Emphysema, Hereditary Pulmonary |
|
Emphysema, Chronic bronchitis |
OMIM:130700 |
Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Vertebral segmentation defect, Rib fusion, Short neck, Vertebral clefting, Hemivertebrae |
OMIM:608681 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Slender finger, Hypoplasia of the odontoid process, Contracture of the proximal interphalangeal j... |
OMIM:609813 |
Mhc Class I Deficiency 1 |
|
Nasal polyposis, Bronchiolitis, Emphysema, Recurrent bronchitis, Chronic sinusitis, Chronic otiti... |
OMIM:604571 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Chronic sinusitis, Recurrent bronchitis, Atelectasis, Otitis media |
OMIM:300455 |
Ciliary Dyskinesia, Primary, 21 |
|
Recurrent pneumonia, Atelectasis, Recurrent otitis media, Chronic sinusitis, Bronchiectasis |
OMIM:615294 |
Ciliary Dyskinesia, Primary, 33 |
|
Recurrent pneumonia, Atelectasis, Recurrent otitis media, Recurrent bronchitis, Chronic rhinitis,... |
OMIM:616726 |
Familial Nasal Acilia |
|
Recurrent upper respiratory tract infections, Atelectasis, Chronic sinusitis, Chronic rhinitis, B... |
ORPHA:922 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Recurrent respiratory infections, Chronic otitis media, Bronchiectasis, Atelectasis |
OMIM:619466 |
Congenital Lobar Emphysema |
|
Emphysema |
ORPHA:1928 |
Spondylocostal Dysostosis 5 |
|
Pectus carinatum, Butterfly vertebrae, Missing ribs, Supernumerary ribs, Short neck, Low back pai... |
OMIM:122600 |
Idiopathic Bronchiectasis |
|
Emphysema, Respiratory tract infection, Acute infectious pneumonia, Recurrent lower respiratory t... |
ORPHA:60033 |
Cervical Rib |
|
Cervical ribs |
OMIM:117900 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosis, Rib fusion, Vertebral segm... |
OMIM:277300 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Emphysema, Ground-glass opacification, Respiratory tract infection, Chronic bronchitis, Diffuse r... |
ORPHA:79127 |
Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
Epidermodysplasia Verruciformis, Susceptibility To, 4 |
|
Emphysema, Increased proportion of exhausted T cells, Stomatitis |
OMIM:618307 |
Allergic Bronchopulmonary Aspergillosis |
|
Emphysema, Abnormal eosinophil morphology, Bronchiectasis |
ORPHA:1164 |
Ciliary Dyskinesia, Primary, 29 |
|
Recurrent respiratory infections, Bronchiectasis, Atelectasis |
OMIM:615872 |
Cutis Laxa, Neonatal, With Marfanoid Phenotype |
|
Emphysema |
OMIM:614100 |
Alpha-1-Antitrypsin Deficiency |
|
Splenomegaly, Bronchiectasis, Panacinar emphysema, Chronic bronchitis |
OMIM:613490 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Pectus carinatum, Finger syndactyly, Radioulnar synostosis, Abnormal rib morphology, Clinodactyly... |
ORPHA:3268 |
Cutis Laxa-Marfanoid Syndrome |
|
Emphysema |
ORPHA:171719 |
Poland Syndrome |
|
Short ribs, Rib fusion, Unilateral oligodactyly, Sprengel anomaly, Hemivertebrae, Unilateral brac... |
OMIM:173800 |
Birt-Hogg-Dubé Syndrome |
|
Emphysema, Pneumothorax, Pulmonary sequestration |
ORPHA:122 |
Sarcoidosis, Susceptibility To, 2 |
|
Emphysema, Pleural effusion, Splenomegaly, Pulmonary infiltrates, Pneumothorax, Erythema nodosum,... |
OMIM:612387 |
Autosomal Dominant Spondylocostal Dysostosis |
|
Abnormal sacrum morphology, Short thorax, Vertebral segmentation defect, Missing ribs, Short neck... |
ORPHA:1797 |
Bronchopulmonary Dysplasia |
|
Emphysema, Abnormal lung morphology, Pulmonary sequestration, Atelectasis |
ORPHA:70589 |
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification |
|
Emphysema |
OMIM:210050 |
Immunodeficiency 51 |
|
Pneumonia, Folliculitis, Eczematoid dermatitis, Chronic mucocutaneous candidiasis, Cutaneous absc... |
OMIM:613953 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Abnormally low T cell receptor excision circle level, Recurrent pneumonia, Eczematoid dermatitis,... |
OMIM:242700 |
C1Q Deficiency 2 |
|
Discoid lupus rash, Atelectasis, Recurrent otitis media, Malar rash, Chilblains, Arthritis, Anemi... |
OMIM:620321 |
Tracheobronchopathia Osteochondroplastica |
|
Pneumonia, Recurrent pneumonia, Bronchitis, Atelectasis, Tracheal calcification, Calcification of... |
ORPHA:3348 |
Spondylometaphyseal Dysplasia, Type A4 |
|
Platyspondyly, Pectus carinatum, Irregular patellae, Hypoplasia of the capital femoral epiphysis,... |
OMIM:609052 |
Spondylometaphyseal Dysplasia, Corner Fracture Type |
|
Pectus carinatum, Hypoplasia of the odontoid process, Short femoral neck, Corner fracture of meta... |
OMIM:184255 |
Respiratory Distress Syndrome In Premature Infants |
|
Pulmonary edema, Atelectasis |
OMIM:267450 |
Becker Nevus Syndrome |
|
Pectus carinatum, Abnormal tibia morphology, Supernumerary ribs, Rib fusion, Pectus excavatum, Sp... |
ORPHA:64755 |
Heart Defects-Limb Shortening Syndrome |
|
Narrow chest, Abnormal form of the vertebral bodies, Abnormal rib morphology, Abnormal metaphysis... |
ORPHA:1354 |
Pulmonary Blastoma |
|
Recurrent pneumonia, Pleuropulmonary blastoma, Pulmonary infiltrates |
ORPHA:64741 |
Sprengel Deformity |
|
Rib segmentation abnormalities, Sprengel anomaly, Hemivertebrae, Spina bifida occulta, Cervical s... |
OMIM:184400 |
Pulmonary Nodular Lymphoid Hyperplasia |
|
Ground-glass opacification, Nodular pattern on pulmonary HRCT, Plasmacytosis |
ORPHA:60026 |
Thoracolaryngopelvic Dysplasia |
|
Hypoplastic iliac wing, Hypoplastic pelvis, Bell-shaped thorax, Horizontal ribs, Short ribs, Meta... |
OMIM:187760 |
Endosteal Hyperostosis, Worth Type |
|
Sclerotic vertebral body, Abnormal form of the vertebral bodies, Clavicular sclerosis, Diaphyseal... |
ORPHA:2790 |
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Abnormal rib morphology |
ORPHA:2435 |
Spondylometaphyseal Dysplasia, A4 Type |
|
Platyspondyly, Coxa vara, Short palm, Flared, irregular rib ends |
ORPHA:168555 |
Ciliary Dyskinesia, Primary, 1 |
|
Pneumonia, Nasal polyposis, Bronchiectasis, Atelectasis, Recurrent bronchitis, Chronic sinusitis,... |
OMIM:244400 |
Mounier-Kühn Syndrome |
|
Pneumonia, Bronchitis, Tracheal stenosis, Recurrent bronchopulmonary infections, Tracheobronchmeg... |
ORPHA:3347 |
Meconium Aspiration Syndrome |
|
Transient pulmonary infiltrates, Atelectasis, Aspiration pneumonia, Pneumothorax, Abnormal pulmon... |
ORPHA:70588 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Block vertebrae, Abnormal odontoid process morphology, Bell-shaped thorax, Vertebral segmentation... |
OMIM:613686 |
Femoral-Facial Syndrome |
|
Aplasia/Hypoplasia of the tibia, Abnormal pelvic girdle bone morphology, Abnormal sacrum morpholo... |
ORPHA:1988 |
Autosomal Dominant Brachyolmia |
|
Platyspondyly, Increased vertebral height, Kyphoscoliosis, Short thorax, Abnormal metaphysis morp... |
ORPHA:93304 |
Kyphomelic Dysplasia |
|
Narrow chest, Abnormal form of the vertebral bodies, Undulate ribs, Missing ribs, Bowing of the l... |
ORPHA:1801 |
Acute Interstitial Pneumonia |
|
Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thickening, Ground-gl... |
ORPHA:79126 |
Jung Syndrome |
|
Abnormal form of the vertebral bodies, Tracheal stenosis, Telecanthus, Hypothyroidism, Recurrent ... |
ORPHA:2321 |
Hypophosphatasia |
|
Emphysema, Anemia |
ORPHA:436 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
Pneumonia, Atopic dermatitis, Recurrent upper respiratory tract infections, Abnormally low T cell... |
OMIM:618806 |
Bronchiectasis With Or Without Elevated Sweat Chloride 3 |
|
Bronchiectasis, Chronic bronchitis |
OMIM:613071 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Atopic dermatitis, Atelectasis, Hypereosinophilia, Pleural effusion, Parenchymal consolidation, L... |
ORPHA:2902 |
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies |
|
Abnormality of the cervical spine, Superior rib anomalies |
OMIM:307500 |
Mesomelic Dysplasia, Kantaputra Type |
|
Ulnar deviation of finger, Abnormality of the ankle, Synostosis of carpal bones, Camptodactyly of... |
ORPHA:1836 |
Immunodeficiency 13 |
|
Recurrent upper respiratory tract infections, Recurrent pneumonia, Nasal polyposis, Recurrent oti... |
OMIM:615518 |
Fanconi Renotubular Syndrome 5 |
|
Emphysema, Pulmonary fibrosis, Lung adenocarcinoma |
OMIM:618913 |
Alpha-1-Antitrypsin Deficiency |
|
Hepatitis, Bronchitis, Emphysema, Panniculitis, Bronchiectasis |
ORPHA:60 |
Idiopathic Achalasia |
|
Recurrent aspiration pneumonia, Bronchitis |
ORPHA:930 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Emphysema, Lymphopenia, Thrombocytopenia, Anemia, Pulmonary fibrosis |
OMIM:620365 |
Bronchogenic Cyst |
|
Pneumonia, Pulmonary cyst, Bronchogenic cyst, Atelectasis, Abnormal pleura morphology, Abnormal p... |
ORPHA:2357 |
Asbestos Intoxication |
|
Abnormal pulmonary interstitial morphology, Atelectasis, Interlobular septal thickening, Ground-g... |
ORPHA:2302 |
Ciliary Dyskinesia, Primary, 42 |
|
Pneumonia, Nasal polyposis, Recurrent sinusitis, Chronic rhinitis, Bronchiectasis |
OMIM:618695 |
Infant Acute Respiratory Distress Syndrome |
|
Pneumonia, Pulmonary edema, Respiratory tract infection, Atelectasis |
ORPHA:70587 |
Recurrent Respiratory Papillomatosis |
|
Abnormal lung morphology, Recurrent upper respiratory tract infections, Recurrent pneumonia, Atel... |
ORPHA:60032 |
Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Aspiration pneumonia |
OMIM:619477 |
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Narrow chest, Postaxial foot polydactyly, Acetabular spurs, Horizontal ribs, Short ribs, Brachyda... |
OMIM:617405 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Tracheal atresia, Bilateral lung agenesis, Neonatal death |
OMIM:601612 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Crazy paving pattern, Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Intraalv... |
OMIM:610921 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Finger syndactyly, Abnormal form of the vertebral bodies, Camptodactyly of finger, Short thorax, ... |
ORPHA:2311 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Bronchiolitis, Atelectasis, Pulmonary fibrosis |
ORPHA:254361 |
Metatropic Dysplasia |
|
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Caudal appendage, Genu valgum, Flat ace... |
OMIM:156530 |
Combined Immunodeficiency, X-Linked |
|
Pneumonia, Abnormal T cell count, Decreased proportion of CD8-positive T cells, Decreased proport... |
OMIM:312863 |
Immunodeficiency 104 |
|
Pneumonia, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Recurrent otitis media, Otit... |
OMIM:608971 |
Young Syndrome |
|
Bronchiectasis, Congenital pulmonary airway malformation, Recurrent sinopulmonary infections, Rec... |
OMIM:279000 |
Ciliary Dyskinesia, Primary, 9 |
|
Pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic rhinitis, Chronic sinusitis, Chro... |
OMIM:612444 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type |
|
Platyspondyly, Pectus carinatum, Broad femoral neck, Lumbar hyperlordosis, Genu valgum, Thoracic ... |
OMIM:609223 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Platyspondyly, Hypoplastic iliac wing, Enlarged epiphyses of the phalanges of the hand, Lumbar hy... |
OMIM:609616 |
Acromesomelic Dysplasia, Maroteaux Type |
|
Abnormal form of the vertebral bodies, Vertebral wedging, Bowing of the long bones, Beaking of ve... |
ORPHA:40 |
Metatropic Dysplasia |
|
Narrow chest, Scoliosis, Coarse metaphyseal trabecularization, Hypoplastic cervical vertebrae, Ab... |
ORPHA:2635 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Pneumonia, Plasmacytosis, Lymphopenia, Autoimmune hemolytic anemia, Glomerulonephritis |
OMIM:247800 |
Bronchiolitis Obliterans |
|
Pneumonia, Ground-glass opacification, Respiratory tract infection, Bronchiolitis obliterans, Bro... |
ORPHA:1303 |
Muscular Hypertonia, Lethal |
|
Pneumonia |
OMIM:254120 |
Immunodeficiency 89 And Autoimmunity |
|
Crohn's disease, Pulmonary bulla, Hypochromic microcytic anemia, Pleural thickening, Recurrent lo... |
OMIM:619632 |
Acropectorovertebral Dysplasia |
|
Abnormal vertebral morphology, Broad thumb, Toe syndactyly, Short thumb, Synostosis of carpal bon... |
OMIM:102510 |
Primary Ciliary Dyskinesia |
|
Nasal polyposis, Atelectasis, Polysplenia, Recurrent otitis media, Pulmonary situs ambiguus, Resp... |
ORPHA:244 |
Hypomandibular Faciocranial Dysostosis |
|
Low-set ears, Downslanted palpebral fissures, Abnormal morphology of female internal genitalia, T... |
ORPHA:1790 |
Common Variable Immunodeficiency |
|
Pneumonia, Chronic otitis media, Emphysema, Lymphopenia, Recurrent bronchitis, Otitis media, Sple... |
ORPHA:1572 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Platyspondyly, Pectus carinatum, Broad femoral neck, Hypoplastic sacrum, Upper limb undergrowth, ... |
OMIM:271650 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Cervical kyphosis, Hypoplastic cervical vertebrae, Gastroesophageal reflux, Tracheal calcificatio... |
ORPHA:79345 |
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus |
|
Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Absent central microtubular pai... |
OMIM:620032 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Precocious puberty, Low-set ears, Aplasia/Hypoplasia of the earlobes, Disproportionate short stat... |
ORPHA:2637 |
Tracheal Agenesis |
|
Tracheal atresia, Aplasia/Hypoplasia of the lungs |
ORPHA:3346 |
Keutel Syndrome |
|
Hearing impairment, Recurrent otitis media, Calcification of cartilage, Recurrent sinusitis, Trac... |
ORPHA:85202 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Abnormal vertebral morphology, Radial metaphyseal irregularity, Anterior rib cupping, Genu varum,... |
ORPHA:174 |
Brachyolmia, Maroteaux Type |
|
Platyspondyly, Abnormal form of the vertebral bodies, Short thorax, Pectus excavatum, Scoliosis |
ORPHA:93302 |
Fibrochondrogenesis 2 |
|
Platyspondyly, Hypoplastic ilia, Metaphyseal cupping, Thoracic hypoplasia, Bell-shaped thorax, Sh... |
OMIM:614524 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Atelectasis, Cystic pattern on pulmonary HRCT, Ground-glass opacification, Parenchymal consolidat... |
OMIM:610978 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Platyspondyly, Metaphyseal spurs, Posterior rib cupping, Thoracic hypoplasia, Irregular epiphyses... |
OMIM:608728 |
Spondylometaphyseal Dysplasia, Axial |
|
Platyspondyly, Narrow chest, Thoracic hypoplasia, Proximal femoral metaphyseal irregularity, Narr... |
OMIM:602271 |
Netherton Syndrome |
|
Eczematoid dermatitis, Emphysema, Skin rash, Erythroderma, Recurrent respiratory infections |
ORPHA:634 |
Spondyloepiphyseal Dysplasia Tarda, Kohn Type |
|
Platyspondyly, Abnormal ilium morphology, Abnormal vertebral morphology, Abnormality of the ankle... |
ORPHA:163665 |
Anaplastic Thyroid Carcinoma |
|
Laryngotracheal stenosis, Goiter, Respiratory distress, Nodular goiter, Tracheoesophageal fistula... |
ORPHA:142 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Kyphosis, Decreased testicular size, Hyperinsulinemia, Type II diabetes mellitus, Cryptorchidism,... |
ORPHA:3085 |
Becker Nevus Syndrome |
|
Pectus excavatum, Scoliosis, Hemivertebrae, Cervical ribs |
OMIM:604919 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Platyspondyly, Pectus carinatum, Synostosis of carpal bones, Abnormal epiphysis morphology, Abnor... |
ORPHA:93351 |
Ciliary Dyskinesia, Primary, 28 |
|
Recurrent otitis media, Dynein arm defect of respiratory motile cilia, Recurrent sinusitis, Chron... |
OMIM:615505 |
Osteogenesis Imperfecta, Type Ix |
|
Platyspondyly, Pectus carinatum, Multiple rib fractures, Wormian bones, Pectus excavatum, Short l... |
OMIM:259440 |
Ciliary Dyskinesia, Primary, 11 |
|
Abnormal central microtubular pair morphology of respiratory motile cilia, Recurrent sinusitis, C... |
OMIM:612649 |
Vacterl/Vater Association |
|
Multicystic kidney dysplasia, Bifid scrotum, Abnormal morphology of female internal genitalia, Lo... |
ORPHA:887 |
Bardet-Biedl Syndrome 16 |
|
Bronchiolitis, Hearing impairment, Respiratory distress, Hypogonadism, Recurrent otitis media, Ex... |
OMIM:615993 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Thin ribs, Platyspondyly, Multiple joint dislocation, Short femoral neck, Knee dislocation, Narro... |
OMIM:618395 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Premature adrenarche, Small scrotum, Decreased circulating T4 concentration, Central adrenal insu... |
ORPHA:98754 |
Waardenburg Syndrome Type 3 |
|
Atelectasis |
ORPHA:896 |
Microlissencephaly |
|
Pneumonia |
ORPHA:1083 |
Familial Hyperprolactinemia |
|
Hemorrhagic ovarian cyst, Infertility, Amenorrhea, Oligomenorrhea, Female hypogonadism, Menorrhagia |
ORPHA:397685 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Hypocomplementemic Urticarial Vasculitis |
|
Emphysema, Episcleritis, Pleural effusion, Skin rash, Splenomegaly, Arthritis, Inflammatory abnor... |
ORPHA:36412 |
Ciliary Dyskinesia, Primary, 45 |
|
Absent inner and outer dynein arms, Recurrent respiratory infections, Bronchiectasis, Chronic rhi... |
OMIM:618801 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Premature adrenarche, Small scrotum, Decreased circulating T4 concentration, Central adrenal insu... |
ORPHA:98793 |
Interstitial Lung Disease 1 |
|
Usual interstitial pneumonia, Intralobular septal thickening, Interlobular septal thickening, Gro... |
OMIM:619611 |
Isolated Klippel-Feil Syndrome |
|
Abnormality of the vertebral column, Abnormal shoulder morphology, Cervical C2/C3 vertebral fusio... |
ORPHA:2345 |
Idiopathic Acute Eosinophilic Pneumonia |
|
Abnormal pleura morphology, Abnormal eosinophil morphology, Pulmonary infiltrates |
ORPHA:724 |
Granulomatosis With Polyangiitis |
|
Diffuse alveolar hemorrhage, Nasal mucosa vasculitis, Tracheal stenosis, Subglottic stenosis, Pul... |
OMIM:608710 |
Pendred Syndrome |
|
Hyperparathyroidism, Goiter, Tracheal stenosis, Thyroid carcinoma, Sensorineural hearing impairme... |
ORPHA:705 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Premature adrenarche, Small scrotum, Decreased circulating T4 concentration, Central adrenal insu... |
ORPHA:177904 |
Tetraamelia-Multiple Malformations Syndrome |
|
Multicystic kidney dysplasia, Abnormal lung lobation, Tracheal stenosis, Cryptorchidism, Aplasia/... |
ORPHA:3301 |
Brachyolmia Type 1, Toledo Type |
|
Abnormal odontoid process morphology, Precocious costochondral ossification, Lumbar hyperlordosis... |
OMIM:271630 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Premature adrenarche, Small scrotum, Decreased circulating T4 concentration, Central adrenal insu... |
ORPHA:177901 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Vertebral segmentation defect, Short neck, Abnormal rib morphology |
ORPHA:2578 |
Epiphyseal Dysplasia, Multiple, 6 |
|
Arthralgia of the hip, Schmorl's node, Irregular epiphyses, Small epiphyses, Flat distal femoral ... |
OMIM:614135 |
Brachyolmia Type 1, Hobaek Type |
|
Platyspondyly, Pectus carinatum, Short iliac bones, Flattened proximal radial epiphyses, Kyphosis... |
OMIM:271530 |
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes |
|
Platyspondyly, Kyphoscoliosis, Lumbar scoliosis, Premature pubarche, Short stature, Secondary ame... |
OMIM:612847 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Abnormal vertebral morphology, Platyspondyly, Severe short stature, Disproportionate short statur... |
ORPHA:93352 |
Pulmonary Hypoplasia, Primary |
|
Pulmonary hypoplasia |
OMIM:265430 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Thin ribs, Block vertebrae, Supernumerary vertebrae, Short ribs, Missing ribs, Rib fusion, Short ... |
OMIM:271520 |
Renal Hypodysplasia/Aplasia 4 |
|
Pulmonary hypoplasia |
OMIM:619887 |
Diaphanospondylodysostosis |
|
Enlarged thorax, Absent or minimally ossified vertebral bodies, Missing ribs, Short neck, Short t... |
ORPHA:66637 |
Acrocapitofemoral Dysplasia |
|
Pectus carinatum, Cone-shaped metacarpal epiphyses, Cone-shaped epiphysis, Abnormal femoral neck ... |
ORPHA:63446 |
Tracheobronchomegaly |
|
Recurrent bronchopulmonary infections, Bronchiectasis |
OMIM:275300 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Premature adrenarche, Small scrotum, Xerostomia, Absence of pubertal development, Type II diabete... |
ORPHA:398079 |
Trisomy X |
|
Precocious puberty, Multicystic kidney dysplasia, Upslanted palpebral fissure, Epicanthus, Abdomi... |
ORPHA:3375 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Platyspondyly, Pectus carinatum, Hypoplasia of the odontoid process, Scoliosis, Clinodactyly, Gen... |
OMIM:184250 |
Renal Hypodysplasia/Aplasia 2 |
|
Pulmonary hypoplasia |
OMIM:615721 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Pear-shaped vertebrae, Platyspondyly, Metaphyseal cupping, Radial bowing, Flared metaphysis, Irre... |
OMIM:602111 |
Geleophysic Dysplasia 3 |
|
Pneumonia, Tracheal stenosis, Subglottic stenosis, Limited elbow movement, Dyspnea, Short stature... |
OMIM:617809 |
Hurler-Scheie Syndrome |
|
Growth delay, Camptodactyly of finger, Tracheal stenosis, Contracture of the distal interphalange... |
OMIM:607015 |
Immunodeficiency 95 |
|
Recurrent viral pneumonia, Ground-glass opacification, Lymphopenia, Recurrent viral upper respira... |
OMIM:619773 |
Cerebrofaciothoracic Dysplasia |
|
Narrow chest, Vertebral segmentation defect, Rib fusion, Short neck, Sprengel anomaly, Bifid ribs... |
ORPHA:1394 |
Whim Syndrome |
|
Pneumonia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Lymphadenitis, Atel... |
ORPHA:51636 |
Immunodeficiency 48 |
|
Pneumonia, Eczematoid dermatitis, Abnormal B cell count, Splenomegaly, Impaired lymphocyte transf... |
OMIM:269840 |
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome |
|
Aspiration pneumonia |
OMIM:609528 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Hypoplasia of the odontoid process, Carpal bone hypoplasia, Short neck, Irregular capital femoral... |
OMIM:184252 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hyperinsulinemia, Reduced subcutaneous adipose tissue, Polycystic ovaries, Oligomenorrhea, Abnorm... |
ORPHA:280356 |
Prader-Willi Syndrome |
|
Premature adrenarche, Small scrotum, Xerostomia, Central adrenal insufficiency, Cryptorchidism, H... |
ORPHA:739 |
Thanatophoric Dysplasia, Type Ii |
|
Small abnormally formed scapulae, Hypoplastic ilia, Platyspondyly, Narrow chest, Flared metaphysi... |
OMIM:187601 |
Ciliary Dyskinesia, Primary, 15 |
|
Abnormal axonemal organization of respiratory motile cilia, Recurrent pneumonia, Nasal polyposis,... |
OMIM:613808 |
Functioning Gonadotropic Adenoma |
|
Ovarian cyst, Oligozoospermia, Decreased response to growth hormone stimulation test, Decreased f... |
ORPHA:91348 |
Axial Spondylometaphyseal Dysplasia |
|
Abnormal ilium morphology, Hypoplastic iliac wing, Abnormal metacarpal morphology, Flat acetabula... |
ORPHA:168549 |
Isolated Congenital Hypoglossia/Aglossia |
|
Aspiration pneumonia |
ORPHA:141152 |
Ciliary Dyskinesia, Primary, 20 |
|
Recurrent pneumonia, Atelectasis, Recurrent otitis media, Recurrent sinusitis, Pulmonary artery s... |
OMIM:615067 |
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis |
|
Decreased response to growth hormone stimulation test, Congenital hypothyroidism, Tracheal stenos... |
OMIM:601427 |
Xp22.3 Microdeletion Syndrome |
|
Decreased fertility, Polycystic ovaries, Hypogonadotropic hypogonadism, Short stature, Secondary ... |
ORPHA:1643 |
Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Delayed epiphyseal ossification, Abnormal vertebral morphology, Clinodactyly, Genu valgum, Cutane... |
ORPHA:166024 |
Meier-Gorlin Syndrome 4 |
|
Emphysema |
OMIM:613804 |
Kuskokwim Syndrome |
|
Aplasia/Hypoplasia of the radius, Abnormal clavicle morphology, Abnormal form of the vertebral bo... |
ORPHA:1149 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Elevated circulating luteinizing hormone level, Absence of pubertal development, Decreased fertil... |
ORPHA:90793 |
Ciliary Dyskinesia, Primary, 13 |
|
Recurrent otitis media, Recurrent bronchitis, Recurrent sinusitis, Absent inner dynein arms, Bron... |
OMIM:613193 |
Immunodeficiency 75 With Lymphoproliferation |
|
Recurrent respiratory infections, Hepatosplenomegaly, Decreased proportion of class-switched memo... |
OMIM:619126 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Small scrotum, Xerostomia, Absence of pubertal development, Type II diabetes mellitus, Cryptorchi... |
ORPHA:398069 |
Pulmonary Hemosiderosis |
|
Iron deficiency anemia, Pulmonary fibrosis, Recurrent intrapulmonary hemorrhage, Transient pulmon... |
OMIM:178550 |
Prader-Willi Syndrome |
|
Small scrotum, Hyperinsulinemia, Genu valgum, Type II diabetes mellitus, Cryptorchidism, Chronic ... |
OMIM:176270 |
Ciliary Dyskinesia, Primary, 19 |
|
Nasal polyposis, Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis, Rhinitis, Absen... |
OMIM:614935 |
Ciliary Dyskinesia, Primary, 41 |
|
Recurrent otitis media, Bronchiectasis, Recurrent sinusitis |
OMIM:618449 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Short palpebral fissure, Tracheomalacia, Respiratory distress, Tracheal stenosis, Telecanthus, Cr... |
OMIM:217980 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Abnormal form of the vertebral bodies, Abnormality of the humeroulnar joint, Short neck, Hemivert... |
ORPHA:2234 |
Ciliary Dyskinesia, Primary, 23 |
|
Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis, Chronic rhi... |
OMIM:615451 |
Jeune Syndrome |
|
Abnormal pelvic girdle bone morphology, Toe syndactyly, Postaxial foot polydactyly, Cone-shaped e... |
ORPHA:474 |
Craniodiaphyseal Dysplasia |
|
Diaphyseal undertubulation, Abnormal rib morphology |
ORPHA:1513 |
Myotubular Myopathy With Abnormal Genital Development |
|
Atelectasis, Bilateral cryptorchidism, Respiratory distress, Glandular hypospadias, Bifid scrotum... |
OMIM:300219 |
Symbrachydactyly Of Hands And Feet |
|
Aplasia/Hypoplasia of the radius, Abnormality of the humeroulnar joint, Abnormal morphology of ul... |
ORPHA:1570 |
Ataxia-Telangiectasia |
|
Aplasia/Hypoplasia of the thymus, Premature graying of hair, Type II diabetes mellitus, Polycysti... |
ORPHA:100 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Male hypogonadism, Decreased circulating dihydrotestosterone concentration, Abnormality of the Le... |
OMIM:228300 |
Granulomatous Disease, Chronic, X-Linked |
|
Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Atelectasis, Granu... |
OMIM:306400 |
Ciliary Dyskinesia, Primary, 26 |
|
Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis, Rhinitis, Recurrent respiratory ... |
OMIM:615500 |
Ciliary Dyskinesia, Primary, 17 |
|
Recurrent otitis media, Dynein arm defect of respiratory motile cilia, Chronic sinusitis, Chronic... |
OMIM:614679 |
Diastrophic Dysplasia |
|
Laryngotracheal stenosis, Neonatal short-limb short stature, Cervical kyphosis, Hypoplastic cervi... |
OMIM:222600 |
Eosinophilia, Familial |
|
Leukocytosis, Recurrent bronchitis, Pulmonary infiltrates, Eosinophilia, Thrombocytopenia, Anemia |
OMIM:131400 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Sparse eyebrow, Rhizomelia, Hearing impairment, Tracheal calcification, Downslanted palpebral fis... |
OMIM:302960 |
Infantile Osteopetrosis With Neuroaxonal Dysplasia |
|
Pneumonia |
ORPHA:85179 |
Bronchiectasis With Or Without Elevated Sweat Chloride 2 |
|
Bronchiectasis, Recurrent bronchiolitis, Chronic bronchitis |
OMIM:613021 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Abnormal pulmonary interstitial morphology, Atelectasis, Recurrent otitis media, Ground-glass opa... |
OMIM:620233 |
Igg4-Related Thyroid Disease |
|
Graves disease, Euthyroid goiter, Goiter, Tracheal stenosis, Sialadenitis, Hashimoto thyroiditis,... |
ORPHA:64744 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Platyspondyly, Narrow chest, Abnormal epiphysis morphology, Abnormal clavicle morphology, Abnorma... |
ORPHA:93267 |
Dyggve-Melchior-Clausen Disease |
|
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Genu valgum, Short neck, Beaking of ver... |
ORPHA:239 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Pneumonia, Atopic dermatitis, Ulcerative colitis, Colonic eosinophilia, Eosinophilia, Bronchiectasis |
OMIM:617638 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Narrow chest, Thoracic dysplasia, Bell-shaped thorax, Horizontal ribs, Postaxial polydactyly, Bra... |
OMIM:615633 |
Osteogenesis Imperfecta, Type Xv |
|
Thin ribs, Platyspondyly, Scoliosis |
OMIM:615220 |
19P13.3 Microduplication Syndrome |
|
Precocious puberty, Low-set ears, Gastroesophageal reflux, Growth delay, Downslanted palpebral fi... |
ORPHA:447980 |
Pontine Tegmental Cap Dysplasia |
|
Rib fusion, Scoliosis, Hemivertebrae, Ankle clonus |
OMIM:614688 |
Immunodeficiency 116 |
|
Recurrent respiratory infections, Bronchiectasis, Absence of CD8-positive T cells |
OMIM:608957 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Precocious puberty, Downslanted palpebral fissures, Low-set, posteriorly rotated ears, Hypogonadi... |
ORPHA:3306 |
Ciliary Dyskinesia, Primary, 34 |
|
Recurrent bronchitis, Recurrent sinusitis, Chronic rhinitis, Absent central microtubular pair mor... |
OMIM:617091 |
Juberg-Hayward Syndrome |
|
Abnormal vertebral morphology, Toe syndactyly, Short thumb, Abnormality of the wrist, Radioulnar ... |
ORPHA:2319 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Pneumonia, Reduction of neutrophil motility, Bronchiolitis, Periodontitis, Recurrent otitis media... |
OMIM:266265 |
Fraser Syndrome 3 |
|
Low-set ears, Small scrotum, Abnormal lung lobation, Cryptophthalmos, Tracheal atresia, Simple ea... |
OMIM:617667 |
Ciliary Dyskinesia, Primary, 30 |
|
Nasal polyposis, Recurrent otitis media, Chronic sinusitis, Chronic bronchitis, Recurrent respira... |
OMIM:616037 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormal clavicle morphology, Abnormal hip bone morphology, Short neck, Hyperlordosis, Abnormal r... |
ORPHA:2522 |
Ciliary Dyskinesia, Primary, 44 |
|
Bronchiectasis, Recurrent sinusitis, Otitis media |
OMIM:618781 |
Ciliary Dyskinesia, Primary, 5 |
|
Recurrent pneumonia, Nasal polyposis, Recurrent otitis media, Recurrent sinusitis, Chronic bronch... |
OMIM:608647 |
Ciliary Dyskinesia, Primary, 39 |
|
Recurrent otitis media, Recurrent lower respiratory tract infections, Bronchiectasis |
OMIM:618254 |
Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
|
Abnormal pelvic girdle bone morphology, Slender long bone, Abnormal rib morphology |
ORPHA:1506 |
Schneckenbecken Dysplasia |
|
Platyspondyly, Hypoplastic scapulae, Narrow chest, Thoracic hypoplasia, Stillbirth, Advanced tars... |
OMIM:269250 |
Thoracic Dysostosis, Isolated |
|
Pectus excavatum, Bell-shaped thorax, Short ribs |
OMIM:187750 |
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
|
Precocious puberty, Ptosis, Hypergonadotropic hypogonadism, Polycystic ovaries |
ORPHA:2229 |
Thoracomelic Dysplasia |
|
Abnormal pelvic girdle bone morphology, Narrow chest, Elbow dislocation, Genu valgum, Bell-shaped... |
ORPHA:1803 |
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Long hallux, Hypoplastic iliac wing, Genu valgum, Delayed pubic bone ossification, Short neck, Me... |
OMIM:613330 |
Immunodeficiency, Common Variable, 1 |
|
Pneumonia, Recurrent pneumonia, Abnormal T cell count, Recurrent otitis media, Recurrent bronchit... |
OMIM:607594 |
Ciliary Dyskinesia, Primary, 46 |
|
Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis |
OMIM:619436 |
Myotonia With Skeletal Abnormalities And Impaired Intellectual Development |
|
Pectus carinatum, Vertebral wedging, Irregular femoral epiphysis, Genu valgum, Bell-shaped thorax... |
OMIM:255710 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Premature adrenarche, Clitoral hypertrophy, Decreased circulating renin level, Polycystic ovaries... |
ORPHA:90795 |
Ciliary Dyskinesia, Primary, 27 |
|
Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis, Chronic sinusitis, Rhinitis, Rec... |
OMIM:615504 |
Ciliary Dyskinesia, Primary, 35 |
|
Recurrent pneumonia, Bronchiectasis, Nasal polyposis, Chronic sinusitis, Chronic rhinitis, Chroni... |
OMIM:617092 |
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency |
|
Eczematoid dermatitis, Atelectasis, Osteomyelitis, Skin rash, Eosinophilia, Recurrent respiratory... |
ORPHA:2314 |
Cortisone Reductase Deficiency 1 |
|
Precocious puberty, Infertility, Oligomenorrhea |
OMIM:604931 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Pneumonia, Otitis media, Purulent rhinitis, Arthritis, B lymphocytopenia, Conjunctivitis, T lymph... |
OMIM:601457 |
Thoracomelic Dysplasia |
|
Bell-shaped thorax, Short ribs |
OMIM:273740 |
Ciliary Dyskinesia, Primary, 32 |
|
Absent respiratory ciliary axoneme radial spokes, Recurrent otitis media, Chronic sinusitis, Chro... |
OMIM:616481 |
Microcephaly 30, Primary, Autosomal Recessive |
|
Tracheal stenosis, Intrauterine growth retardation, Long palpebral fissure, Epicanthus, Uplifted ... |
OMIM:620183 |
Osteoarthritis With Mild Chondrodysplasia |
|
Platyspondyly, Hip osteoarthritis, Schmorl's node, Knee osteoarthritis, Beaking of vertebral bodi... |
OMIM:604864 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Posterior rib gap, Small hand, Shallow acetabular fossae, Ulnar deviation of finger, Broad femora... |
OMIM:611209 |
Rigid Spine Syndrome |
|
Pneumonia |
ORPHA:97244 |
Temple Syndrome |
|
Precocious puberty, Nasogastric tube feeding, Decreased response to growth hormone stimulation te... |
ORPHA:254516 |
Pseudoachondroplasia |
|
Delayed epiphyseal ossification, Atlantoaxial dislocation, Hypoplasia of the odontoid process, Ra... |
OMIM:177170 |
Pulmonary Alveolar Proteinosis, Acquired |
|
Pneumonia, Intraalveolar phospholipid accumulation, Brain abscess, Lung abscess, Recurrent respir... |
OMIM:610910 |
Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Recurrent respiratory infections, Chronic otitis media, Bronchiectasis, Recurrent sinusitis |
OMIM:300991 |
Holt-Oram Syndrome |
|
Broad thumb, Aplasia/Hypoplasia of the radius, Finger syndactyly, Absent thumb, Kyphosis, Abnorma... |
ORPHA:392 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Abnormal form of the vertebral bodies, Slender long bone, Abnormal hip bone morphology, Short nec... |
ORPHA:1486 |
Ciliary Dyskinesia, Primary, 16 |
|
Bronchiectasis, Chronic sinusitis, Chronic rhinitis, Chronic otitis media, Absent outer dynein arms |
OMIM:614017 |
Idiopathic Pulmonary Fibrosis |
|
Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Ground-glass opacification, Ho... |
ORPHA:2032 |
Cutis Laxa, Autosomal Recessive, Type Ia |
|
Emphysema, Peripheral pulmonary artery stenosis, Recurrent respiratory infections |
OMIM:219100 |
Bronchiectasis With Or Without Elevated Sweat Chloride 1 |
|
Bronchiectasis, Chronic bronchitis |
OMIM:211400 |
Gorlin Syndrome |
|
Abnormal vertebral morphology, Vertebral wedging, Arachnodactyly, Rib fusion, Brachydactyly, Ante... |
ORPHA:377 |
Diastrophic Dysplasia |
|
Ulnar deviation of finger, Scoliosis, Joint dislocation, Elbow dislocation, Abnormal epiphysis mo... |
ORPHA:628 |
Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Splenomegaly, Diffuse reticular or finely nodular infiltrations, Thromboc... |
OMIM:607616 |
Ciliary Dyskinesia, Primary, 12 |
|
Bronchiectasis, Abnormal central microtubular pair morphology of respiratory motile cilia, Chroni... |
OMIM:612650 |
Cutis Laxa, Autosomal Dominant 1 |
|
Emphysema, Peripheral pulmonary artery stenosis, Bronchiectasis |
OMIM:123700 |
Ciliary Dyskinesia, Primary, 7 |
|
Abnormal axonemal organization of respiratory motile cilia, Recurrent pneumonia, Recurrent otitis... |
OMIM:611884 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Thin ribs, Radial bowing, Short neck, Flat acetabular roof, Hypoplastic ischia, Ovoid vertebral b... |
OMIM:151210 |
Smith-Lemli-Opitz Syndrome |
|
Multicystic kidney dysplasia, Clitoral hypertrophy, Cutis marmorata, Cryptorchidism, Sensorineura... |
ORPHA:818 |
Ciliary Dyskinesia, Primary, 14 |
|
Abnormal axonemal organization of respiratory motile cilia, Recurrent pneumonia, Polysplenia, Oti... |
OMIM:613807 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Intercrural pterygium, Dysplastic patella, Patellar aplasia, Arachnodactyly, Short neck, Thoracol... |
OMIM:265000 |
Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Precocious puberty, Increased circulating prolactin concentration, Hypopituitarism, Decreased res... |
ORPHA:91354 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Recurrent sinopulmonary infections, Increased proportion of transitional B cells, D... |
OMIM:615513 |
Frontometaphyseal Dysplasia 2 |
|
Low-set ears, Congenital hip dislocation, Gastroesophageal reflux, Conductive hearing impairment,... |
OMIM:617137 |
Ophthalmoplegia, External, With Rib And Vertebral Anomalies |
|
Pectus carinatum, Short ribs, Missing ribs, Pseudoarthrosis, Pectus excavatum, Scoliosis |
OMIM:618155 |
Narcolepsy Type 1 |
|
Precocious puberty, Constipation, Male sexual dysfunction, Female sexual dysfunction |
ORPHA:2073 |
Isolated Agammaglobulinemia |
|
Pneumonia, Abnormality of neutrophils, Abnormal lymphocyte morphology, Otitis media, Skin rash, A... |
ORPHA:229717 |
Greenberg Dysplasia |
|
Platyspondyly, Narrow chest, Abnormal form of the vertebral bodies, Abnormal pelvis bone ossifica... |
ORPHA:1426 |
Ciliary Dyskinesia, Primary, 3 |
|
Recurrent otitis media, Recurrent respiratory infections, Bronchiectasis, Recurrent sinusitis |
OMIM:608644 |
Ciliary Dyskinesia, Primary, 22 |
|
Nasal polyposis, Recurrent otitis media, Chronic bronchitis, Recurrent sinusitis, Rhinitis, Absen... |
OMIM:615444 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Precocious puberty, Maturity-onset diabetes of the young, Recurrent otitis media, Postnatal growt... |
ORPHA:254531 |
Spondylometaphyseal Dysplasia, Algerian Type |
|
Platyspondyly, Hypoplasia of proximal radius, Short tubular bones of the hand, Flared femoral met... |
OMIM:184253 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Abnormal vertebral morphology, Low-set ears, Elevated circulating luteinizing hormone level, Abno... |
ORPHA:95699 |
Immunodeficiency 32B |
|
Pneumonia, Impaired oxidative burst, Splenomegaly, Sinusitis, Eosinophilia, Monocytopenia, Thromb... |
OMIM:226990 |
46,Xx Testicular Difference Of Sex Development |
|
Decreased testicular size, Male hypogonadism, Ambiguous genitalia, Polycystic ovaries |
ORPHA:393 |
Ciliary Dyskinesia With Transposition Of Ciliary Microtubules |
|
Recurrent sinopulmonary infections, Abnormal respiratory motile cilium morphology |
OMIM:215520 |
Pulmonary Venoocclusive Disease 1, Autosomal Dominant |
|
Centrilobular ground-glass opacification on pulmonary HRCT, Pulmonary venous occlusion, Interlobu... |
OMIM:265450 |
Retinal Dystrophy And Microvillus Inclusion Disease |
|
Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Bronc... |
OMIM:619446 |
Nocardiosis |
|
Pneumonia, Lymphadenitis, Cutaneous abscess, Keratitis, Liver abscess, Emphysema, Osteomyelitis, ... |
ORPHA:31204 |
Chondrodysplasia, Blomstrand Type |
|
Abnormal vertebral morphology, Narrow chest, Stillbirth, Flared metaphysis, Short ribs, Advanced ... |
OMIM:215045 |
Immunodeficiency 27A |
|
Pneumonia, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Pulmonary infiltrates, Increased infla... |
OMIM:209950 |
Fraser Syndrome |
|
Small scrotum, Atresia of the external auditory canal, Abnormal vagina morphology, Female pseudoh... |
ORPHA:2052 |
Retinal Dystrophy With Or Without Extraocular Anomalies |
|
Premature ovarian insufficiency, Pulmonary fibrosis, Secondary amenorrhea, Goiter |
OMIM:617175 |
Lymphangioleiomyomatosis |
|
Chylothorax, Atelectasis, Emphysema, Pulmonary lymphangiomyomatosis, Pulmonary infiltrates, Pneum... |
ORPHA:538 |
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Intraalveolar phospholipid accumulation, Spontaneous neonatal pneumothorax, Interstitial pneumoni... |
ORPHA:217563 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Fluctuating splenomegaly, Recurrent otitis media, Autoimmune hemolytic anemia, Neutropenia in pre... |
OMIM:619220 |
Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Cervical C2/C3 vertebral fusion, Short neck, Sprengel anomaly, Abnormal limb bone morphology, Abn... |
OMIM:118100 |
Neonatal Alloimmune Neutropenia |
|
Pneumonia, Neutropenia in presence of anti-neutropil antibodies |
ORPHA:464370 |
Aspergillosis |
|
Pneumonia, Keratitis, Hepatitis, Ground-glass opacification, Osteomyelitis, Pleural effusion, Par... |
ORPHA:1163 |
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
|
Pectus excavatum, Hypoplastic distal segments of scapulae, Abnormal rib morphology |
OMIM:602196 |
Radio-Tartaglia Syndrome |
|
Precocious puberty, Low-set ears, Highly arched eyebrow, Gastroesophageal reflux, Conductive hear... |
OMIM:619312 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Abnormal vertebral morphology, Rib fusion, Hand polydactyly, Craniosynostosis, Scoliosis |
ORPHA:261197 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Pneumonia, Atopic dermatitis, Chronic otitis media, Recurrent sinusitis, B lymphocytopenia, Recur... |
ORPHA:217390 |
Complement Factor B Deficiency |
|
Pneumonia, Peritonitis |
OMIM:615561 |
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature |
|
Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Bronc... |
OMIM:615139 |
Congenital Tracheomalacia |
|
Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, Em... |
ORPHA:95430 |
Laryngotracheoesophageal Cleft Type 4 |
|
Tracheal stenosis, Tracheoesophageal fistula, Abnormal form of the vertebral bodies |
ORPHA:93941 |
Atelosteogenesis Type I |
|
Platyspondyly, Laryngotracheal stenosis, Low-set ears, Rhizomelia, Joint dislocation, Abnormal pa... |
ORPHA:1190 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Thin ribs, Platyspondyly, Metaphyseal cupping of metacarpals, Metaphyseal cupping, Hypoplastic il... |
OMIM:300863 |
Larsen Syndrome |
|
Hypoplastic cervical vertebrae, Elbow dislocation, Hearing impairment, Cryptorchidism, Beaking of... |
OMIM:150250 |
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Nasal polyposis, Recurrent respiratory infections, Bronchiectasis, Recurrent sinusitis |
OMIM:620197 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Inflammation of the large intestine, Interstitial emphysema, Lymphopenia, Bronchiectasis, Pulmona... |
OMIM:619708 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Platyspondyly, Hip osteoarthritis, Hump-shaped mound of bone in central and posterior portions of... |
OMIM:313400 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant |
|
Platyspondyly, Pectus carinatum, Hypoplasia of the odontoid process, Avascular necrosis of the ca... |
OMIM:184100 |
Chromosome Xp11.23-P11.22 Duplication Syndrome |
|
Precocious puberty, Downslanted palpebral fissures, Thick eyebrow, Medial flaring of the eyebrow,... |
OMIM:300801 |
Distal Deletion 10P |
|
Hearing impairment, Downslanted palpebral fissures, Low-set, posteriorly rotated ears, Intrauteri... |
ORPHA:1580 |
White Forelock With Malformations |
|
Finger syndactyly, Clinodactyly of the 5th finger, Sprengel anomaly, Abnormal rib morphology, Spi... |
ORPHA:2475 |
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion |
|
Precocious puberty, Low-set, posteriorly rotated ears, Postnatal growth retardation, Intrauterine... |
ORPHA:254525 |
Sarcoidosis, Susceptibility To, 1 |
|
Inflammation of the large intestine, Emphysema, Pancytopenia, Pleural effusion, Splenomegaly, Pul... |
OMIM:181000 |
Temple Syndrome |
|
Precocious puberty, Maturity-onset diabetes of the young, Recurrent otitis media, Decreased testi... |
OMIM:616222 |
Severe Combined Immunodeficiency, X-Linked |
|
Pneumonia, Recurrent pneumonia, Skin rash, Hypoplasia of the thymus, Impaired lymphocyte transfor... |
OMIM:300400 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Abnormal form of the vertebral bodies, Sandal gap, Sprengel anomaly, Brachydactyly, Hemivertebrae... |
ORPHA:2180 |
Perching Syndrome |
|
Respiratory distress, Cyanosis, Scoliosis, Dysphagia, Feeding difficulties |
OMIM:617055 |
Fusariosis |
|
Ground-glass opacification, Abnormality of the spleen, Lymphopenia, Pulmonary infiltrates, Neutro... |
ORPHA:228119 |
Polyembryoma |
|
Increased serum serotonin, Irregular menstruation, Abnormal circulating gonadotropin concentratio... |
ORPHA:180229 |
Ciliary Dyskinesia, Primary, 6 |
|
Recurrent sinusitis, Sinusitis, Recurrent respiratory infections, Absent/shortened outer dynein a... |
OMIM:610852 |
Mosaic Trisomy 14 |
|
Narrow chest, Short neck, Abnormal rib morphology, Camptodactyly of finger |
ORPHA:1703 |
Seizures, Cortical Blindness, And Microcephaly Syndrome |
|
Bronchiectasis |
OMIM:616632 |
Chronic Beryllium Disease |
|
Reticulonodular pattern on pulmonary HRCT, Ground-glass opacification, Lymphocytic interstitial p... |
ORPHA:133 |
Basilicata-Akhtar Syndrome |
|
Precocious puberty, Low-set ears, Gastroesophageal reflux, Hearing impairment, Downslanted palpeb... |
OMIM:301032 |
Tularemia |
|
Pneumonia, Brain abscess, Cutaneous abscess, Pleural effusion, Otitis media, Skin rash, Pulmonary... |
ORPHA:3392 |
Lipodystrophy, Familial Partial, Type 3 |
|
Insulin-resistant diabetes mellitus, Hyperinsulinemia, Type II diabetes mellitus, Reduced subcuta... |
OMIM:604367 |
Mccune-Albright Syndrome |
|
Precocious puberty, Irregular menstruation, Gastroesophageal reflux, Increased circulating cortis... |
ORPHA:562 |
Dyggve-Melchior-Clausen Disease |
|
Hypoplastic scapulae, Hypoplasia of the odontoid process, Hypoplastic iliac wing, Genu valgum, Ba... |
OMIM:223800 |
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Genu valgum, Carpal bone hypoplasia, Broad phalanx, Metaphyseal dysplasia, Short foot, Genu varum... |
OMIM:250420 |
Mucopolysaccharidosis, Type Iva |
|
Constricted iliac wing, Hypoplasia of the odontoid process, Genu valgum, Short neck, Anterior bea... |
OMIM:253000 |
Congenital Respiratory-Biliary Fistula |
|
Tracheal stenosis |
ORPHA:2040 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Low-set ears, Elevated circulating luteinizing hormone level, Supernumerary lacrimal punctum, Lac... |
ORPHA:572333 |
Ovarian Hyperstimulation Syndrome |
|
Hemorrhagic ovarian cyst, Pleural effusion, Nausea and vomiting, Ovarian cyst, Pulmonary edema, E... |
ORPHA:64739 |
Larsen-Like Syndrome, Lethal Type |
|
Multiple joint dislocation, Joint dislocation, Neonatal death, Abnormal cartilage matrix, Pulmona... |
OMIM:245650 |
Familial Peripheral Male-Limited Precocious Puberty |
|
Precocious puberty, Long penis, Oligozoospermia, Macroorchidism, Male infertility |
ORPHA:3000 |
Ciliary Dyskinesia, Primary, 38 |
|
Bronchiectasis, Chronic sinusitis, Absent inner and outer dynein arms, Rhinitis, Chronic otitis m... |
OMIM:618063 |
Caspase 8 Deficiency |
|
Pneumonia, Eczematoid dermatitis, Decreased CD4:CD8 ratio, Splenomegaly, Recurrent sinopulmonary ... |
OMIM:607271 |
Surfactant Metabolism Dysfunction, Pulmonary, 5 |
|
Ground-glass opacification, Intraalveolar phospholipid accumulation, Interlobular septal thickening |
OMIM:614370 |
Asherman Syndrome |
|
Abnormality of the menstrual cycle, Metrorrhagia, Dysmenorrhea, Episodic abdominal pain, Decrease... |
ORPHA:137686 |
Donohue Syndrome |
|
Precocious puberty, Low-set ears, Clitoral hypertrophy, Long penis, Postnatal growth retardation,... |
OMIM:246200 |
Septopreoptic Holoprosencephaly |
|
Abnormal vertebral morphology, Abnormal rib morphology |
ORPHA:280195 |
Xp22.13P22.2 Duplication Syndrome |
|
Recurrent upper respiratory tract infections, Hearing impairment, Downslanted palpebral fissures,... |
ORPHA:284180 |
Thanatophoric Dysplasia, Type I |
|
Small abnormally formed scapulae, Hypoplastic ilia, Platyspondyly, Narrow chest, Thoracic hypopla... |
OMIM:187600 |
Activated Pi3K-Delta Syndrome |
|
Pneumonia, Recurrent otitis media, Splenomegaly, Chronic sinusitis, Arthritis, B lymphocytopenia,... |
ORPHA:397596 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Recurrent pneumonia, Intralobular septal thickening, Spontaneous pneumothorax, Intraalveolar phos... |
OMIM:610913 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Abnormally low T cell receptor excision circle level, Recurrent pneumonia, Lymphadenitis, Recurre... |
OMIM:618986 |
Pneumocystosis |
|
Combined cystic and ground-glass pattern on pulmonary HRCT, Interstitial pneumonitis, Pleural eff... |
ORPHA:723 |
Mucopolysaccharidosis Type 4 |
|
Platyspondyly, Pectus carinatum, Abnormal epiphysis morphology, Joint dislocation, Short thorax, ... |
ORPHA:582 |
Hydrolethalus |
|
Low-set ears, Low-set, posteriorly rotated ears, Cryptorchidism, Tracheal atresia, Abnormal fallo... |
ORPHA:2189 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Axillary pterygium, Popliteal pterygium, Finger syndactyly, Abnormal sternum morphology, Camptoda... |
ORPHA:2990 |
Smith-Mccort Dysplasia 1 |
|
Platyspondyly, Hypoplastic scapulae, Hypoplastic acetabulae, Hypoplasia of the odontoid process, ... |
OMIM:607326 |
Immunodeficiency 62 |
|
Decreased proportion of memory B cells, Recurrent upper respiratory tract infections, Increased p... |
OMIM:618459 |
Kbg Syndrome |
|
Radial deviation of finger, Cervical ribs, Ulnar deviation of the 2nd finger, Thoracic kyphosis, ... |
OMIM:148050 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Recurrent otitis media, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T ce... |
OMIM:300853 |
Slc35A1-Cdg |
|
Pneumonia, Giant platelets, Pulmonary hemorrhage, Abnormal platelet granules, Neutropenia, Thromb... |
ORPHA:238459 |
Fibrochondrogenesis 1 |
|
Thin ribs, Hypoplastic scapulae, Joint contracture of the hand, Small hand, Broad long bones, Sho... |
OMIM:228520 |
Premature Ovarian Failure 21 |
|
Decreased serum estradiol, Precocious puberty in females, Streak ovary, Elevated circulating foll... |
OMIM:620311 |
Ciliary Dyskinesia, Primary, 25 |
|
Recurrent pneumonia, Polysplenia, Recurrent otitis media, Chronic bronchitis, Recurrent sinusitis... |
OMIM:615482 |
Silver-Russell Syndrome |
|
Premature adrenarche, Low-set ears, Precocious puberty, Hypospadias, Abnormal male external genit... |
ORPHA:813 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Radial bowing, Tibial bowing, Lower limb undergrowth, Bowing of the long bones, Abnormal fibula m... |
ORPHA:3035 |
Ollier Disease |
|
Precocious puberty, Platyspondyly, Multiple enchondromatosis, Abnormal cartilage morphology |
ORPHA:296 |
Congenital Generalized Lipodystrophy |
|
Clitoral hypertrophy, Precocious puberty in females, Overgrowth of external genitalia, Hyperinsul... |
ORPHA:528 |
Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:97330 |
Osteogenesis Imperfecta, Type Ii |
|
Thin ribs, Platyspondyly, Abnormal pelvic girdle bone morphology, Thoracic hypoplasia, Broad long... |
OMIM:166210 |
Staphylococcal Necrotizing Pneumonia |
|
Pneumonia, Leukopenia, Pleural effusion, Parenchymal consolidation, Leukocytosis, Pulmonary infil... |
ORPHA:36238 |
Immunodeficiency 52 |
|
Recurrent pneumonia, Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell co... |
OMIM:617514 |
Scedosporiosis |
|
Pneumonia, Bronchitis, Osteomyelitis, Apical pulmonary opacity, Arthralgia/arthritis, Sinusitis, ... |
ORPHA:449280 |
Smith-Magenis Syndrome |
|
Precocious puberty, Gastroesophageal reflux, Conductive hearing impairment, Abnormal form of the ... |
ORPHA:819 |
Ciliary Dyskinesia, Primary, 2 |
|
Nasal polyposis, Bronchiectasis, Otitis media, Sinusitis, Recurrent respiratory infections, Absen... |
OMIM:606763 |
Primary Pulmonary Hypoplasia |
|
Low-set ears, Abnormal pulmonary artery morphology, Patellar hypoplasia, Abnormal tracheal morpho... |
ORPHA:2257 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Elevated circulating luteinizing hormone level, Decreased fertility, Cryptorchidism, Dysmenorrhea... |
ORPHA:90796 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Recurrent respiratory infections, Intraalveolar phospholipid accumulation, Splenomegaly, Leukocyt... |
OMIM:618042 |
Grant Syndrome |
|
Abnormality of the glenoid fossa, Abnormal pelvic girdle bone morphology, Narrow chest, Joint dis... |
ORPHA:2097 |
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome |
|
Bronchiectasis |
ORPHA:2375 |
Craniofacioskeletal Syndrome |
|
Hypospadias, Short palpebral fissure, Downslanted palpebral fissures, Tracheal stenosis, Intraute... |
OMIM:300712 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Accessory spleen, Peripheral pulmonary artery stenosis, Recurrent pneumonia, Atelectasis, Emphyse... |
OMIM:613177 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Aplasia/Hypoplasia of fingers, Pectus carinatum, Toe syndactyly, Abnormal epiphysis morphology, M... |
ORPHA:3082 |
Autosomal Recessive Cutis Laxa Type 1 |
|
Peripheral pulmonary artery stenosis, Recurrent pneumonia, Emphysema, Pyelonephritis, Pneumothorax |
ORPHA:90349 |
Fibrochondrogenesis |
|
Hypoplastic scapulae, Narrow chest, Abnormal form of the vertebral bodies, Abnormal diaphysis mor... |
ORPHA:2021 |
Achondrogenesis, Type Ii |
|
Broad long bones, Short tubular bones of the hand, Hypoplastic iliac wing, Absent vertebral body ... |
OMIM:200610 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B |
|
Pulmonary hypoplasia |
OMIM:615228 |
Bainbridge-Ropers Syndrome |
|
Low-set ears, Supernumerary nipple, Cryptorchidism, Epicanthus, Tube feeding, Precocious puberty,... |
OMIM:615485 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Atrophic gastritis, Recurrent pneumonia, Autoimmune hemolytic anemia, Recurrent sinusitis, Recurr... |
OMIM:616576 |
Mucopolysaccharidosis, Type X |
|
Platyspondyly, Broad clavicles, Irregular acetabular roof, Broad ribs, Genu valgum, Spatulate rib... |
OMIM:619698 |
Hypersulfaturia |
|
Costochondral pain |
OMIM:620372 |
Surfactant Metabolism Dysfunction, Pulmonary, 4 |
|
Ground-glass opacification, Intraalveolar phospholipid accumulation |
OMIM:300770 |
3M Syndrome |
|
Thin ribs, Congenital hip dislocation, Rocker bottom foot, Scoliosis, Slender long bone, Short th... |
ORPHA:2616 |
Retinitis Pigmentosa, Deafness, Impaired Intellectual Development, And Hypogonadism |
|
Insulin-resistant diabetes mellitus, Polycystic ovaries, Short stature, Secondary amenorrhea, Hyp... |
OMIM:268020 |
Combined Oxidative Phosphorylation Deficiency 51 |
|
Aspiration pneumonia |
OMIM:619057 |
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism |
|
Pulmonary hypoplasia |
OMIM:613124 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Recurrent upper respiratory tract infections, Osteomyelitis, Autoimmune hemolytic anemia, Autoimm... |
OMIM:608184 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Delayed epiphyseal ossification, Abnormal ilium morphology, Hypoplasia of the odontoid process, R... |
ORPHA:93314 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Herpes simplex encephalitis, Recurrent otitis media, Hepatosplenomegaly, Increased proportion of ... |
OMIM:618982 |
Melnick-Needles Syndrome |
|
Short distal phalanx of finger, Hip dislocation, Anisospondyly, Narrow chest, Short thorax, Delay... |
ORPHA:2484 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Delayed epiphyseal ossification, Platyspondyly, Fibular overgrowth, Short femoral neck, Flared me... |
OMIM:602557 |
Immunodeficiency 40 |
|
Focal active colitis, Recurrent pneumonia, Eosinophilic granuloma, Recurrent otitis media, Inters... |
OMIM:616433 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Abnormal form of the vertebral bodies, Arachnodactyly, Missing ribs, Hemivertebrae, Abnormal rib ... |
ORPHA:2759 |
Immunodeficiency 60 And Autoimmunity |
|
Decreased proportion of memory B cells, Ulcerative colitis, Pancytopenia, Splenomegaly, Crohn's d... |
OMIM:618394 |
Lymphangiectasia, Intestinal |
|
Prominent floating ribs, Stillbirth |
OMIM:152800 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Precocious puberty, Maturity-onset diabetes of the young, Recurrent otitis media, Postnatal growt... |
ORPHA:96184 |
Zygomycosis |
|
Pulmonary infiltrates, Pustule, Acute infectious pneumonia, Neutropenia, Air crescent sign, Endoc... |
ORPHA:73263 |
19P13.12 Microdeletion Syndrome |
|
Precocious puberty, Low-set ears, Hypospadias, Conductive hearing impairment, Intrauterine growth... |
ORPHA:254346 |
Achondrogenesis Type 1B |
|
Narrow chest, Abnormal rib morphology, Short neck, Short thorax, Short foot |
ORPHA:93298 |
Phaver Syndrome |
|
Ulnar deviation of finger, Broad thumb, Short thumb, Abnormal form of the vertebral bodies, Campt... |
ORPHA:2876 |
Whim Syndrome 1 |
|
Recurrent upper respiratory tract infections, Bronchiectasis, Neutropenia |
OMIM:193670 |
Hydrolethalus Syndrome 1 |
|
Low-set ears, Abnormal vagina morphology, Abnormal lung lobation, Tracheal stenosis, Intrauterine... |
OMIM:236680 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Premature adrenarche, Clitoral hypertrophy, Feeding difficulties, Decreased fertility, Abnormal c... |
ORPHA:90794 |
Cartilage-Hair Hypoplasia |
|
Sparse eyebrow, Rhizomelia, Biconvex vertebral bodies, Abnormal form of the vertebral bodies, Dis... |
ORPHA:175 |
Esophageal Atresia |
|
Abnormal vertebral morphology, Hearing impairment, Esophagitis, Episodic respiratory distress, Fe... |
ORPHA:1199 |
Cole-Carpenter Syndrome |
|
Abnormal form of the vertebral bodies, Bowing of the long bones, Wormian bones, Abnormal rib morp... |
ORPHA:2050 |
Klippel-Feil Syndrome 3, Autosomal Dominant |
|
Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion, Thoracic scoliosis |
OMIM:613702 |
Dystonia 28 |
|
Precocious puberty, Hypothyroidism, Dysphagia, Short stature |
ORPHA:589618 |
Acrocapitofemoral Dysplasia |
|
Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep... |
OMIM:607778 |
Diarrhea 12, With Microvillus Atrophy |
|
Bronchiectasis, Respiratory tract infection |
OMIM:619445 |
Preeclampsia |
|
Type I diabetes mellitus, Intrauterine growth retardation, Polycystic ovaries, Pulmonary edema, H... |
ORPHA:275555 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Sprengel anomaly, Abnormality of the vertebral column, Abnormal rib morphology |
OMIM:601076 |
Loeys-Dietz Syndrome 4 |
|
Emphysema, Eosinophilic infiltration of the esophagus, Pneumothorax |
OMIM:614816 |
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Thin ribs, Platyspondyly, Metaphyseal cupping of metacarpals, Hypoplasia of the odontoid process,... |
OMIM:300232 |
Ovarian Fibrothecoma |
|
Abdominal distention, Abnormality of the ovary, Gonadal calcification, Pleural effusion, Metrorrh... |
ORPHA:314478 |
Immunodeficiency 109 With Lymphoproliferation |
|
Pancytopenia, Splenomegaly, Recurrent sinusitis, Absent circulating B cells, Recurrent lower resp... |
OMIM:620282 |
Microphthalmia, Syndromic 3 |
|
Butterfly vertebrae, Missing ribs, Supernumerary ribs, Rib fusion, Hemivertebrae, Vertebral fusio... |
OMIM:206900 |
Farber Disease |
|
Recurrent upper respiratory tract infections, Hepatic failure, Atelectasis, Respiratory distress,... |
ORPHA:333 |
Peripheral Primitive Neuroectodermal Tumor |
|
Precocious puberty, Neoplasm of the scrotum, Uterine neoplasm, Anorexia, Nausea and vomiting, Met... |
ORPHA:370348 |
Cystic Echinococcosis |
|
Pulmonary cyst, Abnormality of the testis size, Hepatic cysts, Ovarian cyst, Abnormal subpleural ... |
ORPHA:400 |
10Q22.3Q23.3 Microduplication Syndrome |
|
Abnormal clavicle morphology, Abnormal rib morphology |
ORPHA:276422 |
Ciliary Dyskinesia, Primary, 24 |
|
Recurrent otitis media, Bronchiectasis, Recurrent sinusitis, Chronic rhinitis |
OMIM:615481 |
Familial Glucocorticoid Deficiency |
|
Precocious puberty, Leydig cell neoplasia, Abnormal circulating adrenocorticotropin concentration... |
ORPHA:361 |
Slc35A2-Cdg |
|
Precocious puberty, Gastroesophageal reflux, Elevated circulating thyroid-stimulating hormone con... |
ORPHA:356961 |
Nephronophthisis-Like Nephropathy 2 |
|
Recurrent respiratory infections, Bronchiectasis, Pulmonary infiltrates |
OMIM:619468 |
Pallister-Hall Syndrome |
|
Atresia of the external auditory canal, Cryptorchidism, Neonatal death, Radial head subluxation, ... |
OMIM:146510 |
Meier-Gorlin Syndrome 6 |
|
Emphysema, Recurrent respiratory infections |
OMIM:616835 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Hypospadias, Downslanted palpebral fissures, Bilateral ptosis, Tracheal stenosis, Absent gallblad... |
ORPHA:163979 |
Luscan-Lumish Syndrome |
|
Irregular menstruation, Downslanted palpebral fissures, Recurrent otitis media, Polycystic ovarie... |
OMIM:616831 |
Geleophysic Dysplasia 1 |
|
Platyspondyly, Laryngotracheal stenosis, Joint contracture of the hand, Camptodactyly of finger, ... |
OMIM:231050 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Recurrent pneumonia, Abnormal CD4:CD8 ratio, Recurrent aphthous stomatitis, Splenomegaly, Abscess... |
OMIM:150550 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Sclerotic vertebral body, Metatarsal diaphyseal endosteal sclerosis, Abnormal pelvic girdle bone ... |
OMIM:144750 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Pneumonia, Recurrent upper respiratory tract infections, Chronic bronchitis, B lymphocytopenia |
OMIM:614069 |
Keutel Syndrome |
|
Pulmonary artery hypoplasia, Peripheral pulmonary artery stenosis, Emphysema, Recurrent otitis me... |
OMIM:245150 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Narrow chest, Overlapping toe, Rib fusion, Short neck, Beaking of vertebral bodies, Sprengel anom... |
OMIM:213980 |
Acute Lung Injury |
|
Pneumonia, Diffuse alveolar hemorrhage, Pulmonary infiltrates, Abnormal pulmonary interstitial mo... |
ORPHA:178320 |
Optic Pathway Glioma |
|
Precocious puberty, Nausea, Vomiting, Growth delay |
ORPHA:2086 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Atelectasis, Hepatosplenomegaly, Leukocytosis, Reticulocytosis, Anisocytosis, Poikilocytosis, Dec... |
OMIM:618278 |
Carpenter Syndrome 1 |
|
Precocious puberty, Lambdoidal craniosynostosis, Joint contracture of the hand, Shallow acetabula... |
OMIM:201000 |
Lethal Congenital Contracture Syndrome 11 |
|
Pulmonary hypoplasia |
OMIM:617194 |
Precocious Puberty, Central, 2 |
|
Premature thelarche, Premature pubarche |
OMIM:615346 |
Cardiocranial Syndrome, Pfeiffer Type |
|
Low-set ears, Hypospadias, Growth delay, Contracture of the proximal interphalangeal joint of the... |
ORPHA:2872 |
Estrogen Resistance |
|
Breast aplasia, Hyperinsulinemia, Increased serum estradiol, Polycystic ovaries, Increased circul... |
OMIM:615363 |
High Altitude Pulmonary Edema |
|
Nausea and vomiting, Cyanosis, Pulmonary edema, Tachypnea, Orthopnea, Anorexia, Dyspnea, Hypoxemi... |
ORPHA:330012 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Pneumonia, Periodontitis, Aplastic anemia, Lymphopenia, Recurrent aphthous stomatitis, Acute lymp... |
ORPHA:486 |
Pparg-Related Familial Partial Lipodystrophy |
|
Insulin-resistant diabetes mellitus, Prominent veins on trunk, Dysmenorrhea, Polycystic ovaries, ... |
ORPHA:79083 |
Melioidosis |
|
Pneumonia, Brain abscess, Foot osteomyelitis, Cutaneous abscess, Hepatitis, Parotitis, Abnormalit... |
ORPHA:31202 |
Acrodysplasia Scoliosis |
|
Spina bifida occulta, Scoliosis, Brachydactyly, Vertebral segmentation defect |
ORPHA:2956 |
Cog1-Cdg |
|
Posterior rib gap, Butterfly vertebrae, Vertebral segmentation defect, Rib fusion, Kyphoscoliosis... |
ORPHA:263508 |
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome |
|
Gastroesophageal reflux, Cryptorchidism, Gastrostomy tube feeding in infancy, Feeding difficultie... |
ORPHA:457205 |
Dentici-Novelli Neurodevelopmental Syndrome |
|
Precocious puberty, Upslanted palpebral fissure, Hearing impairment, Macrotia |
OMIM:619877 |
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Precocious puberty, Short palpebral fissure, Telecanthus, Upslanted palpebral fissure, Cryptorchi... |
OMIM:620073 |
Aicardi Syndrome |
|
Small hand, Block vertebrae, Butterfly vertebrae, Missing ribs, Supernumerary ribs, Rib fusion, B... |
ORPHA:50 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Radial bowing, Delayed crania... |
OMIM:268310 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Aspiration pneumonia |
ORPHA:90117 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Emphysema, Abnormality of the pulmonary artery |
ORPHA:363618 |
Congenital Pseudoarthrosis Of The Clavicle |
|
Congenital pseudoarthrosis of the clavicle, Osteoarthritis, Cervical ribs |
ORPHA:66630 |
Chst3-Related Skeletal Dysplasia |
|
Abnormal form of the vertebral bodies, Irregular epiphyses, Small epiphyses, Genu valgum, Barrel-... |
ORPHA:263463 |
Immunodeficiency 57 With Autoinflammation |
|
Inflammation of the large intestine, Reduced natural killer cell count, Skin rash, Gastritis, Per... |
OMIM:618108 |
Osteogenesis Imperfecta, Type Xxi |
|
Platyspondyly, Bowing of the arm, Bell-shaped thorax, Barrel-shaped chest, Wormian bones, Coxa va... |
OMIM:619131 |
Osteogenesis Imperfecta, Type Xviii |
|
Thin ribs, Femoral bowing, Biconcave vertebral bodies, Bowing of the long bones, Wormian bones, V... |
OMIM:617952 |
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Pulmonary hypoplasia, Abnormal lung lobation |
ORPHA:2631 |
9P13 Microdeletion Syndrome |
|
Precocious puberty, Low-set ears, Highly arched eyebrow, Recurrent otitis media, External genital... |
ORPHA:324313 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Pneumonia, Recurrent pneumonia, Hepatitis, Lymphopenia, Hepatosplenomegaly, Otitis media, Eosinop... |
ORPHA:169160 |
Achondrogenesis, Type Ia |
|
Unossified vertebral bodies, Hypoplastic scapulae, Broad clavicles, Narrow chest, Abnormal femora... |
OMIM:200600 |
Short Stature And Facioauriculothoracic Malformations |
|
Pectus carinatum, Cervical ribs, Abnormal odontoid process morphology, Short neck, Pectus excavatum |
OMIM:609654 |
Immunodeficiency 102 |
|
Recurrent upper respiratory tract infections, Reduced natural killer cell count, Increased propor... |
OMIM:301082 |
Rudiger Syndrome |
|
Micropenis, Death in infancy, Bicornuate uterus, Ovarian cyst |
OMIM:268650 |
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome |
|
Precocious puberty, Scoliosis, Hearing impairment |
ORPHA:457260 |
Pleural Mesothelioma |
|
Respiratory distress, Abnormal pleura morphology, Pleural effusion, Dyspnea, Abnormal lung morpho... |
ORPHA:50251 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3 |
|
Pneumonia |
OMIM:608033 |
Lujo Hemorrhagic Fever |
|
Atelectasis, Lymphopenia, Leukopenia, Leukocytosis, Skin rash, Maculopapular exanthema, Thrombocy... |
ORPHA:319213 |
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy |
|
Recurrent aspiration pneumonia |
OMIM:619971 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Radial bowing, Genu valgum, Thoracolumbar scoliosis, Metaphyseal dysplasia, Ovoid vertebral bodie... |
OMIM:618019 |
Proteus-Like Syndrome |
|
Genu recurvatum, Thymus hyperplasia, Bronchogenic cyst, Abnormality of the parathyroid gland, Dow... |
ORPHA:2969 |
Nphp3-Related Meckel-Like Syndrome |
|
Pulmonary hypoplasia |
ORPHA:3032 |
Adrenal Hypoplasia, Congenital |
|
Precocious puberty, Absence of pubertal development, Adrenal insufficiency, Primary adrenal insuf... |
OMIM:300200 |
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Bifid sternum, Supraumbilical raphe |
OMIM:140850 |
X-Linked Centronuclear Myopathy |
|
Pneumonia, Recurrent respiratory infections |
ORPHA:596 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Thin ribs, Platyspondyly, Metaphyseal cupping of metacarpals, Abnormality of the calcaneus, Hypop... |
ORPHA:163966 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Pneumonia, Atrophic gastritis, Recurrent upper respiratory tract infections, Inflammation of the ... |
ORPHA:436159 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Abnormal epiphysis morphology, Brachydactyly, Abnormal rib morphology |
ORPHA:2643 |
Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome |
|
Bronchiectasis, Decreased proportion of CD4-positive T cells |
ORPHA:477814 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Absent bronchoalveolar dimeric surfactant-protein B, Intraalveolar phospholipid accumulation, Int... |
OMIM:265120 |
Cat-Eye Syndrome |
|
Hip dysplasia, Abnormal rib morphology |
ORPHA:195 |
Cooper-Jabs Syndrome |
|
Camptodactyly of finger, Abnormal hip bone morphology, Missing ribs, Abnormal rib morphology, Sco... |
ORPHA:1488 |
Congenital Factor Vii Deficiency |
|
Gastrointestinal hemorrhage, Bruising susceptibility, Ovarian cyst, Joint hemorrhage, Menorrhagia |
ORPHA:327 |
Autosomal Recessive Robinow Syndrome |
|
Broad thumb, Toe syndactyly, Finger syndactyly, Synostosis of carpal bones, Elbow dislocation, Sh... |
ORPHA:1507 |
Relapsing Polychondritis |
|
Uveitis, Keratitis, Hepatitis, Atelectasis, Recurrent aphthous stomatitis, Chondritis, Episclerit... |
ORPHA:728 |
Pulmonary Alveolar Microlithiasis |
|
Bronchitis, Interlobular septal thickening, Ground-glass opacification, Subpleural interstitial t... |
ORPHA:60025 |
Garg-Mishra Progeroid Syndrome |
|
Thin ribs, Platyspondyly, Narrow chest, Slender long bone, Persistent open anterior fontanelle, S... |
OMIM:620601 |
Achondrogenesis Type 1A |
|
Narrow chest, Multiple rib fractures, Short neck, Short thorax, Short foot, Short palm |
ORPHA:93299 |
Lethal Kniest-Like Dysplasia |
|
Platyspondyly, Hypoplastic ilia, Narrow chest, Flared metaphysis, Broad long bones, Short ribs, H... |
ORPHA:2347 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Recurrent upper respiratory tract infections, Respiratory distress, Cyanosis, Type II pneumocyte ... |
OMIM:263000 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hyperinsulinemia, Diabetes mellitus, Polycystic ovaries |
ORPHA:79084 |
Oocyte/Zygote/Embryo Maturation Arrest 8 |
|
Abnormality of the menstrual cycle, Female infertility, Abnormal circulating estrogen level |
OMIM:619009 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Recurrent pneumonia, Bilateral ptosis, Respiratory distress, Feeding difficulties in infancy, Dys... |
ORPHA:254875 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Hearing impairment, Recurrent otitis media, Streak ovary, Abnormal scrotum morphology, Cryptorchi... |
ORPHA:1772 |
Hepatic Adenomas, Familial |
|
Maturity-onset diabetes of the young, Polycystic ovaries |
OMIM:142330 |
Sarcoidosis |
|
Abnormal pleura morphology, Abnormal nasal mucosa morphology, Erythema nodosum, Tubulointerstitia... |
ORPHA:797 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Low-set ears, Postnatal growth retardation, Radioulnar synostosis, Beaking of vertebral bodies, O... |
ORPHA:536467 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Pneumothorax, Pleural effusion, Bronchiectasis, Pulmonary opacity |
ORPHA:411703 |
Ciliary Dyskinesia, Primary, 37 |
|
Female infertility, Hearing impairment, Goiter, Hypothyroidism, Bronchiectasis |
OMIM:617577 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Interstitial pneumonitis, Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of a... |
ORPHA:231154 |
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Keratitis, Eczematoid dermatitis, Recurrent otitis media, Eosinophilia, Recurrent respiratory inf... |
OMIM:618523 |
46,Xx Gonadal Dysgenesis |
|
Decreased serum estradiol, Hearing impairment, Aplasia/hypoplasia of the uterus, Gonadal dysgenes... |
ORPHA:243 |
Ciliary Dyskinesia, Primary, 51 |
|
Recurrent respiratory infections, Bronchiectasis, Recurrent sinusitis, Chronic rhinitis |
OMIM:620438 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Tapered toe, Rib fusion, Clinodactyly of the 5th finger, Sacral dimple, Tapered finger |
ORPHA:544488 |
Akt2-Related Familial Partial Lipodystrophy |
|
Decreased adiponectin level, Insulin-resistant diabetes mellitus, Polycystic ovaries, Oligomenorr... |
ORPHA:79085 |
Spondylospinal Thoracic Dysostosis |
|
Pulmonary hypoplasia |
OMIM:601809 |
Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Ground-glass opacification, Parenchymal consolidation, Cyanosis, Pneumothor... |
ORPHA:1302 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Atopic dermatitis, Recurrent upper respiratory tract infections, Recurrent pneumonia, Bronchiecta... |
OMIM:619752 |
Femoral-Facial Syndrome |
|
Toe syndactyly, Humeroradial synostosis, Limited elbow movement, Radioulnar synostosis, Sprengel ... |
OMIM:134780 |
Pituitary Gigantism |
|
Pituitary prolactin cell adenoma, Increased circulating prolactin concentration, Pituitary growth... |
ORPHA:99725 |
Bangstad Syndrome |
|
Type I diabetes mellitus, Increased circulating cortisol level, Abnormality of the parathyroid gl... |
ORPHA:1227 |
Kleefstra Syndrome Due To A Point Mutation |
|
Precocious puberty, Gastroesophageal reflux, Hearing impairment, Tracheomalacia, Abnormal shape o... |
ORPHA:261652 |
Trehalase Deficiency |
|
Vomiting, Diarrhea, Malabsorption, Abdominal distention, Abdominal pain |
ORPHA:103909 |
Renal Tubular Dysgenesis |
|
Pulmonary hypoplasia |
ORPHA:3033 |
Ciliary Dyskinesia, Primary, 43 |
|
Recurrent upper respiratory tract infections, Chronic sinusitis, Chronic rhinitis, Recurrent lowe... |
OMIM:618699 |
Immunodeficiency 77 |
|
Bronchiectasis, Cutaneous abscess |
OMIM:619223 |
Precocious Puberty, Male-Limited |
|
Decreased testicular size, Precocious puberty in males |
OMIM:176410 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Precocious puberty, Scoliosis, Hearing impairment |
OMIM:300958 |
Aicardi Syndrome |
|
Block vertebrae, Butterfly vertebrae, Missing ribs, Supernumerary ribs, Rib fusion, Bifid ribs, H... |
OMIM:304050 |
Acro-Renal-Mandibular Syndrome |
|
Thin ribs, Pectus carinatum, Hypoplastic scapulae, Kyphosis, Finger syndactyly, Rudimentary fibul... |
ORPHA:958 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Pneumonia, Reduced natural killer cell count, Chronic bronchitis, Sinusitis, T lymphocytopenia, B... |
OMIM:242860 |
Osteogenesis Imperfecta, Type Xvi |
|
Platyspondyly, Narrow chest, Bowing of the long bones, Wormian bones, Multiple rib fractures, Ang... |
OMIM:616229 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Crazy paving pattern, Acute infectious pneumonia |
ORPHA:264675 |
Bullous Dystrophy, Hereditary Macular Type |
|
Severe short stature, Acrocyanosis, Death in childhood |
OMIM:302000 |
Lethal Osteosclerotic Bone Dysplasia |
|
Low-set ears, Delayed cranial suture closure, Respiratory distress, Intrauterine growth retardati... |
ORPHA:1832 |
Osteogenesis Imperfecta, Type Iii |
|
Thin ribs, Slender long bone, Tibial bowing, Biconcave vertebral bodies, Wormian bones, Scoliosis... |
OMIM:259420 |
Choanal Atresia |
|
Tracheomalacia, Respiratory distress, Subglottic stenosis, Cyanosis, Craniosynostosis, Recurrent ... |
ORPHA:137914 |
Cowden Syndrome 6 |
|
Varicocele, Thyroid adenoma, Hearing impairment, Subcutaneous lipoma, Goiter, Ovarian cyst, Hypot... |
OMIM:615109 |
Immunodeficiency 65, Susceptibility To Viral Infections |
|
Stomatitis, Bronchiectasis |
OMIM:618648 |
Microduplication Xp11.22P11.23 Syndrome |
|
Precocious puberty |
ORPHA:217377 |
Cowden Syndrome 5 |
|
Thyroid adenoma, Hearing impairment, Subcutaneous lipoma, Goiter, Ovarian cyst, Hypothyroidism, H... |
OMIM:615108 |
Ellis Van Creveld Syndrome |
|
Emphysema, Acute leukemia, Aplasia/Hypoplasia of the lungs |
ORPHA:289 |
Cleft Velum |
|
Recurrent otitis media, Aspiration pneumonia |
ORPHA:99772 |
Lipe-Related Familial Partial Lipodystrophy |
|
Decreased adiponectin level, Insulin-resistant diabetes mellitus, Abnormal labia majora morpholog... |
ORPHA:435660 |
Emphysema, Congenital Lobar |
|
Respiratory distress, Bronchial cartilage hypoplasia |
OMIM:130710 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Ankle flexion contracture, Interphalangeal joint contracture of finger, Elbow flexion contracture... |
ORPHA:1145 |
Dysosteosclerosis |
|
Short diaphyses, Platyspondyly, Narrow chest, Broad femoral neck, Flared metaphysis, Broad ribs, ... |
OMIM:224300 |
Short Syndrome |
|
Low-set ears, Insulin-resistant diabetes mellitus, Premature skin wrinkling, Telecanthus, Intraut... |
OMIM:269880 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Diffuse alveolar hemorrhage, Spontaneous pneumothorax, Periodontitis, Emphysema, Nodular pattern ... |
OMIM:130050 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Hearing impairment, Respiratory distress, Postnatal growth retardation, Intrauterine growth retar... |
OMIM:616733 |
Malignant Migrating Focal Seizures Of Infancy |
|
Precocious puberty, Scoliosis |
ORPHA:293181 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Short distal phalanx of finger, Short thumb, Preaxial hand polydactyly, Abnormal thumb morphology... |
ORPHA:1120 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hearing impairment, Recurrent otitis media, Postnatal growth retardation, Cryptorchidism, Epicant... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Hearing impairment, Recurrent otitis media, Postnatal growth retardation, Cryptorchidism, Epicant... |
ORPHA:363958 |
Three M Syndrome 2 |
|
Thin ribs, Short 5th finger, Pectus carinatum, Slender long bone, Clinodactyly, Lumbar hyperlordo... |
OMIM:612921 |
Cidec-Related Familial Partial Lipodystrophy |
|
Decreased adiponectin level, Insulin-resistant diabetes mellitus, Polycystic ovaries, Oligomenorr... |
ORPHA:435651 |
Immunodeficiency, Common Variable, 2 |
|
Recurrent pneumonia, Abnormal T cell count, Recurrent otitis media, Recurrent bronchitis, Recurre... |
OMIM:240500 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Irregular menstruation, Diarrhea, Vomiting, Postnatal growth retardation, Polycystic ovaries, Dys... |
ORPHA:79240 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Low-set ears, Hearing impairment, Recurrent otitis media, Reduced subcutaneous adipose tissue, Ex... |
OMIM:619950 |
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction |
|
Preaxial hand polydactyly, Sprengel anomaly, Thoracolumbar scoliosis, Cervical ribs |
OMIM:601389 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive |
|
Lymphocytic interstitial pneumonia |
OMIM:245590 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Recurrent upper respiratory tract infections, Eczematoid dermatitis, Hepatosplenomegaly, Intersti... |
OMIM:615952 |
Angelman Syndrome |
|
Precocious puberty in females, Gastroesophageal reflux, Vomiting, Nasogastric tube feeding, Delay... |
ORPHA:72 |
Short-Rib Thoracic Dysplasia 12 |
|
Low-set ears, Atelectasis, Intrauterine growth retardation, Neonatal death, Epicanthus, Hypoplast... |
OMIM:269860 |
Cenani-Lenz Syndrome |
|
Synostosis of joints, Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Elbow disloc... |
ORPHA:3258 |
Intellectual Developmental Disorder, Autosomal Recessive 76 |
|
Feeding difficulties, Precocious puberty in females, Chronic constipation |
OMIM:619931 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Bronchiolitis, Interstitial pneumonitis, Enterocolitis, Recurrent sinopulmonary infections, Decre... |
OMIM:614878 |
Gaucher Disease Type 2 |
|
Respiratory distress, Recurrent respiratory infections, Dysphagia, Abnormal pattern of respiration |
ORPHA:77260 |
Immunodeficiency 110 With Lymphoproliferation |
|
Recurrent upper respiratory tract infections, Recurrent pneumonia, Chronic mucocutaneous candidia... |
OMIM:614868 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Precocious puberty, Clitoral hypertrophy, Long penis, Insulin-resistant diabetes mellitus, Hyperi... |
OMIM:262190 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 2 |
|
Hearing impairment, Abnormal tracheal morphology, Epicanthus, Blepharophimosis, Pulmonary lymphan... |
OMIM:616006 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Irregular menstruation, Diarrhea, Vomiting, Polycystic ovaries, Dysmenorrhea, Oligomenorrhea, Del... |
ORPHA:264580 |
Holzgreve Syndrome |
|
Abnormal morphology of ulna, Hand polydactyly, Abnormal metacarpal morphology, Abnormal rib morph... |
ORPHA:2167 |
Cowden Syndrome 1 |
|
Varicocele, Thyroid adenoma, Hearing impairment, Subcutaneous lipoma, Goiter, Ovarian cyst, Ovari... |
OMIM:158350 |
Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Diabetes mellitus, Polycystic ovaries |
OMIM:608709 |
Smith-Lemli-Opitz Syndrome |
|
Low-set ears, Small scrotum, Hearing impairment, Recurrent otitis media, Cryptorchidism, Epicanth... |
OMIM:270400 |
Wolf-Hirschhorn Syndrome |
|
Abnormal vertebral morphology, Short thumb, Abnormality of the vertebral column, Preaxial hand po... |
ORPHA:280 |
Mucopolysaccharidosis, Type Ivb |
|
Platyspondyly, Constricted iliac wing, Hypoplasia of the odontoid process, Kyphosis, Hypoplasia o... |
OMIM:253010 |
Chand Syndrome |
|
Atelectasis |
ORPHA:1401 |
Global Developmental Delay With Speech And Behavioral Abnormalities |
|
Precocious puberty, Hearing impairment, Supernumerary nipple, Recurrent otitis media, Downslanted... |
OMIM:619243 |
Congenital Pulmonary Lymphangiectasia |
|
Gastroesophageal reflux, Respiratory distress, Pleural effusion, Cyanosis, Growth delay |
ORPHA:2414 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Broad femoral neck, Abnormal diaphysis morphology, Overtubulated long bones, Short tubular bones ... |
ORPHA:85184 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Inflammation of the large intestine, Recurrent otitis media, Pancytopenia, Erythema nodosum, Auto... |
OMIM:614700 |
Stuve-Wiedemann Syndrome 2 |
|
Respiratory distress, Intrauterine growth retardation, Neonatal death, Death in adolescence, Dysp... |
OMIM:619751 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Atopic dermatitis, Recurrent pneumonia, Eczematoid dermatitis, Cutaneous abscess, Chronic mucocut... |
OMIM:618282 |
Lymphoid Interstitial Pneumonia |
|
Lymphocytic interstitial pneumonia |
OMIM:247610 |
Congenital Disorder Of Glycosylation, Type Iy |
|
Joint dislocation, Respiratory distress, Feeding difficulties, Scoliosis, Hypospadias, Macrotia |
OMIM:300934 |
Double Outlet Right Ventricle |
|
Aplasia/Hypoplasia of the thymus, Cyanosis, Abnormality of cartilage of external ear, Tachypnea, ... |
ORPHA:3426 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ivory epiphyses, Hypoplastic ilia, Platyspondyly, Scoliosis, Abnormal epiphysis morphology, Metap... |
ORPHA:85167 |
Bent Bone Dysplasia Syndrome 2 |
|
Thin ribs, Platyspondyly, Hypoplastic acetabulae, Short 1st metacarpal, Short tibia, Hypoplastic ... |
OMIM:620076 |
Precocious Puberty, Central, 1 |
|
Elevated circulating luteinizing hormone level, Hypothyroidism, Elevated circulating follicle sti... |
OMIM:176400 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Premature adrenarche, Precocious puberty, Hypospadias, Gastroesophageal reflux, Vomiting, Decreas... |
ORPHA:96182 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Type I diabetes mellitus, Carpal osteolysis, Abnormal form of the vertebral bodies, Pterygium, Sc... |
ORPHA:371428 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Platyspondyly, Narrow chest, Cone-shaped epiphysis, Abnormal scapula morphology, Iliac crest serr... |
ORPHA:93317 |
Neonatal Marfan Syndrome |
|
Emphysema |
ORPHA:284979 |
Adult Acute Respiratory Distress Syndrome |
|
Pneumonia, Pulmonary edema, Pancreatitis, Pulmonary infiltrates |
ORPHA:70578 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Polycystic ovaries, Diabetes mellitus, Secondary amenorrhea, Dysmenorrhea |
ORPHA:2348 |
22Q11.2 Deletion Syndrome |
|
Low-set ears, Hearing impairment, Cryptorchidism, Epicanthus, Feeding difficulties in infancy, Pa... |
ORPHA:567 |
Rabson-Mendenhall Syndrome |
|
Precocious puberty, Clitoral hypertrophy, Long penis, Insulin-resistant diabetes mellitus, Fastin... |
ORPHA:769 |
Severe Acute Respiratory Syndrome |
|
Acute infectious pneumonia |
ORPHA:140896 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Precocious puberty, Low-set ears, Gastroesophageal reflux, Hearing impairment, Abnormal lung loba... |
ORPHA:369837 |
Avian Influenza |
|
Pneumonia, Myelitis, Hepatitis, Ground-glass opacification, Lymphopenia, Leukopenia, Pleural effu... |
ORPHA:454836 |
Odontochondrodysplasia 1 |
|
Platyspondyly, Genu recurvatum, Biconvex vertebral bodies, Respiratory distress, Mesomelic short ... |
OMIM:184260 |
Immunodeficiency 92 |
|
Pneumonia, Osteomyelitis, Esophagitis, Leukocytosis, Sclerosing cholangitis, Lymphocytosis, Decre... |
OMIM:619652 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Thickened ribs, Diaphyseal sclerosis |
OMIM:122860 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Pneumonia, Lymphadenitis, Chronic mucocutaneous candidiasis, Decreased proportion of CD8-positive... |
ORPHA:911 |
Mucopolysaccharidosis Type 6 |
|
Epiphyseal dysplasia, Broad ribs, Genu valgum, Short neck, Abnormal metaphysis morphology, Kyphos... |
ORPHA:583 |
Kyphomelic Dysplasia |
|
Platyspondyly, Radial bowing, Flared metaphysis, Thoracic hypoplasia, Pterygium, Dumbbell-shaped ... |
OMIM:211350 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Myositis, Recurrent lower respiratory tract infections, Atelectasis |
ORPHA:258 |
Cornelia De Lange Syndrome 6 |
|
Pectus carinatum, Short 1st metacarpal, Down-sloping shoulders, Arachnodactyly, Hip dysplasia, Cl... |
OMIM:620568 |
Osteoporosis-Pseudoglioma Syndrome |
|
Isosexual precocious puberty, Wormian bones, Short stature |
ORPHA:2788 |
Cole-Carpenter Syndrome 2 |
|
Thin ribs, Lambdoidal craniosynostosis, Coronal craniosynostosis, Platyspondyly, Wide cranial sut... |
OMIM:616294 |
Immunodeficiency 43 |
|
Reduced natural killer cell count, Organizing pneumonia, Lung abscess, B lymphocytopenia, Recurre... |
OMIM:241600 |
Oocyte/Zygote/Embryo Maturation Arrest 9 |
|
Abnormality of the menstrual cycle, Oocyte arrest at metaphase I, Female infertility |
OMIM:619011 |
Orofaciodigital Syndrome Viii |
|
Recurrent aspiration pneumonia |
OMIM:300484 |
Multiple Pterygium Syndrome, X-Linked |
|
Thin ribs, Joint dislocation, Short finger, Abnormal cervical curvature, Multiple pterygia, Verte... |
OMIM:312150 |
Auriculocondylar Syndrome 2A |
|
Low-set ears, Cleft at the superior portion of the pinna, Hearing impairment, Respiratory distres... |
OMIM:614669 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Pneumonia, Salmonella osteomyelitis, Lymphadenitis |
ORPHA:319552 |
Kabuki Syndrome 1 |
|
Abnormal vertebral morphology, Low-set ears, Anoperineal fistula, Hearing impairment, Recurrent o... |
OMIM:147920 |
Ciliary Dyskinesia, Primary, 10 |
|
Abnormal respiratory motile cilium morphology, Chronic sinusitis, Chronic otitis media, Recurrent... |
OMIM:612518 |
Acromesomelic Dysplasia 4 |
|
Radial bowing, Prominent deltoid tuberosities, Genu valgum, Beaking of vertebral bodies, Broad to... |
OMIM:619636 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Hypoplasia of the odontoid process, Broad long bones, Broad phalanx, Flat acetabular roof, Short ... |
OMIM:300106 |
46,Xy Complete Gonadal Dysgenesis |
|
Hypogonadotropic hypogonadism, Male pseudohermaphroditism, Testicular dysgenesis, Polycystic ovaries |
ORPHA:242 |
Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Anemia, Recurrent upper respiratory tract infections, Interstitial pneumonitis, Splenomegaly |
OMIM:620296 |
Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Respiratory distress, Feeding difficulties in infancy, Ptosis, Apneic episodes precipitated by il... |
OMIM:605809 |
Mowat-Wilson Syndrome |
|
Multicystic kidney dysplasia, Recurrent otitis media, Genu valgum, Cryptorchidism, Sensorineural ... |
ORPHA:2152 |
Polycystic Ovary Syndrome 1 |
|
Enlarged polycystic ovaries, Amenorrhea, Oligomenorrhea |
OMIM:184700 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Kyphosis, Increased circulating cortisol level, Bruising susceptibility, Pigmented micronodular a... |
OMIM:610475 |
Maffucci Syndrome |
|
Pituitary adenoma, Growth delay, Goiter, Neoplasm of the parathyroid gland, Dysphagia, Parathyroi... |
ORPHA:163634 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Low-set ears, Delayed cranial suture closure, Respiratory distress, Telecanthus, Thick eyebrow, U... |
OMIM:619383 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Platyspondyly, Irregular menstruation, Rhizomelia, Gastroesophageal reflux, Disproportionate shor... |
OMIM:616482 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Recurrent aspiration pneumonia |
ORPHA:2590 |
Fowler Urethral Sphincter Dysfunction Syndrome |
|
Abnormality of the ovary, Polycystic ovaries, Amenorrhea, Oligomenorrhea, Menorrhagia |
ORPHA:2795 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Hypoplastic ilia, Narrow chest, Thoracic hypoplasia, Lateral clavicle hook, Horizontal ribs, Shor... |
OMIM:617895 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Allergic rhinitis, Atopic dermatitis, Recurrent pneumonia, Reduced natural killer cell count, Ecz... |
OMIM:243700 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Atresia of the external auditory canal, Downslanted palpebral fissures, Low-set, posteriorly rota... |
ORPHA:1770 |
Digeorge Syndrome |
|
Low-set ears, Recurrent otitis media, Intervertebral disk degeneration, Ovarian cyst, Blepharophi... |
OMIM:188400 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Low-set ears, Small scrotum, Joint contracture of the hand, Decreased circulating dehydroepiandro... |
OMIM:201750 |
Mucopolysaccharidosis, Type Iiia |
|
Ovoid thoracolumbar vertebrae, Scoliosis, Thickened ribs |
OMIM:252900 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Delayed epiphyseal ossification, Widened greater sciatic notch, Short neck, Horizontal inferior b... |
OMIM:250220 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Recurrent otitis media, Decreased CD4:CD8 ratio, Splenomegaly, Autoimmune hemolytic anemia, Lymph... |
OMIM:618495 |
Presynaptic Congenital Myasthenic Syndromes |
|
Low-set ears, Congenital hip dislocation, Gastroesophageal reflux, Nasal regurgitation, Feeding d... |
ORPHA:98914 |
Congenital Myasthenic Syndrome |
|
Low-set ears, Congenital hip dislocation, Gastroesophageal reflux, Nasal regurgitation, Feeding d... |
ORPHA:590 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1 |
|
Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Aplastic anemia, Pancytopenia,... |
OMIM:614742 |
Sillence Syndrome |
|
Abnormal vertebral morphology, Broad thumb, Intervertebral disk degeneration, Flat acetabular roo... |
ORPHA:3168 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Pectus carinatum, Abnormal hip bone morphology, Hyperlordosis, Abnormal rib morphology, Clinodact... |
ORPHA:3068 |
Oculocerebrorenal Syndrome Of Lowe |
|
Genu valgum, Cryptorchidism, Feeding difficulties in infancy, Patellar dislocation, Chronic otiti... |
ORPHA:534 |
Campomelia, Cumming Type |
|
Clubbing of toes, Abnormal thorax morphology, Bowing of the long bones, Brachydactyly, Abnormal r... |
ORPHA:1318 |
Familial Thyroid Dyshormonogenesis |
|
Thyroid defect in oxidation and organification of iodide, Elevated circulating thyroid-stimulatin... |
ORPHA:95716 |
Phosphoserine Aminotransferase Deficiency |
|
Death in infancy, Feeding difficulties, Apnea, Cyanotic episode |
OMIM:610992 |
Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Respiratory distress, Ptosis, Apneic episodes precipitated by illness, fatigue, stress, Dysphagia... |
OMIM:254210 |
Myhre Syndrome |
|
Precocious puberty, Platyspondyly, Short palpebral fissure, Abnormal penis morphology, Severe sho... |
ORPHA:2588 |
Diaphanospondylodysostosis |
|
Low-set ears, Tracheomalacia, Respiratory distress, Intrauterine growth retardation, Absent in ut... |
OMIM:608022 |
Immunodeficiency 56 |
|
Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic hepatitis due to crypto... |
OMIM:615207 |
Mucolipidosis Iii Alpha/Beta |
|
Shallow acetabular fossae, Broad ribs, Irregular carpal bones, Spondylolisthesis, Short ribs, Car... |
OMIM:252600 |
Cortisone Reductase Deficiency 2 |
|
Low tetrahydrocortisol (THF) plus 5-alpha-THF/tetrahydrocortisone (THE) ratio, Premature pubarche |
OMIM:614662 |
Thrombocytopenia-Absent Radius Syndrome |
|
Broad thumb, Finger syndactyly, Tibial torsion, Absent radius, Cervical ribs, Fibular aplasia, Ap... |
ORPHA:3320 |
Chitayat Syndrome |
|
Tracheomalacia, Respiratory distress, Bronchomalacia, Short stature, Abnormal pulmonary interstit... |
OMIM:617180 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Multicystic kidney dysplasia, Recurrent otitis media, Genu valgum, Cryptorchidism, Sensorineural ... |
ORPHA:261537 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Elevated circulating thyroid-stimulating hormone concentration, Goiter, Respiratory distress, Dec... |
ORPHA:226313 |
Multiple Pterygium Syndrome, Lethal Type |
|
Thin ribs, Joint dislocation, Short finger, Abnormal cervical curvature, Multiple pterygia, Verte... |
OMIM:253290 |
Developmental And Epileptic Encephalopathy 30 |
|
Respiratory distress, Death in infancy, Feeding difficulties |
OMIM:616341 |
Meier-Gorlin Syndrome 1 |
|
Low-set ears, Joint contracture of the hand, Clitoral hypertrophy, Elbow dislocation, Hearing imp... |
OMIM:224690 |
Tetrasomy 5P |
|
Low-set ears, Respiratory distress, Postnatal growth retardation, Upslanted palpebral fissure, Cy... |
ORPHA:3309 |
Tay-Sachs Disease |
|
Precocious puberty, Hearing impairment, Aspiration pneumonia, Limited elbow extension, Ankle clon... |
ORPHA:845 |
Axial Mesodermal Dysplasia Spectrum |
|
Abnormal pelvic girdle bone morphology, Abnormal form of the vertebral bodies, Vertebral segmenta... |
ORPHA:1834 |
Lymphoid Interstitial Pneumonia |
|
Rheumatoid arthritis, Centrilobular ground-glass opacification on pulmonary HRCT, Eczematoid derm... |
ORPHA:79128 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Low-set ears, Sparse eyebrow, Anomalous tracheal cartilage, Hypoplastic cervical vertebrae, Downs... |
ORPHA:35173 |
Woolly Hair Nevus |
|
Precocious puberty, Enlarged vestibular aqueduct |
ORPHA:79414 |
Osteogenesis Imperfecta, Type Viii |
|
Thin ribs, Platyspondyly, Kyphosis, Radial bowing, Slender long bone, Femoral bowing, Tibial bowi... |
OMIM:610915 |
Autosomal Agammaglobulinemia |
|
Chronic otitis media, Hepatitis, Osteomyelitis, Skin rash, Arthritis, Sinusitis, Neutropenia, Con... |
ORPHA:33110 |
Cleidocranial Dysplasia |
|
Hypoplastic scapulae, Abnormal pelvic girdle bone morphology, Abnormal epiphysis morphology, Abno... |
ORPHA:1452 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Low-set ears, Recurrent pneumonia, Sparse lateral eyebrow, Aspiration pneumonia, Respiratory dist... |
ORPHA:314655 |
Brain-Lung-Thyroid Syndrome |
|
Recurrent pneumonia, Growth delay, Elevated circulating thyroid-stimulating hormone concentration... |
ORPHA:209905 |
Congenital Sucrase-Isomaltase Deficiency |
|
Vomiting, Diarrhea, Abdominal colic, Gastroesophageal reflux, Nausea, Constipation, Abdominal dis... |
ORPHA:35122 |
Estrogen Resistance Syndrome |
|
Absence of secondary sex characteristics, Absence of pubertal development, Hyperinsulinemia, Brea... |
ORPHA:785 |
Prune Belly Syndrome |
|
Congenital hip dislocation, Vertebral segmentation defect, Abnormal rib morphology, Pectus excava... |
ORPHA:2970 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Decreased adiponectin level, Progeroid facial appearance, Premature graying of hair, Reduced subc... |
ORPHA:280365 |
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Precocious puberty |
OMIM:619356 |
Hypodontia-Dysplasia Of Nails Syndrome |
|
Polycystic ovaries |
ORPHA:2228 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Irregular menstruation, Inflammation of the large intestine, Diarrhea, Bruising susceptibility, M... |
ORPHA:79259 |
Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Thin ribs, Short distal phalanx of finger, Short 5th finger, Triangular shaped distal phalanges o... |
ORPHA:73230 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Allergic rhinitis, Rheumatoid arthritis, Recurrent otitis media, Psoriasiform dermatitis, Recurre... |
ORPHA:183675 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Cone-shaped epiphysis, Metaphyseal spurs, Thoracic hypoplasia, Preaxial polydactyly, Acetabular s... |
OMIM:613091 |
Greenberg Dysplasia |
|
Fractured rib, Postaxial foot polydactyly, Supernumerary vertebral ossification centers, Barrel-s... |
OMIM:215140 |
Autosomal Dominant Cutis Laxa |
|
Peripheral pulmonary artery stenosis, Bronchiolitis, Emphysema, Pyelonephritis, Bronchiectasis |
ORPHA:90348 |
Craniosynostosis, Herrmann-Opitz Type |
|
Finger syndactyly, Brachydactyly, Split hand, Abnormal rib morphology, Craniosynostosis |
ORPHA:2145 |
Insulin-Resistance Syndrome Type B |
|
Pneumonia, Abnormal circulating leptin concentration, Insulin-resistant diabetes mellitus, Fastin... |
ORPHA:2298 |
Osteogenesis Imperfecta, Type X |
|
Thin ribs, Platyspondyly, Narrow chest, Thoracic hypoplasia, Broad ribs, Genu valgum, Fibular bow... |
OMIM:613848 |
Infantile Systemic Hyalinosis |
|
Severe short stature, Aplasia/Hypoplasia of the thymus, Camptodactyly of finger, Malabsorption, P... |
ORPHA:2176 |
Pyknoachondrogenesis |
|
Unossified sacrum, Short iliac bones, Horizontal ribs, Short ribs, Aplastic pubic bone, Poorly os... |
ORPHA:3003 |
Cantú Syndrome |
|
Platyspondyly, Short distal phalanx of finger, Narrow chest, Finger syndactyly, Broad ribs, Ovoid... |
ORPHA:1517 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Vomiting, Respiratory distress, Telecanthus, Renal cortical cysts, Neonatal death, Nausea, Jaundi... |
OMIM:231680 |
Generalized Glucocorticoid Resistance Syndrome |
|
Precocious puberty, Abnormal circulating testosterone concentration, Increased circulating cortis... |
ORPHA:786 |
Peutz-Jeghers Syndrome |
|
Nasal polyposis, Gastrointestinal hemorrhage, Vomiting, Pancreatic adenocarcinoma, Gastrointestin... |
ORPHA:2869 |
Volvulus Of Midgut |
|
Telecanthus, Neonatal intestinal obstruction, Long palpebral fissure, Constipation, Abdominal dis... |
OMIM:193250 |
Mucopolysaccharidosis, Type Iiib |
|
Ovoid thoracolumbar vertebrae, Thickened ribs |
OMIM:252920 |
Kabuki Syndrome |
|
Cryptorchidism, Sensorineural hearing impairment, Vertebral clefting, Hypospadias, Hip dislocatio... |
ORPHA:2322 |
Frontometaphyseal Dysplasia 1 |
|
Broad phalanges of the hand, Partial fusion of carpals, Carpal synostosis, Genu valgum, Limited e... |
OMIM:305620 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Pneumonia, Recurrent upper respiratory tract infections, Absent natural killer cells, Recurrent o... |
OMIM:600802 |
Idiopathic Pulmonary Hemosiderosis |
|
Reticular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Ground-glass opacification, Hep... |
ORPHA:99931 |
Yellow Nail Syndrome |
|
Rhinitis, Sinusitis, Recurrent respiratory infections, Pleuritis, Bronchiectasis, Neoplasm of the... |
ORPHA:662 |
Poland Syndrome |
|
Small hand, Finger syndactyly, Aplasia/Hypoplasia of the sternum, Aplasia/Hypoplasia of the thumb... |
ORPHA:2911 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Thin ribs, Small hand, Delayed cranial suture closure, Stenosis of the medullary cavity of the lo... |
ORPHA:93324 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Emphysema, Abnormal pulmonary interstitial morphology, Pancytopenia, Anemia |
OMIM:613658 |
Mucopolysaccharidosis, Type Iiic |
|
Ovoid thoracolumbar vertebrae, Beaking of vertebral bodies, Thickened ribs, Kyphoscoliosis |
OMIM:252930 |
Non-Functioning Pituitary Adenoma |
|
Hypopituitarism, Central adrenal insufficiency, Nausea and vomiting, Decreased fertility in femal... |
ORPHA:91349 |
Multiple Synostoses Syndrome 1 |
|
Carpal synostosis, Cutaneous finger syndactyly, Proximal/middle symphalangism of 5th toe, Lower l... |
OMIM:186500 |
Omenn Syndrome |
|
Pneumonia, Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Eosinophilia, Erythroderma... |
ORPHA:39041 |
Toxic Epidermal Necrolysis |
|
Erythema, Gastrointestinal hemorrhage, Abnormal vagina morphology, Respiratory distress, Acute he... |
ORPHA:537 |
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity |
|
Highly arched eyebrow, Tracheomalacia, Atelectasis, Long eyelashes, Telecanthus, Upslanted palpeb... |
OMIM:620371 |
46,Xx Ovotesticular Difference Of Sex Development |
|
Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno... |
ORPHA:2138 |
Hypomyelination Neuropathy-Arthrogryposis Syndrome |
|
Respiratory distress |
ORPHA:2680 |
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome |
|
Acrocyanosis |
ORPHA:86918 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Precocious puberty, Abnormal circulating aldosterone, Increased circulating ACTH level, Congenita... |
OMIM:614736 |
Aromatase Deficiency |
|
Ovarian cyst, Female pseudohermaphroditism, Hypergonadotropic hypogonadism, Primary amenorrhea |
OMIM:613546 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Pneumonia, Abnormally low T cell receptor excision circle level, Reduced natural killer cell coun... |
ORPHA:276 |
Familial Osteodysplasia, Anderson Type |
|
Aplastic clavicle, Bifid femur, Elbow dislocation, Abnormal rib morphology, Abnormal form of the ... |
ORPHA:2769 |
Vertebral Hypersegmentation And Orofacial Anomalies |
|
Supernumerary ribs, Scapular winging, Pectus excavatum, Six lumbar vertebrae |
OMIM:619122 |
Williams Syndrome |
|
Synostosis of joints, Genu valgum, Type II diabetes mellitus, Cryptorchidism, Nausea and vomiting... |
ORPHA:904 |
Carney Complex |
|
Euthyroid multinodular goiter, Follicular thyroid carcinoma, Increased circulating cortisol level... |
ORPHA:1359 |
Rubinstein-Taybi Syndrome 1 |
|
Low-set ears, Hearing impairment, Delayed cranial suture closure, Postnatal growth retardation, C... |
OMIM:180849 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Platyspondyly, Metaphyseal cupping, Scoliosis, Flared metaphysis, Short finger, Femoral bowing, T... |
OMIM:608940 |
Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Hepatos... |
OMIM:618534 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Multicystic kidney dysplasia, Recurrent otitis media, Genu valgum, Cryptorchidism, Sensorineural ... |
ORPHA:261552 |
Fabry Disease |
|
Emphysema, Anemia, Arthritis |
ORPHA:324 |
Neuralgic Amyotrophy |
|
Short stature, Epicanthus, Short palpebral fissure, Acrocyanosis |
ORPHA:2901 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Atrophic gastritis, Recurrent upper respiratory tract infections, Eczematoid dermatitis, Lymphope... |
OMIM:616100 |
Otospondylomegaepiphyseal Dysplasia |
|
Epiphyseal dysplasia, Abnormal vertebral morphology, Abnormal joint morphology, Fibular bowing, S... |
ORPHA:1427 |
Congenital Myopathy 10A, Severe Variant |
|
Gastroesophageal reflux, Camptodactyly of finger, Respiratory distress, Dysphagia, Scoliosis |
OMIM:614399 |
Opsismodysplasia |
|
Metaphyseal cupping, Hypoplasia of the odontoid process, Narrow chest, Posterior rib cupping, Bel... |
OMIM:258480 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Pulmonary artery hypoplasia, Growth delay, Bilateral cryptorchidism, Decreased testicular size, C... |
ORPHA:2326 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Precocious puberty, Disproportionate short stature, Postnatal growth retardation, Intrauterine gr... |
OMIM:210720 |
Congenital Fibrinogen Deficiency |
|
Bruising susceptibility, Hemorrhagic ovarian cyst, Decreased testicular size, Subcutaneous hemorr... |
ORPHA:335 |
Craniometadiaphyseal Dysplasia |
|
Flared metaphysis, Broad long bones, Broad ribs, Genu valgum, Wormian bones, Cubitus valgus, Scol... |
OMIM:269300 |
Rhabdomyosarcoma, Embryonal, 2 |
|
Pleuropulmonary blastoma, Goiter, Ovarian thecoma, Multinodular goiter, Thyroid nodule |
OMIM:180295 |
Pulmonary Capillary Hemangiomatosis |
|
Diffuse alveolar hemorrhage, Centrilobular ground-glass opacification on pulmonary HRCT, Interlob... |
ORPHA:199241 |
Robinow Syndrome |
|
Short distal phalanx of finger, Kyphoscoliosis, Missing ribs, Rib fusion, Bifid distal phalanx of... |
ORPHA:97360 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hearing impairment, Atelectasis, Respiratory distress, Respiratory tract infection, Feeding diffi... |
ORPHA:365 |
Primary Effusion Lymphoma |
|
Abdominal pain, Pleural effusion, Abdominal distention |
ORPHA:48686 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Delayed epiphyseal ossification, Bulging epiphyses, Bulging of the costochondral junction, Fibula... |
OMIM:600081 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Pneumonia, Abnormal T cell count, Recurrent otitis media, Pyoderma, Infectious encephalitis, Pros... |
OMIM:307200 |
Congenital Tracheal Stenosis |
|
Abnormal earlobe morphology, Abnormal lung lobation, Respiratory distress, Abnormal tracheal morp... |
ORPHA:141127 |
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Aplasia/hypoplasia involving bones of the extremities, Abnormal vertebral morphology, Platyspondy... |
ORPHA:93346 |
Venular Insufficiency, Systemic |
|
Cyanosis |
OMIM:192700 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Respiratory distress, Ptosis, Short stature, Poor suck |
OMIM:300580 |
Sulfhemoglobinemia, Congenital |
|
Cyanosis |
OMIM:185460 |
Moebius Syndrome |
|
Respiratory distress, Congenital fibrosis of extraocular muscles, Decreased testicular size, Hypo... |
OMIM:157900 |
Atelosteogenesis Type Ii |
|
Low-set ears, Rhizomelia, Cervical kyphosis, Hypoplastic cervical vertebrae, Elbow dislocation, E... |
ORPHA:56304 |
Radio-Renal Syndrome |
|
Abnormal form of the vertebral bodies, Short neck, Hypoplasia of the radius, Brachydactyly, Abnor... |
ORPHA:3015 |
Cardiospondylocarpofacial Syndrome |
|
Cone-shaped epiphysis, Carpal synostosis, Fusion of middle ear ossicles, Herniation of interverte... |
OMIM:157800 |
Mogs-Cdg |
|
Short palpebral fissure, Nasogastric tube feeding, Respiratory distress, Long eyelashes, Apnea, E... |
ORPHA:79330 |
Methemoglobinemia, Beta Type |
|
Cyanosis |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Cyanosis |
OMIM:617973 |
Fibrous Dysplasia Of Bone |
|
Precocious puberty in females, Increased circulating cortisol level, Hearing impairment, Thyroid ... |
ORPHA:249 |
Congenital Diaphragmatic Hernia |
|
Pulmonary hypoplasia |
ORPHA:2140 |
Pallister-Hall Syndrome |
|
Small scrotum, Auricular tag, Atresia of the external auditory canal, Hydrometrocolpos, Hypopitui... |
ORPHA:672 |
Timothy Syndrome |
|
Pneumonia, Bronchitis |
OMIM:601005 |
Baller-Gerold Syndrome |
|
Lambdoidal craniosynostosis, Abnormal vertebral morphology, Carpal synostosis, Patellar aplasia, ... |
OMIM:218600 |
Opitz Gbbb Syndrome |
|
Low-set ears, Hearing impairment, Cryptorchidism, Feeding difficulties in infancy, Thyroglossal c... |
ORPHA:2745 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Pneumonia |
OMIM:253700 |
Hyperparathyroidism, Transient Neonatal |
|
Low-set ears, Hyperparathyroidism, Gastroesophageal reflux, Respiratory distress, Ovarian cyst, W... |
OMIM:618188 |
Wolman Disease |
|
Acute hepatic failure, Vomiting, Death in infancy, Abdominal distention |
OMIM:620151 |
Pituicytoma |
|
Decreased serum estradiol, Abnormal circulating adrenocorticotropin concentration, Increased circ... |
ORPHA:251623 |
Severe X-Linked Mitochondrial Encephalomyopathy |
|
Respiratory distress, Feeding difficulties in infancy |
ORPHA:238329 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Hearing impairment, Respiratory distress, Nocturnal hypoventilation, Death in childhood, Ankle cl... |
OMIM:211530 |
Mccune-Albright Syndrome |
|
Precocious puberty, Hyperparathyroidism, Pituitary adenoma, Increased circulating cortisol level,... |
OMIM:174800 |
Graft Versus Host Disease |
|
Pneumonia, Inflammatory abnormality of the skin, Hemophagocytosis, Fasciitis, Acute hepatitis, He... |
ORPHA:39812 |
Fanconi Anemia, Complementation Group B |
|
Abnormal vertebral morphology, Low-set ears, Abnormal lung lobation, Hypogonadism, Intrauterine g... |
OMIM:300514 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Abnormal rib morphology |
ORPHA:2772 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Aplasia/Hypoplasia of the radius, Absent thumb, Short tibia, Fibular hypoplasia, Supernumerary ri... |
OMIM:612447 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10 |
|
Bronchiectasis, Osteoarthritis |
OMIM:620080 |
Atelis Syndrome 1 |
|
Eczematoid dermatitis, Leukopenia, Glue ear, Thrombocytopenia, Anemia, Bronchiectasis |
OMIM:620184 |
Combined Oxidative Phosphorylation Deficiency 30 |
|
Gastroesophageal reflux, Decreased liver function, Respiratory distress, Death in infancy, Sensor... |
OMIM:616974 |
Alexander Disease |
|
Precocious puberty, Nausea and vomiting, Hypothyroidism, Ptosis, Hyperlordosis, Dysphagia, Consti... |
ORPHA:58 |
Chromosome 2P16.1-P15 Deletion Syndrome |
|
Low-set ears, Joint contracture of the hand, Hearing impairment, Postnatal growth retardation, Cr... |
OMIM:612513 |
Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Multicystic kidney dysplasia, Hematocolpos, Sparse lateral eyebrow, Downslanted palpebral fissure... |
OMIM:277000 |
Diffuse Alveolar Hemorrhage |
|
Ground-glass opacification, Leukocytosis, Pulmonary infiltrates, Irregular septal thickening on p... |
ORPHA:90060 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Pneumonia, Abnormally low T cell receptor excision circle level, Recurrent upper respiratory trac... |
OMIM:602450 |
Cartilage-Hair Hypoplasia |
|
Asymmetry of the thorax, Abnormal pelvic girdle bone morphology, Metaphyseal cupping, Hypoplasia ... |
OMIM:250250 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Hypoplasia of the odontoid process, Broad long bones, Bell-shaped thorax, Short neck, Broad phala... |
OMIM:271665 |
Seizures, Benign Familial Infantile, 3 |
|
Apnea, Cyanosis |
OMIM:607745 |
Kenny-Caffey Syndrome, Type 1 |
|
Thin ribs, Small hand, Slender long bone, Delayed closure of the anterior fontanelle, Long clavic... |
OMIM:244460 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Central apnea, Cyanosis |
ORPHA:71277 |
Wolf-Hirschhorn Syndrome |
|
Pseudoepiphyses of the metacarpals, Kyphosis, Short thumb, Abnormal form of the vertebral bodies,... |
OMIM:194190 |
Agnathia-Otocephaly Complex |
|
Low-set ears, Conductive hearing impairment, Tracheomalacia, Downslanted palpebral fissures, Resp... |
OMIM:202650 |
Omenn Syndrome |
|
Pneumonia, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Erythroderma, Thrombocyt... |
OMIM:603554 |
Lethal Congenital Contracture Syndrome 1 |
|
Neonatal death, Widening of cervical spinal canal, Pulmonary hypoplasia |
OMIM:253310 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Crohn's disease, Absent circulating B cells, Decreased proportion of class-switched memory B cell... |
OMIM:619705 |
Seizures, Benign Familial Infantile, 1 |
|
Apnea, Cyanosis |
OMIM:601764 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Precocious puberty, Cholelithiasis, Downslanted palpebral fissures, Recurrent otitis media, Genu ... |
OMIM:301066 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6 |
|
Respiratory distress, Recurrent acute respiratory tract infection, Plantar flexion contracture, P... |
OMIM:620011 |
Tsh-Secreting Pituitary Adenoma |
|
Increased circulating prolactin concentration, Central adrenal insufficiency, Nausea and vomiting... |
ORPHA:91347 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Abnormal vertebral morphology, Clinodactyly, Hypoplastic iliac wing, Genu valgum, Corner fracture... |
ORPHA:93315 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Small scrotum, Recurrent upper respiratory tract infections, Recurrent pneumonia, Rhizomelia, Res... |
OMIM:607143 |
Intestinal Dysmotility Syndrome |
|
Decreased intestinal transit time, Diarrhea, Feeding difficulties, Abdominal distention, Projecti... |
OMIM:620045 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Hepatitis, Interstitial pneumonitis, Skin rash, Infectious encephalitis, Pustule, Pulmonary infil... |
ORPHA:139402 |
Immunodeficiency 36 With Lymphoproliferation |
|
Recurrent upper respiratory tract infections, Lymphopenia, Splenomegaly, Chronic lymphatic leukem... |
OMIM:616005 |
Hemochromatosis, Type 1 |
|
Impotence, Azoospermia, Pleural effusion, Arthropathy, Telangiectasia, Hypogonadotropic hypogonad... |
OMIM:235200 |
Marfan Syndrome |
|
Emphysema, Premature osteoarthritis, Pneumothorax, Pulmonary artery dilatation |
OMIM:154700 |
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Respiratory distress |
ORPHA:171703 |
Prolactinoma |
|
Central adrenal insufficiency, Nausea and vomiting, Decreased fertility in females, Elevated circ... |
ORPHA:2965 |
Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Vomiting, Malabsorption, Nausea, Abdominal distention, Dyspepsia, Abdominal pain, Chronic diarrhea |
ORPHA:103907 |
Orofaciodigital Syndrome Iii |
|
Postaxial foot polydactyly, Short sternum, Postaxial hand polydactyly, Pectus excavatum, Kyphosis |
OMIM:258850 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Platyspondyly, Thoracic hypoplasia, Flared metaphysis, Decreased fibular diameter, Short ribs, Mu... |
OMIM:616897 |
Panbronchiolitis, Diffuse |
|
Bronchiectasis |
OMIM:604809 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Intermittent hyperventilation, Feeding difficulties, Precocious puberty, Downslanted palpebral fi... |
ORPHA:163681 |
Congenital Heart Block |
|
Intrauterine growth retardation, Feeding difficulties in infancy, Pleural effusion, Cyanosis |
ORPHA:60041 |
Hereditary Bullous Dystrophy, Macular Type |
|
Pneumonia |
ORPHA:1867 |
Faundes-Banka Syndrome |
|
Lumbar hemivertebrae, Low-set ears, Gastroesophageal reflux, Cupped ear, Conductive hearing impai... |
OMIM:619376 |
Post-Traumatic Pituitary Deficiency |
|
Decreased response to growth hormone stimulation test, Panhypopituitarism, Decreased circulating ... |
ORPHA:95619 |
Roifman-Chitayat Syndrome |
|
Pneumonia, Arthritis |
OMIM:613328 |
Diarrhea 8, Secretory Sodium, Congenital |
|
Inflammation of the large intestine, Secretory diarrhea, Abdominal distention |
OMIM:616868 |
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Low-set ears, Severe short stature, Short palpebral fissure, Growth delay, Camptodactyly of finge... |
ORPHA:3047 |
X-Linked Hypophosphatemia |
|
Flattening of the talar dome, Shortening of the talar neck, Rachitic rosary, Abnormal epiphysis m... |
ORPHA:89936 |
Shwachman-Diamond Syndrome 1 |
|
Narrow chest, Proximal femoral epiphysiolysis, Metaphyseal sclerosis, Proximal femoral metaphysea... |
OMIM:260400 |
Zttk Syndrome |
|
Small hand, Cervical ribs, Rib fusion, Hemivertebrae, Craniosynostosis, Short foot, Scoliosis, Ky... |
OMIM:617140 |
Isolated Atp Synthase Deficiency |
|
Respiratory distress, Hypogonadism, Sensorineural hearing impairment, Hypothyroidism, Ptosis, Sho... |
ORPHA:254913 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Epiphyseal dysplasia, Radial bowing, Carpal synostosis, Genu valgum, Hypoplastic iliac body, Shor... |
OMIM:271640 |
Purine Nucleoside Phosphorylase Deficiency |
|
Pneumonia, Recurrent upper respiratory tract infections, Pure red cell aplasia, Lymphopenia, Otit... |
OMIM:613179 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Precocious puberty, Eversion of lateral third of lower eyelids, Gastroesophageal reflux, Increase... |
ORPHA:438213 |
8P Inverted Duplication/Deletion Syndrome |
|
Precocious puberty, Cryptorchidism, Aplasia/Hypoplasia of the gallbladder, Micropenis, Scoliosis,... |
ORPHA:96092 |
Renpenning Syndrome |
|
Abnormal thumb morphology, Sprengel anomaly, Abnormal rib morphology, Clinodactyly of the 5th fin... |
ORPHA:3242 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Respiratory distress, Cyanosis |
ORPHA:91130 |
46,Xy Sex Reversal 1 |
|
Elevated circulating luteinizing hormone level, Abnormal male external genitalia morphology, Gona... |
OMIM:400044 |
Oculopharyngodistal Myopathy |
|
Recurrent aspiration pneumonia |
ORPHA:98897 |
Gm1-Gangliosidosis, Type I |
|
Hypoplastic vertebral bodies, Short neck, Beaking of vertebral bodies, Scoliosis, Thickened ribs,... |
OMIM:230500 |
Tarp Syndrome |
|
Short palpebral fissure, Prominent antihelix, Hearing impairment, Low-set, posteriorly rotated ea... |
ORPHA:2886 |
Laryngotracheal Angioma |
|
Vomiting, Intercostal retractions, Respiratory distress, Apnea, Cyanosis, Feeding difficulties |
ORPHA:137935 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Emphysema, Pulmonary artery aneurysm, Pulmonary artery dilatation |
OMIM:614437 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Diarrhea, Gastroesophageal reflux, Vomiting, Abnormality of the extraocular muscles, Sensorineura... |
ORPHA:298 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Hearing impairment, Cryptorchidism, Chordee, Osteochondrosis, Hypospadias, Dysphagia, Posterior p... |
ORPHA:268261 |
Neurogenic Arthrogryposis Multiplex Congenita |
|
Ankle flexion contracture, Respiratory distress, Elbow flexion contracture, Acetabular dysplasia,... |
ORPHA:1143 |
Pediatric-Onset Graves Disease |
|
Diarrhea, Graves disease, Goiter, Puberty and gonadal disorders, Intrauterine growth retardation,... |
ORPHA:525731 |
Bacterial Toxic-Shock Syndrome |
|
Pneumonia, Hepatitis, Fasciitis, Osteomyelitis, Respiratory tract infection, Skin rash, Infectiou... |
ORPHA:36234 |
Schneckenbecken Dysplasia |
|
Hypoplastic ilia, Hypoplastic scapulae, Narrow chest, Abnormal form of the vertebral bodies, Fibu... |
ORPHA:3144 |
Mgat2-Cdg |
|
Gastroesophageal reflux, Prominent antihelix, Abnormal earlobe morphology, Downslanted palpebral ... |
ORPHA:79329 |
Sponastrime Dysplasia |
|
Precocious puberty, Platyspondyly, Recurrent pneumonia, Shallow acetabular fossae, Hypospadias, D... |
ORPHA:93357 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Broad ribs, Flaring of rib cage, Joint swelling, Fused cervical vertebrae |
OMIM:612852 |
Acrorenal-Mandibular Syndrome |
|
Thin ribs, Hypoplastic scapulae, Toe syndactyly, Narrow chest, Abnormal sacral segmentation, Rudi... |
OMIM:200980 |
Thyroid Hemiagenesis |
|
Hyperparathyroidism, Thyroid adenoma, Follicular thyroid carcinoma, Graves disease, Elevated circ... |
ORPHA:95719 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Intrauterine growth retardation, Feeding difficulties |
ORPHA:26792 |
Medullary Thyroid Carcinoma |
|
Elevated circulating calcitonin concentration, Diarrhea, Pheochromocytoma, Medullary thyroid carc... |
ORPHA:1332 |
Fraser-Like Syndrome |
|
Subglottic stenosis, Contracture of the proximal interphalangeal joint of the 2nd finger, Ovarian... |
OMIM:229230 |
Marfan Syndrome |
|
Emphysema, Spontaneous pneumothorax, Pulmonary artery dilatation, Arthralgia/arthritis |
ORPHA:558 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Cyanosis, Ptosis, Exertional dyspnea, Orthopnea, Thoracic kyphoscoliosis, Scoliosis |
ORPHA:98913 |
Tricuspid Atresia |
|
Pulmonary artery atresia, Cyanosis |
ORPHA:1209 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Delayed... |
ORPHA:52901 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Abnormal sternum morphology, Broad ribs, Short ribs, Abnormal rib morphology, Postaxial hand poly... |
ORPHA:2519 |
Maternal Uniparental Disomy Of Chromosome 2 |
|
Abnormality of the ankle, Bilateral cryptorchidism, Decreased response to growth hormone stimulat... |
ORPHA:96179 |
Chromosome 8Q22.1 Duplication Syndrome |
|
Genu recurvatum, Short palpebral fissure, Gastroesophageal reflux, Interphalangeal joint contract... |
OMIM:151200 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Respiratory distress, Kyphoscoliosis |
OMIM:619099 |
Antley-Bixler Syndrome |
|
Narrow chest, Camptodactyly of finger, Delayed cranial suture closure, Femoral bowing, Arachnodac... |
ORPHA:83 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Bronchiectasis, Neutropenia, Aspiration pneumonia |
OMIM:618253 |
Poems Syndrome |
|
Increased circulating prolactin concentration, Hypogonadism, Sclerotic vertebral endplates, Prima... |
ORPHA:2905 |
Mosaic Trisomy 8 |
|
Narrow chest, Camptodactyly of finger, Patellar aplasia, Vertebral segmentation defect, Short nec... |
ORPHA:96061 |
Eiken Syndrome |
|
Delayed epiphyseal ossification, Broad femoral neck, Clinodactyly, Long hallux, Broad ribs, Broad... |
OMIM:600002 |
Lig4 Syndrome |
|
Type II diabetes mellitus, Upslanted palpebral fissure, Cryptorchidism, Telangiectasia, Amenorrhe... |
OMIM:606593 |
Congenital Pancreatic Cyst |
|
Anorexia, Abdominal pain, Vomiting, Abdominal distention |
ORPHA:313906 |
Autosomal Dominant Popliteal Pterygium Syndrome |
|
Popliteal pterygium, Toe syndactyly, Finger syndactyly, Split hand, Abnormal rib morphology, Scol... |
ORPHA:1300 |
Alagille Syndrome |
|
Short distal phalanx of finger, Abnormal form of the vertebral bodies, Vertebral segmentation def... |
ORPHA:52 |
Sporadic Creutzfeldt-Jakob Disease |
|
Recurrent aspiration pneumonia |
ORPHA:204 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent pneumonia, Rectal abscess, Recurrent otitis media, Recurrent sinusitis, Neutropenia, B ... |
OMIM:601495 |
Myopathy And Diabetes Mellitus |
|
Respiratory distress, Type I diabetes mellitus, Sensorineural hearing impairment |
ORPHA:2596 |
Bardet-Biedl Syndrome |
|
Inflammation of the large intestine, Hearing impairment, Hydrometrocolpos, Type II diabetes melli... |
ORPHA:110 |
Satoyoshi Syndrome |
|
Abnormality of the uterus, Abnormal joint morphology, Abnormality of the ovary, Abnormality of th... |
ORPHA:3130 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Ankle flexion contracture, Nasogastric tube feeding, Intrauterine growth retardation, Knee flexio... |
ORPHA:284417 |
Histiocytoid Cardiomyopathy |
|
Vomiting, Cyanosis, Polycystic ovaries, Pulmonary edema, Renal cyst, Tachypnea |
ORPHA:137675 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Hearing impairment, Non-obstructive azoospermia, Streak ovary, Cryptorchidism, Aplasia of the ova... |
ORPHA:2232 |
Dysostosis Multiplex, Ain-Naz Type |
|
Severe short stature, Hemivertebrae, Abdominal distention, Flat acetabular roof, Scoliosis, Hip d... |
OMIM:619345 |
Meckel Syndrome 14 |
|
Low-set ears, Cyanosis, Aplasia of the uterus, Ambiguous genitalia, Pneumothorax, Protuberant abd... |
OMIM:619879 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Increased serum serotonin, Diarrhea, Neuroendocrine neoplasm, Anorexia, Facial telangiectasia, He... |
ORPHA:100085 |
Peutz-Jeghers Syndrome |
|
Nasal polyposis, Uterine neoplasm, Intestinal bleeding, Bloody diarrhea, Ovarian cyst, Abdominal ... |
OMIM:175200 |
Trisomy 13 |
|
Abnormal pelvic girdle bone morphology, Narrow chest, Ectrodactyly, Abnormal rib morphology, Post... |
ORPHA:3378 |
Immunodeficiency 58 |
|
Allergic rhinitis, Recurrent upper respiratory tract infections, Recurrent pneumonia, Chronic oti... |
OMIM:618131 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Low-set ears, Short palpebral fissure, Hearing impairment, Respiratory distress, Abnormality of t... |
OMIM:300968 |
Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Elevated circulating thyroid-stimulating hormone concentration, Hearing impairment, Goiter, Type ... |
OMIM:274300 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Respiratory distress, Ptosis, Dysphagia, Growth delay |
OMIM:613561 |
Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Bronchiectasis |
OMIM:615434 |
Immunodeficiency 12 |
|
Recurrent aphthous stomatitis, Skin rash, Abnormal lymphocyte count, Recurrent lower respiratory ... |
OMIM:615468 |
Athyreosis |
|
Constipation, Abdominal distention, Short stature, Growth delay, Feeding difficulties |
ORPHA:95713 |
Myotonic Dystrophy 1 |
|
Cholelithiasis, Respiratory distress, Hypogonadism, Feeding difficulties in infancy, Testicular a... |
OMIM:160900 |
Sclerosteosis 1 |
|
Broad clavicles, Abnormal pelvic girdle bone morphology, Deviation of finger, Broad ribs, Sclerot... |
OMIM:269500 |
Müllerian Aplasia And Hyperandrogenism |
|
Abnormal vagina morphology, Abnormality of the ovary, Thick eyebrow, Protruding ear, Cubitus valg... |
ORPHA:247768 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Thin ribs, Craniosynostosis, Slender long bone, Brachydactyly |
OMIM:618265 |
Hypoadrenocorticism, Familial |
|
Vomiting, Adrenal insufficiency, Apnea, Cyanosis, Feeding difficulties in infancy, Adrenal hypopl... |
OMIM:240200 |
Achondrogenesis, Type Ib |
|
Absent or minimally ossified vertebral bodies, Neonatal short-limb short stature, Stillbirth, Abd... |
OMIM:600972 |
Basal Cell Nevus Syndrome 1 |
|
Short distal phalanx of the thumb, Vertebral wedging, Abnormal sternum morphology, Short ribs, Su... |
OMIM:109400 |
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures |
|
Respiratory distress, Kyphoscoliosis |
OMIM:617977 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Precocious puberty, Growth delay, Short stature, Kyphoscoliosis |
OMIM:163200 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Pneumonia, Splenomegaly, Thrombocytopenia, Hemolytic anemia, Chronic otitis media |
ORPHA:169090 |
1P36 Deletion Syndrome |
|
Scoliosis, Delayed cranial suture closure, Camptodactyly of finger, 11 pairs of ribs, Clinodactyl... |
ORPHA:1606 |
Atelosteogenesis, Type I |
|
Low-set ears, Rhizomelia, Disproportionate short-limb short stature, Elbow dislocation, Stillbirt... |
OMIM:108720 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Pneumonia, Eczematoid dermatitis, Decreased proportion of naive T cells, Aplasia of the thymus, A... |
ORPHA:83471 |
Nipah Virus Disease |
|
Respiratory distress, Nausea and vomiting, Anorexia, Recurrent pharyngitis |
ORPHA:99825 |
Kniest Dysplasia |
|
Platyspondyly, Rhizomelia, Conductive hearing impairment, Tracheomalacia, Respiratory distress, R... |
OMIM:156550 |
Lead Poisoning |
|
Vomiting, Abdominal distention, Decreased male libido, Abnormality of the menstrual cycle, Decrea... |
ORPHA:330015 |
Alpha-Mannosidosis, Adult Form |
|
Pneumonia, Hepatosplenomegaly, Pancytopenia |
ORPHA:309288 |
Laryngotracheoesophageal Cleft |
|
Dyspnea, Recurrent respiratory infections, Cyanosis, Impaired oropharyngeal swallow response |
ORPHA:2004 |
Xylt1-Cdg |
|
Broad thumb, Joint dislocation, Clinodactyly, Flared metaphysis, Broad ribs, Short clavicles, Sho... |
ORPHA:370930 |
Tuberous Sclerosis 2 |
|
Precocious puberty, Hearing impairment, Pulmonary lymphangiomyomatosis, Renal cyst, Hypothyroidis... |
OMIM:613254 |
Vacterl Association With Hydrocephalus |
|
Abnormal vertebral morphology, Absent thumb, Abnormality of the vertebral column, Radial club han... |
OMIM:276950 |
Benign Familial Infantile Epilepsy |
|
Apnea, Cyanosis |
ORPHA:306 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type |
|
Platyspondyly, Thoracolumbar kyphosis, Multiple joint dislocation, Kyphosis, Elbow flexion contra... |
ORPHA:93360 |
Isolated Polycystic Liver Disease |
|
Gastrointestinal hemorrhage, Gastroesophageal reflux, Feeding difficulties in infancy, Abdominal ... |
ORPHA:2924 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Pneumonia, Recurrent pneumonia, Inflammatory abnormality of the skin, Chronic mucocutaneous candi... |
OMIM:102700 |
Chromosome 17Q12 Deletion Syndrome |
|
Highly arched eyebrow, Sparse eyebrow, Multicystic kidney dysplasia, Downslanted palpebral fissur... |
OMIM:614527 |
Microsporidiosis |
|
Pneumonia, Bronchiolitis, Vomiting, Bronchitis, Abnormality of the parathyroid gland, Abnormal tr... |
ORPHA:2552 |
Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome |
|
Small scrotum, Bifid scrotum, Downslanted palpebral fissures, Low-set, posteriorly rotated ears, ... |
ORPHA:324540 |
Small Bowel Atresia |
|
Vomiting, Intrauterine growth retardation, Abdominal distention, Short stature, Feeding difficulties |
ORPHA:1201 |
Van Den Ende-Gupta Syndrome |
|
Thin ribs, Hypoplastic scapulae, Joint contracture of the hand, Long metacarpals, Long hallux, Ar... |
OMIM:600920 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Low-set ears, Diarrhea, Vomiting, Decreased liver function, Decreased circulating T4 concentratio... |
OMIM:608104 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Aspiration pneumonia |
ORPHA:216866 |
Ellis-Van Creveld Syndrome |
|
Pectus carinatum, Capitate-hamate fusion, Postaxial foot polydactyly, Narrow chest, Hypoplastic i... |
OMIM:225500 |
Aromatase Deficiency |
|
Female infertility, Ambiguous genitalia, female, Genu valgum, Type II diabetes mellitus, Cryptorc... |
ORPHA:91 |
Martsolf Syndrome 1 |
|
Low-set ears, Tracheomalacia, Talipes valgus, Downslanted palpebral fissures, Lumbar hyperlordosi... |
OMIM:212720 |
Immunodeficiency 113 With Autoimmunity And Autoinflammation |
|
Minimal change glomerulonephritis, Intraalveolar phospholipid accumulation, Eczematoid dermatitis... |
OMIM:620565 |
Oculocerebrofacial Syndrome, Kaufman Type |
|
Short palpebral fissure, Clitoral hypertrophy, Respiratory distress, Thin eyebrow, Telecanthus, U... |
ORPHA:2707 |
Microcephalic Primordial Dwarfism, Dauber Type |
|
Subglottic stenosis, Madelung deformity, Lumbar scoliosis, Severe postnatal growth retardation, B... |
ORPHA:319675 |
Gaucher Disease, Perinatal Lethal |
|
Low-set ears, Pulmonary hypoplasia, Hepatic failure, Respiratory distress, Intrauterine growth re... |
OMIM:608013 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Inflammatory abnormality of the skin, Psoriasiform dermatitis, Crusting erythematous dermatitis, ... |
ORPHA:37042 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Delayed epiphyseal ossification, Bulging epiphyses, Bulging of the costochondral junction, Fibula... |
OMIM:241530 |
Selective Igm Deficiency |
|
Allergic rhinitis, Rheumatoid arthritis, Lymphadenitis, Decreased proportion of CD8-positive T ce... |
ORPHA:331235 |
Congenital Disorder Of Glycosylation, Type Ix |
|
Small scrotum, Respiratory distress, Intrauterine growth retardation, Cryptorchidism, Death in ch... |
OMIM:615597 |
Ovarian Fibroma |
|
Abnormality of the ovary, Gonadal calcification, Pleural effusion, Ovarian fibroma, Peritonitis, ... |
ORPHA:314473 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Decreased proportion of memory B cells, Chronic mucocutaneous candidiasis, Recurrent respiratory ... |
ORPHA:79124 |
Ascher Syndrome |
|
Goiter, Upper eyelid edema, Ptosis, Hypothyroidism, Abnormal eyelid morphology, Blepharophimosis |
ORPHA:1253 |
Adult-Onset Still Disease |
|
Neutrophilia, Hepatitis, Interstitial pneumonitis, Skin rash, Leukocytosis, Splenomegaly, Anemia,... |
ORPHA:829 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Clitoral hypertrophy, Long penis, Precocious puberty in males, Congenital adrenal hyperplasia, De... |
OMIM:202010 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Low-set ears, Respiratory distress, Telecanthus, Protuberant abdomen, Short stature, Flat acetabu... |
OMIM:617102 |
Diffuse Cutaneous Systemic Sclerosis |
|
Gastroesophageal reflux, Xerostomia, Malabsorption, Nausea and vomiting, Pulmonary infiltrates, T... |
ORPHA:220393 |
Q Fever |
|
Pneumonia, Granuloma, Hepatitis, Osteomyelitis, Hepatosplenomegaly, Pleural effusion, Cholecystit... |
ORPHA:781 |
Bronchial Neuroendocrine Tumor |
|
Pneumonia, Abnormal pulmonary interstitial morphology |
ORPHA:97287 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Intestinal pseudo-obstruction, Malnutrition, Malabsorption, Gastrointestinal dysmotility, Constip... |
OMIM:613662 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Nasal polyposis, Gastroesophageal reflux, Abnormal pleura morphology, Cutis marmorata, Nausea and... |
ORPHA:183 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Crazy paving pattern, Intraalveolar phospholipid accumulation, Cyanosis, Dyspnea, Hypoxemia |
ORPHA:747 |
Perrault Syndrome 4 |
|
Decreased serum estradiol, Progressive sensorineural hearing impairment, Cubitus valgus, Hypoplas... |
OMIM:615300 |
Congenital Disorder Of Glycosylation, Type Iu |
|
Respiratory distress, Death in infancy, Scoliosis, Feeding difficulties |
OMIM:615042 |
Tuberous Sclerosis 1 |
|
Precocious puberty, Pulmonary lymphangiomyomatosis, Renal cyst, Hypothyroidism, Adenoma sebaceum |
OMIM:191100 |
Adiposis Dolorosa |
|
Constipation, Abdominal distention |
OMIM:103200 |
Arboleda-Tham Syndrome |
|
Low-set ears, Enlarged proximal interphalangeal joints, Recurrent otitis media, Underdeveloped tr... |
OMIM:616268 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Respiratory distress, Vomiting, Diarrhea, Feeding difficulties |
OMIM:612075 |
Lethal Congenital Contracture Syndrome 10 |
|
Narrow chest, Broad ribs, Overlapping fingers, Femoral bowing, Thoracic scoliosis, Short neck, Ad... |
OMIM:617022 |
Mucopolysaccharidosis, Type Vi |
|
Epiphyseal dysplasia, Pectus carinatum, Hypoplastic acetabulae, Hypoplasia of the odontoid proces... |
OMIM:253200 |
Chronic Pneumonitis Of Infancy |
|
Intercostal retractions, Respiratory distress, Ground-glass opacification, Cyanosis, Tachypnea, D... |
ORPHA:91359 |
Mucoepithelial Dysplasia, Hereditary |
|
Pneumonia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Keratoconjunctivitis, Eosinoph... |
OMIM:158310 |
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Elevated circulating 17-hydroxyprogesterone concentration, Microphallus, Bifid scrotum, Adrenal i... |
OMIM:201810 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged polycystic ovaries, Elevated circulating growth hormone concentration, Insulin-resistant... |
ORPHA:90301 |
Premature Ovarian Failure 15 |
|
Irregular menstruation, Oligomenorrhea, Elevated circulating follicle stimulating hormone level, ... |
OMIM:618096 |
Renal Tubular Dysgenesis |
|
Pulmonary hypoplasia |
OMIM:267430 |
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Joint contracture of the hand, Chylothorax, Nasogastric tube feeding, Respiratory distress, Knee ... |
OMIM:620278 |
Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Macrotia, Respiratory distress, Intrauterine growth retardation, Aplasia/Hypoplasia of the eyebro... |
ORPHA:261304 |
Mucopolysaccharidosis, Type Vii |
|
Platyspondyly, Thoracolumbar kyphosis, Pectus carinatum, Hypoplasia of the odontoid process, Ante... |
OMIM:253220 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Clitoral hypertrophy, Macrotia, Decreased serum leptin, Hyperinsulinemia, Labial hypertrophy, Dec... |
OMIM:269700 |
Hurler Syndrome |
|
Abnormal vertebral morphology, Abnormal epiphysis morphology, Abnormal clavicle morphology, Abnor... |
ORPHA:93473 |
Multiple Endocrine Neoplasia Type 1 |
|
Increased serum serotonin, Diarrhea, Increased circulating cortisol level, Pituitary prolactin ce... |
ORPHA:652 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Platyspondyly, Polysyndactyly of hallux, Pectus carinatum, Narrow chest, Postaxial polysyndactyly... |
OMIM:263520 |
Acquired Methemoglobinemia |
|
Vomiting, Respiratory distress, Cyanosis, Dyspnea, Abdominal pain, Hypoxemia |
ORPHA:464453 |
Thyroid Lymphoma |
|
Goiter, Respiratory distress, Hashimoto thyroiditis, Hypothyroidism, Hyperthyroidism, Dyspnea, Dy... |
ORPHA:97285 |
Riddle Syndrome |
|
Pneumonia, Recurrent pneumonia, Bronchitis, Otitis media, Recurrent sinusitis, Chronic sinusitis,... |
ORPHA:420741 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Aspiration pneumonia |
ORPHA:79264 |
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type |
|
Vomiting, Diarrhea, Respiratory distress, Short stature, Jaundice, Growth delay, Feeding difficul... |
OMIM:250940 |
Otopalatodigital Syndrome Type 2 |
|
Narrow chest, Synostosis of carpal bones, Elbow dislocation, Short thumb, Carpal synostosis, Prea... |
ORPHA:90652 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Thoracolumbar kyphosis, Laryngotracheal stenosis, Recurrent pneumonia, Disproportionate short sta... |
ORPHA:508533 |
Achondroplasia |
|
Rhizomelia, Neonatal short-limb short stature, Conductive hearing impairment, Respiratory distres... |
OMIM:100800 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Clitoral hypertrophy, Macrotia, Decreased serum leptin, Hyperinsulinemia, Labial hypertrophy, Red... |
OMIM:608594 |
Synaptic Congenital Myasthenic Syndromes |
|
Bilateral ptosis, Respiratory distress, Hypoventilation, Limited wrist extension, Ptosis, Exertio... |
ORPHA:98915 |
Fraser Syndrome 1 |
|
Low-set ears, Clitoral hypertrophy, Atresia of the external auditory canal, Abnormal middle ear m... |
OMIM:219000 |
Sacral Agenesis With Vertebral Anomalies |
|
Abnormal vertebral morphology, Absence of the sacrum, Vertebral clefting, Neonatal death |
OMIM:615709 |
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Nasogastric tube feeding, Respiratory distress, External genital hypoplasia, Recurrent respirator... |
ORPHA:329178 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Gastroesophageal reflux, Hypopnea, Vomiting, Respiratory distress, Apnea, Cyanosis, Death in chil... |
OMIM:618426 |
Pgm3-Cdg |
|
Allergic rhinitis, Abnormal CD4:CD8 ratio, Lymphopenia, Esophagitis, Decreased proportion of CD4-... |
ORPHA:443811 |
Osteogenesis Imperfecta, Type Vii |
|
Narrow chest, Delayed cranial suture closure, Crumpled long bones, Multiple rib fractures, Wormia... |
OMIM:610682 |
Agammaglobulinemia, X-Linked |
|
Recurrent pneumonia, Conjunctivitis, Recurrent otitis media, Pyoderma, Epididymitis, Recurrent si... |
OMIM:300755 |
Meier-Gorlin Syndrome 3 |
|
Low-set ears, Small scrotum, Clitoral hypertrophy, Patellar aplasia, Cryptorchidism, Aplasia/Hypo... |
OMIM:613803 |
Kagami-Ogata Syndrome |
|
Thin ribs, Bell-shaped thorax, Kyphoscoliosis, Long fingers, Long clavicles, Coxa valga |
OMIM:608149 |
Good Syndrome |
|
Abnormal leukocyte morphology, Thrombocytopenia, Sinusitis, Anemia, Recurrent respiratory infecti... |
ORPHA:169105 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Delayed epiphyseal ossification, Subperiosteal bone resorption, Bulging epiphyses, Bulging of the... |
OMIM:264700 |
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency |
|
Pancreatitis, Aspiration pneumonia |
ORPHA:431361 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Cyanosis, Tachypnea, Maternal diabetes, Hypoxemia, Anomalous pulmonary venous return |
ORPHA:860 |
Laryngomalacia |
|
Respiratory distress, Abnormal tracheal morphology |
OMIM:150280 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Abnormal vertebral morphology, Hearing impairment, Aspiration pneumonia, Sensorineural hearing im... |
ORPHA:444077 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Precocious puberty, Rhizomelia, Cryptophthalmos, Long eyelashes, Epicanthus, Recurrent patellar d... |
OMIM:615877 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Ulnar deviation of finger, Finger syndactyly, Camptodactyly of finger, Arachnodactyly, Tapered fi... |
ORPHA:2215 |
Prader-Willi Syndrome Due To Translocation |
|
Respiratory distress, Decreased response to growth hormone stimulation test, External genital hyp... |
ORPHA:177907 |
Methemoglobinemia And Ambiguous Genitalia |
|
Elevated circulating luteinizing hormone level, Bifid scrotum, Decreased circulating dehydroepian... |
OMIM:250790 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Increased pituitary glycoprotein hormone alpha subunit level, Growth delay, Increased circulating... |
ORPHA:90674 |
Folinic Acid-Responsive Seizures |
|
Respiratory distress, Apnea, Abdominal distention, Sensorineural hearing impairment |
ORPHA:79097 |
Camptodactyly Syndrome, Guadalajara Type 3 |
|
Small hand, Broad femoral neck, Thickened cortex of long bones, Short neck, Abnormal rib morpholo... |
ORPHA:488434 |
17Q11 Microdeletion Syndrome |
|
Precocious puberty, Low-set ears, Elevated circulating parathyroid hormone level, Beaking of vert... |
ORPHA:97685 |
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome |
|
Thin ribs |
ORPHA:456328 |
Bifid Nose With Or Without Anorectal And Renal Anomalies |
|
Precocious puberty, Low-set ears, Thick eyebrow, Overfolded helix, Rectovaginal fistula, Posterio... |
OMIM:608980 |
Mercury Poisoning |
|
Respiratory distress, Interstitial pneumonitis, Episodic abdominal pain, Episodic vomiting, Anore... |
ORPHA:330021 |
Alström Syndrome |
|
Testicular fibrosis, Decreased circulating T4 concentration, Hyperinsulinemia, Type II diabetes m... |
ORPHA:64 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Coat hanger sign of ribs, Thoracic hypoplasia |
ORPHA:254534 |
Occipital Horn Syndrome |
|
Platyspondyly, Pectus carinatum, Broad clavicles, Narrow chest, Persistent open anterior fontanel... |
OMIM:304150 |
Orofaciodigital Syndrome I |
|
Low-set ears, Hearing impairment, Downslanted palpebral fissures, Telecanthus, Hepatic cysts, Ova... |
OMIM:311200 |
Malaria |
|
Respiratory distress, Nausea and vomiting |
ORPHA:673 |
Hereditary Methemoglobinemia |
|
Exertional dyspnea, Cyanosis |
ORPHA:621 |
Mitochondrial Pyruvate Carrier Deficiency |
|
Respiratory distress, Epicanthus |
OMIM:614741 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Precocious puberty, Platyspondyly, Type I diabetes mellitus, Growth delay, Sensorineural hearing ... |
OMIM:619269 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Downslanted palpebral fissures, Recurrent otitis media, Cryptorchidism, Cyanosis, Protruding ear,... |
ORPHA:3304 |
Premature Ovarian Failure 18 |
|
Irregular menstruation, Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, ... |
OMIM:619203 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Oral-pharyngeal dysphagia, Sensorineural hearing impairment, Premature thelarche, Hypothyroidism,... |
OMIM:616878 |
Thyroid Hormone Resistance, Generalized, Autosomal Dominant |
|
Increased circulating free T4 concentration, Impaired sensitivity to thyroid hormone, Increased c... |
OMIM:188570 |
Oculocerebrocutaneous Syndrome |
|
Short distal phalanx of finger, Congenital hip dislocation, Finger syndactyly, Missing ribs, Hand... |
ORPHA:1647 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Narrow chest, Thoracic dysplasia, Irregular epiphyses, Hypoplastic iliac wing, Hypoplastic pelvis... |
OMIM:208500 |
Partial Androgen Insensitivity Syndrome |
|
Elevated circulating luteinizing hormone level, Clitoral hypertrophy, Increased serum estradiol, ... |
ORPHA:90797 |
Gm1 Gangliosidosis Type 1 |
|
Platyspondyly, Pectus carinatum, Beaking of vertebral bodies T12-L3, Broad long bone diaphyses, A... |
ORPHA:79255 |
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Sparse eyebrow, Downslanted palpebral fissures, Respiratory distress, Sensorineural hearing impai... |
OMIM:606164 |
Pendred Syndrome |
|
Goiter, Congenital sensorineural hearing impairment, Thyroid carcinoma, Compensated hypothyroidis... |
OMIM:274600 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Abnormal vertebral morphology, 11 pairs of ribs, Hemivertebrae |
ORPHA:77298 |
Acute Radiation Syndrome |
|
Inflammatory abnormality of the skin, Lymphopenia, Interstitial pneumonitis, Thrombocytopenia, Gr... |
ORPHA:454831 |
Peritoneal Cystic Mesothelioma |
|
Metrorrhagia, Peritonitis, Constipation, Dyspareunia, Abdominal distention, Abdominal pain, Menor... |
ORPHA:168816 |
Thyroid Dyshormonogenesis 1 |
|
Constipation, Hypothyroidism, Growth delay, Goiter |
OMIM:274400 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Radial bowing, Aplasia/Hypoplasia of the pubic bone, Fibular aplasia, Humeroradial synostosis, Ba... |
OMIM:276820 |
Mucopolysaccharidosis-Plus Syndrome |
|
Recurrent pneumonia, Respiratory distress, Long eyelashes, Telecanthus, Acetabular dysplasia, Dea... |
OMIM:617303 |
X-Linked Dystonia-Parkinsonism |
|
Aspiration pneumonia |
ORPHA:53351 |
Brucellosis |
|
Arteritis, Sacroiliac arthritis, Hypersplenism, Knee osteoarthritis, Glomerulonephritis, Endocard... |
ORPHA:1304 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Low-set ears, Respiratory distress, Intrauterine growth retardation, Dysphagia, Feeding difficulties |
ORPHA:89844 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Broad thumb, Toe syndactyly, Shallow acetabular fossae, Hypoplastic iliac wing, Short neck, Aplas... |
OMIM:609945 |
Spastic Paraplegia-Precocious Puberty Syndrome |
|
Hyperplasia of the Leydig cells, Precocious puberty in males |
ORPHA:2826 |
Stuve-Wiedemann Syndrome 1 |
|
Thin ribs, Short tibia, Metaphyseal rarefaction, Bowing of the long bones, Hypoplastic iliac body... |
OMIM:601559 |
Gonadoblastoma |
|
Ovarian gonadoblastoma, Abnormality of the ovary, Gonadal calcification, Ambiguous genitalia, Inc... |
ORPHA:206484 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Precocious puberty, Neonatal insulin-dependent diabetes mellitus, Abnormal earlobe morphology, Po... |
ORPHA:96191 |
Thyroid Dyshormonogenesis 3 |
|
Compensated hypothyroidism, Increased T3/T4 ratio, Thyroid carcinoma, Goiter |
OMIM:274700 |
Stt3B-Cdg |
|
Small scrotum, Respiratory distress, Intrauterine growth retardation, Cryptorchidism, Micropenis,... |
ORPHA:370924 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Respiratory distress, Lumbar hyperlordosis, Dyspnea, Abdominal pain, Scoliosis |
ORPHA:86812 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Prominent antihelix, Growth delay, Joint contracture of the 5th finger, Long eyebrows, Acrocyanos... |
OMIM:614407 |
Kleefstra Syndrome |
|
Hearing impairment, Supernumerary nipple, Cryptorchidism, Hypospadias, Chronic otitis media, Bowe... |
ORPHA:261494 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Pneumonia, Recurrent respiratory infections |
ORPHA:98905 |
Cardiomyopathy, Dilated, 1Gg |
|
Respiratory distress |
OMIM:613642 |
Perrault Syndrome 6 |
|
Irregular menstruation, Streak ovary, Sensorineural hearing impairment, Primary amenorrhea, Prema... |
OMIM:617565 |
Restrictive Dermopathy 2 |
|
Gastroesophageal reflux, Respiratory distress, Intrauterine growth retardation, Cyanosis, Feeding... |
OMIM:619793 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Ectopic ovary, Abnormal form of the vertebral bodies, Hearing impairment, Aplasia of the ovary, V... |
ORPHA:3109 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Low-set ears, Conductive hearing impairment, Atresia of the external auditory canal, Downslanted ... |
OMIM:610536 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Premature adrenarche, Recurrent upper respiratory tract infections, Central hypothyroidism, Incre... |
ORPHA:293987 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Absent thumb, Slender long bone, Cervical ribs, Lumbar hyperlordosis, Kyphoscoliosis, Rib fusion,... |
ORPHA:500150 |
H Syndrome |
|
Hearing impairment, Hypogonadism, Abnormal eyebrow morphology, Azoospermia, Upper eyelid edema, D... |
ORPHA:168569 |
Idiopathic Neonatal Atrial Flutter |
|
Respiratory distress, Tachypnea, Feeding difficulties in infancy, Maternal diabetes |
ORPHA:45452 |
Congenital Disorder Of Glycosylation, Type Ie |
|
Ankle flexion contracture, Downslanted palpebral fissures, Respiratory distress, Knee flexion con... |
OMIM:608799 |
Thyroid Cancer, Nonmedullary, 4 |
|
Ovarian neoplasm, Prostate cancer, Papillary thyroid carcinoma, Goiter |
OMIM:616534 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Thin ribs, Genu recurvatum, Joint contracture of the hand, Pectus carinatum, Genu valgum, Arachno... |
OMIM:182212 |
Phakomatosis Pigmentokeratotica |
|
Precocious puberty, Pheochromocytoma, Scoliosis, Cryptorchidism |
ORPHA:2874 |
Japanese Encephalitis |
|
Genu recurvatum, Diarrhea, Vomiting, Abnormal pattern of respiration, Respiratory distress, Elbow... |
ORPHA:79139 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Diarrhea, Gastroesophageal reflux, Vomiting, Growth delay, Recurrent infections due to aspiration... |
OMIM:223900 |
Thyroid Dyshormonogenesis 2A |
|
Thyroid defect in oxidation and organification of iodide, Decreased circulating T4 concentration,... |
OMIM:274500 |
Thyroid Dyshormonogenesis 5 |
|
Hypothyroidism, Growth delay, Goiter |
OMIM:274900 |
Thyroid Dyshormonogenesis 4 |
|
Hypothyroidism, Growth delay, Goiter |
OMIM:274800 |
Congenital Myopathy 22B, Severe Fetal |
|
Thin ribs, Tapered toe, Shoulder flexion contracture, Slender long bone, Thoracic hypoplasia, Elb... |
OMIM:620369 |
Necrotizing Enterocolitis |
|
Diarrhea, Vomiting, Hypoactive bowel sounds, Apnea, Cyanosis, Peritonitis, Abdominal rigidity, Ab... |
ORPHA:391673 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Abnormal vertebral morphology, Abnormality of the vertebral column, Neonatal death, Tracheoesopha... |
OMIM:314390 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Vomiting, Diarrhea, Respiratory distress, Reye syndrome-like episodes, Nausea, Feeding difficulti... |
ORPHA:927 |
Benign Familial Neonatal Epilepsy |
|
Circumoral cyanosis, Apnea, Gastroesophageal reflux |
ORPHA:1949 |
Myhre Syndrome |
|
Platyspondyly, Laryngotracheal stenosis, Low-set ears, Hearing impairment, Enlarged vertebral ped... |
OMIM:139210 |
Auriculocondylar Syndrome |
|
Abnormality of the crus of the helix, Hearing impairment, Question mark ear, Aplasia/Hypoplasia o... |
ORPHA:137888 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Short 5th finger, Camptodactyly of finger, 11 pairs of ribs, Rib fusion, Delayed closure of the a... |
OMIM:607872 |
Graves Disease |
|
Graves disease, Goiter, Increased circulating free T3, Increased circulating free T4 concentratio... |
OMIM:275000 |
Campomelic Dysplasia |
|
Low-set ears, Hypoplastic cervical vertebrae, Hearing impairment, Contracture of the distal inter... |
OMIM:114290 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Ectopic posterior pituitary, Delayed cranial suture closure, Hypopituitarism, Decreased circulati... |
ORPHA:226307 |
Steinfeld Syndrome |
|
Abnormal vertebral morphology, Abnormality of the vertebral column, Missing ribs, Aplasia/Hypopla... |
OMIM:184705 |
Cerebrofacioarticular Syndrome |
|
Conductive hearing impairment, Tracheomalacia, Abnormal tracheal morphology, Absence of pubertal ... |
ORPHA:314679 |
Sepsis In Premature Infants |
|
Diarrhea, Vomiting, Decreased liver function, Functional abnormality of the gastrointestinal trac... |
ORPHA:90051 |
Desmoplastic Small Round Cell Tumor |
|
Ileus, Nausea and vomiting, Testicular neoplasm, Abdominal distention, Abdominal pain, Ovarian ne... |
ORPHA:83469 |
Muscular Dystrophy, Congenital, With Or Without Seizures |
|
Type I diabetes mellitus, Progressive hearing impairment, Respiratory distress, Abdominal pain, D... |
OMIM:620166 |
Familial Papillary Or Follicular Thyroid Carcinoma |
|
Nodular goiter, Follicular thyroid carcinoma, Papillary thyroid carcinoma, Goiter |
ORPHA:319487 |
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome |
|
Asymmetry of the thorax, Aplasia/Hypoplasia of the phalanges of the toes, Abnormal pelvic girdle ... |
ORPHA:1112 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Pneumonia, Rheumatoid arthritis, Recurrent otitis media, Lymphopenia, Recurrent sinusitis, T lymp... |
OMIM:607944 |
Orofaciodigital Syndrome Ix |
|
Recurrent aspiration pneumonia |
OMIM:258865 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Narrow chest, Short tibia, Preaxial polydactyly, Horizontal ribs, Long thorax, Fibular hypoplasia... |
OMIM:617925 |
Tolchin-Le Caignec Syndrome |
|
Precocious puberty, Low-set ears, Short palpebral fissure, Hooded eyelid, Thick eyebrow, Sensorin... |
OMIM:618971 |
Idiopathic Hypereosinophilic Syndrome |
|
Ankle swelling, Vomiting, Abdominal distention, Angioedema, Respiratory distress, Cutis marmorata... |
ORPHA:3260 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Thin ribs, Lumbar hemivertebrae, Thin metatarsal cortices, Thin metacarpal cortices, Slender long... |
ORPHA:2463 |
Mohr-Tranebjaerg Syndrome |
|
Aspiration pneumonia |
ORPHA:52368 |
Gray Platelet Syndrome |
|
Abnormality of the menstrual cycle, Bruising susceptibility |
ORPHA:721 |
Odontochondrodysplasia |
|
Platyspondyly, Respiratory distress, Death in infancy, Short stature, Scoliosis |
ORPHA:166272 |
Schwartz-Jampel Syndrome |
|
Elbow dislocation, Genu valgum, Hip contracture, Bowing of the long bones, Short neck, Sprengel a... |
ORPHA:800 |
Ethylene Glycol Poisoning |
|
Vomiting, Abnormal pattern of respiration, Cyanosis, Episodic respiratory distress, Pulmonary ede... |
ORPHA:31826 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Respiratory distress, Neuromuscular dysphagia |
ORPHA:240085 |
Cyanosis, Transient Neonatal |
|
Jaundice, Cyanosis |
OMIM:613977 |
Panhypophysitis |
|
Increased circulating prolactin concentration, Abnormal posterior pituitary morphogenesis, Sensor... |
ORPHA:95513 |
Pulmonary Arteriovenous Malformation |
|
Gastrointestinal infarctions, Pulmonary hemorrhage, Hemothorax, Cyanosis, Telangiectasia, Dyspnea... |
ORPHA:2038 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Irregular menstruation, Highly arched eyebrow, Female infertility, Cupped ear, Telecanthus, Ameno... |
OMIM:110100 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Pneumonia, Multicystic kidney dysplasia, Vomiting, Malnutrition, Respiratory distress, Laryngeal ... |
ORPHA:79404 |
Alstrom Syndrome |
|
Irregular menstruation, Recurrent pneumonia, Progressive sensorineural hearing impairment, Insuli... |
OMIM:203800 |
Floating-Harbor Syndrome |
|
Precocious puberty, Low-set ears, Varicocele, Gastroesophageal reflux, Conductive hearing impairm... |
ORPHA:2044 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Thin ribs |
OMIM:614833 |
46,Xy Partial Gonadal Dysgenesis |
|
Elevated circulating luteinizing hormone level, Clitoral hypertrophy, Abnormal vagina morphology,... |
ORPHA:251510 |
Adnp Syndrome |
|
Low-set ears, Recurrent upper respiratory tract infections, Gastroesophageal reflux, Vomiting, Or... |
ORPHA:404448 |
Matthew-Wood Syndrome |
|
Abnormal lung morphology, Abnormal spleen morphology, Pulmonary hypoplasia |
ORPHA:2470 |
Al Amyloidosis |
|
Gastrointestinal hemorrhage, Xerostomia, Bruising susceptibility, Gastroparesis, Abdominal disten... |
ORPHA:85443 |
Adenohypophysitis |
|
Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr... |
ORPHA:95512 |
Genetic Transient Congenital Hypothyroidism |
|
Thyroid defect in oxidation and organification of iodide, Elevated circulating thyroid-stimulatin... |
ORPHA:226316 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Low-set ears, Short palpebral fissure, Cupped ear, Hooded eyelid, Respiratory distress, Intrauter... |
OMIM:612863 |
Arterial Tortuosity Syndrome |
|
Short palpebral fissure, Gastroesophageal reflux, Respiratory distress, Esophagitis, Pulmonary ar... |
ORPHA:3342 |
Gracile Bone Dysplasia |
|
Thin ribs, Slender long bone, Brachydactyly, Flared metaphysis |
OMIM:602361 |
Acquired Generalized Lipodystrophy |
|
Hyperinsulinemia, Progeroid facial appearance, Insulin-resistant diabetes mellitus, Polycystic ov... |
ORPHA:79086 |
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Respiratory distress, Nasogastric tube feeding in infancy, Poor suck |
ORPHA:254864 |
Ear-Patella-Short Stature Syndrome |
|
Low-set ears, Clitoral hypertrophy, Elbow dislocation, Hearing impairment, Atresia of the externa... |
ORPHA:2554 |
Weill-Marchesani Syndrome 1 |
|
Broad phalanges of the hand, Spinal canal stenosis, Broad ribs, Lumbar hyperlordosis, Brachydacty... |
OMIM:277600 |
Lethal Congenital Contracture Syndrome 5 |
|
Thin ribs |
OMIM:615368 |
Fetal Iodine Deficiency Disorder |
|
Congenital goiter, Congenital hypothyroidism, Hearing impairment |
OMIM:228355 |
Klippel-Trénaunay Syndrome |
|
Abnormality of the menstrual cycle, Gastrointestinal hemorrhage, Abnormality of the pulmonary artery |
ORPHA:90308 |
Cryptococcosis |
|
Pneumonia, Vomiting, Respiratory distress, Nodular pattern on pulmonary HRCT, Pleural effusion, P... |
ORPHA:1546 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Increased mean corpuscular volume, Lymphopenia, Leukopenia, Interstitial pneumon... |
OMIM:127550 |
Immunodeficiency 23 |
|
Allergic rhinitis, Eczematoid dermatitis, Chronic mucocutaneous candidiasis, Lymphopenia, Abscess... |
OMIM:615816 |
Platyspondylic Dysplasia, Torrance Type |
|
Platyspondyly, Low-set ears, Disproportionate short-limb short stature, Abdominal distention, Gen... |
ORPHA:85166 |
Carey-Fineman-Ziter Syndrome |
|
Growth delay, Downslanted palpebral fissures, Glandular hypospadias, Laryngeal stenosis, Epicanth... |
ORPHA:1358 |
Hirschsprung Disease, Susceptibility To, 1 |
|
Vomiting, Abdominal distention, Enterocolitis, Constipation |
OMIM:142623 |
Shigellosis |
|
Pneumonia, Microangiopathic hemolytic anemia, Ulcerative colitis, Leukocytosis, Abscess, Peritoni... |
ORPHA:810 |
Succinic Acidemia |
|
Respiratory distress |
OMIM:600335 |
Wiskott-Aldrich Syndrome |
|
Hematochezia, Inflammation of the large intestine, Blepharitis, Bruising susceptibility, Spontane... |
ORPHA:906 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Irregular menstruation, Elevated circulating parathyroid hormone level, Elevated circulating thyr... |
OMIM:101800 |
Congenital Syphilis |
|
Pneumonia, Keratitis, Extramedullary hematopoiesis, Hepatosplenomegaly, Synovitis, Anemia, Pancre... |
ORPHA:499009 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Narrow chest, Short tibia, Unicoronal synostosis, Preaxial polydactyly, Hypoplastic pelvis, Bell-... |
OMIM:616300 |
Listeriosis |
|
Pneumonia, Abnormal cellular immune system morphology, Arteritis, Brain abscess, Liver abscess, O... |
ORPHA:533 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Pneumonia, Vomiting, Respiratory distress, Episodic tachypnea, Tachypnea, Jaundice, Feeding diffi... |
ORPHA:26793 |
Primary Peritoneal Carcinoma |
|
Nausea and vomiting, Peritonitis, Constipation, Abdominal distention, Abdominal pain |
ORPHA:168829 |
Coccidioidomycosis |
|
Pneumonia, Hearing impairment, Abnormality of the male genitalia, Respiratory distress, Exudative... |
ORPHA:228123 |
Pitt-Hopkins Syndrome |
|
Abnormal helix morphology, Gastroesophageal reflux, Growth delay, Abnormal pattern of respiration... |
ORPHA:2896 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Aplasia/Hypoplasia of the earlobes, Bifid scrotum, Downslanted palpebral fissures, Respiratory di... |
ORPHA:1555 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Respiratory distress, Dysphagia |
ORPHA:240103 |
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Respiratory distress, Gastrostomy tube feeding in infancy, Sensorineural hearing impairment, Scol... |
ORPHA:544503 |
Schinzel-Giedion Syndrome |
|
Low-set ears, Abnormal helix morphology, Streak ovary, Radioulnar synostosis, Infantile sensorine... |
ORPHA:798 |
Thyroid Cancer, Nonmedullary, 1 |
|
Non-medullary thyroid carcinoma, Goiter, Papillary thyroid carcinoma |
OMIM:188550 |
Spondyloenchondrodysplasia |
|
Pneumonia, Granuloma, Hepatitis, Pancytopenia, Skin rash, Autoimmune hemolytic anemia, Arthritis,... |
ORPHA:1855 |
Hsd10 Disease, Infantile Type |
|
Cyanosis, Gastrointestinal dysmotility, Dysphagia, Hearing impairment |
ORPHA:391428 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Recurrent aspiration pneumonia |
ORPHA:79243 |
Absence Of The Pulmonary Artery |
|
Recurrent pneumonia, Cyanosis, Pulmonary edema, Hypocapnia, Orthopnea, Abnormal pulmonary thoraci... |
ORPHA:980 |
Trisomy 1Q |
|
Toe syndactyly, Short thorax, Camptodactyly of finger, Preaxial hand polydactyly, Arachnodactyly,... |
ORPHA:261344 |
8Q24.3 Microdeletion Syndrome |
|
Ectopic posterior pituitary, Infancy onset short-trunk short stature, Epicanthus, Feeding difficu... |
ORPHA:508488 |
Bloom Syndrome |
|
Pneumonia, Bronchitis, Acute lymphoblastic leukemia, Respiratory tract infection, Otitis media, S... |
ORPHA:125 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Low-set ears, Coronal craniosynostosis, Pulmonary hypoplasia, Cholelithiasis, Pancreatic hypoplas... |
ORPHA:83617 |
Monosomy 9Q22.3 |
|
Abnormality of the vertebral column, Abnormal rib morphology, Polydactyly, Short neck, Metopic sy... |
ORPHA:77301 |
Premature Ovarian Failure 13 |
|
Female infertility, Amenorrhea, Oligomenorrhea, Elevated circulating follicle stimulating hormone... |
OMIM:617442 |
Craniofaciofrontodigital Syndrome |
|
Lower eyelid edema, Gastrointestinal hemorrhage, Gastroesophageal reflux, Premature skin wrinklin... |
ORPHA:363705 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Aspiration pneumonia |
OMIM:619167 |
Viss Syndrome |
|
Atopic dermatitis, Pulmonary artery aneurysm, Eczematoid dermatitis, Emphysema, Chronic gastritis... |
OMIM:619472 |
Breath-Holding Spells |
|
Cyanosis |
OMIM:607578 |
Immunodeficiency 31C |
|
Eczematoid dermatitis, Chronic mucocutaneous candidiasis, Osteomyelitis, Lymphopenia, Autoimmune ... |
OMIM:614162 |
Neurofibromatosis Type 1 |
|
Precocious puberty, Kyphosis, Hearing impairment, Pheochromocytoma, Genu valgum, Cryptorchidism, ... |
ORPHA:636 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Low-set ears, Downslanted palpebral fissures, Respiratory distress, Hydrometrocolpos, Aplasia of ... |
OMIM:617088 |
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... |
OMIM:600791 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Low-set ears, Hepatic failure, Abdominal distention, Abnormality of the uterus, Downslanted palpe... |
ORPHA:1655 |
Bangstad Syndrome |
|
Severe short stature, Primary gonadal insufficiency, Insulin-resistant diabetes mellitus, Goiter |
OMIM:210740 |
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Nodular goiter, Papillary thyroid carcinoma, Goiter |
ORPHA:97290 |
Lipodystrophy, Familial Partial, Type 2 |
|
Insulin-resistant diabetes mellitus, Labial pseudohypertrophy, Hyperinsulinemia, Type II diabetes... |
OMIM:151660 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Posterior rib fusion, Butterfly vertebrae, Neonatal death |
OMIM:265380 |
Myasthenia Gravis |
|
Rheumatoid arthritis, Hearing impairment, Primary adrenal insufficiency, Hashimoto thyroiditis, P... |
ORPHA:589 |
Combined Oxidative Phosphorylation Deficiency 25 |
|
Aspiration pneumonia |
OMIM:616430 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Pulmonary artery stenosis, Bilateral lung agenesis, Congenital pulmonary airway malformation, Pul... |
OMIM:611812 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Bell-shaped thorax, Horizontal ribs |
OMIM:614857 |
Multiple Endocrine Neoplasia Type 2 |
|
Thyroid C cell hyperplasia, Elevated circulating calcitonin concentration, Elevated circulating p... |
ORPHA:653 |
Cerebrocostomandibular Syndrome |
|
Posterior rib gap, Congenital hip dislocation, Thoracic hypoplasia, Rib gap, Elbow flexion contra... |
OMIM:117650 |
Familial Adenomatous Polyposis 4 |
|
Renal cyst, Thyroid adenoma, Ovarian cyst, Uterine leiomyoma |
OMIM:617100 |
Kaposiform Lymphangiomatosis |
|
Abnormal form of the vertebral bodies, Bruising susceptibility, Pleural effusion, Metrorrhagia, E... |
ORPHA:464329 |
Proteus Syndrome |
|
Low-set ears, Pulmonary cyst, Pulmonary bulla, Hip dislocation, Macrotia, Vascular skin abnormali... |
ORPHA:744 |
Chops Syndrome |
|
Gastroesophageal reflux, Hearing impairment, Tracheomalacia, Aspiration pneumonia, Gastroparesis,... |
OMIM:616368 |
Severe Congenital Nemaline Myopathy |
|
Thin ribs, Abnormal thorax morphology, Adducted thumb |
ORPHA:171430 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Low-set ears, Hepatic failure, Abdominal distention, Downslanted palpebral fissures, Pancreatic l... |
OMIM:235255 |
Atypical Werner Syndrome |
|
Subcutaneous calcification, Insulin-resistant diabetes mellitus, Premature graying of hair, Hyper... |
ORPHA:79474 |
Cap Polyposis |
|
Atrophic gastritis, Hematochezia, Diarrhea, Constipation, Abdominal distention, Abdominal pain |
ORPHA:160148 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory distress, Tachypnea, Vomiting, Death in infancy |
OMIM:614299 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Erythema, Gastrointestinal hemorrhage, Diarrhea, Growth delay, Recurrent aphthous stomatitis, Int... |
ORPHA:343 |
Infantile Neuroaxonal Dystrophy |
|
Aspiration pneumonia |
ORPHA:35069 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Hypospadias, Atresia of the external auditory canal, Bifid scrotum, Downslanted palpebral fissure... |
OMIM:123790 |
Immunodeficiency 82 With Systemic Inflammation |
|
Pneumonia, Reduced natural killer cell count, Bronchitis, Pustular rash, Hepatitis, Recurrent oti... |
OMIM:619381 |
Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors |
|
Euthyroid multinodular goiter, Papillary thyroid carcinoma |
OMIM:138800 |
Shwachman-Diamond Syndrome |
|
Pneumonia, Normocytic anemia, Aplastic anemia, Eczematoid dermatitis, Increased mean corpuscular ... |
ORPHA:811 |
Nasolacrimal Duct Cyst |
|
Intercostal retractions, Paroxysmal dyspnea, Episodic respiratory distress, Chronic irritative co... |
ORPHA:141083 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Respiratory distress, Nausea and vomiting, Anorexia, Abdominal pain, Feeding difficulties |
ORPHA:79312 |
Lethal Recessive Chondrodysplasia |
|
Respiratory distress, Flared elbow metaphyses |
ORPHA:1423 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Thoracic hypoplasia, Overlapping toe, Wrist flexion contracture, Long toe, Flexion contracture of... |
ORPHA:254528 |
Cystic Fibrosis |
|
Recurrent pneumonia, Nasal polyposis, Hepatosplenomegaly, Chronic sinusitis, Pancreatitis, Recurr... |
OMIM:219700 |
Premature Aging Syndrome, Penttinen Type |
|
Thin ribs, Short distal phalanx of finger, Slender long bone, Delayed cranial suture closure, Cer... |
OMIM:601812 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Pneumonia, Normocytic anemia, Skin rash, Normochromic anemia |
ORPHA:247691 |
3-Methylglutaconic Aciduria, Type Viib |
|
Recurrent pneumonia, Rhizomelia, Respiratory distress, Intrauterine growth retardation, Tube feed... |
OMIM:616271 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Dyspnea, Renal cyst, Abdominal distention |
OMIM:174050 |
Visceral Myopathy, Familial, With External Ophthalmoplegia |
|
Malnutrition, Gastroparesis, Ptosis, Abdominal distention, Abdominal pain |
OMIM:277320 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Recurrent upper respiratory tract infections, Recurrent pneumonia, Recurrent otitis media, Abnorm... |
ORPHA:293978 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Low-set ears, Bilateral conductive hearing impairment, Atresia of the external auditory canal, Ep... |
OMIM:620186 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Hashimoto thyroiditis, Hypothyroidism, Nausea and vomiting, Goiter |
ORPHA:83601 |
Familial Dysautonomia |
|
Gastroesophageal reflux, Growth delay, Abnormal pleura morphology, Feeding difficulties in infanc... |
ORPHA:1764 |
Sheehan Syndrome |
|
Central adrenal insufficiency, Sensorineural hearing impairment, Decreased serum estradiol, Breas... |
ORPHA:91355 |
Episodic Ataxia Type 1 |
|
Respiratory distress, Nausea, Scoliosis, Kyphoscoliosis |
ORPHA:37612 |
Branchiootorenal Syndrome 1 |
|
Congenital hip dislocation, Dilatated internal auditory canal, Cupped ear, Conductive hearing imp... |
OMIM:113650 |
Premature Ovarian Failure 9 |
|
Elevated circulating luteinizing hormone level, Amenorrhea, Hypoplasia of the ovary, Elevated cir... |
OMIM:615724 |
Glutaric Aciduria Iii |
|
Diarrhea, Vomiting, Hyperthyroidism, Goiter |
OMIM:231690 |
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Colitis, Recurrent pneumonia, Bronchiectasis |
OMIM:301220 |
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Multicystic kidney dysplasia, Multinodular goiter |
ORPHA:2091 |
Fanconi Anemia, Complementation Group F |
|
Pneumonia, Anemia, Leukopenia, Thrombocytopenia |
OMIM:603467 |
Inflammatory Pseudotumor Of The Liver |
|
Abdominal pain, Vomiting, Nausea, Abdominal distention |
ORPHA:90003 |
Alfadhel Syndrome |
|
Low-set ears, Highly arched eyebrow, Nasal flaring, Short stature |
OMIM:620655 |
Blepharochalasis And Double Lip |
|
Blepharochalasis, Goiter |
OMIM:109900 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Short stature, Delayed puberty, Abdominal distention, Growth delay |
ORPHA:369 |
Kagami-Ogata Syndrome |
|
Thoracic hypoplasia, Bell-shaped thorax, Kyphoscoliosis, Short neck, Coat hanger sign of ribs, Co... |
ORPHA:254519 |
Mucopolysaccharidosis, Type Iiid |
|
Epiphyseal dysplasia, Elbow flexion contracture, Thoracic scoliosis, Pilonidal sinus, Hypoplastic... |
OMIM:252940 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Asplenia, Pulmonary hypoplasia, Abnormal lung lobation |
OMIM:615415 |
Congenital Short Bowel Syndrome |
|
Decreased intestinal transit time, Vomiting, Abnormal peristalsis, Abdominal distention, Steatorr... |
OMIM:615237 |
Cowden Syndrome |
|
Abnormal penis morphology, Follicular thyroid carcinoma, Hearing impairment, Abnormality of the u... |
ORPHA:201 |
Combined Oxidative Phosphorylation Deficiency 53 |
|
Death in childhood, Death in infancy, Arthritis, Abdominal distention, Septic arthritis, Short st... |
OMIM:619423 |
Thyroid Ectopia |
|
Growth delay, Elevated circulating thyroid-stimulating hormone concentration, Abnormality of the ... |
ORPHA:95712 |
Hydatidiform Mole |
|
Menometrorrhagia, Nausea and vomiting, Enlarged uterus, Hyperthyroidism, Miscarriage |
ORPHA:99927 |
X-Linked Acrogigantism |
|
Pituitary adenoma, Increased circulating prolactin concentration, Fasting hyperinsulinemia, Hypop... |
ORPHA:300373 |
Leukocyte Adhesion Deficiency |
|
Lymphocytic interstitial pneumonia, Impaired neutrophil chemotaxis, Acute myeloid leukemia, Glome... |
ORPHA:2968 |
Mirage Syndrome |
|
Aspiration pneumonia, Lymphopenia, Leukopenia, Thrombocytopenia, Anemia, Hypoplastic spleen |
OMIM:617053 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Respiratory distress, Nausea and vomiting, Growth delay |
ORPHA:289916 |
Hutchinson-Gilford Progeria Syndrome |
|
Prominent ear helix, Absent eyebrow, Female hypogonadism, Hip dislocation, High-frequency sensori... |
ORPHA:740 |
Celiac Disease, Susceptibility To, 1 |
|
Type I diabetes mellitus, Diarrhea, Vomiting, Postnatal growth retardation, Recurrent aphthous st... |
OMIM:212750 |
Cryofibrinogenemia, Familial Primary |
|
Acrocyanosis |
OMIM:123540 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Hepatic failure, Vomiting, Growth delay, Apnea, Upslanted palpebral fissure, Cyanosis, Sensorineu... |
OMIM:252010 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Gastroesophageal reflux, Vomiting, Growth delay, Respiratory distress, Apnea, Sensorineural heari... |
ORPHA:17 |
Thyrocerebrorenal Syndrome |
|
Euthyroid goiter, Sensorineural hearing impairment |
ORPHA:3327 |
Osteogenesis Imperfecta |
|
Thin ribs, Abnormal tibia morphology, Enlarged vertebral pedicles, Genu valgum, Bowing of the lon... |
ORPHA:666 |
Cocaine Intoxication |
|
Diffuse alveolar hemorrhage, Vomiting, Respiratory distress, Gastrointestinal infarctions, Pulmon... |
ORPHA:90068 |
Craniotubular Dysplasia, Ikegawa Type |
|
Platyspondyly, Broad femoral neck, Broad ribs, Increased intervertebral space, Diaphyseal dysplas... |
OMIM:619727 |
Glucose/Galactose Malabsorption |
|
Hyperactive bowel sounds, Malabsorption, Chronic diarrhea, Abdominal distention |
OMIM:606824 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Precocious puberty, Gastroesophageal reflux, Encopresis, Cryptorchidism, Constipation, Scoliosis,... |
OMIM:616682 |
Encephalopathy, Ethylmalonic |
|
Petechiae, Death in infancy, Chronic diarrhea, Acrocyanosis, Feeding difficulties |
OMIM:602473 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Broad clavicles, Flared metaphysis, Delayed cranial suture closure, Hyperextensibility of the fin... |
OMIM:151050 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Respiratory distress, Pneumothorax, Glandular hypospadias, Pulmonary hypoplasia |
OMIM:620306 |
Cystic Fibrosis |
|
Nasal polyposis, Pneumothorax, Sinusitis, Recurrent lower respiratory tract infections, Recurrent... |
ORPHA:586 |
Carnitine Deficiency, Systemic Primary |
|
Respiratory distress, Vomiting, Diarrhea |
OMIM:212140 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28 |
|
Respiratory distress, Dysphagia |
OMIM:620375 |
Holocarboxylase Synthetase Deficiency |
|
Respiratory distress, Nausea and vomiting, Keratoconjunctivitis, Tachypnea, Anorexia, Growth delay |
ORPHA:79242 |
Ulbright-Hodes Syndrome |
|
Low-set ears, Abnormal penis morphology, Clitoral hypertrophy, Respiratory distress, Postnatal gr... |
ORPHA:3404 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Goiter, Increased circulating T4 concentration, Increased circulating free T4 concentration, Hype... |
OMIM:613239 |
Thyroid Hormone Plasma Membrane Transport Defect |
|
Euthyroid hyperthyroxinemia, Goiter |
OMIM:188560 |
Deiodinase, iodothyronine, type I |
|
Euthyroid hyperthyroxinemia, Goiter |
OMIM:147892 |
Lissencephaly Due To Lis1 Mutation |
|
Aspiration pneumonia |
ORPHA:95232 |
Dravet Syndrome |
|
Limited knee extension, Cyanotic episode |
ORPHA:33069 |
Thyrocerebroretinal Syndrome |
|
Sensorineural hearing impairment, Goiter |
OMIM:274240 |
Osteoglophonic Dysplasia |
|
Platyspondyly, Low-set ears, Rhizomelia, Severe short stature, Growth delay, Camptodactyly of fin... |
OMIM:166250 |
Ovarian Dysgenesis 3 |
|
Elevated circulating luteinizing hormone level, Female infertility, Aplasia of the ovary, Delayed... |
OMIM:614324 |
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Recurrent aspiration pneumonia, Recurrent pneumonia |
OMIM:300472 |
Craniorachischisis |
|
Bifid sternum |
ORPHA:63260 |
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema |
|
Respiratory distress, Palpebral edema, Erythema, Angioedema |
ORPHA:100057 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Respiratory distress, Apnea, Pleural effusion, Cyanosis, Pulmonary edema, Feeding difficulties |
OMIM:261740 |
Infection-Related Hemolytic Uremic Syndrome |
|
Pneumonia, Brain abscess, Hemolytic anemia, Leukocytosis, Respiratory tract infection, Pancreatit... |
ORPHA:544482 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Hypoplastic scapulae, Abnormality of the costochondral junction, Short tibia, Thumb contracture, ... |
ORPHA:96334 |
Complete Atrioventricular Septal Defect |
|
Recurrent pneumonia, Intercostal retractions, Cyanosis, Tachypnea, Feeding difficulties |
ORPHA:1329 |
Nestor-Guillermo Progeria Syndrome |
|
Thin ribs, Limited elbow movement, Wide cranial sutures, Delayed closure of the anterior fontanel... |
OMIM:614008 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Cyanosis, Feeding difficulties in infancy, Paroxysmal dyspnea |
ORPHA:444013 |
Multiple Endocrine Neoplasia, Type Iib |
|
Elevated circulating calcitonin concentration, Diarrhea, Pheochromocytoma, Thick eyebrow, Medulla... |
OMIM:162300 |
Autosomal Dominant Centronuclear Myopathy |
|
Thin ribs |
ORPHA:169189 |
Non-Acquired Panhypopituitarism |
|
Ectopic posterior pituitary, Growth delay, Ectopic anterior pituitary gland, Decreased response t... |
ORPHA:90695 |
Congenital Tricuspid Valve Dysplasia |
|
Intrauterine growth retardation, Cyanosis, Tachypnea, Hypoxemia, Anomalous pulmonary venous return |
ORPHA:555874 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Respiratory distress, Telecanthus, Upslanted palpebral fissure, Epicanthus, Long palpebral fissur... |
ORPHA:438216 |
Lymphatic Malformation 7 |
|
Chylothorax, Respiratory distress, Pleural effusion, Pulmonary edema, Abdominal distention |
OMIM:617300 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 23 |
|
Gastroesophageal reflux, Intrauterine growth retardation, Knee contracture, Death in infancy, Abd... |
OMIM:620275 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Vomiting, Intestinal pseudo-obstruction, Downslanted palpebral fissures, Feeding difficulties in ... |
OMIM:300048 |
Tuberous Sclerosis Complex |
|
Pituitary adenoma, Generalized abnormality of skin, Respiratory distress, Pheochromocytoma, Retin... |
ORPHA:805 |
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies |
|
Low-set ears, Anteverted ears, Short palpebral fissure, Sparse eyebrow, Tracheomalacia, Downslant... |
OMIM:620654 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Growth delay, Elevated circulating thyroid-stimulating hormone concentration, Goiter, Decreased c... |
OMIM:218700 |
Hennekam-Beemer Syndrome |
|
Pneumonia, Mastocytosis |
ORPHA:2135 |
Gaucher Disease, Type Ii |
|
Bronchiolitis, Splenomegaly, Thrombocytopenia, Anemia, Recurrent aspiration pneumonia |
OMIM:230900 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Telangiectasia of the skin, Ovarian serous cystadenoma, Hydrocele testis, Scoliosis, Microtia |
ORPHA:276280 |
Aicardi-Goutieres Syndrome 1 |
|
Erythema, Petechiae, Feeding difficulties in infancy, Hypothyroidism, Short stature, Prolonged ne... |
OMIM:225750 |
Wolman Disease |
|
Hepatic failure, Malnutrition, Nausea and vomiting, Abdominal distention, Steatorrhea, Growth delay |
ORPHA:75233 |
Vater/Vacterl Association |
|
Abnormal vertebral morphology, Short thumb, Abnormal rib morphology, Preaxial polydactyly, Abnorm... |
OMIM:192350 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Respiratory distress, Death in infancy, Feeding difficulties, Irregular respiration |
OMIM:604377 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Pneumonia, Symblepharon, Trichiasis, Abnormal penis morphology, Vaginal dryness, Diarrhea, Xerost... |
ORPHA:95455 |
Atrial Septal Defect, Ostium Primum Type |
|
Pulmonary artery dilatation, Cyanosis, Tachypnea, Exertional dyspnea, Dyspnea, Recurrent respirat... |
ORPHA:99106 |
Pediatric Systemic Lupus Erythematosus |
|
Vomiting, Diarrhea, Pleural effusion, Arthritis, Abdominal distention, Dyspnea, Abdominal pain |
ORPHA:93552 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Short distal phalanx of finger, Increased density of long bones, Short 1st metacarpal, Wide dista... |
OMIM:269150 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Low-set ears, Cyanosis, Death in infancy, Renal cyst, Partial anomalous pulmonary venous return |
OMIM:617478 |
Secondary Short Bowel Syndrome |
|
Diarrhea, Vomiting, Malnutrition, Malabsorption, Small intestinal dysmotility, Enterocolitis, Con... |
ORPHA:95427 |
Microlissencephaly-Micromelia Syndrome |
|
Respiratory distress, Palpebral edema, Abnormal circulating calcium-phosphate regulating hormone ... |
ORPHA:50810 |
Hypoglossia With Situs Inversus |
|
Respiratory distress, Low-set ears, Feeding difficulties in infancy, Malnutrition |
OMIM:612776 |
Goiter, Multinodular 2 |
|
Euthyroid multinodular goiter |
OMIM:300273 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Congenital hip dislocation, Erythema, Hearing impairment, Stillbirth, Adrenal hypoplasia, Vertebr... |
OMIM:308050 |
Thyroid Hypoplasia |
|
Thyroid hypoplasia, Hypothyroidism, Constipation, Abdominal distention, Short stature, Jaundice, ... |
ORPHA:95720 |
Goodpasture Syndrome |
|
Reticular pattern on pulmonary HRCT, Ground-glass opacification, Pulmonary hemorrhage, Nodular pa... |
OMIM:233450 |
Shwachman-Diamond Syndrome 2 |
|
Low-set ears, Diarrhea, Exocrine pancreatic insufficiency, Subglottic stenosis, Death in childhoo... |
OMIM:617941 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Tracheobronchial leiomyomatosis, Recurrent respiratory infections, Keratitis, Aspiration pneumonia |
ORPHA:1018 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Exertional dyspnea, Cyanosis, Growth delay |
OMIM:250800 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4 |
|
Recurrent respiratory infections, Hypoperistalsis, Abdominal distention |
OMIM:619365 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Gastroesophageal reflux, Hearing impairment, Goiter, Gastroparesis, Hypothyroidism, Exertional dy... |
ORPHA:254892 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Respiratory distress, Lumbar hyperlordosis, Long eyelashes, Telecanthus, Recurrent gastroenteriti... |
ORPHA:505248 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Diarrhea, Vomiting, Respiratory distress, Episodic tachypnea, Intermittent hyperventilation, Apne... |
ORPHA:348 |
Van Maldergem Syndrome 2 |
|
Hearing impairment, Atresia of the external auditory canal, Cryptorchidism, Sensorineural hearing... |
OMIM:615546 |
Hermansky-Pudlak Syndrome |
|
Menometrorrhagia, Gastrointestinal hemorrhage, Bruising susceptibility, Long eyelashes, Malabsorp... |
ORPHA:79430 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Pneumonia |
ORPHA:90790 |
Congenital Enterovirus Infection |
|
Respiratory distress, Hepatic failure, Pleural effusion |
ORPHA:292 |
Qazi-Markouizos Syndrome |
|
Abdominal distention, Cryptorchidism, Delayed ossification of carpal bones, Chronic constipation |
ORPHA:3010 |
Weill-Marchesani Syndrome 2 |
|
Broad phalanges of the hand, Short finger, Elbow flexion contracture, Broad ribs, Spinal canal st... |
OMIM:608328 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Elevated circulating thyroid-stimulating hormone concentration, Decreased circulating T4 concentr... |
ORPHA:90673 |
Aicardi-Goutieres Syndrome 7 |
|
Pneumonia, Atrophic gastritis, Atopic dermatitis, Hepatitis, Pancytopenia, Chilblains, Skin rash,... |
OMIM:615846 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Abnormal penis morphology, Erythema, Clitoral hypertrophy, Severe short stature, Growth delay, He... |
ORPHA:2556 |
Leopard Syndrome 1 |
|
Low-set ears, Hypospadias, Delayed menarche, Cryptorchidism, Aplasia of the ovary, Limited elbow ... |
OMIM:151100 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Platyspondyly, Rhizomelia, Disproportionate short-limb short stature, Congenital hypothyroidism, ... |
OMIM:271510 |
Primary Sjögren Syndrome |
|
Arteritis, Lymphopenia, Chronic hepatitis, Decreased proportion of CD4-positive helper T cells, L... |
ORPHA:289390 |
Infantile Krabbe Disease |
|
Delayed brainstem auditory evoked response conduction time, Gastroesophageal reflux, Vomiting, He... |
ORPHA:206436 |
Meier-Gorlin Syndrome 2 |
|
Clitoral hypertrophy, Gastroesophageal reflux, Tracheomalacia, Breast hypoplasia, Intrauterine gr... |
OMIM:613800 |
Treacher-Collins Syndrome |
|
Blepharospasm, Small scrotum, Conductive hearing impairment, Rectovaginal fistula, Downslanted pa... |
ORPHA:861 |
Laryngeal Abductor Paralysis |
|
Dysphagia, Cyanosis |
OMIM:150260 |
Truncus Arteriosus |
|
Pulmonary artery hypoplasia, Abnormal lung lobation, Intrauterine growth retardation, Cyanosis, A... |
ORPHA:3384 |
Postinfectious Vasculitis |
|
Pneumonia, Palpable purpura, Anorexia, Cutis marmorata, Orchitis, Arthritis, Vasculitis in the sk... |
ORPHA:48435 |
Unilateral Polymicrogyria |
|
Pseudobulbar paralysis, Nasogastric tube feeding, Apnea, Cyanosis, Pulmonary arteriovenous malfor... |
ORPHA:268943 |
Apert Syndrome |
|
Lambdoidal craniosynostosis, Coronal craniosynostosis, Anomalous tracheal cartilage, Synostosis o... |
OMIM:101200 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Ankle flexion contracture, Diarrhea, Nausea, Constipation, Episodic vomiting, Abdominal distentio... |
ORPHA:100924 |
Oculogastrointestinal Muscular Dystrophy |
|
Intestinal pseudo-obstruction, Gastroparesis, Malabsorption, Ptosis, Abdominal distention |
ORPHA:1876 |
Neuroblastoma |
|
Elevated circulating catecholamine level, Respiratory distress, Horner syndrome, Abdominal disten... |
ORPHA:635 |
Pseudo-Torch Syndrome 2 |
|
Thin ribs |
OMIM:617397 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Small cell lung carcinoma, Diarrhea, Poor wound healing, Increased circulating cortisol level, In... |
ORPHA:99889 |
Waardenburg Syndrome, Type 1 |
|
Supernumerary ribs, Sprengel anomaly, Supernumerary vertebrae |
OMIM:193500 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Irregular menstruation, Erythema, Recurrent upper respiratory tract infections, Elevated circulat... |
OMIM:256040 |
Obesity-Hypoventilation Syndrome |
|
Cyanosis, Hypoventilation |
OMIM:257500 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory distress, Feeding difficulties in infancy, Respiratory tract infection, Hearing impai... |
ORPHA:308552 |
Alternating Hemiplegia Of Childhood |
|
Diarrhea, Vomiting, Abdominal distention, Oral-pharyngeal dysphagia, Respiratory distress, Thin e... |
ORPHA:2131 |
Gm1 Gangliosidosis |
|
Aspiration pneumonia, Hepatosplenomegaly, Splenomegaly, Infectious encephalitis, Recurrent respir... |
ORPHA:354 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Respiratory distress, Narrow internal auditory canal, Low-set, posteriorly rotated ears, Synotia,... |
ORPHA:990 |
Dextrocardia |
|
Congenital hip dislocation, Abnormal rib morphology |
ORPHA:1666 |
Ramos-Arroyo Syndrome |
|
Severe short stature, Xerostomia, Respiratory distress, Upslanted palpebral fissure, Chronic cons... |
ORPHA:1051 |
Neuromuscular Oculoauditory Syndrome |
|
Respiratory distress, Knee flexion contracture, Sensorineural hearing impairment, Simple ear, Epi... |
OMIM:618733 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatic failure, Apnea, Cyanosis |
OMIM:261680 |
Amoebiasis Due To Free-Living Amoebae |
|
Pneumonia, Increased red blood cell count, Granuloma, Respiratory tract infection, Infectious enc... |
ORPHA:68 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Respiratory distress, Pulmonary edema, Dyspnea |
OMIM:115197 |
Cerebrocostomandibular Syndrome |
|
Posterior rib gap, Clinodactyly of the 5th finger, Bell-shaped thorax, Kyphosis |
ORPHA:1393 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Low-set ears, Congenital hip dislocation, Short palpebral fissure, Hearing impairment, Downslante... |
ORPHA:480880 |
Atrial Septal Defect, Coronary Sinus Type |
|
Pneumonia, Cyanosis, Exertional dyspnea, Dyspnea, Anomalous pulmonary venous return |
ORPHA:99104 |
Wilson Disease |
|
Bruising susceptibility, Abnormality of the menstrual cycle, Acute hepatic failure, Joint swellin... |
ORPHA:905 |
Chiari Malformation Type Ii |
|
Dysphagia, Cyanosis, Feeding difficulties |
OMIM:207950 |
Congenital Disorder Of Deglycosylation 1 |
|
Low-set ears, Oral-pharyngeal dysphagia, Respiratory distress, Ptosis, Impaired oropharyngeal swa... |
OMIM:615273 |
Peripheral Motor Neuropathy-Dysautonomia Syndrome |
|
Acrocyanosis, Achalasia |
ORPHA:2400 |
Spondyloepiphyseal Dysplasia Congenita |
|
Platyspondyly, Kyphosis, Hearing impairment, Respiratory distress, Lumbar hyperlordosis, Limited ... |
OMIM:183900 |
Buerger Disease |
|
Livedo reticularis, Acrocyanosis |
ORPHA:36258 |
Scimitar Syndrome |
|
Pulmonary artery hypoplasia, Bronchogenic cyst, Respiratory distress, Pneumothorax, Partial anoma... |
ORPHA:185 |
Tetanus |
|
Respiratory distress, Tachypnea, Abdominal pain, Dysphagia, Bowel incontinence |
ORPHA:3299 |
Hemorrhagic Fever-Renal Syndrome |
|
Pneumonia, Diarrhea, Vomiting, Respiratory distress, Pleural effusion, Petechiae, Ecchymosis, Pul... |
ORPHA:340 |
Osteopathia Striata With Cranial Sclerosis |
|
Thoracolumbar kyphosis, Joint contracture of the hand, Straight clavicles, Broad ribs, Fibular ap... |
OMIM:300373 |
Orofaciodigital Syndrome Type 14 |
|
Bilateral cryptorchidism, Low-set, posteriorly rotated ears, Telecanthus, Upslanted palpebral fis... |
ORPHA:434179 |
Familial Multinodular Goiter |
|
Sertoli cell neoplasm, Pleuropulmonary blastoma, Thyroid carcinoma, Multinodular goiter, Testicul... |
ORPHA:276399 |
Hypermobile Ehlers-Danlos Syndrome |
|
Elbow dislocation, Decreased fertility, Nausea and vomiting, Epicanthus, Hip dislocation, Menomet... |
ORPHA:285 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Cyanosis, Apnea, Hearing impairment |
OMIM:619580 |
Fucosidosis |
|
Hearing impairment, Vascular skin abnormality, Hypothyroidism, Anterior beaking of lumbar vertebr... |
ORPHA:349 |
Primary Dystonia, Dyt4 Type |
|
Respiratory distress, Dysphagia, Blepharospasm, Kyphoscoliosis |
ORPHA:98805 |
Constricting Bands, Congenital |
|
Abnormal rib cage morphology, Hand polydactyly, Scoliosis, Syndactyly |
OMIM:217100 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Genu valgum, Dysphagia, Cyanosis, Sensorineural hearing impairment |
ORPHA:488627 |
Hypothyroidism, Congenital, Nongoitrous, 5 |
|
Growth delay, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypothyr... |
OMIM:225250 |
Simpson-Golabi-Behmel Syndrome |
|
Congenital hip dislocation, Broad thumb, Toe syndactyly, Short toe, Finger syndactyly, Camptodact... |
ORPHA:373 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Low-set ears, Acetabular dysplasia, Aplasia of the epiglottis, Protruding ear, 4-5 metacarpal syn... |
OMIM:268305 |
Leprechaunism |
|
Low-set ears, Clitoral hypertrophy, Long penis, Central hypothyroidism, Abdominal distention, Ove... |
ORPHA:508 |
Sotos Syndrome |
|
Pulmonary bleb, Small cell lung carcinoma, Acute lymphoblastic leukemia, Chronic otitis media |
ORPHA:821 |
Doors Syndrome |
|
Low-set ears, Gastroesophageal reflux, Atresia of the external auditory canal, Aspiration pneumon... |
ORPHA:79500 |
Pfeiffer Syndrome |
|
Coronal craniosynostosis, Downslanted palpebral fissures, Humeroradial synostosis, Elbow ankylosi... |
OMIM:101600 |
Hypothyroidism, Congenital, Nongoitrous, 1 |
|
Hypothyroidism, Thyroid hypoplasia, Elevated circulating thyroid-stimulating hormone concentratio... |
OMIM:275200 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Pulmonary hemorrhage, Nasal mucosa telangiectasia, Telangiectasia, Gastrointestinal hemorrhage, H... |
OMIM:187300 |
Congenital Alveolar Capillary Dysplasia |
|
Abnormal vertebral morphology, Annular pancreas, Respiratory distress, Absent gallbladder, Trache... |
ORPHA:210122 |
Hallermann-Streiff Syndrome |
|
Thin ribs, Abnormal rib cage morphology, Decreased number of sternal ossification centers, Slende... |
OMIM:234100 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Thin ribs, Congenital hip dislocation, Progressive congenital scoliosis, Platyspondyly, Joint dis... |
OMIM:225400 |
Meckel Syndrome, Type 8 |
|
Low-set ears, Ambiguous genitalia, Polycystic kidney dysplasia, Abdominal distention |
OMIM:613885 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Recurrent upper respiratory tract infections, Inflammatory abnormality of the skin, Eczematoid de... |
ORPHA:391487 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Anomalous origin of right pulmonary artery from ascending aorta, Anomalous origin of left pulmona... |
ORPHA:99050 |
Heterotaxy, Visceral, 1, X-Linked |
|
Low-set ears, Congenital hip dislocation, Total anomalous pulmonary venous return, Block vertebra... |
OMIM:306955 |
Ethylmalonic Encephalopathy |
|
Diarrhea, Acrocyanosis, Petechiae |
ORPHA:51188 |
Ataxia-Telangiectasia |
|
Lymphopenia, Decreased proportion of CD4-positive helper T cells, Recurrent bronchitis, Abnormal ... |
OMIM:208900 |
N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress, Tachypnea, Vomiting, Anorexia |
OMIM:237310 |
Bickerstaff Brainstem Encephalitis |
|
Pneumonia, Respiratory tract infection |
ORPHA:79138 |
Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Growth delay, Increased circulating prolactin concentration, Decreased circulating T4 concentrati... |
ORPHA:99832 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Decreased liver function, Respiratory distress, Death in childhood, Sensorineural hearing impairm... |
OMIM:220110 |
Monosomy 9P |
|
Abnormality of the vertebral column, Abnormality of the tarsal bones, Short neck, Abnormal rib mo... |
ORPHA:261112 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Respiratory distress, Vomiting, Diarrhea, Feeding difficulties |
OMIM:251000 |
Proximal Spinal Muscular Atrophy |
|
Recurrent infections due to aspiration, Recurrent aspiration pneumonia |
ORPHA:70 |
Dermatomyositis |
|
Erythema, Chondrocalcinosis, Shawl sign, V-sign, Acrocyanosis, Lung adenocarcinoma, Diffuse retic... |
ORPHA:221 |
Atrial Septal Defect, Ostium Secundum Type |
|
Pneumonia, Cyanosis, Exertional dyspnea, Orthopnea, Dyspnea |
ORPHA:99103 |
Coffin-Lowry Syndrome |
|
Pectus carinatum, Bifid sternum, Kyphosis, Tapered finger, Lumbar kyphosis, Drumstick terminal ph... |
OMIM:303600 |
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Platyspondyly, Enlargement of the ankles, Recurrent pneumonia, Poor suck, Abnormal joint morpholo... |
ORPHA:99646 |
Congenital Pulmonary Valvar Stenosis |
|
Laryngeal stenosis |
ORPHA:3189 |
Igg4-Related Kidney Disease |
|
Inflammatory abnormality of the skin, Lymphadenitis, Arteritis, Urinary bladder inflammation, Int... |
ORPHA:449395 |
Inhalational Anthrax |
|
Respiratory distress, Abnormal sweat gland morphology, Vomiting, Dyspnea |
ORPHA:247257 |
Early Infantile Epileptic Encephalopathy |
|
Precocious puberty, Micropenis |
ORPHA:1934 |
Cholera |
|
Aspiration pneumonia |
ORPHA:173 |
Kindler Epidermolysis Bullosa |
|
Erythema, Inflammation of the large intestine, Camptodactyly of finger, Esophagitis, Laryngeal st... |
ORPHA:2908 |
Myasthenic Syndrome, Congenital, 21, Presynaptic |
|
Apnea, Cyanosis, Knee flexion contracture, Ptosis, Meconium ileus, Feeding difficulties |
OMIM:617239 |
Gitelman Syndrome |
|
Type I diabetes mellitus, Chondrocalcinosis, Graves disease, Diarrhea, Respiratory distress, Type... |
ORPHA:358 |
Nthl1-Related Attenuated Familial Adenomatous Polyposis |
|
Pancreatic adenocarcinoma, Endometrial carcinoma, Ovarian cyst |
ORPHA:454840 |
Orofaciodigital Syndrome Xiv |
|
Low-set ears, Telecanthus, Upslanted palpebral fissure, Cryptorchidism, Aplasia of the epiglottis... |
OMIM:615948 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Respiratory distress, Hypospadias, Growth delay |
OMIM:619272 |
Acrofacial Dysostosis 1, Nager Type |
|
Low-set ears, Sparse lower eyelashes, Conductive hearing impairment, Atresia of the external audi... |
OMIM:154400 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Activating thyroid-stimulating hormone receptor defect, Diarrhea, Thyroid hyperplasia, Goiter, Hy... |
ORPHA:424 |
Multiple Mitochondrial Dysfunctions Syndrome 7 |
|
Decreased liver function, Apnea, Cyanosis, Ankle clonus, Feeding difficulties, Poor suck |
OMIM:620423 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Low-set ears, Subglottic stenosis, Short stature, Partial anomalous pulmonary venous return, Post... |
OMIM:619657 |
Alpha-Mannosidosis, Infantile Form |
|
Platyspondyly, Pectus carinatum, Talipes valgus, Genu valgum, Short neck, Pectus excavatum, Bilat... |
ORPHA:309282 |
Malignant Peritoneal Mesothelioma |
|
Abdominal pain, Peritonitis, Ileus, Abdominal distention |
ORPHA:168811 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Hepatic failure, Diarrhea, Vomiting, Growth delay, Respiratory distress, Acute hepatic failure, R... |
OMIM:256810 |
Double Outlet Left Ventricle |
|
Cyanosis, Pulmonary artery stenosis, Tachypnea, Cryptorchidism |
ORPHA:3427 |
Congenital Laryngeal Web |
|
Respiratory distress, Short stature |
ORPHA:2374 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Hepatic failure, Cyanosis, Sudden episodic apnea |
ORPHA:159 |
Pmm2-Cdg |
|
Platyspondyly, Vomiting, Elevated circulating thyroid-stimulating hormone concentration, Increase... |
ORPHA:79318 |
Familial Gestational Hyperthyroidism |
|
Activating thyroid-stimulating hormone receptor defect, Diarrhea, Thyroid hyperplasia, Goiter, Hy... |
ORPHA:99819 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Reduced natural killer cell count, Psoriasiform dermatitis, Decreased proportion of CD4-positive ... |
ORPHA:221139 |
Hyperthyroidism, Nonautoimmune |
|
Thyroid hyperplasia, Goiter, Increased circulating free T3, Increased circulating T4 concentratio... |
OMIM:609152 |
Triosephosphate Isomerase Deficiency |
|
Cholelithiasis, Respiratory distress, Death in infancy, Death in adolescence, Prolonged neonatal ... |
OMIM:615512 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Type I diabetes mellitus, Congenital pulmonary airway malformation, Intrauterine growth retardati... |
ORPHA:436252 |
Hereditary Angioedema Type 1 |
|
Diarrhea, Dermatographic urticaria, Vomiting, Respiratory distress, Abdominal pain, Dyspnea, Naus... |
ORPHA:100050 |
Isolated Right Ventricular Hypoplasia |
|
Dyspnea, Hypoxemia, Cyanosis |
ORPHA:439 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Hyperthyroidism, Goiter |
OMIM:188580 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Respiratory distress, Gastroesophageal reflux, Feeding difficulties, Poor suck |
OMIM:615595 |
Chylomicron Retention Disease |
|
Diarrhea, Vomiting, Growth delay, Abdominal distention, Steatorrhea, Fat malabsorption |
ORPHA:71 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Hypospadias, Abnormal lung lobation, Low-set, posteriorly rotated ears, Cryptorchidism, Ambiguous... |
ORPHA:2166 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Erythema, Sparse eyebrow, Respiratory distress, Sparse eyelashes, Fragile skin, Abnormal pulmonar... |
OMIM:614748 |
Multiple Epiphyseal Dysplasia Type 5 |
|
Multiple small vertebral fractures, Premature osteoarthritis, Abnormal hip joint morphology, Genu... |
ORPHA:93311 |
Stüve-Wiedemann Syndrome |
|
Camptodactyly of finger, Respiratory distress, Elbow flexion contracture, Intrauterine growth ret... |
ORPHA:3206 |
Hypothyroidism, Congenital, Nongoitrous, 9 |
|
Central hypothyroidism, Decreased circulating free T4 concentration, Short stature, Thyroid hypop... |
OMIM:301035 |
Congenital Tufting Enteropathy |
|
Vomiting, Secretory diarrhea, Malabsorption, Arthritis, Abdominal distention, Steatorrhea, Chroni... |
ORPHA:92050 |
Glucose-Galactose Malabsorption |
|
Diarrhea, Vomiting, Malnutrition, Hyperactive bowel sounds, Osmotic diarrhea, Abdominal distention |
ORPHA:35710 |
Mucopolysaccharidosis Type 3 |
|
Abnormal clavicle morphology, Abnormal form of the vertebral bodies, Abnormal rib morphology, Ava... |
ORPHA:581 |
Fetal Akinesia Deformation Sequence 1 |
|
Thin ribs, Slender long bone, Thoracic hypoplasia, Camptodactyly of finger, Hip contracture, Wris... |
OMIM:208150 |
Heterotaxy, Visceral, 7, Autosomal |
|
Pulmonary artery atresia, Pulmonary artery hypoplasia, Total anomalous pulmonary venous return, C... |
OMIM:616749 |
Schimke Immuno-Osseous Dysplasia |
|
Platyspondyly, Shallow acetabular fossae, Abnormality of thyroid physiology, Lumbar hyperlordosis... |
ORPHA:1830 |
Charge Syndrome |
|
Low-set ears, Postnatal growth retardation, Cryptorchidism, Sensorineural hearing impairment, Rad... |
OMIM:214800 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Neonatal insulin-dependent diabetes mellitus, Anterior pituitary agenesis, Pancreatic hypoplasia,... |
ORPHA:2255 |
Liver Failure, Infantile, Transient |
|
Vomiting, Acute hepatic failure, Death in infancy, Feeding difficulties in infancy, Abdominal dis... |
OMIM:613070 |
Diamond-Blackfan Anemia 10 |
|
Low-set ears, Conductive hearing impairment, Atresia of the external auditory canal, Hearing impa... |
OMIM:613309 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Respiratory distress, Hepatic failure, Decreased liver function, Generalized abnormality of skin |
ORPHA:367 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Ectopic posterior pituitary, Anterior pituitary agenesis, Ectopic anterior pituitary gland, Decre... |
ORPHA:95494 |
Classical Ehlers-Danlos Syndrome |
|
Poor wound healing, Chronic constipation, Epicanthus, Fragile skin, Patellar dislocation, Disloca... |
ORPHA:287 |
Plague |
|
Inflammation of the large intestine, Diarrhea, Vomiting, Hearing impairment, Respiratory distress... |
ORPHA:707 |
Nijmegen Breakage Syndrome |
|
Recurrent pneumonia, Recurrent otitis media, Recurrent bronchitis, Autoimmune hemolytic anemia, B... |
OMIM:251260 |
Frontometaphyseal Dysplasia |
|
Joint contracture of the hand, Hearing impairment, Limited elbow movement, Sensorineural hearing ... |
ORPHA:1826 |
Neurooculorenal Syndrome |
|
Ectopic posterior pituitary, Highly arched eyebrow, Central hypothyroidism, Decreased circulating... |
OMIM:620305 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Hematochezia, Diarrhea, Abdominal distention |
ORPHA:103910 |
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Gastroesophageal reflux, Prominent antihelix, Conductive hearing impairment, Nasogastric tube fee... |
ORPHA:466943 |
Rodrigues Blindness |
|
Protruding ear, Nasal flaring, Ectodermal dysplasia, Short stature |
OMIM:268320 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Seborrheic dermatitis, Splenomegaly, Thrombocytopenia, Aspiration pneumonia |
OMIM:301072 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Sparse eyebrow, Absent nipple, Periorbital wrinkles, Respiratory distress, Sparse eyelashes, Abse... |
OMIM:305100 |
Fryns Syndrome |
|
Thin ribs, Short distal phalanx of finger, Joint contracture of the hand, Short thumb, Prominent ... |
OMIM:229850 |
Oromandibular Dystonia |
|
Respiratory distress, Dysphagia, Blepharospasm |
ORPHA:93958 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Hematochezia, Oral cavity telangiectasia, Palmar telangiectasia, Tongue telangiectasia, Nail bed ... |
OMIM:600376 |
Degcags Syndrome |
|
Low-set ears, Hearing impairment, Oral-pharyngeal dysphagia, Premature graying of hair, Genu valg... |
OMIM:619488 |
Cardiac Valvular Dysplasia 2 |
|
Pulmonary artery dilatation, Central cyanosis |
OMIM:620067 |
Pfeiffer Syndrome Type 2 |
|
Respiratory distress, Low-set ears, Tracheomalacia, Atresia of the external auditory canal |
ORPHA:93259 |
Aortic Arch Interruption |
|
Respiratory distress, Cyanosis, Tachypnea, Aortopulmonary window, Exertional dyspnea, Feeding dif... |
ORPHA:2299 |
Aicardi-Goutières Syndrome |
|
Low-set ears, Cutis marmorata, Eyelid coloboma, Prolonged neonatal jaundice, Hypothyroidism, Ptos... |
ORPHA:51 |
Hereditary Acrokeratotic Poikiloderma |
|
Finger syndactyly, Camptodactyly of finger, Abnormal hip bone morphology, Abnormal metacarpal mor... |
ORPHA:2907 |
Eosinophilic Fasciitis |
|
Acrocyanosis, Arthritis |
ORPHA:3165 |
Trisomy 18 |
|
Deviation of finger, Camptodactyly of finger, Abnormal hip bone morphology, Abnormal rib morpholo... |
ORPHA:3380 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Aspiration pneumonia |
OMIM:619482 |
Pfeiffer Syndrome Type 3 |
|
Respiratory distress, Low-set ears, Tracheomalacia, Hearing impairment |
ORPHA:93260 |
Generalized Arterial Calcification Of Infancy |
|
Vomiting, Conductive hearing impairment, Hearing impairment, Stapes ankylosis, Respiratory distre... |
ORPHA:51608 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Low-set ears, Erythema, Recurrent otitis media, Cryptorchidism, Hip contracture, Reduced subcutan... |
OMIM:619503 |
Loeys-Dietz Syndrome 6 |
|
Hip osteoarthritis, Spontaneous pneumothorax, Bruising susceptibility, Downslanted palpebral fiss... |
OMIM:619656 |
Nephrotic Syndrome, Type 1 |
|
Hypothyroidism, Growth delay, Gastroesophageal reflux, Abdominal distention |
OMIM:256300 |
Leptospirosis |
|
Diarrhea, Respiratory distress, Pulmonary hemorrhage, Pleural effusion, Nausea and vomiting, Conj... |
ORPHA:509 |
Limb-Mammary Syndrome |
|
Sparse eyebrow, Absent nipple, Lacrimal duct atresia, Breast aplasia, Absent lacrimal punctum, Ap... |
ORPHA:69085 |
Microcephaly 13, Primary, Autosomal Recessive |
|
Short stature, Intrauterine growth retardation, Subglottic stenosis, Macrotia |
OMIM:616051 |
Alagille Syndrome 1 |
|
Short distal phalanx of finger, Butterfly vertebral arch, Hypoplasia of the ulna, Hemivertebrae, ... |
OMIM:118450 |
Hereditary Fructose Intolerance |
|
Diarrhea, Vomiting, Nausea, Chronic hepatic failure, Constipation, Abdominal distention, Abdomina... |
ORPHA:469 |
Cranioectodermal Dysplasia 2 |
|
Narrow chest, Clinodactyly, Horizontal ribs, Metopic synostosis, Polydactyly, Short ribs, Short n... |
OMIM:613610 |
Spinal muscular atrophy, type I, with congenital bone fractures |
|
Respiratory distress, Congenital hip dislocation |
OMIM:271225 |
Anterior Cutaneous Nerve Entrapment Syndrome |
|
Abdominal distention, Recurrent infection of the gastrointestinal tract, Nausea, Anorexia, Abdomi... |
ORPHA:51890 |
Cornelia De Lange Syndrome 1 |
|
Pneumonia, Otitis media, Thrombocytopenia |
OMIM:122470 |
Letterer-Siwe Disease |
|
Abdominal distention, Stomatitis, Pulmonary infiltrates |
OMIM:246400 |
Acquired Purpura Fulminans |
|
Hepatic failure, Acrocyanosis, Macular purpura |
ORPHA:49566 |
Neuroleptic Malignant Syndrome |
|
Thrombocytosis, Leukocytosis, Thrombocytopenia, Aspiration pneumonia |
ORPHA:94093 |
Niemann-Pick Disease Type C |
|
Aspiration pneumonia, Hepatosplenomegaly, Splenomegaly, Pulmonary infiltrates, Abnormal lung morp... |
ORPHA:646 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Low-set ears, Growth delay, Respiratory distress, Intrauterine growth retardation, Jaundice, Stom... |
ORPHA:79282 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Tongue telangiectasia, Nasal mucosa telangiectasia, Cyanosis, Lip telangiectasia, Conjunctival te... |
OMIM:610655 |
Autosomal Recessive Malignant Osteopetrosis |
|
Narrow chest, Abnormal epiphysis morphology, Bowing of the long bones, Abnormal rib morphology, C... |
ORPHA:667 |
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition |
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Cervix cancer, Multiple enchondromatosis, Posteriorly rotated ears, Multinodular goiter |
OMIM:620189 |
Liver Disease, Severe Congenital |
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Diarrhea, Recurrent otitis media, Pulmonary edema, Epicanthus, Abdominal distention, Jaundice, Hy... |
OMIM:619991 |
Mycophenolate Mofetil Embryopathy |
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Bifid thoracic vertebrae, Atresia of the external auditory canal, Hearing impairment, Tracheomala... |
ORPHA:268249 |
Miller-Dieker Lissencephaly Syndrome |
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Recurrent aspiration pneumonia |
OMIM:247200 |
Isolated Arrhinia |
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Respiratory distress, Absent nasal septal cartilage, Eyelid coloboma, Microtia |
ORPHA:1134 |
Mitochondrial Phosphate Carrier Deficiency |
|
Cyanosis |
OMIM:610773 |
Biotinidase Deficiency |
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Hearing impairment, Respiratory distress, Apnea, Sensorineural hearing impairment, Conjunctivitis... |
ORPHA:79241 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
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Hepatic failure, Respiratory distress, Intrauterine growth retardation, Death in infancy, Abdomin... |
OMIM:617156 |
Osteopetrosis, Autosomal Recessive 7 |
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Multiple rib fractures, Femur fracture |
OMIM:612301 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
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Neonatal death, Abdominal distention |
OMIM:619362 |
Cleft Larynx, Posterior |
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Cyanosis |
OMIM:215800 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
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Recurrent aspiration pneumonia, Recurrent respiratory infections |
ORPHA:397715 |
Methylmalonic Aciduria, Cblb Type |
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Respiratory distress, Feeding difficulties in infancy, Vomiting |
OMIM:251110 |
Congenital Total Pulmonary Venous Return Anomaly |
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Mixed total anomalous pulmonary venous connection, Paroxysmal dyspnea, Poor suck, Respiratory dis... |
ORPHA:99125 |
Adult-Onset Autosomal Dominant Leukodystrophy |
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Aspiration pneumonia |
ORPHA:99027 |
Cardiogenic Shock |
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Dyspnea, Cyanosis, Orthopnea, Hypoxemia |
ORPHA:97292 |
Pancreatic Triacylglycerol Lipase Deficiency |
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Diarrhea, Exocrine pancreatic insufficiency, Colitis, Keratoconjunctivitis sicca, Abdominal diste... |
ORPHA:309031 |
Methylmalonic Aciduria, Cbla Type |
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Respiratory distress, Feeding difficulties in infancy, Vomiting |
OMIM:251100 |
Mucopolysaccharidosis Type 2, Severe Form |
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Abnormal vertebral morphology, Camptodactyly of finger, Spinal canal stenosis, Arthritis, Hip dys... |
ORPHA:217085 |
Eisenmenger Syndrome |
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Respiratory distress, Cyanosis, Aortopulmonary window, Exertional dyspnea, Abdominal distention, ... |
ORPHA:97214 |
Pagod Syndrome |
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Abnormal clavicle morphology, Abnormal rib morphology |
ORPHA:991 |
Chronic Graft Versus Host Disease |
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Urinary bladder inflammation, Fasciitis, Pancytopenia, Pleural effusion, Pulmonary infiltrates, P... |
ORPHA:99921 |
Mucopolysaccharidosis Type 2, Attenuated Form |
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Abnormal vertebral morphology, Camptodactyly of finger, Spinal canal stenosis, Arthritis, Hip dys... |
ORPHA:217093 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
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Hypersplenism, Interstitial pneumonitis, Splenomegaly, Thrombocytopenia, Acute promyelocytic leuk... |
ORPHA:77293 |
Visceral Myopathy 1 |
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Diarrhea, Vomiting, Intestinal pseudo-obstruction, Malnutrition, Gastroparesis, Constipation, Abd... |
OMIM:155310 |
Mandibuloacral Dysplasia Progeroid Syndrome |
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Thin ribs, Sandal gap, Delayed cranial suture closure, Decreased fibular diameter, Dysplasia of t... |
OMIM:619127 |
Developmental And Epileptic Encephalopathy 68 |
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Respiratory distress |
OMIM:618201 |
Oculopharyngodistal Myopathy 1 |
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Bilateral ptosis, Respiratory distress, Sensorineural hearing impairment, Ptosis, Dysphagia, Hype... |
OMIM:164310 |
Lysosomal Acid Lipase Deficiency |
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Hepatic failure, Diarrhea, Vomiting, Decreased liver function, Malnutrition, Adrenal calcificatio... |
ORPHA:275761 |
Multiple Endocrine Neoplasia, Type Iia |
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Thyroid C cell hyperplasia, Hyperparathyroidism, Increased circulating cortisol level, Pheochromo... |
OMIM:171400 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
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Sensorineural hearing impairment, Peritonitis, Bronchomalacia, Abdominal distention, Pulmonary hy... |
OMIM:619351 |
Townes-Brocks Syndrome |
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Toe clinodactyly, Abnormal vertebral morphology, Ulnar deviation of finger, Broad thumb, Toe synd... |
ORPHA:857 |
Congenital Fiber-Type Disproportion Myopathy |
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Recurrent respiratory infections, Aspiration pneumonia |
ORPHA:2020 |
Mowat-Wilson Syndrome |
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Vomiting, Cupped ear, Bifid scrotum, Downslanted palpebral fissures, Large earlobe, Recurrent oti... |
OMIM:235730 |
Alkaptonuria |
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Brown pigmentation of the conjunctiva, Intervertebral disk degeneration, Arthropathy, Arthritis, ... |
OMIM:203500 |
Malakoplakia |
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Diarrhea, Abnormality of the menstrual cycle, Orchitis, Abdominal pain, Prostate neoplasm |
ORPHA:556 |
Interstitial Cystitis |
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Abnormality of the menstrual cycle, Abnormal labia morphology, Dyspareunia, Abnormal vagina morph... |
ORPHA:37202 |
Coffin-Siris Syndrome |
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Recurrent upper respiratory tract infections, Aspiration pneumonia |
ORPHA:1465 |
Cleidocranial Dysplasia 1 |
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Kyphosis, Hearing impairment, Persistent open anterior fontanelle, Respiratory distress, Wormian ... |
OMIM:119600 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
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Low-set ears, Gastroesophageal reflux, Pulmonary artery dilatation, Hearing impairment, Knee disl... |
OMIM:619534 |
Pachyonychia Congenita |
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Respiratory distress, Feeding difficulties |
ORPHA:2309 |
Diarrhea 1, Secretory Chloride, Congenital |
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Secretory diarrhea, Hyperaldosteronism, Abdominal distention, Hyperactive renin-angiotensin syste... |
OMIM:214700 |
Marshall-Smith Syndrome |
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Recurrent aspiration pneumonia, Recurrent upper respiratory tract infections, Aspiration pneumonia |
OMIM:602535 |
Colchicine Poisoning |
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Respiratory distress, Nausea, Vomiting, Diarrhea |
ORPHA:31824 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
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Fulminant hepatic failure, Abdominal distention |
OMIM:618528 |
Mitochondrial Dna-Associated Leigh Syndrome |
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Hepatic failure, Apnea, Sensorineural hearing impairment, Episodic respiratory distress, Episodic... |
ORPHA:255210 |
Mirizzi Syndrome |
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Cholelithiasis, Vomiting, Abdominal distention, Abdominal colic, Anorexia, Nausea, Abdominal pain... |
ORPHA:521219 |
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
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Congenital hypothyroidism, Bilateral sensorineural hearing impairment, Thyroid hypoplasia, Macrot... |
ORPHA:521445 |
Ulnar-Mammary Syndrome |
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Ectopic posterior pituitary, Axillary apocrine gland hypoplasia, Small scrotum, Imperforate hymen... |
OMIM:181450 |
Charge Syndrome |
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Bifid femur, Abnormal tibia morphology, Polydactyly, Brachydactyly, Hemivertebrae, Abnormal rib m... |
ORPHA:138 |
Hereditary Spherocytosis |
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Cholelithiasis, Gout, Abdominal pain, Abdominal distention, Jaundice, Growth delay |
ORPHA:822 |
African Trypanosomiasis |
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Diarrhea, Vomiting, Abnormality of the menstrual cycle, Abnormality of circulating cortisol level... |
ORPHA:3385 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
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Respiratory distress, Jaundice, Prolonged neonatal jaundice |
OMIM:274150 |
Familial Visceral Myopathy |
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Low-set, posteriorly rotated ears, Hyperparathyroidism, Abdominal distention, Camptodactyly of fi... |
ORPHA:2604 |
Igg4-Related Dacryoadenitis And Sialadenitis |
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Xerostomia, Abnormal salivary gland morphology, Abnormality of the submandibular glands, Enlargem... |
ORPHA:79078 |
Criss-Cross Heart |
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Cyanosis, Feeding difficulties |
ORPHA:1461 |
Junctional Epidermolysis Bullosa With Pyloric Atresia |
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Pterygium, Nausea and vomiting, Abdominal distention, Ectropion |
ORPHA:79403 |
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies |
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Low-set ears, Rectovaginal fistula, Secretory diarrhea, Abdominal distention |
OMIM:270420 |
Fanconi-Bickel Syndrome |
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Postnatal growth retardation, Malabsorption, Poor appetite, Abdominal distention |
OMIM:227810 |
Lafora Disease |
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Recurrent aspiration pneumonia |
ORPHA:501 |
Restrictive Dermopathy |
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Thin ribs, Camptodactyly of finger, Increased anterioposterior diameter of thorax, Aplasia/Hypopl... |
ORPHA:1662 |
Kasabach-Merritt Phenomenon |
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Hypopnea, Respiratory distress, Petechiae, Abdominal distention, Abdominal pain, Purpura |
ORPHA:2330 |
Fanconi-Bickel Syndrome |
|
Hepatic failure, Diabetes mellitus, Abdominal distention, Growth delay |
ORPHA:2088 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
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Disproportionate short-limb short stature, Uterus didelphys, Absent or minimally ossified vertebr... |
ORPHA:93271 |
Cardiac Valvular Dysplasia 1 |
|
Pulmonary artery atresia, Cyanosis |
OMIM:212093 |
Acute Intermittent Porphyria |
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Diarrhea, Pseudobulbar paralysis, Ileus, Nausea and vomiting, Constipation, Abdominal distention,... |
ORPHA:79276 |
Carney Complex, Type 1 |
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Pituitary adenoma, Pheochromocytoma, Thyroid carcinoma, Thyroid follicular hyperplasia, Elevated ... |
OMIM:160980 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Recurrent aspiration pneumonia, Peripheral pulmonary artery stenosis, Blepharitis |
ORPHA:280633 |
Primary Biliary Cholangitis |
|
Hepatic failure, Dermatographic urticaria, Xanthelasma, Abnormality of the thyroid gland, Gastroi... |
ORPHA:186 |
Familial Adenomatous Polyposis |
|
Neoplasm of the gallbladder, Pituitary adenoma, Goiter, Pancreatic adenocarcinoma, Abnormality of... |
ORPHA:733 |
Pancreatoblastoma |
|
Abdominal pain, Vomiting, Diarrhea, Abdominal distention |
ORPHA:677 |
Fraser Syndrome 2 |
|
Low-set ears, Atresia of the external auditory canal, Cryptophthalmos, Hypoplasia of the thymus, ... |
OMIM:617666 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Pneumonia, Recurrent respiratory infections, Otitis media |
ORPHA:353281 |
Castleman Disease |
|
Nausea and vomiting, Intestinal obstruction, Abdominal pain, Abdominal distention, Dyspnea, Jaundice |
ORPHA:160 |
Microvillus Inclusion Disease |
|
Diarrhea, Abdominal distention |
ORPHA:2290 |
Wiedemann-Rautenstrauch Syndrome |
|
Thin ribs, Hypoplastic ilia, Narrow chest, Clinodactyly, Slender long bone, Short humerus, Long t... |
OMIM:264090 |
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures |
|
Subglottic stenosis, Feeding difficulties |
OMIM:614501 |
Gallbladder Neuroendocrine Tumor |
|
Neuroendocrine neoplasm, Anorexia, Intermittent jaundice, Episodic abdominal pain, Abdominal dist... |
ORPHA:100086 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Hypoperistalsis, Nausea and vomiting, Death in infancy, Abdominal distention |
ORPHA:2241 |
Phace Association |
|
Congenital hypothyroidism, Horner syndrome, Lingual thyroid |
OMIM:606519 |
Cardiac-Urogenital Syndrome |
|
Tracheomalacia, Bifid scrotum, Scimitar anomaly, Cryptorchidism, Aplasia of the uterus, Ambiguous... |
OMIM:618280 |
Phace Syndrome |
|
Abnormality of the orbital region, Ptosis, Hypothyroidism, Ectopic thyroid |
ORPHA:42775 |
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
|
Conjunctival telangiectasia, Multinodular goiter |
OMIM:618373 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Fasciitis, Osteomyelitis, Abscess, Anemia, Tooth abscess, Septic arthritis, Recurrent aspiration ... |
ORPHA:642 |
Currarino Syndrome |
|
Hemisacrum, Septate vagina, Bifid sacrum, Chronic constipation, Abdominal distention, Gastrointes... |
OMIM:176450 |
Semilobar Holoprosencephaly |
|
Aspiration pneumonia |
ORPHA:220386 |
Alobar Holoprosencephaly |
|
Aspiration pneumonia |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Aspiration pneumonia |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Aspiration pneumonia |
ORPHA:93924 |
Colonic Atresia |
|
Abdominal distention |
ORPHA:1198 |
Wilson Disease |
|
Hepatic failure, Chondrocalcinosis, Vomiting, Acute hepatic failure, Osteoarthritis, Abdominal di... |
OMIM:277900 |
Loeys-Dietz Syndrome 3 |
|
Hip osteoarthritis, Spontaneous pneumothorax, Bruising susceptibility, Cystocele, Osteochondritis... |
OMIM:613795 |
Fontaine Progeroid Syndrome |
|
Recurrent aspiration pneumonia, Pneumothorax, Pulmonary hypoplasia |
OMIM:612289 |
Cowden Syndrome 7 |
|
Hashimoto thyroiditis, Ductal carcinoma in situ, Papillary thyroid carcinoma, Goiter |
OMIM:616858 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Feeding difficulties in infancy, Abdominal distention |
ORPHA:309256 |
Cirrhosis, Familial |
|
Fulminant hepatitis, Abdominal distention |
OMIM:215600 |
Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Vomiting, Abdominal distention, Fragile skin, Skin fragility with non-scarring blistering, Microtia |
ORPHA:158684 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Thyroid C cell hyperplasia, Lacrimal duct atresia |
OMIM:300952 |
Metachromatic Leukodystrophy, Adult Form |
|
Bilateral sensorineural hearing impairment, Neoplasm of the gallbladder, Bowel incontinence, Abdo... |
ORPHA:309271 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Pulmonary artery atresia, Cyanosis |
ORPHA:216694 |
Osteopetrosis With Renal Tubular Acidosis |
|
Prominent floating ribs, Pectus excavatum |
ORPHA:2785 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Pneumonia, Recurrent respiratory infections, Otitis media |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Pneumonia, Recurrent respiratory infections, Otitis media |
ORPHA:353277 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Abdominal distention |
ORPHA:309263 |
Glomuvenous Malformation |
|
Abnormal tracheal morphology, Generalized abnormality of skin |
ORPHA:83454 |
Hyperoxaluria, Primary, Type I |
|
Cutis marmorata, Acrocyanosis |
OMIM:259900 |
Aneurysm-Osteoarthritis Syndrome |
|
Bruising susceptibility, Camptodactyly of finger, Osteochondritis dissecans, Intervertebral disk ... |
ORPHA:284984 |
Primary Hyperoxaluria |
|
Cutis marmorata, Acrocyanosis |
ORPHA:416 |
Yunis-Varon Syndrome |
|
Aspiration pneumonia |
OMIM:216340 |
Atresia Of Urethra |
|
Abdominal distention |
ORPHA:105 |
Multicystic Dysplastic Kidney |
|
Multicystic kidney dysplasia, Cryptorchidism, Abdominal distention |
ORPHA:1851 |