Pseudohypoaldosteronism, Type Iib |
|
Hyperchloremia, Hyperkalemia |
OMIM:614491 |
Pseudohypoaldosteronism, Type Iid |
|
Hyperchloremia, Hyperkalemia |
OMIM:614495 |
Pseudohypoaldosteronism, Type Iie |
|
Hyperchloremia, Hyperkalemia |
OMIM:614496 |
Von Hippel-Lindau Disease |
|
Myocardial infarction, Pancreatic endocrine tumor, Adrenal pheochromocytoma, Papillary cystadenom... |
ORPHA:892 |
Pseudohypoaldosteronism, Type Iic |
|
Hyperchloremia, Hyperkalemia, Decreased circulating renin level |
OMIM:614492 |
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Respiratory distress, Polymicrogyria, Agenesis of corpus callosum, Primary microcephaly |
ORPHA:171703 |
Von Hippel-Lindau Syndrome |
|
Neoplasm of the pancreas, Pancreatic cysts, Pulmonary capillary hemangiomatosis, Spinal hemangiob... |
OMIM:193300 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Respiratory distress, Abnormal mucociliary clearance, Bronchiectasis, Lissencephaly, Hypoplasia o... |
OMIM:619466 |
Benign Schwannoma |
|
Intestinal polyposis, Facial palsy, Schwannoma, Peripheral schwannoma, Abnormality of the twelfth... |
ORPHA:252164 |
Diethylstilbestrol Syndrome |
|
Hypospadias, Vaginal neoplasm, Abnormal reproductive system morphology, Cryptorchidism, Testicula... |
ORPHA:1916 |
Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Dyspnea, Upper airway obstruction, Weight loss, Aspiration pneumonia |
ORPHA:141152 |
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Abnormality of the anterior commissure, Hydrocephalus, Agenesis of corpus callosum |
OMIM:617542 |
Muscular Hypertonia, Lethal |
|
Respiratory distress, Umbilical hernia, Pneumonia, Death in infancy |
OMIM:254120 |
Bullous Dystrophy, Hereditary Macular Type |
|
Death in childhood, Acrocyanosis, Microcephaly |
OMIM:302000 |
Laryngotracheal Angioma |
|
Respiratory distress, Cyanosis, Intercostal retractions, Apnea, Wheezing, Stridor, Cough |
ORPHA:137935 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Cyanosis, Tachypnea, Respiratory failure, Cough, Failure to thrive |
OMIM:263000 |
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement |
|
Dysgenesis of the basal ganglia, Agenesis of corpus callosum, Hypoplastic anterior commissure, Hy... |
OMIM:600638 |
Chronic Pneumonitis Of Infancy |
|
Respiratory distress, Cyanosis, Intercostal retractions, Reduced forced vital capacity, Tachypnea... |
ORPHA:91359 |
Phosphoserine Aminotransferase Deficiency |
|
Death in infancy, Cyanotic episode, Apnea, Secondary microcephaly |
OMIM:610992 |
Floating-Harbor Syndrome |
|
Thin upper lip vermilion, Hypospadias, Celiac disease, Carious teeth, Cryptorchidism, Generalized... |
OMIM:136140 |
Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Bronchial breath sound, Cyanosis, Crackles, Nonproductive cough, Dyspnea, W... |
ORPHA:1302 |
Perching Syndrome |
|
Respiratory distress, Cyanosis |
OMIM:617055 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Respiratory distress, Failure to thrive, Cyanosis |
ORPHA:91130 |
Bronchopulmonary Dysplasia |
|
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Small fo... |
ORPHA:70589 |
Arnold-Chiari Malformation Type I |
|
Abnormality of the musculature of the lower limbs, Myelopathy, Cranial nerve compression, Abnorma... |
ORPHA:268882 |
Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia |
OMIM:300971 |
Glossopharyngeal Neuralgia |
|
Vascular dilatation, Cranial nerve compression, Schwannoma, Jaw claudication, Abnormal glossophar... |
ORPHA:221098 |
Seizures, Benign Familial Infantile, 3 |
|
Cyanosis, Apnea |
OMIM:607745 |
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome |
|
Acrocyanosis |
ORPHA:86918 |
Chiari Malformation Type Ii |
|
Cyanosis, Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Agenesis of corpus ... |
OMIM:207950 |
Hereditary Methemoglobinemia |
|
Cyanosis, Small for gestational age, Microcephaly, Temporal cortical atrophy, Exertional dyspnea,... |
ORPHA:621 |
Hypomyelination Neuropathy-Arthrogryposis Syndrome |
|
Respiratory distress |
ORPHA:2680 |
Seizures, Benign Familial Infantile, 1 |
|
Cyanosis, Apnea |
OMIM:601764 |
Emphysema, Congenital Lobar |
|
Respiratory distress |
OMIM:130710 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Dyspnea, Tachypnea, Respiratory... |
OMIM:265120 |
Venular Insufficiency, Systemic |
|
Cyanosis |
OMIM:192700 |
Sulfhemoglobinemia, Congenital |
|
Cyanosis |
OMIM:185460 |
Floating-Harbor Syndrome |
|
Hypospadias, Persistence of primary teeth, Celiac disease, Carious teeth, Precocious puberty, Cry... |
ORPHA:2044 |
Methemoglobinemia, Beta Type |
|
Cyanosis |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Cyanosis |
OMIM:617973 |
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures |
|
Respiratory distress, Reduced cerebral white matter volume, Microcephaly, Hypoplasia of the corpu... |
OMIM:617977 |
Severe X-Linked Mitochondrial Encephalomyopathy |
|
Respiratory distress, Respiratory insufficiency, Abnormal corpus striatum morphology |
ORPHA:238329 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Nonspecif... |
OMIM:610921 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Failure to thrive in in... |
ORPHA:264675 |
Renal Cysts And Diabetes Syndrome |
|
Elevated hepatic transaminase, Diabetes mellitus, Hypospadias, Maturity-onset diabetes of the you... |
OMIM:137920 |
Developmental And Epileptic Encephalopathy 30 |
|
Respiratory distress, Death in infancy |
OMIM:616341 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Failure to thrive in infancy, Simplified gyral pattern, Lateral ventricle dilatation, Lissencepha... |
ORPHA:284417 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Partial agenesis of the corpus callosum, Simplified gyral pattern, Large basal ganglia, Abnormal ... |
ORPHA:300570 |
Congenital Disorder Of Glycosylation, Type Iy |
|
Respiratory distress, Failure to thrive, Hypoplasia of the corpus callosum, Microcephaly |
OMIM:300934 |
Stuve-Wiedemann Syndrome 2 |
|
Respiratory distress, Death in adolescence, Stillbirth, Neonatal death, Pulmonary arterial hypert... |
OMIM:619751 |
High Altitude Pulmonary Edema |
|
Orthopnea, Cyanosis, Crackles, Dyspnea, Tachypnea, Hypoxemia, Cough |
ORPHA:330012 |
Pleural Mesothelioma |
|
Respiratory distress, Dyspnea, Abnormal respiratory system physiology, Weight loss, Cough, Pleura... |
ORPHA:50251 |
Asbestos Intoxication |
|
Reduced vital capacity, Cyanosis, Reduced forced vital capacity, Nonproductive cough, Dyspnea, Wh... |
ORPHA:2302 |
Obesity-Hypoventilation Syndrome |
|
Hypoventilation, Cyanosis, Obesity |
OMIM:257500 |
Venous Malformations, Multiple Cutaneous And Mucosal |
|
Intestinal bleeding, Venous malformation |
OMIM:600195 |
Neuralgic Amyotrophy |
|
Acrocyanosis, Respiratory insufficiency |
ORPHA:2901 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Cyanosis, Spontaneous pneumothorax, Nonspecific interstitial pneumonia, Red... |
OMIM:610913 |
Recurrent Respiratory Papillomatosis |
|
Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction... |
ORPHA:60032 |
Primary Pulmonary Hypoplasia |
|
Neonatal respiratory distress, Cyanosis, Apnea, Microcephaly, Asthma, Tachypnea, Pneumothorax, Hy... |
ORPHA:2257 |
Combined Oxidative Phosphorylation Deficiency 30 |
|
Respiratory distress, Death in infancy, Failure to thrive, Polymicrogyria |
OMIM:616974 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Central apnea, Cyanosis, Progressive microcephaly |
ORPHA:71277 |
Severe Acute Respiratory Syndrome |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu... |
ORPHA:140896 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Skeletal muscle atrophy, Streak ovary, Abnormality of female external genitalia, Abnormal periphe... |
ORPHA:168563 |
Congenital Myopathy 10A, Severe Variant |
|
Respiratory distress, Respiratory insufficiency, Restrictive ventilatory defect, Respiratory fail... |
OMIM:614399 |
Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Dyspnea, Respiratory failure, Microcephaly |
ORPHA:1832 |
Isolated Splenogonadal Fusion |
|
Abnormal penis morphology, Unilateral cryptorchidism, Bilateral cryptorchidism, Increased circula... |
ORPHA:457083 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Decreased body weight |
OMIM:300580 |
Immunodeficiency 95 |
|
Respiratory distress, Respiratory failure, Recurrent viral pneumonia |
OMIM:619773 |
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome |
|
Abnormality of the anterior commissure, Pachygyria, Thin corpus callosum |
ORPHA:572013 |
Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap... |
OMIM:254210 |
Congenital Pulmonary Lymphangiectasia |
|
Respiratory distress, Cyanosis, Chronic pulmonary obstruction, Cough, Pulmonary arterial hyperten... |
ORPHA:2414 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Tongue... |
OMIM:601596 |
Lissencephaly 9 With Complex Brainstem Malformation |
|
Microcephaly, Hypoplastic anterior commissure, Lissencephaly, Hypoplasia of the corpus callosum, ... |
OMIM:618325 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Multifocal hyperintensity of cerebral white matter on MRI, Cyanosis, Failure to thrive in infancy... |
ORPHA:488627 |
Laryngotracheoesophageal Cleft |
|
Neonatal respiratory distress, Cyanosis, Dyspnea, Stridor, Cough, Aspiration |
ORPHA:2004 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia |
OMIM:214700 |
Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap... |
OMIM:605809 |
Familial Multiple Nevi Flammei |
|
Edema, Pulmonary embolism, Venous insufficiency, Intracranial hemorrhage, Arteriovenous malformat... |
ORPHA:624 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Failure to thrive, Microcephaly |
ORPHA:26792 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Respiratory distress, Crackles, Dyspnea, Chronic pulmonary obstruction, Pneumothorax, Bronchiecta... |
ORPHA:411703 |
Bardet-Biedl Syndrome 16 |
|
Respiratory distress, Obesity |
OMIM:615993 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Respiratory distress, Cerebral calcification, 4-layered lissencephaly, Microlissencephaly, Hypopl... |
ORPHA:89844 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Abnormal basal ganglia MRI signal intensity, Cyanosis, Stridor, Respiratory failure, Paroxysmal d... |
ORPHA:444013 |
Pulmonary Alveolar Proteinosis, Acquired |
|
Cyanosis, Pneumonia, Dyspnea, Inspiratory crackles, Hypoxemia, Restrictive ventilatory defect, Co... |
OMIM:610910 |
Congenital Disorder Of Glycosylation, Type Iu |
|
Respiratory distress, Death in infancy, Cerebral white matter atrophy, Neonatal respiratory distr... |
OMIM:615042 |
Klippel-Trénaunay Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Peripheral arteriovenous fistula, Edema, Pulmonary emb... |
ORPHA:90308 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Spermatocele, Obstructive azoospermia |
OMIM:301060 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory distress, Failure to thrive in infancy, Respiratory insufficiency due to muscle weakn... |
ORPHA:254875 |
Burning Mouth Syndrome |
|
Abnormality of taste sensation, Parageusia, Abnormal fifth cranial nerve morphology, Abnormality ... |
ORPHA:353253 |
Laryngeal Abductor Paralysis |
|
Stridor, Cyanosis, Microcephaly |
OMIM:150260 |
Infant Acute Respiratory Distress Syndrome |
|
Cyanosis, Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure |
ORPHA:70587 |
Benign Familial Infantile Epilepsy |
|
Cyanosis, Apnea |
ORPHA:306 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Respiratory distress, Failure to thrive, Cachexia, Weight loss |
OMIM:612075 |
Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Pneumonia, Reduced forced expiratory volume in one second, Reduced forced vital capacity, Dyspnea... |
ORPHA:1303 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive |
|
Respiratory distress, Failure to thrive, Lymphocytic interstitial pneumonia |
OMIM:245590 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Cyanosis, Crackles, Dyspnea, Weight loss, Hypoxemia, Restrictive ventilatory defect, Cough, Decre... |
ORPHA:747 |
Congenital Disorder Of Glycosylation, Type Ix |
|
Respiratory distress, Failure to thrive, Death in childhood, Microcephaly |
OMIM:615597 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Orthopnea, Reduced vital capacity, Cyanosis, Restrictive ventilatory defect, Respiratory failure,... |
ORPHA:98913 |
Encephalopathy, Ethylmalonic |
|
Death in infancy, Acrocyanosis, Focal T2 hyperintense basal ganglia lesion, Failure to thrive, Pe... |
OMIM:602473 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Hypokalemia, Hypochloremia |
OMIM:613090 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Respiratory distress |
OMIM:619099 |
Cyanosis, Transient Neonatal |
|
Jaundice, Cyanosis |
OMIM:613977 |
Gaucher Disease Type 2 |
|
Respiratory distress, Abnormal pattern of respiration, Cough |
ORPHA:77260 |
Succinic Acidemia |
|
Respiratory distress |
OMIM:600335 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... |
ORPHA:95494 |
Proteus Syndrome |
|
Splenomegaly, Multiple lipomas, Hemangioma, Lipoma, Open mouth, Venous malformation |
OMIM:176920 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Exertional dyspnea, Cyanosis, Microcephaly |
OMIM:250800 |
Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea |
OMIM:267450 |
Cardiomyopathy, Dilated, 1Gg |
|
Respiratory distress |
OMIM:613642 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Decreased muscle mass, Peripheral axonal neuropathy, Arterial dissection, High, narrow palate, Co... |
ORPHA:1900 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Failure to thrive, Microcephaly, Simplified gyral pattern, Abnormal cerebral white matter morphol... |
OMIM:614407 |
Acquired Methemoglobinemia |
|
Hypoxemia, Dyspnea, Cyanosis, Respiratory distress |
ORPHA:464453 |
Acute Interstitial Pneumonia |
|
Cyanosis, Crackles, Nonproductive cough, Dyspnea, Tachypnea, Bronchiectasis, Hypoxemia, Respirato... |
ORPHA:79126 |
Giant Axonal Neuropathy |
|
Facial palsy, Abnormal pituitary gland morphology, Diffuse axonal swelling, Woolly hair, Limb mus... |
ORPHA:643 |
Breath-Holding Spells |
|
Cyanosis |
OMIM:607578 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Respiratory distress, Failure to thrive, Respiratory insufficiency due to muscle weakness |
OMIM:613561 |
Laryngomalacia |
|
Respiratory distress, Congenital laryngeal stridor |
OMIM:150280 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Microceph... |
OMIM:618426 |
N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress, Failure to thrive |
OMIM:237310 |
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema |
|
Respiratory distress, Angioedema, Erythema, Upper airway obstruction, Urticaria |
ORPHA:100057 |
Thymic Neuroendocrine Tumor |
|
Pancreatic islet cell adenoma, Pituitary null cell adenoma, Neoplasm of the thymus, Pituitary ade... |
ORPHA:97289 |
Parkes Weber Syndrome |
|
Peripheral arteriovenous fistula, Subarachnoid hemorrhage, Cerebral arteriovenous malformation, H... |
ORPHA:90307 |
Milroy Disease |
|
Predominantly lower limb lymphedema, Lymphedema, Pedal edema, Hydrocele testis, Angiosarcoma, Var... |
ORPHA:79452 |
Choanal Atresia |
|
Respiratory distress, Cyanosis, Upper airway obstruction, Tracheomalacia, Chronic sinusitis, Abno... |
ORPHA:137914 |
Enlarged Parietal Foramina |
|
Occipital encephalocele, Multiple exostoses, Cleft lip, Myelomeningocele, Cleft palate, Abnormal ... |
ORPHA:60015 |
Capillary Malformation-Arteriovenous Malformation |
|
Peripheral arteriovenous fistula, Epistaxis, Cerebral arteriovenous malformation, Abnormality of ... |
ORPHA:137667 |
Developmental And Epileptic Encephalopathy 68 |
|
Respiratory distress, Failure to thrive, Cerebral cortical atrophy, Microcephaly |
OMIM:618201 |
Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Hypoxemia... |
ORPHA:36238 |
Diaphanospondylodysostosis |
|
Respiratory distress, Myelomeningocele |
ORPHA:66637 |
Cryofibrinogenemia, Familial Primary |
|
Acrocyanosis |
OMIM:123540 |
Mitochondrial Pyruvate Carrier Deficiency |
|
Respiratory distress, Progressive microcephaly |
OMIM:614741 |
Congenital Tracheomalacia |
|
Neonatal respiratory distress, Cyanosis, Apnea, Intercostal retractions, Pneumonia, Productive co... |
ORPHA:95430 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Respiratory distress, Death in infancy, Neuronal loss in basal ganglia, Cerebral atrophy, Basal g... |
OMIM:604377 |
Pituicytoma |
|
Hypopituitarism, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation ... |
ORPHA:251623 |
Anaplastic Thyroid Carcinoma |
|
Respiratory distress, Dyspnea, Upper airway obstruction, Weight loss, Stridor, Cough |
ORPHA:142 |
Ethylmalonic Encephalopathy |
|
Abnormal basal ganglia MRI signal intensity, Failure to thrive, Acrocyanosis, Petechiae |
ORPHA:51188 |
Bilateral Polymicrogyria |
|
Central hypothyroidism, Wide mouth, Facial diplegia, Abnormal glossopharyngeal nerve morphology, ... |
ORPHA:268940 |
Avian Influenza |
|
Respiratory distress, Miscarriage, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tac... |
ORPHA:454836 |
Agnathia-Otocephaly Complex |
|
Respiratory distress, Agenesis of corpus callosum, Holoprosencephaly, Tracheomalacia |
OMIM:202650 |
Meconium Aspiration Syndrome |
|
Respiratory distress, Neonatal asphyxia, Wheezing, Pneumothorax, Hypoxemia, Aspiration pneumonia,... |
ORPHA:70588 |
Stt3B-Cdg |
|
Respiratory distress, Failure to thrive, Microcephaly |
ORPHA:370924 |
Idiopathic Neonatal Atrial Flutter |
|
Respiratory distress, Tachypnea, Large for gestational age |
ORPHA:45452 |
Benign Familial Neonatal Epilepsy |
|
Circumoral cyanosis, Apnea |
ORPHA:1949 |
Hypoadrenocorticism, Familial |
|
Cyanosis, Apnea |
OMIM:240200 |
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Ventilator dependence w... |
ORPHA:254864 |
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome |
|
Venous insufficiency, Visceral angiomatosis, Congestive heart failure, Ovarian neoplasm, Neoplasm... |
ORPHA:137608 |
Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Respiratory distress, Failure to thrive, Microcephaly |
ORPHA:261304 |
Cleft Larynx, Posterior |
|
Aspiration, Cyanosis |
OMIM:215800 |
Congenital Lobar Emphysema |
|
Respiratory distress, Emphysema |
ORPHA:1928 |
Kaposi Sarcoma |
|
Lymphoproliferative disorder, Lymphedema, Venous insufficiency, Abnormality of the spleen, Neopla... |
ORPHA:33276 |
Malaria |
|
Respiratory distress |
ORPHA:673 |
Tetrasomy 5P |
|
Respiratory distress, Pericallosal lipoma, Cyanosis, Hydrocephalus, Pulmonary arterial hypertensi... |
ORPHA:3309 |
Acute Lung Injury |
|
Respiratory distress, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory failure |
ORPHA:178320 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Respiratory distress, Microcephaly, Corpus callosum atrophy, Cerebral atrophy, Pulmonary arterial... |
OMIM:619272 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Respiratory distress, Neonatal respiratory distress, Crackles, Asthma, Tachypnea, Wheezing, Hypox... |
OMIM:610978 |
Hsd10 Disease, Infantile Type |
|
Diffuse cerebral atrophy, Cyanosis, Microcephaly, Abnormal basal ganglia morphology, Cerebral atr... |
ORPHA:391428 |
Familial Nasal Acilia |
|
Respiratory distress, Dyspnea, Bronchiectasis, Chronic rhinitis, Chronic sinusitis |
ORPHA:922 |
Sepsis In Premature Infants |
|
Cyanosis, Small for gestational age, Abnormal mucociliary clearance, Dyspnea, Jaundice, Nasal fla... |
ORPHA:90051 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Respiratory distress, Dyspnea, Cough, Microcephaly |
ORPHA:86812 |
Congenital Disorder Of Glycosylation, Type Ie |
|
Respiratory distress, Failure to thrive, Secondary microcephaly, Telangiectasia |
OMIM:608799 |
Pulmonary Arteriovenous Malformation |
|
Cyanosis, Epistaxis, Dyspnea, Telangiectasia, Hypoxemia, Ischemic stroke, Pleural empyema, Cough,... |
ORPHA:2038 |
Folinic Acid-Responsive Seizures |
|
Frontotemporal cerebral atrophy, Apnea, Respiratory distress |
ORPHA:79097 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Respiratory distress, Agenesis of corpus callosum, Holoprosencephaly |
ORPHA:990 |
Juvenile Polyposis Syndrome |
|
Small intestinal polyposis, Juvenile gastrointestinal polyposis, Cerebral arteriovenous malformat... |
ORPHA:2929 |
Restrictive Dermopathy 2 |
|
Respiratory distress, Cyanosis |
OMIM:619793 |
Gjc2-Related Late-Onset Primary Lymphedema |
|
Genital edema, Predominantly lower limb lymphedema, Edema of the dorsum of hands, Facial edema, V... |
ORPHA:568051 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Respiratory distress, Small for gestational age |
OMIM:616733 |
Triosephosphate Isomerase Deficiency |
|
Respiratory distress, Death in infancy, Respiratory insufficiency due to muscle weakness, Jaundic... |
OMIM:615512 |
Auriculocondylar Syndrome 2A |
|
Respiratory distress, Apnea |
OMIM:614669 |
Fg Syndrome Type 1 |
|
Dental crowding, Hypospadias, Abnormal large intestine morphology, Optic nerve hypoplasia, Malrot... |
ORPHA:93932 |
Slc35A1-Cdg |
|
Hypoxemia, Pneumonia, Respiratory distress, Subcutaneous hemorrhage |
ORPHA:238459 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Central apnea, Respiratory distress, Megalencephaly, Hydrocephalus, Respiratory failure, Neonatal... |
OMIM:616482 |
Myopathy And Diabetes Mellitus |
|
Respiratory distress |
ORPHA:2596 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Respiratory distress, Umbilical hernia, Large for gestational age, Prolonged neonatal jaundice |
ORPHA:226313 |
Congenital Heart Block |
|
Pleural effusion, Cyanosis, Crackles |
ORPHA:60041 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory distress, Death in infancy, Tachypnea, Respiratory insufficiency, Respiratory failure |
OMIM:614299 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Cyanosis, Apnea, Cerebral atrophy |
OMIM:261680 |
Pulmonary Capillary Hemangiomatosis |
|
Cyanosis, Dyspnea, Hemothorax, Hypoxemia, Elevated pulmonary artery pressure, Decreased DLCO, Ple... |
ORPHA:199241 |
Non-Acquired Panhypopituitarism |
|
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Ant... |
ORPHA:90695 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Cyanosis, Small for gestational age, Tachypnea, Hypoxemia, Failure to thrive |
ORPHA:860 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Respiratory distress |
ORPHA:240085 |
Mitochondrial Phosphate Carrier Deficiency |
|
Cyanosis, Respiratory insufficiency |
OMIM:610773 |
X-Linked Centronuclear Myopathy |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia |
ORPHA:596 |
Tricuspid Atresia |
|
Cyanosis |
ORPHA:1209 |
Tick-Borne Encephalitis |
|
Elevated hepatic transaminase, Skeletal muscle atrophy, Facial palsy, Abnormal glossopharyngeal n... |
ORPHA:297 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v... |
OMIM:187300 |
Congenital Laryngeal Web |
|
Respiratory distress, Stridor |
ORPHA:2374 |
Congenital Diaphragmatic Hernia |
|
Hypoxemia, Respiratory distress |
ORPHA:2140 |
Pulmonary Alveolar Microlithiasis |
|
Cyanosis, Increased pulmonary vascular resistance, Nonproductive cough, Dyspnea, Tachypnea, Pneum... |
ORPHA:60025 |
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Respiratory distress, Failure to thrive, Hypoplasia of the corpus callosum, Microcephaly |
ORPHA:544503 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Hypokalemia, Hypochloremia |
OMIM:602522 |
Complete Atrioventricular Septal Defect |
|
Cyanosis, Intercostal retractions, Crackles, Wheezing, Tachypnea, Recurrent pneumonia, Elevated p... |
ORPHA:1329 |
Aicardi-Goutieres Syndrome 1 |
|
Intracerebral periventricular calcifications, Microcephaly, Basal ganglia calcification, Erythema... |
OMIM:225750 |
Non-Functioning Pituitary Adenoma |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:91349 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Respiratory distress, Abnormal periventricular white matter morphology, Respiratory insufficiency |
ORPHA:1145 |
Pituitary Adenoma 1, Multiple Types |
|
Elevated circulating growth hormone concentration, Pituitary adenoma, Increased circulating insul... |
OMIM:102200 |
Marcus-Gunn Syndrome |
|
Cleft lip, Abnormal fifth cranial nerve morphology, Cleft palate |
ORPHA:91412 |
Bartter Syndrome, Type 1, Antenatal |
|
Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Hypochloremia, Hypokalemia, In... |
OMIM:601678 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Respiratory distress, Probst bundles, Hydrocephalus, Lateral ventricle dilatation, Agenesis of co... |
OMIM:612863 |
Neurogenic Arthrogryposis Multiplex Congenita |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness |
ORPHA:1143 |
Thyroid Lymphoma |
|
Respiratory distress, Dyspnea, Stridor, Upper airway obstruction |
ORPHA:97285 |
Lethal Recessive Chondrodysplasia |
|
Respiratory distress |
ORPHA:1423 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Cerebra... |
OMIM:610655 |
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Respiratory distress, Cerebral white matter atrophy, Abnormal periventricular white matter morpho... |
ORPHA:329178 |
Buerger Disease |
|
Acrocyanosis |
ORPHA:36258 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Leukoencephalopathy, Resp... |
OMIM:220110 |
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Juvenile gastrointestinal polyposis, Epistaxis, Cerebral arteriovenous malformation, Pulmonary ar... |
OMIM:175050 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6 |
|
Respiratory distress, Paradoxical respiration |
OMIM:620011 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress, Failure to thrive, Microcephaly |
ORPHA:927 |
Congenital Myasthenic Syndrome |
|
Cyanosis, Sudden episodic apnea, Intermittent episodes of respiratory insufficiency due to muscle... |
ORPHA:590 |
Presynaptic Congenital Myasthenic Syndromes |
|
Cyanosis, Sudden episodic apnea, Intermittent episodes of respiratory insufficiency due to muscle... |
ORPHA:98914 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Respiratory distress, Failure to thrive |
ORPHA:79312 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Respiratory in... |
OMIM:211530 |
Congenital Tricuspid Valve Dysplasia |
|
Respiratory failure requiring assisted ventilation, Cyanosis, Small for gestational age, Tachypne... |
ORPHA:555874 |
46,Xy Sex Reversal 7 |
|
Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Sex reversal, Gonadobla... |
OMIM:233420 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Respiratory distress |
ORPHA:240103 |
Igg4-Related Ophthalmic Disease |
|
Palpebral edema, Cholangitis, Abnormal fifth cranial nerve morphology, Abnormality of infra-orbit... |
ORPHA:449563 |
Nipah Virus Disease |
|
Respiratory distress, Cough |
ORPHA:99825 |
Myasthenic Syndrome, Congenital, 21, Presynaptic |
|
Hyperintensity of cerebral white matter on MRI, Cyanosis, Apnea, Respiratory insufficiency |
OMIM:617239 |
Panhypophysitis |
|
Decreased circulating cortisol level, Orthostatic hypotension, Reduced circulating prolactin conc... |
ORPHA:95513 |
Phace Syndrome |
|
Optic nerve hypoplasia, Cerebral arteriovenous malformation, Visceral angiomatosis, Coarctation o... |
ORPHA:42775 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Severe failure to thrive, Cyanosis, Microcephaly |
ORPHA:3304 |
Ciliary Dyskinesia, Primary, 2 |
|
Respiratory distress, Sinusitis, Bronchiectasis, Immotile cilia, Ciliary dyskinesia |
OMIM:606763 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Death in infancy, Cyanosis, Apnea, Microcephaly, Focal T2 hypointense basal ganglia lesion, Leuko... |
OMIM:252010 |
Holocarboxylase Synthetase Deficiency |
|
Respiratory distress, Tachypnea, Weight loss |
ORPHA:79242 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Cyanosis, Apnea, Thin corpus callosum, Microcephaly |
OMIM:619580 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Gastroin... |
OMIM:600376 |
Odontochondrodysplasia |
|
Respiratory distress, Death in infancy |
ORPHA:166272 |
Brain-Lung-Thyroid Syndrome |
|
Respiratory distress, Neonatal respiratory distress, Microcephaly, Asthma, Recurrent pneumonia, P... |
ORPHA:209905 |
Mercury Poisoning |
|
Respiratory distress, Dyspnea, Abnormal cerebral white matter morphology, Respiratory failure, In... |
ORPHA:330021 |
Multiple Endocrine Neoplasia, Type I |
|
Subcutaneous lipoma, Pancreatic islet cell adenoma, Peptic ulcer, Elevated circulating growth hor... |
OMIM:131100 |
Peripheral Motor Neuropathy-Dysautonomia Syndrome |
|
Acrocyanosis |
ORPHA:2400 |
Pituitary Carcinoma |
|
Enlarged pituitary gland, Elevated circulating growth hormone concentration, Pituitary corticotro... |
ORPHA:300385 |
Clapo Syndrome |
|
Lymphedema, Varicose veins, Capillary malformation of the lip, Capillary hemangioma, Ganglioneuro... |
ORPHA:168984 |
Bartter Syndrome Type 4 |
|
Hyponatremia, Hypochloremia, Hypokalemia, Increased circulating renin level, Hypomagnesemia |
ORPHA:89938 |
Rubinstein-Taybi Syndrome 1 |
|
Dental crowding, Premature thelarche, Polyhydramnios, Bilateral cryptorchidism, High, narrow pala... |
OMIM:180849 |
Oculocerebrofacial Syndrome, Kaufman Type |
|
Respiratory distress, Microcephaly, Dyspnea, Respiratory failure, Failure to thrive |
ORPHA:2707 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Death in infancy, Partial agenesis of the corpus callosum, Cyanosis, Microcephaly |
OMIM:617478 |
Atrial Septal Defect, Ostium Primum Type |
|
Cyanosis, Dyspnea, Tachypnea, Abnormal respiratory system physiology, Exertional dyspnea, Pulmona... |
ORPHA:99106 |
Histiocytoid Cardiomyopathy |
|
Cyanosis, Hydrocephalus, Tachypnea, Cough, Failure to thrive, Agenesis of corpus callosum |
ORPHA:137675 |
Angioosteohypotrophic Syndrome |
|
Venous malformation, Prominent superficial veins, Telangiectasia of the skin, Edema |
ORPHA:75508 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Small for gestational age, Pneumonia, Episodic tachypnea, Overweight, Jaund... |
ORPHA:26793 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Cyanosis, Sudden episodic apnea, Respiratory insufficiency, Microcephaly |
ORPHA:159 |
Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Enlarged pituitary gland, Hypopituitarism, Hypogonadotropic hypogonadism, Diabetes insipidus, Pit... |
ORPHA:91350 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Alopecia, Brittle hair, Pulmonary artery stenosis, Abnormality of the anterior pituitary, Coarse ... |
ORPHA:75389 |
Adenohypophysitis |
|
Decreased circulating cortisol level, Orthostatic hypotension, Reduced circulating prolactin conc... |
ORPHA:95512 |
Infantile Krabbe Disease |
|
Respiratory distress, Diffuse cerebral atrophy, Hypointensity of cerebral white matter on MRI, Ca... |
ORPHA:206436 |
Meige Disease |
|
Predominantly lower limb lymphedema, Edema of the dorsum of hands, Facial edema, Lymphedema, Peri... |
ORPHA:90186 |
Gangliocytoma |
|
Pituitary null cell adenoma, Elevated circulating growth hormone concentration, Abnormal pituitar... |
ORPHA:251937 |
Myotubular Myopathy With Abnormal Genital Development |
|
Respiratory distress, Death in infancy, Neonatal death |
OMIM:300219 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:2759 |
Tularemia |
|
Respiratory distress, Pleural effusion, Pneumonia, Cough |
ORPHA:3392 |
Gaucher Disease, Perinatal Lethal |
|
Respiratory distress, Apnea, Microcephaly, Decreased body weight, Neonatal death, Petechiae, Purpura |
OMIM:608013 |
Duplication Of The Pituitary Gland |
|
Encephalocele, Polyhydramnios, Supernumerary tooth, Abnormal pituitary gland morphology, Abnormal... |
ORPHA:314621 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Respiratory distress, Failure to thrive, Generalized abnormality of skin, Respiratory insufficiency |
ORPHA:367 |
Double Outlet Right Ventricle |
|
Failure to thrive, Cyanosis, Tachypnea |
ORPHA:3426 |
Livedoid Vasculopathy |
|
Diabetes mellitus, Telangiectasia of the skin, Abnormal capillary morphology, Abnormality of the ... |
ORPHA:542643 |
Carnitine Deficiency, Systemic Primary |
|
Respiratory distress, Failure to thrive |
OMIM:212140 |
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
Skeletal muscle atrophy, Alopecia, Hypogonadotropic hypogonadism, Limb joint contracture, Carious... |
OMIM:612079 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Respiratory distress, Abnormal globus pallidus morphology, Failure to thrive |
OMIM:251000 |
Isolated Right Ventricular Hypoplasia |
|
Hypoxemia, Dyspnea, Cyanosis |
ORPHA:439 |
Bartter Syndrome, Type 2, Antenatal |
|
Hyperchloriduria, Increased serum prostaglandin E2, Hypochloremia, Hypokalemia, Increased circula... |
OMIM:241200 |
Craniofaciofrontodigital Syndrome |
|
Respiratory distress, Prominent superficial veins, Large for gestational age, Dyspnea, Hyperinten... |
ORPHA:363705 |
Microlissencephaly-Micromelia Syndrome |
|
Respiratory distress, Failure to thrive, Lissencephaly, Secondary microcephaly |
ORPHA:50810 |
Renal Nutcracker Syndrome |
|
Tachycardia, Orthostatic hypotension, Vulval varicose vein, Varicose veins, Syncope, Abnormal aut... |
ORPHA:71273 |
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1 |
|
Vascular granular osmiophilic material deposition, Lacunar stroke, Varicose veins, Stroke, Nonart... |
OMIM:125310 |
Lymphedema-Distichiasis Syndrome |
|
Diabetes mellitus, Predominantly lower limb lymphedema, Cleft upper lip, Patent ductus arteriosus... |
ORPHA:33001 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Respiratory distress, Hypoplasia of the corpus callosum |
OMIM:617102 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Epididymitis |
OMIM:608106 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Jaundice, Pachygyria, Neonatal death |
OMIM:231680 |
Isolated Atp Synthase Deficiency |
|
Respiratory distress, Cerebral cortical atrophy, Microcephaly |
ORPHA:254913 |
Meningioma |
|
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Neoplasm of th... |
ORPHA:2495 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Hypoplastic anterior commissure, Hypoplasia of the corpus callosum, Microcephaly |
OMIM:616975 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Multifocal hyperintensity of cerebral white matter on MRI, Respiratory failure requiring assisted... |
ORPHA:308552 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Respiratory distress, Neonatal respiratory distress, Microcephaly, Tracheomalacia, Agenesis of co... |
OMIM:217980 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Abnormal cardiac ventricular function, Paroxysmal atrial fibrillation, Tricuspid re... |
ORPHA:1677 |
Eosinophilic Fasciitis |
|
Acrocyanosis, Weight loss |
ORPHA:3165 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Patent ductus arteriosus, Peripheral arterial stenosis, Pedal edema, Sinus bradycardia, Varicose ... |
OMIM:126320 |
Lymphatic Malformation 6 |
|
Genital edema, Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Splenomegaly, Polyhydr... |
OMIM:616843 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Respiratory distress, Stridor, Failure to thrive |
OMIM:615595 |
Proteus-Like Syndrome |
|
Thymus hyperplasia, Open bite, Splenomegaly, Abnormality of the parathyroid gland, Venous insuffi... |
ORPHA:2969 |
Waardenburg Syndrome Type 3 |
|
Tracheomalacia, Acrocyanosis, Microcephaly |
ORPHA:896 |
Menkes Disease |
|
Gastrointestinal hemorrhage, Hypopigmentation of hair, Malabsorption, Venous insufficiency, Wooll... |
ORPHA:565 |
Scimitar Syndrome |
|
Left-to-right shunt, Abnormal hemidiaphragm morphology, Anomalous origin of left coronary artery ... |
ORPHA:185 |
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency |
|
Venous insufficiency, Abnormal cerebral vascular morphology, Pulmonary embolism |
ORPHA:745 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Abnormal left ventricular function, Cholecystitis, Internal hemorrhage, Hepa... |
ORPHA:99827 |
Autosomal Dominant Spastic Paraplegia Type 10 |
|
Distal lower limb amyotrophy, Dupuytren contracture, Peripheral axonal neuropathy, Upper limb amy... |
ORPHA:100991 |
Hypoglossia With Situs Inversus |
|
Respiratory distress, Upper airway obstruction |
OMIM:612776 |
Congenital Fibrinogen Deficiency |
|
Cyanosis, Bruising susceptibility, Subcutaneous hemorrhage |
ORPHA:335 |
Esophageal Atresia |
|
Respiratory distress, Cyanosis, Small for gestational age, Failure to thrive in infancy, Episodic... |
ORPHA:1199 |
X-Linked Acrogigantism |
|
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Elevated circulating growt... |
ORPHA:300373 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Respiratory distress |
ORPHA:289916 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Respiratory distress, Cavum septum pellucidum, Hypoplasia of the corpus callosum |
OMIM:619383 |
Neuromuscular Oculoauditory Syndrome |
|
Respiratory distress, Aspiration, Agenesis of corpus callosum |
OMIM:618733 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Axonal degeneration, Abnormal sensory nerve conduction velocity, Camptodactyly, Abnormal peripher... |
ORPHA:88628 |
Craniopharyngioma |
|
Enlarged pituitary gland, Papilledema, Hypogonadotropic hypogonadism, Neoplasm of the anterior pi... |
ORPHA:54595 |
Primary Dystonia, Dyt4 Type |
|
Respiratory distress, Eunuchoid habitus |
ORPHA:98805 |
Thymic Carcinoma |
|
Neoplasm of the thymus, Abnormal vena cava morphology, Palpebral edema, Edema |
ORPHA:99868 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Sinusitis, Cutis marmorata, Asthma, Respiratory insufficiency, Weight loss, Urticaria, Cough, Acr... |
ORPHA:183 |
Myotonic Dystrophy 1 |
|
Respiratory distress, Cerebral atrophy |
OMIM:160900 |
Meckel Syndrome 14 |
|
Occipital encephalocele, Cyanosis, Pneumothorax, Cardiorespiratory arrest, Holoprosencephaly |
OMIM:619879 |
Hereditary Bullous Dystrophy, Macular Type |
|
Acrocyanosis, Pneumonia, Microcephaly |
ORPHA:1867 |
Oculopharyngodistal Myopathy 1 |
|
Respiratory distress, Hypercapnia, Reduced forced vital capacity, Respiratory insufficiency due t... |
OMIM:164310 |
Dravet Syndrome |
|
Cyanotic episode |
ORPHA:33069 |
Sheehan Syndrome |
|
Decreased circulating cortisol level, Orthostatic hypotension, Reduced circulating prolactin conc... |
ORPHA:91355 |
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency |
|
Venous insufficiency, Abnormal cerebral vascular morphology, Pulmonary embolism |
ORPHA:743 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Respiratory distress, Small for gestational age, Recurrent pneumonia, Failure to thrive, Progress... |
OMIM:607143 |
Atrial Septal Defect, Ostium Secundum Type |
|
Orthopnea, Cyanosis, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance,... |
ORPHA:99103 |
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cleft lip, Cryptorchidism, High palate, Small pituitary gland, Del... |
OMIM:612702 |
Odontochondrodysplasia 1 |
|
Respiratory distress, Death in infancy |
OMIM:184260 |
Nasolacrimal Duct Cyst |
|
Intercostal retractions, Episodic respiratory distress, Stridor, Paroxysmal dyspnea, Abnormal bre... |
ORPHA:141083 |
22Q11.2 Deletion Syndrome |
|
Polyhydramnios, Abnormal aortic arch morphology, Short philtrum, Abnormality of the uterus, Hypop... |
ORPHA:567 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Decreased response to growth hormone stimulation test, Joint contracture of the 5th finger, Micro... |
OMIM:602782 |
Oromandibular Dystonia |
|
Respiratory distress, Weight loss |
ORPHA:93958 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Alopecia, Long uvula, Diabetes mellitus, Carotid artery stenosis, Pericardial effusion, Cryptorch... |
ORPHA:536532 |
Ethylene Glycol Poisoning |
|
Cyanosis, Tachypnea, Episodic respiratory distress, Abnormal pattern of respiration, Cerebral edema |
ORPHA:31826 |
Muscular Dystrophy, Congenital, With Or Without Seizures |
|
Respiratory distress, Respiratory failure |
OMIM:620166 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Apneic episodes... |
ORPHA:348 |
Prader-Willi Syndrome |
|
Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test... |
ORPHA:739 |
Chitayat Syndrome |
|
Respiratory distress, Tracheomalacia |
OMIM:617180 |
Lymphedema-Distichiasis Syndrome |
|
Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Cleft upper lip, Lymphedema, Yell... |
OMIM:153400 |
H Syndrome |
|
Abnormal eyebrow morphology, Alopecia, Diabetes mellitus, Malabsorption, Cleft upper lip, Abnorma... |
ORPHA:168569 |
Neurotrophic Keratopathy |
|
Corneal stromal edema, Diabetes mellitus, Abnormal fifth cranial nerve morphology |
ORPHA:137596 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Palmoplantar cutis laxa, Hydrocephalus, Agenesis of corpus callosum, Respiratory distress |
OMIM:123790 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Aspiration pneumonia |
ORPHA:314655 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Polyhydramnios, Asplenia, Neonatal death, Hypospadias, Nonimmune hydrops fetalis, Esophageal atre... |
OMIM:265380 |
Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... |
OMIM:617300 |
Goldberg-Shprintzen Megacolon Syndrome |
|
Bifid scrotum, Sparse scalp hair, Hypospadias, Aganglionic megacolon, Sparse eyebrow, Cleft palate |
ORPHA:66629 |
X-Linked Intellectual Disability, Nascimento Type |
|
Abnormal hair whorl, Deep philtrum, Synophrys, Downturned corners of mouth, Micropenis, Generaliz... |
ORPHA:163956 |
Foix-Alajouanine Syndrome |
|
Distal lower limb amyotrophy, Myelopathy, Cervical myelopathy, Arteriovenous fistula, Distal lowe... |
ORPHA:79093 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Respiratory distress, Pulmonary arterial hypertension, Hypoplasia of the corpus callosum, Microce... |
ORPHA:2519 |
Atrial Septal Defect, Coronary Sinus Type |
|
Cyanosis, Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Pulmonary arterial hyperte... |
ORPHA:99104 |
Erythrocytosis, Familial, 2 |
|
Cerebral hemorrhage, Varicose veins, Stroke, Hypotension, Pulmonary arterial hypertension, Hemang... |
OMIM:263400 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Respiratory distress, Microcephaly, Pulmonary embolism, Jaundice, Hydrocephalus, Leukoencephalopa... |
ORPHA:79282 |
Episodic Ataxia Type 1 |
|
Respiratory distress |
ORPHA:37612 |
Tarp Syndrome |
|
Failure to thrive, Cyanosis, Apnea, Abnormal corpus callosum morphology |
ORPHA:2886 |
Achondroplasia |
|
Respiratory distress, Death in infancy, Megalencephaly, Hydrocephalus, Upper airway obstruction |
OMIM:100800 |
Prolactinoma |
|
Abnormal hair quantity, Hypogonadotropic hypogonadism, Female hypogonadism, Elevated circulating ... |
ORPHA:2965 |
Synaptic Congenital Myasthenic Syndromes |
|
Respiratory distress, Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency, ... |
ORPHA:98915 |
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Cryptorchidism, Cleft palate, Small pituitary gland, Micropenis, Decreased testicular size |
OMIM:614880 |
Criss-Cross Heart |
|
Cyanosis, Respiratory insufficiency |
ORPHA:1461 |
Moebius Syndrome |
|
Respiratory distress |
OMIM:157900 |
Von Willebrand Disease |
|
Venous insufficiency |
ORPHA:903 |
Tsh-Secreting Pituitary Adenoma |
|
Elevated circulating thyroid-stimulating hormone concentration, Male hypogonadism, Hyperthyroidis... |
ORPHA:91347 |
Xq21 Microdeletion Syndrome |
|
Decreased response to growth hormone stimulation test, Adrenocorticotropic hormone deficiency, Pi... |
ORPHA:1435 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory distress, Respiratory failure |
OMIM:617895 |
Japanese Encephalitis |
|
Respiratory distress, Abnormal substantia nigra morphology, Abnormal caudate nucleus morphology, ... |
ORPHA:79139 |
Mucopolysaccharidosis-Plus Syndrome |
|
Respiratory distress, Cerebral calcification, Microcephaly, Recurrent pneumonia, Death in childhood |
OMIM:617303 |
Methemoglobinemia And Ambiguous Genitalia |
|
Cyanosis |
OMIM:250790 |
Kniest Dysplasia |
|
Respiratory distress, Umbilical hernia, Tracheomalacia |
OMIM:156550 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Hepatomegaly, Prominent superficial veins, Perianal abscess, Splenomegaly, Cryptorchidism, Patent... |
OMIM:612541 |
Diaphanospondylodysostosis |
|
Respiratory distress, Polymicrogyria, Tracheomalacia, Respiratory insufficiency |
OMIM:608022 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Small scrotum, External genital hypoplasia, Xerostomia, Downturned corners of mouth, Clitoral hyp... |
ORPHA:398079 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Respiratory distress, Cyanosis, Apnea, Hydrocephalus, Pleural effusion |
OMIM:261740 |
Hypermobile Ehlers-Danlos Syndrome |
|
Arterial dissection, Abnormality of the dentition, Malabsorption, Decreased nerve conduction velo... |
ORPHA:285 |
Tetanus |
|
Respiratory distress, Tachypnea |
ORPHA:3299 |
Truncus Arteriosus |
|
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... |
ORPHA:3384 |
Inhalational Anthrax |
|
Respiratory distress, Dyspnea |
ORPHA:247257 |
Rodrigues Blindness |
|
Ectodermal dysplasia, Nasal flaring |
OMIM:268320 |
Igg4-Related Thyroid Disease |
|
Nodular goiter, Pancreatic fibrosis, Retroperitoneal fibrosis, Thyrotoxicosis with diffuse goiter... |
ORPHA:64744 |
Unilateral Polymicrogyria |
|
Cyanosis, Apnea, Epistaxis, Microcephaly, Cortical dysplasia, Perisylvian polymicrogyria |
ORPHA:268943 |
Trichorhinophalangeal Syndrome, Type Ii |
|
Chronic gastritis, Myocardial infarction, Cerebral arteriovenous malformation, Bilateral cryptorc... |
OMIM:150230 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Sparse facial hair, Decreased serum estradiol, Aplasia of the ovary, Aplasia/hypoplasia of the ut... |
ORPHA:2232 |
Microphthalmia With Limb Anomalies |
|
Abnormal eyebrow morphology, Macrodontia, Cleft upper lip, Venous insufficiency, Cryptorchidism, ... |
ORPHA:1106 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Respiratory distress, Stillbirth |
OMIM:151210 |
Hereditary Angioedema Type 1 |
|
Respiratory distress, Dyspnea, Urticaria, Dermatographic urticaria, Inspiratory stridor |
ORPHA:100050 |
Poems Syndrome |
|
Respiratory insufficiency due to muscle weakness, Weight loss, Restrictive ventilatory defect, Pu... |
ORPHA:2905 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hyponatremia, Hyperkalemia, Hypochloremia |
ORPHA:90794 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Dental crowding, Decreased response to growth hormone stimulation test, Fetal ascites, Ascending ... |
OMIM:619503 |
Cryptococcosis |
|
Respiratory distress, Pneumonia, Dyspnea, Hydrocephalus, Cough, Pleural effusion, Cerebral cortic... |
ORPHA:1546 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Urticaria, Erythema, Acrocyanosis, Purpura |
ORPHA:343 |
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Splenomegaly, Spinal dysraphism, Lipoma, Nephroblastoma, Venous malformation |
OMIM:612918 |
Double Outlet Left Ventricle |
|
Failure to thrive, Cyanosis, Tachypnea |
ORPHA:3427 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Elevated hepatic transaminase, Multicystic kidney dysplasia, Absent vas deferens, Hypospadias, Di... |
ORPHA:93111 |
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome |
|
Aortic dissection, Dental crowding, Vascular dilatation, Varicose veins, Thin vermilion border, S... |
OMIM:618343 |
Absence Of The Pulmonary Artery |
|
Orthopnea, Cyanosis, Dyspnea, Nonproductive cough, Recurrent pneumonia, Bronchiectasis, Hypocapni... |
ORPHA:980 |
Thoracic Outlet Syndrome |
|
Varicose veins, Edema |
ORPHA:97330 |
Fucosidosis |
|
Failure to thrive, Acrocyanosis, Vascular skin abnormality |
ORPHA:349 |
Loeys-Dietz Syndrome 6 |
|
Carotid artery dissection, Thoracic aortic aneurysm, Varicose veins, Dilatation of the cerebral a... |
OMIM:619656 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Absent eyebrow, Alopecia, Abnormality of the endocrine system, Cryptorchidism, Absent eyelashes, ... |
ORPHA:166035 |
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Respiratory distress, Death in infancy, Respiratory failure, Chylothorax, Death in childhood |
OMIM:620278 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Respiratory distress, Death in infancy, Jaundice, Failure to thrive |
OMIM:617156 |
Biotinidase Deficiency |
|
Respiratory distress, Myelopathy, Apnea, Hyperventilation |
ORPHA:79241 |
Pachyonychia Congenita |
|
Respiratory distress, Failure to thrive |
ORPHA:2309 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Abnormal venous morphology, Telangiectasia of the skin, Abnormal cerebral vascular morphology, Hy... |
ORPHA:276280 |
3-Methylglutaconic Aciduria, Type Viib |
|
Respiratory distress, Recurrent pneumonia, Cerebral atrophy, Microcephaly |
OMIM:616271 |
Lujo Hemorrhagic Fever |
|
Respiratory distress, Crackles, Nonproductive cough, Rhinitis, Ecchymosis, Cerebral edema, Purpura |
ORPHA:319213 |
Pitt-Hopkins Syndrome |
|
Failure to thrive, Microcephaly, Aplasia/Hypoplasia of the corpus callosum, Small cerebral cortex... |
ORPHA:2896 |
Spondyloepiphyseal Dysplasia Congenita |
|
Respiratory distress, Cervical myelopathy, Restrictive ventilatory defect |
OMIM:183900 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Failure to thrive, Focal hypointensity of cerebral white matter on MRI, Hypoplastic anterior comm... |
ORPHA:261552 |
Brucellosis |
|
Hepatomegaly, Pericarditis, Liver abscess, Transient ischemic attack, Abnormality of the peripher... |
ORPHA:1304 |
Mogs-Cdg |
|
Respiratory distress, Hypoventilation, Apnea, Hypoplasia of the corpus callosum |
ORPHA:79330 |
Liposarcoma |
|
Varicose veins, Sarcoma |
ORPHA:69078 |
Prader-Willi Syndrome Due To Translocation |
|
Respiratory distress, Microcephaly, Obesity, Lateral ventricle dilatation, Cerebral cortical atrophy |
ORPHA:177907 |
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Optic disc pallor, Nasofrontal encephalocele, Small pituitary gland |
OMIM:614195 |
Acquired Purpura Fulminans |
|
Acrocyanosis, Macular purpura |
ORPHA:49566 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Abnormal basal ganglia MRI signal intensity, Respiratory distress, Apnea, Microcephaly, Leukoence... |
ORPHA:17 |
Congenital Tracheal Stenosis |
|
Respiratory distress, Cyanosis, Neonatal asphyxia, Wheezing, Dyspnea, Upper airway obstruction |
ORPHA:141127 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Respiratory distress, Jaundice, Prolonged neonatal jaundice |
OMIM:274150 |
Adnp Syndrome |
|
Respiratory distress, Microcephaly, Cerebral atrophy, Aspiration, Truncal obesity, Hypoplasia of ... |
ORPHA:404448 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Respiratory distress, Umbilical hernia, Hydrocephalus |
ORPHA:1555 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Respiratory distress, Failure to thrive in infancy |
OMIM:612852 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Respiratory distress, Absent septum pellucidum, Microcephaly, Dyspnea, Hydrocephalus, Erythema, R... |
ORPHA:2556 |
Pfeiffer Syndrome Type 2 |
|
Respiratory distress, Hydrocephalus, Aqueductal stenosis, Tracheomalacia |
ORPHA:93259 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Respiratory distress, Progressive microcephaly, Microcephaly |
OMIM:610536 |
Shwachman-Diamond Syndrome 1 |
|
Respiratory distress, Neonatal respiratory distress, Failure to thrive, Small for gestational age |
OMIM:260400 |
Methylmalonic Aciduria, Cblb Type |
|
Respiratory distress, Failure to thrive |
OMIM:251110 |
Ramos-Arroyo Syndrome |
|
Respiratory distress, Severe failure to thrive, Decreased body weight, Primary microcephaly |
ORPHA:1051 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Respiratory distress, Pneumothorax, Cerebral atrophy |
OMIM:620306 |
Heterotaxy, Visceral, 1, X-Linked |
|
Respiratory distress, Cyanosis, Aqueductal stenosis, Myelomeningocele, Hydrocephalus, Failure to ... |
OMIM:306955 |
Farber Disease |
|
Respiratory distress, Failure to thrive, Respiratory insufficiency |
ORPHA:333 |
Radio-Renal Syndrome |
|
Respiratory distress, Dyspnea, Respiratory failure, Chylothorax, Pleural effusion |
ORPHA:3015 |
Vascular Ehlers-Danlos Syndrome |
|
High, narrow palate, Abnormality of the gingiva, Gingivitis, Periodontitis, Uterine rupture, Micr... |
ORPHA:286 |
Idiopathic Hypereosinophilic Syndrome |
|
Respiratory distress, Cutis marmorata, Pulmonary embolism, Dyspnea, Angioedema, Asthma, Urticaria... |
ORPHA:3260 |
Goodpasture Syndrome |
|
Cyanosis, Crackles, Increased DLCO, Tachypnea, Weight loss, Restrictive ventilatory defect, Cough... |
OMIM:233450 |
Alternating Hemiplegia Of Childhood |
|
Respiratory distress, Apnea, Aspiration, Failure to thrive, Flushing |
ORPHA:2131 |
Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs, And Partial/Generalized Overgrowth |
|
Varicose veins, Capillary malformation of the lip, Venous malformation, Lymphedema |
OMIM:613089 |
Holoprosencephaly 9 |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Cleft upper... |
OMIM:610829 |
Q Fever |
|
Respiratory distress, Pneumonia, Weight loss, Cough, Pleural effusion, Purpura |
ORPHA:781 |
Arterial Tortuosity Syndrome |
|
Respiratory distress, Telangiectasia of the skin, Prematurely aged appearance, Dyspnea, Cardiores... |
ORPHA:3342 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Pulmonary arterial hypertension, Failure to thrive, Cyanosis, Exertional dyspnea |
ORPHA:99050 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Respiratory distress, Jaundice, Diffuse leukoencephalopathy, Prolonged neonatal jaundice, Failure... |
OMIM:256810 |
Spinal muscular atrophy, type I, with congenital bone fractures |
|
Respiratory distress |
OMIM:271225 |
Toxic Epidermal Necrolysis |
|
Respiratory distress, Erythema, Weight loss, Restrictive ventilatory defect, Cough |
ORPHA:537 |
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Respiratory distress |
OMIM:606164 |
Lymphatic Filariasis |
|
Predominantly lower limb lymphedema, Lymphedema, Orchitis, Epididymitis, Vaginal hydrocele, Hydro... |
ORPHA:2035 |
Bacterial Toxic-Shock Syndrome |
|
Respiratory distress, Sinusitis, Pneumonia, Tachypnea, Ecchymosis |
ORPHA:36234 |
Myasthenia Gravis |
|
Dyspnea, Acrocyanosis |
ORPHA:589 |
Osteogenesis Imperfecta, Type X |
|
Respiratory distress, Recurrent pneumonia, Chronic lung disease, Death in childhood |
OMIM:613848 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Respiratory distress, Failure to thrive in infancy, Pneumonia, Cachexia, Urticaria, Interstitial ... |
ORPHA:37042 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Chronic gastritis, Viral hepatitis, Liver abscess, Diabetes mellitus, Cholangitis, Celiac disease... |
ORPHA:183675 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Respiratory distress, Microcephaly |
ORPHA:438216 |
Loeys-Dietz Syndrome 3 |
|
Tortuous cerebral arteries, High palate, Abdominal aortic aneurysm, Bifid uvula, Eosinophilic inf... |
OMIM:613795 |
Hemorrhagic Fever-Renal Syndrome |
|
Respiratory distress, Pneumonia, Epistaxis, Dyspnea, Respiratory failure, Cough, Ecchymosis, Pleu... |
ORPHA:340 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Respiratory distress, Abnormal cortical gyration, Hypoplasia of the corpus callosum |
OMIM:300968 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Respiratory distress, Cerebral calcification, Hydrocephalus, Stridor, Pulmonary arterial hyperten... |
ORPHA:505248 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Respiratory distress, Repeated pneumothoraces, Hydrocephalus, Respiratory insufficiency, Restrict... |
ORPHA:536467 |
Congenital Enterovirus Infection |
|
Respiratory distress, Pleural effusion |
ORPHA:292 |
Meier-Gorlin Syndrome 1 |
|
Respiratory distress, Death in infancy, Small for gestational age, Microcephaly, Emphysema, Failu... |
OMIM:224690 |
Methylmalonic Aciduria, Cbla Type |
|
Respiratory distress, Failure to thrive |
OMIM:251100 |
Pituitary Dermoid And Epidermoid Cysts |
|
Enlarged pituitary gland, Neoplasm of the anterior pituitary, Oligozoospermia, Hypogonadism, Hype... |
ORPHA:91351 |
Mgat2-Cdg |
|
Respiratory distress, Failure to thrive, Progressive microcephaly |
ORPHA:79329 |
Nocardiosis |
|
Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Pneumothorax, We... |
ORPHA:31204 |
Pfeiffer Syndrome Type 3 |
|
Respiratory distress, Aqueductal stenosis, Tracheomalacia |
ORPHA:93260 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Apnea, Dyspnea, Episodic respiratory distress, Focal T2 hyperintense basal ganglia lesion, Failur... |
ORPHA:255210 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Camptodactyly of finger, Sp... |
OMIM:256040 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Cyanosis |
ORPHA:2326 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Spontaneous, recurrent epistaxis, Papilledema, Abnormality of the spleen, Splenomegaly, Esophagea... |
ORPHA:2072 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory distress, Orthopnea, Respiratory insufficiency due to muscle weakness, Respiratory in... |
ORPHA:365 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Decreased response to growth hormone stimulation test, Enteroviral hepatitis, Epididymitis, Delay... |
OMIM:307200 |
Campomelic Dysplasia |
|
Respiratory distress, Neonatal respiratory distress, Apnea, Spina bifida, Hydrocephalus, Spinal d... |
OMIM:114290 |
Hyperparathyroidism, Transient Neonatal |
|
Respiratory distress, Umbilical hernia, Communicating hydrocephalus |
OMIM:618188 |
Aortic Arch Interruption |
|
Respiratory distress, Cyanosis, Tachypnea, Exertional dyspnea |
ORPHA:2299 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Respiratory distress, Dyspnea |
OMIM:115197 |
Cocaine Intoxication |
|
Respiratory distress, Wheezing, Tachypnea, Pneumothorax, Ischemic stroke, Cough, Hyperventilation |
ORPHA:90068 |
Gitelman Syndrome |
|
Maternal diabetes, Prominent U wave, Abnormal T-wave, Hashimoto thyroiditis, Raynaud phenomenon, ... |
ORPHA:358 |
Congenital Myopathy 22B, Severe Fetal |
|
Respiratory distress, Pleural effusion, Leukoencephalopathy |
OMIM:620369 |
Familial Cerebral Cavernous Malformation |
|
Cerebral hemorrhage, Venous malformation, Neuroma, Choroidal hemangioma, Hemangioma, Meningioma |
ORPHA:221061 |
Ear-Patella-Short Stature Syndrome |
|
Respiratory distress, Microcephaly, Dyspnea, Respiratory failure, Failure to thrive |
ORPHA:2554 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hypoventilation, Cyanosis, Central hypoventilation, Asthma, Obesity, Cardiorespiratory arrest |
ORPHA:293987 |
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
|
Cryptorchidism, Torticollis, Varicose veins, Oligozoospermia |
OMIM:314300 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Respiratory distress, Pneumonia, Dyspnea, Pneumothorax, Stridor, Respiratory failure, Failure to ... |
ORPHA:79404 |
Behcet Syndrome |
|
Genital ulcers, Raynaud phenomenon, Epididymitis, Oral ulcer, Patchy alopecia |
OMIM:109650 |
Hutchinson-Gilford Progeria Syndrome |
|
Prominent superficial blood vessels, Cyanosis, Upper airway obstruction, Weight loss, Severe fail... |
ORPHA:740 |
Autoimmune Polyendocrinopathy Type 3 |
|
Atrophic gastritis, Alopecia, Hypergonadotropic hypogonadism, Autoimmune hypoparathyroidism, Celi... |
ORPHA:227982 |
Auriculocondylar Syndrome |
|
Respiratory distress |
ORPHA:137888 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Decreased sensitivity to hypoxemia, Acrocyanosis |
OMIM:223900 |
Kasabach-Merritt Syndrome |
|
Respiratory distress, Hypopnea, Petechiae, Purpura |
ORPHA:2330 |
Autoimmune Polyendocrinopathy Type 4 |
|
Atrophic gastritis, Alopecia, Hypergonadotropic hypogonadism, Celiac disease, Xerostomia, Hepatit... |
ORPHA:227990 |
Listeriosis |
|
Respiratory distress, Miscarriage, Pneumonia, Jaundice, Respiratory failure |
ORPHA:533 |
Occipital Horn Syndrome |
|
Thick hair, Hiatus hernia, Venous insufficiency, High, narrow palate, Jaundice, Hepatitis, Choles... |
ORPHA:198 |
Aicardi-Goutières Syndrome |
|
Cerebral calcification, Cutis marmorata, Microcephaly, Porencephalic cyst, Multifocal cerebral wh... |
ORPHA:51 |
Dermatomyositis |
|
Telangiectasia of the skin, Erythema, Respiratory insufficiency, Weight loss, Acrocyanosis, Pulmo... |
ORPHA:221 |
Arteriovenous Malformations Of The Brain |
|
Cerebral arteriovenous malformation |
OMIM:108010 |
Schinzel-Giedion Syndrome |
|
Respiratory distress, Failure to thrive in infancy, Recurrent pneumonia, Neural tube defect, Hypo... |
ORPHA:798 |
Postinfectious Vasculitis |
|
Palpable purpura, Cutis marmorata, Pneumonia, Weight loss, Ischemic stroke, Vasculitis in the ski... |
ORPHA:48435 |
Eisenmenger Syndrome |
|
Respiratory distress, Cyanosis, Increased pulmonary vascular resistance, Wheezing, Hypoxemia, Pul... |
ORPHA:97214 |
Tuberous Sclerosis Complex |
|
Respiratory distress, Cortical dysplasia, Noncommunicating hydrocephalus, Respiratory failure, Ge... |
ORPHA:805 |
Congenital Disorder Of Deglycosylation 1 |
|
Respiratory distress, Decreased body weight, Microcephaly |
OMIM:615273 |
Igg4-Related Kidney Disease |
|
Pericarditis, Retroperitoneal fibrosis, Abnormal mesentery morphology, Abnormality of the anterio... |
ORPHA:449395 |
Cardiac Valvular Dysplasia 2 |
|
Central cyanosis |
OMIM:620067 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Respiratory distress, Rhinitis, Hypohidrotic ectodermal dysplasia, Periorbital wrinkles |
OMIM:305100 |
Coccidioidomycosis |
|
Respiratory distress, Pneumonia, Hydrocephalus, Pleural empyema, Cough, Exudative pleural effusion |
ORPHA:228123 |
Heterotaxy, Visceral, 7, Autosomal |
|
Cyanosis |
OMIM:616749 |
Colchicine Poisoning |
|
Respiratory distress, Cardiorespiratory arrest |
ORPHA:31824 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Recurrent intrapulmonary hemorrhage, Carotid cavernous fistula, Diffuse alveolar hemorrhage, Cryp... |
OMIM:130050 |
Diamond-Blackfan Anemia 10 |
|
Respiratory distress |
OMIM:613309 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Optic disc pallor, Precocious puberty, Cryptorchidism, Deep philtrum, Abnormality of the endocrin... |
ORPHA:438213 |
Congenital Alveolar Capillary Dysplasia |
|
Respiratory distress, Pulmonary arterial hypertension |
ORPHA:210122 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Respiratory distress, Neonatal respiratory distress, Microcephaly, Erythema, Respiratory acidosis... |
OMIM:614748 |
Thauvin-Robinet-Faivre Syndrome |
|
Renal cyst, Pedal edema, Macroglossia, Varicose veins, Thick vermilion border, Nephroblastoma |
OMIM:617107 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Decreased serum insulin-like growth factor 1, Decreased circulating cortisol level, Alopecia, Dec... |
ORPHA:293978 |
Osteoglophonic Dysplasia |
|
Respiratory distress, Failure to thrive |
OMIM:166250 |
Generalized Arterial Calcification Of Infancy |
|
Respiratory distress, Cerebral calcification, Cyanosis, Failure to thrive in infancy, Encephaloma... |
ORPHA:51608 |
Arboleda-Tham Syndrome |
|
Respiratory distress, Neonatal respiratory distress, Microcephaly, Primary microcephaly, Recurren... |
OMIM:616268 |
8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Respiratory distress, Small for gestational age, Secondary microcephaly, Hypoplas... |
ORPHA:508488 |
Primary Hyperoxaluria |
|
Failure to thrive, Acrocyanosis, Cutis marmorata |
ORPHA:416 |
Agammaglobulinemia, X-Linked |
|
Enteroviral hepatitis, Epididymitis, Prostatitis, Hepatocellular carcinoma |
OMIM:300755 |
Varicose Veins |
|
Varicose veins |
OMIM:192200 |
Norrie Disease |
|
Diabetes mellitus, Venous insufficiency, Cryptorchidism, Optic atrophy, Thin vermilion border, Ut... |
ORPHA:649 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Multicystic kidney dysplasia, Macroglossia, Varicose veins, Thick vermilion border, Camptodactyly... |
ORPHA:500095 |
Glomuvenous Malformation |
|
Gastrointestinal arteriovenous malformation, Oral mucosa nodule, Arteriovenous malformation, Veno... |
ORPHA:83454 |
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Asthma, Nasal flaring, Obesity |
ORPHA:466943 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Respiratory distress, Diffuse cerebral atrophy, Failure to thrive, Microcephaly |
ORPHA:83617 |
Familial Dysautonomia |
|
Acrocyanosis |
ORPHA:1764 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Cyanosis, Paroxysmal dy... |
ORPHA:99125 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Respiratory distress, Umbilical hernia, Failure to thrive, Small for gestational age |
ORPHA:2255 |
Cleidocranial Dysplasia 1 |
|
Respiratory distress, Neonatal respiratory distress |
OMIM:119600 |
Doors Syndrome |
|
Respiratory distress, Microcephaly, Sirenomelia, Aspiration pneumonia, Spina bifida occulta, Poly... |
ORPHA:79500 |
Isolated Arrhinia |
|
Respiratory distress |
ORPHA:1134 |
Hyperoxaluria, Primary, Type I |
|
Acrocyanosis, Cutis marmorata |
OMIM:259900 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia, Rhinitis, Co... |
ORPHA:95455 |
Classical Ehlers-Danlos Syndrome |
|
Prematurely aged appearance, Poor wound healing, Umbilical hernia, Ecchymosis, Acrocyanosis, Frag... |
ORPHA:287 |
Coffin-Lowry Syndrome |
|
Decreased body weight, Acrocyanosis, Cutis marmorata, Microcephaly |
OMIM:303600 |
Stüve-Wiedemann Syndrome |
|
Respiratory distress, Asthma, Apnea |
ORPHA:3206 |
Leptospirosis |
|
Respiratory distress, Pleural effusion, Jaundice, Cough |
ORPHA:509 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Failure to thrive, Cyanosis |
ORPHA:216694 |
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Respiratory distress, Cerebral white matter atrophy, Abnormal globus pallidus morphology, Recurre... |
ORPHA:99646 |
Cardiac Valvular Dysplasia 1 |
|
Cyanosis |
OMIM:212093 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Respiratory distress, Abnormal cortical gyration, Hypoplasia of the corpus callosum |
ORPHA:480880 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Respiratory distress |
OMIM:617088 |
Ulbright-Hodes Syndrome |
|
Respiratory distress, Respiratory failure, Pneumothorax |
ORPHA:3404 |
Plague |
|
Respiratory distress, Acute infectious pneumonia |
ORPHA:707 |
Alström Syndrome |
|
Respiratory distress, Dorsocervical fat pad, Chronic pulmonary obstruction, Recurrent pneumonia, ... |
ORPHA:64 |
Pmm2-Cdg |
|
Respiratory distress, Abnormal subcutaneous fat tissue distribution, Failure to thrive, Aspiratio... |
ORPHA:79318 |
Goldberg-Shprintzen Syndrome |
|
Aortic regurgitation, Aganglionic megacolon, Highly arched eyebrow, Synophrys, Oligodontia, Evert... |
OMIM:609460 |