Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Esophageal Cancer |
|
Esophageal carcinoma |
OMIM:133239 |
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
|
Joint stiffness, Posterior fusion of lumbosacral vertebrae, Abnormal form of the vertebral bodies... |
ORPHA:2064 |
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis |
|
Posterior fusion of lumbosacral vertebrae |
OMIM:192800 |
Female Infertility Due To Oocyte Meiotic Arrest |
|
Oocyte arrest at metaphase I, Female infertility, Abnormal meiosis |
ORPHA:488191 |
Oocyte Maturation Defect 4 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:617743 |
Oocyte Maturation Defect 2 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:616780 |
Multiple Synostoses Syndrome 2 |
|
Carpal synostosis, Vertebral fusion, Brachydactyly, Proximal symphalangism, Tarsal synostosis, Hu... |
OMIM:610017 |
Microcephaly With Cervical Spine Fusion Anomalies |
|
Vertebral fusion, Spinal instability |
OMIM:251250 |
Second Metatarsal-Metacarpal Syndrome |
|
Abnormal metacarpal morphology, Platyspondyly, Synostosis of carpals/tarsals |
OMIM:269630 |
Spondylocostal Dysostosis 5 |
|
Butterfly vertebrae, Hemivertebrae, Short neck, Scoliosis, Posterior rib fusion, Low back pain, M... |
OMIM:122600 |
Premature Ovarian Failure 2A |
|
Secondary amenorrhea, Premature ovarian insufficiency |
OMIM:300511 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Vertebral segmentation defect, Rib fusion, Kyphoscoliosis, Back pain, Hemivertebrae, Short neck, ... |
OMIM:277300 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral segmentation defect, Rib fusion, Hemivertebrae, Spina bifida occulta, Abnormal rib morp... |
OMIM:613686 |
Odontoma-Dysphagia Syndrome |
|
Dysphagia, Abnormal esophagus morphology |
OMIM:164330 |
Premature Ovarian Failure 19 |
|
Irregular menstruation, Secondary amenorrhea, Female infertility, Premature ovarian insufficiency |
OMIM:619245 |
Pulmonary Blastoma |
|
Pleuropulmonary blastoma, Cough, Recurrent pneumonia, Dyspnea, Weight loss |
ORPHA:64741 |
Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Aspiration pneumonia, Upper airway obstruction, Dyspnea, Weight loss |
ORPHA:141152 |
Klippel-Feil Syndrome 3, Autosomal Dominant |
|
Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion, Thoracic scoliosis |
OMIM:613702 |
Bronchopulmonary Dysplasia |
|
Respiratory distress, Pulmonary sequestration, Hyperoxemia, Small for gestational age, Abnormal r... |
ORPHA:70589 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Flexion contracture, Fused thoracic vertebrae, Short neck, Scoliosis, Fused cervical vertebrae, T... |
OMIM:618469 |
Oocyte Maturation Defect 11 |
|
Female infertility |
OMIM:619643 |
Oocyte Maturation Defect 7 |
|
Female infertility |
OMIM:618550 |
Oocyte Maturation Defect 6 |
|
Female infertility |
OMIM:618353 |
Preimplantation Embryonic Lethality 1 |
|
Female infertility |
OMIM:616814 |
Progesterone Resistance |
|
Female infertility |
OMIM:264080 |
Oocyte Maturation Defect 1 |
|
Female infertility |
OMIM:615774 |
Premature Ovarian Failure 15 |
|
Oligomenorrhea |
OMIM:618096 |
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Brachydactyly, Scoliosis, Fused cervical vertebrae, Short middle phalanx of finger, Abnormal sacr... |
ORPHA:1436 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Failure to thrive, Desquamative interstitial pneumonitis, Recurrent upper r... |
OMIM:263000 |
Brachydactyly, Type B1 |
|
Joint contracture of the hand, Hypoplastic sacrum, Hemivertebrae, Delayed cranial suture closure,... |
OMIM:113000 |
Symbrachydactyly Of Hands And Feet |
|
Vertebral segmentation defect, Abnormality of the humeroulnar joint, Abnormal morphology of ulna,... |
ORPHA:1570 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Apnea, Absent bronchoalveolar surfactant-protein C, Desquamative interstiti... |
OMIM:610921 |
Pleural Mesothelioma |
|
Respiratory distress, Abnormal respiratory system physiology, Abnormal pleura morphology, Cough, ... |
ORPHA:50251 |
Spondylocostal Dysostosis 6, Autosomal Recessive |
|
Spinal canal stenosis, Butterfly vertebrae, Hemivertebrae, Scoliosis, Cervical kyphosis |
OMIM:616566 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Vertebral segmentation defect, Kyphosis, Supernumerary vertebral ossification centers, Rib fusion... |
OMIM:609813 |
Dextrocardia With Unusual Facies And Microphthalmia |
|
Vertebral segmentation defect, Supernumerary ribs, Vertebral fusion |
OMIM:221950 |
Diaphanospondylodysostosis |
|
Abnormal vertebral segmentation and fusion, Short neck, Absent or minimally ossified vertebral bo... |
ORPHA:66637 |
Acrodysplasia Scoliosis |
|
Vertebral segmentation defect, Brachydactyly, Scoliosis, Spina bifida occulta |
ORPHA:2956 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
Tracheopathia Osteoplastica |
|
Dyspnea, Wheezing, Recurrent pneumonia, Cough |
OMIM:189961 |
Immunodeficiency 95 |
|
Respiratory distress, Recurrent viral upper respiratory tract infections, Recurrent viral pneumon... |
OMIM:619773 |
Emphysema, Congenital Lobar |
|
Respiratory distress |
OMIM:130710 |
Muscular Hypertonia, Lethal |
|
Respiratory distress, Umbilical hernia, Pneumonia |
OMIM:254120 |
Hypomyelination Neuropathy-Arthrogryposis Syndrome |
|
Respiratory distress |
ORPHA:2680 |
Recurrent Respiratory Papillomatosis |
|
Respiratory distress, Failure to thrive, Tracheomalacia, Nonproductive cough, Recurrent upper res... |
ORPHA:60032 |
Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Vertebral segmentation defect, Rib fusion, Vertebral clefting, Hemivertebrae, Short neck |
OMIM:608681 |
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
|
Prominent metopic ridge, Scoliosis, Fused cervical vertebrae, Short middle phalanx of finger, Tho... |
OMIM:309620 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Absent bronchoalveolar surfactant-protein C, Desquamative interstitial pneu... |
OMIM:610913 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Crazy paving pattern, Respiratory distress, Crackles, Acute infectious pneumonia, Tachypnea, Resp... |
ORPHA:264675 |
Tracheoesophageal Fistula With Or Without Esophageal Atresia |
|
Tracheoesophageal fistula, Esophageal atresia |
OMIM:189960 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Respiratory distress, Failure to thrive |
OMIM:615595 |
Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
Gastroesophageal Reflux |
|
Esophagitis, Esophageal neoplasm, Gastroesophageal reflux, Barrett esophagus |
OMIM:109350 |
Otopalatodigital Syndrome Type 1 |
|
Short distal phalanx of finger, Increased bone mineral density, Abnormal vertebral segmentation a... |
ORPHA:90650 |
Bardet-Biedl Syndrome 16 |
|
Bronchiolitis, Obesity, Respiratory distress, Recurrent respiratory infections |
OMIM:615993 |
Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Neonatal death |
OMIM:226735 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive |
|
Respiratory distress, Failure to thrive, Lymphocytic interstitial pneumonia |
OMIM:245590 |
Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Reduced forced expiratory volume in one second, Airway obstruction, Reduced FEV1/FVC ratio, Bronc... |
ORPHA:1303 |
Isolated Klippel-Feil Syndrome |
|
Cervical C2/C3 vertebral fusion, Abnormal vertebral segmentation and fusion, Abnormality of the v... |
ORPHA:2345 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Reduced FEV1/FVC ratio, Chronic pulmonary obstruction, Chronic bronchitis, Hypoxemia, Nonproducti... |
ORPHA:79127 |
Barrett Esophagus |
|
Esophageal ulceration, Gastroesophageal reflux, Esophageal carcinoma, Barrett esophagus |
OMIM:614266 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Carpal synostosis, Hip contracture, Multiple pterygia, Spondylolisthesis, Craniosynostosis, Hemiv... |
OMIM:178110 |
Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Pulmonary edema, Tachypnea, Neonatal respiratory distress, Dyspnea |
OMIM:267450 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Vertebral segmentation defect, Vertebral fusion, Short long bone, Sacral dimple |
OMIM:618845 |
Keratoconus Posticus Circumscriptus |
|
Clinodactyly of the 5th finger, Abnormal vertebral segmentation and fusion, Short neck, Brachydac... |
OMIM:244600 |
Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Hypoxemia, Nonproductive cough, Crackles, Wheezing, Cough, Restrictive vent... |
ORPHA:1302 |
Idiopathic Bronchiectasis |
|
Reduced FEV1/FVC ratio, Cachexia, Crackles, Acute infectious pneumonia, Wheezing, Recurrent lower... |
ORPHA:60033 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Respiratory distress, Chronic pulmonary obstruction, Crackles, Cough, Pneumothorax, Pleural effus... |
ORPHA:411703 |
Mesomelic Dysplasia, Kantaputra Type |
|
Vertebral segmentation defect, Clinodactyly of the 5th finger, Camptodactyly of finger, Abnormali... |
ORPHA:1836 |
Interstitial Lung Disease 2 |
|
Alveolar cell carcinoma, Cough, Decreased DLCO, Usual interstitial pneumonia, Dyspnea, Exertional... |
OMIM:178500 |
Stuve-Wiedemann Syndrome 2 |
|
Respiratory distress, Stillbirth, Neonatal death, Pulmonary arterial hypertension, Intrauterine g... |
OMIM:619751 |
Congenital Lobar Emphysema |
|
Respiratory distress, Emphysema |
ORPHA:1928 |
Severe Acute Respiratory Syndrome |
|
Respiratory distress, Chronic lung disease, Acute infectious pneumonia, Respiratory failure requi... |
ORPHA:140896 |
Chronic Pneumonitis Of Infancy |
|
Respiratory distress, Failure to thrive, Cough, Tachypnea, Intercostal retractions, Reduced force... |
ORPHA:91359 |
Verheij Syndrome |
|
Hemivertebrae, Short neck, Scoliosis, Short 5th finger, Clinodactyly, Hip dislocation, Vertebral ... |
OMIM:615583 |
Interstitial Lung Disease 1 |
|
Interlobular septal thickening, Crackles, Cough, Decreased DLCO, Intralobular septal thickening, ... |
OMIM:619611 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Bronchiectasis, Abnormal mucociliary clearance, Respiratory distress, Recurrent respiratory infec... |
OMIM:619466 |
Laryngotracheal Angioma |
|
Respiratory distress, Apnea, Wheezing, Cough, Intercostal retractions, Stridor |
ORPHA:137935 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Respiratory distress, Decreased body weight, Respiratory insufficiency due to muscle weakness |
OMIM:300580 |
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Respiratory distress |
ORPHA:171703 |
Fibrodysplasia Ossificans Progressiva |
|
Clinodactyly of the 5th finger, Ectopic ossification in tendon tissue, Short 1st metacarpal, Meta... |
OMIM:135100 |
Sprengel Deformity |
|
Hemivertebrae, Scoliosis, Spina bifida occulta, Cervical segmentation defect, Rib segmentation ab... |
OMIM:184400 |
Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Dyspnea, Intrauterine growth retardation, Respiratory failure |
ORPHA:1832 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Corner fracture of metaphysis, Platyspondyly, Short neck, Biconcave vertebral bodies, Upper limb ... |
ORPHA:93315 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Interlobular septal thickening, Failure to thrive, Apnea, Desquamative interstitial pneumonitis, ... |
OMIM:265120 |
Perching Syndrome |
|
Respiratory distress |
OMIM:617055 |
Gaucher Disease Type 2 |
|
Respiratory distress, Abnormal pattern of respiration, Recurrent respiratory infections, Cough |
ORPHA:77260 |
Portal Hypertension, Noncirrhotic, 1 |
|
Hepatomegaly, Esophageal varix, Splenomegaly |
OMIM:617068 |
Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... |
OMIM:254210 |
Polydactyly, Postaxial, With Dental And Vertebral Anomalies |
|
Spinal canal stenosis, Kyphoscoliosis, Hypoplastic vertebral bodies, Clinodactyly of the 5th fing... |
OMIM:263540 |
Laryngeal Web, Familial |
|
Respiratory distress, Recurrent upper respiratory tract infections, Stridor |
OMIM:150360 |
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset |
|
Respiratory distress, Failure to thrive, Respiratory insufficiency, Restrictive ventilatory defec... |
OMIM:614399 |
Chronic Beryllium Disease |
|
Reduced FEV1/FVC ratio, Lymphocytic interstitial pneumonia, Respiratory insufficiency, Cough, Ret... |
ORPHA:133 |
Succinic Acidemia |
|
Respiratory distress |
OMIM:600335 |
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Cervical vertebral bodies with decreased anteroposterior diameter, Fusion of midcervical facet jo... |
OMIM:606842 |
Familial Nasal Acilia |
|
Respiratory distress, Recurrent upper respiratory tract infections, Chronic rhinitis, Chronic sin... |
ORPHA:922 |
Kniest Dysplasia |
|
Enlarged joints, Flexion contracture of finger, Platyspondyly, Short neck, Dumbbell-shaped long b... |
ORPHA:485 |
Visceral Myopathy 2 |
|
Gastroesophageal reflux, Hiatus hernia, Barrett esophagus, Intestinal malrotation, Necrotizing en... |
OMIM:619350 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Kyphosis, Hypoplastic vertebral bodies, Clinodactyly of the 5th finger, Hemivertebrae, Scoliosis,... |
ORPHA:2916 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Failure to thrive, Intrauterine growth retardation |
ORPHA:26792 |
Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... |
OMIM:605809 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Cervical C2/C3 vertebral fusion, Fused cervical vertebrae, Short neck, Scoliosis |
OMIM:214300 |
Kbg Syndrome |
|
Vertebral fusion, Cutaneous syndactyly, Short neck, Scoliosis, Finger clinodactyly, Thoracic kyph... |
ORPHA:2332 |
Pulmonary Venoocclusive Disease 2, Autosomal Recessive |
|
Pulmonary venous occlusion, Decreased DLCO, Cough, Dyspnea, Pulmonary arterial hypertension, Pulm... |
OMIM:234810 |
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Cervical C2/C3 vertebral fusion, Short distal phalanx of finger, Short distal phalanx of the thum... |
ORPHA:370010 |
Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Pulmonary hemorrhage, Hemosiderin-laden macrophages in bronchoalveolar fluid, Abnormal pulmonary ... |
OMIM:616414 |
Multiple Pterygium Syndrome, X-Linked |
|
Multiple pterygia, Joint dislocation, Flexion contracture, Thin ribs, Abnormal cervical curvature... |
OMIM:312150 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory distress, Respiratory insufficiency, Recurrent pneumonia, Ventilator dependence with ... |
ORPHA:254875 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neonatal death |
OMIM:257100 |
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia |
|
Failure to thrive, Eosinophilic microabscess formation in the esophagus, Gastroesophageal reflux,... |
ORPHA:411696 |
Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Cervical C2/C3 vertebral fusion, Abnormal vertebral segmentation and fusion, Short neck, Scoliosi... |
OMIM:118100 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Respiratory distress, Failure to thrive |
ORPHA:91130 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Respiratory distress, Pulmonary hypoplasia, Intrauterine growth retardation, Small for gestationa... |
OMIM:616733 |
Chromosome 8Q22.1 Duplication Syndrome |
|
Cervical C2/C3 vertebral fusion, Joint stiffness, Broad metacarpals, Short metatarsal, Genu recur... |
OMIM:151200 |
Anaplastic Thyroid Carcinoma |
|
Respiratory distress, Neoplasm of the lung, Cough, Upper airway obstruction, Dyspnea, Weight loss... |
ORPHA:142 |
Developmental And Epileptic Encephalopathy 30 |
|
Respiratory distress |
OMIM:616341 |
Multiple Pterygium Syndrome, Lethal Type |
|
Multiple pterygia, Joint dislocation, Flexion contracture, Thin ribs, Abnormal cervical curvature... |
OMIM:253290 |
Laryngomalacia |
|
Respiratory distress, Congenital laryngeal stridor |
OMIM:150280 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Respiratory distress |
OMIM:619099 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Aplasia/Hypoplasia of the thumb, Anterior vertebral fusion, Absent radius, Short humerus, Shoulde... |
OMIM:171480 |
Ring Chromosome 21 Syndrome |
|
Fused thoracic vertebrae, Small hand, Scoliosis, Syndactyly, Clinodactyly, Thoracic hemivertebrae |
ORPHA:1445 |
Severe X-Linked Mitochondrial Encephalomyopathy |
|
Respiratory distress, Respiratory insufficiency |
ORPHA:238329 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Respiratory distress, Failure to thrive, Weight loss, Cachexia |
OMIM:612075 |
Acute Lung Injury |
|
Respiratory distress, Abnormal pulmonary interstitial morphology, Tachypnea, Pneumonia, Hypoxemia... |
ORPHA:178320 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Rib fusion, Thin ribs, Short ribs, Supernumerary vertebrae, Hemivertebrae, Short neck, Scoliosis,... |
OMIM:271520 |
Cardiomyopathy, Dilated, 1Gg |
|
Respiratory distress |
OMIM:613642 |
Congenital Disorder Of Glycosylation, Type Iy |
|
Respiratory distress, Failure to thrive |
OMIM:300934 |
Wildervanck Syndrome |
|
Fused cervical vertebrae |
OMIM:314600 |
Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Hypoxemia, Nonproductive cough, Pleural empyema, Acute infectious pneumonia... |
ORPHA:36238 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Butterfly vertebrae, Lumbar hyperlordosis, 2-3 toe syndactyly, Scoliosis, Thoracic kyphoscoliosis... |
ORPHA:313892 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Respiratory distress, Oxygen desaturation on exertion, Asthma, Hypoxemia, Cystic pattern on pulmo... |
OMIM:610978 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Kyphosis, Scoliosis, Hyperlordosis, Vertebral fusion, Achilles tendon contracture |
OMIM:606612 |
Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia/Hypoplasia of the ulna, Clinodactyly of the 5th finger, Coxa valga, Finger syndactyly, Ad... |
ORPHA:3320 |
Oculogastrointestinal Muscular Dystrophy |
|
Malabsorption, Abnormal gastric mucosa morphology, Cachexia, Abnormality of the gastrointestinal ... |
ORPHA:1876 |
Gorlin Syndrome |
|
Arachnodactyly, Hemivertebrae, Vertebral fusion, Scoliosis, Brachydactyly, Vertebral wedging |
ORPHA:377 |
Alpha-1-Antitrypsin Deficiency |
|
Panacinar emphysema, Chronic pulmonary obstruction, Chronic bronchitis, Cough, Wheezing, Bronchie... |
OMIM:613490 |
Stapes Ankylosis With Broad Thumbs And Toes |
|
Short distal phalanx of finger, Broad hallux, Fused cervical vertebrae, Broad thumb, Proximal/mid... |
OMIM:184460 |
Meconium Aspiration Syndrome |
|
Respiratory distress, Hypoxemia, Aspiration pneumonia, Wheezing, Pneumothorax, Neonatal asphyxia,... |
ORPHA:70588 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Kyphosis, Abnormal hip bone morphology, Short neck, Hyperlordosis, Abnormal rib morphology, Fused... |
ORPHA:2522 |
Leiomyoma Of Vulva And Esophagus |
|
Esophageal obstruction |
OMIM:150700 |
Asbestos Intoxication |
|
Interlobular septal thickening, Lung adenocarcinoma, Oxygen desaturation on exertion, Reduced vit... |
ORPHA:2302 |
Aarskog-Scott Syndrome |
|
Clinodactyly of the 5th finger, Genu recurvatum, Abnormal vertebral segmentation and fusion, Smal... |
ORPHA:915 |
N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress, Failure to thrive |
OMIM:237310 |
Asymmetric Short Stature Syndrome |
|
Lumbar scoliosis, Fused cervical vertebrae |
OMIM:108450 |
Frontometaphyseal Dysplasia 1 |
|
Craniosynostosis, Increased density of long bone diaphyses, Partial fusion of tarsals, Genu valgu... |
OMIM:305620 |
Stt3B-Cdg |
|
Respiratory distress, Failure to thrive, Intrauterine growth retardation |
ORPHA:370924 |
Spondylocarpotarsal Synostosis Syndrome |
|
Vertebral segmentation defect, Carpal synostosis, Epiphyseal dysplasia, Clinodactyly of the 5th f... |
OMIM:272460 |
Congenital Diaphragmatic Hernia |
|
Respiratory distress, Pulmonary hypoplasia, Hypoxemia |
ORPHA:2140 |
Congenital Disorder Of Glycosylation, Type Ix |
|
Respiratory distress, Failure to thrive, Intrauterine growth retardation |
OMIM:615597 |
Pneumocystosis |
|
Multiple pulmonary cysts, Hypoxemia, Nonproductive cough, Interstitial pneumonitis, Respiratory i... |
ORPHA:723 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Vertebral segmentation defect, Vertebral fusion, Abnormal sacrum morphology, Abnormal form of the... |
ORPHA:3109 |
Alkaptonuria |
|
Kyphosis, Intervertebral disc degeneration, Arthritis, Limitation of knee mobility, Low back pain... |
OMIM:203500 |
Congenital Pulmonary Lymphangiectasia |
|
Respiratory distress, Chronic pulmonary obstruction, Cough, Pleural effusion, Pulmonary arterial ... |
ORPHA:2414 |
Idiopathic Neonatal Atrial Flutter |
|
Large for gestational age, Respiratory distress, Tachypnea |
ORPHA:45452 |
Infant Acute Respiratory Distress Syndrome |
|
Pulmonary edema, Tachypnea, Respiratory tract infection, Pneumonia, Hypoxemia, Respiratory failur... |
ORPHA:70587 |
Ciliary Dyskinesia, Primary, 2 |
|
Respiratory distress, Sinusitis, Ciliary dyskinesia, Bronchiectasis, Immotile cilia, Recurrent re... |
OMIM:606763 |
Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Respiratory distress, Failure to thrive, Intrauterine growth retardation |
ORPHA:261304 |
Familial Congenital Mirror Movements |
|
Fused cervical vertebrae |
ORPHA:238722 |
Congenital Laryngeal Web |
|
Respiratory distress, Stridor |
ORPHA:2374 |
Caudal Regression Syndrome |
|
Joint stiffness, Hypoplastic vertebral bodies, Abnormal iliac wing morphology, Abnormal vertebral... |
ORPHA:3027 |
X-Linked Centronuclear Myopathy |
|
Respiratory distress, Recurrent respiratory infections, Pneumonia, Respiratory failure requiring ... |
ORPHA:596 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Respiratory distress |
OMIM:604377 |
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Respiratory distress, Ventilator dependence with inability to wean, Respiratory failure requiring... |
ORPHA:254864 |
Nipah Virus Disease |
|
Respiratory distress, Recurrent pharyngitis, Cough |
ORPHA:99825 |
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6 |
|
Respiratory distress, Paradoxical respiration, Recurrent acute respiratory tract infection |
OMIM:620011 |
Surfactant Metabolism Dysfunction, Pulmonary, 5 |
|
Interlobular septal thickening, Respiratory insufficiency, Intraalveolar phospholipid accumulatio... |
OMIM:614370 |
Malaria |
|
Respiratory distress |
ORPHA:673 |
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Cervical C2/C3 vertebral fusion, Flexion contracture, Short neck, Thoracolumbar scoliosis, Acetab... |
OMIM:616549 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Kyphosis, Scoliosis, Hyperlordosis, Vertebral fusion, Achilles tendon contracture |
OMIM:607155 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Respiratory distress, Failure to thrive |
OMIM:618426 |
Slc35A1-Cdg |
|
Respiratory distress, Pulmonary hemorrhage, Hypoxemia, Pneumonia |
ORPHA:238459 |
Wildervanck Syndrome |
|
Fused cervical vertebrae, Short neck |
ORPHA:3456 |
Congenital Tracheomalacia |
|
Apnea, Decreased peak expiratory flow, Pulmonary hypoplasia, Pneumonia, Tracheomalacia, Wheezing,... |
ORPHA:95430 |
Chitayat Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Abnormal pulmonary interstitial morpholog... |
OMIM:617180 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Hypoplastic sacrum, Hypoplasia of the radius, Hemivertebrae, Short neck, Duplication of the dista... |
OMIM:268310 |
Avian Influenza |
|
Respiratory distress, Hypoxemia, Nonproductive cough, Tachypnea, Cough, Productive cough, Pleural... |
ORPHA:454836 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Cervical C2/C3 vertebral fusion, Thoracic scoliosis, Knee dislocation, Generalized joint laxity, ... |
OMIM:618000 |
Thyroid Lymphoma |
|
Respiratory distress, Dyspnea, Stridor, Upper airway obstruction |
ORPHA:97285 |
Sarcoidosis, Susceptibility To, 2 |
|
Hypoxemia, Abnormal pulmonary interstitial morphology, Pulmonary arterial hypertension, Pleural e... |
OMIM:612387 |
Mitochondrial Pyruvate Carrier Deficiency |
|
Respiratory distress |
OMIM:614741 |
Pulmonary Alveolar Proteinosis, Acquired |
|
Intraalveolar phospholipid accumulation, Cough, Decreased DLCO, Pneumonia, Restrictive ventilator... |
OMIM:610910 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Short neck, Down-sloping shoulders, Ulnar deviation of finger, Rocke... |
OMIM:265000 |
Wolman Disease |
|
Hepatomegaly, Steatorrhea, Splenomegaly, Cachexia, Esophageal varix |
ORPHA:75233 |
Budd-Chiari Syndrome |
|
Malabsorption, Hepatomegaly, Splenomegaly, Intestinal obstruction, Gastrointestinal hemorrhage, E... |
ORPHA:131 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Respiratory distress |
ORPHA:240085 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory distress, Dyspnea, Respiratory failure, Recurrent respiratory infections |
ORPHA:2759 |
Myopathy And Diabetes Mellitus |
|
Respiratory distress |
ORPHA:2596 |
Basal Cell Nevus Syndrome |
|
Bifid ribs, Kyphoscoliosis, Short distal phalanx of the thumb, Supernumerary ribs, Short ribs, He... |
OMIM:109400 |
Lethal Recessive Chondrodysplasia |
|
Respiratory distress |
ORPHA:1423 |
Otopalatodigital Syndrome Type 2 |
|
Carpal synostosis, Increased bone mineral density, Flared iliac wing, Abnormal vertebral segmenta... |
ORPHA:90652 |
Atelosteogenesis, Type I |
|
Aplasia/Hypoplasia of the ulna, Short neck, 11 pairs of ribs, Clubbing, Multinucleated giant chon... |
OMIM:108720 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Respiratory distress, Respiratory insufficiency, Nocturnal hypoventilation, Dyspnea, Stridor, Rec... |
OMIM:211530 |
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis |
|
Joint swelling, Osteomyelitis, Osteopenia, Fused cervical vertebrae, Osteolysis, Broad ribs, Flar... |
OMIM:612852 |
Lamb-Shaffer Syndrome |
|
Fused cervical vertebrae, Thoracic kyphosis, Hip dysplasia, Scoliosis |
ORPHA:530983 |
Congenital Disorder Of Glycosylation, Type Iu |
|
Respiratory distress, Neonatal respiratory distress |
OMIM:615042 |
Kbg Syndrome |
|
Rib fusion, Clinodactyly of the 5th finger, Ulnar deviation of the 2nd finger, Vertebral fusion, ... |
OMIM:148050 |
Developmental And Epileptic Encephalopathy 68 |
|
Respiratory distress, Failure to thrive |
OMIM:618201 |
Choanal Atresia |
|
Respiratory distress, Tracheomalacia, Abnormal nasal mucus secretion, Chronic sinusitis, Upper ai... |
ORPHA:137914 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Respiratory distress, Dyspnea, Cough |
ORPHA:86812 |
Acro-Renal-Ocular Syndrome |
|
Vertebral segmentation defect, Short distal phalanx of the thumb, Finger syndactyly, Radial club ... |
ORPHA:959 |
Lymphoid Interstitial Pneumonia |
|
Failure to thrive, Pulmonary venous hypertension, Subpleural interstitial thickening, Multiple pu... |
ORPHA:79128 |
Folinic Acid-Responsive Seizures |
|
Respiratory distress, Apnea |
ORPHA:79097 |
Holocarboxylase Synthetase Deficiency |
|
Respiratory distress, Weight loss, Tachypnea |
ORPHA:79242 |
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema |
|
Respiratory distress, Upper airway obstruction |
ORPHA:100057 |
Neurogenic Arthrogryposis Multiplex Congenita |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness |
ORPHA:1143 |
Lateral Meningocele Syndrome |
|
Kyphosis, Sclerosis of skull base, Short neck, Biconcave vertebral bodies, Scoliosis, Wormian bon... |
OMIM:130720 |
Mosaic Trisomy 20 |
|
Spinal canal stenosis, Vertebral segmentation defect, Kyphosis, Limited pronation/supination of f... |
ORPHA:1724 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Respiratory distress, Failure to thrive |
ORPHA:79312 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Respiratory distress |
ORPHA:240103 |
Frontometaphyseal Dysplasia |
|
Limitation of movement at ankles, Craniosynostosis, Limitation of knee mobility, Progressive bowi... |
ORPHA:1826 |
Tularemia |
|
Respiratory distress, Pleural effusion, Pneumonia, Cough |
ORPHA:3392 |
Congenital Disorder Of Glycosylation, Type Ie |
|
Respiratory distress, Failure to thrive |
OMIM:608799 |
Koolen-De Vries Syndrome |
|
Vertebral segmentation defect, Kyphosis, Arachnodactyly, Scoliosis, Hip dislocation, Vertebral fu... |
ORPHA:96169 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Esophageal varix, Splenomegaly |
ORPHA:75234 |
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia |
|
Congenital pyloric atresia, Esophageal stenosis |
OMIM:619817 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Crazy paving pattern, Crackles, Intraalveolar phospholipid accumulation, Cough, Decreased DLCO, R... |
ORPHA:747 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Respiratory distress, Intrauterine growth retardation |
ORPHA:89844 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Large for gestational age, Respiratory distress, Umbilical hernia |
ORPHA:226313 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory distress, Failure to thrive, Respiratory insufficiency, Respiratory failure requiring... |
ORPHA:308552 |
Multiple Carboxylase Deficiency |
|
Respiratory distress, Tachypnea |
ORPHA:148 |
Hypoglossia With Situs Inversus |
|
Respiratory distress, Upper airway obstruction |
OMIM:612776 |
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Bifid sternum |
OMIM:140850 |
Gaucher Disease, Perinatal Lethal |
|
Respiratory distress, Apnea, Decreased body weight, Neonatal death, Pulmonary hypoplasia, Intraut... |
OMIM:608013 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory distress, Pulmonary hypoplasia, Respiratory failure |
OMIM:617895 |
Microphthalmia, Syndromic 3 |
|
Rib fusion, Butterfly vertebrae, Hemivertebrae, Vertebral hypoplasia, Missing ribs, Supernumerary... |
OMIM:206900 |
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Respiratory distress, Failure to thrive |
ORPHA:544503 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Bifid ribs, Beaking of vertebral bodies, Rib fusion, Overlapping toe, Craniosynostosis, Hyperexte... |
OMIM:213980 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Respiratory distress, Respiratory insufficiency |
ORPHA:1145 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress, Failure to thrive |
ORPHA:927 |
Primary Dystonia, Dyt4 Type |
|
Respiratory distress, Eunuchoid habitus |
ORPHA:98805 |
Acquired Methemoglobinemia |
|
Respiratory distress, Dyspnea, Hypoxemia |
ORPHA:464453 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Episodic tachypnea, Small for gestational age, Tachypnea, Pneumonia, Obesit... |
ORPHA:26793 |
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Respiratory distress, Failure to thrive, Recurrent respiratory infections |
ORPHA:329178 |
Koolen-De Vries Syndrome |
|
Kyphosis, Spondylolisthesis, Slender finger, Prominent fingertip pads, Prominent metopic ridge, S... |
OMIM:610443 |
Myhre Syndrome |
|
Joint stiffness, Overlapping toe, Short toe, 2-3 toe syndactyly, Short long bone, Cone-shaped epi... |
OMIM:139210 |
Oromandibular Dystonia |
|
Respiratory distress, Weight loss |
ORPHA:93958 |
Mercury Poisoning |
|
Respiratory distress, Dyspnea, Interstitial pneumonitis, Respiratory failure |
ORPHA:330021 |
Oculocerebrofacial Syndrome, Kaufman Type |
|
Respiratory distress, Failure to thrive, Respiratory failure, Dyspnea |
ORPHA:2707 |
Brain-Lung-Thyroid Syndrome |
|
Respiratory distress, Failure to thrive, Asthma, Abnormal pulmonary interstitial morphology, Recu... |
ORPHA:209905 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Respiratory distress, Failure to thrive, Pulmonary arterial hypertension |
OMIM:619272 |
Myotubular Myopathy With Abnormal Genital Development |
|
Respiratory distress, Neonatal death |
OMIM:300219 |
Retinitis Pigmentosa 89 |
|
Hepatosplenomegaly, Esophageal varix |
OMIM:618955 |
Lymphatic Malformation 7 |
|
Respiratory distress, Pulmonary edema |
OMIM:617300 |
Restrictive Dermopathy 2 |
|
Respiratory distress, Intrauterine growth retardation |
OMIM:619793 |
Synaptic Congenital Myasthenic Syndromes |
|
Respiratory distress, Sleep apnea, Respiratory insufficiency, Recurrent lower respiratory tract i... |
ORPHA:98915 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Respiratory distress, Apnea, Aspiration pneumonia, Recurrent pneumonia, Hypoventilation |
ORPHA:314655 |
Pulmonary Alveolar Microlithiasis |
|
Interlobular septal thickening, Oxygen desaturation on exertion, Subpleural interstitial thickeni... |
ORPHA:60025 |
Tetrasomy 5P |
|
Respiratory distress, Failure to thrive, Pulmonary hypoplasia, Pulmonary arterial hypertension, R... |
ORPHA:3309 |
Hyperparathyroidism, Transient Neonatal |
|
Respiratory distress |
OMIM:618188 |
Odontochondrodysplasia 1 |
|
Respiratory distress, Pulmonary hypoplasia, Recurrent respiratory infections |
OMIM:184260 |
Nasolacrimal Duct Cyst |
|
Episodic respiratory distress, Intercostal retractions, Abnormal breath sound, Paroxysmal dyspnea... |
ORPHA:141083 |
Glycogen Storage Disease Iv |
|
Failure to thrive, Hepatosplenomegaly, Esophageal varix |
OMIM:232500 |
Diaphanospondylodysostosis |
|
Respiratory distress, Tracheomalacia, Respiratory insufficiency, Pulmonary hypoplasia, Intrauteri... |
OMIM:608022 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Respiratory distress, Episodic tachypnea, Apneic episodes in infancy, Dyspnea, Intermittent hyper... |
ORPHA:348 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Respiratory distress |
ORPHA:289916 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Respiratory distress, Failure to thrive, Exertional dyspnea, Respiratory failure, Respiratory ins... |
OMIM:220110 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Failure to thrive, Esophageal neoplasm, Gastroesophageal reflux, Morphological abnormality of the... |
ORPHA:1018 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Pulmonary hypoplasia, Neonatal death |
OMIM:231680 |
Sifrim-Hitz-Weiss Syndrome |
|
Short clavicles, Wormian bones, Tapered finger, Short femoral neck, Fused cervical vertebrae, Fla... |
OMIM:617159 |
Agnathia-Otocephaly Complex |
|
Respiratory distress, Pulmonary hypoplasia, Tracheomalacia |
OMIM:202650 |
Fanconi Anemia, Complementation Group I |
|
Absent thumb, Hypoplasia of the radius, Short 1st metacarpal, Short neck, Fused cervical vertebra... |
OMIM:609053 |
Faciodigitogenital Syndrome, Autosomal Recessive |
|
Clinodactyly of the 5th finger, Down-sloping shoulders, Syndactyly, Camptodactyly, Short foot, Me... |
OMIM:227330 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Respiratory distress |
OMIM:617102 |
Aicardi Syndrome |
|
Bifid ribs, Rib fusion, Butterfly vertebrae, Small hand, Scoliosis, Missing ribs, Block vertebrae... |
ORPHA:50 |
Odontochondrodysplasia |
|
Respiratory distress |
ORPHA:166272 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Respiratory distress, Failure to thrive, Respiratory insufficiency |
ORPHA:367 |
Portal Hypertension, Noncirrhotic, 2 |
|
Hepatocellular carcinoma, Hepatomegaly, Esophageal varix, Splenomegaly |
OMIM:619463 |
Thrombocytopenia-Absent Radius Syndrome |
|
Absent thumb, Hypoplasia of the radius, Femoral bowing, Hypoplasia of the ulna, Patellar dislocat... |
OMIM:274000 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Respiratory distress, Failure to thrive |
OMIM:251000 |
Inhalational Anthrax |
|
Respiratory distress, Dyspnea |
ORPHA:247257 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Broad phalanx, Short neck, Hypermobility of interphalangeal joints, Cervical hemivertebrae, Broad... |
ORPHA:508498 |
Congenital Myasthenic Syndrome |
|
Episodic respiratory distress, Respiratory arrest, Central sleep apnea, Intermittent episodes of ... |
ORPHA:590 |
Presynaptic Congenital Myasthenic Syndromes |
|
Episodic respiratory distress, Respiratory arrest, Central sleep apnea, Intermittent episodes of ... |
ORPHA:98914 |
Duane-Radial Ray Syndrome |
|
Absent thumb, Hypoplasia of the radius, Preaxial polydactyly, Short humerus, Scoliosis, Shoulder ... |
OMIM:607323 |
Microlissencephaly-Micromelia Syndrome |
|
Respiratory distress, Failure to thrive |
ORPHA:50810 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 2 |
|
Gastrointestinal hemorrhage, Esophageal varix |
OMIM:617341 |
Leigh Syndrome With Cardiomyopathy |
|
Respiratory distress, Failure to thrive, Apnea, Central hypoventilation, Respiratory failure |
ORPHA:70474 |
Renal Dysplasia-Limb Defects Syndrome |
|
Respiratory distress, Neonatal death, Pulmonary hypoplasia, Respiratory failure, Pneumothorax, In... |
OMIM:266910 |
Scimitar Syndrome |
|
Respiratory distress, Pulmonary sequestration, Anomalous pulmonary venous return, Cough, Pulmonar... |
ORPHA:185 |
Aicardi Syndrome |
|
Bifid ribs, Rib fusion, Butterfly vertebrae, Hemivertebrae, Scoliosis, Missing ribs, Block verteb... |
OMIM:304050 |
Duane Retraction Syndrome |
|
Abnormal vertebral segmentation and fusion, Hypoplasia of the radius, Absent radius, Short neck, ... |
ORPHA:233 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Respiratory distress, Recurrent respiratory infections |
OMIM:619383 |
Esophageal Atresia |
|
Respiratory distress, Laryngotracheomalacia, Episodic respiratory distress, Chronic pulmonary obs... |
ORPHA:1199 |
Episodic Ataxia Type 1 |
|
Respiratory distress |
ORPHA:37612 |
Spinocerebellar Ataxia, X-Linked 3 |
|
Episodic respiratory distress, Episodic hypoventilation, Recurrent respiratory infections |
OMIM:301790 |
Simpson-Golabi-Behmel Syndrome |
|
Vertebral segmentation defect, Short toe, Clinodactyly of the 5th finger, Short 2nd finger, Accel... |
ORPHA:373 |
Radio-Renal Syndrome |
|
Respiratory distress, Chylothorax, Pleural effusion, Dyspnea, Respiratory failure |
ORPHA:3015 |
Complete Atrioventricular Septal Defect |
|
Failure to thrive, Pulmonary venous hypertension, Crackles, Elevated pulmonary artery pressure, T... |
ORPHA:1329 |
Infantile Krabbe Disease |
|
Respiratory distress, Failure to thrive, Respiratory failure, Cachexia |
ORPHA:206436 |
Nocardiosis |
|
Respiratory distress, Nonproductive cough, Pleuritis, Productive cough, Pleural effusion, Pneumon... |
ORPHA:31204 |
Tetanus |
|
Respiratory distress, Tachypnea |
ORPHA:3299 |
Myotonic Dystrophy 1 |
|
Respiratory distress |
OMIM:160900 |
Apert Syndrome |
|
Delayed epiphyseal ossification, Cervical C5/C6 vertebrae fusion, Finger syndactyly, Craniosynost... |
OMIM:101200 |
Triosephosphate Isomerase Deficiency |
|
Respiratory distress, Failure to thrive, Respiratory insufficiency, Respiratory failure, Respirat... |
OMIM:615512 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Failure to thrive, Decreased body weight, Gastroesophageal reflux, Abnormal esophagus morphology,... |
ORPHA:89842 |
Moebius Syndrome |
|
Respiratory distress |
OMIM:157900 |
Farber Disease |
|
Respiratory distress, Failure to thrive, Nodular pattern on pulmonary HRCT, Recurrent upper respi... |
ORPHA:333 |
Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Spontaneous esophageal perforation, Dysphagia, Esophageal stricture, Abnormal esophagus morphology |
OMIM:226600 |
Craniofaciofrontodigital Syndrome |
|
Large for gestational age, Dyspnea, Pulmonary arterial hypertension, Respiratory distress |
ORPHA:363705 |
Noonan Syndrome 7 |
|
Large for gestational age, Dysphagia, Abnormal esophagus morphology, Impaired oropharyngeal swall... |
OMIM:613706 |
Methylmalonic Aciduria, Cblb Type |
|
Respiratory distress, Failure to thrive |
OMIM:251110 |
Wolf-Hirschhorn Syndrome |
|
Kyphosis, Preaxial foot polydactyly, Abnormal sternal ossification, Rib fusion, Vertebral fusion,... |
OMIM:194190 |
Kniest Dysplasia |
|
Respiratory distress, Umbilical hernia, Tracheomalacia |
OMIM:156550 |
Congenital Tracheal Stenosis |
|
Respiratory distress, Anomalous origin of left pulmonary artery from ascending aorta, Neonatal as... |
ORPHA:141127 |
Mucopolysaccharidosis-Plus Syndrome |
|
Respiratory distress, Recurrent bronchopulmonary infections, Recurrent pneumonia, Recurrent respi... |
OMIM:617303 |
Q Fever |
|
Respiratory distress, Abnormal pulmonary interstitial morphology, Cough, Pleural effusion, Pneumo... |
ORPHA:781 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory distress, Failure to thrive, Sleep apnea, Respiratory insufficiency, Orthopnea, Respi... |
ORPHA:365 |
Oculopharyngodistal Myopathy 1 |
|
Respiratory distress, Hypercapnia, Reduced forced vital capacity, Restrictive ventilatory defect,... |
OMIM:164310 |
Pachyonychia Congenita |
|
Respiratory distress, Failure to thrive |
ORPHA:2309 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Colitis, Esophageal stenosis |
OMIM:615190 |
Toxic Epidermal Necrolysis |
|
Respiratory distress, Abnormal pleura morphology, Cough, Restrictive ventilatory defect, Weight l... |
ORPHA:537 |
Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Cervical C2/C3 vertebral fusion, Lumbar hyperlordosis, Lumbar scoliosis |
OMIM:617796 |
Methylmalonic Aciduria, Cbla Type |
|
Respiratory distress, Failure to thrive |
OMIM:251100 |
Shwachman-Diamond Syndrome 1 |
|
Respiratory distress, Failure to thrive, Neonatal respiratory distress, Small for gestational age |
OMIM:260400 |
3-Methylglutaconic Aciduria, Type Viib |
|
Respiratory distress, Intrauterine growth retardation, Recurrent pneumonia |
OMIM:616271 |
Congenital Enterovirus Infection |
|
Respiratory distress, Pleural effusion |
ORPHA:292 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Respiratory distress, Intrauterine growth retardation |
OMIM:612863 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Respiratory distress, Dyspnea, Pulmonary edema |
OMIM:115197 |
Sepsis In Premature Infants |
|
Decreased body weight, Small for gestational age, Abnormal respiratory system physiology, Abnorma... |
ORPHA:90051 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Failure to thrive, Hepatomegaly, Splenomegaly, Inflammation of the large intestine, Esophageal varix |
OMIM:614576 |
Adams-Oliver Syndrome 6 |
|
Esophageal varix, Splenomegaly |
OMIM:616589 |
Pulmonary Hypertension, Primary, 3 |
|
Dyspnea, Pulmonary arterial hypertension, Elevated pulmonary artery pressure, Increased pulmonary... |
OMIM:615343 |
Robinow Syndrome |
|
Short distal phalanx of finger, Rib fusion, Kyphoscoliosis, Fused thoracic vertebrae, Hemivertebr... |
ORPHA:97360 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Fused cervical vertebrae, Butterfly vertebrae, Spina bifida occulta |
OMIM:619227 |
Caroli Disease, Isolated |
|
Hepatomegaly, Esophageal varix |
OMIM:600643 |
Visceral Myopathy, Familial, With External Ophthalmoplegia |
|
Spontaneous esophageal perforation |
OMIM:277320 |
Mogs-Cdg |
|
Respiratory distress, Apnea, Pulmonary edema, Hypoventilation |
ORPHA:79330 |
Bacterial Toxic-Shock Syndrome |
|
Respiratory distress, Sinusitis, Tachypnea, Respiratory tract infection, Pneumonia |
ORPHA:36234 |
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Respiratory distress |
OMIM:606164 |
Bronchogenic Cyst |
|
Dysphagia, Abnormal esophagus morphology, Abnormal stomach morphology |
ORPHA:2357 |
Plummer-Vinson Syndrome |
|
Esophageal web, Glossitis, Dysphagia, Tongue atrophy |
ORPHA:54028 |
Arnold-Chiari Malformation Type I |
|
Cervical C2/C3 vertebral fusion, Scoliosis, Fused cervical vertebrae, Stiff neck, Anteriorly plac... |
ORPHA:268882 |
Cardiospondylocarpofacial Syndrome |
|
Carpal synostosis, Rib fusion, Cone-shaped epiphysis, Scoliosis, Brachydactyly, Fused cervical ve... |
OMIM:157800 |
Spinal muscular atrophy, type I, with congenital bone fractures |
|
Respiratory distress |
OMIM:271225 |
Cryptococcosis |
|
Respiratory distress, Nodular pattern on pulmonary HRCT, Cough, Pleural effusion, Pneumonia, Dyspnea |
ORPHA:1546 |
Cocaine Intoxication |
|
Respiratory distress, Pulmonary edema, Tachypnea, Wheezing, Cough, Hyperventilation, Pneumothorax... |
ORPHA:90068 |
Dyskeratosis Congenita, Autosomal Dominant 6 |
|
Oral leukoplakia, Esophageal stenosis |
OMIM:616553 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Respiratory distress, Pulmonary arterial hypertension |
ORPHA:2519 |
Hemorrhagic Fever-Renal Syndrome |
|
Respiratory distress, Decreased body weight, Pulmonary edema, Epistaxis, Cough, Pleural effusion,... |
ORPHA:340 |
Auriculocondylar Syndrome |
|
Respiratory distress, Snoring, Obstructive sleep apnea |
ORPHA:137888 |
Mgat2-Cdg |
|
Respiratory distress, Failure to thrive, Recurrent upper and lower respiratory tract infections |
ORPHA:79329 |
Lysosomal Acid Lipase Deficiency |
|
Failure to thrive, Hepatomegaly, Splenomegaly, Steatorrhea, Hepatosplenomegaly, Esophageal varix |
OMIM:278000 |
Biotinidase Deficiency |
|
Respiratory distress, Apnea, Myelopathy, Hyperventilation |
ORPHA:79241 |
Spondyloepiphyseal Dysplasia Congenita |
|
Respiratory distress, Restrictive ventilatory defect, Cervical myelopathy |
OMIM:183900 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Respiratory distress, Cachexia, Interstitial pneumonitis, Pneumonia, Failure to thrive in infancy... |
ORPHA:37042 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Respiratory distress, Neonatal respiratory distress, Tracheomalacia |
OMIM:217980 |
Apert Syndrome |
|
Vertebral segmentation defect, Broad thumb, Cervical C5/C6 vertebrae fusion, Aplasia/Hypoplasia o... |
ORPHA:87 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Respiratory distress |
ORPHA:990 |
Japanese Encephalitis |
|
Respiratory distress, Pulmonary edema, Irregular respiration, Respiratory paralysis, Abnormal pat... |
ORPHA:79139 |
Ramos-Arroyo Syndrome |
|
Respiratory distress, Decreased body weight, Severe failure to thrive |
ORPHA:1051 |
Meier-Gorlin Syndrome 1 |
|
Respiratory distress, Failure to thrive, Small for gestational age, Emphysema, Intrauterine growt... |
OMIM:224690 |
Idiopathic Hypereosinophilic Syndrome |
|
Respiratory distress, Failure to thrive, Asthma, Pulmonary embolism, Cough, Pleural effusion, Dys... |
ORPHA:3260 |
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
|
Gastric ulcer, Duodenal ulcer, Esophageal ulceration |
OMIM:618372 |
Arterial Tortuosity Syndrome |
|
Respiratory distress, Cardiorespiratory arrest, Dyspnea, Pulmonary artery stenosis, Respiratory f... |
ORPHA:3342 |
Rodrigues Blindness |
|
Nasal flaring |
OMIM:268320 |
Hereditary Angioedema Type 1 |
|
Respiratory distress, Dyspnea, Inspiratory stridor |
ORPHA:100050 |
Alternating Hemiplegia Of Childhood |
|
Respiratory distress, Failure to thrive, Apnea, Aspiration |
ORPHA:2131 |
Hepatoportal Sclerosis |
|
Splenomegaly, Hepatocellular carcinoma, Gastric varix, Esophageal varix, Gastrointestinal hemorrhage |
ORPHA:64743 |
Thakker-Donnai Syndrome |
|
Cervical C2/C3 vertebral fusion, Hemivertebrae, Short neck |
ORPHA:1780 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Respiratory distress, Umbilical hernia |
ORPHA:1555 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Respiratory distress, Recurrent respiratory infections |
OMIM:300968 |
Systemic Sclerosis |
|
Intestinal bleeding, Gastroesophageal reflux, Abnormal stomach morphology, Barrett esophagus, Abn... |
ORPHA:90291 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Respiratory distress, Airway obstruction, Pulmonary arterial hypertension, Stridor, Recurrent res... |
ORPHA:505248 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Respiratory distress, Failure to thrive, Pulmonary embolism, Pulmonary arterial hypertension, Int... |
ORPHA:79282 |
Campomelic Dysplasia |
|
Respiratory distress, Failure to thrive, Apnea, Tracheomalacia, Recurrent upper respiratory tract... |
OMIM:114290 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Respiratory distress |
OMIM:610536 |
Neuromuscular Oculoauditory Syndrome |
|
Respiratory distress, Aspiration |
OMIM:618733 |
Frontometaphyseal Dysplasia 2 |
|
Hip contracture, Dislocated radial head, Congenital hip dislocation, Scoliosis, Finger clinodacty... |
OMIM:617137 |
Ear-Patella-Short Stature Syndrome |
|
Respiratory distress, Failure to thrive, Respiratory failure, Dyspnea, Intrauterine growth retard... |
ORPHA:2554 |
Prader-Willi Syndrome Due To Translocation |
|
Respiratory distress, Obesity, Intrauterine growth retardation, Recurrent respiratory infections |
ORPHA:177907 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Respiratory distress, Tracheomalacia, Repeated pneumothoraces, Respiratory insufficiency, Pulmona... |
ORPHA:536467 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Respiratory distress, Failure to thrive, Apnea, Recurrent respiratory infections |
ORPHA:17 |
Adnp Syndrome |
|
Respiratory distress, Recurrent upper respiratory tract infections, Truncal obesity, Umbilical he... |
ORPHA:404448 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Failure to thrive, Apnea, Episodic respiratory distress, Hyperventilation, Dyspnea |
ORPHA:255210 |
Lujo Hemorrhagic Fever |
|
Respiratory distress, Crackles, Nonproductive cough, Rhinitis |
ORPHA:319213 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Enlarged kidney, Hepatomegaly, Esophageal varix, Splenomegaly |
OMIM:263200 |
Pfeiffer Syndrome Type 2 |
|
Respiratory distress, Tracheomalacia |
ORPHA:93259 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Failure to thrive, Hepatomegaly, Splenomegaly, Hepatocellular carcinoma, Hepatocellular adenoma, ... |
ORPHA:370 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Respiratory distress |
OMIM:123790 |
Benign Schwannoma |
|
Intestinal polyposis, Abnormal esophagus morphology, Abnormal parotid gland morphology |
ORPHA:252164 |
Pfeiffer Syndrome Type 3 |
|
Respiratory distress, Tracheomalacia |
ORPHA:93260 |
Congenital Disorder Of Deglycosylation 1 |
|
Respiratory distress, Decreased body weight, Central sleep apnea, Recurrent respiratory infections |
OMIM:615273 |
Aspergillosis |
|
Abnormal esophagus morphology |
ORPHA:1163 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Respiratory distress, Failure to thrive, Stridor, Pneumonia, Pneumothorax, Dyspnea, Respiratory f... |
ORPHA:79404 |
Ethylene Glycol Poisoning |
|
Abnormal pattern of respiration, Episodic respiratory distress, Pulmonary edema, Tachypnea |
ORPHA:31826 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Failure to thrive, Hepatomegaly, Splenomegaly, Hepatocellular adenoma, Esophageal varix, Increase... |
ORPHA:264580 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Respiratory distress |
ORPHA:438216 |
Osteoglophonic Dysplasia |
|
Respiratory distress, Failure to thrive |
OMIM:166250 |
Chops Syndrome |
|
Cervical C2/C3 vertebral fusion, Brachydactyly, Tracheomalacia |
OMIM:616368 |
Adams-Oliver Syndrome |
|
Failure to thrive, Gastrointestinal hemorrhage, Esophageal varix |
ORPHA:974 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Respiratory distress |
OMIM:274150 |
Caroli Disease |
|
Cholangiocarcinoma, Hepatomegaly, Splenomegaly, Esophageal varix, Weight loss |
ORPHA:53035 |
Colchicine Poisoning |
|
Respiratory distress, Cardiorespiratory arrest |
ORPHA:31824 |
Diamond-Blackfan Anemia 10 |
|
Respiratory distress |
OMIM:613309 |
Coach Syndrome 1 |
|
Hepatomegaly, Esophageal varix, Splenomegaly |
OMIM:216360 |
Coccidioidomycosis |
|
Respiratory distress, Pleural empyema, Cough, Pneumonia, Exudative pleural effusion |
ORPHA:228123 |
Adams-Oliver Syndrome 5 |
|
Esophageal varix, Right ventricular hypertrophy, Splenomegaly |
OMIM:616028 |
Rubinstein-Taybi Syndrome 1 |
|
Respiratory distress, Failure to thrive, Small for gestational age, Recurrent upper respiratory t... |
OMIM:180849 |
Congenital Alveolar Capillary Dysplasia |
|
Respiratory distress, Pulmonary arterial hypertension |
ORPHA:210122 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Cardiac total anomalous pulmonary venous connection, Respiratory distress, Paroxysmal dyspnea, Mi... |
ORPHA:99125 |
Craniorachischisis |
|
Bifid sternum |
ORPHA:63260 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Respiratory distress, Failure to thrive, Small for gestational age, Umbilical hernia, Pulmonary a... |
ORPHA:2255 |
Arboleda-Tham Syndrome |
|
Respiratory distress, Recurrent aspiration pneumonia, Neonatal respiratory distress, Intrauterine... |
OMIM:616268 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Respiratory distress, Pulmonary hypoplasia, Failure to thrive, Intrauterine growth retardation |
ORPHA:83617 |
Schinzel-Giedion Syndrome |
|
Respiratory distress, Neural tube defect, Pulmonary hypoplasia, Recurrent pneumonia, Umbilical he... |
ORPHA:798 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Respiratory distress, Respiratory acidosis, Abnormal pulmonary interstitial morphology, Neonatal ... |
OMIM:614748 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Esophageal varix |
OMIM:619662 |
Listeriosis |
|
Respiratory distress, Respiratory failure, Pneumonia |
ORPHA:533 |
Cirrhosis, Familial |
|
Esophageal varix |
OMIM:215600 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Respiratory distress, Failure to thrive, Respiratory failure, Dyspnea |
ORPHA:2556 |
Aortic Arch Interruption |
|
Respiratory distress, Exertional dyspnea, Aortopulmonary window, Tachypnea |
ORPHA:2299 |
Coffin-Lowry Syndrome |
|
Drumstick terminal phalanges, Kyphosis, Short metacarpal, Hyperextensibility of the finger joints... |
OMIM:303600 |
Isolated Arrhinia |
|
Respiratory distress |
ORPHA:1134 |
Heterotaxy, Visceral, 1, X-Linked |
|
Block vertebrae, Congenital hip dislocation, Absence of the sacrum, Short long bone |
OMIM:306955 |
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Obesity, Asthma, Nasal flaring |
ORPHA:466943 |
Tuberous Sclerosis Complex |
|
Respiratory distress, Pulmonary lymphangiomyomatosis, Respiratory failure, Respiratory tract infe... |
ORPHA:805 |
Stüve-Wiedemann Syndrome |
|
Respiratory distress, Apnea, Asthma, Intrauterine growth retardation |
ORPHA:3206 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Cervical C2/C3 vertebral fusion, Hypoplasia of proximal radius, Tracheomalacia, Small hand, Brach... |
ORPHA:444077 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Respiratory distress, Rhinitis |
OMIM:305100 |
Lysosomal Acid Lipase Deficiency |
|
Failure to thrive, Steatorrhea, Cachexia, Hepatosplenomegaly, Esophageal varix, Weight loss |
ORPHA:275761 |
Kasabach-Merritt Syndrome |
|
Respiratory distress, Hypopnea |
ORPHA:2330 |
Cleidocranial Dysplasia 1 |
|
Respiratory distress, Neonatal respiratory distress |
OMIM:119600 |
Gitelman Syndrome |
|
Respiratory distress, Failure to thrive |
ORPHA:358 |
Hardikar Syndrome |
|
Failure to thrive, Hepatomegaly, Hematemesis, Splenomegaly, Intestinal malrotation, Hepatosplenom... |
OMIM:301068 |
Eisenmenger Syndrome |
|
Respiratory distress, Wheezing, Hypoxemia, Exertional dyspnea, Pulmonary arterial hypertension, A... |
ORPHA:97214 |
Dyskeratosis Congenita |
|
Malabsorption, Hepatomegaly, Splenomegaly, Tracheoesophageal fistula, Esophageal stenosis, Anorec... |
ORPHA:1775 |
Ulbright-Hodes Syndrome |
|
Respiratory distress, Severe intrauterine growth retardation, Pulmonary hypoplasia, Pneumothorax,... |
ORPHA:3404 |
Chronic Graft Versus Host Disease |
|
Gastroesophageal reflux, Xerostomia, Abnormal esophagus morphology, Esophageal stricture, Esophag... |
ORPHA:99921 |
Kindler Syndrome |
|
Dysphagia, Oral leukoplakia, Anal stenosis, Esophageal stenosis |
OMIM:173650 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Respiratory distress, Chronic lung disease, Respiratory failure requiring assisted ventilation, C... |
ORPHA:95455 |
Alacrima, Achalasia, And Mental Retardation Syndrome |
|
Dysphagia, Achalasia, Esophageal stenosis |
OMIM:615510 |
Leptospirosis |
|
Respiratory distress, Pulmonary hemorrhage, Pleural effusion, Cough |
ORPHA:509 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Slender build, Failure to thrive, High palate, Gastroesophageal reflux, Small for gestational age... |
OMIM:613658 |
Doors Syndrome |
|
Respiratory distress, Aspiration pneumonia, Arrhinencephaly, Spina bifida occulta, Sirenomelia |
ORPHA:79500 |
Classic Homocystinuria |
|
High palate, Gastrointestinal hemorrhage, Hepatomegaly, Esophageal varix |
ORPHA:394 |
Hereditary Hemorrhagic Telangiectasia |
|
Gastrointestinal hemorrhage, Intestinal polyposis, Esophageal varix |
ORPHA:774 |
Elsahy-Waters Syndrome |
|
Cervical C2/C3 vertebral fusion, Cutaneous finger syndactyly, Shortening of all phalanges of fing... |
OMIM:211380 |
Hepatocellular Carcinoma |
|
Weight loss, Hepatomegaly, Esophageal varix, Abnormal rectum morphology |
ORPHA:88673 |
Wilson Disease |
|
Hepatomegaly, Splenomegaly, Hepatocellular carcinoma, Esophageal varix, Dysphagia |
OMIM:277900 |
Caroli Syndrome |
|
Melena, Cholangiocarcinoma, Hepatomegaly, Hematemesis, Esophageal varix |
ORPHA:480520 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangiocarcinoma, Hepatoblastoma, Splenomegaly, Hepatosplenomegaly, Enlarged kidney, Esophageal... |
ORPHA:731 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Hepatomegaly, Esophageal varix, Splenomegaly |
ORPHA:309854 |
Craniofacial Microsomia |
|
Hemivertebrae, Partial duplication of thumb phalanx, Scoliosis, Genu valgum, Cervical ribs, Verte... |
OMIM:164210 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Hamartoma of tongue, Anal atresia, Esophageal diverticulum, Cleft palate |
OMIM:617925 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Hepatosplenomegaly, Hepatomegaly, Esophageal varix, Splenomegaly |
OMIM:615688 |
Generalized Arterial Calcification Of Infancy |
|
Hypophosphatemic rickets, Osteomalacia, Abnormal calcification of the carpal bones, Fused cervica... |
ORPHA:51608 |
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Respiratory distress, Failure to thrive, Intrauterine growth retardation, Recurrent pneumonia |
ORPHA:99646 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Respiratory distress |
OMIM:617088 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Splenomegaly, Cachexia, Hepatosplenomegaly, Esophageal varix, Gastric ulcer |
ORPHA:2072 |
8Q24.3 Microdeletion Syndrome |
|
Respiratory distress, Small for gestational age, Spina bifida occulta, Abnormal lung lobation, Br... |
ORPHA:508488 |
Plague |
|
Respiratory distress, Acute infectious pneumonia |
ORPHA:707 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Respiratory distress, Recurrent upper and lower respiratory tract infections |
ORPHA:480880 |
Senior-Boichis Syndrome |
|
Hepatosplenomegaly, Esophageal varix |
ORPHA:84081 |
Alström Syndrome |
|
Respiratory distress, Chronic pulmonary obstruction, Chronic bronchitis, Recurrent upper respirat... |
ORPHA:64 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
High palate, Failure to thrive, Hepatosplenomegaly, Esophageal varix, Dysphagia, Cleft soft palate |
OMIM:619503 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Failure to thrive, Gastroesophageal reflux, Hepatomegaly, Splenomegaly, Esophageal varix |
OMIM:619534 |
Pmm2-Cdg |
|
Aspiration pneumonia, Failure to thrive, Respiratory distress |
ORPHA:79318 |