleft lip, Abnormal fifth cranial nerve morphology, Cleft palate |
ORPHA:91412 |
| Thyroid Lymphoma |
|
Respiratory distress, Dyspnea, Stridor, Upper airway obstruction |
ORPHA:97285 |
| Bartter Syndrome, Type 1, Antenatal |
|
Hypomagnesemia, Hypokalemia, Increased circulating renin level, Hypercalcemia, Increased serum pr... |
OMIM:601678 |
| Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
High-output congestive heart failure, Cerebral hemorrhage, Spinal arteriovenous malformation, Dil... |
OMIM:610655 |
| Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6 |
|
Respiratory distress, Paradoxical respiration |
OMIM:620011 |
| Congenital Tricuspid Valve Dysplasia |
|
Small for gestational age, Cyanosis, Respiratory failure requiring assisted ventilation, Tachypne... |
ORPHA:555874 |
| Neurogenic Arthrogryposis Multiplex Congenita |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness |
ORPHA:1143 |
| Mitochondrial Phosphate Carrier Deficiency |
|
Respiratory insufficiency, Cyanosis |
OMIM:610773 |
| Chromosome 6Q24-Q25 Deletion Syndrome |
|
Respiratory distress, Hydrocephalus, Probst bundles, Agenesis of corpus callosum |
OMIM:612863 |
| Buerger Disease |
|
Acrocyanosis |
ORPHA:36258 |
| Nipah Virus Disease |
|
Respiratory distress, Cough |
ORPHA:99825 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Respiratory distress |
ORPHA:240103 |
| Igg4-Related Ophthalmic Disease |
|
Sialadenitis, Orchitis, Abnormality of the extraocular muscles, Pancreatitis, Prostatitis, Palpeb... |
ORPHA:449563 |
| Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Sleep apnea, Microcephaly, Hypoplasia of the corpus callosum, Hypoplastic anterior commissure |
OMIM:616975 |
| Brain-Lung-Thyroid Syndrome |
|
Respiratory distress, Failure to thrive, Asthma, Cavum septum pellucidum, Microcephaly, Recurrent... |
ORPHA:209905 |
| Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress, Failure to thrive, Microcephaly |
ORPHA:927 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Respiratory distress, Failure to thrive |
ORPHA:79312 |
| Motor Neuropathy, Peripheral, With Dysautonomia |
|
Cyanosis |
OMIM:252320 |
| Holocarboxylase Synthetase Deficiency |
|
Respiratory distress, Weight loss, Tachypnea |
ORPHA:79242 |
| Phace Syndrome |
|
Abnormal carotid artery morphology, Optic nerve hypoplasia, Ectopic thyroid, Tetralogy of Fallot,... |
ORPHA:42775 |
| Ciliary Dyskinesia, Primary, 2 |
|
Respiratory distress, Sinusitis, Ciliary dyskinesia, Bronchiectasis, Immotile cilia |
OMIM:606763 |
| Angioosteohypotrophic Syndrome |
|
Telangiectasia of the skin, Prominent superficial veins, Venous malformation, Edema |
ORPHA:75508 |
| Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Respiratory distress, Hypoplasia of the corpus callosum |
OMIM:617102 |
| Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Microcephaly, Severe failure to thrive, Cyanosis |
ORPHA:3304 |
| Rubinstein-Taybi Syndrome 1 |
|
High palate, Cleft palate, Premature thelarche, Facial hypertrichosis, Long eyelashes, Shawl scro... |
OMIM:180849 |
| Bartter Syndrome Type 4 |
|
Hypomagnesemia, Hypokalemia, Increased circulating renin level, Hyponatremia, Hypochloremia |
ORPHA:89938 |
| Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Melena, Spinal arteriovenous malformation, Subarachnoid hemorrhage, Hematochezia, Lip telangiecta... |
OMIM:600376 |
| Oculocerebrofacial Syndrome, Kaufman Type |
|
Respiratory distress, Failure to thrive, Microcephaly, Dyspnea, Respiratory failure |
ORPHA:2707 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Partial agenesis of the corpus callosum, Microcephaly, Death in infancy, Cyanosis |
OMIM:617478 |
| Panhypophysitis |
|
Adrenocorticotropic hormone deficiency, Decreased serum testosterone concentration, Reduced circu... |
ORPHA:95513 |
| Odontochondrodysplasia |
|
Respiratory distress, Death in infancy |
ORPHA:166272 |
| Peripheral Motor Neuropathy-Dysautonomia Syndrome |
|
Acrocyanosis |
ORPHA:2400 |
| Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:2759 |
| Mercury Poisoning |
|
Respiratory distress, Interstitial pneumonitis, Abnormal cerebral white matter morphology, Dyspne... |
ORPHA:330021 |
| Atrial Septal Defect, Ostium Primum Type |
|
Failure to thrive, Airway obstruction, Cyanosis, Abnormal respiratory system physiology, Tachypne... |
ORPHA:99106 |
| Gardner Syndrome |
|
Hepatoblastoma, Adrenocortical adenoma, Abnormality of the dentition, Odontoma, Small intestine c... |
ORPHA:79665 |
| Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Leukoencephalopathy, Failure to thrive, Apnea, Focal T2 hypointense basal ganglia lesion, Microce... |
OMIM:252010 |
| Meige Disease |
|
Predominantly lower limb lymphedema, Facial edema, Edema of the dorsum of hands, Laryngeal edema,... |
ORPHA:90186 |
| Myotubular Myopathy With Abnormal Genital Development |
|
Respiratory distress, Neonatal death, Death in infancy |
OMIM:300219 |
| Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Thin corpus callosum, Apnea, Microcephaly, Cyanosis |
OMIM:619580 |
| Gaucher Disease, Perinatal Lethal |
|
Respiratory distress, Apnea, Decreased body weight, Petechiae, Microcephaly, Neonatal death, Purpura |
OMIM:608013 |
| Lymphedema-Distichiasis Syndrome |
|
Cleft upper lip, Predominantly lower limb lymphedema, Yellow nails, Cleft palate, Arrhythmia, Tet... |
OMIM:153400 |
| Livedoid Vasculopathy |
|
Telangiectasia of the skin, Graves disease, Abnormal capillary morphology, Abnormality of the per... |
ORPHA:542643 |
| Brown-Vialetto-Van Laere Syndrome 1 |
|
Respiratory distress, Respiratory insufficiency, Nocturnal hypoventilation, Dyspnea, Stridor |
OMIM:211530 |
| Infantile Krabbe Disease |
|
Respiratory distress, Failure to thrive, Cachexia, Diffuse cerebral atrophy, Abnormal periventric... |
ORPHA:206436 |
| Histiocytoid Cardiomyopathy |
|
Failure to thrive, Hydrocephalus, Cyanosis, Tachypnea, Cough, Agenesis of corpus callosum |
ORPHA:137675 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Episodic tachypnea, Jaundice, Small for gestational age, Tachypnea, Pneumon... |
ORPHA:26793 |
| Pituitary Carcinoma |
|
Pituitary growth hormone cell adenoma, Enlarged pituitary gland, Elevated circulating growth horm... |
ORPHA:300385 |
| Beare-Stevenson Cutis Gyrata Syndrome |
|
Respiratory distress, Palmoplantar cutis laxa, Hydrocephalus, Agenesis of corpus callosum |
OMIM:123790 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Respiratory distress, Abnormal globus pallidus morphology, Failure to thrive |
OMIM:251000 |
| Craniofaciofrontodigital Syndrome |
|
Respiratory distress, Palmoplantar cutis laxa, Large for gestational age, Prominent superficial v... |
ORPHA:363705 |
| Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Decreased thyroid-stimulating hormone level, Facial edema, Thyroid hypoplasia, Umbilical hernia, ... |
ORPHA:226307 |
| Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Panhypopituitarism, Intracranial hemorrh... |
ORPHA:91350 |
| Hepatocellular Carcinoma |
|
Neoplasm, Type II diabetes mellitus, Hepatomegaly, Abnormality of the hepatic vasculature, Hemobi... |
ORPHA:88673 |
| Multiple Carboxylase Deficiency |
|
Respiratory distress, Tachypnea |
ORPHA:148 |
| Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Respiratory distress, Failure to thrive, Respiratory insufficiency, Generalized abnormality of skin |
ORPHA:367 |
| Microlissencephaly-Micromelia Syndrome |
|
Respiratory distress, Failure to thrive, Secondary microcephaly, Lissencephaly |
ORPHA:50810 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Respiratory insufficiency, Microcephaly, Sudden episodic apnea, Cyanosis |
ORPHA:159 |
| Tularemia |
|
Respiratory distress, Pleural effusion, Pneumonia, Cough |
ORPHA:3392 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Pachygyria, Jaundice, Neonatal death |
OMIM:231680 |
| Lymphedema-Distichiasis Syndrome |
|
Cleft upper lip, Predominantly lower limb lymphedema, Fibrosarcoma, Cleft palate, Arrhythmia, Dis... |
ORPHA:33001 |
| Bartter Syndrome, Type 2, Antenatal |
|
Hypomagnesemia, Hypokalemia, Increased circulating renin level, Increased serum prostaglandin E2,... |
OMIM:241200 |
| Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Brittle hair, Everted lower lip vermilion, Alopecia, Coarse hair, Long philtrum, Posterior pituit... |
ORPHA:75389 |
| Gangliocytoma |
|
Abnormality of the pituitary gland, Pituitary null cell adenoma, Elevated circulating growth horm... |
ORPHA:251937 |
| Renal Nutcracker Syndrome |
|
Abnormal autonomic nervous system physiology, Vulval varicose vein, Orthostatic hypotension, Tach... |
ORPHA:71273 |
| Duplication Of The Pituitary Gland |
|
Abnormality of the pituitary gland, Wide mouth, Abnormality of the tongue, Supernumerary tooth, A... |
ORPHA:314621 |
| Double Outlet Right Ventricle |
|
Failure to thrive, Cyanosis, Tachypnea |
ORPHA:3426 |
| Menkes Disease |
|
Malabsorption, Woolly hair, Sparse hair, Exostoses, Abnormal carotid artery morphology, Intracran... |
ORPHA:565 |
| Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency |
|
Pulmonary embolism, Venous insufficiency, Abnormal cerebral vascular morphology |
ORPHA:745 |
| Crimean-Congo Hemorrhagic Fever |
|
Melena, Hepatomegaly, Subdural hemorrhage, Hemoperitoneum, Hepatic failure, Hemothorax, Myocardit... |
ORPHA:99827 |
| Adenohypophysitis |
|
Adrenocorticotropic hormone deficiency, Decreased serum testosterone concentration, Reduced circu... |
ORPHA:95512 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Abnormality of the hepatic vasculature, Hepatomegaly, Complete heart block with narrow QRS comple... |
ORPHA:1677 |
| Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Respiratory distress, Tracheomalacia, Microcephaly, Neonatal respiratory distress, Agenesis of co... |
OMIM:217980 |
| Immunodeficiency With Hyper-Igm, Type 5 |
|
Epididymitis |
OMIM:608106 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory distress, Failure to thrive, Respiratory insufficiency, Respiratory failure requiring... |
ORPHA:308552 |
| Eosinophilic Fasciitis |
|
Weight loss, Acrocyanosis |
ORPHA:3165 |
| X-Linked Acrogigantism |
|
Increased circulating insulin-like growth factor 1 concentration, Decreased thyroid-stimulating h... |
ORPHA:300373 |
| Lymphatic Malformation 6 |
|
Hydrocele testis, Facial edema, Chylothorax, Genital edema, Splenomegaly, Nonimmune hydrops fetal... |
OMIM:616843 |
| Autosomal Dominant Spastic Paraplegia Type 10 |
|
Dupuytren contracture, Peripheral axonal neuropathy, Lower limb muscle weakness, Leg muscle stiff... |
ORPHA:100991 |
| Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Peripheral arterial stenosis, Distichiasis, Patent ductus arteriosus, Pedal edema, Sinus bradycar... |
OMIM:126320 |
| Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Cleft palate, Small pituitary gland, Micropenis, Decreased testicular size, Cryptorchidism |
OMIM:614880 |
| Isolated Right Ventricular Hypoplasia |
|
Hypoxemia, Dyspnea, Cyanosis |
ORPHA:439 |
| Hypoglossia With Situs Inversus |
|
Respiratory distress, Upper airway obstruction |
OMIM:612776 |
| Meningioma |
|
Decreased circulating cortisol level, Neoplasm of the posterior pituitary, Abnormal hypothalamus ... |
ORPHA:2495 |
| Proteus-Like Syndrome |
|
Exostoses, Splenomegaly, Open bite, Hemangioma, Abnormality of the parathyroid gland, Thymus hype... |
ORPHA:2969 |
| Waardenburg Syndrome Type 3 |
|
Microcephaly, Acrocyanosis, Tracheomalacia |
ORPHA:896 |
| Myotonic Dystrophy 1 |
|
Respiratory distress, Cerebral atrophy |
OMIM:160900 |
| Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency |
|
Pulmonary embolism, Venous insufficiency, Abnormal cerebral vascular morphology |
ORPHA:743 |
| Thymic Carcinoma |
|
Abnormal vena cava morphology, Palpebral edema, Neoplasm of the thymus, Edema |
ORPHA:99868 |
| Neuromuscular Oculoauditory Syndrome |
|
Respiratory distress, Agenesis of corpus callosum, Aspiration |
OMIM:618733 |
| Craniopharyngioma |
|
Enlarged pituitary gland, Type II diabetes mellitus, Central adrenal insufficiency, Abnormal hypo... |
ORPHA:54595 |
| Congenital Fibrinogen Deficiency |
|
Bruising susceptibility, Cyanosis, Subcutaneous hemorrhage |
ORPHA:335 |
| Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Cavum septum pellucidum, Respiratory distress, Hypoplasia of the corpus callosum |
OMIM:619383 |
| Oculopharyngodistal Myopathy 1 |
|
Respiratory distress, Hypercapnia, Reduced forced vital capacity, Abnormal cerebral white matter ... |
OMIM:164310 |
| Primary Dystonia, Dyt4 Type |
|
Respiratory distress, Eunuchoid habitus |
ORPHA:98805 |
| Meckel Syndrome 14 |
|
Holoprosencephaly, Cyanosis, Pneumothorax, Cardiorespiratory arrest, Occipital encephalocele |
OMIM:619879 |
| Sheehan Syndrome |
|
Adrenocorticotropic hormone deficiency, Central adrenal insufficiency, Reduced circulating prolac... |
ORPHA:91355 |
| Oromandibular Dystonia |
|
Respiratory distress, Weight loss |
ORPHA:93958 |
| Esophageal Atresia |
|
Respiratory distress, Laryngotracheomalacia, Episodic respiratory distress, Chronic pulmonary obs... |
ORPHA:1199 |
| Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1 |
|
Nonarteritic anterior ischemic optic neuropathy, Stroke, Lacunar stroke, Varicose veins |
OMIM:125310 |
| Familial Adenomatous Polyposis |
|
Cholangiocarcinoma, Pancreatitis, Hepatoblastoma, Stomach cancer, Abnormality of the dentition, S... |
ORPHA:733 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Asthma, Urticaria, Sinusitis, Cutis marmorata, Respiratory insufficiency, Cough, Purpura, Weight ... |
ORPHA:183 |
| Hypogonadotropic Hypogonadism 6 With Or Without Anosmia |
|
High palate, Small pituitary gland, Micropenis, Hypogonadotropic hypogonadism, Cleft lip, Cryptor... |
OMIM:612702 |
| Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Prominent veins on trunk, High palate, Periodontitis, Premature loss of teeth, Narrow palate, Too... |
ORPHA:536532 |
| Hereditary Bullous Dystrophy, Macular Type |
|
Microcephaly, Acrocyanosis, Pneumonia |
ORPHA:1867 |
| Scimitar Syndrome |
|
Double outlet right ventricle, Hypoplasia of the diaphragm, Anomalous pulmonary venous return, Le... |
ORPHA:185 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Respiratory distress |
ORPHA:289916 |
| 22Q11.2 Deletion Syndrome |
|
Cholelithiasis, Cleft palate, Abnormality of the dentition, Short philtrum, Carious teeth, Optic ... |
ORPHA:567 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Respiratory distress, Episodic tachypnea, Apneic episodes in infancy, Dyspnea, Intermittent hyper... |
ORPHA:348 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Airway obstruction, Cyanosis, Orthopnea, Breathing dysregulation, Pneumonia, Dyspnea, Exertional ... |
ORPHA:99103 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Flexion contracture of finger, Hepatomegaly, Hypergonadotropic hypogonadism, Pancreatic hypoplasi... |
OMIM:602782 |
| Odontochondrodysplasia 1 |
|
Respiratory distress, Death in infancy |
OMIM:184260 |
| Nasolacrimal Duct Cyst |
|
Episodic respiratory distress, Intercostal retractions, Abnormal breath sound, Paroxysmal dyspnea... |
ORPHA:141083 |
| Ethylene Glycol Poisoning |
|
Episodic respiratory distress, Cyanosis, Tachypnea, Abnormal pattern of respiration, Cerebral edema |
ORPHA:31826 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Cyanosis |
OMIM:250790 |
| Hypothyroidism Due To Tsh Receptor Mutations |
|
Decreased circulating T4 concentration, Increased radioactive iodine uptake, Macroglossia, Impair... |
ORPHA:90673 |
| X-Linked Intellectual Disability, Nascimento Type |
|
Wide mouth, Double outlet right ventricle, Peripheral pulmonary artery stenosis, Tetralogy of Fal... |
ORPHA:163956 |
| H Syndrome |
|
Cleft upper lip, Abnormal eyebrow morphology, Malabsorption, Gingival overgrowth, Hypertrichosis,... |
ORPHA:168569 |
| Prader-Willi Syndrome |
|
Stroke, Central adrenal insufficiency, External genital hypoplasia, Abnormality of the dentition,... |
ORPHA:739 |
| Chitayat Syndrome |
|
Respiratory distress, Tracheomalacia |
OMIM:617180 |
| Hyperparathyroidism, Transient Neonatal |
|
Respiratory distress |
OMIM:618188 |
| Synaptic Congenital Myasthenic Syndromes |
|
Respiratory distress, Sleep apnea, Respiratory insufficiency, Neonatal respiratory distress, Exer... |
ORPHA:98915 |
| Dravet Syndrome |
|
Cyanotic episode |
ORPHA:33069 |
| Lymphatic Malformation 7 |
|
Facial edema, Pulmonary edema, Nonimmune hydrops fetalis, Lymphedema, Edema, Varicose veins, Peri... |
OMIM:617300 |
| Genetic Transient Congenital Hypothyroidism |
|
Thyroid defect in oxidation and organification of iodide, Decreased circulating T4 concentration,... |
ORPHA:226316 |
| Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Respiratory distress, Microcephaly, Pulmonary arterial hypertension, Hypoplasia of the corpus cal... |
ORPHA:2519 |
| Hypermobile Ehlers-Danlos Syndrome |
|
Abnormal palate morphology, Malabsorption, Gingival overgrowth, Tendon rupture, Decreased nerve c... |
ORPHA:285 |
| Foix-Alajouanine Syndrome |
|
Myelopathy, Lower limb muscle weakness, Arteriovenous fistula, Venous malformation, Distal lower ... |
ORPHA:79093 |
| Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Respiratory distress, Apnea, Aspiration pneumonia, Recurrent pneumonia, Hypoventilation |
ORPHA:314655 |
| Microphthalmia With Limb Anomalies |
|
High palate, Cleft upper lip, Abnormal eyebrow morphology, Cleft palate, Thin vermilion border, C... |
ORPHA:1106 |
| Erythrocytosis, Familial, 2 |
|
Elevated circulating erythropoietin concentration, Stroke, Cerebral hemorrhage, Hemangioma, Hypot... |
OMIM:263400 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Respiratory distress, Leukoencephalopathy, Hydrocephalus, Failure to thrive, Cerebral atrophy, Ja... |
ORPHA:79282 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Decreased thyroid-stimulating hormone level, Decreased circulating T4 concentration, Facial edema... |
ORPHA:90674 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory distress, Respiratory failure |
OMIM:617895 |
| Von Willebrand Disease |
|
Venous insufficiency |
ORPHA:903 |
| Atrial Septal Defect, Coronary Sinus Type |
|
Cyanosis, Pneumonia, Exertional dyspnea, Dyspnea, Pulmonary arterial hypertension, Increased pulm... |
ORPHA:99104 |
| Neurotrophic Keratopathy |
|
Corneal stromal edema, Abnormal fifth cranial nerve morphology, Diabetes mellitus |
ORPHA:137596 |
| Goldberg-Shprintzen Megacolon Syndrome |
|
Sparse scalp hair, Sparse eyebrow, Cleft palate, Bifid scrotum, Hypospadias, Aganglionic megacolon |
ORPHA:66629 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Respiratory distress, Cerebral calcification, Microcephaly, Death in childhood, Recurrent pneumonia |
OMIM:617303 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
High palate, Hepatomegaly, Cleft palate, Splenomegaly, Pulmonic stenosis, Mitral regurgitation, H... |
OMIM:612541 |
| Spinocerebellar Ataxia, X-Linked 3 |
|
Episodic respiratory distress, Episodic hypoventilation, Death in infancy |
OMIM:301790 |
| Tsh-Secreting Pituitary Adenoma |
|
Supraventricular arrhythmia, Central adrenal insufficiency, Increased circulating prolactin conce... |
ORPHA:91347 |
| Diaphanospondylodysostosis |
|
Respiratory distress, Respiratory insufficiency, Polymicrogyria, Tracheomalacia |
OMIM:608022 |
| Tarp Syndrome |
|
Failure to thrive, Cyanosis, Apnea, Abnormal corpus callosum morphology |
ORPHA:2886 |
| Episodic Ataxia Type 1 |
|
Respiratory distress |
ORPHA:37612 |
| Criss-Cross Heart |
|
Respiratory insufficiency, Cyanosis |
ORPHA:1461 |
| Moebius Syndrome |
|
Respiratory distress |
OMIM:157900 |
| Japanese Encephalitis |
|
Respiratory distress, Irregular respiration, Respiratory paralysis, Abnormality of the internal c... |
ORPHA:79139 |
| Prolactinoma |
|
Abnormality of the pituitary gland, Adrenocorticotropic hormone deficiency, Elevated circulating ... |
ORPHA:2965 |
| Kniest Dysplasia |
|
Respiratory distress, Umbilical hernia, Tracheomalacia |
OMIM:156550 |
| Truncus Arteriosus |
|
Single coronary artery origin, Abnormal coronary artery morphology, Anomalous origin of the left ... |
ORPHA:3384 |
| Tetanus |
|
Respiratory distress, Tachypnea |
ORPHA:3299 |
| Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Hydrocele testis, Telangiectasia of the skin, Nephroblastoma, Multiple lipomas, Ovarian serous cy... |
ORPHA:276280 |
| Rodrigues Blindness |
|
Nasal flaring, Ectodermal dysplasia |
OMIM:268320 |
| Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Lipoma, Splenomegaly, Nephroblastoma, Spinal dysraphism, Venous malformation |
OMIM:612918 |
| Inhalational Anthrax |
|
Respiratory distress, Dyspnea |
ORPHA:247257 |
| Trichorhinophalangeal Syndrome, Type Ii |
|
Chronic gastritis, Sparse hair, Scapular exostoses, Carious teeth, Myocardial infarction, Bilater... |
OMIM:150230 |
| Poems Syndrome |
|
Restrictive ventilatory defect, Pleural effusion, Weight loss, Pulmonary arterial hypertension, A... |
ORPHA:2905 |
| Hereditary Angioedema Type 1 |
|
Respiratory distress, Urticaria, Dermatographic urticaria, Inspiratory stridor, Dyspnea |
ORPHA:100050 |
| Unilateral Polymicrogyria |
|
Perisylvian polymicrogyria, Apnea, Microcephaly, Cyanosis, Cortical dysplasia, Epistaxis |
ORPHA:268943 |
| Pitt-Hopkins Syndrome |
|
Failure to thrive, Sleep apnea, Small cerebral cortex, Microcephaly, Hyperventilation, Abnormal p... |
ORPHA:2896 |
| Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Abnormality of the endocrine system, Absent eyebrow, Alopecia, Heart murmur, Abnormal vena cava m... |
ORPHA:166035 |
| Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Sparse eyebrow, Streak ovary, Hypergonadotropic hypogonadism, Alopecia, Contracture of the proxim... |
ORPHA:2232 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hyperkalemia, Hypochloremia, Hyponatremia |
ORPHA:90794 |
| Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome |
|
Thin vermilion border, Short philtrum, Camptodactyly, Aortic dissection, Vascular dilatation, Den... |
OMIM:618343 |
| Cryptococcosis |
|
Respiratory distress, Hydrocephalus, Cerebral cortical atrophy, Cough, Pneumonia, Pleural effusio... |
ORPHA:1546 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Failure to thrive, Focal hypointensity of cerebral white matter on MRI, Large basal ganglia, Hypo... |
ORPHA:261552 |
| Thoracic Outlet Syndrome |
|
Varicose veins, Edema |
ORPHA:97330 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Respiratory distress, Restrictive ventilatory defect, Cervical myelopathy |
OMIM:183900 |
| Brucellosis |
|
Abnormality of the liver, Transient ischemic attack, Orchitis, Hepatomegaly, Splenomegaly, Myocar... |
ORPHA:1304 |
| Loeys-Dietz Syndrome 6 |
|
Carotid artery dilatation, High palate, Thoracic aortic aneurysm, Abdominal aortic aneurysm, Vert... |
OMIM:619656 |
| Fucosidosis |
|
Failure to thrive, Vascular skin abnormality, Acrocyanosis |
ORPHA:349 |
| Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Bicornuate uterus, Aplasia/Hypoplasia of the pancreas, Papillary cystadenoma of the epididymis, A... |
ORPHA:93111 |
| Biotinidase Deficiency |
|
Respiratory distress, Apnea, Myelopathy, Hyperventilation |
ORPHA:79241 |
| Absence Of The Pulmonary Artery |
|
Pulmonary edema, Systolic heart murmur, Tachycardia, Abnormal coronary artery morphology, Tetralo... |
ORPHA:980 |
| Hyperimmunoglobulinemia D With Periodic Fever |
|
Urticaria, Purpura, Erythema, Acrocyanosis |
ORPHA:343 |
| Liposarcoma |
|
Sarcoma, Varicose veins |
ORPHA:69078 |
| Lymphatic Filariasis |
|
Hydrocele testis, Predominantly lower limb lymphedema, Orchitis, Urethral obstruction, Epididymit... |
ORPHA:2035 |
| Methylmalonic Aciduria, Cblb Type |
|
Respiratory distress, Failure to thrive |
OMIM:251110 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Respiratory distress, Microcephaly, Recurrent pneumonia, Cerebral atrophy |
OMIM:616271 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Respiratory distress, Failure to thrive, Hydrocephalus, Absent septum pellucidum, Microcephaly, E... |
ORPHA:2556 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Respiratory distress, Jaundice, Prolonged neonatal jaundice |
OMIM:274150 |
| Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs, And Partial/Generalized Overgrowth |
|
Capillary malformation of the lip, Lymphedema, Varicose veins, Venous malformation |
OMIM:613089 |
| Lujo Hemorrhagic Fever |
|
Respiratory distress, Nonproductive cough, Crackles, Purpura, Ecchymosis, Rhinitis, Cerebral edema |
ORPHA:319213 |
| Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis |
|
Respiratory distress, Failure to thrive in infancy |
OMIM:612852 |
| Pachyonychia Congenita |
|
Respiratory distress, Failure to thrive |
ORPHA:2309 |
| Methylmalonic Aciduria, Cbla Type |
|
Respiratory distress, Failure to thrive |
OMIM:251100 |
| Adnp Syndrome |
|
Respiratory distress, Focal white matter lesions, Cerebral atrophy, Microcephaly, Hypoplasia of t... |
ORPHA:404448 |
| Shwachman-Diamond Syndrome 1 |
|
Respiratory distress, Failure to thrive, Neonatal respiratory distress, Small for gestational age |
OMIM:260400 |
| Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Progressive microcephaly, Microcephaly, Respiratory distress |
OMIM:610536 |
| Vascular Ehlers-Danlos Syndrome |
|
Telangiectasia of the skin, Abnormality of hair texture, Alopecia, Abnormality of the dentition, ... |
ORPHA:286 |
| Mogs-Cdg |
|
Respiratory distress, Apnea, Hypoventilation, Hypoplasia of the corpus callosum |
ORPHA:79330 |
| Congenital Tracheal Stenosis |
|
Respiratory distress, Neonatal asphyxia, Cyanosis, Wheezing, Upper airway obstruction, Dyspnea |
ORPHA:141127 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Hypertrichosis, Flexion contracture of finger, Hepatomegaly, Premature graying of hair, Flexion c... |
OMIM:256040 |
| Ramos-Arroyo Syndrome |
|
Respiratory distress, Decreased body weight, Primary microcephaly, Severe failure to thrive |
ORPHA:1051 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
High palate, Wide mouth, Delayed eruption of teeth, Cholestasis, Congenital Horner syndrome, Hori... |
OMIM:619503 |
| Acquired Purpura Fulminans |
|
Macular purpura, Acrocyanosis |
ORPHA:49566 |
| Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Respiratory distress, Hydrocephalus, Umbilical hernia |
ORPHA:1555 |
| Idiopathic Hypereosinophilic Syndrome |
|
Respiratory distress, Failure to thrive, Urticaria, Asthma, Vasculitis in the skin, Cutis marmora... |
ORPHA:3260 |
| Q Fever |
|
Respiratory distress, Cough, Purpura, Pneumonia, Pleural effusion, Weight loss |
ORPHA:781 |
| Pfeiffer Syndrome Type 2 |
|
Respiratory distress, Hydrocephalus, Aqueductal stenosis, Tracheomalacia |
ORPHA:93259 |
| Bilateral Polymicrogyria |
|
Facial diplegia, Wide mouth, Central hypothyroidism, Difficulty in tongue movements, Abnormality ... |
ORPHA:268940 |
| Prader-Willi Syndrome Due To Translocation |
|
Respiratory distress, Cerebral cortical atrophy, Microcephaly, Lateral ventricle dilatation, Obesity |
ORPHA:177907 |
| Alternating Hemiplegia Of Childhood |
|
Respiratory distress, Failure to thrive, Flushing, Apnea, Aspiration |
ORPHA:2131 |
| Farber Disease |
|
Respiratory distress, Failure to thrive, Respiratory insufficiency |
ORPHA:333 |
| Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Chronic gastritis, Celiac disease, Viral hepatitis, Lymphoma, Cholecystitis, Epididymitis, Cholan... |
ORPHA:183675 |
| Radio-Renal Syndrome |
|
Respiratory distress, Chylothorax, Pleural effusion, Dyspnea, Respiratory failure |
ORPHA:3015 |
| Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Failure to thrive, Cyanosis, Pulmonary arterial hypertension, Exertional dyspnea |
ORPHA:99050 |
| Goodpasture Syndrome |
|
Increased DLCO, Cyanosis, Crackles, Tachypnea, Cough, Restrictive ventilatory defect, Exertional ... |
OMIM:233450 |
| Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Respiratory distress |
OMIM:606164 |
| Arterial Tortuosity Syndrome |
|
Respiratory distress, Telangiectasia of the skin, Prematurely aged appearance, Cardiorespiratory ... |
ORPHA:3342 |
| Rare Circulatory System Disease |
|
Cyanosis |
ORPHA:98028 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Respiratory distress, Leukoencephalopathy, Failure to thrive, Apnea, Cerebral atrophy, Abnormal b... |
ORPHA:17 |
| Angioosteohypertrophic Syndrome |
|
Telangiectasia of the skin, Peripheral arteriovenous fistula, Multiple lipomas, Pulmonary embolis... |
ORPHA:2346 |
| Bacterial Toxic-Shock Syndrome |
|
Respiratory distress, Sinusitis, Tachypnea, Ecchymosis, Pneumonia |
ORPHA:36234 |
| Hemorrhagic Fever-Renal Syndrome |
|
Respiratory distress, Decreased body weight, Petechiae, Epistaxis, Cough, Ecchymosis, Pneumonia, ... |
ORPHA:340 |
| Congenital Enterovirus Infection |
|
Respiratory distress, Pleural effusion |
ORPHA:292 |
| Loeys-Dietz Syndrome 3 |
|
High palate, Tortuous cerebral arteries, Cleft palate, Aortic tortuosity, Subarachnoid hemorrhage... |
OMIM:613795 |
| Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Respiratory distress, Abnormal cortical gyration, Hypoplasia of the corpus callosum |
OMIM:300968 |
| Mgat2-Cdg |
|
Progressive microcephaly, Failure to thrive, Respiratory distress |
ORPHA:79329 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Respiratory distress, Hydrocephalus, Airway obstruction, Cerebral calcification, Pulmonary arteri... |
ORPHA:505248 |
| Myasthenia Gravis |
|
Dyspnea, Acrocyanosis |
ORPHA:589 |
| Meier-Gorlin Syndrome 1 |
|
Respiratory distress, Failure to thrive, Small for gestational age, Microcephaly, Death in infanc... |
OMIM:224690 |
| Auriculocondylar Syndrome |
|
Respiratory distress, Snoring, Obstructive sleep apnea |
ORPHA:137888 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory distress, Failure to thrive, Sleep apnea, Respiratory insufficiency, Orthopnea, Exert... |
ORPHA:365 |
| Spinal muscular atrophy, type I, with congenital bone fractures |
|
Respiratory distress |
OMIM:271225 |
| Toxic Epidermal Necrolysis |
|
Respiratory distress, Erythema, Cough, Restrictive ventilatory defect, Weight loss |
ORPHA:537 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Respiratory distress, Urticaria, Cachexia, Interstitial pneumonitis, Pneumonia, Failure to thrive... |
ORPHA:37042 |
| Nocardiosis |
|
Respiratory distress, Nonproductive cough, Pneumothorax, Productive cough, Pneumonia, Emphysema, ... |
ORPHA:31204 |
| Mitochondrial Dna-Associated Leigh Syndrome |
|
Failure to thrive, Apnea, Episodic respiratory distress, Focal T2 hyperintense basal ganglia lesi... |
ORPHA:255210 |
| Atrioventricular Septal Defect 3 |
|
Cyanosis, Pulmonary arterial hypertension |
OMIM:600309 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Myelomeningocele, Failure to thrive, Hydrocephalus, Respiratory distress, Aqueductal stenosis, Cy... |
OMIM:306955 |
| Igg4-Related Thyroid Disease |
|
Abnormality of the pituitary gland, Graves disease, Sialadenitis, Euthyroid goiter, Pancreatic fi... |
ORPHA:64744 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Cholelithiasis, Gastric ulcer, Splenomegaly, Papilledema, Calcification of the aorta, Hepatosplen... |
ORPHA:2072 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Asthma, Central hypoventilation, Cyanosis, Cardiorespiratory arrest, Obesity, Hypoventilation, Ob... |
ORPHA:293987 |
| Campomelic Dysplasia |
|
Respiratory distress, Failure to thrive, Hydrocephalus, Apnea, Tracheomalacia, Tracheobronchomala... |
OMIM:114290 |
| Pfeiffer Syndrome Type 3 |
|
Respiratory distress, Aqueductal stenosis, Tracheomalacia |
ORPHA:93260 |
| Kallmann Syndrome-Heart Disease Syndrome |
|
Cyanosis |
ORPHA:2326 |
| Renal Dysplasia-Limb Defects Syndrome |
|
Respiratory distress, Pneumothorax, Respiratory failure, Neonatal death |
OMIM:266910 |
| Aicardi-Goutières Syndrome |
|
Multifocal cerebral white matter abnormalities, Cerebral calcification, Cutis marmorata, Microcep... |
ORPHA:51 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Respiratory distress, Hydrocephalus, Bruising susceptibility, Tracheomalacia, Repeated pneumothor... |
ORPHA:536467 |
| Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Prostatitis, Decreased response to growth hormone stimulation test, Enteroviral hepatitis, Epidid... |
OMIM:307200 |
| Cocaine Intoxication |
|
Respiratory distress, Wheezing, Tachypnea, Cough, Hyperventilation, Pneumothorax, Ischemic stroke |
ORPHA:90068 |
| Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
|
Torticollis, Cryptorchidism, Oligospermia, Varicose veins |
OMIM:314300 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Respiratory distress, Microcephaly |
ORPHA:438216 |
| Gitelman Syndrome |
|
Graves disease, Type I diabetes mellitus, Primary hyperaldosteronism, Prolonged QT interval, Abno... |
ORPHA:358 |
| Aortic Arch Interruption |
|
Respiratory distress, Exertional dyspnea, Cyanosis, Tachypnea |
ORPHA:2299 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cyanosis |
OMIM:261740 |
| Behcet Syndrome |
|
Patchy alopecia, Raynaud phenomenon, Genital ulcers, Epididymitis, Oral ulcer |
OMIM:109650 |
| Familial Cerebral Cavernous Malformation |
|
Neuroma, Cerebral hemorrhage, Hemangioma, Choroidal hemangioma, Venous malformation, Meningioma |
ORPHA:221061 |
| Igg4-Related Kidney Disease |
|
Decreased liver function, Sialadenitis, Pancreatitis, Prostatitis, Arteritis, Urethritis, Scleros... |
ORPHA:449395 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Respiratory distress, Dyspnea |
OMIM:115197 |
| Ear-Patella-Short Stature Syndrome |
|
Respiratory distress, Failure to thrive, Microcephaly, Dyspnea, Respiratory failure |
ORPHA:2554 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Respiratory distress, Failure to thrive, Stridor, Fragile skin, Pneumonia, Pneumothorax, Dyspnea,... |
ORPHA:79404 |
| Autoimmune Polyendocrinopathy Type 3 |
|
Thymoma, Graves disease, Alopecia, Hypergonadotropic hypogonadism, Xerostomia, Autoimmune hypopar... |
ORPHA:227982 |
| Hutchinson-Gilford Progeria Syndrome |
|
Prominent superficial blood vessels, Severe failure to thrive, Cyanosis, Generalized abnormality ... |
ORPHA:740 |
| Listeriosis |
|
Respiratory distress, Miscarriage, Respiratory failure, Pneumonia, Jaundice |
ORPHA:533 |
| Congenital Disorder Of Deglycosylation 1 |
|
Respiratory distress, Microcephaly, Decreased body weight, Central sleep apnea |
OMIM:615273 |
| Schinzel-Giedion Syndrome |
|
Respiratory distress, Cerebral cortical atrophy, Hypoplasia of the corpus callosum, Neural tube d... |
ORPHA:798 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Decreased circulating androgen concentration, Decreased response to growth hormone stimulation te... |
ORPHA:293978 |
| Occipital Horn Syndrome |
|
Hiatus hernia, High, narrow palate, Exostoses, Coarse hair, Long philtrum, Cholestasis, Hepatitis... |
ORPHA:198 |
| Autoimmune Polyendocrinopathy Type 4 |
|
Thymoma, Alopecia, Hypergonadotropic hypogonadism, Xerostomia, Atrophic gastritis, Hepatitis, Typ... |
ORPHA:227990 |
| Osteoglophonic Dysplasia |
|
Respiratory distress, Failure to thrive |
OMIM:166250 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Decreased sensitivity to hypoxemia, Acrocyanosis |
OMIM:223900 |
| Arteriovenous Malformations Of The Brain |
|
Cerebral arteriovenous malformation |
OMIM:108010 |
| Dermatomyositis |
|
Telangiectasia of the skin, Respiratory insufficiency, Erythema, Cutaneous photosensitivity, Weig... |
ORPHA:221 |
| Tuberous Sclerosis Complex |
|
Respiratory distress, Cortical tubers, Generalized abnormality of skin, Cortical dysplasia, Nonco... |
ORPHA:805 |
| Cardiac Valvular Dysplasia 2 |
|
Central cyanosis |
OMIM:620067 |
| Postinfectious Vasculitis |
|
Vasculitis in the skin, Cutis marmorata, Palpable purpura, Pneumonia, Weight loss, Ischemic strok... |
ORPHA:48435 |
| Eisenmenger Syndrome |
|
Respiratory distress, Cyanosis, Wheezing, Hypoxemia, Exertional dyspnea, Pulmonary arterial hyper... |
ORPHA:97214 |
| Coccidioidomycosis |
|
Respiratory distress, Hydrocephalus, Pleural empyema, Cough, Pneumonia, Exudative pleural effusion |
ORPHA:228123 |
| Ehlers-Danlos Syndrome, Vascular Type |
|
Uterine prolapse, Periodontitis, Premature loss of teeth, Cystocele, Uterine rupture, Hemothorax,... |
OMIM:130050 |
| Kasabach-Merritt Syndrome |
|
Respiratory distress, Hypopnea, Purpura, Petechiae |
ORPHA:2330 |
| Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Respiratory distress, Hypohidrotic ectodermal dysplasia, Rhinitis, Periorbital wrinkles |
OMIM:305100 |
| Colchicine Poisoning |
|
Respiratory distress, Cardiorespiratory arrest |
ORPHA:31824 |
| Diamond-Blackfan Anemia 10 |
|
Respiratory distress |
OMIM:613309 |
| Woodhouse-Sakati Syndrome |
|
Anodontia, Hypoplasia of the uterus, Decreased serum testosterone concentration, Abnormal T-wave,... |
OMIM:241080 |
| Agammaglobulinemia, X-Linked |
|
Enteroviral hepatitis, Epididymitis, Hepatocellular carcinoma, Prostatitis |
OMIM:300755 |
| Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Respiratory distress, Respiratory acidosis, Microcephaly, Erythema, Fragile skin, Neonatal respir... |
OMIM:614748 |
| Congenital Alveolar Capillary Dysplasia |
|
Respiratory distress, Pulmonary arterial hypertension |
ORPHA:210122 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Uterine prolapse, Abnormality of the endocrine system, Precocious puberty, Pulmonic stenosis, Inc... |
ORPHA:438213 |
| Arboleda-Tham Syndrome |
|
Respiratory distress, Microcephaly, Recurrent aspiration pneumonia, Primary microcephaly, Neonata... |
OMIM:616268 |
| Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Macroglossia, Congenital hypothyroidism, Ectopic thyroid, Hypothyroidism, Elevated circulating th... |
OMIM:218700 |
| Varicose Veins |
|
Varicose veins |
OMIM:192200 |
| Thauvin-Robinet-Faivre Syndrome |
|
Macroglossia, Nephroblastoma, Renal cyst, Thick vermilion border, Varicose veins |
OMIM:617107 |
| Generalized Arterial Calcification Of Infancy |
|
Respiratory distress, Cerebral calcification, Cyanosis, Encephalomalacia, Pulmonary arterial hype... |
ORPHA:51608 |
