Emphysema, Hereditary Pulmonary |
|
Chronic pulmonary obstruction, Chronic bronchitis, Emphysema |
OMIM:130700 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Vertebral segmentation defect, Rib fusion, Kyphosis, Supernumerary vertebral ossification centers... |
OMIM:609813 |
Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Vertebral segmentation defect, Rib fusion, Vertebral clefting, Hemivertebrae, Short neck |
OMIM:608681 |
Bare Lymphocyte Syndrome, Type I |
|
Chronic otitis media, Bronchiolitis, Recurrent bronchitis, Chronic sinusitis, Emphysema, Bronchie... |
OMIM:604571 |
Chondrocalcinosis Due To Apatite Crystal Deposition |
|
Intervertebral disk calcification, Osteoarthritis of the small joints of the hand, Costal cartila... |
OMIM:118610 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Reduced FEV1/FVC ratio, Chronic pulmonary obstruction, Chronic bronchitis, Hypoxemia, Nonproducti... |
ORPHA:79127 |
Idiopathic Bronchiectasis |
|
Reduced FEV1/FVC ratio, Crackles, Acute infectious pneumonia, Wheezing, Recurrent lower respirato... |
ORPHA:60033 |
Bronchopulmonary Dysplasia |
|
Respiratory distress, Pulmonary sequestration, Hyperoxemia, Abnormal respiratory system physiolog... |
ORPHA:70589 |
Mucus Inspissation Of Respiratory Tract |
|
Chronic pulmonary obstruction, Atelectasis, Chronic sinusitis, Bronchiectasis, Recurrent respirat... |
OMIM:253240 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral segmentation defect, Rib fusion, Hemivertebrae, Spina bifida occulta, Abnormal rib morp... |
OMIM:613686 |
Spondylocostal Dysostosis 5 |
|
Butterfly vertebrae, Hemivertebrae, Short neck, Posterior rib fusion, Scoliosis, Pectus carinatum... |
OMIM:122600 |
Congenital Lobar Emphysema |
|
Respiratory distress, Emphysema |
ORPHA:1928 |
Allergic Bronchopulmonary Aspergillosis |
|
Asthma, Abnormal eosinophil morphology, Respiratory insufficiency, Cough, Emphysema, Bronchiectas... |
ORPHA:1164 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Vertebral segmentation defect, Rib fusion, Kyphoscoliosis, Back pain, Hemivertebrae, Short neck, ... |
OMIM:277300 |
Cervical Rib |
|
Cervical ribs |
OMIM:117900 |
Pulmonary Blastoma |
|
Pulmonary infiltrates, Pleuropulmonary blastoma, Cough, Recurrent pneumonia, Dyspnea |
ORPHA:64741 |
Ciliary Dyskinesia, Primary, 21 |
|
Recurrent otitis media, Atelectasis, Ciliary dyskinesia, Chronic sinusitis, Recurrent pneumonia, ... |
OMIM:615294 |
Alpha-1-Antitrypsin Deficiency |
|
Panacinar emphysema, Chronic pulmonary obstruction, Chronic bronchitis, Splenomegaly, Wheezing, C... |
OMIM:613490 |
Pulmonary Nodular Lymphoid Hyperplasia |
|
Nodular pattern on pulmonary HRCT, Plasmacytosis, Ground-glass opacification, Cough, Dyspnea |
ORPHA:60026 |
Ciliary Dyskinesia, Primary, 20 |
|
Respiratory insufficiency due to defective ciliary clearance, Cough, Recurrent sinusitis, Atelect... |
OMIM:615067 |
Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
Sarcoidosis, Susceptibility To, 2 |
|
Bronchiectasis, Pulmonary infiltrates, Elevated bronchoalveolar lavage fluid lymphocyte proportio... |
OMIM:612387 |
Ciliary Dyskinesia, Primary, 29 |
|
Atelectasis, Ciliary dyskinesia, Bronchiectasis, Decreased nasal nitric oxide, Recurrent respirat... |
OMIM:615872 |
Ciliary Dyskinesia, Primary, 33 |
|
Cough, Chronic rhinitis, Recurrent lower respiratory tract infections, Atelectasis, Recurrent bro... |
OMIM:616726 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Clinodactyly of the 5th finger, Scoliosis, Pectus carinatum, Radioulnar synostosis, Abnormal rib ... |
ORPHA:3268 |
Poland Syndrome |
|
Sprengel anomaly, Rib fusion, Unilateral oligodactyly, Short ribs, Hemivertebrae, Unilateral brac... |
OMIM:173800 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Respiratory distress, Chronic otitis media, Abnormal mucociliary clearance, Atelectasis, Bronchie... |
OMIM:619466 |
Familial Nasal Acilia |
|
Respiratory distress, Recurrent upper respiratory tract infections, Chronic rhinitis, Abnormal re... |
ORPHA:922 |
Immunodeficiency 11 |
|
Recurrent respiratory infections, Pneumonia |
OMIM:615206 |
Tracheobronchopathia Osteochondroplastica |
|
Abnormal tracheobronchial morphology, Respiratory insufficiency, Wheezing, Calcification of carti... |
ORPHA:3348 |
Spondylometaphyseal Dysplasia, East African Type |
|
Coxa vara, Metaphyseal spurs, Metaphyseal widening, Brachydactyly, Genu varum, Bell-shaped thorax... |
OMIM:611702 |
Autosomal Dominant Spondylocostal Dysostosis |
|
Vertebral segmentation defect, Short neck, Posterior rib fusion, Scoliosis, Spina bifida occulta,... |
ORPHA:1797 |
Cutis Laxa, Neonatal, With Marfanoid Phenotype |
|
Emphysema |
OMIM:614100 |
Alpha-1-Antitrypsin Deficiency |
|
Hepatitis, Emphysema |
ORPHA:60 |
Cutis Laxa-Marfanoid Syndrome |
|
Emphysema |
ORPHA:171719 |
Epidermodysplasia Verruciformis, Susceptibility To, 4 |
|
Stomatitis, Emphysema |
OMIM:618307 |
Birt-Hogg-Dubé Syndrome |
|
Pneumothorax, Pulmonary sequestration, Emphysema |
ORPHA:122 |
Spondylometaphyseal Dysplasia, Type A4 |
|
Sclerotic humeral metaphysis, Metaphyseal irregularity, Irregular capital femoral epiphysis, Broa... |
OMIM:609052 |
Spondylometaphyseal Dysplasia, Corner Fracture Type |
|
Coxa vara, Metaphyseal irregularity, Scoliosis, Short femoral neck, Genu varum, Pectus carinatum,... |
OMIM:184255 |
Immunodeficiency 51 |
|
Chronic furunculosis, Chronic oral candidiasis, Folliculitis, Recurrent cutaneous fungal infectio... |
OMIM:613953 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness |
|
Atelectasis, Recurrent bronchitis, Chronic sinusitis, Otitis media |
OMIM:300455 |
Idiopathic Acute Eosinophilic Pneumonia |
|
Pulmonary infiltrates, Abnormal eosinophil morphology, Respiratory insufficiency, Abnormal pleura... |
ORPHA:724 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Apnea, Absent bronchoalveolar surfactant-protein C, Desquamative interstiti... |
OMIM:610921 |
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification |
|
Emphysema |
OMIM:210050 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Eczematoid dermatitis, Recurrent bronchopulmonary infections, Lymphopenia, Pyoderma, Aplasia of t... |
OMIM:242700 |
Becker Nevus Syndrome |
|
Rib fusion, Kyphosis, Pectus excavatum, Scoliosis, Abnormality of tibia morphology, Pectus carina... |
ORPHA:64755 |
Recurrent Respiratory Papillomatosis |
|
Respiratory distress, Tracheomalacia, Nonproductive cough, Respiratory insufficiency, Recurrent u... |
ORPHA:60032 |
Asbestos Intoxication |
|
Reduced vital capacity, Reduced forced vital capacity, Ground-glass opacification, Respiratory fa... |
ORPHA:2302 |
Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Reduced forced expiratory volume in one second, Bronchiectasis, Reduced FEV1/FVC ratio, Airway ob... |
ORPHA:1303 |
Endosteal Hyperostosis, Worth Type |
|
Clavicular sclerosis, Abnormal form of the vertebral bodies, Abnormal rib morphology, Sclerotic v... |
ORPHA:2790 |
Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Pulmonary edema, Tachypnea, Atelectasis, Neonatal respiratory distress, Dys... |
OMIM:267450 |
Sprengel Deformity |
|
Sprengel anomaly, Hemivertebrae, Scoliosis, Spina bifida occulta, Cervical segmentation defect, R... |
OMIM:184400 |
Heart Defects-Limb Shortening Syndrome |
|
Narrow chest, Kyphosis, Abnormal form of the vertebral bodies, Abnormal rib morphology, Abnormal ... |
ORPHA:1354 |
Spondylometaphyseal Dysplasia, A4 Type |
|
Coxa vara, Short palm, Platyspondyly, Flared, irregular rib ends |
ORPHA:168555 |
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Abnormal rib morphology |
ORPHA:2435 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Asthma, Leukocytosis, Nonproductive cough, Atopic dermatitis, Crackles, Parenchymal consolidation... |
ORPHA:2902 |
Immunodeficiency 95 |
|
Respiratory distress, Lymphopenia, Ground-glass opacification, Recurrent viral upper respiratory ... |
OMIM:619773 |
Mounier-Kühn Syndrome |
|
Recurrent bronchopulmonary infections, Tracheobronchmegaly, Bronchitis, Tracheal stenosis, Pneumo... |
ORPHA:3347 |
Acute Interstitial Pneumonia |
|
Interlobular septal thickening, Pulmonary infiltrates, Subpleural honeycombing, Nodular pattern o... |
ORPHA:79126 |
Thoracolaryngopelvic Dysplasia |
|
Irregular vertebral endplates, Irregular chondrocostal junctions, Short ribs, Metaphyseal widenin... |
OMIM:187760 |
Kyphomelic Dysplasia |
|
Narrow chest, Undulate ribs, Anterior rib cupping, Abnormal form of the vertebral bodies, Short t... |
ORPHA:1801 |
Meconium Aspiration Syndrome |
|
Respiratory distress, Hypoxemia, Aspiration pneumonia, Wheezing, Atelectasis, Abnormal pulmonary ... |
ORPHA:70588 |
Autosomal Dominant Brachyolmia |
|
Kyphoscoliosis, Increased vertebral height, Platyspondyly, Short thorax, Abnormal metaphysis morp... |
ORPHA:93304 |
Femoral-Facial Syndrome |
|
Sprengel anomaly, Rib fusion, Coxa vara, Vertebral segmentation defect, Aplasia/Hypoplasia of the... |
ORPHA:1988 |
Ciliary Dyskinesia, Primary, 42 |
|
Chronic pulmonary obstruction, Respiratory insufficiency, Reduced forced vital capacity, Chronic ... |
OMIM:618695 |
Mesomelic Dysplasia, Kantaputra Type |
|
Vertebral segmentation defect, Clinodactyly of the 5th finger, Camptodactyly of finger, Abnormali... |
ORPHA:1836 |
Idiopathic Pulmonary Fibrosis |
|
Crackles, Reticular pattern on pulmonary HRCT, Abnormal pulmonary interstitial morphology, Cough,... |
ORPHA:2032 |
Hypophosphatasia |
|
Anemia, Respiratory insufficiency, Emphysema |
ORPHA:436 |
Interstitial Lung Disease 1 |
|
Interlobular septal thickening, Crackles, Decreased DLCO, Cough, Ground-glass opacification, Elev... |
OMIM:619611 |
Ciliary Dyskinesia, Primary, 9 |
|
Recurrent otitis media, Chronic otitis media, Cough, Chronic rhinitis, Recurrent sinusitis, Chron... |
OMIM:612444 |
Idiopathic Achalasia |
|
Wheezing, Bronchitis, Recurrent aspiration pneumonia, Cough |
ORPHA:930 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Abnormality of the cervical spine, Superior rib anomalies |
OMIM:307500 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Tracheal atresia, Respiratory insufficiency, Bilateral lung agenesis, Neonatal death |
OMIM:601612 |
Jung Syndrome |
|
Abnormal form of the vertebral bodies, Hypothyroidism, Telecanthus, Tracheal stenosis, Recurrent ... |
ORPHA:2321 |
Infant Acute Respiratory Distress Syndrome |
|
Pulmonary edema, Tachypnea, Atelectasis, Respiratory tract infection, Pneumonia, Hypoxemia, Respi... |
ORPHA:70587 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
Abnormally low T cell receptor excision circle level, Atopic dermatitis, Recurrent upper respirat... |
OMIM:618806 |
Fanconi Renotubular Syndrome 5 |
|
Lung adenocarcinoma, Pulmonary fibrosis, Emphysema, Decreased DLCO |
OMIM:618913 |
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Narrow chest, Acetabular spurs, Short ribs, Trident acetabulum, Brachydactyly, Postaxial hand pol... |
OMIM:617405 |
Metatropic Dysplasia |
|
Enlarged joints, Halberd-shaped pelvis, Cone-shaped epiphysis, Platyspondyly, Hyperplasia of the ... |
OMIM:156530 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Respiratory distress, Oxygen desaturation on exertion, Asthma, Pulmonary infiltrates, Hypoxemia, ... |
OMIM:610978 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Vertebral segmentation defect, Rib fusion, Kyphosis, Camptodactyly of finger, Short neck, Scolios... |
ORPHA:2311 |
Thanatophoric Dysplasia, Type Ii |
|
Narrow chest, Wide-cupped costochondral junctions, Small abnormally formed scapulae, Metaphyseal ... |
OMIM:187601 |
Ciliary Dyskinesia, Primary, 1 |
|
Nasal polyposis, Chronic otitis media, Chronic rhinitis, Atelectasis, Recurrent bronchitis, Cilia... |
OMIM:244400 |
Pulmonary Hemosiderosis |
|
Recurrent intrapulmonary hemorrhage, Respiratory insufficiency, Iron deficiency anemia, Transient... |
OMIM:178550 |
Metatropic Dysplasia |
|
Narrow chest, Kyphosis, Halberd-shaped pelvis, Clinodactyly of the 5th finger, Camptodactyly of f... |
ORPHA:2635 |
Immunodeficiency 13 |
|
Bronchiolitis obliterans organizing pneumonia, Lymphopenia, Recurrent upper respiratory tract inf... |
OMIM:615518 |
Combined Immunodeficiency, X-Linked |
|
Sinusitis, Otitis media, Decreased proportion of CD8-positive T cells, Recurrent bronchitis, Decr... |
OMIM:312863 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Asthma, Atopic dermatitis, Eosinophilia, Pneumonia |
OMIM:617638 |
Immunodeficiency 89 And Autoimmunity |
|
Asthma, Crohn's disease, Pleural thickening, Hypochromic microcytic anemia, Recurrent lower respi... |
OMIM:619632 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type |
|
Irregular vertebral endplates, Lumbar hyperlordosis, Flat capital femoral epiphysis, Platyspondyl... |
OMIM:609223 |
Acromesomelic Dysplasia, Maroteaux Type |
|
Sprengel anomaly, Kyphosis, Beaking of vertebral bodies, Brachydactyly, Scoliosis, Abnormal form ... |
ORPHA:40 |
Brachytelephalangic Chondrodysplasia Punctata |
|
C1-C2 subluxation, Proportionate short stature, Cervical vertebral dysplasia, Feeding difficultie... |
ORPHA:79345 |
Bronchogenic Cyst |
|
Abnormal pleura morphology, Cough, Atelectasis, Abnormal pulmonary thoracic imaging finding, Pneu... |
ORPHA:2357 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Irregular vertebral endplates, Beaking of vertebral bodies, Cone-shaped epiphyses of the phalange... |
OMIM:609616 |
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 |
Tracheal Agenesis |
|
Tracheal atresia, Respiratory insufficiency, Aplasia/Hypoplasia of the lungs |
ORPHA:3346 |
Acropectorovertebral Dysplasia |
|
Finger syndactyly, Radial deviation of the 2nd finger, Synostosis of carpal bones, Spina bifida o... |
OMIM:102510 |
Primary Ciliary Dyskinesia |
|
Airway obstruction, Anomalous pulmonary venous return, Recurrent otitis media, Chronic otitis med... |
ORPHA:244 |
Immunodeficiency 104 |
|
Otitis media, Splenomegaly, Eczema, T lymphocytopenia, Chronic mucocutaneous candidiasis, Pneumon... |
OMIM:608971 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Coxa vara, Metaphyseal dysplasia, Lumbar hyperlordosis, Hypoplastic sacrum, Osteoarthritis, Platy... |
OMIM:271650 |
Ciliary Dyskinesia, Primary, 11 |
|
Chronic bronchitis, Abnormal central microtubular pair morphology of respiratory motile cilia, Ch... |
OMIM:612649 |
Ciliary Dyskinesia, Primary, 28 |
|
Dynein arm defect of respiratory motile cilia, Recurrent otitis media, Respiratory insufficiency ... |
OMIM:615505 |
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency |
|
Pectus excavatum, Abnormal rib cage morphology, Hemivertebrae, Posterior rib fusion, Preaxial han... |
OMIM:608406 |
Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Diffuse reticular or finely nodular infiltrations, Splenomegaly, Abnormal... |
OMIM:607616 |
Brachyolmia, Maroteaux Type |
|
Pectus excavatum, Platyspondyly, Scoliosis, Abnormal form of the vertebral bodies, Short thorax |
ORPHA:93302 |
Muscular Hypertonia, Lethal |
|
Respiratory distress, Pneumonia |
OMIM:254120 |
Surfactant Metabolism Dysfunction, Pulmonary, 5 |
|
Interlobular septal thickening, Respiratory insufficiency, Intraalveolar phospholipid accumulatio... |
OMIM:614370 |
Ciliary Dyskinesia, Primary, 44 |
|
Reduced forced expiratory volume in one second, Otitis media, Reduced forced vital capacity, Recu... |
OMIM:618781 |
Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Aspiration pneumonia |
OMIM:619477 |
Common Variable Immunodeficiency |
|
Lymphopenia, Otitis media, Splenomegaly, Autoimmune thrombocytopenia, Chronic otitis media, Hemol... |
ORPHA:1572 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Femoral bowing, Platyspondyly, Short long bone, Metaphyseal irregularity, Metaphyseal cupping of ... |
ORPHA:174 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Lymphopenia, Plasmacytosis, Pneumonia, Glomerulonephritis, Autoimmune hemolytic anemia |
OMIM:247800 |
Pendred Syndrome |
|
Sensorineural hearing impairment, Thyroid carcinoma, Goiter, Respiratory insufficiency, Enlarged ... |
ORPHA:705 |
Young Syndrome |
|
Bronchiectasis, Recurrent bronchitis, Congenital pulmonary airway malformation, Recurrent sinopul... |
OMIM:279000 |
Immunodeficiency 32B |
|
Sinusitis, Splenomegaly, Pneumonia, Bronchiectasis, Recurrent respiratory infections |
OMIM:226990 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Bowing of the legs, Pectus excavatum, Metaphyseal spurs, Dysplastic iliac wing, Short long bone, ... |
OMIM:608728 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Bronchiolitis, Exertional dyspnea, Atelectasis, Pulmonary fibrosis |
ORPHA:254361 |
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Pulmonary infiltrates, Interstitial pneumonitis, Intraalveolar phospholipid accumulation, Chronic... |
ORPHA:217563 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Sensorineural hearing impairment, Precocious puberty, Aplasia/Hypoplasia of the eyebrow, Scoliosi... |
ORPHA:2637 |
Histiocytosis, Familial Lipochrome |
|
Pulmonary infiltrates, Polyarticular arthritis |
OMIM:235900 |
Spondyloepiphyseal Dysplasia Tarda, Kohn Type |
|
Platyspondyly, Abnormality of the ankles, Abnormal ilium morphology, Abnormal vertebral morpholog... |
ORPHA:163665 |
Granulomatosis With Polyangiitis |
|
Sinusitis, Pulmonary infiltrates, Conjunctivitis, Respiratory insufficiency, Hemosiderin-laden ma... |
OMIM:608710 |
Hypocomplementemic Urticarial Vasculitis |
|
Airway obstruction, Skin rash, Splenomegaly, Cough, Arthritis, Uveitis, Restrictive ventilatory d... |
ORPHA:36412 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Coxa vara, Abnormal joint morphology, Osteoarthritis, Platyspondyly, Synostosis of carpal bones, ... |
ORPHA:93351 |
Becker Nevus Syndrome |
|
Hemivertebrae, Cervical ribs, Pectus excavatum, Scoliosis |
OMIM:604919 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
External genital hypoplasia, Central adrenal insufficiency, Primary amenorrhea, Clitoral hypoplas... |
ORPHA:98754 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Sensorineural hearing impairment, Kyphosis, Hyperinsulinemia, Type II diabetes mellitus, Short st... |
ORPHA:3085 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Irregular vertebral endplates, Metaphyseal irregularity, Dislocated radial head, Knee dislocation... |
OMIM:618395 |
Hypomandibular Faciocranial Dysostosis |
|
Abnormal tracheobronchial morphology, Craniosynostosis, Upslanted palpebral fissure, Abnormal mor... |
ORPHA:1790 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
External genital hypoplasia, Central adrenal insufficiency, Primary amenorrhea, Clitoral hypoplas... |
ORPHA:98793 |
Spondylometaphyseal Dysplasia, Axial |
|
Narrow chest, Coxa vara, Narrow greater sciatic notch, Platyspondyly, Anterior rib cupping, Short... |
OMIM:602271 |
Surfactant Metabolism Dysfunction, Pulmonary, 4 |
|
Reduced forced expiratory volume in one second, Intraalveolar phospholipid accumulation, Reduced ... |
OMIM:300770 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Chronic bronchitis, Pneumonia |
OMIM:614069 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
External genital hypoplasia, Central adrenal insufficiency, Primary amenorrhea, Clitoral hypoplas... |
ORPHA:177904 |
Sim1-Related Prader-Willi-Like Syndrome |
|
External genital hypoplasia, Primary amenorrhea, Clitoral hypoplasia, Hypogonadism, Small scrotum... |
ORPHA:398079 |
Sacral Agenesis With Vertebral Anomalies |
|
Abnormal vertebral morphology, Absence of the sacrum |
OMIM:615709 |
Osteogenesis Imperfecta, Type Ix |
|
Kyphosis, Pectus excavatum, Platyspondyly, Scoliosis, Wormian bones, Pectus carinatum, Short lowe... |
OMIM:259440 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
External genital hypoplasia, Central adrenal insufficiency, Primary amenorrhea, Clitoral hypoplas... |
ORPHA:177901 |
Congenital Tracheomalacia |
|
Apnea, Decreased peak expiratory flow, Pulmonary hypoplasia, Pneumonia, Tracheomalacia, Wheezing,... |
ORPHA:95430 |
Immunodeficiency 48 |
|
Eczematoid dermatitis, Splenomegaly, Pneumonia, Absence of CD8-positive T cells, Recurrent respir... |
OMIM:269840 |
Familial Hyperprolactinemia |
|
Amenorrhea, Infertility, Oligomenorrhea, Menorrhagia, Hemorrhagic ovarian cyst, Female hypogonadism |
ORPHA:397685 |
Keutel Syndrome |
|
Short stature, Tracheal atresia, Recurrent sinusitis, Calcification of cartilage, Hearing impairm... |
ORPHA:85202 |
Prader-Willi-Like Syndrome |
|
External genital hypoplasia, Central adrenal insufficiency, Primary amenorrhea, Clitoral hypoplas... |
ORPHA:398073 |
Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Squared-off platyspondyly, Abdominal distention, Severe short stature, Narrow vertebral interpedi... |
ORPHA:93352 |
Eosinophilia, Familial |
|
Pulmonary infiltrates, Leukocytosis, Eosinophilia, Recurrent bronchitis, Anemia, Thrombocytopenia |
OMIM:131400 |
Bardet-Biedl Syndrome 16 |
|
Respiratory distress, External genital hypoplasia, Bronchiolitis, Renal cyst, Hypogonadism, Heari... |
OMIM:615993 |
Chronic Beryllium Disease |
|
Reduced FEV1/FVC ratio, Lymphocytic interstitial pneumonia, Abnormal proportion of CD4-positive T... |
ORPHA:133 |
Ciliary Dyskinesia, Primary, 23 |
|
Recurrent otitis media, Respiratory insufficiency due to defective ciliary clearance, Chronic bro... |
OMIM:615451 |
Netherton Syndrome |
|
Asthma, Skin rash, Eczema, Emphysema, Erythroderma, Recurrent respiratory infections |
ORPHA:634 |
Prader-Willi Syndrome |
|
External genital hypoplasia, Central adrenal insufficiency, Primary amenorrhea, Vomiting, Clitora... |
ORPHA:739 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Metaphyseal irregularity, Coxa vara, Narrow greater sciatic notch, Club-shaped proximal femur, Pl... |
OMIM:184250 |
Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Dyspnea, Aspiration pneumonia, Upper airway obstruction |
ORPHA:141152 |
Ciliary Dyskinesia, Primary, 15 |
|
Recurrent otitis media, Chronic bronchitis, Abnormal axonemal organization of respiratory motile ... |
OMIM:613808 |
Hurler-Scheie Syndrome |
|
Kyphosis, Short stature, Contracture of the distal interphalangeal joint of the fingers, Camptoda... |
OMIM:607015 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Narrow chest, Metaphyseal cupping, Thin ribs, Short ribs, Disc-like vertebral bodies, Hypoplastic... |
OMIM:151210 |
Vacterl/Vater Association |
|
Vertebral segmentation defect, Hypoplasia of penis, Cryptorchidism, Bifid scrotum, Tracheoesophag... |
ORPHA:887 |
Ciliary Dyskinesia, Primary, 30 |
|
Asthma, Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Respira... |
OMIM:616037 |
Isolated Klippel-Feil Syndrome |
|
Sprengel anomaly, Cervical C2/C3 vertebral fusion, Abnormal vertebral segmentation and fusion, Sh... |
ORPHA:2345 |
Pulmonary Alveolar Proteinosis, Acquired |
|
Intraalveolar phospholipid accumulation, Brain abscess, Decreased DLCO, Cough, Pneumonia, Restric... |
OMIM:610910 |
Magel2-Related Prader-Willi-Like Syndrome |
|
External genital hypoplasia, Primary amenorrhea, Clitoral hypoplasia, Hypogonadism, Small scrotum... |
ORPHA:398069 |
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes |
|
Irregular vertebral endplates, Kyphoscoliosis, Short stature, Platyspondyly, Lumbar scoliosis, Se... |
OMIM:612847 |
Cholesterol Pneumonia |
|
Pneumonia, Cough, Tachypnea |
OMIM:215030 |
Anaplastic Thyroid Carcinoma |
|
Respiratory distress, Anaplastic thyroid carcinoma, Nodular goiter, Tracheoesophageal fistula, Ne... |
ORPHA:142 |
Epiphyseal Dysplasia, Multiple, 6 |
|
Irregular vertebral endplates, Intervertebral disk calcification, Flat capital femoral epiphysis,... |
OMIM:614135 |
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus |
|
Absent central microtubular pair morphology of respiratory motile cilia, Recurrent sinusitis, Rec... |
OMIM:620032 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Abnormal rib morphology, Short neck, Vertebral segmentation defect |
ORPHA:2578 |
Ciliary Dyskinesia, Primary, 26 |
|
Recurrent otitis media, Respiratory insufficiency due to defective ciliary clearance, Chronic bro... |
OMIM:615500 |
Acrocapitofemoral Dysplasia |
|
Narrow chest, Cone-shaped metacarpal epiphyses, Coxa vara, Pectus excavatum, Abnormal femoral nec... |
ORPHA:63446 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Rib fusion, Thin ribs, Short ribs, Supernumerary vertebrae, Hemivertebrae, Short neck, Scoliosis,... |
OMIM:271520 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Absent bronchoalveolar surfactant-protein C, Desquamative interstitial pneu... |
OMIM:610913 |
Pneumocystosis |
|
Chronic oral candidiasis, Multiple pulmonary cysts, Hypoxemia, Nonproductive cough, Respiratory i... |
ORPHA:723 |
Geleophysic Dysplasia 3 |
|
Sleep apnea, Short stature, Tracheal stenosis, Pneumonia, Dyspnea, Respiratory failure, Subglotti... |
OMIM:617809 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Coxa vara, Tibial bowing, Metaphyseal cupping, Radial bowing, Flared iliac wing, Femoral bowing, ... |
OMIM:602111 |
Acrocapitofemoral Dysplasia |
|
Cone-shaped epiphyses of the phalanges of the hand, Pectus excavatum, Hypoplasia of the radius, C... |
OMIM:607778 |
Brachyolmia Type 1, Toledo Type |
|
Precocious costochondral ossification, Irregular vertebral endplates, Kyphoscoliosis, Squared-off... |
OMIM:271630 |
Ciliary Dyskinesia, Primary, 45 |
|
Chronic rhinitis, Bronchiectasis, Absent inner and outer dynein arms, Immotile cilia, Recurrent r... |
OMIM:618801 |
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Coxa vara, Metaphyseal dysplasia, Metaphyseal irregularity, Short ribs, Abnormally ossified verte... |
OMIM:613330 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Enlarged joints, Cone-shaped epiphyses of the phalanges of the hand, Halberd-shaped pelvis, Platy... |
OMIM:184252 |
Ciliary Dyskinesia, Primary, 5 |
|
Recurrent otitis media, Respiratory insufficiency due to defective ciliary clearance, Chronic bro... |
OMIM:608647 |
Plin1-Related Familial Partial Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Infertility, Hyperinsulinemia, Oligomenorrhea, Insulin-resis... |
ORPHA:280356 |
Axial Spondylometaphyseal Dysplasia |
|
Platyspondyly, Upper limb undergrowth, Flared, irregular rib ends, Thoracic hypoplasia, Narrow gr... |
ORPHA:168549 |
Pulmonary Venoocclusive Disease 1, Autosomal Dominant |
|
Interlobular septal thickening, Pulmonary arterial hypertension, Centrilobular ground-glass opaci... |
OMIM:265450 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Metaphyseal irregularity, Tibial bowing, Metaphyseal cupping, Coxa vara, Narrow greater sciatic n... |
OMIM:608940 |
Diaphanospondylodysostosis |
|
Enlarged thorax, Abnormal vertebral segmentation and fusion, Short neck, Absent or minimally ossi... |
ORPHA:66637 |
Microlissencephaly |
|
Pneumonia |
ORPHA:1083 |
Kuskokwim Syndrome |
|
Abnormal clavicle morphology, Aplasia/Hypoplasia of the patella, Scoliosis, Abnormal form of the ... |
ORPHA:1149 |
Ciliary Dyskinesia, Primary, 14 |
|
Bronchiectasis, Chronic bronchitis, Otitis media, Absent inner dynein arms, Abnormal axonemal org... |
OMIM:613807 |
Ciliary Dyskinesia, Primary, 27 |
|
Recurrent otitis media, Respiratory insufficiency due to defective ciliary clearance, Chronic bro... |
OMIM:615504 |
Tetraamelia-Multiple Malformations Syndrome |
|
Cryptorchidism, Abnormally ossified vertebrae, Microtia, Multicystic kidney dysplasia, Abnormal l... |
ORPHA:3301 |
Cerebrofaciothoracic Dysplasia |
|
Sprengel anomaly, Rib fusion, Bifid ribs, Narrow chest, Vertebral segmentation defect, Hemiverteb... |
ORPHA:1394 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Respiratory distress, Abnormal pinna morphology, Short palpebral fissure, Tracheomalacia, Hypospa... |
OMIM:217980 |
Xp22.3 Microdeletion Syndrome |
|
Short stature, Hypogonadotropic hypogonadism, Secondary amenorrhea, Polycystic ovaries, Decreased... |
ORPHA:1643 |
Tularemia |
|
Respiratory distress, Pulmonary infiltrates, Conjunctivitis, Skin rash, Otitis media, Anemia, Leu... |
ORPHA:3392 |
Ciliary Dyskinesia, Primary, 39 |
|
Chronic lung disease, Cough, Recurrent lower respiratory tract infections, Rhinorrhea, Recurrent ... |
OMIM:618254 |
Ciliary Dyskinesia, Primary, 19 |
|
Respiratory insufficiency due to defective ciliary clearance, Nasal polyposis, Chronic bronchitis... |
OMIM:614935 |
Jeune Syndrome |
|
Narrow chest, Abnormal sternum morphology, Abnormal clavicle morphology, Cone-shaped epiphysis, B... |
ORPHA:474 |
19P13.3 Microduplication Syndrome |
|
Intrauterine growth retardation, Kyphoscoliosis, Precocious puberty, Constipation, Gastroesophage... |
ORPHA:447980 |
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis |
|
Hypoplasia of penis, Decreased response to growth hormone stimulation test, Congenital hypothyroi... |
OMIM:601427 |
Pulmonary Venoocclusive Disease 2, Autosomal Recessive |
|
Pulmonary venous occlusion, Decreased DLCO, Cough, Dyspnea, Pulmonary arterial hypertension, Pulm... |
OMIM:234810 |
Achondrogenesis, Type Ii |
|
Short ribs, Barrel-shaped chest, Short tubular bones of the hand, Absent vertebral body mineraliz... |
OMIM:200610 |
Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Enlarged joints, Delayed epiphyseal ossification, Pectus excavatum, Spindle-shaped finger, Cutane... |
ORPHA:166024 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Blind vagina, Ovarian cyst, Decreased circulating cortisol level, Primary amenorrhea, Abnormal re... |
ORPHA:90793 |
Prader-Willi Syndrome |
|
Hyperinsulinemia, External genital hypoplasia, Primary amenorrhea, Clitoral hypoplasia, Genu valg... |
OMIM:176270 |
Dyggve-Melchior-Clausen Disease |
|
Broad carpal bones, Short neck, Platyspondyly, Hypoplasia of the capital femoral epiphysis, Pectu... |
ORPHA:239 |
Ciliary Dyskinesia, Primary, 34 |
|
Bronchiectasis, Absent central microtubular pair morphology of respiratory motile cilia, Chronic ... |
OMIM:617091 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Abnormality of the humeroulnar joint, Hemivertebrae, Short neck, Abnormal form of the vertebral b... |
ORPHA:2234 |
Symbrachydactyly Of Hands And Feet |
|
Vertebral segmentation defect, Abnormality of the humeroulnar joint, Abnormal morphology of ulna,... |
ORPHA:1570 |
Craniodiaphyseal Dysplasia |
|
Abnormal rib morphology, Diaphyseal thickening |
ORPHA:1513 |
Functioning Gonadotropic Adenoma |
|
Impotence, Ovarian cyst, Central diabetes insipidus, Pituitary gonadotropic cell adenoma, Enlarge... |
ORPHA:91348 |
Dextrocardia With Unusual Facies And Microphthalmia |
|
Vertebral segmentation defect, Supernumerary ribs, Vertebral fusion |
OMIM:221950 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Irregular vertebral endplates, Advanced ossification of carpal bones, Kyphoscoliosis, Knee disloc... |
OMIM:618363 |
Ciliary Dyskinesia, Primary, 35 |
|
Cough, Chronic rhinitis, Chronic sinusitis, Bronchiectasis, Nasal polyposis, Recurrent respirator... |
OMIM:617092 |
Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Pulmonary infiltrates, Neutrophilia, Leukocytosis, Nonproductive cough, Ple... |
ORPHA:36238 |
Ciliary Dyskinesia, Primary, 46 |
|
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent sinusiti... |
OMIM:619436 |
Ciliary Dyskinesia, Primary, 12 |
|
Chronic pulmonary obstruction, Abnormal central microtubular pair morphology of respiratory motil... |
OMIM:612650 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Abnormal pinna morphology, Kyphoscoliosis, Stippled calcification in carpal bones, Sparse eyebrow... |
OMIM:302960 |
Tracheobronchomegaly |
|
Bronchiectasis, Recurrent bronchopulmonary infections |
OMIM:275300 |
Ciliary Dyskinesia, Primary, 13 |
|
Absent inner dynein arms, Recurrent sinusitis, Recurrent bronchitis, Ciliary dyskinesia, Recurren... |
OMIM:613193 |
Juberg-Hayward Syndrome |
|
Abnormality of finger, Hypoplasia of the radius, Scoliosis, Radioulnar synostosis, Abnormal rib m... |
ORPHA:2319 |
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome |
|
Aspiration pneumonia |
OMIM:609528 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Kyphosis, Abnormal clavicle morphology, Pectus excavatum, Abnormal hip bone morphology, Short nec... |
ORPHA:2522 |
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy |
|
Abnormal calcium-phosphate regulating hormone level, Precocious puberty, Joint dislocation, Hyper... |
ORPHA:457059 |
Aspergillosis |
|
Keratitis, Ground-glass opacification, Abnormality on pulmonary function testing, Rhinorrhea, Pne... |
ORPHA:1163 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Otitis media, Purulent rhinitis, B lymphocytopenia, Arthritis, T lymphocytopenia, Pneumonia, Conj... |
OMIM:601457 |
Hypersecretion Of Adrenal Androgens, Familial |
|
Amenorrhea, Premature pubarche, Increased circulating androgen concentration, Adrenal overactivity |
OMIM:145295 |
Whim Syndrome |
|
Sinusitis, Neutropenia, Lymphopenia, Otitis media, Recurrent upper respiratory tract infections, ... |
ORPHA:51636 |
Igg4-Related Thyroid Disease |
|
Abnormality of the pituitary gland, Sialadenitis, Graves disease, Euthyroid goiter, Abnormality o... |
ORPHA:64744 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Respiratory distress, Chronic pulmonary obstruction, Crackles, Cough, Pneumothorax, Pulmonary opa... |
ORPHA:411703 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Narrow chest, Abnormal clavicle morphology, Short neck, Platyspondyly, Abnormal rib morphology, A... |
ORPHA:93267 |
Ciliary Dyskinesia, Primary, 22 |
|
Recurrent otitis media, Respiratory insufficiency due to defective ciliary clearance, Nasal polyp... |
OMIM:615444 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Testicular microlithiasis, Micropenis, Ovarian cyst, ... |
OMIM:228300 |
Thoracic Dysostosis, Isolated |
|
Pectus excavatum, Bell-shaped thorax, Short ribs |
OMIM:187750 |
Rigid Spine Syndrome |
|
Respiratory insufficiency, Abnormality on pulmonary function testing, Pneumonia |
ORPHA:97244 |
Osteogenesis Imperfecta, Type Xv |
|
Platyspondyly, Scoliosis, Thin ribs |
OMIM:615220 |
Thoracomelic Dysplasia |
|
Narrow chest, Short ribs, Short neck, Bell-shaped thorax, Abnormality of fibula morphology, Hyper... |
ORPHA:1803 |
Pontine Tegmental Cap Dysplasia |
|
Rib fusion, Hemivertebrae, Ankle clonus, Scoliosis |
OMIM:614688 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Narrow chest, Postaxial polydactyly, Brachydactyly, Bell-shaped thorax, Horizontal ribs, Thoracic... |
OMIM:615633 |
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Polycystic ovaries, Precocious puberty, Ptosis |
ORPHA:2229 |
Ciliary Dyskinesia, Primary, 3 |
|
Recurrent otitis media, Recurrent sinusitis, Ciliary dyskinesia, Bronchiectasis, Neonatal respira... |
OMIM:608644 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Precocious puberty, Feeding difficulties, Gonadal dysgenesis, Low-set, posteriorly rotated ears, ... |
ORPHA:3306 |
Cutis Laxa, Autosomal Recessive, Type Ia |
|
Recurrent respiratory infections, Emphysema |
OMIM:219100 |
Meier-Gorlin Syndrome 4 |
|
Emphysema |
OMIM:613804 |
Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
|
Abnormal rib morphology, Slender long bone, Abnormal pelvic girdle bone morphology |
ORPHA:1506 |
Ataxia-Telangiectasia |
|
Telangiectasia of the skin, Premature graying of hair, Type II diabetes mellitus, Prematurely age... |
ORPHA:100 |
Immunodeficiency, Common Variable, 1 |
|
Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, B lymphocytopenia, Recurrent ... |
OMIM:607594 |
Cortisone Reductase Deficiency 1 |
|
Infertility, Precocious puberty, Oligomenorrhea |
OMIM:604931 |
Ciliary Dyskinesia, Primary, 41 |
|
Recurrent sinusitis, Impaired nasal mucociliary clearance, Recurrent otitis media, Bronchiectasis |
OMIM:618449 |
Thoracomelic Dysplasia |
|
Short ribs, Bell-shaped thorax |
OMIM:273740 |
Renal Hypodysplasia/Aplasia 4 |
|
Pulmonary hypoplasia, Respiratory failure |
OMIM:619887 |
Nocardiosis |
|
Respiratory distress, Keratitis, Lymphadenitis, Pneumonia, Pericarditis, Respiratory failure, Scl... |
ORPHA:31204 |
Sarcoidosis, Susceptibility To, 1 |
|
Iridocyclitis, Pulmonary infiltrates, Elevated bronchoalveolar lavage fluid lymphocyte proportion... |
OMIM:181000 |
Temple Syndrome |
|
Precocious puberty, Type II diabetes mellitus, Decreased response to growth hormone stimulation t... |
ORPHA:254516 |
Schneckenbecken Dysplasia |
|
Narrow chest, Metaphyseal irregularity, Advanced ossification of carpal bones, Short long bone, S... |
OMIM:269250 |
Infantile Osteopetrosis With Neuroaxonal Dysplasia |
|
Pneumonia |
ORPHA:85179 |
Acute Lung Injury |
|
Respiratory distress, Pulmonary infiltrates, Abnormal pulmonary interstitial morphology, Tachypne... |
ORPHA:178320 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Ambiguous genitalia, female, Decreased circulating cortisol level, Premature thelarche, Long peni... |
ORPHA:90795 |
Osteoarthritis With Mild Chondrodysplasia |
|
Irregular vertebral endplates, Beaking of vertebral bodies, Platyspondyly, Hip osteoarthritis, He... |
OMIM:604864 |
Spondyloepimetaphyseal Dysplasia With Hypotrichosis |
|
Delayed epiphyseal ossification, Proximal humeral metaphyseal irregularity, Coxa vara, Increased ... |
OMIM:183849 |
Ciliary Dyskinesia, Primary, 16 |
|
Absent outer dynein arms, Chronic otitis media, Chronic rhinitis, Ciliary dyskinesia, Chronic sin... |
OMIM:614017 |
Immunodeficiency 60 And Autoimmunity |
|
Crohn's disease, Pulmonary infiltrates, Colitis, Splenomegaly, Decreased basophil count, Pancytop... |
OMIM:618394 |
Myotonia With Skeletal Abnormalities And Mental Retardation |
|
Kyphoscoliosis, Irregular femoral epiphysis, Pectus carinatum, Bell-shaped thorax, Genu valgum, V... |
OMIM:255710 |
Frontometaphyseal Dysplasia 2 |
|
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal pinna morphology, Dislo... |
OMIM:617137 |
Nephronophthisis-Like Nephropathy 2 |
|
Bronchiectasis, Pulmonary infiltrates, Recurrent respiratory infections, Cough |
OMIM:619468 |
Pseudoachondroplasia |
|
Fragmented epiphyses, Irregular carpal bones, Fragmented, irregular epiphyses, Platyspondyly, Sma... |
OMIM:177170 |
Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Cough, Recurrent sinusitis, Neonatal respiratory distress, Bronchiectasis, Recurrent respiratory ... |
OMIM:300991 |
Immunodeficiency 27A |
|
Histiocytosis, Pulmonary infiltrates, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocyto... |
OMIM:209950 |
Laryngotracheoesophageal Cleft Type 4 |
|
Tracheoesophageal fistula, Respiratory insufficiency, Tracheal stenosis, Abnormal form of the ver... |
ORPHA:93941 |
Ciliary Dyskinesia, Primary, 32 |
|
Ciliary dyskinesia, Bronchiectasis, Neonatal respiratory distress, Immotile cilia, Recurrent resp... |
OMIM:616481 |
Holt-Oram Syndrome |
|
Sprengel anomaly, Kyphosis, Abnormal clavicle morphology, Pectus excavatum, Absent thumb, Down-sl... |
ORPHA:392 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Abnormal hip bone morphology, Short neck, Abnormal form of the vertebral bodies, Slender long bon... |
ORPHA:1486 |
Diastrophic Dysplasia |
|
Hypertrophic auricular cartilage, Kyphoscoliosis, Lumbar hyperlordosis, Disproportionate short-li... |
OMIM:222600 |
Lymphangioleiomyomatosis |
|
Pulmonary infiltrates, Chylothorax, Cough, Atelectasis, Restrictive ventilatory defect, Emphysema... |
ORPHA:538 |
Scedosporiosis |
|
Sinusitis, Osteomyelitis, Apical pulmonary opacity, Pleural empyema, Endocarditis, Cough, Pleurit... |
ORPHA:449280 |
Fraser Syndrome |
|
Ambiguous genitalia, Pulmonary hypoplasia, Small scrotum, Subglottic stenosis, Vertebral segmenta... |
ORPHA:2052 |
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked |
|
Abnormal rib morphology |
OMIM:300864 |
Diastrophic Dysplasia |
|
Kyphosis, Abnormal clavicle morphology, Hypoplastic cervical vertebrae, Joint dislocation, Campto... |
ORPHA:628 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Respiratory distress, Crazy paving pattern, Crackles, Acute infectious pneumonia, Tachypnea, Resp... |
ORPHA:264675 |
Immunodeficiency 75 |
|
Bronchiectasis, Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Recurr... |
OMIM:619126 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Down-sloping shoulders, Short neck, Ulnar deviation of finger, Rocker bottom foot, Pterygium, Rib... |
OMIM:265000 |
Ciliary Dyskinesia, Primary, 17 |
|
Cough, Chronic rhinitis, Abnormal respiratory motile cilium morphology, Ciliary dyskinesia, Chron... |
OMIM:614679 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Interlobular septal thickening, Apnea, Desquamative interstitial pneumonitis, Intraalveolar phosp... |
OMIM:265120 |
Cutis Laxa, Autosomal Dominant 1 |
|
Bronchiectasis, Dyspnea, Peripheral pulmonary artery stenosis, Emphysema |
OMIM:123700 |
Congenital Hypothyroidism |
|
Sinusitis, Abnormality of the thyroid gland, Constipation, Abdominal distention, Prolonged neonat... |
ORPHA:442 |
Diffuse Alveolar Hemorrhage |
|
Irregular septal thickening on pulmonary HRCT, Airway obstruction, Increased DLCO, Pulmonary veno... |
ORPHA:90060 |
Immunodeficiency 62 |
|
Bronchiectasis, Autoimmune thrombocytopenia |
OMIM:618459 |
Fusariosis |
|
Keratitis, Maculopapular exanthema, Ground-glass opacification, Pneumonia, Osteomyelitis, Air cre... |
ORPHA:228119 |
46,Xx Testicular Disorder Of Sex Development |
|
Polycystic ovaries, Ambiguous genitalia, Decreased testicular size, Male hypogonadism |
ORPHA:393 |
Larsen-Like Syndrome, Lethal Type |
|
Joint dislocation, Abnormal cartilage matrix, Tracheomalacia, Respiratory insufficiency, Neonatal... |
OMIM:245650 |
Smith-Mccort Dysplasia 1 |
|
Metaphyseal irregularity, Multicentric femoral head ossification, Kyphosis, Prominent sternum, Be... |
OMIM:607326 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Abnormal antihelix morphology, Abnormal pinna morphology, Constipation, Elbow ankylosis, Abnormal... |
ORPHA:95699 |
Rhizomelic Dysplasia, Scoliosis, And Retinitis Pigmentosa |
|
Short clavicles, Short ribs, Short humerus, Short neck, Short femoral neck, Scoliosis, Biconcave ... |
OMIM:610319 |
Fibrochondrogenesis 2 |
|
Metaphyseal cupping, Short ribs, Hypoplastic ilia, Metaphyseal widening, Platyspondyly, Hypoplast... |
OMIM:614524 |
Granulomatous Disease, Chronic, X-Linked |
|
Impaired oxidative burst, Discoid lupus rash, Recurrent bacterial skin infections, Eczematoid der... |
OMIM:306400 |
Idiopathic Pulmonary Hemosiderosis |
|
Pulmonary infiltrates, Nodular pattern on pulmonary HRCT, Hepatosplenomegaly, Crackles, Reticular... |
ORPHA:99931 |
Ciliary Dyskinesia, Primary, 38 |
|
Chronic otitis media, Cough, Chronic sinusitis, Bronchiectasis, Neonatal respiratory distress, Rh... |
OMIM:618063 |
Larsen Syndrome |
|
Conductive hearing impairment, Beaking of vertebral bodies, Accessory carpal bones, Knee dislocat... |
OMIM:150250 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Periodontitis, Neutrophilia, Bronchiolitis, Pneumonia, Recurrent otitis media, Reduction of neutr... |
OMIM:266265 |
Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Sprengel anomaly, Cervical C2/C3 vertebral fusion, Abnormal vertebral segmentation and fusion, Sh... |
OMIM:118100 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Asthma, Recurrent bacterial skin infections, Atopic dermatitis, Chronic otitis media, B lymphocyt... |
ORPHA:217390 |
Smith-Lemli-Opitz Syndrome |
|
Cutis marmorata, Downslanted palpebral fissures, Ambiguous genitalia, Rhizomelia, Pulmonary hypop... |
ORPHA:818 |
Ciliary Dyskinesia, Primary, 7 |
|
Reduced FEV1/FVC ratio, Cough, Chronic rhinitis, Ciliary dyskinesia, Recurrent pneumonia, Restric... |
OMIM:611884 |
Spondylometaphyseal Dysplasia, Algerian Type |
|
Coxa vara, Hypoplasia of proximal radius, Metaphyseal dysplasia, Kyphoscoliosis, Lumbar hyperlord... |
OMIM:184253 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Aspiration pneumonia, Cough, Respiratory failure requiring assisted ventilation, Dyspnea, Respira... |
ORPHA:90117 |
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
|
Abnormal rib morphology, Hypoplastic distal segments of scapulae, Pectus excavatum |
OMIM:602196 |
Isolated Agammaglobulinemia |
|
Sinusitis, Skin rash, Otitis media, Abnormal lymphocyte morphology, Arthritis, Abnormality of neu... |
ORPHA:229717 |
Radio-Tartaglia Syndrome |
|
Large earlobe, Low-set ears, Conductive hearing impairment, Precocious puberty, Constipation, Gas... |
OMIM:619312 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity |
|
Dislocated radial head, Beaking of vertebral bodies, Kyphoscoliosis, Hypoplastic ilia, Flared met... |
ORPHA:93359 |
Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Adrenocorticotropic hormone deficiency, Impotence, Precocious puberty, Decreased response to grow... |
ORPHA:91354 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Coxa vara, Kyphosis, Lumbar hyperlordosis, Hump-shaped mound of bone in central and posterior por... |
OMIM:313400 |
Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Neutrophilia, Hypoxemia, Leukocytosis, Nonproductive cough, Crackles, Wheez... |
ORPHA:1302 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Metaphyseal cupping of proximal phalanges, Metaphyseal cupping, Thin ribs, Platyspondyly, 11 pair... |
OMIM:300863 |
Cd8 Deficiency, Familial |
|
Bronchiectasis, Absence of CD8-positive T cells, Recurrent respiratory infections |
OMIM:608957 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Precocious puberty, Feeding difficulties, Maturity-onset diabetes of the young, Scoliosis, Postna... |
ORPHA:254531 |
Ciliary Dyskinesia, Primary, 2 |
|
Respiratory distress, Sinusitis, Nasal polyposis, Otitis media, Ciliary dyskinesia, Bronchiectasi... |
OMIM:606763 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Metaphyseal irregularity, Delayed epiphyseal ossification, Coxa vara, Lumbar hyperlordosis, Narro... |
OMIM:602557 |
Waardenburg Syndrome Type 3 |
|
Thick eyebrow, Tracheomalacia, Camptodactyly of finger, Synostosis of carpal bones, Downslanted p... |
ORPHA:896 |
Ophthalmoplegia, External, With Rib And Vertebral Anomalies |
|
Pectus excavatum, Short ribs, Scoliosis, Pseudoarthrosis, Missing ribs |
OMIM:618155 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Sprengel anomaly, Hemivertebrae, Brachydactyly, Scoliosis, Abnormal form of the vertebral bodies,... |
ORPHA:2180 |
White Forelock With Malformations |
|
Sprengel anomaly, Clinodactyly of the 5th finger, Spina bifida occulta, Abnormal rib morphology, ... |
ORPHA:2475 |
Distal Monosomy 10P |
|
Hypoplasia of penis, Cryptorchidism, Short stature, Polycystic ovaries, Low-set, posteriorly rota... |
ORPHA:1580 |
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion |
|
Precocious puberty, Low-set, posteriorly rotated ears, Feeding difficulties in infancy, Postnatal... |
ORPHA:254525 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant |
|
Irregular vertebral endplates, Kyphoscoliosis, Lumbar hyperlordosis, Barrel-shaped chest, Platysp... |
OMIM:184100 |
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Coxa vara, Prominent sternum, Thin ribs, Flared iliac wing, Metaphyseal widening, Short neck, Ant... |
OMIM:300232 |
Immunodeficiency 52 |
|
Lymphopenia, Coombs-positive hemolytic anemia, Increased proportion of gamma-delta T cells, Splen... |
OMIM:617514 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Rib fusion, Craniosynostosis, Scoliosis, Abnormal vertebral morphology, Hand polydactyly |
ORPHA:261197 |
Slc35A1-Cdg |
|
Respiratory distress, Neutropenia, Pulmonary hemorrhage, Giant platelets, Pneumonia, Hypoxemia, T... |
ORPHA:238459 |
Primary Pulmonary Hypoplasia |
|
Apnea, Asthma, Intrauterine growth retardation, Hypoxemia, Abnormal tracheal morphology, Cyanosis... |
ORPHA:2257 |
Familial Male-Limited Precocious Puberty |
|
Precocious puberty, Oligospermia, Long penis, Male infertility, Macroorchidism |
ORPHA:3000 |
Greenberg Dysplasia |
|
Narrow chest, Anterior rib punctate calcifications, Abnormally ossified vertebrae, Platyspondyly,... |
ORPHA:1426 |
Retinal Dystrophy With Or Without Extraocular Anomalies |
|
Secondary amenorrhea, Pulmonary fibrosis, Premature ovarian insufficiency, Goiter |
OMIM:617175 |
Ollier Disease |
|
Platyspondyly, Precocious puberty, Multiple enchondromatosis, Abnormal cartilage morphology |
ORPHA:296 |
Chromosome Xp11.23-P11.22 Duplication Syndrome |
|
Precocious puberty, Thick eyebrow, Overfolded helix, Downslanted palpebral fissures, Synophrys, P... |
OMIM:300801 |
Basilicata-Akhtar Syndrome |
|
Abnormal pinna morphology, Precocious puberty, Gastroesophageal reflux, Feeding difficulties, Dow... |
OMIM:301032 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Abnormal lacrimal duct morphology, Female infertility, Streak ovary, Hypergonadotropic hypogonadi... |
ORPHA:572333 |
Dyggve-Melchior-Clausen Disease |
|
Cone-shaped epiphyses of the phalanges of the hand, Prominent sternum, Femoral bowing, Barrel-sha... |
OMIM:223800 |
Polyembryoma |
|
Increased serum serotonin, Abnormality of the endocrine system, Increased serum testosterone leve... |
ORPHA:180229 |
Mccune-Albright Syndrome |
|
Increased serum testosterone level, Precocious puberty, Gastroesophageal reflux, Elevated circula... |
ORPHA:562 |
Lipodystrophy, Familial Partial, Type 3 |
|
Reduced subcutaneous adipose tissue, Hyperinsulinemia, Type II diabetes mellitus, Oligomenorrhea,... |
OMIM:604367 |
Mosaic Trisomy 14 |
|
Narrow chest, Camptodactyly of finger, Short neck, Abnormal rib morphology |
ORPHA:1703 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Pulmonary artery stenosis, Pulmonary hypoplasia, Emphysema, Tracheomalacia |
OMIM:613177 |
Immunodeficiency 14A, Autosomal Dominant |
|
Splenomegaly, T lymphocytopenia, Decreased proportion of class-switched memory B cells, Bronchiec... |
OMIM:615513 |
Asherman Syndrome |
|
Infertility, Miscarriage, Episodic abdominal pain, Dysmenorrhea, Metrorrhagia, Oligomenorrhea, Ab... |
ORPHA:137686 |
Pulmonary Hypoplasia, Primary |
|
Pulmonary hypoplasia |
OMIM:265430 |
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome |
|
Bronchiectasis, Neonatal asphyxia, Congenital laryngeal stridor |
ORPHA:2375 |
Donohue Syndrome |
|
Precocious puberty, Abdominal distention, Hyperinsulinemia, Ovarian cyst, Long penis, Clitoral hy... |
OMIM:246200 |
Kbg Syndrome |
|
Rib fusion, Clinodactyly of the 5th finger, Ulnar deviation of the 2nd finger, Cutaneous syndacty... |
OMIM:148050 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Osteomyelitis, Skin rash, Eczema, Eosinophilia, Chronic otitis media, Cough, Atelectasis, Recurre... |
ORPHA:2314 |
Loeys-Dietz Syndrome 4 |
|
Pneumothorax, Eosinophilic infiltration of the esophagus, Emphysema |
OMIM:614816 |
Fibrochondrogenesis 1 |
|
Short neck, Platyspondyly, Dumbbell-shaped long bone, Posterior rib cupping, Short long bone, Tho... |
OMIM:228520 |
Silver-Russell Syndrome |
|
Abnormal vagina morphology, Precocious puberty, Gastroesophageal reflux, Constipation, Cryptorchi... |
ORPHA:813 |
Bainbridge-Ropers Syndrome |
|
Vomiting, Downslanted palpebral fissures, Long eyelashes, Intrauterine growth retardation, Precoc... |
OMIM:615485 |
Neonatal Alloimmune Neutropenia |
|
Neutropenia in presence of anti-neutropil antibodies, Pneumonia |
ORPHA:464370 |
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Decreased fertility in males, Decreased circulating androgen concentration, Hypergonadotropic hyp... |
ORPHA:90796 |
Mucopolysaccharidosis Type 4 |
|
Spinal canal stenosis, Kyphosis, Joint dislocation, Short neck, Platyspondyly, Scoliosis, Pectus ... |
ORPHA:582 |
Cleft Velum |
|
Aspiration pneumonia, Recurrent otitis media |
ORPHA:99772 |
Congenital Respiratory-Biliary Fistula |
|
Tracheal stenosis |
ORPHA:2040 |
Ovarian Hyperstimulation Syndrome |
|
Increased serum testosterone level, Pulmonary edema, Abdominal distention, Abdominal pain, Ovaria... |
ORPHA:64739 |
Klippel-Feil Syndrome 3, Autosomal Dominant |
|
Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion, Thoracic scoliosis |
OMIM:613702 |
Lymphoid Interstitial Pneumonia |
|
Pulmonary venous hypertension, Subpleural interstitial thickening, Multiple pulmonary cysts, Hypo... |
ORPHA:79128 |
Fraser Syndrome 3 |
|
Tracheal atresia, Cryptophthalmos, Small scrotum, Abnormal lung lobation |
OMIM:617667 |
Septopreoptic Holoprosencephaly |
|
Abnormal rib morphology, Abnormal vertebral morphology |
ORPHA:280195 |
Fibrochondrogenesis |
|
Narrow chest, Short ribs, Camptodactyly of finger, Short neck, Brachydactyly, Abnormal form of th... |
ORPHA:2021 |
Myotubular Myopathy With Abnormal Genital Development |
|
Respiratory distress, Ambiguous genitalia, male, Feeding difficulties, Bifid scrotum, Micropenis,... |
OMIM:300219 |
Combined Oxidative Phosphorylation Deficiency 51 |
|
Aspiration pneumonia, Respiratory failure, Neonatal respiratory distress |
OMIM:619057 |
Congenital Generalized Lipodystrophy |
|
Amenorrhea, Precocious puberty in females, Hyperinsulinemia, Oligomenorrhea, Clitoral hypertrophy... |
ORPHA:528 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Lymphopenia, Inflammation of the large intestine, Pulmonary hypoplasia, Bronchiectasis, Interstit... |
OMIM:619708 |
Severe Acute Respiratory Syndrome |
|
Respiratory distress, Chronic lung disease, Acute infectious pneumonia, Respiratory failure requi... |
ORPHA:140896 |
Cystic Echinococcosis |
|
Abdominal symptom, Abnormality of the testis size, Urticaria, Asthma, Jaundice, Multiple pulmonar... |
ORPHA:400 |
Metaphyseal Dysostosis, Mental Retardation, And Conductive Deafness |
|
Broad phalanx, Genu valgum, Irregular iliac crest, Short long bone, Metaphyseal irregularity, Sho... |
OMIM:250420 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Neutropenia, Lymphopenia, Chronic pulmonary obstruction, Chronic bronchitis, Abnormally low T cel... |
OMIM:618986 |
Thanatophoric Dysplasia, Type I |
|
Narrow chest, Wide-cupped costochondral junctions, Small abnormally formed scapulae, Metaphyseal ... |
OMIM:187600 |
Grant Syndrome |
|
Sprengel anomaly, Narrow chest, Joint dislocation, Abnormality of the glenoid fossa, Wormian bone... |
ORPHA:2097 |
Osteogenesis Imperfecta, Type Ii |
|
Tibial bowing, Thin ribs, Platyspondyly, Crumpled long bones, Wormian bones, Bell-shaped thorax, ... |
OMIM:166210 |
Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:97330 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hyperactive renin-angiotensin system, Ambiguous genitalia, female, Miscarriage, Abnormal external... |
ORPHA:90794 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Abnormal humeral metaphysis morphology, Platyspondyly, Pectus carinatum, Premature osteoarthritis... |
ORPHA:93314 |
Ciliary Dyskinesia, Primary, 25 |
|
Sinusitis, Chronic pulmonary obstruction, Recurrent sinusitis, Ciliary dyskinesia, Bronchiectasis... |
OMIM:615482 |
Mucopolysaccharidosis, Type X |
|
Beaking of vertebral bodies, Platyspondyly, Scoliosis, Broad clavicles, Hyperlordosis, Irregular ... |
OMIM:619698 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Neutropenia in presence of anti-neutropil antibodies, Fluctuating splenomegaly, Autoimmune thromb... |
OMIM:619220 |
Xp22.13P22.2 Duplication Syndrome |
|
Short stature, Recurrent upper respiratory tract infections, Scoliosis, Downslanted palpebral fis... |
ORPHA:284180 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Kyphosis, Aplasia/Hypoplasia of fingers, Clinodactyly of the 5th finger, Broad hallux phalanx, Sh... |
ORPHA:3082 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Vertebral segmentation defect, Rib fusion, Pectus excavatum, Abnormal sternum morphology, Multipl... |
ORPHA:2990 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Tibial bowing, Radial bowing, Abnormally ossified vertebrae, Abnormal rib morphology, Abnormality... |
ORPHA:3035 |
Retinal Dystrophy And Microvillus Inclusion Disease |
|
Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Bronc... |
OMIM:619446 |
Craniofacioskeletal Syndrome |
|
Intrauterine growth retardation, Short palpebral fissure, Microtia, Short stature, Hypospadias, D... |
OMIM:300712 |
Caspase 8 Deficiency |
|
Asthma, Splenomegaly, Eczema, Pneumonia, Recurrent sinopulmonary infections, Decreased CD4:CD8 ratio |
OMIM:607271 |
Adult Acute Respiratory Distress Syndrome |
|
Abnormal blood gas level, Pulmonary infiltrates, Pulmonary edema, Pancreatitis, Pneumonia, Hypoxe... |
ORPHA:70578 |
Mucopolysaccharidosis, Type Iva |
|
Pointed proximal second through fifth metacarpals, Prominent sternum, Anterior beaking of lumbar ... |
OMIM:253000 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Micropenis, Microtia, Hypospadias, Upslanted palpebral fissure, Respiratory insufficiency, Short ... |
ORPHA:163979 |
Achondrogenesis Type 1B |
|
Narrow chest, Short neck, Abnormal rib morphology, Short foot, Short thorax |
ORPHA:93298 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Clinodactyly of the 5th finger, Arachnodactyly, Hemivertebrae, Abnormal form of the vertebral bod... |
ORPHA:2759 |
Avian Influenza |
|
Respiratory distress, Pulmonary infiltrates, Conjunctivitis, Lymphopenia, Nonproductive cough, Le... |
ORPHA:454836 |
Complement Factor B Deficiency |
|
Peritonitis, Pneumonia |
OMIM:615561 |
Severe Combined Immunodeficiency, X-Linked |
|
Chronic oral candidiasis, Skin rash, Hypoplasia of the thymus, T lymphocytopenia, Impaired lympho... |
OMIM:300400 |
Pulmonary Alveolar Microlithiasis |
|
Ground-glass opacification, Pneumothorax, Respiratory failure, Decreased fertility, Interlobular ... |
ORPHA:60025 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Pectus excavatum, Hypoplastic sacrum, Hypoplasia of the radius, Hemivertebrae, Duplication of the... |
OMIM:268310 |
Autosomal Recessive Cutis Laxa Type 1 |
|
Peripheral pulmonary artery stenosis, Respiratory insufficiency, Recurrent pneumonia, Emphysema, ... |
ORPHA:90349 |
Hydrolethalus |
|
Cryptorchidism, Tracheal atresia, Low-set, posteriorly rotated ears, Abnormal fallopian tube morp... |
ORPHA:2189 |
Mucolipidosis Iii Gamma |
|
Kyphosis, Flat capital femoral epiphysis, Abnormal rib cage morphology, Flared iliac wing, Short ... |
OMIM:252605 |
Melnick-Needles Syndrome |
|
Narrow chest, Short distal phalanx of finger, Short clavicles, Cone-shaped epiphyses of the phala... |
ORPHA:2484 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Metacarpal diaphyseal endosteal sclerosis, Metatarsal diaphyseal endosteal sclerosis, Clavicular ... |
OMIM:144750 |
Cartilage-Hair Hypoplasia |
|
Disproportionate short-limb short stature, Sparse eyebrow, Abnormally ossified vertebrae, Biconve... |
ORPHA:175 |
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature |
|
Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Bronc... |
OMIM:615139 |
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive |
|
Recurrent skin infections, Eczema, Atopic dermatitis, Eosinophilia, Chronic mucocutaneous candidi... |
OMIM:618282 |
Smith-Magenis Syndrome |
|
Conductive hearing impairment, Precocious puberty, Gastroesophageal reflux, Constipation, Abnorma... |
ORPHA:819 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Chronic pulmonary obstruction, Recurrent skin infections, Atrophic gastritis, Thrombocytopenia, R... |
OMIM:616576 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory distress, Infantile sensorineural hearing impairment, Respiratory insufficiency, Scol... |
ORPHA:254875 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Leukocytosis, Splenomegaly, Respiratory insufficiency, Intraalveolar phospholipid accumulation, R... |
OMIM:618042 |
3M Syndrome |
|
Kyphosis, Enlarged thorax, Clinodactyly of the 5th finger, Increased vertebral height, Thin ribs,... |
ORPHA:2616 |
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
|
Short stature, Hypergonadotropic hypogonadism, Secondary amenorrhea, Insulin-resistant diabetes m... |
OMIM:268020 |
19P13.12 Microdeletion Syndrome |
|
Sensorineural hearing impairment, Conductive hearing impairment, Kyphosis, Precocious puberty, Cr... |
ORPHA:254346 |
Esophageal Atresia |
|
Respiratory distress, Abnormal external genitalia, Tracheoesophageal fistula, Vomiting, Pulmonary... |
ORPHA:1199 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Precocious puberty, Feeding difficulties, Short stature, Maturity-onset diabetes of the young, Sc... |
ORPHA:96184 |
Farber Disease |
|
Respiratory distress, Joint swelling, Feeding difficulties, Nodular pattern on pulmonary HRCT, He... |
ORPHA:333 |
Congenital Factor Vii Deficiency |
|
Joint hemorrhage, Bruising susceptibility, Ovarian cyst, Menorrhagia, Gastrointestinal hemorrhage... |
ORPHA:327 |
Phaver Syndrome |
|
Butterfly vertebrae, Broad hallux phalanx, Camptodactyly of finger, Abnormal form of the vertebra... |
ORPHA:2876 |
Microphthalmia, Syndromic 3 |
|
Rib fusion, Butterfly vertebrae, Hemivertebrae, Vertebral hypoplasia, Missing ribs, Supernumerary... |
OMIM:206900 |
Hydrolethalus Syndrome 1 |
|
Abnormal vagina morphology, Abnormal pinna morphology, Intrauterine growth retardation, Hypospadi... |
OMIM:236680 |
Lymphangiectasia, Intestinal |
|
Stillbirth, Prominent floating ribs |
OMIM:152800 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Sprengel anomaly, Abnormality of the vertebral column, Abnormal rib morphology |
OMIM:601076 |
Ciliary Dyskinesia, Primary, 37 |
|
Infertility, Goiter, Wheezing, Hypothyroidism, Chronic rhinitis, Rhinorrhea, Bronchiectasis, Hear... |
OMIM:617577 |
Zygomycosis |
|
Pancreatitis, Gastritis, Acute infectious pneumonia, Myocarditis, Rhinorrhea, Pericarditis, Colit... |
ORPHA:73263 |
Keutel Syndrome |
|
Peripheral pulmonary artery stenosis, Airway obstruction, Sinusitis, Recurrent otitis media, Pulm... |
OMIM:245150 |
10Q22.3Q23.3 Microduplication Syndrome |
|
Abnormal rib morphology, Abnormal clavicle morphology |
ORPHA:276422 |
Peripheral Primitive Neuroectodermal Tumor |
|
Neoplasm of the pancreas, Precocious puberty, Ovarian neoplasm, Uterine neoplasm, Episodic abdomi... |
ORPHA:370348 |
Pallister-Hall Syndrome |
|
Decreased circulating cortisol level, Hemivertebrae, Radial head subluxation, Intrauterine growth... |
OMIM:146510 |
Hyperparathyroidism, Transient Neonatal |
|
Narrow chest, Femoral bowing, Thin ribs, Short ribs |
OMIM:618188 |
Cystic Fibrosis With Helicobacter Pylori Gastritis, Megaloblastic Anemia, And Mental Retardation |
|
Megaloblastic anemia, Gastritis, Recurrent bronchopulmonary infections, Recurrent pneumonia, Emph... |
OMIM:219721 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Splenomegaly, Autoimmune thrombocytopenia, Recurrent sinusitis, Recurrent bronchitis, Decreased p... |
OMIM:300853 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Desquamative interstitial pneumonitis, Recurrent upper respiratory tract in... |
OMIM:263000 |
Femoral-Facial Syndrome |
|
Sprengel anomaly, Rib fusion, Short fifth metatarsal, Hypoplastic acetabulae, Dysplastic sacrum, ... |
OMIM:134780 |
Ovarian Fibrothecoma |
|
Increased serum testosterone level, Abdominal distention, Abnormal endometrium morphology, Metror... |
ORPHA:314478 |
Mucopolysaccharidosis, Type Ivb |
|
Pointed proximal second through fifth metacarpals, Kyphosis, Prominent sternum, Constricted iliac... |
OMIM:253010 |
Optic Pathway Glioma |
|
Precocious puberty, Nausea, Growth delay, Vomiting |
ORPHA:2086 |
Ciliary Dyskinesia, Primary, 24 |
|
Sinusitis, Recurrent sinusitis, Ciliary dyskinesia, Bronchiectasis, Rhinitis |
OMIM:615481 |
Phosphoserine Aminotransferase Deficiency |
|
Apnea, Death in infancy, Feeding difficulties, Cyanotic episode |
OMIM:610992 |
Pleural Mesothelioma |
|
Respiratory distress, Abnormal respiratory system physiology, Abnormal pleura morphology, Cough, ... |
ORPHA:50251 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Decreased mean corpuscular volume, Leukocytosis, Anisocytosis, Respiratory insufficiency, Hepatos... |
OMIM:618278 |
Familial Glucocorticoid Deficiency |
|
Adrenal insufficiency, Decreased circulating aldosterone level, Precocious puberty, Constipation,... |
ORPHA:361 |
Precocious Puberty, Central, 2 |
|
Premature thelarche, Premature pubarche |
OMIM:615346 |
Pparg-Related Familial Partial Lipodystrophy |
|
Prominent veins on trunk, Dysmenorrhea, Oligomenorrhea, Primary amenorrhea, Maternal diabetes, Se... |
ORPHA:79083 |
Carpenter Syndrome 1 |
|
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal pinna morphology, Preco... |
OMIM:201000 |
Cog1-Cdg |
|
Posterior rib gap, Rib fusion, Vertebral segmentation defect, Kyphoscoliosis, Butterfly vertebrae... |
ORPHA:263508 |
Cole-Carpenter Syndrome |
|
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies, Wormian bones, Abnormal rib morpholog... |
ORPHA:2050 |
Acrodysplasia Scoliosis |
|
Vertebral segmentation defect, Brachydactyly, Spina bifida occulta, Scoliosis |
ORPHA:2956 |
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome |
|
Gastroesophageal reflux, Feeding difficulties in infancy, Premature pubarche, Gastrostomy tube fe... |
ORPHA:457205 |
Preeclampsia |
|
Abdominal pain, Helicobacter pylori infection, Type I diabetes mellitus, Polycystic ovaries, Intr... |
ORPHA:275555 |
Dentici-Novelli Neurodevelopmental Syndrome |
|
Hearing impairment, Precocious puberty, Upslanted palpebral fissure, Macrotia |
OMIM:619877 |
Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Intrauterine growth retardation, Delayed cranial suture closure, Respirator... |
ORPHA:1832 |
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Narrow chest, Short ribs, Brachydactyly, Polydactyly, Scoliosis, Short long bone |
OMIM:613819 |
Aicardi Syndrome |
|
Bifid ribs, Rib fusion, Butterfly vertebrae, Small hand, Scoliosis, Missing ribs, Block vertebrae... |
ORPHA:50 |
9P13 Microdeletion Syndrome |
|
Precocious puberty, Abnormality of cartilage of external ear, External genital hypoplasia, Thick ... |
ORPHA:324313 |
Chst3-Related Skeletal Dysplasia |
|
Enlarged joints, Kyphoscoliosis, Barrel-shaped chest, Brachydactyly, Irregular epiphyses, Scolios... |
ORPHA:263463 |
Immunodeficiency 57 With Autoinflammation |
|
Gastritis, Skin rash, Chronic lung disease, Inflammation of the large intestine, T lymphocytopeni... |
OMIM:618108 |
Osteogenesis Imperfecta, Type Xxi |
|
Coxa vara, Bowing of the legs, Pectus excavatum, Barrel-shaped chest, Bowing of the arm, Platyspo... |
OMIM:619131 |
Achondrogenesis, Type Ia |
|
Narrow chest, Bowing of the legs, Short clavicles, Stillbirth, Short ribs, Hypoplasia of the radi... |
OMIM:200600 |
Rudiger Syndrome |
|
Ovarian cyst, Death in infancy, Bicornuate uterus, Micropenis |
OMIM:268650 |
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome |
|
Hearing impairment, Precocious puberty, Scoliosis |
ORPHA:457260 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Sprengel anomaly, Rib fusion, Bifid ribs, Pectus excavatum, Narrow chest, Overlapping toe, Beakin... |
OMIM:213980 |
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta |
|
Asymmetry of the thorax, Thin ribs, Epiphyseal streaking, Clinodactyly of the 4th toe, Wormian bo... |
OMIM:604922 |
Meier-Gorlin Syndrome 6 |
|
Tracheobronchomalacia, Recurrent respiratory infections, Emphysema |
OMIM:616835 |
Congenital Pseudoarthrosis Of The Clavicle |
|
Congenital pseudoarthrosis of the clavicle, Osteoarthritis, Cervical ribs |
ORPHA:66630 |
X-Linked Centronuclear Myopathy |
|
Respiratory distress, Recurrent respiratory infections, Pneumonia, Respiratory failure requiring ... |
ORPHA:596 |
Ciliary Dyskinesia With Transposition Of Ciliary Microtubules |
|
Abnormal respiratory motile cilium morphology, Recurrent sinopulmonary infections, Ciliary dyskin... |
OMIM:215520 |
Ciliary Dyskinesia, Primary, 6 |
|
Sinusitis, Recurrent sinusitis, Abnormal respiratory motile cilium morphology, Ciliary dyskinesia... |
OMIM:610852 |
Immunodeficiency 72 With Autoinflammation |
|
Herpes simplex encephalitis, Hepatosplenomegaly, Increased B cell count, Recurrent otitis media, ... |
OMIM:618982 |
Melioidosis |
|
Splenic abscess, Prostatitis, Osteoarthritis, Brain abscess, Abnormality of the spleen, Acute inf... |
ORPHA:31202 |
Achondrogenesis Type 1A |
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Narrow chest, Multiple rib fractures, Short neck, Short foot, Short thorax, Short palm |
ORPHA:93299 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
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Thin ribs, Platyspondyly, Metaphyseal cupping of metacarpals, Abnormality of the calcaneus, Hypop... |
ORPHA:163966 |
Lethal Kniest-Like Dysplasia |
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Narrow chest, Hypoplastic vertebral bodies, Short ribs, Hypoplastic ilia, Flared metaphysis, Shor... |
ORPHA:2347 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
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Chronic oral candidiasis, Lymphopenia, Otitis media, Eosinophilia, Hepatosplenomegaly, Hepatitis,... |
ORPHA:169160 |
Short Stature And Facioauriculothoracic Malformations |
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Pectus excavatum, Short neck, Pectus carinatum, Cervical ribs, Abnormality of the odontoid process |
OMIM:609654 |
Immunodeficiency With Hyper-Igm, Type 4 |
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Osteomyelitis, Recurrent upper respiratory tract infections, Autoimmune thrombocytopenia, Bronchi... |
OMIM:608184 |
Ciliary Dyskinesia, Primary, 43 |
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Recurrent upper respiratory tract infections, Chronic rhinitis, Recurrent lower respiratory tract... |
OMIM:618699 |
Atelosteogenesis Type I |
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Coronal cleft vertebrae, Joint dislocation, Abnormal pancreatic duct morphology, Neonatal short-t... |
ORPHA:1190 |
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1 |
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Crackles, Aplastic anemia, Reticular pattern on pulmonary HRCT, Myeloid leukemia, Decreased DLCO,... |
OMIM:614742 |
Central Precocious Puberty |
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Premature thelarche, Increased circulating gonadotropin level, Isosexual precocious puberty, Prop... |
ORPHA:759 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
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Severe intrauterine growth retardation, Precocious puberty, Gastroesophageal reflux, Constipation... |
ORPHA:96182 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
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Colitis, Hemophagocytosis, Splenomegaly, Recurrent upper respiratory tract infections, Hepatosple... |
OMIM:613101 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
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Cone-shaped epiphyses of the phalanges of the hand, Broad phalanx, Anterior wedging of T11, Platy... |
OMIM:300106 |
Autosomal Dominant Severe Congenital Neutropenia |
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Periodontitis, Lymphopenia, Recurrent sinopulmonary infections, Recurrent skin infections, Eosino... |
ORPHA:486 |
Diarrhea 12, With Microvillus Atrophy |
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Bronchiectasis, Respiratory tract infection |
OMIM:619445 |
Ciliary Dyskinesia With Excessively Long Cilia |
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Sinusitis, Airway obstruction, Nasal polyposis, Chronic rhinitis, Abnormal respiratory motile cil... |
OMIM:242680 |
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
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Brachydactyly, Scoliosis, Fused cervical vertebrae, Short middle phalanx of finger, Abnormal sacr... |
ORPHA:1436 |
Microcephalic Primordial Dwarfism, Toriello Type |
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Abnormal rib morphology, Abnormal epiphysis morphology, Brachydactyly |
ORPHA:2643 |
Osteogenesis Imperfecta, Type Xvi |
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Narrow chest, Multiple rib fractures, Platyspondyly, Angulated humerus, Wormian bones, Bowing of ... |
OMIM:616229 |
Hepatic Adenomas, Familial |
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Polycystic ovaries, Maturity-onset diabetes of the young |
OMIM:142330 |
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
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Supraumbilical raphe, Bifid sternum |
OMIM:140850 |
Sarcoidosis |
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Maculopapular exanthema, Abnormal pleura morphology, Uveitis, Abnormal lung morphology, Abnormal ... |
ORPHA:797 |
Slc35A2-Cdg |
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Sensorineural hearing impairment, Precocious puberty, Gastroesophageal reflux, Feeding difficulti... |
ORPHA:356961 |
Mucolipidosis Iii Alpha/Beta |
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Irregular carpal bones, Soft tissue swelling of interphalangeal joints, Short ribs, Craniosynosto... |
OMIM:252600 |
Adrenal Hypoplasia, Congenital |
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Adrenal insufficiency, Decreased circulating aldosterone level, Precocious puberty, Decreased cir... |
OMIM:300200 |
Cooper-Jabs Syndrome |
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Abnormal hip bone morphology, Camptodactyly of finger, Scoliosis, Abnormal rib morphology, Missin... |
ORPHA:1488 |
Cat-Eye Syndrome |
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Abnormal rib morphology, Hip dysplasia |
ORPHA:195 |
Whim Syndrome 1 |
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Bronchiectasis, Recurrent upper respiratory tract infections, Neutropenia |
OMIM:193670 |
Legionnaires Disease |
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Pulmonary infiltrates, Pancreatitis, Lymphopenia, Splenomegaly, Respiratory insufficiency, Endoca... |
ORPHA:549 |
Pituitary Gigantism |
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Amenorrhea, Pituitary growth hormone cell adenoma, Increased circulating insulin-like growth fact... |
ORPHA:99725 |
Immunodeficiency 102 |
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Neutropenia in presence of anti-neutropil antibodies, Recurrent skin infections, Increased propor... |
OMIM:301082 |
Autosomal Recessive Robinow Syndrome |
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Pectus excavatum, Short neck, Pectus carinatum, Sandal gap, Sacral dimple, Elbow dislocation, Sho... |
ORPHA:1507 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
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Abnormality of the pulmonary artery, Emphysema |
ORPHA:363618 |
Emphysema, Congenital Lobar |
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Respiratory distress, Bronchial cartilage hypoplasia |
OMIM:130710 |
Cardiocranial Syndrome, Pfeiffer Type |
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Episodic tachypnea, Cryptorchidism, Micropenis, Short stature, Hypospadias, Abnormal tracheal mor... |
ORPHA:2872 |
Panbronchiolitis, Diffuse |
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Rhonchi, Crackles, Wheezing, Cough, Bronchiectasis, Hypoxemia |
OMIM:604809 |
Luscan-Lumish Syndrome |
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Advanced ossification of carpal bones, Short stature, Irregular menstruation, Downslanted palpebr... |
OMIM:616831 |
Aicardi Syndrome |
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Bifid ribs, Rib fusion, Butterfly vertebrae, Hemivertebrae, Block vertebrae, Scoliosis, Missing r... |
OMIM:304050 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
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Sprengel anomaly, Cervical C2/C3 vertebral fusion, Short neck, Scoliosis, Fused cervical vertebrae |
OMIM:214300 |
Choanal Atresia |
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Respiratory distress, Feeding difficulties, Craniosynostosis, Tracheomalacia, Cyanosis, Abnormal ... |
ORPHA:137914 |
Baller-Gerold Syndrome |
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Rib fusion, Carpal synostosis, Hypoplasia of the radius, Coronal craniosynostosis, Carpal bone ap... |
OMIM:218600 |
Stuve-Wiedemann Syndrome 2 |
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Respiratory distress, Intrauterine growth retardation, Scoliosis, Neonatal death, Death in adoles... |
OMIM:619751 |
Familial Partial Lipodystrophy, Köbberling Type |
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