Hypothyroidism, Congenital, Nongoitrous, 1 |
|
Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration, Thyroid hypoplasi... |
OMIM:275200 |
Thyroid Cancer, Nonmedullary, 1 |
|
Non-medullary thyroid carcinoma, Papillary thyroid carcinoma, Goiter |
OMIM:188550 |
Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors |
|
Euthyroid multinodular goiter, Papillary thyroid carcinoma |
OMIM:138800 |
Hypothyroidism, Congenital, Nongoitrous, 9 |
|
Central hypothyroidism, Inappropriately normal thyroid-stimulating hormone level, Decreased circu... |
OMIM:301035 |
Pituitary Adenoma 5, Multiple Types |
|
Pituitary adenoma |
OMIM:617540 |
Thyroid Dyshormonogenesis 5 |
|
Hypothyroidism, Goiter |
OMIM:274900 |
Thyroid Dyshormonogenesis 4 |
|
Hypothyroidism, Goiter |
OMIM:274800 |
Thyroid Dyshormonogenesis 3 |
|
Goiter, Compensated hypothyroidism, Increased T3/T4 ratio, Thyroid carcinoma |
OMIM:274700 |
Deiodinase, iodothyronine, type I |
|
Goiter, Euthyroid hyperthyroxinemia |
OMIM:147892 |
Thyroid Hormone Plasma Membrane Transport Defect |
|
Goiter, Euthyroid hyperthyroxinemia |
OMIM:188560 |
Thyroid Dyshormonogenesis 2A |
|
Hypothyroidism, Thyroid defect in oxidation and organification of iodide, Decreased circulating T... |
OMIM:274500 |
Goiter, Multinodular 2 |
|
Euthyroid multinodular goiter |
OMIM:300273 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:265430 |
Renal Hypodysplasia/Aplasia 4 |
|
Respiratory failure, Pulmonary hypoplasia |
OMIM:619887 |
Fetal Iodine Deficiency Disorder |
|
Congenital goiter, Congenital hypothyroidism |
OMIM:228355 |
Isolated Growth Hormone Deficiency, Type Iv |
|
Decreased serum insulin-like growth factor 1, Anterior pituitary hypoplasia, Decreased response t... |
OMIM:618157 |
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Agenesis Of The Corpus Callosum |
|
Goiter, Primary hypothyroidism |
OMIM:225040 |
Thyroid Hormone Resistance, Generalized, Autosomal Dominant |
|
Goiter, Impaired sensitivity to thyroid hormone, Increased circulating free T4 concentration, Inc... |
OMIM:188570 |
Emphysema, Hereditary Pulmonary |
|
Chronic bronchitis, Chronic pulmonary obstruction, Emphysema |
OMIM:130700 |
Thyroid Cancer, Nonmedullary, 4 |
|
Papillary thyroid carcinoma, Goiter, Ovarian neoplasm |
OMIM:616534 |
Hypothyroidism, Congenital, Nongoitrous, 5 |
|
Hypothyroidism, Decreased circulating free T4 concentration, Elevated circulating thyroid-stimula... |
OMIM:225250 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4 |
|
Apnea, Neonatal death, Pulmonary hypoplasia |
OMIM:615228 |
Thyroid Hormone Metabolism, Abnormal, 1 |
|
Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration, Increased circula... |
OMIM:609698 |
Blepharochalasis And Double Lip |
|
Goiter |
OMIM:109900 |
Pendred Syndrome |
|
Goiter, Compensated hypothyroidism, Thyroid carcinoma |
OMIM:274600 |
Renal Hypodysplasia/Aplasia 2 |
|
Pulmonary hypoplasia |
OMIM:615721 |
Spinal Muscular Atrophy, Type I |
|
Respiratory insufficiency, Recurrent respiratory infections, Death in childhood, Respiratory failure |
OMIM:253300 |
Larsen-Like Syndrome, Lethal Type |
|
Respiratory insufficiency, Tracheomalacia, Neonatal death, Pulmonary hypoplasia |
OMIM:245650 |
Lethal Congenital Contracture Syndrome 11 |
|
Pulmonary hypoplasia |
OMIM:617194 |
Anaplastic Thyroid Carcinoma |
|
Nodular goiter, Laryngotracheal stenosis, Anaplastic thyroid carcinoma, Respiratory distress, Tra... |
ORPHA:142 |
Leptin Receptor Deficiency |
|
Decreased response to growth hormone stimulation test, Abnormal hypothalamus morphology, Diabetes... |
OMIM:614963 |
Immunodeficiency 95 |
|
Respiratory distress, Respiratory failure, Recurrent viral upper respiratory tract infections, Re... |
OMIM:619773 |
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome |
|
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Gonadotropi... |
ORPHA:231720 |
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
Goiter |
OMIM:600791 |
Isolated Growth Hormone Deficiency, Type Ii |
|
Decreased serum insulin-like growth factor 1, Anterior pituitary hypoplasia, Decreased response t... |
OMIM:173100 |
Lethal Congenital Contracture Syndrome 3 |
|
Respiratory insufficiency, Neonatal death |
OMIM:611369 |
Congenital Pulmonary Airway Malformation |
|
Respiratory insufficiency, Abnormal pleura morphology |
ORPHA:2444 |
Larynx Atresia |
|
Respiratory insufficiency, Recurrent respiratory infections |
ORPHA:1202 |
Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Increased circulating prolactin concentration, Elevated circulating thyroid-stimulating hormone c... |
ORPHA:99832 |
Pituitary Hormone Deficiency, Combined, 3 |
|
Anterior hypopituitarism, Anterior pituitary hypoplasia, Decreased response to growth hormone sti... |
OMIM:221750 |
Intellectual Developmental Disorder, X-Linked, With Panhypopituitarism |
|
Hypothyroidism, Decreased response to growth hormone stimulation test, Panhypopituitarism |
OMIM:300123 |
Rhabdomyosarcoma, Embryonal, 2 |
|
Ovarian thecoma, Thyroid nodule, Multinodular goiter, Goiter |
OMIM:180295 |
Bronchopulmonary Dysplasia |
|
Central apnea, Hyperoxemia, Pulmonary sequestration, Tracheobronchomalacia, Abnormal respiratory ... |
ORPHA:70589 |
Glaucoma-Sleep Apnea Syndrome |
|
Respiratory insufficiency, Sleep apnea |
ORPHA:2085 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Desquamative interstitial pneumonitis, Respiratory distress, Recurrent upper respiratory tract in... |
OMIM:263000 |
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Multinodular goiter |
ORPHA:2091 |
Mucus Inspissation Of Respiratory Tract |
|
Bronchiectasis, Chronic pulmonary obstruction, Chronic sinusitis, Recurrent respiratory infection... |
OMIM:253240 |
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies |
|
Multinodular goiter |
OMIM:138790 |
Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies |
|
Respiratory insufficiency, Respiratory failure |
OMIM:208081 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Pulmonary arterial hypertension, Intraalveolar phospholipid accumulation, Desquamative interstiti... |
OMIM:265120 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Desquamative interstitial pneumonitis, Absent bronchoalveolar surfactant-protein C, Paraseptal em... |
OMIM:610921 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Pulmonary arterial hypertension, Neonatal death, Pulmonary hypoplasia, Neonatal respiratory distress |
OMIM:619003 |
Ciliary Dyskinesia, Primary, 21 |
|
Decreased nasal nitric oxide, Bronchiectasis, Chronic sinusitis, Recurrent pneumonia, Neonatal re... |
OMIM:615294 |
Pituitary Dwarfism With Large Sella Turcica |
|
Hypothyroidism, Decreased response to growth hormone stimulation test |
OMIM:262710 |
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related |
|
Respiratory insufficiency, Apnea, Respiratory failure, Death in infancy |
OMIM:613869 |
Ciliary Dyskinesia, Primary, 29 |
|
Decreased nasal nitric oxide, Bronchiectasis, Recurrent respiratory infections, Ciliary dyskinesi... |
OMIM:615872 |
Idiopathic Acute Eosinophilic Pneumonia |
|
Respiratory insufficiency, Abnormal pleura morphology, Abnormal eosinophil morphology, Restrictiv... |
ORPHA:724 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Neonatal death, Death in childhood, Pulmonary hypoplasia, Death in infancy |
OMIM:614096 |
Asbestos Intoxication |
|
Abnormal pulmonary interstitial morphology, Respiratory failure, Exertional dyspnea, Late inspira... |
ORPHA:2302 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Hyperthyroidism, Increased circulating T4 concentration, Decreased thyroid-stimulating hormone le... |
OMIM:613239 |
Thyroid Hormone Resistance, Selective Pituitary |
|
Impaired sensitivity to thyroid hormone, Hyperthyroidism, Elevated circulating thyroid-stimulatin... |
OMIM:145650 |
Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Idiopathic Bronchiectasis |
|
Respiratory tract infection, Bronchiectasis, Productive cough, Abnormal respiratory system physio... |
ORPHA:60033 |
Retinal Dystrophy With Or Without Extraocular Anomalies |
|
Goiter |
OMIM:617175 |
Congenital Lobar Emphysema |
|
Respiratory distress, Emphysema |
ORPHA:1928 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Respiratory tract infection, Chronic bronchitis, Bronchiectasis, Honeycomb lung, Hypoxemia, Chron... |
ORPHA:79127 |
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism |
|
Pulmonary hypoplasia |
OMIM:613124 |
Hypothyroidism, Central, With Testicular Enlargement |
|
Hypothyroidism, Reduced circulating prolactin concentration, Inappropriately normal thyroid-stimu... |
OMIM:300888 |
Ciliary Dyskinesia, Primary, 5 |
|
Chronic bronchitis, Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance,... |
OMIM:608647 |
Tracheal Agenesis |
|
Aplasia/Hypoplasia of the lungs, Respiratory insufficiency |
ORPHA:3346 |
Pallister-Hall-Like Syndrome |
|
Death in infancy, Anterior hypopituitarism, Pulmonary hypoplasia, Microglossia, Cleft palate, Hyp... |
OMIM:241800 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Aspiration pneumonia, Dyspnea, Cough, Respiratory failure, Respiratory failure requiring assisted... |
ORPHA:90117 |
Allergic Bronchopulmonary Aspergillosis |
|
Respiratory insufficiency, Pulmonary arterial hypertension, Bronchiectasis, Asthma, Abnormal eosi... |
ORPHA:1164 |
Krabbe Disease, Atypical, Due To Saposin A Deficiency |
|
Respiratory insufficiency, Central apnea, Respiratory failure, Death in infancy |
OMIM:611722 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Respiratory insufficiency, Neonatal death, Bilateral lung agenesis |
OMIM:601612 |
Respiratory Distress Syndrome In Premature Infants |
|
Pulmonary edema, Respiratory distress, Dyspnea, Neonatal respiratory distress, Atelectasis, Tachy... |
OMIM:267450 |
Familial Papillary Or Follicular Thyroid Carcinoma |
|
Nodular goiter, Follicular thyroid carcinoma, Papillary thyroid carcinoma, Goiter |
ORPHA:319487 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory insufficiency, Desquamative interstitial pneumonitis, Bronchiectasis, Decreased DLCO,... |
OMIM:610913 |
Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Elevated circulating thyroid-stimulating hormone concentration, Type II diabetes mellitus, Increa... |
OMIM:274300 |
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Abnormal lung lobation, Pulmonary hypoplasia |
ORPHA:2631 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Bronchiectasis, Respiratory distress, Abnormal mucociliary clearance, Recurrent respiratory infec... |
OMIM:619466 |
Genetic Transient Congenital Hypothyroidism |
|
Elevated circulating thyroid-stimulating hormone concentration, Abnormal radioactive iodine uptak... |
ORPHA:226316 |
Thyroid Dyshormonogenesis 1 |
|
Hypothyroidism, Goiter |
OMIM:274400 |
Congenital Hypothyroidism |
|
Hypotension, Hypothyroidism, Hypogonadism, Anterior hypopituitarism, Macroglossia, Hypertension, ... |
ORPHA:442 |
Congenital Diaphragmatic Hernia |
|
Hypoxemia, Pulmonary hypoplasia, Respiratory distress |
ORPHA:2140 |
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
|
Respiratory failure, Respiratory insufficiency due to muscle weakness, Death in adolescence |
OMIM:300717 |
Pituitary Hormone Deficiency, Combined Or Isolated, 7 |
|
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test |
OMIM:618160 |
Ciliary Dyskinesia, Primary, 33 |
|
Bronchiectasis, Recurrent bronchitis, Chronic rhinitis, Recurrent pneumonia, Cough, Recurrent low... |
OMIM:616726 |
Infant Acute Respiratory Distress Syndrome |
|
Respiratory tract infection, Pulmonary edema, Nasal flaring, Hypoxemia, Respiratory failure, Pneu... |
ORPHA:70587 |
Nphp3-Related Meckel-Like Syndrome |
|
Pulmonary hypoplasia |
ORPHA:3032 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Hypotension, Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test... |
ORPHA:95494 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Recurrent bronchitis, Chronic sinusitis, Atelectasis |
OMIM:300455 |
Panhypopituitarism, X-Linked |
|
Panhypopituitarism |
OMIM:312000 |
Fanconi Anemia, Complementation Group B |
|
Hypogonadism, Esophageal atresia, Death in infancy, Abnormal lung lobation, Tracheoesophageal fis... |
OMIM:300514 |
Alpha-1-Antitrypsin Deficiency |
|
Chronic bronchitis, Bronchiectasis, Chronic pulmonary obstruction, Dyspnea, Cough, Panacinar emph... |
OMIM:613490 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Increased radioactive iodine uptake, Elevated circulating thyroid-stimulating hormone concentrati... |
ORPHA:90673 |
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities |
|
Pulmonary hypoplasia |
OMIM:616531 |
Graves Disease, Susceptibility To, 1 |
|
Increased circulating free T3, Decreased thyroid-stimulating hormone level, Graves disease, Incre... |
OMIM:275000 |
Septooptic Dysplasia |
|
Diabetes insipidus, Anterior pituitary hypoplasia, Decreased response to growth hormone stimulati... |
OMIM:182230 |
Septo-Optic Dysplasia Spectrum |
|
Diabetes insipidus, Hypohidrosis, Anterior pituitary hypoplasia, Esophageal atresia, Maternal dia... |
ORPHA:3157 |
Cystic Hamartoma Of Lung And Kidney |
|
Respiratory insufficiency, Pulmonary fibrosis, Recurrent respiratory infections |
ORPHA:2111 |
Combined Oxidative Phosphorylation Deficiency 51 |
|
Respiratory failure, Aspiration pneumonia, Neonatal respiratory distress |
OMIM:619057 |
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Nodular goiter, Papillary thyroid carcinoma, Goiter |
ORPHA:97290 |
Pituitary Stalk Interruption Syndrome |
|
Hypothyroidism, Diabetes insipidus, Death in infancy, Ectopic posterior pituitary, Delayed pubert... |
ORPHA:95496 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Neonatal respiratory distress, Respiratory failure, Pulmonary hypoplasia |
OMIM:616867 |
Pulmonary Hemosiderosis |
|
Respiratory insufficiency, Pulmonary fibrosis, Recurrent intrapulmonary hemorrhage |
OMIM:178550 |
Thyroid Lymphoma |
|
Hypothyroidism, Hyperthyroidism, Respiratory distress, Hashimoto thyroiditis, Upper airway obstru... |
ORPHA:97285 |
Ciliary Dyskinesia, Primary, 20 |
|
Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance, Recurrent sinusitis... |
OMIM:615067 |
Ciliary Dyskinesia, Primary, 44 |
|
Bronchiectasis, Reduced forced vital capacity, Recurrent sinusitis, Neonatal respiratory distress... |
OMIM:618781 |
Vacterl/Vater Association |
|
Anorectal anomaly, Ambiguous genitalia, Bifid scrotum, Aplasia/Hypoplasia of the lungs, Hypoplasi... |
ORPHA:887 |
Spondylospinal Thoracic Dysostosis |
|
Pulmonary hypoplasia |
OMIM:601809 |
Infantile Myofibromatosis |
|
Neoplasm of the pancreas, Tracheoesophageal fistula, Abnormal intestine morphology, Intestinal ob... |
ORPHA:2591 |
Pneumocystosis |
|
Respiratory insufficiency, Exertional dyspnea, Interstitial pneumonitis, Hypoxemia, Pleural effus... |
ORPHA:723 |
Hereditary Mucoepithelial Dysplasia |
|
Anorectal anomaly, Tracheoesophageal fistula, Pulmonary fibrosis, Furrowed tongue, Recurrent resp... |
ORPHA:1839 |
Developmental And Epileptic Encephalopathy 71 |
|
Respiratory insufficiency, Respiratory failure, Cheyne-Stokes respiration |
OMIM:618328 |
Renal Tubular Dysgenesis |
|
Pulmonary hypoplasia |
ORPHA:3033 |
Encephalopathy Due To Prosaposin Deficiency |
|
Respiratory insufficiency, Recurrent respiratory infections, Death in infancy |
ORPHA:139406 |
Acute Interstitial Pneumonia |
|
Nodular pattern on pulmonary HRCT, Bronchiectasis, Subpleural honeycombing, Peribronchovascular i... |
ORPHA:79126 |
Glutaric Aciduria Iii |
|
Hyperthyroidism, Goiter |
OMIM:231690 |
Maternal Uniparental Disomy Of Chromosome 2 |
|
Hypothyroidism, Decreased response to growth hormone stimulation test, Premature ovarian insuffic... |
ORPHA:96179 |
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency |
|
Ectopic posterior pituitary, Decreased serum insulin-like growth factor 1, Anterior pituitary hyp... |
ORPHA:67045 |
Acces Syndrome |
|
Tracheoesophageal fistula, Recurrent respiratory infections, Supernumerary nipple |
OMIM:619959 |
Recurrent Respiratory Papillomatosis |
|
Respiratory insufficiency, Respiratory distress, Recurrent pneumonia, Upper airway obstruction, R... |
ORPHA:60032 |
Thyroid Hypoplasia |
|
Hypothyroidism, Thyroid hypoplasia |
ORPHA:95720 |
Familial Nasal Acilia |
|
Bronchiectasis, Respiratory distress, Chronic sinusitis, Chronic rhinitis, Recurrent upper respir... |
ORPHA:922 |
Lethal Congenital Contracture Syndrome 1 |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:253310 |
Hyperthyroidism, Familial Gestational |
|
Decreased thyroid-stimulating hormone level, Increased circulating T4 concentration, Hyperthyroidism |
OMIM:603373 |
Craniopharyngioma |
|
Enlarged pituitary gland, Increased circulating prolactin concentration, Hypogonadism, Cerebral i... |
ORPHA:54595 |
Ciliary Dyskinesia, Primary, 37 |
|
Hypothyroidism, Bronchiectasis, Chronic rhinitis, Rhinorrhea, Wheezing, Goiter |
OMIM:617577 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Pancreatic hypoplasia, Neonatal insulin-dependent diabetes mellitus, Aplasia/Hypoplasia of the ga... |
ORPHA:2255 |
Microphthalmia, Syndromic 12 |
|
Pulmonary hypoplasia |
OMIM:615524 |
Pontocerebellar Hypoplasia, Type 1C |
|
Respiratory insufficiency, Respiratory failure, Death in childhood |
OMIM:616081 |
Primary Pulmonary Hypoplasia |
|
Pneumothorax, Abnormal breath sound, Asthma, Hypoxemia, Pulmonary hypoplasia, Apnea, Restrictive ... |
ORPHA:2257 |
Thyrocerebroretinal Syndrome |
|
Goiter |
OMIM:274240 |
Pituitary Hormone Deficiency, Combined Or Isolated, 1 |
|
Hypothyroidism, Anterior pituitary hypoplasia, Decreased circulating free T4 concentration, Reduc... |
OMIM:613038 |
Congenital Tracheomalacia |
|
Respiratory insufficiency, Pneumothorax, Bronchiectasis, Productive cough, Pulmonary hypoplasia, ... |
ORPHA:95430 |
Permanent Congenital Hypothyroidism |
|
Hypothyroidism, Thyroid dysgenesis, Goiter |
ORPHA:226292 |
Surfactant Metabolism Dysfunction, Pulmonary, 5 |
|
Respiratory insufficiency, Intraalveolar phospholipid accumulation, Exertional dyspnea, Dyspnea, ... |
OMIM:614370 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Testicular microlithiasis, Abnormal spermatogenesis, Decreased circulating dihydrotestosterone co... |
OMIM:228300 |
Butyrylcholinesterase Deficiency |
|
Respiratory failure, Respiratory failure requiring assisted ventilation |
ORPHA:132 |
Leydig Cell Hypoplasia |
|
Ambiguous genitalia, Breast aplasia, Increased circulating gonadotropin level, Primary amenorrhea... |
ORPHA:755 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Respiratory insufficiency, Intraalveolar phospholipid accumulation, Death in infancy, Death in ad... |
OMIM:618042 |
Pituicytoma |
|
Increased circulating prolactin concentration, Decreased response to growth hormone stimulation t... |
ORPHA:251623 |
Immunodeficiency 54 |
|
Respiratory insufficiency, Adrenocorticotropic hormone excess, Adrenal insufficiency, Respiratory... |
OMIM:609981 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Central hypothyroidism, Precocious puberty, Decreased circulating T4 concentration, Central apnea... |
ORPHA:98754 |
Esophageal Atresia |
|
Pulmonary hypoplasia, Dysphagia, Cleft palate, Bronchitis, Respiratory distress, Chronic pulmonar... |
ORPHA:1199 |
Bare Lymphocyte Syndrome, Type I |
|
Bronchiectasis, Recurrent bronchitis, Nasal polyposis, Chronic sinusitis, Emphysema, Bronchiolitis |
OMIM:604571 |
Birt-Hogg-Dubé Syndrome |
|
Pulmonary sequestration, Pneumothorax, Emphysema |
ORPHA:122 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Urethral atresia, Esophageal atresia, Pulmonary hypoplasia, Anal atresia, Tracheoesophageal fistu... |
OMIM:314390 |
Pituitary Adenoma 2, Growth Hormone-Secreting |
|
Elevated circulating growth hormone concentration, Pituitary adenoma |
OMIM:300943 |
Atelosteogenesis, Type Ii |
|
Respiratory insufficiency, Pulmonary hypoplasia, Stillbirth, Death in infancy |
OMIM:256050 |
Bangstad Syndrome |
|
Primary gonadal insufficiency, Goiter, Insulin-resistant diabetes mellitus |
OMIM:210740 |
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Respiratory insufficiency, Reduced maximal inspiratory pressure, Abnormal respiratory system phys... |
ORPHA:266 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Pulmonary hypoplasia |
ORPHA:2141 |
Acute Lung Injury |
|
Abnormal pulmonary interstitial morphology, Hypoxemia, Respiratory distress, Diffuse alveolar hem... |
ORPHA:178320 |
Culler-Jones Syndrome |
|
Diabetes insipidus, Anterior pituitary hypoplasia, Hypogonadism, Hypopituitarism, Ectopic posteri... |
OMIM:615849 |
Ciliary Dyskinesia, Primary, 42 |
|
Respiratory insufficiency, Decreased nasal nitric oxide, Bronchiectasis, Nasal polyposis, Recurre... |
OMIM:618695 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Central hypothyroidism, Inappropriately normal thyroid-stimulating hormone level, Decreased circu... |
OMIM:301033 |
Holoprosencephaly 9 |
|
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Panhypopitu... |
OMIM:610829 |
Autoimmune Polyendocrinopathy Type 3 |
|
Thymoma, Autoimmune hypoparathyroidism, Abnormal pulmonary interstitial morphology, Atrophic gast... |
ORPHA:227982 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Central hypothyroidism, Precocious puberty, Decreased circulating T4 concentration, Central apnea... |
ORPHA:98793 |
Ascher Syndrome |
|
Hypothyroidism, Goiter |
ORPHA:1253 |
Autoimmune Polyendocrinopathy Type 4 |
|
Thymoma, Abnormal pulmonary interstitial morphology, Atrophic gastritis, Anterior pituitary dysge... |
ORPHA:227990 |
Renal Tubular Dysgenesis |
|
Respiratory insufficiency, Pulmonary hypoplasia |
OMIM:267430 |
Thyrocerebrorenal Syndrome |
|
Euthyroid goiter |
ORPHA:3327 |
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
|
Abnormality of thyroid physiology, Reduced radioactive iodine uptake, Decreased thyroid-stimulati... |
ORPHA:95715 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Central hypothyroidism, Precocious puberty, Decreased circulating T4 concentration, Central apnea... |
ORPHA:177904 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Pulmonary hypoplasia, Respiratory distress |
OMIM:616733 |
Axial Mesodermal Dysplasia Spectrum |
|
Gastroesophageal reflux, Morphological abnormality of the gastrointestinal tract, Anorectal anoma... |
ORPHA:1834 |
Ciliary Dyskinesia, Primary, 23 |
|
Chronic bronchitis, Bronchiectasis, Productive cough, Respiratory insufficiency due to defective ... |
OMIM:615451 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Hyperthyroidism, Goiter |
OMIM:188580 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Central hypothyroidism, Precocious puberty, Decreased circulating T4 concentration, Central apnea... |
ORPHA:177901 |
Rhombencephalosynapsis |
|
Esophageal atresia, Aganglionic megacolon, Anal atresia, Tracheoesophageal fistula, Abnormality o... |
ORPHA:59315 |
Ciliary Dyskinesia, Primary, 11 |
|
Chronic bronchitis, Decreased nasal nitric oxide, Bronchiectasis, Immotile cilia, Abnormal centra... |
OMIM:612649 |
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect |
|
Pulmonary hypoplasia, Stillbirth |
OMIM:617468 |
Methimazole Embryofetopathy |
|
Hypothyroidism, Esophageal atresia, Tracheoesophageal fistula, Hypospadias, Abnormality of the th... |
ORPHA:1923 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration, Thyroid hypoplasi... |
OMIM:218700 |
Ciliary Dyskinesia, Primary, 28 |
|
Rhinitis, Chronic bronchitis, Decreased nasal nitric oxide, Bronchiectasis, Respiratory insuffici... |
OMIM:615505 |
Hyperthyroidism, Nonautoimmune |
|
Hyperthyroidism, Increased circulating T4 concentration, Thyroid hyperplasia, Increased circulati... |
OMIM:609152 |
Ane Syndrome |
|
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Abnormal re... |
ORPHA:157954 |
Polyendocrine-Polyneuropathy Syndrome |
|
Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Anterio... |
ORPHA:453533 |
Cutis Laxa, Neonatal, With Marfanoid Phenotype |
|
Emphysema |
OMIM:614100 |
Prader-Willi-Like Syndrome |
|
Central hypothyroidism, Precocious puberty, Decreased circulating T4 concentration, Central apnea... |
ORPHA:398073 |
Czeizel-Losonci Syndrome |
|
Tracheoesophageal fistula, Hypoplastic nipples, High palate, Pulmonary hypoplasia |
ORPHA:2437 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Hypotension, Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreas... |
ORPHA:289548 |
Laryngeal Abductor Paralysis |
|
Respiratory insufficiency |
ORPHA:2808 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Respiratory insufficiency, Recurrent respiratory infections |
ORPHA:2432 |
Pendred Syndrome |
|
Goiter, Hypothyroidism, Hyperparathyroidism, Thyroid carcinoma |
ORPHA:705 |
Tracheobronchopathia Osteochondroplastica |
|
Bronchitis, Respiratory insufficiency, Recurrent respiratory infections, Productive cough, Exerti... |
ORPHA:3348 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Female hypogonadism, Primary amenorrhea, Gonadotropin deficiency, Decreased serum estradiol, Decr... |
ORPHA:52901 |
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Hypotension, Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreas... |
ORPHA:168558 |
Growth Hormone Deficiency, Isolated Partial |
|
Small pituitary gland, Decreased response to growth hormone stimulation test |
OMIM:615925 |
Congenital Myopathy 14 |
|
Apnea, Respiratory failure, Respiratory insufficiency due to muscle weakness, Death in infancy |
OMIM:618414 |
Pituitary Hormone Deficiency, Combined, 6 |
|
Decreased circulating follicle stimulating hormone concentration, Decreased circulating ACTH leve... |
OMIM:613986 |
Familial Thyroid Dyshormonogenesis |
|
Increased radioactive iodine uptake, Elevated circulating thyroid-stimulating hormone concentrati... |
ORPHA:95716 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Intestinal malrotation, Testicular atrophy, Pulmonary hypoplasia |
OMIM:601163 |
Sarcoidosis, Susceptibility To, 2 |
|
Pulmonary arterial hypertension, Abnormal pulmonary interstitial morphology, Pneumothorax, Bronch... |
OMIM:612387 |
Congenital Myopathy 1B, Autosomal Recessive |
|
Respiratory insufficiency, Recurrent respiratory infections, Pulmonary hypoplasia |
OMIM:255320 |
Achondrogenesis Type 2 |
|
Cardiorespiratory arrest, Pulmonary hypoplasia |
ORPHA:93296 |
Staphylococcal Necrotizing Pneumonia |
|
Pneumothorax, Pleural empyema, Hypoxemia, Respiratory distress, Tachypnea, Pleural effusion, Nonp... |
ORPHA:36238 |
Chronic Beryllium Disease |
|
Respiratory insufficiency, Reticulonodular pattern on pulmonary HRCT, Abnormal respiratory system... |
ORPHA:133 |
Acro-Renal-Mandibular Syndrome |
|
Aplasia/Hypoplasia of the tongue, High palate, Bicornuate uterus, Abnormal lung lobation, Pulmona... |
ORPHA:958 |
Idiopathic Pulmonary Hemosiderosis |
|
Nodular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Reticular pattern on pulmonary HR... |
ORPHA:99931 |
Nephronophthisis 2 |
|
Respiratory insufficiency, Respiratory failure, Pulmonary hypoplasia |
OMIM:602088 |
Maffucci Syndrome |
|
Parathyroid adenoma, Neoplasm of the parathyroid gland, Neoplasm of the adrenal cortex, Pituitary... |
ORPHA:163634 |
Ciliary Dyskinesia, Primary, 27 |
|
Rhinitis, Chronic bronchitis, Decreased nasal nitric oxide, Bronchiectasis, Respiratory insuffici... |
OMIM:615504 |
Alpha-1-Antitrypsin Deficiency |
|
Emphysema |
ORPHA:60 |
Cutis Laxa-Marfanoid Syndrome |
|
Emphysema |
ORPHA:171719 |
Nemaline Myopathy 8 |
|
Respiratory failure, Death in infancy |
OMIM:615348 |
Ciliary Dyskinesia, Primary, 30 |
|
Respiratory insufficiency, Chronic bronchitis, Recurrent respiratory infections, Bronchiectasis, ... |
OMIM:616037 |
Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Decreased nasal nitric oxide, Bronchiectasis, Recurrent sinusitis, Cough, Neonatal respiratory di... |
OMIM:300991 |
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
High palate, Supernumerary nipple, Micropenis, Cryptorchidism, Interhypothalamic Adhesion, Tricus... |
OMIM:618929 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory insufficiency, Ventilator dependence with inability to wean, Respiratory distress, Re... |
ORPHA:254875 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Respiratory failure, Recurrent aspiration pneumonia, Respiratory insufficiency due to muscle weak... |
ORPHA:2590 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Macroorchidism, Increased circulating prolactin concentration, Increased pituitary glycoprotein h... |
ORPHA:90674 |
Epidermodysplasia Verruciformis, Susceptibility To, 4 |
|
Emphysema |
OMIM:618307 |
Heparin-Induced Thrombocytopenia |
|
Pulmonary embolism, Increased serum serotonin, Myocardial infarction, Cerebral ischemia |
ORPHA:3325 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Gonadotropin deficiency, Oxygen desaturation on exertion, Compensated hypothyroidism, Crackles, W... |
OMIM:610978 |
Tonne-Kalscheuer Syndrome |
|
Decreased testicular size, Velopharyngeal insufficiency, Pulmonary hypoplasia, Hypospadias, Crypt... |
OMIM:300978 |
Igg4-Related Thyroid Disease |
|
Hypothyroidism, Nodular goiter, Thyroiditis, Thyrotoxicosis with diffuse goiter, Graves disease, ... |
ORPHA:64744 |
Vacterl With Hydrocephalus |
|
Abnormal fallopian tube morphology, Esophageal atresia, Anal atresia, Pulmonary hypoplasia, Trach... |
ORPHA:3412 |
Primary Ciliary Dyskinesia |
|
Respiratory tract infection, Respiratory failure, Bronchiectasis, Productive cough, Peribronchova... |
ORPHA:244 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Neonatal death, Pulmonary hypoplasia, Stillbirth |
OMIM:236500 |
Ciliary Dyskinesia, Primary, 3 |
|
Decreased nasal nitric oxide, Bronchiectasis, Recurrent sinusitis, Neonatal respiratory distress,... |
OMIM:608644 |
Scedosporiosis |
|
Bronchitis, Pleural empyema, Pleuritis, Abnormal respiratory system physiology, Sinusitis, Cough,... |
ORPHA:449280 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Respiratory failure, Neonatal death, Respiratory insufficiency due to muscle weakness, Cryptorchi... |
OMIM:611890 |
Familial Gestational Hyperthyroidism |
|
Activating thyroid-stimulating hormone receptor defect, Hyperthyroidism, Thyrotoxicosis with diff... |
ORPHA:99819 |
Wolfram-Like Syndrome |
|
Primary gonadal insufficiency, Hypothyroidism, Respiratory insufficiency, Male hypogonadism, Diab... |
ORPHA:411590 |
Serkal Syndrome |
|
Malrotation of small bowel, Sex reversal, Pulmonary hypoplasia, Hypospadias, Abnormality of the a... |
ORPHA:139466 |
Non-24-Hour Sleep-Wake Syndrome |
|
Abnormal pineal melatonin secretion |
ORPHA:73267 |
Congenital Tracheal Stenosis |
|
Anomalous origin of left pulmonary artery from ascending aorta, Morphological abnormality of the ... |
ORPHA:141127 |
Dystonia 30 |
|
Hypothalamic hamartoma |
OMIM:619291 |
Ciliary Dyskinesia, Primary, 26 |
|
Rhinitis, Chronic bronchitis, Recurrent respiratory infections, Bronchiectasis, Decreased nasal n... |
OMIM:615500 |
Brain-Lung-Thyroid Syndrome |
|
Pulmonary arterial hypertension, Thyroid hemiagenesis, Abnormal pulmonary interstitial morphology... |
ORPHA:209905 |
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome |
|
Aplasia/Hypoplasia of the lungs, Recurrent respiratory infections |
ORPHA:1548 |
Adult Acute Respiratory Distress Syndrome |
|
Pulmonary edema, Hypoxemia, Dyspnea, Abnormal blood gas level, Respiratory failure, Pneumonia |
ORPHA:70578 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Pulmonary artery dilatation, Pleural effusion, Pulmonary artery stenosis, Cleft palate, Misalignm... |
OMIM:265380 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Decreased circulating follicle stimulating hormone concentration, Anterior pituitary hypoplasia, ... |
ORPHA:226307 |
Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Esophageal atresia, Bilateral cryptorchidism, Tracheoesophageal fistula, Coronal hypospadias, Neo... |
OMIM:619859 |
Duplication Of The Pituitary Gland |
|
Volvulus, Cleft palate, Abnormality of the pituitary gland, Abnormal hypothalamus morphology |
ORPHA:314621 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Hypogonadotropic hypogonadism, Hypoplasia of penis, Tracheoesophageal fistula |
ORPHA:3068 |
Toxic Epidermal Necrolysis |
|
Sudden cardiac death, Intestinal perforation, Abnormal pleura morphology, Malabsorption, Respirat... |
ORPHA:537 |
Arthrogryposis Multiplex Congenita 6 |
|
Respiratory failure, Neonatal death, Death in childhood, Death in infancy |
OMIM:619334 |
Pericardial And Diaphragmatic Defect |
|
Neonatal respiratory distress, Pulmonary sequestration, Hypoxemia, Pulmonary hypoplasia |
ORPHA:2847 |
Ciliary Dyskinesia, Primary, 15 |
|
Chronic bronchitis, Bronchiectasis, Abnormal axonemal organization of respiratory motile cilia, N... |
OMIM:613808 |
Opitz Gbbb Syndrome |
|
Dysphagia, High palate, Ectopic anus, Recurrent aspiration pneumonia, Shawl scrotum, Ankyloglossi... |
ORPHA:2745 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Respiratory insufficiency, Neonatal death, Pulmonary hypoplasia |
OMIM:224410 |
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification |
|
Emphysema |
OMIM:210050 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Activating thyroid-stimulating hormone receptor defect, Hyperthyroidism, Thyrotoxicosis with diff... |
ORPHA:424 |
Pituitary Carcinoma |
|
Pituitary thyrotropic cell adenoma, Enlarged pituitary gland, Diabetes insipidus, Pituitary corti... |
ORPHA:300385 |
Amoebiasis Due To Free-Living Amoebae |
|
Respiratory tract infection, Abnormal hypothalamus morphology, Sinusitis, Abnormality of the adre... |
ORPHA:68 |
Dyskeratosis Congenita |
|
Anorectal anomaly, Hyperhidrosis, Abnormal testis morphology, Malabsorption, Neoplasm of the panc... |
ORPHA:1775 |
Boomerang Dysplasia |
|
Aplasia/Hypoplasia of the lungs, Decreased response to growth hormone stimulation test, Cryptorch... |
ORPHA:1263 |
Fetal Akinesia Deformation Sequence |
|
Respiratory insufficiency, Pulmonary hypoplasia, Cryptorchidism, Intestinal hypoplasia, Cleft pal... |
ORPHA:994 |
Hypogonadotropic Hypogonadism 27 Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Reduced response to gonadotropi... |
OMIM:619755 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory failure, Pulmonary hypoplasia, Respiratory distress |
OMIM:617895 |
Non-Acquired Panhypopituitarism |
|
Hypotension, Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test... |
ORPHA:90695 |
Martinez-Frias Syndrome |
|
Pancreatic hypoplasia, Hypoplasia of the gallbladder, Jejunal atresia, Annular pancreas, Intestin... |
OMIM:601346 |
Pontocerebellar Hypoplasia, Type 4 |
|
Respiratory failure, Death in infancy |
OMIM:225753 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreased circulatin... |
ORPHA:90793 |
Renal Agenesis, Bilateral |
|
Pulmonary hypoplasia, Tracheoesophageal fistula, Abnormal intestine morphology, Cleft palate, Abn... |
ORPHA:1848 |
Holoprosencephaly 2 |
|
Diabetes insipidus, Absent nasal septal cartilage, Bifid uvula, Submucous cleft hard palate, Medi... |
OMIM:157170 |
Ceroid Lipofuscinosis, Neuronal, 10 |
|
Respiratory insufficiency, Neonatal death, Respiratory failure, Apnea |
OMIM:610127 |
Medullary Thyroid Carcinoma |
|
Nodular goiter, Pheochromocytoma, Elevated calcitonin, Medullary thyroid carcinoma, Primary hyper... |
ORPHA:1332 |
Ciliary Dyskinesia, Primary, 18 |
|
Rhinitis, Chronic bronchitis, Decreased nasal nitric oxide, Respiratory insufficiency due to defe... |
OMIM:614874 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Gastroesophageal reflux, Pulmonary hypoplasia, Pectus excavatum, Intestinal malrotation, Hypospad... |
OMIM:618316 |
Cowden Syndrome 7 |
|
Hashimoto thyroiditis, Ductal carcinoma in situ, Papillary thyroid carcinoma, Goiter |
OMIM:616858 |
Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory failure, Dyspnea, Respiratory distress |
ORPHA:1832 |
Ciliary Dyskinesia, Primary, 9 |
|
Decreased nasal nitric oxide, Bronchiectasis, Recurrent sinusitis, Chronic sinusitis, Chronic rhi... |
OMIM:612444 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Hypereosinophilia, Asthma, Hypoxemia, Pleural effusion, Crackles, Nonproductive cough, Restrictiv... |
ORPHA:2902 |
Pallister-Hall Syndrome |
|
Precocious puberty, Decreased response to growth hormone stimulation test, Neonatal death, Decrea... |
OMIM:146510 |
Alg3-Cdg |
|
High palate, Abnormal uvula morphology, Abnormality of the gastrointestinal tract, Macroglossia, ... |
ORPHA:79321 |
Ciliary Dyskinesia, Primary, 32 |
|
Decreased nasal nitric oxide, Bronchiectasis, Absent respiratory ciliary axoneme radial spokes, I... |
OMIM:616481 |
Chronic Granulomatous Disease |
|
Malabsorption, Pyloric stenosis, Chronic pulmonary obstruction, Tracheoesophageal fistula, Sinusi... |
ORPHA:379 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Elevated circulating thyroid-stimulating hormone concentration, Respiratory distress, Decreased c... |
ORPHA:226313 |
Avian Influenza |
|
Pneumothorax, Productive cough, Hypoxemia, Respiratory distress, Miscarriage, Pleural effusion, D... |
ORPHA:454836 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Bilateral lung agenesis, Adrenal gland agenesis, Sex reversal, Pulmonary hypoplasia, Hypospadias,... |
OMIM:611812 |
Ciliary Dyskinesia, Primary, 14 |
|
Chronic bronchitis, Bronchiectasis, Abnormal axonemal organization of respiratory motile cilia, A... |
OMIM:613807 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Esophageal atresia, Hypoplasia of penis, Tracheoesophageal fistula, Hypospadias, Cryptorchidism |
ORPHA:77298 |
Thanatophoric Dysplasia |
|
Respiratory insufficiency, Pulmonary hypoplasia |
ORPHA:2655 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Aplasia/Hypoplasia of the lungs, Respiratory insufficiency |
ORPHA:1046 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Pulmonary hypoplasia |
ORPHA:1486 |
Ciliary Dyskinesia, Primary, 24 |
|
Decreased nasal nitric oxide, Bronchiectasis, Immotile cilia, Recurrent sinusitis, Chronic pulmon... |
OMIM:615481 |
Meconium Aspiration Syndrome |
|
Pulmonary arterial hypertension, Aspiration pneumonia, Pneumothorax, Hypoxemia, Respiratory distr... |
ORPHA:70588 |
Ciliary Dyskinesia, Primary, 34 |
|
Decreased nasal nitric oxide, Bronchiectasis, Recurrent bronchitis, Reduced respiratory ciliary b... |
OMIM:617091 |
Developmental And Epileptic Encephalopathy 105 With Hypopituitarism |
|
Anterior pituitary hypoplasia, Pituitary hypothyroidism |
OMIM:619983 |
Matthew-Wood Syndrome |
|
Aplasia/Hypoplasia of the pancreas, Annular pancreas, Pulmonary hypoplasia, Duodenal stenosis, Ab... |
ORPHA:2470 |
Congenital Myopathy 10A, Severe Variant |
|
Respiratory insufficiency, Restrictive ventilatory defect, Respiratory distress, Respiratory failure |
OMIM:614399 |
1Q41Q42 Microdeletion Syndrome |
|
Submucous cleft hard palate, Pulmonary hypoplasia, Hypergonadotropic hypogonadism, Cryptorchidism... |
ORPHA:250999 |
Dysplastic Cortical Hyperostosis |
|
Aplasia/Hypoplasia of the lungs |
ORPHA:2204 |
Ciliary Dyskinesia, Primary, 25 |
|
Chronic bronchitis, Bronchiectasis, Productive cough, Immotile cilia, Recurrent sinusitis, Chroni... |
OMIM:615482 |
Odontochondrodysplasia 1 |
|
Respiratory distress, Recurrent respiratory infections, Pulmonary hypoplasia, Death in infancy |
OMIM:184260 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Abnormal lung lobation, Pulmonary hypoplasia, Stillbirth |
OMIM:615415 |
Pituitary Adenoma 1, Multiple Types |
|
Increased circulating prolactin concentration, Pituitary adenoma, Prolactinoma, Increased circula... |
OMIM:102200 |
Laryngotracheoesophageal Cleft Type 4 |
|
Tracheoesophageal fistula, Respiratory insufficiency, Intestinal atresia, Tracheal stenosis |
ORPHA:93941 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Apnea, Respiratory failure, Death in infancy |
OMIM:616277 |
Thanatophoric Dysplasia, Type I |
|
Neonatal respiratory distress, Neonatal death, Pulmonary hypoplasia |
OMIM:187600 |
Penile Agenesis |
|
Anorectal anomaly, Ambiguous genitalia, Absent penis, Bilateral lung agenesis, Urethral fistula, ... |
ORPHA:49 |
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability |
|
Respiratory failure |
OMIM:600561 |
Acromelic Frontonasal Dysplasia |
|
Anterior pituitary hypoplasia, Hypopituitarism, Upper airway obstruction, Cryptorchidism, Median ... |
ORPHA:1827 |
Central Hypoventilation Syndrome, Congenital, 3 |
|
Apnea, Respiratory failure, Central hypoventilation |
OMIM:619483 |
Congenital Alveolar Capillary Dysplasia |
|
Absent gallbladder, Pulmonary arterial hypertension, Volvulus, Aganglionic megacolon, Anal atresi... |
ORPHA:210122 |
Mccune-Albright Syndrome |
|
Decreased fertility, Macroorchidism, Increased circulating prolactin concentration, Precocious pu... |
ORPHA:562 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Hypoxemia, Respiratory distress, Tachypnea, Crackles, Restrictive ventilatory defect, Cough, Craz... |
ORPHA:264675 |
Severe Congenital Nemaline Myopathy |
|
Respiratory failure, Pulmonary hypoplasia |
ORPHA:171430 |
Agnathia-Otocephaly Complex |
|
Tracheomalacia, Pulmonary hypoplasia, Respiratory distress |
OMIM:202650 |
Mounier-KĂ¼hn Syndrome |
|
Bronchitis, Recurrent bronchopulmonary infections, Tracheal stenosis, Pneumonia, Recurrent respir... |
ORPHA:3347 |
Xq21 Microdeletion Syndrome |
|
Decreased response to growth hormone stimulation test, Anterior hypopituitarism, Anterior pituita... |
ORPHA:1435 |
Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Respiratory failure |
OMIM:618637 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hypotension, Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Ambiguo... |
ORPHA:90791 |
Muscular Dystrophy, Congenital, 1B |
|
Respiratory failure |
OMIM:604801 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Adrenal insufficiency, Respiratory failure, Death in infancy |
OMIM:619386 |
Ciliary Dyskinesia, Primary, 22 |
|
Rhinitis, Chronic bronchitis, Decreased nasal nitric oxide, Bronchiectasis, Respiratory insuffici... |
OMIM:615444 |
Lymphatic Malformation 12 |
|
Recurrent upper and lower respiratory tract infections, Death in adolescence, Pleural thickening,... |
OMIM:620014 |
Deeah Syndrome |
|
Hypohidrosis, Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation tes... |
OMIM:619004 |
Van Esch-O'Driscoll Syndrome |
|
Esophageal atresia, Bifid uvula, Tracheoesophageal fistula, Pulmonary artery stenosis, Hypogonado... |
OMIM:301030 |
Marden-Walker Syndrome |
|
High palate, Pyloric stenosis, Intrauterine growth retardation, Pulmonary hypoplasia, Hypospadias... |
OMIM:248700 |
Severe Acute Respiratory Syndrome |
|
Hypoxemia, Respiratory distress, Dyspnea, Cough, Respiratory failure requiring assisted ventilati... |
ORPHA:140896 |
Ciliary Dyskinesia, Primary, 12 |
|
Decreased nasal nitric oxide, Bronchiectasis, Abnormal central microtubular pair morphology of re... |
OMIM:612650 |
Congenital Muscular Dystrophy With Intellectual Disability |
|
Respiratory insufficiency, Respiratory failure, Cryptorchidism |
ORPHA:370968 |
Delpire-Mcneill Syndrome |
|
Tracheoesophageal fistula, Dysphagia |
OMIM:619083 |
Carney Complex, Type 1 |
|
Thyroid carcinoma, Pituitary adenoma, Pheochromocytoma, Thyroid follicular hyperplasia, Elevated ... |
OMIM:160980 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory failure, Recurrent respiratory infections, Dyspnea, Respiratory distress |
ORPHA:2759 |
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Pulmonary arterial hypertension, Abnormal pulmonary interstitial morphology, Intraalveolar phosph... |
ORPHA:217563 |
Microgastria-Limb Reduction Defect Syndrome |
|
Gastroesophageal reflux, Esophageal atresia, Perineal fistula, Abnormal lung lobation, Anal atres... |
ORPHA:2538 |
Delayed Puberty, Self-Limited |
|
Decreased circulating follicle stimulating hormone concentration, Delayed puberty, Decreased seru... |
OMIM:619613 |
Interstitial Lung Disease 2 |
|
Pulmonary arterial hypertension, Elevated bronchoalveolar lavage fluid neutrophil proportion, Exe... |
OMIM:178500 |
Central Precocious Puberty |
|
Premature thelarche, Isosexual precocious puberty, Increased circulating gonadotropin level, Hypo... |
ORPHA:759 |
Microphthalmia, Syndromic 5 |
|
Ectopic posterior pituitary, Cleft palate, Micropenis, Cryptorchidism |
OMIM:610125 |
Combined Oxidative Phosphorylation Deficiency 28 |
|
Respiratory failure |
OMIM:616794 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Abnormal lung lobation, Pulmonary hypoplasia |
OMIM:263210 |
Treacher-Collins Syndrome |
|
Respiratory insufficiency, Hypoplasia of the thymus, High palate, Multiple enchondromatosis, Hypo... |
ORPHA:861 |
Niemann-Pick Disease, Type C2 |
|
Respiratory insufficiency, Respiratory failure, Death in infancy, Neonatal respiratory distress, ... |
OMIM:607625 |
Fanconi Renotubular Syndrome 5 |
|
Pulmonary fibrosis, Lung adenocarcinoma, Decreased DLCO, Emphysema |
OMIM:618913 |
Pituitary Hormone Deficiency, Combined, 2 |
|
Hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Hypogonadism, A... |
OMIM:262600 |
Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Azoospermia, Abnormality of thalamus morphology, Hypergonadotropic hypogonadism |
OMIM:613724 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Respiratory insufficiency, Respiratory failure, Death in infancy, Neonatal respiratory distress, ... |
OMIM:245400 |
Hypophosphatasia |
|
Respiratory insufficiency, Emphysema |
ORPHA:436 |
Renal Hypodysplasia/Aplasia 1 |
|
Pulmonary hypoplasia |
OMIM:191830 |
Schisis Association |
|
Tracheoesophageal fistula, Cleft palate, Anal atresia |
ORPHA:63862 |
Atelosteogenesis Type I |
|
Laryngotracheal stenosis, Abnormal pancreatic duct morphology, Pulmonary hypoplasia, Cleft palate... |
ORPHA:1190 |
Hereditary Thrombophilia Due To Congenital Antithrombin Deficiency |
|
Pulmonary embolism, Miscarriage |
ORPHA:82 |
Joubert Syndrome 38 |
|
Small pituitary gland, Decreased serum insulin-like growth factor 1, Ectopic posterior pituitary,... |
OMIM:619476 |
Pulmonary Alveolar Microlithiasis |
|
Bronchitis, Respiratory insufficiency, Respiratory tract infection, Respiratory failure, Pneumoth... |
ORPHA:60025 |
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis |
|
Congenital hypothyroidism, Decreased response to growth hormone stimulation test, Tracheal stenos... |
OMIM:601427 |
17Q12 Microduplication Syndrome |
|
Tracheoesophageal fistula, Cleft palate |
ORPHA:261272 |
Prader-Willi Syndrome Due To Translocation |
|
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, High palate... |
ORPHA:177907 |
Jung Syndrome |
|
Hypothyroidism, Recurrent respiratory infections, Tracheal stenosis |
ORPHA:2321 |
Multiple Endocrine Neoplasia, Type Iv |
|
Hypothyroidism, Parathyroid adenoma, Pancreatic endocrine tumor, Pituitary adenoma, Carcinoid tum... |
OMIM:610755 |
Vacterl Association With Hydrocephalus |
|
Respiratory insufficiency, Respiratory failure, Stillbirth |
OMIM:276950 |
Panhypophysitis |
|
Gonadotropin deficiency, Impotence, Decreased female libido, Decreased circulating cortisol level... |
ORPHA:95513 |
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
|
Aplasia/Hypoplasia of the lungs, Abnormal pleura morphology, Abnormality of the diencephalon, Int... |
ORPHA:2570 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Respiratory insufficiency, Respiratory failure |
OMIM:313420 |
Jeune Syndrome |
|
Aplasia/Hypoplasia of the lungs, Respiratory insufficiency |
ORPHA:474 |
Ciliary Dyskinesia, Primary, 35 |
|
Decreased nasal nitric oxide, Bronchiectasis, Productive cough, Nasal polyposis, Chronic sinusiti... |
OMIM:617092 |
Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Increased circulating prolactin concentration, Precocious puberty, Decreased response to growth h... |
ORPHA:91354 |
Isolated Exencephaly |
|
Posterior pituitary agenesis, Anterior pituitary hypoplasia, Maternal diabetes |
ORPHA:563612 |
Caudal Regression Syndrome |
|
Ambiguous genitalia, Maternal diabetes, Hypertension, Pulmonary hypoplasia, Anal atresia, Cryptor... |
ORPHA:3027 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
High palate, Pulmonary hypoplasia, Supernumerary nipple, Pectus excavatum, Cryptorchidism, Cleft ... |
OMIM:612530 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Gastroesophageal reflux, Hypoplasia of the thymus, Death in infancy, Pyloric stenosis, Pulmonary ... |
OMIM:613177 |
Adenohypophysitis |
|
Increased circulating prolactin concentration, Abnormal size of pituitary gland, Gonadotropin def... |
ORPHA:95512 |
X-Linked Acrogigantism |
|
Enlarged pituitary gland, Diabetes insipidus, Increased circulating prolactin concentration, Hypo... |
ORPHA:300373 |
Autosomal Recessive Amelia |
|
Aplasia/Hypoplasia of the lungs |
ORPHA:1027 |
Scimitar Syndrome |
|
Pulmonary arterial hypertension, Pulmonary sequestration, Pneumothorax, Pulmonary hypoplasia, Res... |
ORPHA:185 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Neonatal death, Pulmonary hypoplasia, Respiratory distress |
OMIM:231680 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Morphological abnormality of the gastrointestinal tract, High palate, Hypogonadism, Absence of la... |
ORPHA:2990 |
Ciliary Dyskinesia, Primary, 38 |
|
Rhinitis, Decreased nasal nitric oxide, Bronchiectasis, Productive cough, Immotile cilia, Absent ... |
OMIM:618063 |
Prune Belly Syndrome |
|
Decreased fertility, Urogenital sinus anomaly, Decreased testicular size, Volvulus, Aplasia/Hypop... |
ORPHA:2970 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Neonatal respiratory distress, Pulmonary hypoplasia |
OMIM:616866 |
Fanconi Anemia |
|
Abnormal testis morphology, Hypertrophic cardiomyopathy, Cleft palate, Aplasia/Hypoplasia of the ... |
ORPHA:84 |
Charge Syndrome |
|
Hypothyroidism, Gonadotropin deficiency, Parathyroid hypoplasia, Hypoparathyroidism, Dysphagia, C... |
OMIM:214800 |
Non-Functioning Pituitary Adenoma |
|
Hypotension, Impotence, Anterior hypopituitarism, Adrenal insufficiency, Decreased female libido,... |
ORPHA:91349 |
Tsh-Secreting Pituitary Adenoma |
|
Enlarged pituitary gland, Hypotension, Impotence, Decreased female libido, Ventricular arrhythmia... |
ORPHA:91347 |
Microphthalmia, Syndromic 11 |
|
Agenesis of pineal gland |
OMIM:614402 |
Antithrombin Iii Deficiency |
|
Pulmonary embolism, Arterial occlusion |
OMIM:613118 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Respiratory insufficiency, Pulmonary hypoplasia, Miscarriage, Cryptorchidism, Cleft palate |
ORPHA:1865 |
Pulmonary Venoocclusive Disease 1, Autosomal Dominant |
|
Pulmonary arterial hypertension, Elevated jugular venous pressure, Abnormally loud pulmonic compo... |
OMIM:265450 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
Gastroesophageal reflux, Anterior pituitary hypoplasia, Elevated circulating thyroid-stimulating ... |
OMIM:613457 |
Charge Syndrome |
|
Respiratory insufficiency, Gastroesophageal reflux, Bifid scrotum, Anterior hypopituitarism, Labi... |
ORPHA:138 |
Hyperekplexia 4 |
|
Respiratory failure |
OMIM:618011 |
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Respiratory failure |
OMIM:613435 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Macroorchidism, Abnormality of female external genitalia, Increased circulating ACTH level, Decre... |
ORPHA:90790 |
Bronchogenic Cyst |
|
Abnormal pleura morphology, Pneumonia, Dyspnea, Cough, Bronchogenic cyst, Pulmonary cyst, Atelect... |
ORPHA:2357 |
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
|
Congenital hypothyroidism, Thyroid hypoplasia |
ORPHA:521445 |
Snakebite Envenomation |
|
Epistaxis, Respiratory failure, Hypopituitarism, Respiratory paralysis |
ORPHA:449285 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Pulmonary hypoplasia, Stillbirth, Respiratory distress |
OMIM:151210 |
Hypothyroidism, Congenital, Nongoitrous, 4 |
|
Hypothyroidism, Decreased thyroid-stimulating hormone level, Decreased circulating T4 concentration |
OMIM:275100 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Pulmonary hypoplasia |
ORPHA:3035 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Pulmonary hypoplasia, Pleural effusion, Hypertrophic cardiomyopathy, Hypospadias, Intrauterine gr... |
OMIM:616897 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory insufficiency, Respiratory tract infection, Respiratory distress, Respiratory failure... |
ORPHA:308552 |
Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Respiratory failure, Death in infancy |
OMIM:618240 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Abnormality of the anterior pituitary, Posterior pituitary hypoplasia, Pulmonary artery stenosis,... |
ORPHA:75389 |
Multiple Pterygium Syndrome, X-Linked |
|
Pulmonary hypoplasia |
OMIM:312150 |
Hepatic Veno-Occlusive Disease |
|
Respiratory failure |
ORPHA:890 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
High palate, Bifid scrotum, Pyloric stenosis, Penoscrotal transposition, Anal atresia, Pulmonary ... |
OMIM:619148 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hypothyroidism, Pulmonary embolism, Malabsorption, Abnormal intestine morphology, Intestinal obst... |
OMIM:226300 |
Platyspondylic Dysplasia, Torrance Type |
|
Pulmonary hypoplasia |
ORPHA:85166 |
Meacham Syndrome |
|
Cardiac total anomalous pulmonary venous connection, Death in infancy, Congenital alveolar dyspla... |
OMIM:608978 |
Congenital Neuronal Ceroid Lipofuscinosis |
|
Neonatal respiratory distress, Central sleep apnea, Apnea, Respiratory failure |
ORPHA:168486 |
Microphthalmia, Syndromic 3 |
|
Anterior pituitary hypoplasia, Esophageal atresia, Hypospadias, Cryptorchidism, Hypogonadotropic ... |
OMIM:206900 |
Multiple Endocrine Neoplasia, Type Iia |
|
Parathyroid adenoma, Increased circulating cortisol level, Pheochromocytoma, Elevated calcitonin,... |
OMIM:171400 |
Pulmonary Venoocclusive Disease 2, Autosomal Recessive |
|
Pulmonary arterial hypertension, Pulmonary capillary hemangiomatosis, Dyspnea, Cough, Pulmonary v... |
OMIM:234810 |
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2 |
|
Decreased thalamic volume |
OMIM:618646 |
Genitopatellar Syndrome |
|
Gastroesophageal reflux, Pulmonary hypoplasia, Apnea, Cryptorchidism, Small scrotum, Clitoral hyp... |
ORPHA:85201 |
Tracheoesophageal Fistula With Or Without Esophageal Atresia |
|
Tracheoesophageal fistula, Esophageal atresia |
OMIM:189960 |
48,Xxxy Syndrome |
|
Gastroesophageal reflux, Pulmonary embolism, Hypogonadism, Decreased testicular size, Type II dia... |
ORPHA:96263 |
Cowden Syndrome 5 |
|
Hypothyroidism, Hyperthyroidism, Thyroiditis, Hydrocele testis, Ovarian cyst, Thyroid adenoma, Go... |
OMIM:615108 |
Thymic Neuroendocrine Tumor |
|
Increased circulating prolactin concentration, Neoplasm of the thymus, Neoplasm of the endocrine ... |
ORPHA:97289 |
Teebi Hypertelorism Syndrome 1 |
|
Bicornuate uterus, Pulmonary hypoplasia, Hydrocele testis, Shawl scrotum |
OMIM:145420 |
Diaphanospondylodysostosis |
|
Respiratory insufficiency, Tracheomalacia, Pulmonary hypoplasia, Respiratory distress |
OMIM:608022 |
Mercury Poisoning |
|
Respiratory failure, Interstitial pneumonitis, Dyspnea, Respiratory distress |
ORPHA:330021 |
Fryns Syndrome |
|
Gastroesophageal reflux, High palate, Ectopic anus, Bicornuate uterus, Aganglionic megacolon, Ana... |
ORPHA:2059 |
Ciliary Dyskinesia, Primary, 43 |
|
Bronchiectasis, Productive cough, Chronic sinusitis, Chronic rhinitis, Recurrent upper respirator... |
OMIM:618699 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Bronchiolitis, Pulmonary fibrosis, Exertional dyspnea, Atelectasis |
ORPHA:254361 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Esophageal atresia, Submucous cleft hard palate, Pectus excavatum, Tracheoesophageal fistula, Duo... |
OMIM:619227 |
Tetrasomy 5P |
|
Pulmonary arterial hypertension, High palate, Heart murmur, Pulmonary hypoplasia, Respiratory dis... |
ORPHA:3309 |
Multiple Pterygium Syndrome, Lethal Type |
|
Pulmonary hypoplasia |
OMIM:253290 |
Congenital Contractural Arachnodactyly |
|
Tracheoesophageal fistula, Intestinal malrotation, High palate, Duodenal atresia |
ORPHA:115 |
Thrombophilia Due To Protein C Deficiency, Autosomal Dominant |
|
Pulmonary embolism |
OMIM:176860 |
Thrombophilia Due To Thrombomodulin Defect |
|
Pulmonary embolism |
OMIM:614486 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Respiratory insufficiency, Death in infancy, Aplasia/Hypoplasia of the lungs, Abnormal lung lobat... |
ORPHA:1120 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Pancreatic cysts, Pulmonary hypoplasia, Hypertension, Hematemesis, Esophageal varix, Portal hyper... |
OMIM:263200 |
Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
Eye Defects-Arachnodactyly-Cardiopathy Syndrome |
|
Aplasia/Hypoplasia of the lungs |
ORPHA:2725 |
49,Xxxxy Syndrome |
|
Gastroesophageal reflux, Pulmonary embolism, Hypogonadism, Decreased testicular size, Type II dia... |
ORPHA:96264 |
Williams Syndrome |
|
Sudden cardiac death, Hypothyroidism, Peptic ulcer, Precocious puberty, Colonic diverticula, Func... |
ORPHA:904 |
Microphthalmia, Syndromic 9 |
|
Respiratory insufficiency, Agenesis of pulmonary vessels, Bilateral lung agenesis, Bicornuate ute... |
OMIM:601186 |
Primary Pigmented Nodular Adrenocortical Disease |
|
Irregular menstruation, Increased circulating cortisol level, Type II diabetes mellitus, Decrease... |
ORPHA:189439 |
Thrombophilia, X-Linked, Due To Factor Viii Defect |
|
Pulmonary embolism |
OMIM:301071 |
Autosomal Recessive Spastic Paraplegia Type 11 |
|
Hypothalamic atrophy, Orthostatic hypotension, Dysphagia |
ORPHA:2822 |
Phocomelia, Schinzel Type |
|
Hypoplasia of penis, Anal atresia, Tracheoesophageal fistula, Aplasia of the uterus, Cryptorchidi... |
ORPHA:2879 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Respiratory failure, Paroxysmal dyspnea, Abnormal thalamic MRI signal intensity, Stridor |
ORPHA:444013 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Hyperhidrosis, Aspiration pneumonia, Episodic tachypnea, Apnea, Focal T2 hyperintense thalamic le... |
ORPHA:79264 |
Laryngotracheoesophageal Cleft |
|
Aspiration, Cough, Dyspnea, Stridor, Neonatal respiratory distress, Recurrent respiratory infections |
ORPHA:2004 |
Fanconi Anemia, Complementation Group D2 |
|
Esophageal atresia, Tracheoesophageal fistula, Hypergonadotropic hypogonadism, Cryptorchidism, An... |
OMIM:227646 |
Bilateral Perisylvian Polymicrogyria |
|
Gastroesophageal reflux, Aspiration, Pseudobulbar paralysis, Pectus excavatum, Ectopic posterior ... |
ORPHA:98889 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
High palate, Macroglossia, Pulmonary hypoplasia, Hypospadias, Protruding tongue, Cryptorchidism, ... |
OMIM:214100 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Pulmonary edema, Hypoxemia, Pleural effusion, Respiratory failure, Tachypnea |
ORPHA:542323 |
Myotubular Myopathy With Abnormal Genital Development |
|
Penile hypospadias, High palate, Death in infancy, Bifid scrotum, Bilateral cryptorchidism, Ambig... |
OMIM:300219 |
Joubert Syndrome 21 |
|
Apnea, Dyspnea, Pulmonary hypoplasia |
OMIM:615636 |
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Hypothyroidism, Thyroid hypoplasia, Cryptorchidism, Thyroid agenesis, Thyroid dysgenesis, Ectopic... |
ORPHA:3047 |
Distal Tetrasomy 15Q |
|
High palate, Pulmonary hypoplasia, Hydrocele testis, Abnormal external genitalia, Intrauterine gr... |
ORPHA:314588 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Hypothyroidism, Hashimoto thyroiditis, Goiter |
ORPHA:83601 |
Lethal Congenital Contracture Syndrome 10 |
|
High palate, Hypoplasia of the thymus, Narrow palate, Pulmonary hypoplasia, Macroglossia, Intraut... |
OMIM:617022 |
Verloove Vanhorick-Brubakk Syndrome |
|
Aplasia/Hypoplasia of the lungs, Abnormality of the parathyroid gland, Cleft palate, Cryptorchidism |
ORPHA:3429 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Respiratory failure, Dyspnea, Hypergonadotropic hypogonadism, Respiratory insufficiency due to mu... |
ORPHA:352447 |
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency |
|
Adrenogenital syndrome, Ambiguous genitalia, Hypertension, Adrenal hyperplasia, Male pseudohermap... |
OMIM:202110 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Respiratory failure, Recurrent respiratory infections |
ORPHA:3226 |
Cowden Syndrome 6 |
|
Hypothyroidism, Hyperthyroidism, Thyroiditis, Hydrocele testis, Ovarian cyst, Thyroid adenoma, Go... |
OMIM:615109 |
Short-Rib Thoracic Dysplasia 12 |
|
Respiratory insufficiency, Lobulated tongue, Ambiguous genitalia, Neonatal death, Pulmonary hypop... |
OMIM:269860 |
Thyroid Ectopia |
|
Hypothyroidism, Ectopic thyroid, Abnormality of the thyroid gland |
ORPHA:95712 |
8Q24.3 Microdeletion Syndrome |
|
Gastroesophageal reflux, Abnormal lung lobation, Respiratory distress, Pectus excavatum, Ectopic ... |
ORPHA:508488 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Gastroesophageal reflux, Anterior pituitary hypoplasia, Pyloric stenosis, Intrauterine growth ret... |
ORPHA:464306 |
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy |
|
Precocious puberty, Hyperthyroidism, Abnormal testis morphology, Neoplasm of the thyroid gland, P... |
ORPHA:457059 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Morphological abnormality of the gastrointestinal tract, Intestinal perforation, Retinal hemorrha... |
ORPHA:464321 |
Poems Syndrome |
|
Pulmonary arterial hypertension, Hypothyroidism, Increased circulating prolactin concentration, H... |
ORPHA:2905 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Respiratory insufficiency, Lobulated tongue, Ambiguous genitalia, Bifid tongue, Anal atresia, Pul... |
OMIM:616300 |
Familial Hyperaldosteronism Type I |
|
Hypertension, Abnormal circulating renin, Adrenal hyperplasia, Secretory adrenocortical adenoma, ... |
ORPHA:403 |
Familial Hyperaldosteronism Type Ii |
|
Glucocortocoid-insensitive primary hyperaldosteronism, Hypertension, Abnormal circulating renin, ... |
ORPHA:404 |
Diffuse Alveolar Hemorrhage |
|
Hypoxemia, Airway obstruction, Irregular septal thickening on pulmonary HRCT, Restrictive ventila... |
ORPHA:90060 |
Lymphoid Interstitial Pneumonia |
|
Respiratory tract infection, Subpleural interstitial thickening, Bronchiectasis, Raynaud phenomen... |
ORPHA:79128 |
Proximal Spinal Muscular Atrophy |
|
Respiratory failure, Hypoventilation, Recurrent aspiration pneumonia, Recurrent infections due to... |
ORPHA:70 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Adrenogenital syndrome, Hypospadias, Hypertension, Adrenal hyperplasia |
OMIM:201910 |
Thrombophilia Due To Thrombin Defect |
|
Pulmonary embolism |
OMIM:188050 |
Kagami-Ogata Syndrome |
|
Pulmonary arterial hypertension, Pulmonary hypoplasia |
OMIM:608149 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory insufficiency, Death in infancy, Respiratory distress, Respiratory failure, Tachypnea |
OMIM:614299 |
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome |
|
Pulmonary hypoplasia |
ORPHA:86822 |
Achondroplasia |
|
Respiratory distress, Upper airway obstruction, Pulmonary hypoplasia, Death in infancy |
OMIM:100800 |
Lipoid Congenital Adrenal Hyperplasia |
|
Adrenogenital syndrome, Hypospadias, Congenital adrenal hyperplasia |
OMIM:201710 |
46,Xx Disorder Of Sex Development-Anorectal Anomalies Syndrome |
|
Respiratory insufficiency, Urogenital sinus anomaly, Anal atresia, Intestinal malrotation, Trache... |
ORPHA:2973 |
Immunodeficiency 89 And Autoimmunity |
|
Bronchiectasis, Asthma, Pulmonary bulla, Decreased eosinophil count, Pleural thickening, Recurren... |
OMIM:619632 |
Achondrogenesis |
|
Aplasia/Hypoplasia of the lungs |
ORPHA:932 |
Gaucher Disease, Perinatal Lethal |
|
Apnea, Neonatal death, Pulmonary hypoplasia, Respiratory distress |
OMIM:608013 |
Microcephaly-Micromelia Syndrome |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:251230 |
Meier-Gorlin Syndrome 7 |
|
High palate, Clitoral hypertrophy, Urethral stricture, Breast aplasia, Duodenal stenosis, Anal at... |
OMIM:617063 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Anomalous origin of left pulmonary artery from ascending aorta, Pulmonary arterial hypertension, ... |
ORPHA:99050 |
Bdv Syndrome |
|
Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Hyperin... |
OMIM:619326 |
Klippel-Trénaunay Syndrome |
|
Respiratory insufficiency, Pulmonary embolism, Abnormality of the menstrual cycle, Abnormality of... |
ORPHA:90308 |
Congenital Myopathy 17 |
|
Respiratory insufficiency, Respiratory tract infection, Pulmonary hypoplasia |
OMIM:618975 |
Neurodevelopmental Disorder With Language Delay And Seizures |
|
Hypothyroidism, Hypothalamic hamartoma, Cryptorchidism |
OMIM:619908 |
Meckel Syndrome, Type 6 |
|
Absent gallbladder, Pulmonary hypoplasia, Bilobed right lung, Bile duct proliferation, Cleft pala... |
OMIM:612284 |
Neuromyelitis Optica Spectrum Disorder |
|
Respiratory failure |
ORPHA:71211 |
Ciliary Dyskinesia, Primary, 1 |
|
Bronchiectasis, Immotile cilia, Recurrent bronchitis, Nasal polyposis, Chronic sinusitis, Chronic... |
OMIM:244400 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Interstitial emphysema, Pulmonary hypoplasia, Bronchiectasis |
OMIM:619708 |
Orofaciodigital Syndrome Type 4 |
|
Recurrent respiratory infections, Bilateral lung agenesis, Decreased testicular size, Rectovagina... |
ORPHA:2753 |
Craniosynostosis 4 |
|
Ectopic posterior pituitary |
OMIM:600775 |
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Increased circulating ACTH level, Ambiguous genitalia, Congenital adrenal hyperplasia |
OMIM:613571 |
Pagod Syndrome |
|
Sudden cardiac death, Ambiguous genitalia, Abnormal testis morphology, Death in infancy, Abnormal... |
ORPHA:991 |
Feingold Syndrome 1 |
|
High palate, Jejunal atresia, Gastrointestinal atresia, Esophageal atresia, Tracheoesophageal fis... |
OMIM:164280 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Respiratory insufficiency, Pulmonary arterial hypertension, Death in infancy, Respiratory failure... |
OMIM:605711 |
Thakker-Donnai Syndrome |
|
Tracheoesophageal fistula, Rectovaginal fistula, Anal atresia, Intrauterine growth retardation |
ORPHA:1780 |
Hydrolethalus Syndrome 1 |
|
Abnormal lung lobation, Tracheal stenosis, Bifid uterus, Hypospadias, Adrenal gland dysgenesis, S... |
OMIM:236680 |
Tarp Syndrome |
|
Tongue nodules, Abnormal duodenum morphology, Intrauterine growth retardation, Pulmonary hypoplas... |
ORPHA:2886 |
Peripartum Cardiomyopathy |
|
Pulmonary arterial hypertension, Exertional dyspnea, Abnormality of thyroid physiology, Asthma, D... |
ORPHA:563 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Recurrent pneumonia, Recurrent bronchopulmonary infections, Bronchiectasis, Emphysema |
OMIM:242700 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Exertional dyspnea, Restrictive ventilatory defect, Orthopnea, Reduced vital capacity, Respirator... |
ORPHA:98913 |
Coasy Protein-Associated Neurodegeneration |
|
Abnormality of thalamus morphology |
ORPHA:397725 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Pulmonary arterial hypertension, Hyperaldosteronism, Intracranial hemorrhage, Adrenal hyperplasia... |
ORPHA:369929 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Anterior pituitary hypoplasia, Anteriorly placed anus, Hypospadias, Microglossia, Cryptorchidism,... |
OMIM:151050 |
14Q22Q23 Microdeletion Syndrome |
|
Small scrotum, Diabetes insipidus, Anterior pituitary hypoplasia, Cryptorchidism, Abnormality of ... |
ORPHA:264200 |
Ulnar-Mammary Syndrome |
|
Anterior pituitary hypoplasia, Imperforate hymen, Shawl scrotum, Bicornuate uterus, Pyloric steno... |
OMIM:181450 |
Mitochondrial Complex I Deficiency, Nuclear Type 10 |
|
Apnea, Sleep apnea, Respiratory failure, Central hypoventilation |
OMIM:618233 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Respiratory failure, Pneumonia, Abnormal respiratory system physiology, Recurrent respiratory inf... |
ORPHA:98905 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Ambiguous genitalia, Decreased circulating dehydroepiandrosterone-sulfate concentration, Decrease... |
ORPHA:95699 |
Riddle Syndrome |
|
Bronchitis, Abnormal pulmonary interstitial morphology, Recurrent sinusitis, Chronic sinusitis, R... |
ORPHA:420741 |
Multiple Endocrine Neoplasia Type 1 |
|
Pituitary thyrotropic cell adenoma, Peptic ulcer, Pituitary corticotropic cell adenoma, Impotence... |
ORPHA:652 |
Alstrom Syndrome |
|
Irregular menstruation, Hypothyroidism, Hyperinsulinemia, Diabetes insipidus, D |