Emphysema, Hereditary Pulmonary |
|
Emphysema, Chronic pulmonary obstruction, Chronic bronchitis |
OMIM:130700 |
Mucus Inspissation Of Respiratory Tract |
|
Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr... |
OMIM:253240 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ... |
OMIM:609813 |
Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Short neck, Vertebral clefting, Rib fusion, Hemivertebrae, Vertebral segmentation defect |
OMIM:608681 |
Ciliary Dyskinesia, Primary, 21 |
|
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ... |
OMIM:615294 |
Bare Lymphocyte Syndrome, Type I |
|
Nasal polyposis, Bronchiectasis, Bronchiolitis, Emphysema, Chronic sinusitis, Chronic otitis medi... |
OMIM:604571 |
Ciliary Dyskinesia, Primary, 29 |
|
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili... |
OMIM:615872 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Atelectasis, Chronic sinusitis, Recurrent bronchitis, Otitis media |
OMIM:300455 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... |
OMIM:619466 |
Ciliary Dyskinesia, Primary, 33 |
|
Atelectasis, Recurrent pneumonia, Bronchiectasis, Ciliary dyskinesia, Chronic rhinitis, Cough, Re... |
OMIM:616726 |
Idiopathic Bronchiectasis |
|
Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Bronchiect... |
ORPHA:60033 |
Familial Nasal Acilia |
|
Respiratory distress, Atelectasis, Dyspnea, Recurrent upper respiratory tract infections, Bronchi... |
ORPHA:922 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Ground-glass opacification, Respiratory tract infection, Hypersensitivity pneumonitis, Nonproduct... |
ORPHA:79127 |
Bronchopulmonary Dysplasia |
|
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Atelecta... |
ORPHA:70589 |
Congenital Lobar Emphysema |
|
Respiratory distress, Emphysema |
ORPHA:1928 |
Allergic Bronchopulmonary Aspergillosis |
|
Abnormal eosinophil morphology, Asthma, Bronchiectasis, Respiratory insufficiency, Cough, Pulmona... |
ORPHA:1164 |
Alpha-1-Antitrypsin Deficiency |
|
Chronic bronchitis, Dyspnea, Panacinar emphysema, Chronic pulmonary obstruction, Wheezing, Bronch... |
OMIM:613490 |
Spondylocostal Dysostosis 5 |
|
Vertebral fusion, Low back pain, Missing ribs, Short neck, Hemivertebrae, Pectus carinatum, Poste... |
OMIM:122600 |
Cervical Rib |
|
Cervical ribs |
OMIM:117900 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Back pain, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosi... |
OMIM:277300 |
Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
Epidermodysplasia Verruciformis, Susceptibility To, 4 |
|
Stomatitis, Emphysema, Increased proportion of exhausted T cells |
OMIM:618307 |
Sarcoidosis, Susceptibility To, 2 |
|
Erythema nodosum, Dyspnea, Splenomegaly, Pneumothorax, Bronchiectasis, Abnormal pulmonary interst... |
OMIM:612387 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Finger syndactyly, Abnormality of the elbow, Abnormal rib morphology, Pectus carinatum, Radioulna... |
ORPHA:3268 |
Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Neonatal respiratory distress, Atelectasis, Dyspnea, Tachypnea, Pulmonary e... |
OMIM:267450 |
Cutis Laxa, Neonatal, With Marfanoid Phenotype |
|
Emphysema |
OMIM:614100 |
Poland Syndrome |
|
Syndactyly, Unilateral oligodactyly, Unilateral brachydactyly, Rib fusion, Hemivertebrae, Short r... |
OMIM:173800 |
Alpha-1-Antitrypsin Deficiency |
|
Emphysema, Hepatitis |
ORPHA:60 |
Tracheobronchopathia Osteochondroplastica |
|
Recurrent respiratory infections, Abnormal bronchus morphology, Pneumonia, Bronchitis, Productive... |
ORPHA:3348 |
Cutis Laxa-Marfanoid Syndrome |
|
Emphysema |
ORPHA:171719 |
Birt-Hogg-Dubé Syndrome |
|
Emphysema, Pneumothorax, Pulmonary sequestration |
ORPHA:122 |
Autosomal Dominant Spondylocostal Dysostosis |
|
Short neck, Missing ribs, Hyperlordosis, Abnormal sacrum morphology, Short thorax, Abnormal rib m... |
ORPHA:1797 |
Immunodeficiency 51 |
|
Recurrent respiratory infections, Recurrent skin infections, Pneumonia, Eczema, Pustule, Chronic ... |
OMIM:613953 |
Recurrent Respiratory Papillomatosis |
|
Respiratory distress, Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract in... |
ORPHA:60032 |
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification |
|
Emphysema |
OMIM:210050 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Lymphopenia, Aplasia of the thymus, Recurrent bronchopulmonary infections, Recurrent pneumonia, B... |
OMIM:242700 |
C1Q Deficiency 2 |
|
Chilblains, Discoid lupus rash, Atelectasis, Bronchiectasis, Arthritis, Recurrent otitis media, R... |
OMIM:620321 |
Spondylometaphyseal Dysplasia, Type A4 |
|
Brachydactyly, Ovoid vertebral bodies, Coxa valga, Metaphyseal sclerosis, Enlargement of the cost... |
OMIM:609052 |
Spondylometaphyseal Dysplasia, Corner Fracture Type |
|
Ovoid vertebral bodies, Hypoplasia of the odontoid process, Coxa vara, Pectus carinatum, Hypercon... |
OMIM:184255 |
Asbestos Intoxication |
|
Reduced forced vital capacity, Nonproductive cough, Diffuse reticular or finely nodular infiltrat... |
ORPHA:2302 |
Meconium Aspiration Syndrome |
|
Respiratory distress, Abnormal pulmonary thoracic imaging finding, Atelectasis, Neonatal asphyxia... |
ORPHA:70588 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Abnormal pulmonary thoracic imaging finding, Crackles, Atelectasis, Hypersensitivity pneumonitis,... |
ORPHA:2902 |
Becker Nevus Syndrome |
|
Pectus excavatum, Kyphosis, Abnormal tibia morphology, Rib fusion, Pectus carinatum, Supernumerar... |
ORPHA:64755 |
Acute Interstitial Pneumonia |
|
Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Crackles, Ground-... |
ORPHA:79126 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Crazy paving pattern, Apnea, Nodular pattern on pulmonary HRCT, Tachypnea, ... |
OMIM:610921 |
Pulmonary Nodular Lymphoid Hyperplasia |
|
Nodular pattern on pulmonary HRCT, Ground-glass opacification, Dyspnea, Plasmacytosis, Cough |
ORPHA:60026 |
Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Pneumonia, Reduced forced expiratory volume in one second, Respiratory tract infection, Dyspnea, ... |
ORPHA:1303 |
Ciliary Dyskinesia, Primary, 1 |
|
Nasal polyposis, Pneumonia, Asplenia, Atelectasis, Absent outer dynein arms, Bronchiectasis, Immo... |
OMIM:244400 |
Heart Defects-Limb Shortening Syndrome |
|
Kyphosis, Abnormal rib morphology, Abnormal form of the vertebral bodies, Narrow chest, Abnormal ... |
ORPHA:1354 |
Infant Acute Respiratory Distress Syndrome |
|
Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemia, Respira... |
ORPHA:70587 |
Mounier-Kühn Syndrome |
|
Recurrent respiratory infections, Pneumonia, Bronchitis, Recurrent bronchopulmonary infections, T... |
ORPHA:3347 |
Sprengel Deformity |
|
Rib segmentation abnormalities, Cervical segmentation defect, Hemivertebrae, Scoliosis, Sprengel ... |
OMIM:184400 |
Endosteal Hyperostosis, Worth Type |
|
Sclerotic vertebral body, Abnormal rib morphology, Abnormal form of the vertebral bodies, Clavicu... |
ORPHA:2790 |
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Abnormal rib morphology |
ORPHA:2435 |
Ciliary Dyskinesia, Primary, 42 |
|
Nasal polyposis, Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchi... |
OMIM:618695 |
Spondylometaphyseal Dysplasia, A4 Type |
|
Platyspondyly, Flared, irregular rib ends, Coxa vara, Short palm |
ORPHA:168555 |
Thoracolaryngopelvic Dysplasia |
|
Metaphyseal widening, Irregular chondrocostal junctions, Bell-shaped thorax, Narrow pelvis bone, ... |
OMIM:187760 |
Idiopathic Achalasia |
|
Wheezing, Recurrent aspiration pneumonia, Bronchitis, Cough |
ORPHA:930 |
Pulmonary Blastoma |
|
Pleuropulmonary blastoma, Dyspnea, Recurrent pneumonia, Pulmonary infiltrates, Cough |
ORPHA:64741 |
Hypophosphatasia |
|
Anemia, Emphysema, Respiratory insufficiency |
ORPHA:436 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Crackles, ... |
OMIM:610978 |
Femoral-Facial Syndrome |
|
Short femur, Abnormal sacrum morphology, Abnormal rib morphology, Rib fusion, Coxa vara, Abnormal... |
ORPHA:1988 |
Kyphomelic Dysplasia |
|
Bowing of the long bones, Anterior rib cupping, Missing ribs, Lateral clavicle hook, Short thorax... |
ORPHA:1801 |
Ciliary Dyskinesia, Primary, 9 |
|
Neonatal respiratory distress, Pneumonia, Absent outer dynein arms, Bronchiectasis, Decreased nas... |
OMIM:612444 |
Autosomal Dominant Brachyolmia |
|
Kyphoscoliosis, Increased vertebral height, Short thorax, Platyspondyly, Abnormal metaphysis morp... |
ORPHA:93304 |
Bronchogenic Cyst |
|
Abnormal pulmonary thoracic imaging finding, Pulmonary cyst, Pneumonia, Abnormal pleura morpholog... |
ORPHA:2357 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
Pneumonia, Recurrent upper respiratory tract infections, Atopic dermatitis, T lymphocytopenia, Ab... |
OMIM:618806 |
Young Syndrome |
|
Recurrent sinopulmonary infections, Congenital pulmonary airway malformation, Bronchiectasis, Rec... |
OMIM:279000 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Neonatal death, Bilateral lung agenesis, Tracheal atresia, Respiratory insufficiency |
OMIM:601612 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Superior rib anomalies, Abnormality of the cervical spine |
OMIM:307500 |
Fanconi Renotubular Syndrome 5 |
|
Decreased DLCO, Emphysema, Pulmonary fibrosis, Lung adenocarcinoma |
OMIM:618913 |
Mesomelic Dysplasia, Kantaputra Type |
|
Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal rib morphology, ... |
ORPHA:1836 |
Jung Syndrome |
|
Recurrent respiratory infections, Telecanthus, Abnormal form of the vertebral bodies, Tracheal st... |
ORPHA:2321 |
Bronchiectasis With Or Without Elevated Sweat Chloride 3 |
|
Bronchiectasis, Chronic bronchitis |
OMIM:613071 |
Bronchiectasis With Or Without Elevated Sweat Chloride 2 |
|
Bronchiectasis, Chronic bronchitis |
OMIM:613021 |
Bronchiectasis With Or Without Elevated Sweat Chloride 1 |
|
Bronchiectasis, Chronic bronchitis |
OMIM:211400 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral fusion, Abnormal odontoid process morphology, Block vertebrae, Missing ribs, Pectus exc... |
OMIM:613686 |
Primary Ciliary Dyskinesia |
|
Recurrent sinopulmonary infections, Neonatal respiratory distress, Nasal polyposis, Peribronchova... |
ORPHA:244 |
Combined Immunodeficiency, X-Linked |
|
Sinusitis, Pneumonia, Decreased proportion of CD8-positive T cells, Otitis media, Decreased propo... |
OMIM:312863 |
Immunodeficiency 13 |
|
Lymphopenia, Nasal polyposis, Recurrent upper respiratory tract infections, Bronchiolitis obliter... |
OMIM:615518 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Anemia, Pulmonary fibrosis, Emphysema, Lymphopenia, Thrombocytopenia |
OMIM:620365 |
Immunodeficiency 89 And Autoimmunity |
|
Pulmonary bulla, Pleural thickening, Asthma, Bronchiectasis, Hypochromic microcytic anemia, Crohn... |
OMIM:619632 |
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Lateral clavicle hook, Postaxial hand polydactyly, Postaxial foot polydactyly, Trident acetabulum... |
OMIM:617405 |
Metatropic Dysplasia |
|
Abnormal metaphyseal vascular invasion, Enlarged joints, Long coccyx, Narrow greater sciatic notc... |
OMIM:156530 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Rib segmentation abnormalities, Finger syndactyly, Abnormal intervertebral disk morphology, Campt... |
ORPHA:2311 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Bronchiolitis, Atelectasis, Pulmonary fibrosis, Exertional dyspnea |
ORPHA:254361 |
Ciliary Dyskinesia, Primary, 11 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... |
OMIM:612649 |
Ciliary Dyskinesia, Primary, 44 |
|
Neonatal respiratory distress, Reduced forced expiratory volume in one second, Reduced forced vit... |
OMIM:618781 |
Tracheal Agenesis |
|
Aplasia/Hypoplasia of the lungs, Tracheal atresia, Respiratory insufficiency |
ORPHA:3346 |
Ciliary Dyskinesia, Primary, 28 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Dynein arm defect of respiratory... |
OMIM:615505 |
Immunodeficiency 104 |
|
Eczema, Pneumonia, Splenomegaly, Chronic mucocutaneous candidiasis, T lymphocytopenia, Otitis med... |
OMIM:608971 |
Interstitial Lung Disease 1 |
|
Nonspecific interstitial pneumonia, Crackles, Intralobular septal thickening, Cough, Dyspnea, Gro... |
OMIM:619611 |
Muscular Hypertonia, Lethal |
|
Respiratory distress, Pneumonia |
OMIM:254120 |
Idiopathic Pulmonary Fibrosis |
|
Crackles, Ground-glass opacification, Bronchiectasis, Abnormal pulmonary interstitial morphology,... |
ORPHA:2032 |
Metatropic Dysplasia |
|
Abnormal intervertebral disk morphology, Camptodactyly of finger, Kyphosis, Abnormal rib morpholo... |
ORPHA:2635 |
Acromesomelic Dysplasia, Maroteaux Type |
|
Bowing of the long bones, Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the v... |
ORPHA:40 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Cervical kyphosis, Tachypnea, Tracheal calcification, Gastroesophageal reflux, Hypoplastic cervic... |
ORPHA:79345 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Broad toe, Lumbar hyperlordosis, Enlarged metacarpal epiphyses, Cupped ribs, Enlarged epiphyses o... |
OMIM:609616 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type |
|
Lumbar hyperlordosis, Flat capital femoral epiphysis, Pectus carinatum, Genu valgum, Irregular ve... |
OMIM:609223 |
Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Aspiration pneumonia |
OMIM:619477 |
Common Variable Immunodeficiency |
|
Recurrent respiratory infections, Hemolytic anemia, Pneumonia, Autoimmune thrombocytopenia, Splen... |
ORPHA:1572 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Autoimmune hemolytic anemia, Glomerulonephritis, Pneumonia, Plasmacytosis, Lymphopenia |
OMIM:247800 |
Acropectorovertebral Dysplasia |
|
Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho... |
OMIM:102510 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Metaphyseal dysplasia, Short metacarpal, Lumbar hyperlordosis, Hypoplastic sacrum, Enlargement of... |
OMIM:271650 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... |
ORPHA:174 |
Brachyolmia, Maroteaux Type |
|
Pectus excavatum, Short thorax, Abnormal form of the vertebral bodies, Platyspondyly, Scoliosis |
ORPHA:93302 |
Hypomandibular Faciocranial Dysostosis |
|
Recurrent respiratory infections, Death in infancy, Craniosynostosis, Upslanted palpebral fissure... |
ORPHA:1790 |
Hypocomplementemic Urticarial Vasculitis |
|
Episcleritis, Skin rash, Dyspnea, Splenomegaly, Emphysema, Uveitis, Restrictive ventilatory defec... |
ORPHA:36412 |
Pendred Syndrome |
|
Hyperparathyroidism, Sensorineural hearing impairment, Hypoplasia of the cochlea, Respiratory ins... |
ORPHA:705 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Dysplastic iliac wing, Lumbar hyperlordosis, Metaphyseal spurs, Ovoid vertebral bodies, Bowing of... |
OMIM:608728 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Recurrent respiratory infections, Precocious puberty, Sensorineural hearing impairment, Aplasia/H... |
ORPHA:2637 |
Idiopathic Acute Eosinophilic Pneumonia |
|
Abnormal eosinophil morphology, Abnormal pleura morphology, Respiratory insufficiency, Pulmonary ... |
ORPHA:724 |
Ciliary Dyskinesia, Primary, 23 |
|
Neonatal respiratory distress, Productive cough, Recurrent pneumonia, Bronchiectasis, Respiratory... |
OMIM:615451 |
Immunodeficiency 48 |
|
Recurrent respiratory infections, Pneumonia, Absence of CD8-positive T cells, Splenomegaly, Eczem... |
OMIM:269840 |
Ciliary Dyskinesia, Primary, 15 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Nasal polyposis, Cough, Wheezing... |
OMIM:613808 |
Vacterl/Vater Association |
|
Bifid scrotum, Low-set, posteriorly rotated ears, Hypoplasia of penis, Multicystic kidney dysplas... |
ORPHA:887 |
Granulomatosis With Polyangiitis |
|
Subglottic stenosis, Sinusitis, Diffuse alveolar hemorrhage, Localized pulmonary hemorrhage, Resp... |
OMIM:608710 |
Fibrochondrogenesis 2 |
|
Thoracic hypoplasia, Hypoplastic ilia, Cupped ribs, Metaphyseal widening, Hypoplastic pubic bone,... |
OMIM:614524 |
Becker Nevus Syndrome |
|
Pectus excavatum, Cervical ribs, Hemivertebrae, Scoliosis |
OMIM:604919 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Short metacarpal, Osteoarthritis, Abnormal joint morphology, Abnormal carpal morphology, Short me... |
ORPHA:93351 |
Spondyloepiphyseal Dysplasia Tarda, Kohn Type |
|
Abnormality of the knee, Platyspondyly, Abnormality of the ankle, Bilateral coxa valga, Abnormal ... |
ORPHA:163665 |
Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Dyspnea, Upper airway obstruction, Aspiration pneumonia |
ORPHA:141152 |
Netherton Syndrome |
|
Recurrent respiratory infections, Skin rash, Eczema, Asthma, Erythroderma, Emphysema |
ORPHA:634 |
Keutel Syndrome |
|
Recurrent respiratory infections, Short stature, Pulmonary artery stenosis, Recurrent sinusitis, ... |
ORPHA:85202 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Crackles, Ground-glass opacification, Atelectasis, Dyspnea, Asthma, Wheezing, Abnormal pulmonary ... |
OMIM:620233 |
Waardenburg Syndrome Type 3 |
|
Tracheomalacia, Atelectasis |
ORPHA:896 |
Osteogenesis Imperfecta, Type Ix |
|
Beaded ribs, Pectus excavatum, Kyphosis, Pectus carinatum, Platyspondyly, Scoliosis, Wormian bone... |
OMIM:259440 |
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus |
|
Absent central microtubular pair morphology of respiratory motile cilia, Recurrent pneumonia, Bro... |
OMIM:620032 |
Tetraamelia-Multiple Malformations Syndrome |
|
Multicystic kidney dysplasia, Abnormally ossified vertebrae, Cryptorchidism, Abnormal lung lobati... |
ORPHA:3301 |
Ciliary Dyskinesia, Primary, 26 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Absent outer dynein arms, Bronch... |
OMIM:615500 |
Ciliary Dyskinesia, Primary, 20 |
|
Recurrent respiratory infections, Productive cough, Atelectasis, Pulmonary artery stenosis, Recur... |
OMIM:615067 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Short stature, Hyperlordosis, Cryptorchidism, Sensorineural heari... |
ORPHA:3085 |
Spondylometaphyseal Dysplasia, Axial |
|
Anterior rib cupping, Proximal femoral metaphyseal irregularity, Coxa vara, Platyspondyly, Narrow... |
OMIM:602271 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Hypoplasia of the ulna, Tapered finger, Short neck, Multiple joint dislocation, Hip dislocation, ... |
OMIM:618395 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Laryngeal stenosis, Severe short stature, Abnormal bronchus morphology, Hyperlordosis, Abdominal ... |
ORPHA:93352 |
Pulmonary Alveolar Proteinosis, Acquired |
|
Recurrent respiratory infections, Brain abscess, Lung abscess, Pneumonia, Dyspnea, Intraalveolar ... |
OMIM:610910 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Vertebral segmentation defect, Abnormal rib morphology, Short neck |
ORPHA:2578 |
Anaplastic Thyroid Carcinoma |
|
Respiratory distress, Dyspnea, Laryngotracheal stenosis, Tracheoesophageal fistula, Upper airway ... |
ORPHA:142 |
Familial Hyperprolactinemia |
|
Hemorrhagic ovarian cyst, Female hypogonadism, Menorrhagia, Infertility, Oligomenorrhea, Amenorrhea |
ORPHA:397685 |
Bardet-Biedl Syndrome 16 |
|
Respiratory distress, Recurrent respiratory infections, Short stature, External genital hypoplasi... |
OMIM:615993 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Small scrotum, Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation te... |
ORPHA:98754 |
Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Ciliary Dyskinesia, Primary, 45 |
|
Recurrent respiratory infections, Bronchiectasis, Absent inner and outer dynein arms, Immotile ci... |
OMIM:618801 |
Isolated Klippel-Feil Syndrome |
|
Short neck, Abnormal sacrum morphology, Abnormal rib morphology, Abnormal shoulder morphology, Ab... |
ORPHA:2345 |
Ciliary Dyskinesia, Primary, 30 |
|
Recurrent respiratory infections, Nasal polyposis, Cough, Absent outer dynein arms, Asthma, Bronc... |
OMIM:616037 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Small scrotum, Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation te... |
ORPHA:98793 |
Ciliary Dyskinesia, Primary, 5 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Nasal polyposis, Recurrent pneum... |
OMIM:608647 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Small scrotum, Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation te... |
ORPHA:177904 |
Epiphyseal Dysplasia, Multiple, 6 |
|
Abnormality of the knee, Flat distal femoral epiphysis, Flat capital femoral epiphysis, Osteoarth... |
OMIM:614135 |
Ciliary Dyskinesia, Primary, 39 |
|
Decreased nasal nitric oxide, Bronchiectasis, Cough, Recurrent otitis media, Recurrent lower resp... |
OMIM:618254 |
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes |
|
Short stature, Kyphoscoliosis, Secondary amenorrhea, Irregular vertebral endplates, Platyspondyly... |
OMIM:612847 |
Congenital Tracheomalacia |
|
Apnea, Tracheobronchomalacia, Cough, Emphysema, Neonatal respiratory distress, Intercostal retrac... |
ORPHA:95430 |
Microlissencephaly |
|
Pneumonia |
ORPHA:1083 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Small scrotum, Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation te... |
ORPHA:177901 |
Ciliary Dyskinesia, Primary, 27 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... |
OMIM:615504 |
Hurler-Scheie Syndrome |
|
Recurrent respiratory infections, Short stature, Camptodactyly of finger, Kyphosis, Contracture o... |
OMIM:607015 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Respiratory distress, Telecanthus, Neonatal respiratory distress, Hypospadias, Abnormal pinna mor... |
OMIM:217980 |
Tracheobronchomegaly |
|
Recurrent bronchopulmonary infections, Bronchiectasis |
OMIM:275300 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Vertebral fusion, Block vertebrae, Short neck, Missing ribs, Rib fusion, Hemivertebrae, Thin ribs... |
OMIM:271520 |
Ciliary Dyskinesia, Primary, 32 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, B... |
OMIM:616481 |
19P13.3 Microduplication Syndrome |
|
Epicanthus, Telecanthus, Unilateral cryptorchidism, Posteriorly rotated ears, Kyphoscoliosis, Pre... |
ORPHA:447980 |
Diaphanospondylodysostosis |
|
Short neck, Missing ribs, Short thorax, Narrow pelvis bone, Enlarged thorax, Absent or minimally ... |
ORPHA:66637 |
Ciliary Dyskinesia, Primary, 14 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Absent inner dynein arms, Cough,... |
OMIM:613807 |
Acrocapitofemoral Dysplasia |
|
Cone-shaped metacarpal epiphyses, Abnormal femoral neck morphology, Ovoid vertebral bodies, Hyper... |
ORPHA:63446 |
Ciliary Dyskinesia, Primary, 19 |
|
Recurrent respiratory infections, Nasal polyposis, Bronchiectasis, Absent inner and outer dynein ... |
OMIM:614935 |
Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Recurrent respiratory infections, Neonatal respiratory distress, Decreased nasal nitric oxide, Br... |
OMIM:300991 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Radial bowing, Irregular sclerotic endplates, Ulnar bowing, Osteoarthritis, Flared metaphysis, Co... |
OMIM:602111 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Brachydactyly, Club-shaped proximal femur, Anterior rib cupping, Hyperlordosis, Hypoplasia of the... |
OMIM:184250 |
Myotubular Myopathy With Abnormal Genital Development |
|
Bifid scrotum, Respiratory distress, Death in infancy, Hypospadias, Unilateral cryptorchidism, Bi... |
OMIM:300219 |
Ciliary Dyskinesia, Primary, 34 |
|
Neonatal respiratory distress, Reduced respiratory ciliary beating frequency, Absent central micr... |
OMIM:617091 |
Whim Syndrome |
|
Sinusitis, Severe periodontitis, Pneumonia, Respiratory tract infection, Atelectasis, Lymphadenit... |
ORPHA:51636 |
Geleophysic Dysplasia 3 |
|
Subglottic stenosis, Short stature, Pneumonia, Limited elbow movement, Limited wrist movement, Dy... |
OMIM:617809 |
Brachyolmia Type 1, Toledo Type |
|
Back pain, Broad tibial metaphyses, Kyphoscoliosis, Short neck, Precocious costochondral ossifica... |
OMIM:271630 |
Ataxia-Telangiectasia |
|
Recurrent respiratory infections, Diabetes mellitus, Prematurely aged appearance, Telangiectasia ... |
ORPHA:100 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Enlarged joints, Irregular, rachitic-like metaphyses, Short neck, Coxa vara, Pectus carinatum, Ha... |
OMIM:184252 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Small scrotum, External genital hypoplasia, Xerostomia, Clitoral hypoplasia, Premature adrenarche... |
ORPHA:398079 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Short metacarpal, Ovoid vertebral bodies, Cupped ribs, Metaphyseal widening, Coxa vara, Tibial bo... |
OMIM:608940 |
Pneumocystosis |
|
Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Abnormal neutrophil... |
ORPHA:723 |
Ciliary Dyskinesia, Primary, 46 |
|
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent pneumoni... |
OMIM:619436 |
Plin1-Related Familial Partial Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Hyperinsulinemia, Abnormal circulating hormone concentration... |
ORPHA:280356 |
Ciliary Dyskinesia, Primary, 12 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, B... |
OMIM:612650 |
Thanatophoric Dysplasia, Type Ii |
|
Small abnormally formed scapulae, Hypoplastic ilia, Wide-cupped costochondral junctions, Flared m... |
OMIM:187601 |
Ciliary Dyskinesia, Primary, 35 |
|
Neonatal respiratory distress, Nasal polyposis, Productive cough, Recurrent pneumonia, Bronchiect... |
OMIM:617092 |
Axial Spondylometaphyseal Dysplasia |
|
Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Proximal femoral metaphyseal irregularit... |
ORPHA:168549 |
Cerebrofaciothoracic Dysplasia |
|
Short neck, Rib fusion, Hemivertebrae, Vertebral segmentation defect, Narrow chest, Bifid ribs, S... |
ORPHA:1394 |
Prader-Willi Syndrome |
|
Small scrotum, Decreased response to growth hormone stimulation test, External genital hypoplasia... |
ORPHA:739 |
Ciliary Dyskinesia, Primary, 13 |
|
Absent inner dynein arms, Absent outer dynein arms, Bronchiectasis, Immotile cilia, Recurrent sin... |
OMIM:613193 |
Ciliary Dyskinesia, Primary, 17 |
|
Recurrent respiratory infections, Dynein arm defect of respiratory motile cilia, Bronchiectasis, ... |
OMIM:614679 |
Ciliary Dyskinesia, Primary, 41 |
|
Recurrent otitis media, Impaired nasal mucociliary clearance, Bronchiectasis, Recurrent sinusitis |
OMIM:618449 |
Xp22.3 Microdeletion Syndrome |
|
Short stature, Hypogonadotropic hypogonadism, Decreased fertility, Secondary amenorrhea, Polycyst... |
ORPHA:1643 |
Kuskokwim Syndrome |
|
Abnormal clavicle morphology, Aplasia/Hypoplasia of the patella, Abnormal form of the vertebral b... |
ORPHA:1149 |
Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Enlarged joints, Pectus excavatum, Delayed epiphyseal ossification, Genu valgum, Cutaneous syndac... |
ORPHA:166024 |
Granulomatous Disease, Chronic, X-Linked |
|
Recurrent bacterial skin infections, Osteomyelitis, Liver abscess, Discoid lupus rash, Atelectasi... |
OMIM:306400 |
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome |
|
Aspiration pneumonia |
OMIM:609528 |
Renal Hypodysplasia/Aplasia 4 |
|
Respiratory failure, Pulmonary hypoplasia |
OMIM:619887 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... |
ORPHA:90793 |
Ciliary Dyskinesia, Primary, 22 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Nasal polyposis, Bronchiectasis,... |
OMIM:615444 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... |
OMIM:610913 |
Temple Syndrome |
|
Short stature, Decreased response to growth hormone stimulation test, Precocious puberty, Cryptor... |
ORPHA:254516 |
Ciliary Dyskinesia, Primary, 3 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Decreased nasal nitric oxide, Br... |
OMIM:608644 |
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis |
|
Hypoplasia of penis, Decreased response to growth hormone stimulation test, Congenital hypothyroi... |
OMIM:601427 |
Functioning Gonadotropic Adenoma |
|
Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose... |
ORPHA:91348 |
Prader-Willi Syndrome |
|
Small scrotum, Decreased response to growth hormone stimulation test, External genital hypoplasia... |
OMIM:176270 |
Jeune Syndrome |
|
Abnormal clavicle morphology, Toe syndactyly, Postaxial hand polydactyly, Short thorax, Abnormal ... |
ORPHA:474 |
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph... |
ORPHA:217563 |
Rigid Spine Syndrome |
|
Abnormality on pulmonary function testing, Pneumonia, Respiratory insufficiency |
ORPHA:97244 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Decreased circulating ... |
OMIM:228300 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Short neck, Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Abnorm... |
ORPHA:2234 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Pneumonia, Eosinophilia, Asthma, Atopic dermatitis, Bronchiectasis, Ulcerative colitis, Colonic e... |
OMIM:617638 |
Meier-Gorlin Syndrome 4 |
|
Emphysema |
OMIM:613804 |
Craniodiaphyseal Dysplasia |
|
Abnormal rib morphology, Diaphyseal thickening |
ORPHA:1513 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Small scrotum, External genital hypoplasia, Xerostomia, Clitoral hypoplasia, Gastroesophageal ref... |
ORPHA:398069 |
Symbrachydactyly Of Hands And Feet |
|
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Abnormality of the humerus, Aplasia... |
ORPHA:1570 |
Niemann-Pick Disease, Type B |
|
Recurrent respiratory infections, Bone-marrow foam cells, Dyspnea, Thrombocytopenia, Splenomegaly... |
OMIM:607616 |
Female Infertility Due To Oocyte Meiotic Arrest |
|
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... |
ORPHA:488191 |
Cutis Laxa, Autosomal Recessive, Type Ia |
|
Recurrent respiratory infections, Emphysema |
OMIM:219100 |
Frontometaphyseal Dysplasia 2 |
|
Subglottic stenosis, Hip contracture, Congenital hip dislocation, Abnormal pinna morphology, Feed... |
OMIM:617137 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Sparse eyelashes, Abnormal pinna morphology, Kyphoscoliosis, Rhizomelia, Sparse eyebrow, Postnata... |
OMIM:302960 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Postaxial polydactyly, Lateral clavicle hook, Bell-shaped thorax, Short long bone, Thoracic dyspl... |
OMIM:615633 |
Infantile Osteopetrosis With Neuroaxonal Dysplasia |
|
Pneumonia |
ORPHA:85179 |
Chronic Beryllium Disease |
|
Lymphocytic interstitial pneumonia, Ground-glass opacification, Hypersensitivity pneumonitis, Dys... |
ORPHA:133 |
Larsen-Like Syndrome, Lethal Type |
|
Joint dislocation, Tracheomalacia, Multiple joint dislocation, Abnormal cartilage matrix, Respira... |
OMIM:245650 |
Ciliary Dyskinesia, Primary, 16 |
|
Absent outer dynein arms, Bronchiectasis, Abnormal ciliary motility, Chronic rhinitis, Chronic ot... |
OMIM:614017 |
Immunodeficiency 75 With Lymphoproliferation |
|
Recurrent respiratory infections, Decreased proportion of class-switched memory B cells, Bronchie... |
OMIM:619126 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Abnormal clavicle morphology, Bowing of the long bones, Proximal placement of thumb, Short neck, ... |
ORPHA:93267 |
Juberg-Hayward Syndrome |
|
Toe syndactyly, Short thumb, Hypoplasia of the radius, Abnormal rib morphology, Abnormal finger m... |
ORPHA:2319 |
Pontine Tegmental Cap Dysplasia |
|
Ankle clonus, Rib fusion, Hemivertebrae, Scoliosis |
OMIM:614688 |
Osteogenesis Imperfecta, Type Xv |
|
Platyspondyly, Scoliosis, Thin ribs |
OMIM:615220 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormal clavicle morphology, Short neck, Pectus excavatum, Hyperlordosis, Kyphosis, Abnormal rib... |
ORPHA:2522 |
Surfactant Metabolism Dysfunction, Pulmonary, 5 |
|
Ground-glass opacification, Dyspnea, Intraalveolar phospholipid accumulation, Respiratory insuffi... |
OMIM:614370 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Recurrent respiratory infections, Osteomyelitis, Skin rash, Eczema, Eosinophilia, Atelectasis, Co... |
ORPHA:2314 |
Thoracic Dysostosis, Isolated |
|
Pectus excavatum, Short ribs, Bell-shaped thorax |
OMIM:187750 |
Nocardiosis |
|
Respiratory distress, Liver abscess, Lymphadenitis, Nonproductive cough, Conjunctivitis, Emphysem... |
ORPHA:31204 |
Igg4-Related Thyroid Disease |
|
Pancreatic fibrosis, Thyrotoxicosis with diffuse goiter, Abnormal pituitary gland morphology, Gra... |
ORPHA:64744 |
Thoracomelic Dysplasia |
|
Short neck, Hyperlordosis, Elbow dislocation, Abnormal fibula morphology, Genu valgum, Bell-shape... |
ORPHA:1803 |
Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
|
Slender long bone, Abnormal pelvic girdle bone morphology, Abnormal rib morphology |
ORPHA:1506 |
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Back pain, Enlarged epiphyses, Proximal placement of thumb, Short neck, Coxa vara, Pectus carinat... |
OMIM:613330 |
Myotonia With Skeletal Abnormalities And Mental Retardation |
|
Kyphoscoliosis, Irregular femoral epiphysis, Vertebral wedging, Pectus carinatum, Bell-shaped tho... |
OMIM:255710 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Pneumonia, Purulent rhinitis, Arthritis, T lymphocytopenia, Conjunctivitis, B lymphocytopenia, Ot... |
OMIM:601457 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Low-set, posteriorly rotated ears, Epicanthus, Precocious puberty, Cryptorchidism, Synophrys, Fee... |
ORPHA:3306 |
Pulmonary Hemosiderosis |
|
Recurrent intrapulmonary hemorrhage, Respiratory insufficiency, Iron deficiency anemia, Pulmonary... |
OMIM:178550 |
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
|
Precocious puberty, Ptosis, Hypergonadotropic hypogonadism, Polycystic ovaries |
ORPHA:2229 |
Cortisone Reductase Deficiency 1 |
|
Precocious puberty, Infertility, Oligomenorrhea |
OMIM:604931 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Premature thelarche, Ambiguous genitalia, female, Premature... |
ORPHA:90795 |
Aspergillosis |
|
Sinusitis, Diffuse reticular or finely nodular infiltrations, Neutropenia, Cough, Infectious ence... |
ORPHA:1163 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Neutrophilia, Pneumonia, Recurrent otitis media, Periodontitis, Reduction of neutrophil motility,... |
OMIM:266265 |
Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Neutrophilia, Pneumonia, Nonproductive cough, Dyspnea, Pneumothorax, Tachyp... |
ORPHA:36238 |
Diastrophic Dysplasia |
|
Hip contracture, Lumbar hyperlordosis, Cervical kyphosis, Kyphoscoliosis, Costal cartilage calcif... |
OMIM:222600 |
Thoracomelic Dysplasia |
|
Bell-shaped thorax, Short ribs |
OMIM:273740 |
Ciliary Dyskinesia, Primary, 25 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Productive cough, Recurrent pneu... |
OMIM:615482 |
Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Anterior rib cupping, Dumbbell-shaped long bone, Thoracic hypoplasia, Later... |
OMIM:269250 |
Osteoarthritis With Mild Chondrodysplasia |
|
Heberden's node, Knee osteoarthritis, Schmorl's node, Irregular vertebral endplates, Platyspondyl... |
OMIM:604864 |
Fraser Syndrome |
|
Subglottic stenosis, Laryngeal stenosis, Hypoplasia of penis, Small scrotum, Abnormal lung lobati... |
ORPHA:2052 |
Pseudoachondroplasia |
|
Genu recurvatum, Spatulate ribs, Delayed epiphyseal ossification, Metaphyseal widening, Osteoarth... |
OMIM:177170 |
Immunodeficiency, Common Variable, 1 |
|
Pneumonia, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Neutropenia in presence of anti-neu... |
OMIM:607594 |
Laryngotracheoesophageal Cleft Type 4 |
|
Tracheal stenosis, Respiratory insufficiency, Tracheoesophageal fistula, Abnormal form of the ver... |
ORPHA:93941 |
Holt-Oram Syndrome |
|
Finger syndactyly, Abnormal clavicle morphology, Down-sloping shoulders, Absent thumb, Abnormalit... |
ORPHA:392 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Short neck, Abnormality of the elbow, Abnormal rib morphology, Abnormal form of the vertebral bod... |
ORPHA:1486 |
Cutis Laxa, Autosomal Dominant 1 |
|
Dyspnea, Emphysema, Bronchiectasis, Peripheral pulmonary artery stenosis |
OMIM:123700 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Thoracic scoliosis, Kyphoscoliosis, Short neck, Squared iliac bones, Small hand, Rib fusion, Hypo... |
OMIM:611209 |
Cd8 Deficiency, Familial |
|
Absence of CD8-positive T cells, Recurrent respiratory infections, Bronchiectasis |
OMIM:608957 |
Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Decreased response to growth hormone stimulation test, Precocious puberty, Pituitary adenoma, Adr... |
ORPHA:91354 |
Smith-Lemli-Opitz Syndrome |
|
Hypoplasia of penis, Feeding difficulties in infancy, Abnormal lung lobation, Abnormal form of th... |
ORPHA:818 |
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Recurrent respiratory infections, Nasal polyposis, Decreased nasal nitric oxide, Bronchiectasis, ... |
OMIM:620197 |
Fraser Syndrome 3 |
|
Hypoplasia of penis, Small scrotum, Abnormal lung lobation, Stillbirth, Low-set ears, Cryptophtha... |
OMIM:617667 |
Ciliary Dyskinesia, Primary, 38 |
|
Neonatal respiratory distress, Productive cough, Decreased nasal nitric oxide, Bronchiectasis, Ab... |
OMIM:618063 |
Sarcoidosis, Susceptibility To, 1 |
|
Pancytopenia, Dyspnea, Iridocyclitis, Emphysema, Splenomegaly, Bronchiectasis, Abnormal pulmonary... |
OMIM:181000 |
Diastrophic Dysplasia |
|
Joint dislocation, Abnormal clavicle morphology, Bowing of the long bones, Camptodactyly of finge... |
ORPHA:628 |
Lymphangioleiomyomatosis |
|
Recurrent respiratory infections, Atelectasis, Dyspnea, Pneumothorax, Pulmonary infiltrates, Rest... |
ORPHA:538 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Recurrent respiratory infections, Recurrent bacterial skin infections, Pneumonia, Asthma, Atopic ... |
ORPHA:217390 |
Ciliary Dyskinesia, Primary, 7 |
|
Recurrent pneumonia, Decreased nasal nitric oxide, Bronchiectasis, Restrictive ventilatory defect... |
OMIM:611884 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Short neck, Knee flexion contracture, Intercrural pterygium, Camptodactyly of toe, Pterygium, Dis... |
OMIM:265000 |
Larsen Syndrome |
|
Cervical kyphosis, Knee dislocation, Shallow orbits, Conductive hearing impairment, Spina bifida ... |
OMIM:150250 |
Distal Deletion 10P |
|
Low-set, posteriorly rotated ears, Hypoplasia of penis, Short stature, Cryptorchidism, Abnormalit... |
ORPHA:1580 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:265430 |
Microcephaly 30, Primary, Autosomal Recessive |
|
Epicanthus, Uplifted earlobe, Long palpebral fissure, Tracheal stenosis, Intrauterine growth reta... |
OMIM:620183 |
Dyggve-Melchior-Clausen Disease |
|
Glenoid fossa hypoplasia, Short neck, Coxa vara, Pectus carinatum, Broad ribs, Iliac crest serrat... |
ORPHA:239 |
Immunodeficiency 27A |
|
Increased inflammatory response, Abnormal bronchus physiology, Pneumonia, Splenomegaly, Leukocyto... |
OMIM:209950 |
Ciliary Dyskinesia, Primary, 24 |
|
Neonatal respiratory distress, Chronic pulmonary obstruction, Decreased nasal nitric oxide, Bronc... |
OMIM:615481 |
Surfactant Metabolism Dysfunction, Pulmonary, 4 |
|
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Ground-glass opaci... |
OMIM:300770 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Crazy paving pattern, C... |
ORPHA:264675 |
Ophthalmoplegia, External, With Rib And Vertebral Anomalies |
|
Missing ribs, Pectus excavatum, Pectus carinatum, Short ribs, Scoliosis, Pseudoarthrosis |
OMIM:618155 |
Isolated Agammaglobulinemia |
|
Recurrent respiratory infections, Recurrent cutaneous abscess formation, Sinusitis, Skin rash, Pn... |
ORPHA:229717 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Short neck, Narrow chest, Radial bowing, Dumbbell-shaped long bone, Flat acetabular roof, Short r... |
OMIM:151210 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat... |
ORPHA:95699 |
Spondylometaphyseal Dysplasia, Algerian Type |
|
Metaphyseal dysplasia, Lumbar hyperlordosis, Bowed humerus, Anterior rib cupping, Kyphoscoliosis,... |
OMIM:184253 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Respiratory failure requiring assisted ventilation, Dyspnea, Respiratory failure, Aspiration pneu... |
ORPHA:90117 |
Ciliary Dyskinesia, Primary, 2 |
|
Respiratory distress, Recurrent respiratory infections, Nasal polyposis, Sinusitis, Bronchiectasi... |
OMIM:606763 |
Scedosporiosis |
|
Pericarditis, Sinusitis, Arthralgia/arthritis, Pneumonia, Bronchitis, Osteomyelitis, Bronchial br... |
ORPHA:449280 |
Immunodeficiency 52 |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... |
OMIM:617514 |
Acute Lung Injury |
|
Respiratory distress, Acute pancreatitis, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea, Tachyp... |
ORPHA:178320 |
Temple Syndrome |
|
Posteriorly rotated ears, Short stature, Maturity-onset diabetes of the young, Precocious puberty... |
OMIM:616222 |
Tularemia |
|
Respiratory distress, Brain abscess, Abnormal pulmonary thoracic imaging finding, Skin rash, Pneu... |
ORPHA:3392 |
Immunodeficiency 32B |
|
Recurrent respiratory infections, Neutrophilia, Sinusitis, Pneumonia, Eosinophilia, Thrombocytope... |
OMIM:226990 |
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome |
|
Neonatal asphyxia, Bronchiectasis, Congenital laryngeal stridor |
ORPHA:2375 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Recurrent respiratory infections, Recurrent sinopulmonary infections, Splenomegaly, Bronchiectasi... |
OMIM:615513 |
Slc35A1-Cdg |
|
Respiratory distress, Pneumonia, Giant platelets, Hypoxemia, Neutropenia, Abnormal platelet granu... |
ORPHA:238459 |
Primary Pulmonary Hypoplasia |
|
Recurrent respiratory infections, Epicanthus, Neonatal respiratory distress, Apnea, Cyanosis, Ast... |
ORPHA:2257 |
Radio-Tartaglia Syndrome |
|
Epicanthus, Highly arched eyebrow, Long eyebrows, Precocious puberty, Conductive hearing impairme... |
OMIM:619312 |
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
|
Pectus excavatum, Hypoplastic distal segments of scapulae, Abnormal rib morphology |
OMIM:602196 |
46,Xx Testicular Difference Of Sex Development |
|
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries |
ORPHA:393 |
Retinal Dystrophy With Or Without Extraocular Anomalies |
|
Premature ovarian insufficiency, Pulmonary fibrosis, Secondary amenorrhea, Goiter |
OMIM:617175 |
Xp22.13P22.2 Duplication Syndrome |
|
Short stature, Recurrent upper respiratory tract infections, Polycystic ovaries, Scoliosis, Macro... |
ORPHA:284180 |
Perching Syndrome |
|
Respiratory distress, Cyanosis, Feeding difficulties, Scoliosis, Dysphagia |
OMIM:617055 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Maturity-onset diabetes of the young, Precocious puberty, Postnatal growth retardation, Feeding d... |
ORPHA:254531 |
Silver-Russell Syndrome |
|
Abnormality of male external genitalia, Low-set, posteriorly rotated ears, Hypospadias, Short sta... |
ORPHA:813 |
Retinal Dystrophy And Microvillus Inclusion Disease |
|
Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Bronc... |
OMIM:619446 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Craniosynostosis, Rib fusion, Hand polydactyly, Scoliosis, Abnormal vertebral morphology |
ORPHA:261197 |
Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Short neck, Abnormal rib morphology, Scoliosis, Cervical C2/C3 vertebral fusion, Sprengel anomaly... |
OMIM:118100 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
11 pairs of ribs, Metaphyseal cupping of proximal phalanges, Thin ribs, Metaphyseal cupping of me... |
OMIM:300863 |
Neonatal Alloimmune Neutropenia |
|
Neutropenia in presence of anti-neutropil antibodies, Pneumonia |
ORPHA:464370 |
Loeys-Dietz Syndrome 4 |
|
Emphysema, Pneumothorax, Eosinophilic infiltration of the esophagus |
OMIM:614816 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Barrel-shaped chest, Back pain, Lumbar hyperlordosis, Short neck, Hypoplastic iliac wing, Kyphosi... |
OMIM:313400 |
Greenberg Dysplasia |
|
Abnormally ossified vertebrae, Abnormal pelvis bone ossification, Anterior rib punctate calcifica... |
ORPHA:1426 |
White Forelock With Malformations |
|
Finger syndactyly, Abnormal rib morphology, Clinodactyly of the 5th finger, Sprengel anomaly, Spi... |
ORPHA:2475 |
Fusariosis |
|
Fasciitis, Sinusitis, Myositis, Abnormality of the spleen, Air crescent sign, Neutropenia, Brain ... |
ORPHA:228119 |
Combined Oxidative Phosphorylation Deficiency 51 |
|
Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia |
OMIM:619057 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Fluctuating splenomegaly, Bronchiectasi... |
OMIM:619220 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Sandal gap, Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Scolio... |
ORPHA:2180 |
Polyembryoma |
|
Abnormal circulating gonadotropin concentration, Isosexual precocious puberty, Abdominal pain, Ab... |
ORPHA:180229 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant |
|
Barrel-shaped chest, Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Avascular necrosis of the ... |
OMIM:184100 |
Severe Acute Respiratory Syndrome |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Acute infectio... |
ORPHA:140896 |
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion |
|
Low-set, posteriorly rotated ears, Precocious puberty, Postnatal growth retardation, Feeding diff... |
ORPHA:254525 |
Cystic Echinococcosis |
|
Abdominal symptom, Multiple pulmonary cysts, Abnormal pulmonary thoracic imaging finding, Pulmona... |
ORPHA:400 |
Immunodeficiency 95 |
|
Respiratory distress, Recurrent respiratory infections, Ground-glass opacification, Respiratory f... |
OMIM:619773 |
Caspase 8 Deficiency |
|
Recurrent sinopulmonary infections, Eczema, Pneumonia, Splenomegaly, Asthma, Decreased CD4:CD8 ratio |
OMIM:607271 |
Hydrolethalus |
|
Low-set, posteriorly rotated ears, Cryptorchidism, Low-set ears, Abnormal fallopian tube morpholo... |
ORPHA:2189 |
Basilicata-Akhtar Syndrome |
|
Epicanthus, Telecanthus, Abnormal pinna morphology, Precocious puberty, Feeding difficulties, Chr... |
OMIM:301032 |
Craniofacioskeletal Syndrome |
|
Absent gallbladder, Hypospadias, Posteriorly rotated ears, Short stature, Blepharophimosis, Crypt... |
OMIM:300712 |
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature |
|
Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Bronc... |
OMIM:615139 |
Mosaic Trisomy 14 |
|
Narrow chest, Abnormal rib morphology, Camptodactyly of finger, Short neck |
ORPHA:1703 |
Complement Factor B Deficiency |
|
Peritonitis, Pneumonia |
OMIM:615561 |
Chromosome Xp11.23-P11.22 Duplication Syndrome |
|
Medial flaring of the eyebrow, Posteriorly rotated ears, Precocious puberty, Synophrys, Overfolde... |
OMIM:300801 |
Dyggve-Melchior-Clausen Disease |
|
Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Tibial bowing, Femoral bo... |
OMIM:223800 |
Severe Combined Immunodeficiency, X-Linked |
|
Impaired lymphocyte transformation with phytohemagglutinin, Skin rash, Pneumonia, Recurrent pneum... |
OMIM:300400 |
Bainbridge-Ropers Syndrome |
|
Synophrys, Contracture of the proximal interphalangeal joint of the 4th finger, Vomiting, Gastroe... |
OMIM:615485 |
Ollier Disease |
|
Precocious puberty, Multiple enchondromatosis, Platyspondyly, Abnormal cartilage morphology |
ORPHA:296 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Decreased serum estradiol, Streak ovary, Premature ovarian insufficiency, Duplicated lacrimal pun... |
ORPHA:572333 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Absent gallbladder, Hypospadias, Posteriorly rotated ears, Short stature, Cryptorchidism, Bilater... |
ORPHA:163979 |
Lipodystrophy, Familial Partial, Type 3 |
|
Reduced subcutaneous adipose tissue, Prominent superficial veins, Maternal diabetes, Insulin-resi... |
OMIM:604367 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Recurrent respiratory infections, Abnormally low T cell receptor excision circle level, Monocytop... |
OMIM:618986 |
Septopreoptic Holoprosencephaly |
|
Abnormal rib morphology, Abnormal vertebral morphology |
ORPHA:280195 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Interstitial emphysema, Bronchiectasis, Inflammation of the large intestine, Pulmonary hypoplasia... |
OMIM:619708 |
Ovarian Hyperstimulation Syndrome |
|
Nausea and vomiting, Hemorrhagic ovarian cyst, Abdominal pain, Enlarged polycystic ovaries, Abdom... |
ORPHA:64739 |
Asherman Syndrome |
|
Metrorrhagia, Dysmenorrhea, Miscarriage, Abnormality of the menstrual cycle, Decreased fertility ... |
ORPHA:137686 |
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Genu varum, Lumbar hyperlordosis... |
OMIM:250420 |
Mccune-Albright Syndrome |
|
Hyperplasia of the Leydig cells, Hyperthyroidism, Elevated circulating growth hormone concentrati... |
ORPHA:562 |
Kbg Syndrome |
|
Syndactyly, Vertebral fusion, Short neck, Rib fusion, Vertebral arch anomaly, Cutaneous syndactyl... |
OMIM:148050 |
Smith-Mccort Dysplasia 1 |
|
Barrel-shaped chest, Short metacarpal, Multicentric femoral head ossification, Iliac crest serrat... |
OMIM:607326 |
Premature Ovarian Failure 21 |
|
Streak ovary, Precocious puberty in females, Secondary amenorrhea, Primary amenorrhea, Decreased ... |
OMIM:620311 |
Donohue Syndrome |
|
Precocious puberty, Postnatal growth retardation, Abdominal distention, Long penis, Hyperinsuline... |
OMIM:246200 |
Fibrochondrogenesis 1 |
|
Short neck, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Widely pate... |
OMIM:228520 |
19P13.12 Microdeletion Syndrome |
|
Epicanthus, Hypospadias, Craniosynostosis, Precocious puberty, Cryptorchidism, Synophrys, Externa... |
ORPHA:254346 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Multiple pterygia, Pectus excavatum, Rib fusion, Ante... |
ORPHA:2990 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Short stature, Maturity-onset diabetes of the young, Precocious puberty, Cryptorchidism, Postnata... |
ORPHA:96184 |
Congenital Respiratory-Biliary Fistula |
|
Tracheal stenosis |
ORPHA:2040 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Recurrent respiratory infections, Hemolytic anemia, Reticulocytosis, Anisocytosis, Atelectasis, L... |
OMIM:618278 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Bowing of the long bones, Radial bowing, Abnormally ossified vertebrae, Abnormal rib morphology, ... |
ORPHA:3035 |
Osteogenesis Imperfecta, Type Ii |
|
Crumpled long bones, Broad long bones, Beaded ribs, Tibial bowing, Thin ribs, Bell-shaped thorax,... |
OMIM:166210 |
Mucopolysaccharidosis Type 4 |
|
Joint dislocation, Bowing of the long bones, Coxa valga, Short neck, Hyperlordosis, Kyphosis, Sho... |
ORPHA:582 |
Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:97330 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Accessory spleen, Atelectasis, Recurrent pneumonia, Hypoplasia of the thymus, Pulmonary hypoplasi... |
OMIM:613177 |
Activated Pi3K-Delta Syndrome |
|
Pneumonia, Splenomegaly, Bronchiectasis, Arthritis, B lymphocytopenia, Recurrent otitis media, Re... |
ORPHA:397596 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Respiratory distress, Crackles, Dyspnea, Pneumothorax, Chronic pulmonary obstruction, Bronchiecta... |
ORPHA:411703 |
Grant Syndrome |
|
Joint dislocation, Bowing of the long bones, Abnormal rib morphology, Abnormal pelvic girdle bone... |
ORPHA:2097 |
Familial Peripheral Male-Limited Precocious Puberty |
|
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism |
ORPHA:3000 |
Thanatophoric Dysplasia, Type I |
|
Bowing of the long bones, Small abnormally formed scapulae, Thoracic hypoplasia, Short neck, Hypo... |
OMIM:187600 |
Congenital Generalized Lipodystrophy |
|
Overgrowth of external genitalia, Diabetes mellitus, Precocious puberty in females, Prominent sup... |
ORPHA:528 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Broad hallux phalanx, Toe syndactyly, Metatarsus valgus, Aplasia/Hypoplasia of toe, Short neck, P... |
ORPHA:3082 |
Fibrochondrogenesis |
|
Hypoplastic scapulae, Camptodactyly of finger, Short neck, Abnormal rib morphology, Abnormal form... |
ORPHA:2021 |
Pallister-Hall Syndrome |
|
Thyroid dysgenesis, Decreased circulating cortisol level, Posteriorly rotated ears, Decreased res... |
OMIM:146510 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Recurrent sinopulmonary infections, Atrophic gastritis, Autoimmune hemolytic anemia, Recurrent sk... |
OMIM:616576 |
Dystonia 28 |
|
Short stature, Precocious puberty, Feeding difficulties, Dysphagia, Hypothyroidism |
ORPHA:589618 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypoplasia of the vagina, Dysmenorrhea, Ambiguous genitalia, male, Decreased serum estradiol, Dec... |
ORPHA:90796 |
Achondrogenesis, Type Ii |
|
Barrel-shaped chest, Absent vertebral body mineralization, Broad long bones, Short tubular bones ... |
OMIM:200610 |
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome |
|
Premature pubarche, Feeding difficulties in infancy, Cryptorchidism, Gastroesophageal reflux, Gas... |
ORPHA:457205 |
Ciliary Dyskinesia, Primary, 37 |
|
Female infertility, Rhinorrhea, Goiter, Wheezing, Bronchiectasis, Chronic rhinitis, Hypothyroidis... |
OMIM:617577 |
Esophageal Atresia |
|
Subglottic stenosis, Respiratory distress, Bronchitis, Maternal diabetes, Feeding difficulties in... |
ORPHA:1199 |
Smith-Magenis Syndrome |
|
Short stature, Precocious puberty, Feeding difficulties in infancy, Synophrys, Abnormal form of t... |
ORPHA:819 |
Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Bronchial breath sound, Cyanosis, Crackles, Ground-glass opacification, Ano... |
ORPHA:1302 |
Mucolipidosis Iii Gamma |
|
Short neck, Flat capital femoral epiphysis, Hyperlordosis, Kyphosis, Pectus carinatum, Genu valgu... |
OMIM:252605 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased proportion of CD4-positive T cells, Recurrent respiratory infections, Autoimmune thromb... |
OMIM:300853 |
Mucopolysaccharidosis, Type X |
|
Irregular acetabular roof, Spatulate ribs, Broad clavicles, Hyperlordosis, Genu valgum, Hip dyspl... |
OMIM:619698 |
Immunodeficiency 62 |
|
Autoimmune thrombocytopenia, Recurrent upper respiratory tract infections, Bronchiectasis, Increa... |
OMIM:618459 |
Hypersulfaturia |
|
Costochondral pain |
OMIM:620372 |
Seizures, Cortical Blindness, And Microcephaly Syndrome |
|
Bronchiectasis |
OMIM:616632 |
Zygomycosis |
|
Fasciitis, Sinusitis, Acute infectious pneumonia, Air crescent sign, Colitis, Cough, Neutropenia,... |
ORPHA:73263 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Short neck, Hemivertebrae, Short palm, Thoracic hemivertebrae, Duplication of the distal phalanx ... |
OMIM:268310 |
High Altitude Pulmonary Edema |
|
Nausea and vomiting, Orthopnea, Cyanosis, Crackles, Anorexia, Dyspnea, Tachypnea, Hypoxemia, Coug... |
ORPHA:330012 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Fused labia majora, Decreased circulating cortisol level, Ambiguous genitalia, female, Abnormal o... |
ORPHA:90794 |
Bruck Syndrome 1 |
|
Hip contracture, Protrusio acetabuli, Ankle flexion contracture, Kyphosis, Elbow flexion contract... |
OMIM:259450 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Arachnodactyly, Missing ribs, Abnormal rib morphology, Hemivertebrae, Abnormal form of the verteb... |
ORPHA:2759 |
Mucopolysaccharidosis, Type Iva |
|
Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening, Pectus carinatum, Flar... |
OMIM:253000 |
Farber Disease |
|
Respiratory distress, Nodular pattern on pulmonary HRCT, Atelectasis, Thrombocytopenia, Recurrent... |
ORPHA:333 |
Melnick-Needles Syndrome |
|
Bowing of the long bones, Delayed cranial suture closure, Coxa valga, Short thorax, Abnormal rib ... |
ORPHA:2484 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,... |
ORPHA:93314 |
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
|
Short stature, Hypergonadotropic hypogonadism, Insulin-resistant diabetes mellitus, Secondary ame... |
OMIM:268020 |
Achondrogenesis Type 1B |
|
Short neck, Short thorax, Abnormal rib morphology, Short foot, Narrow chest |
ORPHA:93298 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Lumbar hyperlordosis, Short neck, Delayed epiphyseal ossification, Flared metaphysis, Vertebral c... |
OMIM:602557 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Bilateral ptosis, Feeding... |
ORPHA:254875 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Cyanosis, Type II pneumocyte hypertrophy, Desquamative interstitial pneumon... |
OMIM:263000 |
Relapsing Polychondritis |
|
Episcleritis, Pericarditis, Chondritis of pinna, Keratitis, Atelectasis, Dyspnea, Myocarditis, He... |
ORPHA:728 |
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Telecanthus, Precocious puberty, Cryptorchidism, Feeding difficulties, Upslanted palpebral fissur... |
OMIM:620073 |
Pleural Mesothelioma |
|
Respiratory distress, Abnormal pleura morphology, Dyspnea, Abnormal lung morphology, Abnormal res... |
ORPHA:50251 |
Peripheral Primitive Neuroectodermal Tumor |
|
Neoplasm of the pancreas, Nausea and vomiting, Metrorrhagia, Anorexia, Precocious puberty, Abdomi... |
ORPHA:370348 |
3M Syndrome |
|
Hypoplasia of the ulna, Scapular winging, Congenital hip dislocation, Rocker bottom foot, Short n... |
ORPHA:2616 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Ground-glass opacification, Dys... |
OMIM:265120 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Sprengel anomaly, Abnormality of the vertebral column, Abnormal rib morphology |
OMIM:601076 |
Phaver Syndrome |
|
Broad hallux phalanx, Camptodactyly of finger, Short thumb, Abnormal rib morphology, Abnormal for... |
ORPHA:2876 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Recurrent respiratory infections, Splenomegaly, Leukocytosis, Intraalveolar phospholipid accumula... |
OMIM:618042 |
Carpenter Syndrome 1 |
|
Epicanthus, Telecanthus, Abnormal pinna morphology, External genital hypoplasia, Sagittal cranios... |
OMIM:201000 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Sclerotic vertebral body, Abnormal pelvic girdle bone morphology, Metacarpal diaphyseal endosteal... |
OMIM:144750 |
Adult Acute Respiratory Distress Syndrome |
|
Pneumonia, Dyspnea, Pulmonary infiltrates, Hypoxemia, Respiratory failure, Abnormal blood gas lev... |
ORPHA:70578 |
Ciliary Dyskinesia With Transposition Of Ciliary Microtubules |
|
Recurrent sinopulmonary infections, Ciliary dyskinesia, Abnormal respiratory motile cilium morpho... |
OMIM:215520 |
Cartilage-Hair Hypoplasia |
|
Low-set, posteriorly rotated ears, Epicanthus, Abnormally ossified vertebrae, Biconvex vertebral ... |
ORPHA:175 |
Avian Influenza |
|
Respiratory distress, Pneumonia, Productive cough, Ground-glass opacification, Nonproductive coug... |
ORPHA:454836 |
X-Linked Centronuclear Myopathy |
|
Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve... |
ORPHA:596 |
Ovarian Fibrothecoma |
|
Ovarian fibroma, Metrorrhagia, Abdominal pain, Abdominal distention, Peritonitis, Abnormal endome... |
ORPHA:314478 |
Klippel-Feil Syndrome 3, Autosomal Dominant |
|
Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion |
OMIM:613702 |
Acrocapitofemoral Dysplasia |
|
Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Short palm, Hypoplast... |
OMIM:607778 |
Whim Syndrome 1 |
|
Recurrent upper respiratory tract infections, Bronchiectasis, Neutropenia |
OMIM:193670 |
Immunodeficiency 60 And Autoimmunity |
|
Recurrent sinopulmonary infections, Pancytopenia, Splenomegaly, Bronchiectasis, Ulcerative coliti... |
OMIM:618394 |
Immunodeficiency 40 |
|
Respiratory tract infection, Recurrent pneumonia, Eosinophilic granuloma, Pulmonary infiltrates, ... |
OMIM:616433 |
Lujo Hemorrhagic Fever |
|
Respiratory distress, Maculopapular exanthema, Skin rash, Crackles, Atelectasis, Fulminant hepati... |
ORPHA:319213 |
Nephronophthisis-Like Nephropathy 2 |
|
Recurrent respiratory infections, Pulmonary infiltrates, Bronchiectasis, Cough |
OMIM:619468 |
Cardiocranial Syndrome, Pfeiffer Type |
|
Low-set, posteriorly rotated ears, Contracture of the proximal interphalangeal joint of the 2nd f... |
ORPHA:2872 |
Ciliary Dyskinesia, Primary, 6 |
|
Recurrent respiratory infections, Sinusitis, Absent/shortened outer dynein arms, Abnormal ciliary... |
OMIM:610852 |
Microphthalmia, Syndromic 3 |
|
Vertebral fusion, Missing ribs, Rib fusion, Hemivertebrae, Supernumerary ribs, Butterfly vertebra... |
OMIM:206900 |
Central Precocious Puberty In Male |
|
Abnormal response to gonadotropin-releasing hormone stimulation test, Pituitary microadenoma, Abn... |
ORPHA:649929 |
Hydrolethalus Syndrome 1 |
|
Hypospadias, Abnormal pinna morphology, Bifid uterus, Abnormal lung lobation, Stillbirth, Adrenal... |
OMIM:236680 |
10Q22.3Q23.3 Microduplication Syndrome |
|
Abnormal clavicle morphology, Abnormal rib morphology |
ORPHA:276422 |
Lymphangiectasia, Intestinal |
|
Stillbirth, Prominent floating ribs |
OMIM:152800 |
Immunodeficiency 57 With Autoinflammation |
|
Recurrent respiratory infections, Gastritis, Skin rash, Perianal abscess, Bronchiectasis, T lymph... |
OMIM:618108 |
Precocious Puberty, Male-Limited |
|
Decreased testicular size, Precocious puberty in males |
OMIM:176410 |
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Wormian bones, Anterior rib cupping, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid proce... |
OMIM:300232 |
Femoral-Facial Syndrome |
|
Short third metatarsal, Short humerus, Short fourth metatarsal, Toe syndactyly, Short fifth metat... |
OMIM:134780 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Herpes simplex encephalitis, Bronchiectasis, Hepatosplenomegaly, Increased proportion of memory T... |
OMIM:618982 |
Ciliary Dyskinesia, Primary, 43 |
|
Neonatal respiratory distress, Productive cough, Recurrent upper respiratory tract infections, Br... |
OMIM:618699 |
Slc35A2-Cdg |
|
Short stature, Camptodactyly of finger, Craniosynostosis, Precocious puberty, Sensorineural heari... |
ORPHA:356961 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Autoimmune hemolytic anemia, Osteomyelitis, Autoimmune thrombocytopenia, Recurrent upper respirat... |
OMIM:608184 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Splenomegaly, Recurrent upper respiratory tract infections, Abnormal pulmonary interstitial morph... |
OMIM:613101 |
Congenital Factor Vii Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Ovarian cyst, Menorrhagia, Bruising susceptibility, Joint... |
ORPHA:327 |
Cole-Carpenter Syndrome |
|
Crumpled long bones, Bowing of the long bones, Kyphosis, Abnormal rib morphology, Abnormal form o... |
ORPHA:2050 |
Pulmonary Alveolar Microlithiasis |
|
Bronchitis, Nonproductive cough, Tachypnea, Gonadal calcification, Oxygen desaturation on exertio... |
ORPHA:60025 |
Meier-Gorlin Syndrome 6 |
|
Tracheobronchomalacia, Recurrent respiratory infections, Emphysema |
OMIM:616835 |
Pparg-Related Familial Partial Lipodystrophy |
|
Diabetes mellitus, Dysmenorrhea, Maternal diabetes, Insulin-resistant diabetes mellitus, Secondar... |
ORPHA:79083 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Recurrent sinopulmonary infections, Recurrent skin infections, Pneumonia,... |
ORPHA:486 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Beaking of vertebral bodies, Hyperextensibility of the finger joints, Vertebral fusion, Sacral di... |
OMIM:213980 |
Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Emphysema |
ORPHA:357074 |
Diarrhea 12, With Microvillus Atrophy |
|
Respiratory tract infection, Bronchiectasis |
OMIM:619445 |
Precocious Puberty, Central, 2 |
|
Premature thelarche, Premature pubarche |
OMIM:615346 |
Optic Pathway Glioma |
|
Precocious puberty, Growth delay, Vomiting, Nausea |
ORPHA:2086 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Recurrent upper respiratory tract infections, B lymphocytopenia, Pneumonia, Chronic bronchitis |
OMIM:614069 |
Cog1-Cdg |
|
Irregularity of vertebral bodies, Kyphoscoliosis, Coxa valga, Short neck, Rib fusion, Posterior r... |
ORPHA:263508 |
Acrodysplasia Scoliosis |
|
Vertebral segmentation defect, Spina bifida occulta, Scoliosis, Brachydactyly |
ORPHA:2956 |
Preeclampsia |
|
Helicobacter pylori infection, Abdominal pain, Polycystic ovaries, Type I diabetes mellitus, Intr... |
ORPHA:275555 |
Bangstad Syndrome |
|
Short stature, Abnormality of the parathyroid gland, Hyperinsulinemia, Polycystic ovaries, Increa... |
ORPHA:1227 |
Cowden Syndrome 6 |
|
Hyperthyroidism, Goiter, Kyphosis, Thyroiditis, Hydrocele testis, Ovarian cyst, Thyroid adenoma, ... |
OMIM:615109 |
Cowden Syndrome 5 |
|
Hyperthyroidism, Goiter, Kyphosis, Thyroiditis, Hydrocele testis, Ovarian cyst, Thyroid adenoma, ... |
OMIM:615108 |
Dentici-Novelli Neurodevelopmental Syndrome |
|
Precocious puberty, Macrotia, Upslanted palpebral fissure, Hearing impairment |
OMIM:619877 |
Atelosteogenesis Type I |
|
Joint dislocation, Laryngeal stenosis, Telecanthus, Rhizomelia, Laryngotracheal stenosis, Coronal... |
ORPHA:1190 |
Melioidosis |
|
Foot osteomyelitis, Brain abscess, Lung abscess, Liver abscess, Pneumonia, Respiratory tract infe... |
ORPHA:31202 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Narrow joint spaces of the elbow, Hypospadias, Decreased response to growth hormone stimulation t... |
ORPHA:96182 |
Lymphoid Interstitial Pneumonia |
|
Multiple pulmonary cysts, Skin rash, Eczema, Crackles, Ground-glass opacification, Respiratory tr... |
ORPHA:79128 |
Panbronchiolitis, Diffuse |
|
Crackles, Rhonchi, Wheezing, Bronchiectasis, Hypoxemia, Cough |
OMIM:604809 |
Keutel Syndrome |
|
Sinusitis, Recurrent bronchitis, Pulmonary artery hypoplasia, Recurrent otitis media, Emphysema, ... |
OMIM:245150 |
Estrogen Resistance |
|
Increased circulating osteocalcin level, Hyperinsulinemia, Increased serum estradiol, Primary ame... |
OMIM:615363 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Pneumonia, Eosinophilia, Recurrent pneumonia, Hepatitis, Erythroderma, Hepatosplenomegaly, Otitis... |
ORPHA:169160 |
Aicardi Syndrome |
|
Block vertebrae, Missing ribs, Rib fusion, Small hand, Hip dysplasia, Supernumerary ribs, Bifid r... |
ORPHA:50 |
Immunodeficiency 109 With Lymphoproliferation |
|
Pancytopenia, Splenomegaly, Bronchiectasis, Recurrent sinusitis, Absent circulating B cells, Recu... |
OMIM:620282 |
Familial Glucocorticoid Deficiency |
|
Decreased circulating dehydroepiandrosterone concentration, Decreased circulating cortisol level,... |
ORPHA:361 |
Chst3-Related Skeletal Dysplasia |
|
Barrel-shaped chest, Short metacarpal, Enlarged joints, Kyphoscoliosis, Abnormality of the elbow,... |
ORPHA:263463 |
Osteogenesis Imperfecta, Type Xxi |
|
Barrel-shaped chest, Coxa valga, Bowing of the legs, Pectus excavatum, Coxa vara, Bell-shaped tho... |
OMIM:619131 |
Achondrogenesis, Type Ia |
|
Abnormal femoral metaphysis morphology, Barrel-shaped chest, Hypoplastic scapulae, Hypoplastic sa... |
OMIM:200600 |
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome |
|
Precocious puberty, Scoliosis, Hearing impairment |
ORPHA:457260 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Chronic oral candidiasis, Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia, Neu... |
OMIM:150550 |
Choanal Atresia |
|
Subglottic stenosis, Recurrent respiratory infections, Respiratory distress, Cyanosis, Craniosyno... |
ORPHA:137914 |
Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Posteriorly rotated ears, Dyspnea, Respiratory failure, Low-set ears, Intra... |
ORPHA:1832 |
Congenital Pseudoarthrosis Of The Clavicle |
|
Congenital pseudoarthrosis of the clavicle, Osteoarthritis, Cervical ribs |
ORPHA:66630 |
Rudiger Syndrome |
|
Ovarian cyst, Micropenis, Bicornuate uterus, Death in infancy |
OMIM:268650 |
9P13 Microdeletion Syndrome |
|
Epicanthus, Short stature, External genital hypoplasia, Highly arched eyebrow, Precocious puberty... |
ORPHA:324313 |
Short Stature And Facioauriculothoracic Malformations |
|
Abnormal odontoid process morphology, Short neck, Pectus excavatum, Pectus carinatum, Cervical ribs |
OMIM:609654 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Hypoventilation, Myositis, Atelectasis, Respiratory insufficiency, Pulmonary arterial hypertensio... |
ORPHA:258 |
Osteogenesis Imperfecta, Type Xvi |
|
Angulated humerus, Multiple rib fractures, Bowing of the long bones, Beaded ribs, Short long bone... |
OMIM:616229 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Abnormal rib morphology, Abnormal epiphysis morphology, Brachydactyly |
ORPHA:2643 |
Luscan-Lumish Syndrome |
|
Short stature, Irregular menstruation, Advanced ossification of carpal bones, Polycystic ovaries,... |
OMIM:616831 |
Autosomal Recessive Cutis Laxa Type 1 |
|
Pneumothorax, Recurrent pneumonia, Respiratory insufficiency, Pyelonephritis, Emphysema, Peripher... |
ORPHA:90349 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Short palm, Metaphyseal chondrodysplasia, Abnormality of the calcaneus, Thin ribs, Metaphyseal cu... |
ORPHA:163966 |
Immunodeficiency 102 |
|
Recurrent skin infections, Autoimmune thrombocytopenia, Recurrent upper respiratory tract infecti... |
OMIM:301082 |
Sarcoidosis |
|
Abnormal nasal mucosa morphology, Abnormal lung morphology, Increased T cell count, Uveitis, Tubu... |
ORPHA:797 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Emphysema, Abnormality of the pulmonary artery |
ORPHA:363618 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Respiratory distress, Multiple joint dislocation, Repeated pneumothoraces, Large joint dislocatio... |
ORPHA:536467 |
Cooper-Jabs Syndrome |
|
Camptodactyly of finger, Proximal placement of thumb, Missing ribs, Abnormal rib morphology, Abno... |
ORPHA:1488 |
Cat-Eye Syndrome |
|
Hip dysplasia, Abnormal rib morphology |
ORPHA:195 |
Achondrogenesis Type 1A |
|
Multiple rib fractures, Short neck, Short thorax, Short foot, Narrow chest, Short palm |
ORPHA:93299 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Atrophic gastritis, Psoriasiform dermatitis, Autoimmune hemolytic anemia, Pneumonia, Eczema, Pure... |
ORPHA:436159 |
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Bifid sternum, Supraumbilical raphe |
OMIM:140850 |
Cowden Syndrome 1 |
|
Hyperthyroidism, Hearing impairment, Kyphosis, Thyroiditis, Hydrocele testis, Ovarian cyst, Ovari... |
OMIM:158350 |
Hepatic Adenomas, Familial |
|
Maturity-onset diabetes of the young, Polycystic ovaries |
OMIM:142330 |
Autosomal Recessive Robinow Syndrome |
|
Short neck, Pectus carinatum, Vertebral segmentation defect, Clinodactyly of the 5th finger, Syno... |
ORPHA:1507 |
Congenital Pulmonary Lymphangiectasia |
|
Respiratory distress, Cyanosis, Chronic pulmonary obstruction, Growth delay, Gastroesophageal ref... |
ORPHA:2414 |
Proteus-Like Syndrome |
|
Thymus hyperplasia, Genu recurvatum, Abnormality of the parathyroid gland, Polycystic ovaries, Li... |
ORPHA:2969 |
Adrenal Hypoplasia, Congenital |
|
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypoplasia, Precocio... |
OMIM:300200 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Recurrent skin infections, Asthma, Recurrent upper respiratory tract infections, Recurrent pneumo... |
OMIM:619752 |
Lethal Kniest-Like Dysplasia |
|
Abnormal ischium morphology, Broad long bones, Anterior rib cupping, Short neck, Hypoplastic ilia... |
ORPHA:2347 |
Global Developmental Delay With Speech And Behavioral Abnormalities |
|
Supernumerary nipple, Precocious puberty, Cryptorchidism, Downslanted palpebral fissures, Hearing... |
OMIM:619243 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Joint dislocation, Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing,... |
OMIM:618019 |
Osteogenesis Imperfecta, Type Xviii |
|
Bowing of the long bones, Thin ribs, Femoral bowing, Biconcave vertebral bodies, Wormian bones, V... |
OMIM:617952 |
Akt2-Related Familial Partial Lipodystrophy |
|
Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes mellitus, Polycys... |
ORPHA:79085 |
Short-Rib Thoracic Dysplasia 12 |
|
Epicanthus, Posteriorly rotated ears, Abnormal pinna morphology, Atelectasis, Respiratory insuffi... |
OMIM:269860 |
Emphysema, Congenital Lobar |
|
Respiratory distress, Bronchial cartilage hypoplasia |
OMIM:130710 |
Mucolipidosis Iii Alpha/Beta |
|
Soft tissue swelling of interphalangeal joints, Craniosynostosis, Irregular carpal bones, Split h... |
OMIM:252600 |
Pituitary Gigantism |
|
Elevated circulating growth hormone concentration, Amenorrhea, Increased circulating insulin-like... |
ORPHA:99725 |
Gaucher Disease Type 2 |
|
Respiratory distress, Recurrent respiratory infections, Cough, Dysphagia, Abnormal pattern of res... |
ORPHA:77260 |
22Q11.2 Deletion Syndrome |
|
Abnormal eyelid morphology, Feeding difficulties in infancy, Abnormal lung lobation, Hypoplasia o... |
ORPHA:567 |
Kleefstra Syndrome Due To A Point Mutation |
|
Short stature, Uplifted earlobe, Precocious puberty, Gastroesophageal reflux, Abnormal shape of t... |
ORPHA:261652 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3 |
|
Pneumonia |
OMIM:608033 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Diabetes mellitus, Hyperinsulinemia, Polycystic ovaries |
ORPHA:79084 |
Immunodeficiency 77 |
|
Chronic pulmonary obstruction, Bronchiectasis, Cutaneous abscess |
OMIM:619223 |
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy |
|
Recurrent aspiration pneumonia |
OMIM:619971 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Joint dislocation, Decreased response to growth hormone stimulation test, Nasogastric tube feedin... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Joint dislocation, Decreased response to growth hormone stimulation test, Nasogastric tube feedin... |
ORPHA:363958 |
Stuve-Wiedemann Syndrome 2 |
|
Respiratory distress, Death in adolescence, Stillbirth, Scoliosis, Dysphagia, Neonatal death, Pul... |
OMIM:619751 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Precocious puberty, Scoliosis, Hearing impairment |
OMIM:300958 |
Dysosteosclerosis |
|
Clavicular sclerosis, Sclerotic scapulae, Increased intervertebral space, Delayed closure of the ... |
OMIM:224300 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... |
ORPHA:1772 |
46,Xx Gonadal Dysgenesis |
|
Streak ovary, Premature ovarian insufficiency, Short stature, Hearing impairment, Increased circu... |
ORPHA:243 |
Aicardi Syndrome |
|
Block vertebrae, Proximal placement of thumb, Missing ribs, Rib fusion, Hemivertebrae, Supernumer... |
OMIM:304050 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Sacral dimple, Tapered toe, Tapered finger, Rib fusion, Clinodactyly of the 5th finger |
ORPHA:544488 |
De Barsy Syndrome |
|
Recurrent sinopulmonary infections, Emphysema |
ORPHA:2962 |
Lipe-Related Familial Partial Lipodystrophy |
|
Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes mellitus, Polycys... |
ORPHA:435660 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive |
|
Respiratory distress, Lymphocytic interstitial pneumonia |
OMIM:245590 |
Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome |
|
Decreased proportion of CD4-positive T cells, Bronchiectasis |
ORPHA:477814 |
Acro-Renal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Abnormal clavicle morphology, Sh... |
ORPHA:958 |
Digeorge Syndrome |
|
Parathyroid hypoplasia, Abnormal thymus morphology, Hypoplasia of the thymus, Gastroesophageal re... |
OMIM:188400 |
Bullous Dystrophy, Hereditary Macular Type |
|
Severe short stature, Acrocyanosis, Death in childhood |
OMIM:302000 |
Microduplication Xp11.22P11.23 Syndrome |
|
Precocious puberty |
ORPHA:217377 |
Osteogenesis Imperfecta, Type Iii |
|
Protrusio acetabuli, Kyphosis, Thin ribs, Tibial bowing, Slender long bone, Scoliosis, Wormian bo... |
OMIM:259420 |
Cidec-Related Familial Partial Lipodystrophy |
|
Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes mellitus, Polycys... |
ORPHA:435651 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Gastroesophageal reflux, Thickened helices, Prematurely aged appearance, Short stature, Hyperlord... |
OMIM:619950 |
Malignant Migrating Focal Seizures Of Infancy |
|
Precocious puberty, Scoliosis |
ORPHA:293181 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Hip contracture, Interphalangeal joint contracture of finger, Kyphoscoliosis, Ankle flexion contr... |
ORPHA:1145 |
Congenital Disorder Of Glycosylation, Type Iy |
|
Joint dislocation, Respiratory distress, Hypospadias, Feeding difficulties, Scoliosis, Macrotia |
OMIM:300934 |
Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Splenomegaly, Recurrent upper respiratory tract infections, Restrictive ventilatory defect, Inter... |
OMIM:620296 |
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Recurrent respiratory infections, Eczema, Eosinophilia, Keratitis, Bronchiectasis, Recurrent otit... |
OMIM:618523 |
Smith-Lemli-Opitz Syndrome |
|
Bifid scrotum, Small scrotum, Gastrointestinal dysmotility, Abnormal lung lobation, Renal cyst, V... |
OMIM:270400 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Respiratory distress, Postnatal growth retardation, Feeding difficulties, Pulmonary hypoplasia, I... |
OMIM:616733 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Uveitis, Inflammation of the large intestine, Colitis, Conjunctivitis, Autoim... |
OMIM:614700 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Sinusitis, Pneumonia, Bronchiectasis, T lymphocytopenia, Chronic bronchitis, Reduced natural kill... |
OMIM:242860 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Proximal placement of thumb, Abnormal thumb morphology, Short thumb, Preaxial hand polydactyly, A... |
ORPHA:1120 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
Three M Syndrome 2 |
|
Scapular winging, Lumbar hyperlordosis, Short neck, Hyperlordosis, Short thorax, Thin ribs, Pectu... |
OMIM:612921 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Short stature, Dysmenorrhea, Postnatal growth retardation, Diarrhea, Irregular menstruation, Poly... |
ORPHA:79240 |
Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Fe... |
OMIM:605809 |
Angelman Syndrome |
|
Precocious puberty in females, Gastrostomy tube feeding in infancy, Dysphagia, Feeding difficulti... |
ORPHA:72 |
Cenani-Lenz Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Elbow dislocation, Short thumb, Hypopl... |
ORPHA:3258 |
Ellis Van Creveld Syndrome |
|
Aplasia/Hypoplasia of the lungs, Emphysema, Acute leukemia |
ORPHA:289 |
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction |
|
Preaxial hand polydactyly, Sprengel anomaly, Cervical ribs, Thoracolumbar scoliosis |
OMIM:601389 |
Geleophysic Dysplasia 1 |
|
Short stature, Thickened helices, Camptodactyly of finger, Upslanted palpebral fissure, Tracheal ... |
OMIM:231050 |
Short Syndrome |
|
Telecanthus, Prominent superficial veins, Sensorineural hearing impairment, Insulin-resistant dia... |
OMIM:269880 |
Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Diabetes mellitus, Polycystic ovaries |
OMIM:608709 |
Congenital Myasthenic Syndrome |
|
Recurrent respiratory infections, Congenital hip dislocation, Sudden episodic apnea, Cyanosis, Ky... |
ORPHA:590 |
Holzgreve Syndrome |
|
Abnormally ossified vertebrae, Abnormal morphology of ulna, Abnormal rib morphology, Hand polydac... |
ORPHA:2167 |
Presynaptic Congenital Myasthenic Syndromes |
|
Recurrent respiratory infections, Congenital hip dislocation, Sudden episodic apnea, Cyanosis, Ky... |
ORPHA:98914 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Short stature, Dysmenorrhea, Diarrhea, Irregular menstruation, Polycystic ovaries, Growth delay, ... |
ORPHA:264580 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Autoimmune hemolytic anemia, Eczema, Autoimmune thrombocytopenia, Desquamative interstitial pneum... |
OMIM:615952 |
Intellectual Developmental Disorder, Autosomal Recessive 76 |
|
Chronic constipation, Precocious puberty in females, Feeding difficulties |
OMIM:619931 |
Congenital Myopathy 10A, Severe Variant |
|
Respiratory distress, Camptodactyly of finger, Respiratory insufficiency, Restrictive ventilatory... |
OMIM:614399 |
Double Outlet Right Ventricle |
|
Hypoparathyroidism, Cyanosis, Short stature, Abnormality of cartilage of external ear, Tachypnea,... |
ORPHA:3426 |
Brain-Lung-Thyroid Syndrome |
|
Thyroid dysgenesis, Recurrent respiratory infections, Hypoparathyroidism, Thyroid hemiagenesis, H... |
ORPHA:209905 |
Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... |
OMIM:254210 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Coxa valga, Short tubular bones of the hand, Vertebral arch anomaly, Abnormal diaphysis morpholog... |
ORPHA:85184 |
Neonatal Marfan Syndrome |
|
Neonatal respiratory distress, Emphysema, Hypoxemia |
ORPHA:284979 |
Cortisone Reductase Deficiency 2 |
|
Premature pubarche |
OMIM:614662 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Diabetes mellitus, Dysmenorrhea, Secondary amenorrhea, Polycystic ovaries |
ORPHA:2348 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Short stature, Precocious puberty, Insulin-resistant diabetes mellitus, Long penis, Hyperinsuline... |
OMIM:262190 |
Wolf-Hirschhorn Syndrome |
|
Rib segmentation abnormalities, Hypoplastic pubic ramus, Sacral dimple, Arachnodactyly, Short hal... |
ORPHA:280 |
Bent Bone Dysplasia Syndrome 2 |
|
Bowed humerus, Short neck, Ulnar bowing, Femoral bowing, Thin ribs, Coronal cleft vertebrae, Plat... |
OMIM:620076 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Respiratory distress, Central apnea, Lumbar hyperlordosis, Rhizomelia, Severe short stature, Bowe... |
OMIM:616482 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Arthropathy, Premature thelarche, Sclerotic cranial sutures, Abnormal form of the vertebral bodie... |
ORPHA:371428 |
Auriculocondylar Syndrome 2A |
|
Overfolding of the superior helices, Ptosis, Respiratory distress, Posteriorly rotated ears, Apne... |
OMIM:614669 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Pulmonary bulla, Recurrent intrapulmonary hemorrhage, Spontaneous pneumothorax, Repeated pneumoth... |
OMIM:130050 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short metacarpal, Iliac crest serration, Abnormal scapula morphology, Metaphyseal chondrodysplasi... |
ORPHA:93317 |
Mucopolysaccharidosis Type 6 |
|
Epiphyseal dysplasia, Ovoid vertebral bodies, Short neck, Kyphosis, Genu valgum, Broad ribs, Abno... |
ORPHA:583 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Thickened ribs, Diaphyseal sclerosis |
OMIM:122860 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ivory epiphyses, Short metacarpal, Bowing of the long bones, Metaphyseal spurs, Ovoid vertebral b... |
ORPHA:85167 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypoparathyroidism, Craniosynostosis, Precocious puberty, Nasogastric tube feeding in infancy, Ab... |
ORPHA:369837 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Skin rash, Pneumonia, Eosinophi... |
ORPHA:911 |
Yellow Nail Syndrome |
|
Recurrent respiratory infections, Sinusitis, Dyspnea, Bronchiectasis, Neoplasm of the lung, Rhini... |
ORPHA:662 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Decreased circulating cortisol level, Precocious puberty, Cryptorchidism, Abnormal circulating re... |
OMIM:614736 |
Immunodeficiency 65, Susceptibility To Viral Infections |
|
Stomatitis, Bronchiectasis |
OMIM:618648 |
Mucopolysaccharidosis, Type Iiia |
|
Thickened ribs, Ovoid thoracolumbar vertebrae, Scoliosis |
OMIM:252900 |
Odontochondrodysplasia 1 |
|
Respiratory distress, Recurrent respiratory infections, Biconvex vertebral bodies, Death in infan... |
OMIM:184260 |
Rabson-Mendenhall Syndrome |
|
Reduced subcutaneous adipose tissue, Enlarged ovaries, Short stature, Precocious puberty, Hypothy... |
ORPHA:769 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Anterior wedging of T12, Pectus carinatum, Long fibula, Short palm, Short phalanx of finger, Broa... |
OMIM:300106 |
Precocious Puberty, Central, 1 |
|
Short stature, Elevated circulating luteinizing hormone level, Isosexual precocious puberty, Elev... |
OMIM:176400 |
Meier-Gorlin Syndrome 1 |
|
Respiratory distress, Genu recurvatum, Feeding difficulties in infancy, Hemivertebrae, Gastroesop... |
OMIM:224690 |
Kyphomelic Dysplasia |
|
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Anterior rib cupping,... |
OMIM:211350 |
Immunodeficiency, Common Variable, 2 |
|
Splenomegaly, Recurrent pneumonia, Bronchiectasis, Conjunctivitis, Recurrent sinusitis, Recurrent... |
OMIM:240500 |
Maffucci Syndrome |
|
Neoplasm of the adrenal cortex, Short stature, Neoplasm of the parathyroid gland, Pituitary adeno... |
ORPHA:163634 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Recurrent sinopulmonary infections, Enterocolitis, Ulcerative colitis, Decreased proportion of cl... |
OMIM:614878 |
Mucopolysaccharidosis, Type Ivb |
|
Ulnar deviation of the wrist, Ovoid vertebral bodies, Coxa valga, Epiphyseal deformities of tubul... |
OMIM:253010 |
Osteoporosis-Pseudoglioma Syndrome |
|
Wormian bones, Short stature, Isosexual precocious puberty |
ORPHA:2788 |
Immunodeficiency 92 |
|
Osteomyelitis, Pneumonia, Cholangitis, Leukocytosis, Decreased proportion of class-switched memor... |
OMIM:619652 |
Phosphoserine Aminotransferase Deficiency |
|
Cyanotic episode, Death in infancy, Apnea, Feeding difficulties |
OMIM:610992 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Recurrent respiratory infections, Osteomyelitis, Recurrent skin infections, Eczema, Eosinophilia,... |
OMIM:618282 |
Kabuki Syndrome 1 |
|
Joint dislocation, Congenital hip dislocation, Premature thelarche, Feeding difficulties in infan... |
OMIM:147920 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Respiratory insufficiency due to muscle weakness, Respiratory failure, Recurrent aspiration pneum... |
ORPHA:2590 |
Immunodeficiency 110 With Lymphoproliferation |
|
Autoimmune hemolytic anemia, Recurrent skin infections, Recurrent upper respiratory tract infecti... |
OMIM:614868 |
Cleft Velum |
|
Recurrent otitis media, Aspiration pneumonia |
ORPHA:99772 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Lymphadenitis, Salmonella osteomyelitis, Pneumonia |
ORPHA:319552 |
Primary Effusion Lymphoma |
|
Dyspnea, Abdominal distention, Pleural effusion, Abdominal pain |
ORPHA:48686 |
Holt-Oram Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Short humerus, Thoracic scoliosis, Aplasia of the ulna, Absen... |
OMIM:142900 |
Multiple Pterygium Syndrome, X-Linked |
|
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Thin ribs, S... |
OMIM:312150 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Short stature, Epistaxis, Diarrhea, Irregular menstruation, Thyroiditis, Gout, Polycystic ovaries... |
ORPHA:79259 |
Laryngotracheal Angioma |
|
Respiratory distress, Cyanosis, Intercostal retractions, Apnea, Wheezing, Feeding difficulties, S... |
ORPHA:137935 |
Congenital Sucrase-Isomaltase Deficiency |
|
Abdominal distention, Abdominal colic, Vomiting, Diarrhea |
ORPHA:35122 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Respiratory distress, Feeding difficulties in infancy, Abdominal distention, Elevated circulating... |
ORPHA:226313 |
Lymphoid Interstitial Pneumonia |
|
Lymphocytic interstitial pneumonia |
OMIM:247610 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Pulmonary artery dilatation, Emphysema, Pulmonary artery aneurysm |
OMIM:614437 |
Acromesomelic Dysplasia 4 |
|
Thoracic scoliosis, Short metatarsal, Short phalanx of finger, Genu varum, Short metacarpal, Radi... |
OMIM:619636 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame... |
OMIM:610475 |
Familial Thyroid Dyshormonogenesis |
|
Positive perchlorate discharge test, Thyroid defect in oxidation and organification of iodide, Fe... |
ORPHA:95716 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Respiratory distress, Recurrent respiratory infections, Ptosis, Respiratory failure requiring ass... |
OMIM:211530 |
Kabuki Syndrome |
|
Hypoplasia of penis, Hemivertebrae, Abnormal form of the vertebral bodies, Protruding ear, Conduc... |
ORPHA:2322 |
Polycystic Ovary Syndrome 1 |
|
Enlarged polycystic ovaries, Oligomenorrhea, Amenorrhea |
OMIM:184700 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Recurrent sinopulmonary infections, Eczema, Eosinophilic infiltration of the esophagus, Eosinophi... |
OMIM:243700 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Bifid scrotum, Fused labia majora, Decreased circulating cortisol level, Small scrotum, Hemiverte... |
OMIM:201750 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Pancytopenia, Tachypnea, Abnormal pulmonary interstitial morphology, Respiratory insufficiency, R... |
OMIM:613658 |
Diaphanospondylodysostosis |
|
Delayed vertebral ossification, Respiratory distress, Epicanthus, Absent in utero ossification of... |
OMIM:608022 |
Congenital Fibrinogen Deficiency |
|
Cyanosis, Hemorrhagic ovarian cyst, Abdominal pain, Micropenis, Bruising susceptibility, Decrease... |
ORPHA:335 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Respiratory distress, Recurrent respiratory infections, Epicanthus, Telecanthus, Delayed cranial ... |
OMIM:619383 |
Immunodeficiency 43 |
|
Recurrent respiratory infections, Lung abscess, Bronchiectasis, B lymphocytopenia, Organizing pne... |
OMIM:241600 |
Developmental And Epileptic Encephalopathy 30 |
|
Respiratory distress, Death in infancy, Feeding difficulties |
OMIM:616341 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyperparathyroidism, Feeding difficulties in infancy, Protruding ear, Gastroesophageal reflux, Lo... |
ORPHA:534 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory distress, Ptosis, Orthopnea, Bowel incontinence, Hyperlordosis, Respiratory tract inf... |
ORPHA:365 |
Chand Syndrome |
|
Atelectasis |
ORPHA:1401 |
Cole-Carpenter Syndrome 2 |
|
Wide cranial sutures, Pectus excavatum, Kyphosis, Thin ribs, Platyspondyly, Lambdoidal craniosyno... |
OMIM:616294 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Low-set, posteriorly rotated ears, Epicanthus, Short stature, Polycystic ovaries, Gonadal dysgene... |
ORPHA:1770 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short neck, Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Narrow ch... |
OMIM:250220 |
Fowler Urethral Sphincter Dysfunction Syndrome |
|
Polycystic ovaries, Menorrhagia, Oligomenorrhea, Abnormality of the ovary, Amenorrhea |
ORPHA:2795 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Hyperlordosis, Abnormal rib morphology, Pectus carinatum, Abnormal hip bone morphology, Clinodact... |
ORPHA:3068 |
Sillence Syndrome |
|
Back pain, Large iliac wing, Abnormal vertebral morphology, Large tarsal bones, Flat acetabular r... |
ORPHA:3168 |
46,Xy Complete Gonadal Dysgenesis |
|
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries |
ORPHA:242 |
Congenital Tracheal Stenosis |
|
Respiratory distress, Cyanosis, Abnormal bronchus morphology, Neonatal asphyxia, Abnormal lung mo... |
ORPHA:141127 |
Mucopolysaccharidosis, Type Iiib |
|
Thickened ribs, Ovoid thoracolumbar vertebrae |
OMIM:252920 |
Fabry Disease |
|
Dyspnea, Chronic pulmonary obstruction, Respiratory insufficiency, Arthritis, Emphysema, Anemia |
ORPHA:324 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Respiratory distress, Short stature, Respiratory insufficiency due to muscle weakness, Poor suck,... |
OMIM:300580 |
Campomelia, Cumming Type |
|
Bowing of the long bones, Abnormally ossified vertebrae, Abnormal thorax morphology, Abnormal rib... |
ORPHA:1318 |
Estrogen Resistance Syndrome |
|
Enlarged polycystic ovaries, Increased circulating gonadotropin level, Absence of secondary sex c... |
ORPHA:785 |
Pallister-Hall Syndrome |
|
Small scrotum, Adrenal hypoplasia, Abnormal lung lobation, Gonadotropin deficiency, Hemivertebrae... |
ORPHA:672 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Chronic gastritis, Liver abscess, Cholangitis, Bronchitis, Cholecystitis, Psoriasiform dermatitis... |
ORPHA:183675 |
Orofaciodigital Syndrome Viii |
|
Recurrent aspiration pneumonia |
OMIM:300484 |
Tetrasomy 5P |
|
Respiratory distress, Recurrent respiratory infections, Epicanthus, Cyanosis, Posteriorly rotated... |
ORPHA:3309 |
Thrombocytopenia-Absent Radius Syndrome |
|
Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ... |
ORPHA:3320 |
Mowat-Wilson Syndrome |
|
Bifid scrotum, Uplifted earlobe, Gastrointestinal dysmotility, Vomiting, Conductive hearing impai... |
ORPHA:2152 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Syndactyly, Thoracic hypoplasia, Postaxial polydactyly, Hypoplastic ilia, Lateral clavicle hook, ... |
OMIM:617895 |
Autosomal Agammaglobulinemia |
|
Recurrent respiratory infections, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections,... |
ORPHA:33110 |
Multiple Pterygium Syndrome, Lethal Type |
|
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Thin ribs, S... |
OMIM:253290 |
Hypomyelination Neuropathy-Arthrogryposis Syndrome |
|
Respiratory distress |
ORPHA:2680 |
Axial Mesodermal Dysplasia Spectrum |
|
Abnormality of the knee, Short neck, Missing ribs, Abnormal rib morphology, Abnormal form of the ... |
ORPHA:1834 |
Severe X-Linked Mitochondrial Encephalomyopathy |
|
Respiratory distress, Feeding difficulties in infancy, Respiratory insufficiency |
ORPHA:238329 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Reduced subcutaneous adipose tissue, Diabetes mellitus, Dysmenorrhea, Decreased adiponectin level... |
ORPHA:280365 |
Trehalase Deficiency |
|
Abdominal distention, Diarrhea, Vomiting, Abdominal pain |
ORPHA:103909 |
Woolly Hair Nevus |
|
Precocious puberty, Enlarged vestibular aqueduct |
ORPHA:79414 |
Osteogenesis Imperfecta, Type Viii |
|
Barrel-shaped chest, Short metacarpal, Radial bowing, Femoral retroversion, Kyphosis, Tibial bowi... |
OMIM:610915 |
Fibrous Dysplasia Of Bone |
|
Hyperthyroidism, Precocious puberty in females, Diabetes mellitus, Testicular neoplasm, Elevated ... |
ORPHA:249 |
Tay-Sachs Disease |
|
Gastrostomy tube feeding in infancy, Precocious puberty, Ankle clonus, Aspiration pneumonia, Dysp... |
ORPHA:845 |
Opitz Gbbb Syndrome |
|
Bifid scrotum, Feeding difficulties in infancy, Vertebral segmentation defect, Recurrent aspirati... |
ORPHA:2745 |
Myhre Syndrome |
|
Abnormal penis morphology, Severe short stature, Hypospadias, External genital hypoplasia, Hearin... |
ORPHA:2588 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Recurrent bacterial skin infections, Abnormally low T cell receptor excision circle level, Decrea... |
ORPHA:276 |
Craniosynostosis, Herrmann-Opitz Type |
|
Finger syndactyly, Craniosynostosis, Split hand, Abnormal rib morphology, Brachydactyly |
ORPHA:2145 |
Mogs-Cdg |
|
Respiratory distress, Absent brainstem auditory responses, Thoracic scoliosis, Hypoventilation, A... |
ORPHA:79330 |
Chitayat Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Bronchomalacia, Short stature, Abnormal p... |
OMIM:617180 |
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Precocious puberty |
OMIM:619356 |
Cleidocranial Dysplasia |
|
Hypoplastic scapulae, Wormian bones, Down-sloping shoulders, Tapered finger, Abnormal thumb morph... |
ORPHA:1452 |
Hypodontia-Dysplasia Of Nails Syndrome |
|
Polycystic ovaries |
ORPHA:2228 |
Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Metaphyseal widening, Abnormal thorax morphology, Abnormal form of the vertebral bodies, Thin rib... |
ORPHA:73230 |
Prune Belly Syndrome |
|
Congenital hip dislocation, Pectus excavatum, Abnormal rib morphology, Vertebral segmentation def... |
ORPHA:2970 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Respiratory distress, Ptosis, Telecanthus, Prominent metopic ridge, Apnea, Hypoventilation, Feedi... |
ORPHA:314655 |
Rubinstein-Taybi Syndrome 1 |
|
Respiratory distress, Premature thelarche, Bilateral cryptorchidism, Feeding difficulties in infa... |
OMIM:180849 |
Laryngotracheoesophageal Cleft |
|
Recurrent respiratory infections, Neonatal respiratory distress, Cyanosis, Dyspnea, Stridor, Coug... |
ORPHA:2004 |
Generalized Glucocorticoid Resistance Syndrome |
|
Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ... |
ORPHA:786 |
Alexander Disease |
|
Nausea and vomiting, Diabetes mellitus, Bowel incontinence, Hyperlordosis, Precocious puberty, Ky... |
ORPHA:58 |
Pyknoachondrogenesis |
|
Hypoplastic ischia, Short iliac bones, Short thorax, Abnormal iliac wing morphology, Poorly ossif... |
ORPHA:3003 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Thoracic hypoplasia, Lateral cl... |
OMIM:613091 |
Cantú Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Ovoid vertebral bodies, Short hallux, Coxa valga, Short ... |
ORPHA:1517 |
Neuralgic Amyotrophy |
|
Acrocyanosis, Short stature, Respiratory insufficiency |
ORPHA:2901 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Thoracic kyphoscoliosis, Reduced vital capacity, Orthopnea, Cyanosis, Restrictive ventilatory def... |
ORPHA:98913 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Telecanthus, Abnormal pinna morphology, Jaundice, Renal cortical cysts, Vom... |
OMIM:231680 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Recurrent respiratory infections, Autoimmune hemolytic anemia, Lymphocytic interstitial pneumonia... |
OMIM:618495 |
Greenberg Dysplasia |
|
Beaded ribs, Tetraphocomelia, Hypoplastic vertebral bodies, Hypoplasia of the calcaneus, Narrow c... |
OMIM:215140 |
Mucopolysaccharidosis, Type Iiic |
|
Beaking of vertebral bodies, Thickened ribs, Ovoid thoracolumbar vertebrae, Kyphoscoliosis |
OMIM:252930 |
Volvulus Of Midgut |
|
Telecanthus, Abdominal distention, Neonatal intestinal obstruction, Constipation, Long palpebral ... |
OMIM:193250 |
Poland Syndrome |
|
Aplasia/Hypoplasia of the thumb, Short neck, Hemivertebrae, Pectus carinatum, Abnormal sternum mo... |
ORPHA:2911 |
Non-Functioning Pituitary Adenoma |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:91349 |
Frontometaphyseal Dysplasia 1 |
|
Limited elbow movement, Knee flexion contracture, Increased density of long bone diaphyses, Wrist... |
OMIM:305620 |
Pulmonary Capillary Hemangiomatosis |
|
Pulmonary edema, Cyanosis, Diffuse alveolar hemorrhage, Ground-glass opacification, Pulmonary cap... |
ORPHA:199241 |
Insulin-Resistance Syndrome Type B |
|
Enlarged ovaries, Pneumonia, Enlarged polycystic ovaries, Abnormal circulating leptin concentrati... |
ORPHA:2298 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Stenosis of the medullary cavity of the long bones, Thin clavicles, Small hand, Thin ribs, Short ... |
ORPHA:93324 |
Multiple Synostoses Syndrome 1 |
|
Hypoplastic spinal processes, Symphalangism affecting the phalanges of the hand, Cutaneous finger... |
OMIM:186500 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Bifid scrotum, Uplifted earlobe, Webbed penis, Micropenis, Abnormality of the pulmonary artery, M... |
ORPHA:261537 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Pneumoni... |
OMIM:600802 |
Aromatase Deficiency |
|
Ovarian cyst, Hypergonadotropic hypogonadism, Primary amenorrhea, Female pseudohermaphroditism |
OMIM:613546 |
Toxic Epidermal Necrolysis |
|
Respiratory distress, Recurrent respiratory infections, Acute hepatic failure, Entropion, Nausea ... |
ORPHA:537 |
Autosomal Dominant Cutis Laxa |
|
Bronchiectasis, Pyelonephritis, Bronchiolitis, Emphysema, Peripheral pulmonary artery stenosis |
ORPHA:90348 |
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome |
|
Acrocyanosis |
ORPHA:86918 |
Faundes-Banka Syndrome |
|
Epicanthus, Premature thelarche, Feeding difficulties in infancy, Cryptorchidism, Conductive hear... |
OMIM:619376 |
Familial Osteodysplasia, Anderson Type |
|
Aplastic clavicle, Missing ribs, Elbow dislocation, Kyphosis, Abnormal rib morphology, Bifid femu... |
ORPHA:2769 |
Omenn Syndrome |
|
Pneumonia, Eosinophilia, Splenomegaly, Leukocytosis, Thyroiditis, Erythroderma, Abnormal lymphocy... |
ORPHA:39041 |
Immunodeficiency 56 |
|
Recurrent respiratory infections, Cholangitis, Recurrent pneumonia, Bronchiectasis, Recurrent sin... |
OMIM:615207 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Distal symphalangism, Hypospadias, Precocious puberty, Postnatal growth retardation, Disproportio... |
OMIM:210720 |
Osteogenesis Imperfecta, Type X |
|
Multiple rib fractures, Bowing of the long bones, Short femur, Thoracic scoliosis, Tibial bowing,... |
OMIM:613848 |
Infantile Systemic Hyalinosis |
|
Severe short stature, Telangiectasia of the skin, Camptodactyly of finger, Chronic diarrhea, Poly... |
ORPHA:2176 |
Opsismodysplasia |
|
Short metacarpal, Anterior rib cupping, Short neck, Hypoplasia of the odontoid process, Squared i... |
OMIM:258480 |
Peutz-Jeghers Syndrome |
|
Gastrointestinal hemorrhage, Pancreatic adenocarcinoma, Intestinal obstruction, Nasal polyposis, ... |
ORPHA:2869 |
Craniometadiaphyseal Dysplasia |
|
Broad long bones, Coxa valga, Cubitus valgus, Flared metaphysis, Genu valgum, Scoliosis, Wormian ... |
OMIM:269300 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Restrictive ventilatory defect, Pneumonia |
OMIM:253700 |
8P Inverted Duplication/Deletion Syndrome |
|
Precocious puberty, Cryptorchidism, Synophrys, Hip dislocation, Aplasia/Hypoplasia of the gallbla... |
ORPHA:96092 |
Congenital Heart Block |
|
Cyanosis, Crackles, Feeding difficulties in infancy, Intrauterine growth retardation, Pleural eff... |
ORPHA:60041 |
Combined Oxidative Phosphorylation Deficiency 30 |
|
Respiratory distress, Death in infancy, Sensorineural hearing impairment, Feeding difficulties, G... |
OMIM:616974 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Respiratory distress, Epicanthus, Small scrotum, Hypospadias, Abnormal pinna morphology, Rhizomel... |
OMIM:607143 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Skin rash, Eosinophilia, Pustule, Dyspnea, Myocarditis, Hepatitis, Erythroderma, Thyroiditis, Pul... |
ORPHA:139402 |
Robinow Syndrome |
|
Fused thoracic vertebrae, Syndactyly, Kyphoscoliosis, Bifid distal phalanx of the thumb, Missing ... |
ORPHA:97360 |
Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Sinusitis, Pneumonia, Pure red cell aplasia, Autoimmune thrombocytop... |
OMIM:613179 |
Moebius Syndrome |
|
Respiratory distress, Epicanthus, Hypogonadotropic hypogonadism, Abnormal pinna morphology, Feedi... |
OMIM:157900 |
46,Xx Ovotesticular Difference Of Sex Development |
|
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... |
ORPHA:2138 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Hypoventilation, Apnea, Short stature, Breathing dysregulation, Precocious puberty, Cryptorchidis... |
ORPHA:438213 |
Hyperparathyroidism, Transient Neonatal |
|
Respiratory distress, Hyperparathyroidism, Wide cranial sutures, Feeding difficulties, Ovarian cy... |
OMIM:618188 |
Seizures, Benign Familial Infantile, 3 |
|
Cyanosis, Apnea |
OMIM:607745 |
Timothy Syndrome |
|
Pulmonary arterial hypertension, Pneumonia, Bronchitis |
OMIM:601005 |
Radio-Renal Syndrome |
|
Short neck, Hypoplasia of the radius, Abnormal rib morphology, Abnormality of the elbow, Abnormal... |
ORPHA:3015 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Bulging epiphyses, Enlargement of the ankles, Bowing of the legs, Enlargement of the costochondra... |
OMIM:600081 |
Venular Insufficiency, Systemic |
|
Cyanosis |
OMIM:192700 |
Sulfhemoglobinemia, Congenital |
|
Cyanosis |
OMIM:185460 |
Pituicytoma |
|
Decreased serum testosterone concentration, Decreased female libido, Hypogonadotropic hypogonadis... |
ORPHA:251623 |
Bronchial Neuroendocrine Tumor |
|
Pneumonia, Dyspnea, Nonproductive cough, Asthma, Wheezing, Abnormal pulmonary interstitial morpho... |
ORPHA:97287 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Central apnea, Cyanosis |
ORPHA:71277 |
Pediatric-Onset Graves Disease |
|
Nausea and vomiting, Craniosynostosis, Abnormal eyelid morphology, Puberty and gonadal disorders,... |
ORPHA:525731 |
Baller-Gerold Syndrome |
|
Limited elbow movement, Patellar hypoplasia, Spina bifida occulta, Abnormal vertebral morphology,... |
OMIM:218600 |
Methemoglobinemia, Beta Type |
|
Cyanosis |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Cyanosis |
OMIM:617973 |
Seizures, Benign Familial Infantile, 1 |
|
Cyanosis, Apnea |
OMIM:601764 |
Neurogenic Arthrogryposis Multiplex Congenita |
|
Respiratory distress, Hip contracture, Ankle flexion contracture, Respiratory insufficiency due t... |
ORPHA:1143 |
Carney Complex |
|
Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, Ovarian serous cystadenoma... |
ORPHA:1359 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Atrophic gastritis, Psoriasiform dermatitis, Autoimmune hemolytic anemia, Eczema, Autoimmune thro... |
OMIM:616100 |
Hereditary Bullous Dystrophy, Macular Type |
|
Short stature, Pneumonia, External genital hypoplasia, Cryptorchidism, Growth delay, Acrocyanosis... |
ORPHA:1867 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Multiple rib fractures, Short femur, Fractured radius, Decreased fibular diameter, Beaded ribs, S... |
OMIM:616897 |
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Thyroid dysgenesis, Recurrent respiratory infections, Severe short stature, Abnormal nasolacrimal... |
ORPHA:3047 |
Cardiospondylocarpofacial Syndrome |
|
Tarsal synostosis, Rib fusion, Cone-shaped epiphysis, Short foot, Pseudoepiphyses, Fused cervical... |
OMIM:157800 |
Bacterial Toxic-Shock Syndrome |
|
Respiratory distress, Fasciitis, Sinusitis, Myositis, Tachypnea, Increased circulating myelocyte ... |
ORPHA:36234 |
Tarp Syndrome |
|
Low-set, posteriorly rotated ears, Cyanosis, Apnea, Cryptorchidism, Prominent antihelix, Abnormal... |
ORPHA:2886 |
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Respiratory distress |
ORPHA:171703 |
Graft Versus Host Disease |
|
Fasciitis, Myositis, Maculopapular exanthema, Pneumonia, Inflammatory abnormality of the skin, Ga... |
ORPHA:39812 |
Prolactinoma |
|
Vomiting, Male hypogonadism, Hypogonadotropic hypogonadism, Decreased fertility in males, Delayed... |
ORPHA:2965 |
Mccune-Albright Syndrome |
|
Hyperparathyroidism, Hyperthyroidism, Elevated circulating growth hormone concentration, Precocio... |
OMIM:174800 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Abnormal rib morphology |
ORPHA:2772 |
Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Bifid scrotum, Uplifted earlobe, Webbed penis, Micropenis, Abnormality of the pulmonary artery, M... |
ORPHA:261552 |
Vertebral Hypersegmentation And Orofacial Anomalies |
|
Pectus excavatum, Scapular winging, Supernumerary ribs, Six lumbar vertebrae |
OMIM:619122 |
Tsh-Secreting Pituitary Adenoma |
|
Elevated circulating thyroid-stimulating hormone concentration, Vomiting, Male hypogonadism, Hype... |
ORPHA:91347 |
Hemochromatosis, Type 1 |
|
Arthropathy, Diabetes mellitus, Hypogonadotropic hypogonadism, Abdominal pain, Telangiectasia, Az... |
OMIM:235200 |
Achondrogenesis, Type Ib |
|
Abdominal distention, Respiratory insufficiency, Stillbirth, Absent or minimally ossified vertebr... |
OMIM:600972 |
Congenital Diaphragmatic Hernia |
|
Respiratory distress, Pulmonary hypoplasia, Hypoxemia |
ORPHA:2140 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ... |
OMIM:612447 |
Rhabdomyosarcoma, Embryonal, 2 |
|
Ovarian thecoma, Pleuropulmonary blastoma, Multinodular goiter, Thyroid nodule, Goiter |
OMIM:180295 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Aplasia of the thymus, Pneumonia, Eosinophilia, Splenomegaly, Recurrent upper respiratory tract i... |
OMIM:602450 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Precocious puberty, Feeding difficulties, Downslanted palpebral fissures, Intermittent hyperventi... |
ORPHA:163681 |
Wolf-Hirschhorn Syndrome |
|
Rib segmentation abnormalities, Vertebral fusion, Sacral dimple, Pseudoepiphyses of the metacarpa... |
OMIM:194190 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Sinusitis, Pneumonia, Enteroviral hepatitis, Prostatitis, Epididymitis, Pyoderma, Conjunctivitis,... |
OMIM:307200 |
Congenital Disorder Of Glycosylation, Type Ix |
|
Respiratory distress, Small scrotum, Cryptorchidism, Feeding difficulties, Death in childhood, In... |
OMIM:615597 |
Kenny-Caffey Syndrome, Type 1 |
|
Long clavicles, Delayed closure of the anterior fontanelle, Thin clavicles, Small hand, Thin ribs... |
OMIM:244460 |
Williams Syndrome |
|
Hypoplasia of penis, Abnormal form of the vertebral bodies, Protruding ear, Vertebral segmentatio... |
ORPHA:904 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Respiratory distress, Cyanosis |
ORPHA:91130 |
Isolated Polycystic Liver Disease |
|
Gastrointestinal hemorrhage, Abdominal pain, Feeding difficulties in infancy, Abdominal distentio... |
ORPHA:2924 |
Oculopharyngodistal Myopathy |
|
Respiratory insufficiency due to muscle weakness, Restrictive ventilatory defect, Recurrent aspir... |
ORPHA:98897 |
Alstrom Syndrome |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Diabetes i... |
OMIM:203800 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6 |
|
Recurrent acute respiratory tract infection, Paradoxical respiration, Respiratory distress, Plant... |
OMIM:620011 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Abnormally ossified vertebrae, Sparse eyelashes, Abnormal pinna morphology, Anomalous tracheal ca... |
ORPHA:35173 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Cyanosis, Hypogonadotropic hypogonadism, Short stature, Bilateral cryptorchidism, Sensorineural h... |
ORPHA:2326 |
Lig4 Syndrome |
|
Recurrent respiratory infections, Epicanthus, Cryptorchidism, Asthma, Telangiectasia, Upslanted p... |
OMIM:606593 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Cyanosis, Crazy paving pattern, Crackles, Dyspnea, Intraalveolar phospholipid accumulation, Hypox... |
ORPHA:747 |
Maternal Uniparental Disomy Of Chromosome 2 |
|
Neonatal respiratory distress, Premature ovarian insufficiency, Hypospadias, Decreased response t... |
ORPHA:96179 |
Marfan Syndrome |
|
Pulmonary artery dilatation, Emphysema, Arthralgia/arthritis, Spontaneous pneumothorax |
ORPHA:558 |
Omenn Syndrome |
|
Severe B lymphocytopenia, Eosinophilia, Pneumonia, Splenomegaly, Thrombocytopenia, Hypoplasia of ... |
OMIM:603554 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Short neck, Coxa vara, Tibial bowing, Pectus carinatum, Hypoplastic iliac wing, Abnormal vertebra... |
ORPHA:93315 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Apnea, Bronchiectasis, Respiratory insufficiency, Aspiration pneumonia, Neutropenia |
OMIM:618253 |
Intestinal Dysmotility Syndrome |
|
Projectile vomiting, Abdominal distention, Diarrhea, Decreased intestinal transit time, Feeding d... |
OMIM:620045 |
Orofaciodigital Syndrome Iii |
|
Pectus excavatum, Kyphosis, Postaxial hand polydactyly, Postaxial foot polydactyly, Short sternum |
OMIM:258850 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Epicanthus, Posteriorly rotated ears, Hyperlordosis, Precocious puberty, Synophrys, Limited elbow... |
OMIM:301066 |
Isolated Atp Synthase Deficiency |
|
Respiratory distress, Short stature, Sensorineural hearing impairment, Hypogonadism, Hypothyroidi... |
ORPHA:254913 |
Lead Poisoning |
|
Decreased female libido, Miscarriage, Anorexia, Abnormality of the menstrual cycle, Abdominal pai... |
ORPHA:330015 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Bowing of the legs, Short neck, Triangular shaped distal phalanges of the hand, Abnormal calcific... |
OMIM:271665 |
Cartilage-Hair Hypoplasia |
|
Metaphyseal dysplasia, Lumbar hyperlordosis, Flaring of lower rib cage, Hypoplasia of the odontoi... |
OMIM:250250 |
Diarrhea 8, Secretory Sodium, Congenital |
|
Abdominal distention, Inflammation of the large intestine, Secretory diarrhea |
OMIM:616868 |
Shwachman-Diamond Syndrome 1 |
|
Anterior rib cupping, Ovoid vertebral bodies, Metaphyseal sclerosis, Metaphyseal chondrodysplasia... |
OMIM:260400 |
Post-Traumatic Pituitary Deficiency |
|
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Decreased c... |
ORPHA:95619 |
X-Linked Hypophosphatemia |
|
Shortening of the talar neck, Bowing of the long bones, Craniosynostosis, Bowing of the legs, Bea... |
ORPHA:89936 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Growth delay, Dysphagia, ... |
OMIM:613561 |
Zttk Syndrome |
|
Craniosynostosis, Kyphosis, Rib fusion, Hemivertebrae, Small hand, Short foot, Cervical ribs, Sco... |
OMIM:617140 |
Agnathia-Otocephaly Complex |
|
Respiratory distress, Conductive hearing impairment, Pulmonary hypoplasia, Low-set ears, Tracheom... |
OMIM:202650 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Respiratory distress, Kyphoscoliosis |
OMIM:619099 |
Renpenning Syndrome |
|
Pectus excavatum, Abnormal thumb morphology, Abnormal rib morphology, Clinodactyly of the 5th fin... |
ORPHA:3242 |
Chronic Pneumonitis Of Infancy |
|
Respiratory distress, Cyanosis, Intercostal retractions, Ground-glass opacification, Reduced forc... |
ORPHA:91359 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Intrauterine growth retardation, Feeding difficulties |
ORPHA:26792 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Bronchiectasis, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Crohn's... |
OMIM:619705 |
Poems Syndrome |
|
Diabetes mellitus, Abnormality of the endocrine system, Respiratory insufficiency due to muscle w... |
ORPHA:2905 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Short neck, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification, Irregular ver... |
OMIM:271640 |
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
|
Decreased thyroid-stimulating hormone level, Abnormality of thyroid physiology, Feeding difficult... |
ORPHA:95715 |
Gm1-Gangliosidosis, Type I |
|
Thickened ribs, Short neck, Kyphosis, Hypoplastic vertebral bodies, Scoliosis, Beaking of vertebr... |
OMIM:230500 |
Thyroid Lymphoma |
|
Respiratory distress, Hyperthyroidism, Dyspnea, Upper airway obstruction, Stridor, Dysphagia, Hyp... |
ORPHA:97285 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Neonatal respiratory distress, Neonatal insulin-dependent diabetes mellitus, Precocious puberty, ... |
ORPHA:96191 |
Meckel Syndrome 14 |
|
Cyanosis, Abdominal distention, Pneumothorax, Cardiorespiratory arrest, Pulmonary hypoplasia, Pol... |
OMIM:619879 |
Immunodeficiency 36 With Lymphoproliferation |
|
Splenomegaly, Recurrent upper respiratory tract infections, Bronchiectasis, Chronic lymphatic leu... |
OMIM:616005 |
46,Xy Sex Reversal 1 |
|
Abnormality of male external genitalia, Hypergonadotropic hypogonadism, Elevated circulating lute... |
OMIM:400044 |
Roifman-Chitayat Syndrome |
|
Arthritis, Pneumonia |
OMIM:613328 |
Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Decreased nasal nitric oxide, Bronchiectasis, Productive cough |
OMIM:615434 |
Hypoadrenocorticism, Familial |
|
Cyanosis, Apnea, Adrenal hypoplasia, Feeding difficulties in infancy, Adrenal insufficiency, Vomi... |
OMIM:240200 |
Lethal Congenital Contracture Syndrome 1 |
|
Neonatal death, Widening of cervical spinal canal, Pulmonary hypoplasia |
OMIM:253310 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10 |
|
Osteoarthritis, Bronchiectasis |
OMIM:620080 |
Myopathy And Diabetes Mellitus |
|
Type I diabetes mellitus, Sensorineural hearing impairment, Respiratory distress |
ORPHA:2596 |
Immunodeficiency 58 |
|
Recurrent respiratory infections, Recurrent cutaneous abscess formation, Eczema, Allergic rhiniti... |
OMIM:618131 |
Chromosome 17Q12 Deletion Syndrome |
|
Multicystic kidney dysplasia, Epicanthus, Short stature, Highly arched eyebrow, Sparse eyebrow, C... |
OMIM:614527 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Nausea and vomiting, Intestinal obstruction, Sinusitis, Recurrent intrapulmonary hemorrhage, Cuti... |
ORPHA:183 |
Peutz-Jeghers Syndrome |
|
Neoplasm of the pancreas, Nasal polyposis, Abdominal pain, Bloody diarrhea, Ovarian cyst, Intesti... |
OMIM:175200 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Poor appetite, Abdominal pain, Sma... |
ORPHA:298 |
Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Short neck, Hypoplas... |
ORPHA:3144 |
Acrorenal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Kyphoscoliosis, Missing ribs, Split... |
OMIM:200980 |
Nipah Virus Disease |
|
Respiratory distress, Nausea and vomiting, Anorexia, Recurrent pharyngitis, Cough |
ORPHA:99825 |
Sponastrime Dysplasia |
|
Subglottic stenosis, Epicanthus, Lumbar hyperlordosis, Hypospadias, Rhizomelia, Kyphoscoliosis, P... |
ORPHA:93357 |
Marfan Syndrome |
|
Pulmonary artery dilatation, Emphysema, Pneumothorax, Premature osteoarthritis |
OMIM:154700 |
Sporadic Creutzfeldt-Jakob Disease |
|
Respiratory failure requiring assisted ventilation, Recurrent aspiration pneumonia |
ORPHA:204 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Decreased response to growth hormone stimulation test, Premature thelarche, Nasogastric tube feed... |
ORPHA:268261 |
Mgat2-Cdg |
|
Low-set, posteriorly rotated ears, Respiratory distress, Posteriorly rotated ears, Gastroparesis,... |
ORPHA:79329 |
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Bifid scrotum, Adrenal hyperplasia, Hypospadias, Scrotal hypospadias, Cryptorchidism, Male pseudo... |
OMIM:201810 |
Histiocytoid Cardiomyopathy |
|
Cyanosis, Tachypnea, Renal cyst, Polycystic ovaries, Vomiting, Cough, Pulmonary edema |
ORPHA:137675 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Death in infancy, Cryptorchidism, Abdominal distention, Diarrhea, Vomiting, Decreased liver funct... |
OMIM:608104 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Broad ribs, Joint swelling, Flaring of rib cage, Fused cervical vertebrae |
OMIM:612852 |
Dysostosis Multiplex, Ain-Naz Type |
|
Severe short stature, Abdominal distention, Hip dislocation, Hemivertebrae, Flat acetabular roof,... |
OMIM:619345 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Hypoplasia of the vagina, Clitoral hypertrophy, Short stature, Increased circulating androstenedi... |
OMIM:202010 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Postaxial hand polydactyly, Abnormal rib morphology, Abnormal sternum morphology, Short ribs, Bro... |
ORPHA:2519 |
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures |
|
Respiratory distress, Kyphoscoliosis |
OMIM:617977 |
Riddle Syndrome |
|
Pneumonia, Bronchitis, Neonatal asphyxia, Recurrent pneumonia, Abnormal pulmonary interstitial mo... |
ORPHA:420741 |
Congenital Disorder Of Glycosylation, Type Iu |
|
Respiratory distress, Death in infancy, Neonatal respiratory distress, Feeding difficulties, Scol... |
OMIM:615042 |
Mosaic Trisomy 8 |
|
Camptodactyly of finger, Short neck, Patellar aplasia, Abnormal rib morphology, Narrow pelvis bon... |
ORPHA:96061 |
Oculocerebrofacial Syndrome, Kaufman Type |
|
Respiratory distress, Absent eyebrow, Clitoral hypertrophy, Epicanthus, Telecanthus, Dyspnea, Fee... |
ORPHA:2707 |
Satoyoshi Syndrome |
|
Abnormality of the knee, Short stature, Hyperlordosis, Nephrogenic diabetes insipidus, Abnormal j... |
ORPHA:3130 |
Antley-Bixler Syndrome |
|
Arachnodactyly, Camptodactyly of finger, Craniosynostosis, Abnormal rib morphology, Femoral bowin... |
ORPHA:83 |
Autosomal Dominant Popliteal Pterygium Syndrome |
|
Finger syndactyly, Toe syndactyly, Split hand, Abnormal rib morphology, Popliteal pterygium, Scol... |
ORPHA:1300 |
Synaptic Congenital Myasthenic Syndromes |
|
Respiratory distress, Abnormality of the knee, Hypoventilation, Neonatal respiratory distress, Li... |
ORPHA:98915 |
Congenital Pancreatic Cyst |
|
Abdominal distention, Vomiting, Anorexia, Abdominal pain |
ORPHA:313906 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Craniosynostosis, Ankle flexion contracture, Feeding difficulties in infancy, Gastrostomy tube fe... |
ORPHA:284417 |
Medullary Thyroid Carcinoma |
|
Diarrhea, Primary hyperparathyroidism, Dysphagia, Neoplasm of the lung, Pheochromocytoma, Elevate... |
ORPHA:1332 |
Alagille Syndrome |
|
Hypoplasia of the ulna, Abnormal rib morphology, Abnormal form of the vertebral bodies, Vertebral... |
ORPHA:52 |
Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Increased circulating free T4 concentration, Diabetes mellitus, Goiter, Elevated circulating thyr... |
OMIM:274300 |
Fraser-Like Syndrome |
|
Subglottic stenosis, Ovarian cyst, Contracture of the proximal interphalangeal joint of the 2nd f... |
OMIM:229230 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Respiratory distress, Recurrent respiratory infections, Posteriorly rotated ears, Abnormality of ... |
OMIM:300968 |
Q Fever |
|
Respiratory distress, Pericarditis, Osteomyelitis, Maculopapular exanthema, Pneumonia, Myocarditi... |
ORPHA:781 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Anorexia, Dyspnea, Abdominal distention, Diarrhea, Intermittent jaundice, Neoplasm of the lung, N... |
ORPHA:100085 |
Stt3B-Cdg |
|
Respiratory distress, Small scrotum, Cryptorchidism, Feeding difficulties, Intrauterine growth re... |
ORPHA:370924 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Inflammatory abnormality of the skin, Sinusitis, Skin rash, Pneumonia, Severe B lymphocytopenia, ... |
OMIM:102700 |
Trisomy 13 |
|
Kyphosis, Postaxial hand polydactyly, Abnormal rib morphology, Abnormal pelvic girdle bone morpho... |
ORPHA:3378 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Decreased serum estradiol, Aplasia of the ovary, Aplasia/hypoplasia of the uterus, Streak ovary, ... |
ORPHA:2232 |
Tricuspid Atresia |
|
Pulmonary artery atresia, Cyanosis |
ORPHA:1209 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Precocious puberty, Growth delay, Short stature, Kyphoscoliosis |
OMIM:163200 |
Benign Familial Infantile Epilepsy |
|
Cyanosis, Apnea |
ORPHA:306 |
Eiken Syndrome |
|
Broad femoral neck, Delayed epiphyseal ossification, Long thumb, Flat acetabular roof, Fibular hy... |
OMIM:600002 |
Athyreosis |
|
Short stature, Abdominal distention, Feeding difficulties, Growth delay, Constipation |
ORPHA:95713 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Slender long bone, Brachydactyly, Craniosynostosis, Thin ribs |
OMIM:618265 |
Myotonic Dystrophy 1 |
|
Respiratory distress, Feeding difficulties in infancy, Hypogonadism, Dysphagia, Cholelithiasis, T... |
OMIM:160900 |
Good Syndrome |
|
Abnormal leukocyte morphology, Recurrent respiratory infections, Sinusitis, Recurrent skin infect... |
ORPHA:169105 |
Sclerosteosis 1 |
|
Syndactyly, Sclerotic scapulae, Broad clavicles, 2-3 finger syndactyly, Deviation of finger, Abno... |
OMIM:269500 |
Basal Cell Nevus Syndrome 1 |
|
Vertebral fusion, Down-sloping shoulders, Kyphoscoliosis, Hemivertebrae, Vertebral wedging, Abnor... |
OMIM:109400 |
Spastic Paraplegia-Precocious Puberty Syndrome |
|
Hyperplasia of the Leydig cells, Precocious puberty in males |
ORPHA:2826 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Respiratory distress, Myositis, Tubulointerstitial nephritis, Iron deficiency anemia, Colitis, Ne... |
ORPHA:37042 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... |
ORPHA:52901 |
Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Dyspepsia, Abdominal pain, Abdominal distention, Chronic diarrhea, Vomiting, Nausea |
ORPHA:103907 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Recurrent respiratory infections, Pancytopenia, Abnormal lymphocyte count, Thrombocytopenia, Abno... |
ORPHA:79124 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hemolytic anemia, Pneumonia, Splenomegaly, Chronic otitis media, Thrombocytopenia |
ORPHA:169090 |
Atelosteogenesis Type Ii |
|
Laryngeal stenosis, Epicanthus, Telecanthus, Rhizomelia, Cervical kyphosis, Thoracolumbar kyphosc... |
ORPHA:56304 |
Van Den Ende-Gupta Syndrome |
|
Glenoid fossa hypoplasia, Lateral clavicle hook, 2-3 toe cutaneous syndactyly, Femoral bowing, Kn... |
OMIM:600920 |
Kniest Dysplasia |
|
Respiratory distress, Hip contracture, Enlarged joints, Rhizomelia, Conductive hearing impairment... |
OMIM:156550 |
Xylt1-Cdg |
|
Joint dislocation, Coxa valga, Flared metaphysis, Short long bone, Short femoral neck, Short clav... |
ORPHA:370930 |
Ovarian Fibroma |
|
Ovarian fibroma, Abdominal pain, Abdominal distention, Peritonitis, Gonadal calcification, Pleura... |
ORPHA:314473 |
Arboleda-Tham Syndrome |
|
Respiratory distress, Bilateral cryptorchidism, Anteverted ears, Conjunctivitis, Gastroesophageal... |
OMIM:616268 |
1P36 Deletion Syndrome |
|
11 pairs of ribs, Camptodactyly of finger, Kyphosis, Rib fusion, Spinal canal stenosis, Short foo... |
ORPHA:1606 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Aspiration pneumonia, Cough |
ORPHA:216866 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Sinusitis, Decreased proportion of naive T cells, Pneumonia, Aplasia of the thymus, Atypical or p... |
ORPHA:83471 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Apnea, Episodic tachypnea, Aspiration pneumonia |
ORPHA:79264 |
Familial Papillary Or Follicular Thyroid Carcinoma |
|
Follicular thyroid carcinoma, Papillary thyroid carcinoma, Nodular goiter, Chronic lung disease, ... |
ORPHA:319487 |
Müllerian Aplasia And Hyperandrogenism |
|
Short stature, Synophrys, Primary amenorrhea, Protruding ear, Hypoplasia of the uterus, Increased... |
ORPHA:247768 |
Small Bowel Atresia |
|
Short stature, Abdominal distention, Feeding difficulties, Vomiting, Intrauterine growth retardation |
ORPHA:1201 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Decreased thyroid-stimulating hormone level, Delayed cranial suture closure, Decreased circulatin... |
ORPHA:90674 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Proportionate short stature, Precocious puberty, Sensorineural hearing impairment, Asthma, Growth... |
OMIM:619269 |
Immunodeficiency 12 |
|
Skin rash, Abnormal lymphocyte count, Cheilitis, Bronchiectasis, Recurrent aphthous stomatitis, R... |
OMIM:615468 |
Wrinkly Skin Syndrome |
|
Recurrent sinopulmonary infections, Emphysema |
ORPHA:2834 |
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Respiratory distress, Death in infancy, Thoracic scoliosis, Gastrostomy tube feeding in infancy, ... |
OMIM:620278 |
Vacterl Association With Hydrocephalus |
|
Absent thumb, Radial club hand, Stillbirth, Abnormality of the vertebral column, Abnormal vertebr... |
OMIM:276950 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Respiratory distress, Diarrhea, Vomiting, Feeding difficulties |
OMIM:612075 |
Ellis-Van Creveld Syndrome |
|
Capitate-hamate fusion, Postaxial hand polydactyly, Genu valgum, Postaxial foot polydactyly, Pect... |
OMIM:225500 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent pneumonia, Neutropenia, Bronchiectasis, Conjunctiviti... |
OMIM:601495 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Respiratory distress, Telecanthus, Short stature, Flat acetabular roof, Low-set ears, Protuberant... |
OMIM:617102 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Feeding d... |
OMIM:618426 |
17Q11 Microdeletion Syndrome |
|
Telangiectasia of the skin, Short stature, Precocious puberty, Kyphosis, Abnormal lung morphology... |
ORPHA:97685 |
Gaucher Disease, Perinatal Lethal |
|
Respiratory distress, Apnea, Microtia, Pulmonary hypoplasia, Low-set ears, Dysphagia, Neonatal de... |
OMIM:608013 |
Mucoepithelial Dysplasia, Hereditary |
|
Pneumonia, Eosinophilia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Keratoconjunctiv... |
OMIM:158310 |
Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Respiratory distress, Feeding difficulties, Intrauterine growth retardation, Macrotia, Aplasia/Hy... |
ORPHA:261304 |
Alpha-Mannosidosis, Adult Form |
|
Pancytopenia, Pneumonia, Hepatosplenomegaly |
ORPHA:309288 |
Acquired Methemoglobinemia |
|
Respiratory distress, Cyanosis, Abdominal pain, Dyspnea, Hypoxemia, Vomiting |
ORPHA:464453 |
Aromatase Deficiency |
|
Macroorchidism, postpubertal, Male infertility, Hypergonadotropic hypogonadism, Female infertilit... |
ORPHA:91 |
Perrault Syndrome 4 |
|
Premature ovarian insufficiency, Cubitus valgus, Increased circulating gonadotropin level, Second... |
OMIM:615300 |
Adiposis Dolorosa |
|
Abdominal distention, Constipation |
OMIM:103200 |
Microsporidiosis |
|
Sinusitis, Pneumonia, Bronchitis, Anorexia, Abdominal pain, Abnormality of the parathyroid gland,... |
ORPHA:2552 |
Ascher Syndrome |
|
Abnormal eyelid morphology, Goiter, Upper eyelid edema, Blepharophimosis, Hypothyroidism, Ptosis |
ORPHA:1253 |
Tuberous Sclerosis 2 |
|
Hearing impairment, Precocious puberty, Retinal hamartoma, Renal cyst, Adenoma sebaceum, Hypothyr... |
OMIM:613254 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Bulging epiphyses, Enlargement of the ankles, Bowing of the legs, Enlargement of the costochondra... |
OMIM:241530 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Severe short stature, Posteriorly rotated ears, Cryptorchidism, Respiratory insufficiency, Pulmon... |
OMIM:224410 |
Agammaglobulinemia, X-Linked |
|
Enteroviral hepatitis, Prostatitis, Recurrent pneumonia, Epididymitis, Bronchiectasis, Wheezing, ... |
OMIM:300755 |
Lethal Congenital Contracture Syndrome 10 |
|
Thoracic scoliosis, Overlapping fingers, Short neck, Femoral bowing, Short long bone, Narrow ches... |
OMIM:617022 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged polycystic ovaries, Insulin-resistant diabetes mellitus, Elevated circulating growth hor... |
ORPHA:90301 |
Achondroplasia |
|
Respiratory distress, Death in infancy, Lumbar hyperlordosis, Rhizomelia, Upper airway obstructio... |
OMIM:100800 |
Diffuse Cutaneous Systemic Sclerosis |
|
Nausea and vomiting, Dyspareunia, Telangiectasia of the skin, Dyspnea, Xerostomia, Pulmonary infi... |
ORPHA:220393 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Unilateral ptosis, Cyanosis, Cryptorchidism, Protruding ear, Macrotia, Downslanted palpebral fiss... |
ORPHA:3304 |
Selective Igm Deficiency |
|
Fasciitis, Lymphadenitis, Recurrent cutaneous fungal infections, Decreased proportion of transiti... |
ORPHA:331235 |
Multiple Endocrine Neoplasia Type 1 |
|
Anorexia, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic e... |
ORPHA:652 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Lateral clavicle hook, Preaxial hand polydactyly, Postaxial hand polydactyly, Pectus carinatum, D... |
OMIM:263520 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type |
|
Laryngeal stenosis, Short stature, Kyphoscoliosis, Hip subluxation, Kyphosis, Radial head subluxa... |
ORPHA:93360 |
Premature Ovarian Failure 15 |
|
Irregular menstruation, Secondary amenorrhea, Elevated circulating follicle stimulating hormone l... |
OMIM:618096 |
Otopalatodigital Syndrome Type 2 |
|
Bowing of the long bones, Tarsal synostosis, Short hallux, Camptodactyly of finger, Elbow disloca... |
ORPHA:90652 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Respiratory distress, Lumbar hyperlordosis, Abdominal pain, Dyspnea, Scoliosis, Cough |
ORPHA:86812 |
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Respiratory distress, Recurrent respiratory infections, External genital hypoplasia, Scoliosis, N... |
ORPHA:329178 |
Sacral Agenesis With Vertebral Anomalies |
|
Neonatal death, Absence of the sacrum, Vertebral clefting, Abnormal vertebral morphology |
OMIM:615709 |
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Nasogastric tube feedin... |
ORPHA:254864 |
Lassa Fever |
|
Nausea and vomiting, Menometrorrhagia, Miscarriage, Abdominal pain, Dyspnea, Jaundice, Diarrhea, ... |
ORPHA:99824 |
Phakomatosis Pigmentokeratotica |
|
Precocious puberty, Cryptorchidism, Pheochromocytoma, Scoliosis |
ORPHA:2874 |
Hurler Syndrome |
|
Abnormal clavicle morphology, Camptodactyly of finger, Short neck, Abnormality of the elbow, Abno... |
ORPHA:93473 |
Ear-Patella-Short Stature Syndrome |
|
Respiratory distress, Hypoplasia of penis, Epispadias, Clitoral hypoplasia, Anotia, Microtia, thi... |
ORPHA:2554 |
Pgm3-Cdg |
|
Abnormal CD4:CD8 ratio, Leukopenia, T lymphocytopenia, Neutropenia, Chronic otitis media, Decreas... |
ORPHA:443811 |
Laryngomalacia |
|
Respiratory distress, Congenital laryngeal stridor, Abnormal tracheal morphology |
OMIM:150280 |
Osteogenesis Imperfecta, Type Vii |
|
Multiple rib fractures, Crumpled long bones, Wide cranial sutures, Protrusio acetabuli, Femoral r... |
OMIM:610682 |
Folinic Acid-Responsive Seizures |
|
Respiratory distress, Abdominal distention, Sensorineural hearing impairment, Apnea |
ORPHA:79097 |
Sepsis In Premature Infants |
|
Cyanosis, Abnormal mucociliary clearance, Dyspnea, Nasal flaring, Jaundice, Gastrointestinal dysm... |
ORPHA:90051 |
Mucopolysaccharidosis, Type Vi |
|
Epiphyseal dysplasia, Lumbar hyperlordosis, Ovoid vertebral bodies, Kyphoscoliosis, Anterior wedg... |
OMIM:253200 |
Mitochondrial Pyruvate Carrier Deficiency |
|
Respiratory distress, Epicanthus |
OMIM:614741 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Abnormal respiratory system physiology, Recurrent respiratory infections, Respiratory failure, Pn... |
ORPHA:98905 |
Mucopolysaccharidosis, Type Vii |
|
Anterior beaking of lower thoracic vertebrae, Spatulate ribs, Short neck, Metatarsus adductus, Th... |
OMIM:253220 |
Tuberous Sclerosis 1 |
|
Precocious puberty, Renal cyst, Adenoma sebaceum, Hypothyroidism, Pulmonary lymphangiomyomatosis |
OMIM:191100 |
Thyroid Hemiagenesis |
|
Thyroid agenesis, Abdominal distention, Jaundice, Growth delay, Constipation |
ORPHA:95719 |
Malaria |
|
Respiratory distress, Nausea and vomiting |
ORPHA:673 |
Kagami-Ogata Syndrome |
|
Long clavicles, Kyphoscoliosis, Coxa valga, Long fingers, Thin ribs, Bell-shaped thorax |
OMIM:608149 |
Mercury Poisoning |
|
Respiratory distress, Anorexia, Dyspnea, Episodic abdominal pain, Interstitial pneumonitis, Respi... |
ORPHA:330021 |
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Nodular goiter, Papillary thyroid carcinoma, Chronic lung disease, Goiter |
ORPHA:97290 |
Gray Platelet Syndrome |
|
Bruising susceptibility, Epistaxis, Abnormality of the menstrual cycle |
ORPHA:721 |
Klippel-Trénaunay Syndrome |
|
Gastrointestinal hemorrhage, Pulmonary embolism, Abnormality of the menstrual cycle, Respiratory ... |
ORPHA:90308 |
Hereditary Methemoglobinemia |
|
Cyanosis, Exertional dyspnea |
ORPHA:621 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Bulging epiphyses, Enlargement of the ankles, Bowing of the legs, Subperiosteal bone resorption, ... |
OMIM:264700 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Epicanthus, Hypospadias, Rhizomelia, Precocious puberty, Long eyelashes, Recurrent patellar dislo... |
OMIM:615877 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Reduced subcutaneous adipose tissue, Decreased serum leptin, Decreased fertility in females, Labi... |
OMIM:269700 |
Methemoglobinemia And Ambiguous Genitalia |
|
Bifid scrotum, Cyanosis, Scrotal hypospadias, Hypospadias, Elevated circulating luteinizing hormo... |
OMIM:250790 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Cyanosis, Maternal diabetes, Tachypnea, Anomalous pulmonary venous return, Hypoxemia |
ORPHA:860 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Reduced subcutaneous adipose tissue, Diabetes mellitus, Decreased serum leptin, Decreased fertili... |
OMIM:608594 |
Alström Syndrome |
|
Respiratory distress, Thoracic scoliosis, Decreased response to growth hormone stimulation test, ... |
ORPHA:64 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Neuropathic arthropathy, Recurrent infections due to aspiration, Feeding difficulties in infancy,... |
OMIM:223900 |
Atelosteogenesis, Type I |
|
Laryngeal stenosis, Rhizomelia, Thoracic platyspondyly, Cryptorchidism, Elbow dislocation, Knee d... |
OMIM:108720 |
Camptodactyly Syndrome, Guadalajara Type 3 |
|
Short neck, Abnormal rib morphology, Small hand, Short foot, Spina bifida occulta, Thickened cort... |
ORPHA:488434 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Finger syndactyly, Prominent metopic ridge, Arachnodactyly, Camptodactyly of finger, Tapered fing... |
ORPHA:2215 |
Thyroid Hormone Resistance, Generalized, Autosomal Dominant |
|
Increased circulating free T3, Increased circulating free T4 concentration, Impaired sensitivity ... |
OMIM:188570 |
Muscular Dystrophy, Congenital, With Or Without Seizures |
|
Respiratory distress, Abdominal pain, Feeding difficulties, Respiratory failure, Progressive hear... |
OMIM:620166 |
Auriculocondylar Syndrome |
|
Low-set, posteriorly rotated ears, Respiratory distress, Abnormal pinna morphology, Cleft helix, ... |
ORPHA:137888 |
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome |
|
Thin ribs |
ORPHA:456328 |
Prader-Willi Syndrome Due To Translocation |
|
Respiratory distress, Recurrent respiratory infections, Hypogonadotropic hypogonadism, Anterior p... |
ORPHA:177907 |
Pulmonary Arteriovenous Malformation |
|
Cyanosis, Epistaxis, Dyspnea, Hemothorax, Telangiectasia, Hypoxemia, Gastrointestinal infarctions... |
ORPHA:2038 |
Bifid Nose With Or Without Anorectal And Renal Anomalies |
|
Posteriorly rotated ears, Precocious puberty, Rectovaginal fistula, Low-set ears, Overfolded heli... |
OMIM:608980 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Respiratory distress, Feeding difficulties, Low-set ears, Dysphagia, Intrauterine growth retardation |
ORPHA:89844 |
Restrictive Dermopathy 2 |
|
Respiratory distress, Cyanosis, Feeding difficulties, Gastroesophageal reflux, Intrauterine growt... |
OMIM:619793 |
Meier-Gorlin Syndrome 3 |
|
Small scrotum, Patellar hypoplasia, Gastroesophageal reflux, Micropenis, Genu varum, Bronchomalac... |
OMIM:613803 |
Cardiomyopathy, Dilated, 1Gg |
|
Respiratory distress |
OMIM:613642 |
Occipital Horn Syndrome |
|
Short humerus, Persistent open anterior fontanelle, Pelvic bone exostoses, Coxa valga, Broad clav... |
OMIM:304150 |
Brucellosis |
|
Liver abscess, Bronchitis, Knee osteoarthritis, Leukopenia, Infectious encephalitis, Leukocytosis... |
ORPHA:1304 |
Pendred Syndrome |
|
Congenital sensorineural hearing impairment, Cochlear malformation, Thyroid carcinoma, Compensate... |
OMIM:274600 |
Oculocerebrocutaneous Syndrome |
|
Finger syndactyly, Congenital hip dislocation, Aplasia/Hypoplasia of the distal phalanges of the ... |
ORPHA:1647 |
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Respiratory distress, Epicanthus, Mixed hearing impairment, Posteriorly rotated ears, Short statu... |
OMIM:606164 |
Thyroid Dyshormonogenesis 1 |
|
Growth delay, Constipation, Hypothyroidism, Goiter |
OMIM:274400 |
Premature Ovarian Failure 18 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr... |
OMIM:619203 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Decreased response to growth hormone stimulation test, Gastrointestinal dysmotility, Gonadotropin... |
ORPHA:293987 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Intestinal pseudo-obstruction, Abdominal pain, Abdominal distention, Gastrointestinal dysmotility... |
OMIM:613662 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Coat hanger sign of ribs, Thoracic hypoplasia |
ORPHA:254534 |
Cryptococcosis |
|
Respiratory distress, Osteomyelitis, Lymphoid leukemia, Pneumonia, Nodular pattern on pulmonary H... |
ORPHA:1546 |
Idiopathic Neonatal Atrial Flutter |
|
Respiratory distress, Feeding difficulties in infancy, Tachypnea, Maternal diabetes |
ORPHA:45452 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Premature thelarche, Oral-pharyngeal dysphagia, Sensorineural hearing impairment, Hypothyroidism,... |
OMIM:616878 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Lateral clavicle hook, Early ossification of capital femoral epiphyses, C... |
OMIM:208500 |
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency |
|
Pancreatitis, Aspiration pneumonia |
ORPHA:431361 |
Desmoplastic Small Round Cell Tumor |
|
Neoplasm of the pancreas, Nausea and vomiting, Testicular neoplasm, Abdominal pain, Abdominal dis... |
ORPHA:83469 |
Thyroid Dyshormonogenesis 3 |
|
Compensated hypothyroidism, Increased T3/T4 ratio, Thyroid carcinoma, Goiter |
OMIM:274700 |
Peritoneal Cystic Mesothelioma |
|
Dyspareunia, Metrorrhagia, Abdominal pain, Abdominal distention, Peritonitis, Menorrhagia, Consti... |
ORPHA:168816 |
Adnp Syndrome |
|
Respiratory distress, Short stature, Oral-pharyngeal dysphagia, Cryptorchidism, Bilateral ptosis,... |
ORPHA:404448 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
11 pairs of ribs, Hemivertebrae, Abnormal vertebral morphology |
ORPHA:77298 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Short neck, Hemivertebrae, Femoral bowing, Pectus carinatum, Foot oligodactyly, Aplasia/Hypoplasi... |
OMIM:276820 |
Pitt-Hopkins Syndrome |
|
Supernumerary nipple, Postnatal growth retardation, Cryptorchidism, Feeding difficulties, Upslant... |
ORPHA:2896 |
Steinfeld Syndrome |
|
Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Missing ribs, Hypoplasia of the radius, ... |
OMIM:184705 |
Congenital Disorder Of Glycosylation, Type Ie |
|
Respiratory distress, Ankle flexion contracture, Telangiectasia, Knee flexion contracture, Downsl... |
OMIM:608799 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Respiratory distress, Epicanthus, Telecanthus, Short stature, Feeding difficulties in infancy, Up... |
OMIM:610536 |
Atypical Werner Syndrome |
|
Fasting hyperinsulinemia, Premature graying of hair, Abnormality of the pulmonary artery, Prematu... |
ORPHA:79474 |
Chromosome 8Q22.1 Duplication Syndrome |
|
Laryngeal stenosis, Enlarged interphalangeal joints, Genu recurvatum, Interphalangeal joint contr... |
OMIM:151200 |
Floating-Harbor Syndrome |
|
Enlarged joints, Hypospadias, Short stature, Kyphoscoliosis, Precocious puberty, Cryptorchidism, ... |
ORPHA:2044 |
Orofaciodigital Syndrome I |
|
Epicanthus, Telecanthus, Short stature, Pancreatic cysts, Ovarian cyst, Polycystic kidney dysplas... |
OMIM:311200 |
Mucopolysaccharidosis-Plus Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Epicanthus, Telecanthus, Recurrent bronch... |
OMIM:617303 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Bifid scrotum, Respiratory distress, Craniosynostosis, Cryptorchidism, Aplasia/Hypoplasia of the ... |
ORPHA:1555 |
Perrault Syndrome 6 |
|
Streak ovary, Premature ovarian insufficiency, Sensorineural hearing impairment, Irregular menstr... |
OMIM:617565 |
Campomelic Dysplasia |
|
Respiratory distress, Thoracic scoliosis, Apnea, Cervical kyphosis, Patellar hypoplasia, Sex reve... |
OMIM:114290 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Short neck, Short metatarsal, Hand monodact... |
OMIM:609945 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Long eyebrows, Macrotia, Prominent antihelix, Growth delay, Joint contracture of the 5th finger, ... |
OMIM:614407 |
Partial Androgen Insensitivity Syndrome |
|
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... |
ORPHA:90797 |
Neurofibromatosis Type 1 |
|
Short stature, Abnormal eyelid morphology, Precocious puberty, Cryptorchidism, Abnormality of the... |
ORPHA:636 |
Idiopathic Hypereosinophilic Syndrome |
|
Respiratory distress, Pulmonary embolism, Feeding difficulties in infancy, Colitis, Vomiting, Cou... |
ORPHA:3260 |
Stuve-Wiedemann Syndrome 1 |
|
Enlarged joints, Short neck, Tibial bowing, Femoral bowing, Knee flexion contracture, Short tibia... |
OMIM:601559 |
Japanese Encephalitis |
|
Respiratory distress, Irregular respiration, Genu recurvatum, Anorexia, Abdominal pain, Diarrhea,... |
ORPHA:79139 |
Thyroid Dyshormonogenesis 2A |
|
Decreased circulating T4 concentration, Hypothyroidism, Thyroid defect in oxidation and organific... |
OMIM:274500 |
Multiple Epiphyseal Dysplasia Type 5 |
|
Back pain, Osteoarthritis of the small joints of the hand, Abnormal acetabulum morphology, Multip... |
ORPHA:93311 |
Benign Familial Neonatal Epilepsy |
|
Circumoral cyanosis, Gastroesophageal reflux, Apnea |
ORPHA:1949 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Reduced radioactive iodine uptake, Feeding difficulties in infancy, Elevated circulating thyroid-... |
ORPHA:90673 |
Thyroid Dyshormonogenesis 5 |
|
Growth delay, Hypothyroidism, Goiter |
OMIM:274900 |
Thyroid Dyshormonogenesis 4 |
|
Growth delay, Hypothyroidism, Goiter |
OMIM:274800 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress, Poor appetite, Reye syndrome-like episodes, Diarrhea, Feeding difficulties,... |
ORPHA:927 |
Listeriosis |
|
Respiratory distress, Liver abscess, Abnormal cellular immune system morphology, Granulomatosis, ... |
ORPHA:533 |
Graves Disease, Susceptibility To, 1 |
|
Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Increas... |
OMIM:275000 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Respiratory distress, Neuromuscular dysphagia |
ORPHA:240085 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Thin ribs |
OMIM:614833 |
Arterial Tortuosity Syndrome |
|
Respiratory distress, Prematurely aged appearance, Telangiectasia of the skin, Craniosynostosis, ... |
ORPHA:3342 |
Nasolacrimal Duct Cyst |
|
Chronic irritative conjunctivitis, Intercostal retractions, Abnormal lacrimal sac morphology, Dac... |
ORPHA:141083 |
Thyroid Cancer, Nonmedullary, 4 |
|
Goiter, Papillary thyroid carcinoma, Prostate cancer, Ovarian neoplasm |
OMIM:616534 |
Acute Promyelocytic Leukemia |
|
Purpura, Metrorrhagia, Epistaxis, Anorexia, Productive cough, Diffuse alveolar hemorrhage, Abdomi... |
ORPHA:520 |
Gonadoblastoma |
|
Abdominal pain, Female external genitalia in individual with 46,XY karyotype, Abdominal distentio... |
ORPHA:206484 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory distress, Death in infancy, Tachypnea, Respiratory insufficiency, Respiratory failure... |
OMIM:614299 |
Odontochondrodysplasia |
|
Respiratory distress, Death in infancy, Short stature, Platyspondyly, Scoliosis |
ORPHA:166272 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Respiratory distress, Epicanthus, Gastrostomy tube feeding in infancy, Biliary hyperplasia, Crypt... |
ORPHA:83617 |
Bloom Syndrome |
|
Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Skin rash, Pneumonia, Bronc... |
ORPHA:125 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Recurrent respiratory infections, Pneumonia, Autoimmune thrombocytopenia, Neutropenia, Restrictiv... |
OMIM:607944 |
Acute Radiation Syndrome |
|
Inflammatory abnormality of the skin, Interstitial pneumonitis, Granulocytopenia, Lymphopenia, Th... |
ORPHA:454831 |
X-Linked Dystonia-Parkinsonism |
|
Aspiration pneumonia |
ORPHA:53351 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
11 pairs of ribs, Camptodactyly of finger, Delayed closure of the anterior fontanelle, Metatarsus... |
OMIM:607872 |
Hirschsprung Disease, Susceptibility To, 1 |
|
Abdominal distention, Constipation, Vomiting, Enterocolitis |
OMIM:142623 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Lumbar hyperlordosis, Arachnodactyly, Kyphoscoliosis, Absent thumb, Sagittal craniosynostosis, Ri... |
ORPHA:500150 |
Gm1 Gangliosidosis Type 1 |
|
Spatulate ribs, Pectus carinatum, Hypoplastic vertebral bodies, Flared iliac wing, Short long bon... |
ORPHA:79255 |
Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Reduced circulating prolactin concentration, Elevated circulating thyroid-stimulating hormone con... |
ORPHA:99832 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Arachnodactyly, Genu recurvatum, Craniosynostosis, Metatarsus adductus, Lateral clavicle hook, Me... |
OMIM:182212 |
Congenital Myopathy 22B, Severe Fetal |
|
Hip contracture, Thoracic scoliosis, Scapular winging, Tapered toe, Shoulder flexion contracture,... |
OMIM:620369 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Dyspnea, Thrombocytopenia, Leukopenia, Interstitial pneumonitis, Increased mean ... |
OMIM:127550 |
Proteus Syndrome |
|
Pulmonary embolism, Neoplasm of the thymus, Abnormal lung lobation, Renal cyst, Abnormal form of ... |
ORPHA:744 |
Succinic Acidemia |
|
Respiratory distress |
OMIM:600335 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Postaxial polydactyly, Short neck, Lateral clavicle hook, Preaxial polydactyly, Hypoplastic pubic... |
OMIM:617925 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Medial flaring of the eyebrow, Respiratory distress, Sparse eyelashes, Hooded eyelid, Cupped ear,... |
OMIM:612863 |
Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome |
|
Bifid scrotum, Laryngeal stenosis, Low-set, posteriorly rotated ears, Small scrotum, Bilateral pt... |
ORPHA:324540 |
Tolchin-Le Caignec Syndrome |
|
Hooded eyelid, Precocious puberty, Sensorineural hearing impairment, Nasolacrimal duct obstructio... |
OMIM:618971 |
Fraser Syndrome 1 |
|
Subglottic stenosis, Laryngeal stenosis, Malformed lacrimal duct, Abnormal thymus morphology, Con... |
OMIM:219000 |
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome |
|
Finger syndactyly, Toe syndactyly, Elbow dislocation, Aplasia/Hypoplasia of the phalanges of the ... |
ORPHA:1112 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Dyspnea, Abdominal distention |
OMIM:174050 |
Ethylene Glycol Poisoning |
|
Cyanosis, Gastritis, Nausea, Tachypnea, Episodic respiratory distress, Vomiting, Abnormal pattern... |
ORPHA:31826 |
Schwartz-Jampel Syndrome |
|
Short neck, Coxa vara, Pectus carinatum, Wrist flexion contracture, Abnormally ossified vertebrae... |
ORPHA:800 |
Cystic Fibrosis |
|
Nasal polyposis, Reduced forced expiratory volume in one second, Reduced forced vital capacity, R... |
OMIM:219700 |
Absence Of The Pulmonary Artery |
|
Recurrent respiratory infections, Abnormal pulmonary thoracic imaging finding, Orthopnea, Cyanosi... |
ORPHA:980 |
Panhypophysitis |
|
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Poor appetite,... |
ORPHA:95513 |
Myhre Syndrome |
|
Vertebral fusion, Short stature, Cryptorchidism, Laryngotracheal stenosis, Respiratory insufficie... |
OMIM:139210 |
Al Amyloidosis |
|
Gastrointestinal hemorrhage, Gastroparesis, Nonproductive cough, Dyspnea, Abdominal distention, X... |
ORPHA:85443 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Ectopic posterior pituitary, Anterior pituitary hypoplasia, Decreased response to growth hormone ... |
ORPHA:226307 |
H Syndrome |
|
Abnormal eyebrow morphology, Diabetes mellitus, Short stature, Recurrent pharyngitis, Bronchiecta... |
ORPHA:168569 |
Genetic Transient Congenital Hypothyroidism |
|
Abnormal radioactive iodine uptake test result, Thyroid defect in oxidation and organification of... |
ORPHA:226316 |
Craniofaciofrontodigital Syndrome |
|
Respiratory distress, Gastrointestinal hemorrhage, Epicanthus, Prominent superficial veins, Short... |
ORPHA:363705 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Respiratory distress, Dysphagia |
ORPHA:240103 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Arachnodactyly, Pectus excavatum, Thin ribs, Thin metatarsal cortices, Slender long bone, Lumbar ... |
ORPHA:2463 |
Cyanosis, Transient Neonatal |
|
Jaundice, Cyanosis |
OMIM:613977 |
Fetal Iodine Deficiency Disorder |
|
Congenital hypothyroidism, Congenital goiter, Hearing impairment |
OMIM:228355 |
Weill-Marchesani Syndrome 1 |
|
Lumbar hyperlordosis, Spinal canal stenosis, Scoliosis, Broad phalanges of the hand, Broad ribs, ... |
OMIM:277600 |
Adenohypophysitis |
|
Decreased circulating cortisol level, Decreased female libido, Reduced circulating prolactin conc... |
ORPHA:95512 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Postnatal growth retardation, Cryptorchidism, Pancreatic lymphangiectasis, Abdominal distention, ... |
ORPHA:1655 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Thoracic scoliosis, Gastroesophageal reflux, Severe sensorineural hearing impairment, Conductive ... |
OMIM:620186 |
N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress, Vomiting |
OMIM:237310 |
Kaposiform Lymphangiomatosis |
|
Metrorrhagia, Epistaxis, Pancreatic cysts, Dyspnea, Abnormal lung morphology, Abnormal form of th... |
ORPHA:464329 |
Cerebrofacioarticular Syndrome |
|
Epicanthus, Hypospadias, Short stature, Blepharophimosis, Feeding difficulties in infancy, Conduc... |
ORPHA:314679 |
Myasthenia Gravis |
|
Ptosis, Hyperthyroidism, Dyspnea, Primary adrenal insufficiency, Abnormal thymus morphology, Rheu... |
ORPHA:589 |
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Respiratory distress, Sensorineural hearing impairment, Feeding difficulties, Scoliosis, Gastrost... |
ORPHA:544503 |
Gracile Bone Dysplasia |
|
Slender long bone, Brachydactyly, Flared metaphysis, Thin ribs |
OMIM:602361 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Subglottic stenosis, Decreased response to growth hormone stimulation test, Synophrys, Gastroesop... |
ORPHA:444077 |
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema |
|
Respiratory distress, Palpebral edema, Angioedema, Erythema, Upper airway obstruction, Urticaria |
ORPHA:100057 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Death in infancy, Thyroid lymphangiectasia, Cryptorchidism, Pancreatic lymphangiectasis, Abdomina... |
OMIM:235255 |
Immunodeficiency 23 |
|
Recurrent respiratory infections, Hemolytic anemia, Membranoproliferative glomerulonephritis, All... |
OMIM:615816 |
Thyroid Cancer, Nonmedullary, 1 |
|
Papillary thyroid carcinoma, Non-medullary thyroid carcinoma, Goiter |
OMIM:188550 |
Lethal Congenital Contracture Syndrome 5 |
|
Thin ribs |
OMIM:615368 |
Mohr-Tranebjaerg Syndrome |
|
Aspiration pneumonia |
ORPHA:52368 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Lumbar hyperlordosis, Limited elbow movement, Craniosynostosis, Kyphosis, Laryngotracheal stenosi... |
ORPHA:508533 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Epicanthus, Mild postnatal growth retardation, Short stature, Cryptorchidism, Elevated circulatin... |
OMIM:101800 |
46,Xy Partial Gonadal Dysgenesis |
|
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... |
ORPHA:251510 |
Coccidioidomycosis |
|
Respiratory distress, Abnormality of the spleen, Cough, Morbilliform rash, Abscess, Pulmonary inf... |
ORPHA:228123 |
Microcephalic Primordial Dwarfism, Dauber Type |
|
Subglottic stenosis, Short stature, Abnormal carpal morphology, Madelung deformity, Primary ameno... |
ORPHA:319675 |
Primary Peritoneal Carcinoma |
|
Nausea and vomiting, Abdominal pain, Abdominal distention, Peritonitis, Constipation |
ORPHA:168829 |
Ulbright-Hodes Syndrome |
|
Abnormal penis morphology, Respiratory distress, Abnormal external genitalia, Enlarged labia mino... |
ORPHA:3404 |
Shigellosis |
|
Pneumonia, Abscess, Myocarditis, Peritonitis, Leukocytosis, Thrombocytopenia, Uveitis, Ulcerative... |
ORPHA:810 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Cyanosis, Feeding difficulties in infancy, Stridor, Respiratory failure, Paroxysmal dyspnea |
ORPHA:444013 |
Complete Atrioventricular Septal Defect |
|
Cyanosis, Intercostal retractions, Crackles, Wheezing, Recurrent pneumonia, Tachypnea, Feeding di... |
ORPHA:1329 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Postaxial polydactyly, Unicoronal synostosis, Squared iliac bones, Preaxial polydactyly, Flat ace... |
OMIM:616300 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Telecanthus, Premature ovarian insufficiency, Highly arched eyebrow, Female infertility, Increase... |
OMIM:110100 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Precocious puberty, Cryptorchidism, Encopresis, Feeding difficulties, Gastroesophageal reflux, Co... |
OMIM:616682 |
Schinzel-Giedion Syndrome |
|
Respiratory distress, Renal cyst, Shallow orbits, Micropenis, Streak ovary, Hypospadias, Abnormal... |
ORPHA:798 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Neonatal respiratory distress, Recurrent aspiration pneumonia |
ORPHA:79243 |
Orofaciodigital Syndrome Ix |
|
Recurrent aspiration pneumonia |
OMIM:258865 |
Wiskott-Aldrich Syndrome |
|
Recurrent respiratory infections, Recurrent intrapulmonary hemorrhage, Sinusitis, Epistaxis, Abno... |
ORPHA:906 |
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
Incomplete partition of the cochlea type II, Sensorineural hearing impairment, Enlarged vestibula... |
OMIM:600791 |
Trisomy 1Q |
|
Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Preaxial hand polydactyly, Short thorax,... |
ORPHA:261344 |
Hsd10 Disease, Infantile Type |
|
Gastrointestinal dysmotility, Cyanosis, Dysphagia, Hearing impairment |
ORPHA:391428 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Pneumonia, Episodic tachypnea, Jaundice, Tachypnea, Feeding difficulties, V... |
ORPHA:26793 |
8Q24.3 Microdeletion Syndrome |
|
Respiratory distress, Ectopic posterior pituitary, Thoracic scoliosis, Congenital hip dislocation... |
ORPHA:508488 |
Lethal Recessive Chondrodysplasia |
|
Respiratory distress, Flared elbow metaphyses |
ORPHA:1423 |
Platyspondylic Dysplasia, Torrance Type |
|
Abdominal distention, Abnormal carpal morphology, Platyspondyly, Pulmonary hypoplasia, Low-set ea... |
ORPHA:85166 |
Acquired Generalized Lipodystrophy |
|
Insulin-resistant diabetes mellitus, Hyperinsulinemia, Progeroid facial appearance, Polycystic ov... |
ORPHA:79086 |
Breath-Holding Spells |
|
Cyanosis |
OMIM:607578 |
Immunodeficiency 31C |
|
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Lym... |
OMIM:614162 |
Viss Syndrome |
|
Chronic gastritis, Eczema, Dyspnea, Asthma, Pneumothorax, Hypereosinophilia, Atopic dermatitis, P... |
OMIM:619472 |
Spondyloenchondrodysplasia |
|
Pancytopenia, Autoimmune hemolytic anemia, Skin rash, Pneumonia, Autoimmune thrombocytopenia, Hep... |
ORPHA:1855 |
Monosomy 9Q22.3 |
|
Short neck, Pectus excavatum, Kyphosis, Abnormal rib morphology, Abnormality of the vertebral col... |
ORPHA:77301 |
Premature Ovarian Failure 13 |
|
Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l... |
OMIM:617442 |
Bangstad Syndrome |
|
Severe short stature, Insulin-resistant diabetes mellitus, Primary gonadal insufficiency, Goiter |
OMIM:210740 |
Episodic Ataxia Type 1 |
|
Respiratory distress, Kyphoscoliosis, Nausea, Scoliosis |
ORPHA:37612 |
Gaucher Disease, Type Ii |
|
Apnea, Thrombocytopenia, Splenomegaly, Stridor, Cough, Bronchiolitis, Recurrent aspiration pneumo... |
OMIM:230900 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Thyroid agenesis, Feeding difficulties in infancy, Abdominal distention, Elevated circulating thy... |
OMIM:218700 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Neonatal death, Posterior rib fusion, Butterfly vertebrae |
OMIM:265380 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Bifid scrotum, Respiratory distress, Hypospadias, Posteriorly rotated ears, Craniosynostosis, Fee... |
OMIM:123790 |
Leukocyte Adhesion Deficiency |
|
Sinusitis, Severe periodontitis, Conjunctivitis, Otitis media, Vaginitis, Polycythemia, Respirato... |
ORPHA:2968 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Death in infancy, Cyanosis, Hypospadias, Apnea, Feeding difficulties in infancy, Sensorineural he... |
OMIM:252010 |
Hutchinson-Gilford Progeria Syndrome |
|
Prominent superficial blood vessels, Osteoarthritis, Shallow orbits, Conductive hearing impairmen... |
ORPHA:740 |
Laryngeal Abductor Paralysis |
|
Stridor, Cyanosis, Dysphagia |
OMIM:150260 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Telangiectasia of the skin, Hydrocele testis, Microtia, Scoliosis, Ovarian serous cystadenoma |
ORPHA:276280 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory tract infec... |
ORPHA:308552 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Respiratory distress, Nausea and vomiting, Anorexia, Abdominal pain, Feeding difficulties |
ORPHA:79312 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Bell-shaped thorax, Horizontal ribs |
OMIM:614857 |
Infantile Neuroaxonal Dystrophy |
|
Apneic episodes in infancy, Aspiration pneumonia |
ORPHA:35069 |
Cerebrocostomandibular Syndrome |
|
Rib gap, 10 pairs of ribs, 11 pairs of ribs, Congenital hip dislocation, Calcaneal epiphyseal sti... |
OMIM:117650 |
Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors |
|
Euthyroid multinodular goiter, Papillary thyroid carcinoma |
OMIM:138800 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Diarrhea, Erythema, Peritoni... |
ORPHA:343 |
Severe Congenital Nemaline Myopathy |
|
Abnormal thorax morphology, Adducted thumb, Thin ribs |
ORPHA:171430 |
Familial Adenomatous Polyposis 4 |
|
Ovarian cyst, Uterine leiomyoma, Thyroid adenoma, Renal cyst |
OMIM:617100 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 23 |
|
Death in infancy, Hypoventilation, Abdominal distention, Knee contracture, Feeding difficulties, ... |
OMIM:620275 |
Immunodeficiency 82 With Systemic Inflammation |
|
Osteomyelitis, Skin rash, Pneumonia, Bronchitis, Recurrent skin infections, Gastritis, Decreased ... |
OMIM:619381 |
Goodpasture Syndrome |
|
Cyanosis, Nodular pattern on pulmonary HRCT, Ground-glass opacification, Crackles, Increased DLCO... |
OMIM:233450 |
Shwachman-Diamond Syndrome |
|
Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Sinusitis, Skin rash, Eczema, Pneum... |
ORPHA:811 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Respiratory distress, Laryngeal stenosis, Multicystic kidney dysplasia, Pneumonia, Dyspnea, Pneum... |
ORPHA:79404 |
Multiple Endocrine Neoplasia Type 2 |
|
Reduced subcutaneous adipose tissue, Paraganglioma of head and neck, Cervical neoplasm, Thyroid C... |
ORPHA:653 |
Lipodystrophy, Familial Partial, Type 2 |
|
Reduced subcutaneous adipose tissue, Prominent superficial veins, Labial pseudohypertrophy, Insul... |
OMIM:151660 |
Cap Polyposis |
|
Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Hematochezia, Constipation |
ORPHA:160148 |
Mucopolysaccharidosis, Type Iiid |
|
Epiphyseal dysplasia, Thoracic scoliosis, Thickened ribs, Pilonidal sinus, Short neck, Ovoid thor... |
OMIM:252940 |
Treacher-Collins Syndrome |
|
Hypoplasia of penis, Small scrotum, Absent eyelashes, Cryptorchidism, Tracheoesophageal fistula, ... |
ORPHA:861 |
Cocaine Intoxication |
|
Respiratory distress, Diffuse alveolar hemorrhage, Hyperventilation, Abdominal pain, Wheezing, Pn... |
ORPHA:90068 |
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Multicystic kidney dysplasia, Multinodular goiter |
ORPHA:2091 |
Sheehan Syndrome |
|
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Poor appetite,... |
ORPHA:91355 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Ankle flexion contracture, Abdominal pain, Abdominal distention, Diarrhea, Respiratory insufficie... |
ORPHA:100924 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Long toe, Overlapping toe, Pectus excavatum, Coat hanger sign of ribs, Prominent sternum, Camptod... |
ORPHA:254528 |
Branchiootorenal Syndrome 1 |
|
Mixed hearing impairment, Congenital hip dislocation, Lacrimal duct stenosis, Dilatated internal ... |
OMIM:113650 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Respiratory distress, Growth delay, Nausea and vomiting |
ORPHA:289916 |
Hypoglossia With Situs Inversus |
|
Respiratory distress, Feeding difficulties in infancy, Malnutrition, Upper airway obstruction, Lo... |
OMIM:612776 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Aspiration pneumonia |
OMIM:619167 |
Glutaric Aciduria Iii |
|
Diarrhea, Hyperthyroidism, Vomiting, Goiter |
OMIM:231690 |
Visceral Myopathy, Familial, With External Ophthalmoplegia |
|
Gastroparesis, Abdominal pain, Abdominal distention, Malnutrition, Ptosis |
OMIM:277320 |
Combined Oxidative Phosphorylation Deficiency 25 |
|
Aspiration pneumonia |
OMIM:616430 |
3-Methylglutaconic Aciduria, Type Viib |
|
Respiratory distress, Rhizomelia, Recurrent pneumonia, Feeding difficulties, Growth delay, Tube f... |
OMIM:616271 |
Cowden Syndrome |
|
Abnormal penis morphology, Endometrial carcinoma, Short stature, Follicular thyroid carcinoma, He... |
ORPHA:201 |
Premature Aging Syndrome, Penttinen Type |
|
Brachydactyly, Hyperextensibility of the knee, Thin ribs, Tibial bowing, Slender long bone, Short... |
OMIM:601812 |
Combined Oxidative Phosphorylation Deficiency 53 |
|
Death in infancy, Short stature, Abdominal distention, Arthritis, Death in childhood, Septic arth... |
OMIM:619423 |
Blepharochalasis And Double Lip |
|
Blepharochalasis, Goiter |
OMIM:109900 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Respiratory distress, Anorexia, Oral-pharyngeal dysphagia, Xerostomia, Gastrointestinal inflammat... |
ORPHA:95455 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Growth delay, Abdominal distention, Short stature, Delayed puberty |
ORPHA:369 |
Cystic Fibrosis |
|
Recurrent respiratory infections, Nasal polyposis, Sinusitis, Reduced forced expiratory volume in... |
ORPHA:586 |
Atrial Septal Defect, Ostium Primum Type |
|
Recurrent respiratory infections, Cyanosis, Dyspnea, Tachypnea, Abnormal respiratory system physi... |
ORPHA:99106 |
Kagami-Ogata Syndrome |
|
Kyphoscoliosis, Short neck, Coxa valga, Bell-shaped thorax, Coat hanger sign of ribs, Thoracic hy... |
ORPHA:254519 |
Congenital Tricuspid Valve Dysplasia |
|
Respiratory failure requiring assisted ventilation, Cyanosis, Tachypnea, Anomalous pulmonary veno... |
ORPHA:555874 |
Hydatidiform Mole |
|
Nausea and vomiting, Menometrorrhagia, Miscarriage, Hyperthyroidism, Enlarged uterus |
ORPHA:99927 |
Premature Ovarian Failure 9 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Hypoplasia of th... |
OMIM:615724 |
Qazi-Markouizos Syndrome |
|
Cryptorchidism, Delayed ossification of carpal bones, Abdominal distention, Chronic constipation |
ORPHA:3010 |
Proximal Spinal Muscular Atrophy |
|
Hypoventilation, Neonatal respiratory distress, Recurrent infections due to aspiration, Respirato... |
ORPHA:70 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Respiratory distress, Epicanthus, Short stature, Hydrometrocolpos, Aplasia of the epiglottis, Low... |
OMIM:617088 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Normocytic anemia, Normochromic anemia, Skin rash, Pneumonia |
ORPHA:247691 |
Holocarboxylase Synthetase Deficiency |
|
Respiratory distress, Nausea and vomiting, Anorexia, Tachypnea, Keratoconjunctivitis, Growth delay |
ORPHA:79242 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Respiratory distress, Death in infancy, Feeding difficulties, Inspiratory stridor, Irregular resp... |
OMIM:604377 |
Dermatomyositis |
|
Recurrent respiratory infections, Telangiectasia of the skin, Abnormal eyelid morphology, Feeding... |
ORPHA:221 |
Carnitine Deficiency, Systemic Primary |
|
Respiratory distress, Diarrhea, Vomiting |
OMIM:212140 |
Fanconi Anemia, Complementation Group F |
|
Leukopenia, Thrombocytopenia, Pneumonia, Anemia |
OMIM:603467 |
Thyrocerebrorenal Syndrome |
|
Sensorineural hearing impairment, Euthyroid goiter |
ORPHA:3327 |
Congenital Short Bowel Syndrome |
|
Abnormal peristalsis, Projectile vomiting, Abdominal distention, Chronic diarrhea, Decreased inte... |
OMIM:615237 |
Osteogenesis Imperfecta |
|
Cervical kyphosis, Abnormal tibia morphology, Osteoarthritis, Abnormal femur morphology, Abnormal... |
ORPHA:666 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hemolytic anemia, Brain abscess, Pneumonia, Respiratory tract infection, Dyspnea, Myocarditis, Le... |
ORPHA:544482 |
Cryofibrinogenemia, Familial Primary |
|
Acrocyanosis |
OMIM:123540 |
Celiac Disease, Susceptibility To, 1 |
|
Short stature, Stomatitis, Abdominal pain, Postnatal growth retardation, Abdominal distention, Di... |
OMIM:212750 |
Familial Dysautonomia |
|
Recurrent respiratory infections, Abnormal pleura morphology, Feeding difficulties in infancy, Gr... |
ORPHA:1764 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Respiratory distress, Recurrent respiratory infections, Hypospadias, Apnea, Sensorineural hearing... |
ORPHA:17 |
Deiodinase, iodothyronine, type I |
|
Euthyroid hyperthyroxinemia, Goiter |
OMIM:147892 |
Thyroid Hormone Plasma Membrane Transport Defect |
|
Euthyroid hyperthyroxinemia, Goiter |
OMIM:188560 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Hyperth... |
OMIM:613239 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Respiratory distress, Recurrent respiratory infections, Epicanthus, Telecanthus, Lumbar hyperlord... |
ORPHA:505248 |
Chiari Malformation Type Ii |
|
Cyanosis, Feeding difficulties, Inspiratory stridor, Dysphagia |
OMIM:207950 |
Craniotubular Dysplasia, Ikegawa Type |
|
Metaphyseal dysplasia, Increased intervertebral space, Broad ischia, Diaphyseal dysplasia, Platys... |
OMIM:619727 |
Atrial Septal Defect, Coronary Sinus Type |
|
Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Anomalous pulmonary venous return, P... |
ORPHA:99104 |
Thyrocerebroretinal Syndrome |
|
Sensorineural hearing impairment, Goiter |
OMIM:274240 |
X-Linked Acrogigantism |
|
Enlarged pituitary gland, Decreased thyroid-stimulating hormone level, Elevated circulating growt... |
ORPHA:300373 |
Bickerstaff Brainstem Encephalitis |
|
Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Respiratory tract inf... |
ORPHA:79138 |
Tuberous Sclerosis Complex |
|
Respiratory distress, Retinal astrocytic hamartoma, Respiratory tract infection, Retinal hamartom... |
ORPHA:805 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Respiratory distress, Abnormal eyelid morphology, Epispadias, Abnormal fallopian tube morphology,... |
ORPHA:2556 |
Hypermobile Ehlers-Danlos Syndrome |
|
Joint dislocation, Nausea and vomiting, Epicanthus, Apnea, Abnormality of the menstrual cycle, El... |
ORPHA:285 |
Hennekam-Beemer Syndrome |
|
Mastocytosis, Pneumonia, Respiratory insufficiency |
ORPHA:2135 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Hyperextensibility of the finger joints, Syndactyly, Aplasia/Hypoplasia of the middle phalanges o... |
OMIM:151050 |
Microlissencephaly-Micromelia Syndrome |
|
Hypoparathyroidism, Abnormal circulating calcium-phosphate regulating hormone concentration, Palp... |
ORPHA:50810 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Respiratory distress, Glandular hypospadias, Pneumothorax, Pulmonary hypoplasia |
OMIM:620306 |
Mirage Syndrome |
|
Thrombocytopenia, Leukopenia, Aspiration pneumonia, Hypoplastic spleen, Lymphopenia, Anemia |
OMIM:617053 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Growth delay, Cyanosis, Exertional dyspnea |
OMIM:250800 |
Multiple Endocrine Neoplasia, Type Iib |
|
Hyperlordosis, Kyphosis, Diarrhea, Pheochromocytoma, Constipation, Scoliosis, Elevated circulatin... |
OMIM:162300 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Respiratory distress, Epicanthus, Telecanthus, External ear malformation, Feeding difficulties in... |
ORPHA:438216 |
Craniorachischisis |
|
Bifid sternum |
ORPHA:63260 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Recurrent respiratory infections, Tracheobronchial leiomyomatosis, Keratitis, Dyspnea, Aspiration... |
ORPHA:1018 |
Aicardi-Goutieres Syndrome 1 |
|
Diabetes insipidus, Short stature, Feeding difficulties in infancy, Erythema, Prolonged neonatal ... |
OMIM:225750 |
Dravet Syndrome |
|
Limited knee extension, Cyanotic episode |
ORPHA:33069 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Short neck, Hemivertebrae, Tibial bowing, Narrow chest, Hypoplastic iliac wing, Small proximal ti... |
ORPHA:96334 |
Infantile Krabbe Disease |
|
Respiratory distress, Prolonged brainstem auditory evoked potentials, Nasogastric tube feeding in... |
ORPHA:206436 |
Osteoglophonic Dysplasia |
|
Respiratory distress, Telecanthus, Severe short stature, Hypospadias, Camptodactyly of finger, Cr... |
OMIM:166250 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Hyperthyroidism, Diabetes mellitus, Gastroparesis, Hearing impairment, Goiter, Respiratory insuff... |
ORPHA:254892 |
Encephalopathy, Ethylmalonic |
|
Death in infancy, Chronic diarrhea, Feeding difficulties, Acrocyanosis, Petechiae |
OMIM:602473 |
Autosomal Dominant Centronuclear Myopathy |
|
Thin ribs |
ORPHA:169189 |
Malignant Peritoneal Mesothelioma |
|
Abdominal pain, Dyspnea, Abdominal distention, Peritonitis, Ileus |
ORPHA:168811 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Intestinal pseudo-obstruction, Feeding difficulties in infancy, Abdominal distention, Vomiting, D... |
OMIM:300048 |
Lymphatic Malformation 7 |
|
Respiratory distress, Abdominal distention, Chylothorax, Pleural effusion, Pulmonary edema |
OMIM:617300 |
Lissencephaly Due To Lis1 Mutation |
|
Aspiration pneumonia |
ORPHA:95232 |
Spondyloepiphyseal Dysplasia Congenita |
|
Respiratory distress, Lumbar hyperlordosis, Ovoid vertebral bodies, Limited elbow movement, Kypho... |
OMIM:183900 |
Ovarian Dysgenesis 3 |
|
Female infertility, Elevated circulating luteinizing hormone level, Primary amenorrhea, Elevated ... |
OMIM:614324 |
Goiter, Multinodular 2 |
|
Euthyroid multinodular goiter |
OMIM:300273 |
Neuromuscular Oculoauditory Syndrome |
|
Respiratory distress, Epicanthus, Posteriorly rotated ears, Sensorineural hearing impairment, Kne... |
OMIM:618733 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Reye syndrome-l... |
ORPHA:348 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Respiratory distress, Cyanosis, Apnea, Feeding difficulties, Pleural effusion, Pulmonary edema |
OMIM:261740 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Sacrococcygeal teratoma, Long clavicles, Increased density of long bones, Short neck, Wide distal... |
OMIM:269150 |
Wolman Disease |
|
Nausea and vomiting, Abdominal distention, Malnutrition, Growth delay, Steatorrhea, Hepatic failure |
ORPHA:75233 |
Familial Multinodular Goiter |
|
Hyperthyroidism, Pleuropulmonary blastoma, Multinodular goiter, Ovarian neoplasm, Thyroid carcino... |
ORPHA:276399 |
Atrial Septal Defect, Ostium Secundum Type |
|
Orthopnea, Cyanosis, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance,... |
ORPHA:99103 |
Alkaptonuria |
|
Arthropathy, Vertebral fusion, Low back pain, Kyphosis, Arthritis, Limitation of knee mobility, I... |
OMIM:203500 |
Carey-Fineman-Ziter Syndrome |
|
Laryngeal stenosis, Epicanthus, Short stature, Glandular hypospadias, Growth delay, Scoliosis, Do... |
ORPHA:1358 |
Thyroid Hypoplasia |
|
Short stature, Abdominal distention, Jaundice, Growth delay, Constipation, Hypothyroidism, Thyroi... |
ORPHA:95720 |
Hemorrhagic Fever-Renal Syndrome |
|
Respiratory distress, Pneumonia, Epistaxis, Abdominal pain, Hematemesis, Dyspnea, Diarrhea, Melen... |
ORPHA:340 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Pulmonary arteriovenou... |
OMIM:187300 |
Obesity-Hypoventilation Syndrome |
|
Hypoventilation, Cyanosis |
OMIM:257500 |
Pediatric Systemic Lupus Erythematosus |
|
Abdominal pain, Dyspnea, Diarrhea, Abdominal distention, Arthritis, Vomiting, Pleural effusion |
ORPHA:93552 |
Nestor-Guillermo Progeria Syndrome |
|
Wide cranial sutures, Limited elbow movement, Delayed closure of the anterior fontanelle, Thin ri... |
OMIM:614008 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Respiratory distress, Ptosis, Respiratory insufficiency due to muscle weakness, Sensorineural hea... |
OMIM:220110 |
Alternating Hemiplegia Of Childhood |
|
Respiratory distress, Apnea, Anorexia, Oral-pharyngeal dysphagia, Abdominal distention, Gastroint... |
ORPHA:2131 |
Triosephosphate Isomerase Deficiency |
|
Respiratory distress, Death in infancy, Respiratory insufficiency due to muscle weakness, Kyphosi... |
OMIM:615512 |
Scimitar Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Abnormal lung morphology, Partial anomalo... |
ORPHA:185 |
Weill-Marchesani Syndrome 2 |
|
Short metacarpal, Lumbar hyperlordosis, Short metatarsal, Spinal canal stenosis, Elbow flexion co... |
OMIM:608328 |
Non-Acquired Panhypopituitarism |
|
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... |
ORPHA:90695 |
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Recurrent pneumonia, Recurrent aspiration pneumonia |
OMIM:300472 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Congenital hip dislocation, Short stature, Adrenal hypoplasia, Erythema, Mild intrauterine growth... |
OMIM:308050 |
Vater/Vacterl Association |
|
Syndactyly, Absent radius, Short thumb, Hypoplasia of the radius, Abnormal rib morphology, Preaxi... |
OMIM:192350 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Low-set, posteriorly rotated ears, Respiratory distress, Hypoplasia of penis, Narrow internal aud... |
ORPHA:990 |
Myasthenic Syndrome, Congenital, 21, Presynaptic |
|
Cyanosis, Apnea, Meconium ileus, Respiratory insufficiency, Knee flexion contracture, Feeding dif... |
OMIM:617239 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Psoriasiform dermatitis, Severe B lymphocytopenia, Autoimmune thrombocytopenia, Recurrent pharyng... |
ORPHA:293978 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Death in infancy, Cyanosis, Partial anomalous pulmonary venous return, Renal cyst, Low-set ears |
OMIM:617478 |
Unilateral Polymicrogyria |
|
Cyanosis, Apnea, Epistaxis, Pulmonary arteriovenous malformation, Pseudobulbar paralysis, Infanti... |
ORPHA:268943 |
Congenital Enterovirus Infection |
|
Respiratory distress, Pleural effusion, Hepatic failure |
ORPHA:292 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Cyanosis, Apnea, Hepatic failure |
OMIM:261680 |
Congenital Laryngeal Web |
|
Respiratory distress, Stridor, Short stature |
ORPHA:2374 |
Amoebiasis Due To Free-Living Amoebae |
|
Sinusitis, Pneumonia, Respiratory tract infection, Pustule, Granuloma, Infectious encephalitis, I... |
ORPHA:68 |
Hermansky-Pudlak Syndrome |
|
Gastrointestinal hemorrhage, Menometrorrhagia, Epistaxis, Anorexia, Abdominal pain, Dyspnea, Long... |
ORPHA:79430 |
Leopard Syndrome 1 |
|
Epicanthus, Hypospadias, Posteriorly rotated ears, Limited elbow movement, Kyphoscoliosis, Delaye... |
OMIM:151100 |
Ramos-Arroyo Syndrome |
|
Respiratory distress, Severe short stature, Feeding difficulties in infancy, Dacryocystitis, Xero... |
ORPHA:1051 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Plethora, Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm ... |
ORPHA:99889 |
Thyroid Ectopia |
|
Short stature, Abnormality of the thyroid gland, Abdominal distention, Jaundice, Growth delay, Co... |
ORPHA:95712 |
Truncus Arteriosus |
|
Cyanosis, Anomalous origin of one pulmonary artery from ascending aorta, Pulmonary artery stenosi... |
ORPHA:3384 |
Primary Dystonia, Dyt4 Type |
|
Blepharospasm, Respiratory distress, Kyphoscoliosis, Dysphagia |
ORPHA:98805 |
Waardenburg Syndrome, Type 1 |
|
Sprengel anomaly, Supernumerary ribs, Supernumerary vertebrae |
OMIM:193500 |
Mucolipidosis Type Ii |
|
Recurrent respiratory infections, Epicanthus, Prominent metopic ridge, Hip contracture, Respirato... |
ORPHA:576 |
Aicardi-Goutieres Syndrome 7 |
|
Hemolytic anemia, Atrophic gastritis, Pancytopenia, Skin rash, Chilblains, Pneumonia, Thrombocyto... |
OMIM:615846 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Pneumonia |
ORPHA:90790 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Cyanosis, Apnea, Hearing impairment |
OMIM:619580 |
Tetanus |
|
Respiratory distress, Bowel incontinence, Abdominal pain, Tachypnea, Dysphagia |
ORPHA:3299 |
Wilson Disease |
|
Acute hepatic failure, Abnormality of the menstrual cycle, Jaundice, Arthritis, Joint swelling, B... |
ORPHA:905 |
Double Outlet Left Ventricle |
|
Cryptorchidism, Pulmonary artery stenosis, Tachypnea, Cyanosis |
ORPHA:3427 |
Pseudo-Torch Syndrome 2 |
|
Thin ribs |
OMIM:617397 |
Glucose/Galactose Malabsorption |
|
Hyperactive bowel sounds, Abdominal distention, Chronic diarrhea |
OMIM:606824 |
Dextrocardia |
|
Congenital hip dislocation, Abnormal rib morphology |
ORPHA:1666 |
Postinfectious Vasculitis |
|
Palpable purpura, Cutis marmorata, Pneumonia, Anorexia, Abdominal pain, Orchitis, Gastrointestina... |
ORPHA:48435 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Low-set, posteriorly rotated ears, Respiratory distress, Telecanthus, Congenital hip dislocation,... |
ORPHA:480880 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Flexion contracture of finger, Short stature, Camptodactyly of finger, Progeroid facial appearanc... |
OMIM:256040 |
Secondary Short Bowel Syndrome |
|
Small intestinal dysmotility, Abdominal distention, Diarrhea, Malnutrition, Enterocolitis, Growth... |
ORPHA:95427 |
Congenital Alveolar Capillary Dysplasia |
|
Respiratory distress, Absent gallbladder, Tracheoesophageal fistula, Pulmonary arterial hypertens... |
ORPHA:210122 |
Chops Syndrome |
|
Splenomegaly, Anomalous pulmonary venous return, Aspiration pneumonia, Tracheomalacia, Chronic lu... |
OMIM:616368 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4 |
|
Abdominal distention, Recurrent respiratory infections, Hypoperistalsis |
OMIM:619365 |
Peripheral Motor Neuropathy-Dysautonomia Syndrome |
|
Achalasia, Acrocyanosis |
ORPHA:2400 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Inflammatory abnormality of the skin, Autoimmune hemolytic anemia, Eczema, Autoimmune thrombocyto... |
ORPHA:391487 |
Cerebrocostomandibular Syndrome |
|
Clinodactyly of the 5th finger, Kyphosis, Posterior rib gap, Bell-shaped thorax |
ORPHA:1393 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Respiratory distress, Pulmonary arterial hypertension, Growth delay, Hypospadias |
OMIM:619272 |
Osteopathia Striata With Cranial Sclerosis |
|
Arachnodactyly, Delayed closure of the anterior fontanelle, Pectus excavatum, Thoracolumbar kypho... |
OMIM:300373 |
Cholera |
|
Tachypnea, Aspiration pneumonia, Hyperventilation |
ORPHA:173 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Recurrent respiratory infections, Cyanosis, Aortopulmonary window, Pulmonary hypoplasia, Pulmonar... |
ORPHA:99050 |
Hypothyroidism, Congenital, Nongoitrous, 5 |
|
Thyroid agenesis, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypo... |
OMIM:225250 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Cyanosis, Sudden episodic apnea, Respiratory insufficiency, Hepatic failure |
ORPHA:159 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Joint dislocation, Congenital hip dislocation, Arachnodactyly, Protrusio acetabuli, Kyphoscoliosi... |
OMIM:225400 |
Gm1 Gangliosidosis |
|
Recurrent respiratory infections, Splenomegaly, Hepatosplenomegaly, Aspiration pneumonia, Infecti... |
ORPHA:354 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Hypoventilation, Apnea, Hypopnea, Restrictive ventilatory defect, Aspiration pneumonia |
OMIM:619482 |
Constricting Bands, Congenital |
|
Abnormal rib cage morphology, Syndactyly, Hand polydactyly, Scoliosis |
OMIM:217100 |
Orofaciodigital Syndrome Type 14 |
|
Low-set, posteriorly rotated ears, Telecanthus, Bilateral cryptorchidism, Epispadias, Aplasia of ... |
ORPHA:434179 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Sensorineural hearing impairment, Cyanosis, Dysphagia, Genu valgum |
ORPHA:488627 |
Hypothyroidism, Congenital, Nongoitrous, 1 |
|
Elevated circulating thyroid-stimulating hormone concentration, Hypothyroidism, Thyroid hypoplasi... |
OMIM:275200 |
Simpson-Golabi-Behmel Syndrome |
|
Finger syndactyly, Vertebral fusion, Congenital hip dislocation, Toe syndactyly, Camptodactyly of... |
ORPHA:373 |
Hereditary Angioedema Type 1 |
|
Respiratory distress, Abdominal pain, Dyspnea, Diarrhea, Urticaria, Dermatographic urticaria, Vom... |
ORPHA:100050 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Respiratory distress, Feeding difficulties, Stridor, Gastroesophageal reflux, Poor suck |
OMIM:615595 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Nausea and vomiting, Hypothyroidism, Hashimoto thyroiditis, Goiter |
ORPHA:83601 |
Doors Syndrome |
|
Respiratory distress, Epicanthus, Adrenal hyperplasia, Sagittal craniosynostosis, Bilateral ptosi... |
ORPHA:79500 |
Apert Syndrome |
|
Anomalous tracheal cartilage, Limited elbow movement, Sagittal craniosynostosis, Cryptorchidism, ... |
OMIM:101200 |
Congenital Disorder Of Deglycosylation 1 |
|
Respiratory distress, Recurrent respiratory infections, Oral-pharyngeal dysphagia, Scoliosis, Low... |
OMIM:615273 |
Fucosidosis |
|
Kyphosis, Vascular skin abnormality, Anterior beaking of lumbar vertebrae, Acrocyanosis, Hypothyr... |
ORPHA:349 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Respiratory distress, Dyspnea, Pulmonary edema |
OMIM:115197 |
Buerger Disease |
|
Acrocyanosis |
ORPHA:36258 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Sparse eye... |
OMIM:614748 |
Meckel Syndrome, Type 8 |
|
Ambiguous genitalia, Abdominal distention, Low-set ears, Polycystic kidney dysplasia |
OMIM:613885 |
Hallermann-Streiff Syndrome |
|
Hyperlordosis, Pectus excavatum, Metaphyseal widening, Thin ribs, Slender long bone, Abnormal rib... |
OMIM:234100 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Low-set, posteriorly rotated ears, Hypoplasia of penis, Hypospadias, Adrenal hypoplasia, Cryptorc... |
ORPHA:2166 |
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Respiratory distress, Telecanthus, Enlargement of the ankles, Short stature, Nasogastric tube fee... |
ORPHA:99646 |
Leprechaunism |
|
Reduced subcutaneous adipose tissue, Enlarged ovaries, Overgrowth of external genitalia, Postnata... |
ORPHA:508 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Respiratory distress, Respiratory insufficiency, Decreased liver function, Hepatic failure, Gener... |
ORPHA:367 |
Heterotaxy, Visceral, 1, X-Linked |
|
Respiratory distress, Bilateral trilobed lung, Congenital hip dislocation, Block vertebrae, Cyano... |
OMIM:306955 |
Monosomy 9P |
|
Proximal placement of thumb, Short neck, Abnormality of the tarsal bones, Postaxial hand polydact... |
ORPHA:261112 |
Inhalational Anthrax |
|
Respiratory distress, Dyspnea, Vomiting, Abnormal sweat gland morphology |
ORPHA:247257 |
Stüve-Wiedemann Syndrome |
|
Respiratory distress, Apnea, Camptodactyly of finger, Short stature, Feeding difficulties in infa... |
ORPHA:3206 |
Gitelman Syndrome |
|
Neoplasm of the pancreas, Respiratory distress, Nausea and vomiting, Maternal diabetes, Abdominal... |
ORPHA:358 |
Coffin-Lowry Syndrome |
|
Hyperextensibility of the finger joints, Short metacarpal, Bifid sternum, Delayed closure of the ... |
OMIM:303600 |
Schimke Immuno-Osseous Dysplasia |
|
Lumbar hyperlordosis, Short stature, Ovoid vertebral bodies, Abnormality of thyroid physiology, A... |
ORPHA:1830 |
Sotos Syndrome |
|
Chronic otitis media, Small cell lung carcinoma, Acute lymphoblastic leukemia, Pulmonary bleb |
ORPHA:821 |
Nephrotic Syndrome, Type 1 |
|
Neonatal respiratory distress, Abdominal distention, Growth delay, Gastroesophageal reflux, Hypot... |
OMIM:256300 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Respiratory distress, Acute hepatic failure, Short stature, Reye syndrome-like episodes, Jaundice... |
OMIM:256810 |
Ethylmalonic Encephalopathy |
|
Diarrhea, Acrocyanosis, Petechiae |
ORPHA:51188 |
Nthl1-Related Attenuated Familial Adenomatous Polyposis |
|
Endometrial carcinoma, Pancreatic adenocarcinoma, Ovarian cyst |
ORPHA:454840 |
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome |
|
Fused labia minora, Ambiguous genitalia, female, Primary amenorrhea, Abnormality of the uterus, A... |
ORPHA:2975 |
Oculogastrointestinal Muscular Dystrophy |
|
Intestinal pseudo-obstruction, Gastroparesis, Abdominal distention, Ptosis |
ORPHA:1876 |
Orofaciodigital Syndrome Xiv |
|
Telecanthus, Posteriorly rotated ears, Epispadias, Cryptorchidism, Aplasia of the epiglottis, Ups... |
OMIM:615948 |
Alpha-Mannosidosis, Infantile Form |
|
Thickened ribs, Craniosynostosis, Short neck, Pectus excavatum, Genu valgum, Pectus carinatum, Co... |
ORPHA:309282 |
Early Infantile Epileptic Encephalopathy |
|
Precocious puberty, Micropenis |
ORPHA:1934 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Neonatal respiratory distress, Psoriasiform dermatitis, Abnormal T cell subset distribution, Arth... |
ORPHA:221139 |
Hyperthyroidism, Nonautoimmune |
|
Decreased thyroid-stimulating hormone level, Hyperthyroidism, Increased circulating free T3, Thyr... |
OMIM:609152 |
Mitochondrial Phosphate Carrier Deficiency |
|
Cyanosis, Respiratory insufficiency |
OMIM:610773 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Diarrhea, Activating thyroid-stimulating hor... |
ORPHA:424 |
Diamond-Blackfan Anemia 10 |
|
Respiratory distress, Posteriorly rotated ears, Short stature, Growth delay, Microtia, Atresia of... |
OMIM:613309 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Respiratory distress, Vomiting |
OMIM:251000 |
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Epicanthus, Posteriorly rotated ears, Conductive hearing impairment, Synophrys, Sensorineural hea... |
ORPHA:466943 |
Isolated Right Ventricular Hypoplasia |
|
Hypoxemia, Dyspnea, Cyanosis |
ORPHA:439 |
Cleft Larynx, Posterior |
|
Aspiration, Cyanosis |
OMIM:215800 |
Hypothyroidism, Congenital, Nongoitrous, 9 |
|
Inappropriately normal thyroid-stimulating hormone level, Short stature, Central hypothyroidism, ... |
OMIM:301035 |
Familial Gestational Hyperthyroidism |
|
Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Diarrhea, Activating thyroid-stimulating hor... |
ORPHA:99819 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Hyperthyroidism, Goiter |
OMIM:188580 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Short stature, 4-5 metacarpal synostosis, Hip dislocation, Aplasia of the epiglottis, Protruding ... |
OMIM:268305 |
Letterer-Siwe Disease |
|
Stomatitis, Abdominal distention, Dyspnea, Pulmonary infiltrates |
OMIM:246400 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Respiratory distress, Absent eyebrow, Absent nipple, Sparse eyelashes, Aplasia/Hypoplastia of the... |
OMIM:305100 |
Rodrigues Blindness |
|
Ectodermal dysplasia, Nasal flaring, Short stature, Protruding ear |
OMIM:268320 |
Pmm2-Cdg |
|
Respiratory distress, Epicanthus, Hypogonadotropic hypogonadism, Abnormal pinna morphology, Eleva... |
ORPHA:79318 |
Plague |
|
Respiratory distress, Anorexia, Abdominal pain, Hematemesis, Diarrhea, Abnormality of the elbow, ... |
ORPHA:707 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Respiratory distress, Neonatal insulin-dependent diabetes mellitus, Exocrine pancreatic insuffici... |
ORPHA:2255 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Nail bed telangiectasia,... |
OMIM:600376 |
Fetal Akinesia Deformation Sequence 1 |
|
Hip contracture, Camptodactyly of finger, Rocker bottom foot, Short neck, Thin ribs, Slender long... |
OMIM:208150 |
Oromandibular Dystonia |
|
Blepharospasm, Respiratory distress, Dysphagia |
ORPHA:93958 |
Classical Ehlers-Danlos Syndrome |
|
Osteoarthritis, Shoulder dislocation, Vomiting, Gastroesophageal reflux, Ecchymosis, Acrocyanosis... |
ORPHA:287 |
Liver Failure, Infantile, Transient |
|
Acute hepatic failure, Death in infancy, Feeding difficulties in infancy, Abdominal distention, V... |
OMIM:613070 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Absent eyebrow, Abdominal distention, Bloody diarrhea, Hypoplasia of the thymus, Congenital pulmo... |
ORPHA:436252 |
Pfeiffer Syndrome |
|
Bronchomalacia, Tracheal cartilaginous sleeve, Humeroradial synostosis, Shallow orbits, Coronal c... |
OMIM:101600 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Subglottic stenosis, Lumbar hyperlordosis, Rhizomelia, Kyphoscoliosis, Congenital hypothyroidism,... |
OMIM:271510 |
Oculopharyngodistal Myopathy 1 |
|
Respiratory distress, Hypercapnia, Reduced forced vital capacity, Bilateral ptosis, Sensorineural... |
OMIM:164310 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Apnea, Decreased response to growth hormone stimulation test, Synophrys, Multiple joint dislocati... |
OMIM:619503 |
Generalized Arterial Calcification Of Infancy |
|
Respiratory distress, Stapes ankylosis, Mixed hearing impairment, Calcification of the auricular ... |
ORPHA:51608 |
Congenital Fiber-Type Disproportion Myopathy |
|
Recurrent respiratory infections, Hypercapnia, Respiratory insufficiency due to muscle weakness, ... |
ORPHA:2020 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Hematochezia, Abdominal distention, Diarrhea |
ORPHA:103910 |
Pfeiffer Syndrome Type 2 |
|
Tracheomalacia, Atresia of the external auditory canal, Low-set ears, Respiratory distress |
ORPHA:93259 |
Mucopolysaccharidosis Type 3 |
|
Abnormal clavicle morphology, Avascular necrosis of the capital femoral epiphysis, Abnormal rib m... |
ORPHA:581 |
Igg4-Related Kidney Disease |
|
Pericarditis, Inflammatory abnormality of the skin, Eosinophilia, Lymphadenitis, Abnormal lung mo... |
ORPHA:449395 |
Fryns Syndrome |
|
Rocker bottom foot, Proximal placement of thumb, Short neck, Short thumb, Thin ribs, Stillbirth, ... |
OMIM:229850 |
Liver Disease, Severe Congenital |
|
Chronic gastritis, Biliary hyperplasia, Vomiting, Cough, Pancreatic hypoplasia, Hypospadias, Abno... |
OMIM:619991 |
Aicardi-Goutières Syndrome |
|
Diabetes mellitus, Cutis marmorata, Short stature, Arthritis, Eyelid coloboma, Prolonged neonatal... |
ORPHA:51 |
Shwachman-Diamond Syndrome 2 |
|
Subglottic stenosis, Death in infancy, Short stature, Exocrine pancreatic insufficiency, Diarrhea... |
OMIM:617941 |
Heterotaxy, Visceral, 7, Autosomal |
|
Pulmonary artery atresia, Pulmonary artery hypoplasia, Cyanosis, Total anomalous pulmonary venous... |
OMIM:616749 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Respiratory distress, Pulmonary embolism, Jaundice, Feeding difficulties, Growth delay, Low-set e... |
ORPHA:79282 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Splenomegaly, Thrombocytopenia, Aspiration pneumonia, Seborrheic dermatitis |
OMIM:301072 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... |
ORPHA:95494 |
Aortic Arch Interruption |
|
Respiratory distress, Cyanosis, Feeding difficulties in infancy, Tachypnea, Aortopulmonary window... |
ORPHA:2299 |
Niemann-Pick Disease Type C |
|
Bone-marrow foam cells, Splenomegaly, Abnormal lung morphology, Respiratory insufficiency, Hepato... |
ORPHA:646 |
Congenital Tufting Enteropathy |
|
Abdominal distention, Chronic diarrhea, Secretory diarrhea, Arthritis, Vomiting, Steatorrhea |
ORPHA:92050 |
Leptospirosis |
|
Respiratory distress, Nausea and vomiting, Anorexia, Abdominal pain, Jaundice, Diarrhea, Pulmonar... |
ORPHA:509 |
Necrotizing Enterocolitis |
|
Apnea, Abdominal distention, Diarrhea, Peritonitis, Bloody diarrhea, Vomiting |
ORPHA:391673 |
Pfeiffer Syndrome Type 3 |
|
Tracheomalacia, Respiratory distress, Low-set ears, Hearing impairment |
ORPHA:93260 |
Trisomy 18 |
|
Camptodactyly of finger, Postaxial hand polydactyly, Abnormal rib morphology, Deviation of finger... |
ORPHA:3380 |
Eosinophilic Fasciitis |
|
Arthritis, Acrocyanosis |
ORPHA:3165 |
Hereditary Acrokeratotic Poikiloderma |
|
Finger syndactyly, Camptodactyly of finger, Abnormal rib morphology, Abnormal hip bone morphology... |
ORPHA:2907 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Respiratory failure requiring assisted ventilation, Bronchomalacia, Abdominal distention, Sensori... |
OMIM:619351 |
Chylomicron Retention Disease |
|
Abdominal distention, Diarrhea, Growth delay, Vomiting, Steatorrhea |
ORPHA:71 |
Glucose-Galactose Malabsorption |
|
Abdominal distention, Diarrhea, Hyperactive bowel sounds, Malnutrition, Vomiting |
ORPHA:35710 |
Spinal muscular atrophy, type I, with congenital bone fractures |
|
Respiratory distress, Congenital hip dislocation |
OMIM:271225 |
Cardiac Valvular Dysplasia 2 |
|
Central cyanosis, Pulmonary artery dilatation |
OMIM:620067 |
Malakoplakia |
|
Abdominal pain, Orchitis, Abnormality of the menstrual cycle, Diarrhea, Prostate neoplasm, Cough |
ORPHA:556 |
Loeys-Dietz Syndrome 6 |
|
Hip osteoarthritis, Knee osteoarthritis, Scoliosis, Intervertebral disc degeneration |
OMIM:619656 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Recurrent respiratory infections, Apnea, Tachypnea, Recurrent aspiration pneumonia, Chronic lung ... |
ORPHA:397715 |
Eisenmenger Syndrome |
|
Respiratory distress, Cyanosis, Increased pulmonary vascular resistance, Abdominal distention, Wh... |
ORPHA:97214 |
Alagille Syndrome 1 |
|
Hypoplasia of the ulna, Abnormal rib morphology, Hemivertebrae, Butterfly vertebral arch, Short d... |
OMIM:118450 |
Hereditary Fructose Intolerance |
|
Abdominal pain, Abdominal distention, Diarrhea, Growth delay, Constipation, Vomiting, Chronic hep... |
ORPHA:469 |
Inflammatory Pseudotumor Of The Liver |
|
Abdominal distention, Vomiting, Nausea, Abdominal pain |
ORPHA:90003 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Pulmonary arteriovenous ... |
OMIM:610655 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve... |
ORPHA:99125 |
Criss-Cross Heart |
|
Cyanosis, Respiratory insufficiency, Feeding difficulties |
ORPHA:1461 |
Autosomal Recessive Malignant Osteopetrosis |
|
Bowing of the long bones, Craniosynostosis, Abnormal rib morphology, Narrow chest, Abnormal epiph... |
ORPHA:667 |
Acquired Purpura Fulminans |
|
Hepatic failure, Acrocyanosis, Macular purpura |
ORPHA:49566 |
Limb-Mammary Syndrome |
|
Absent lacrimal punctum, Absent nipple, Chronic irritative conjunctivitis, Sparse eyebrow, Lacrim... |
ORPHA:69085 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Respiratory distress, Death in infancy, Abdominal distention, Jaundice, Intrauterine growth retar... |
OMIM:617156 |
Neuroleptic Malignant Syndrome |
|
Pulmonary embolism, Leukocytosis, Aspiration pneumonia, Thrombocytosis, Thrombocytopenia |
ORPHA:94093 |
Cranioectodermal Dysplasia 2 |
|
Syndactyly, Craniosynostosis, Short neck, Pectus excavatum, Postaxial hand polydactyly, Polydacty... |
OMIM:613610 |
Cornelia De Lange Syndrome 1 |
|
Thrombocytopenia, Pneumonia, Otitis media |
OMIM:122470 |
Chronic Graft Versus Host Disease |
|
Fasciitis, Pancytopenia, Dyspnea, Wheezing, Pneumothorax, Urinary bladder inflammation, Bronchiec... |
ORPHA:99921 |
Isolated Arrhinia |
|
Respiratory distress, Eyelid coloboma, Microtia, Absent nasal septal cartilage |
ORPHA:1134 |
Anterior Cutaneous Nerve Entrapment Syndrome |
|
Anorexia, Abdominal pain, Abdominal distention, Recurrent infection of the gastrointestinal tract... |
ORPHA:51890 |
Methylmalonic Aciduria, Cblb Type |
|
Respiratory distress, Feeding difficulties in infancy, Vomiting |
OMIM:251110 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Hypoplasia of penis, Epicanthus, Urethrovaginal fistula, Cryptorchidism, Abdominal distention, Ut... |
ORPHA:93271 |
Kindler Epidermolysis Bullosa |
|
Laryngeal stenosis, Camptodactyly of finger, Phimosis, Erythema, Inflammation of the large intest... |
ORPHA:2908 |
Lysosomal Acid Lipase Deficiency |
|
Nausea and vomiting, Fatal liver failure in infancy, Adrenal calcification, Abdominal pain, Abdom... |
ORPHA:275761 |
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition |
|
Posteriorly rotated ears, Cervix cancer, Multinodular goiter, Multiple enchondromatosis |
OMIM:620189 |
Biotinidase Deficiency |
|
Respiratory distress, Apnea, Hyperventilation, Sensorineural hearing impairment, Conjunctivitis, ... |
ORPHA:79241 |
Interstitial Cystitis |
|
Dyspareunia, Abnormal vagina morphology, Abnormal labia morphology, Abnormality of the menstrual ... |
ORPHA:37202 |
Osteopetrosis, Autosomal Recessive 7 |
|
Multiple rib fractures, Femur fracture |
OMIM:612301 |
Congenital Pulmonary Valvar Stenosis |
|
Laryngeal stenosis |
ORPHA:3189 |
Neurooculorenal Syndrome |
|
Subglottic stenosis, Ectopic posterior pituitary, Mixed hearing impairment, Decreased circulating... |
OMIM:620305 |
Cleidocranial Dysplasia 1 |
|
Respiratory distress, Persistent open anterior fontanelle, Neonatal respiratory distress, Short s... |
OMIM:119600 |
Methylmalonic Aciduria, Cbla Type |
|
Respiratory distress, Feeding difficulties in infancy, Vomiting |
OMIM:251100 |
Developmental And Epileptic Encephalopathy 68 |
|
Respiratory distress |
OMIM:618201 |
Acrofacial Dysostosis 1, Nager Type |
|
Subglottic stenosis, Sparse lower eyelashes, Posteriorly rotated ears, Short stature, Limited elb... |
OMIM:154400 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Abdominal pain, Abdominal distention, Diarrhea, Growth delay, Keratoconjunctivitis sicca, Colitis... |
ORPHA:309031 |
Mowat-Wilson Syndrome |
|
Bifid scrotum, Hypospadias, Pulmonary artery sling, Supernumerary nipple, Uplifted earlobe, Short... |
OMIM:235730 |
Visceral Myopathy 1 |
|
Intestinal pseudo-obstruction, Gastroparesis, Abdominal pain, Abdominal distention, Diarrhea, Mal... |
OMIM:155310 |
Colchicine Poisoning |
|
Respiratory distress, Diarrhea, Cardiorespiratory arrest, Vomiting, Nausea |
ORPHA:31824 |
Acute Intermittent Porphyria |
|
Nausea and vomiting, Abdominal pain, Abdominal distention, Diarrhea, Ileus, Respiratory insuffici... |
ORPHA:79276 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Aspiration pneumonia |
ORPHA:99027 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Anterior pituitary hypoplasia, Protruding ear, Knee dislocation, Gastroesophageal reflux, Neonata... |
OMIM:619534 |
Marshall-Smith Syndrome |
|
Apnea, Recurrent upper respiratory tract infections, Stridor, Aspiration pneumonia, Pulmonary art... |
OMIM:602535 |
Pagod Syndrome |
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Abnormal clavicle morphology, Abnormal rib morphology |
ORPHA:991 |
Miller-Dieker Lissencephaly Syndrome |
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Recurrent aspiration pneumonia |
OMIM:247200 |
Mandibuloacral Dysplasia Progeroid Syndrome |
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Sandal gap, Delayed cranial suture closure, Decreased fibular diameter, Pectus excavatum, Osteoly... |
OMIM:619127 |
Multiple Endocrine Neoplasia, Type Iia |
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Hyperparathyroidism, Thyroid C cell hyperplasia, Increased circulating cortisol level, Pheochromo... |
OMIM:171400 |
Townes-Brocks Syndrome |
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Broad hallux phalanx, Toe syndactyly, Preaxial hand polydactyly, Partial duplication of thumb pha... |
ORPHA:857 |
Pachyonychia Congenita |
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Respiratory distress, Feeding difficulties |
ORPHA:2309 |
Mucopolysaccharidosis Type 2, Severe Form |
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Thickened ribs, Camptodactyly of finger, Spinal canal stenosis, Arthritis, Hip dysplasia, Diaphys... |
ORPHA:217085 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
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Neonatal death, Abdominal distention |
OMIM:619362 |
Mucopolysaccharidosis Type 2, Attenuated Form |
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Thickened ribs, Camptodactyly of finger, Spinal canal stenosis, Arthritis, Hip dysplasia, Diaphys... |
ORPHA:217093 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
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Subglottic stenosis, Posteriorly rotated ears, Short stature, Partial anomalous pulmonary venous ... |
OMIM:619657 |
Frontometaphyseal Dysplasia |
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Subglottic stenosis, Limited elbow movement, Conductive hearing impairment, Spina bifida occulta,... |
ORPHA:1826 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
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Fulminant hepatic failure, Abdominal distention |
OMIM:618528 |
Degcags Syndrome |
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Pancytopenia, Pneumonia, Congenital hypoplastic anemia, Asthma, Hepatosplenomegaly, Anemia, Leuko... |
OMIM:619488 |
Fraser Syndrome 2 |
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Abdominal distention, Respiratory failure, Hypoplasia of the thymus, Atresia of the external audi... |
OMIM:617666 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
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Respiratory distress, Jaundice, Prolonged neonatal jaundice |
OMIM:274150 |
Loeys-Dietz Syndrome 3 |
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Protrusio acetabuli, Craniosynostosis, Eosinophilic infiltration of the esophagus, Osteoarthritis... |
OMIM:613795 |
Mitochondrial Dna-Associated Leigh Syndrome |
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Apnea, Dyspnea, Sensorineural hearing impairment, Episodic respiratory distress, Dysphagia, Hepat... |
ORPHA:255210 |
Coffin-Siris Syndrome |
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Recurrent upper respiratory tract infections, Aspiration pneumonia |
ORPHA:1465 |
Charge Syndrome |
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Abnormal tibia morphology, Abnormal rib morphology, Hemivertebrae, Bifid femur, Scoliosis, Clinod... |
ORPHA:138 |
Diarrhea 1, Secretory Chloride, Congenital |
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Abdominal distention, Secretory diarrhea, Growth delay, Hyperactive renin-angiotensin system, Hyp... |
OMIM:214700 |
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
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Prominent metopic ridge, Congenital hypothyroidism, Bilateral sensorineural hearing impairment, M... |
ORPHA:521445 |
Mirizzi Syndrome |
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Abdominal colic, Nausea, Abdominal pain, Anorexia, Abdominal distention, Jaundice, Cholesterol ga... |
ORPHA:521219 |
African Trypanosomiasis |
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Miscarriage, Abnormality of the menstrual cycle, Abnormality of the endocrine system, Jaundice, D... |
ORPHA:3385 |
Hereditary Spherocytosis |
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Abdominal pain, Abdominal distention, Jaundice, Gout, Growth delay, Cholelithiasis |
ORPHA:822 |
Kasabach-Merritt Syndrome |
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Respiratory distress, Abdominal pain, Abdominal distention, Hypopnea, Petechiae, Purpura |
ORPHA:2330 |
Igg4-Related Dacryoadenitis And Sialadenitis |
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Palpebral edema, Enlarged lacrimal glands, Thyroiditis, Xerostomia, Abnormality of the orbital re... |
ORPHA:79078 |
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies |
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Abdominal distention, Rectovaginal fistula, Secretory diarrhea, Low-set ears |
OMIM:270420 |
Fanconi-Bickel Syndrome |
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Growth delay, Abdominal distention, Diabetes mellitus, Hepatic failure |
ORPHA:2088 |
Familial Visceral Myopathy |
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Low-set, posteriorly rotated ears, Abdominal distention, Hyperparathyroidism, Camptodactyly of fi... |
ORPHA:2604 |
Restrictive Dermopathy |
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Thoracic kyphoscoliosis, Aplasia/Hypoplasia of the clavicles, Camptodactyly of finger, Thin clavi... |
ORPHA:1662 |
Wilson Disease |
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Hypoparathyroidism, Acute hepatic failure, Abdominal distention, Osteoarthritis, Jaundice, Vomiti... |
OMIM:277900 |
Castleman Disease |
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Nausea and vomiting, Intestinal obstruction, Abdominal pain, Dyspnea, Jaundice, Abdominal distent... |
ORPHA:160 |
Junctional Epidermolysis Bullosa With Pyloric Atresia |
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Nausea and vomiting, Abdominal distention, Pterygium, Ectropion |
ORPHA:79403 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
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Nausea and vomiting, Death in infancy, Multicystic kidney dysplasia, Hypoperistalsis, Cryptorchid... |
ORPHA:2241 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
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Pulmonary arterial hypertension, Recurrent aspiration pneumonia, Blepharitis, Peripheral pulmonar... |
ORPHA:280633 |
Carney Complex, Type 1 |
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Elevated circulating growth hormone concentration, Pituitary adenoma, Pheochromocytoma, Thyroid c... |
OMIM:160980 |
Alobar Holoprosencephaly |
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Central apnea, Chronic lung disease, Abnormal pattern of respiration, Aspiration pneumonia |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
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Central apnea, Chronic lung disease, Abnormal pattern of respiration, Aspiration pneumonia |
ORPHA:93926 |
Lobar Holoprosencephaly |
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Central apnea, Chronic lung disease, Abnormal pattern of respiration, Aspiration pneumonia |
ORPHA:93924 |
Semilobar Holoprosencephaly |
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Central apnea, Chronic lung disease, Abnormal pattern of respiration, Aspiration pneumonia |
ORPHA:220386 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
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Recurrent respiratory infections, Asthma, Pneumonia, Otitis media |
ORPHA:353281 |
Familial Adenomatous Polyposis |
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Pancreatic adenocarcinoma, Abnormality of the thyroid gland, Pituitary adenoma, Thyroiditis, Neop... |
ORPHA:733 |
Lafora Disease |
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Recurrent aspiration pneumonia |
ORPHA:501 |
Primary Biliary Cholangitis |
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Abnormality of the thyroid gland, Abdominal distention, Jaundice, Gastrointestinal inflammation, ... |
ORPHA:186 |
Fanconi-Bickel Syndrome |
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Postnatal growth retardation, Abdominal distention, Poor appetite |
OMIM:227810 |
Cirrhosis, Familial |
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Abdominal distention, Fulminant hepatitis, Pulmonary arterial hypertension |
OMIM:215600 |
Microvillus Inclusion Disease |
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Abdominal distention, Diarrhea |
ORPHA:2290 |
Wiedemann-Rautenstrauch Syndrome |
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Long toe, Short humerus, Short femur, Delayed closure of the anterior fontanelle, Short neck, Hyp... |
OMIM:264090 |
Gallbladder Neuroendocrine Tumor |
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Anorexia, Abdominal distention, Episodic abdominal pain, Intermittent jaundice, Neuroendocrine ne... |
ORPHA:100086 |
Charge Syndrome |
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Hypoplasia of the ulna, Down-sloping shoulders, Absent radius, Short thumb, Radial head subluxati... |
OMIM:214800 |
Phace Association |
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Horner syndrome, Lingual thyroid, Congenital hypothyroidism |
OMIM:606519 |
Cardiac Valvular Dysplasia 1 |
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Pulmonary artery atresia, Cyanosis |
OMIM:212093 |
Pancreatoblastoma |
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Abdominal distention, Diarrhea, Vomiting, Abdominal pain |
ORPHA:677 |
Phace Syndrome |
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Hypothyroidism, Abnormality of the orbital region, Ectopic thyroid, Ptosis |
ORPHA:42775 |
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
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Conjunctival telangiectasia, Multinodular goiter |
OMIM:618373 |
Currarino Syndrome |
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Hemisacrum, Septate vagina, Gastrointestinal obstruction, Abdominal distention, Bifid sacrum, Chr... |
OMIM:176450 |
Fontaine Progeroid Syndrome |
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Pneumothorax, Respiratory insufficiency, Pulmonary hypoplasia, Pulmonary arterial hypertension, R... |
OMIM:612289 |
Aneurysm-Osteoarthritis Syndrome |
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Osteoarthritis of the small joints of the hand, Protrusio acetabuli, Camptodactyly of finger, Cra... |
ORPHA:284984 |
Colonic Atresia |
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Abdominal distention |
ORPHA:1198 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
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Fasciitis, Osteomyelitis, Abscess, Septic arthritis, Recurrent aspiration pneumonia, Tooth absces... |
ORPHA:642 |
Cowden Syndrome 7 |
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Ductal carcinoma in situ, Papillary thyroid carcinoma, Hashimoto thyroiditis, Goiter |
OMIM:616858 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
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Recurrent respiratory infections, Pneumonia, Asthma, Otitis media, Aspiration |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
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Recurrent respiratory infections, Pneumonia, Asthma, Otitis media, Aspiration |
ORPHA:353277 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
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Lacrimal duct atresia, Thyroid C cell hyperplasia |
OMIM:300952 |
Metachromatic Leukodystrophy, Late Infantile Form |
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Feeding difficulties in infancy, Abdominal distention |
ORPHA:309256 |
Osteopetrosis With Renal Tubular Acidosis |
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Pectus excavatum, Prominent floating ribs |
ORPHA:2785 |
Metachromatic Leukodystrophy, Adult Form |
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Abdominal distention, Bilateral sensorineural hearing impairment, Bowel incontinence, Neoplasm of... |
ORPHA:309271 |
Epidermolysis Bullosa Simplex With Pyloric Atresia |
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Abdominal distention, Skin fragility with non-scarring blistering, Microtia, Vomiting, Fragile skin |
ORPHA:158684 |
Ulnar-Mammary Syndrome |
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Subglottic stenosis, Ectopic posterior pituitary, Small scrotum, Anterior pituitary hypoplasia, D... |
OMIM:181450 |
Congenitally Corrected Transposition Of The Great Arteries |
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Pulmonary artery atresia, Cyanosis |
ORPHA:216694 |
Metachromatic Leukodystrophy, Juvenile Form |
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Abdominal distention |
ORPHA:309263 |
Hyperoxaluria, Primary, Type I |
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Acrocyanosis, Cutis marmorata |
OMIM:259900 |
Primary Hyperoxaluria |
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Acrocyanosis, Cutis marmorata |
ORPHA:416 |
Glomuvenous Malformation |
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Generalized abnormality of skin, Abnormal tracheal morphology |
ORPHA:83454 |
Yunis-Varon Syndrome |
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Pulmonary arterial hypertension, Aspiration pneumonia |
OMIM:216340 |
Atresia Of Urethra |
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Abdominal distention |
ORPHA:105 |