Brachydactyly, Type A1 |
|
Flattened metatarsal heads, Short metacarpal, Brachydactyly, Proportionate shortening of all digi... |
OMIM:112500 |
Emphysema, Hereditary Pulmonary |
|
Emphysema, Chronic pulmonary obstruction, Chronic bronchitis |
OMIM:130700 |
Brachydactyly, Type A1, D |
|
Short proximal phalanx of thumb, Short proximal phalanx of finger, Short middle phalanx of the 5t... |
OMIM:616849 |
Carbimazole Sensitivity |
|
Drug-induced agranulocytosis |
OMIM:212060 |
Brachydactyly, Type C |
|
Triangular shaped middle phalanx of the 2nd finger, Hypersegmentation of proximal phalanx of seco... |
OMIM:113100 |
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant |
|
Macrothrombocytopenia |
OMIM:619840 |
Brachydactyly Type A2 |
|
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Short foot, Short middle phalanx of f... |
ORPHA:93396 |
Aortic Aneurysm, Familial Thoracic 7 |
|
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture |
OMIM:613780 |
Acromesomelic Dysplasia 2C |
|
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Single ... |
OMIM:201250 |
Aortic Aneurysm, Familial Thoracic 8 |
|
Coronary artery dissection, Descending aortic dissection, Coronary artery aneurysm, Ascending aor... |
OMIM:615436 |
Bleeding Disorder, Platelet-Type, 15 |
|
Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume |
OMIM:615193 |
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia |
ORPHA:494444 |
Metaphyseal Dysplasia Without Hypotrichosis |
|
Metaphyseal dysplasia, Short metacarpal, Abnormal hair morphology, Cone-shaped epiphyses of the p... |
OMIM:250460 |
Thrombocytopenia 4 |
|
Abnormal platelet volume, Thrombocytopenia |
OMIM:612004 |
Syndactyly Type 4 |
|
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ... |
ORPHA:93405 |
Brachydactyly, Type A1, B |
|
Type A brachydactyly, Cone-shaped epiphyses of the phalanges of the hand, Short middle phalanx of... |
OMIM:607004 |
Brachydactyly Type A1 |
|
Hypoplasia of the ulna, Short hallux, Short thumb, Short foot, Cone-shaped epiphysis, Short middl... |
ORPHA:93388 |
Acromesomelic Dysplasia 2A |
|
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... |
OMIM:200700 |
Wahab Syndrome |
|
Syndactyly, Short metacarpal, Short thumb, Short foot, Short palm, Clinodactyly, Camptodactyly, A... |
OMIM:615170 |
Aortic Aneurysm, Familial Thoracic 4 |
|
Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebral artery stenosis, Th... |
OMIM:132900 |
Bleeding Disorder, Platelet-Type, 16 |
|
Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Impaired platelet aggregat... |
OMIM:187800 |
Osebold-Remondini Syndrome |
|
Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Decreased finger mobility,... |
OMIM:112910 |
Exercise Intolerance, Riboflavin-Responsive |
|
Ragged-red muscle fibers |
OMIM:616839 |
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly |
|
Short metacarpal, Rhizomelia, Postaxial hand polydactyly, Broad palm, Short foot, Mesomelia, Brac... |
OMIM:611263 |
Platelet Glycoprotein Iv Deficiency |
|
Giant platelets, Thrombocytopenia |
OMIM:608404 |
Aortic Aneurysm, Familial Thoracic 6 |
|
Thoracic aortic aneurysm, Descending aortic dissection, Premature coronary artery atherosclerosis... |
OMIM:611788 |
Familial Aortic Dissection |
|
Cardiomegaly, Descending thoracic aorta aneurysm, Patent ductus arteriosus, Mucoid extracellular ... |
ORPHA:229 |
Epiphyseal Dysplasia, Multiple, 5 |
|
Epiphyseal dysplasia, Short metacarpal, Coxa vara, Genu valgum, Irregular epiphyses, Small epiphy... |
OMIM:607078 |
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To |
|
Descending aortic dissection, Ascending aortic dissection, Aortic aneurysm |
OMIM:617349 |
Thiemann Disease |
|
Broad phalanx, Short phalanx of finger |
OMIM:165700 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Micromelia, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb undergrowth, Short ... |
OMIM:118651 |
Bleeding Disorder, Platelet-Type, 24 |
|
Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat... |
OMIM:619271 |
Polyglucosan Body Myopathy 2 |
|
Pelvic girdle amyotrophy, Muscle fiber inclusion bodies, Peroneal muscle weakness, Hand muscle we... |
OMIM:616199 |
Heart Defects-Limb Shortening Syndrome |
|
Atrial septal defect, Ventricular septal defect, Kyphosis, Abnormal rib morphology, Abnormal form... |
ORPHA:1354 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... |
OMIM:314050 |
Epiphyseal Dysplasia, Multiple, 4 |
|
Epiphyseal dysplasia, Short metacarpal, Hypoplasia of the femoral head, Flat capital femoral epip... |
OMIM:226900 |
Hypertension And Brachydactyly Syndrome |
|
Cone-shaped epiphysis, Short metacarpal, Short phalanx of finger, Type E brachydactyly |
OMIM:112410 |
Congenital Lobar Emphysema |
|
Respiratory distress, Emphysema |
ORPHA:1928 |
Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification |
|
Delayed epiphyseal ossification, Cone-shaped epiphysis, Short middle phalanx of finger, Delayed o... |
OMIM:182255 |
Metacarpal 4-5 Fusion |
|
Clinodactyly of the 5th finger, 2-3 toe cutaneous syndactyly, 4-5 metacarpal synostosis, Short 5t... |
OMIM:309630 |
Bronchopulmonary Dysplasia |
|
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Right ve... |
ORPHA:70589 |
Ulnar Hypoplasia |
|
Hypoplasia of the ulna, Radial bowing, Ulnar deviation of the hand, Hypoplasia of the radius, Mes... |
OMIM:191440 |
Leri-Weill Dyschondrosteosis |
|
Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul... |
OMIM:127300 |
Brachydactyly-Syndactyly, Zhao Type |
|
Hallux valgus, Toe syndactyly, Short fifth metatarsal, Short middle phalanx of the 2nd finger, Sy... |
ORPHA:93409 |
Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia |
OMIM:162830 |
Brachydactyly, Preaxial, With Hallux Varus And Thumb Abduction |
|
Short metacarpal, Short hallux, Hallux varus, Short thumb, Short metatarsal, Hitchhiker thumb, Sh... |
OMIM:112450 |
Mass Syndrome |
|
Pectus carinatum, Mitral valve prolapse, Ascending aortic dissection, Scoliosis, Aortic aneurysm |
OMIM:604308 |
Idiopathic Bronchiectasis |
|
Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Myocardial... |
ORPHA:60033 |
Langer Mesomelic Dysplasia |
|
Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Madelung deformity... |
OMIM:249700 |
Myopathy, Distal, With Rimmed Vacuoles |
|
Skeletal muscle atrophy, Scapular winging, Internally nucleated skeletal muscle fibers, Facial pa... |
OMIM:617158 |
Pulmonary Capillary Hemangiomatosis |
|
Pulmonary edema, Diffuse alveolar hemorrhage, Pericardial effusion, Right ventricular failure, Dy... |
ORPHA:199241 |
Congenital Alpha2-Antiplasmin Deficiency |
|
Abnormal bleeding, Intracranial hemorrhage, Abnormal umbilical stump bleeding, Gingival bleeding,... |
ORPHA:79 |
Brachydactyly Type B |
|
Type B brachydactyly, Finger syndactyly, Short metacarpal, 2nd-5th toe middle phalangeal hypoplas... |
ORPHA:93383 |
Mental Retardation Syndrome, Mietens-Weber Type |
|
Pes planus, Elbow flexion contracture, Forearm undergrowth, Absent proximal radial epiphyses, Dis... |
OMIM:249600 |
Split-Hand/Foot Malformation 2 |
|
Finger syndactyly, Short metacarpal, Split hand, Split foot, Short phalanx of finger |
OMIM:313350 |
Giant platelet syndrome with thrombocytopenia |
|
Giant platelets, Thrombocytopenia |
OMIM:137560 |
Lethal Faciocardiomelic Dysplasia |
|
Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ... |
ORPHA:1972 |
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant |
|
Internally nucleated skeletal muscle fibers, Autophagic vacuoles, Increased variability in muscle... |
OMIM:618655 |
Brachydactyly-Arterial Hypertension Syndrome |
|
Short metacarpal, Short phalanx of finger, Brachydactyly |
ORPHA:1276 |
Diamond-Blackfan Anemia 18 |
|
Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia |
OMIM:618310 |
Brachydactyly Type A7 |
|
Hallux valgus, Short 2nd finger, Sandal gap, Short hallux, Aplasia/Hypoplasia of the middle phala... |
ORPHA:93397 |
Léri-Weill Dyschondrosteosis |
|
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... |
ORPHA:240 |
Aortic Aneurysm, Familial Thoracic 9 |
|
Thoracic aortic aneurysm, Pectus excavatum, Pectus carinatum, Mitral valve prolapse, Ascending ao... |
OMIM:616166 |
Aortic Valve Disease 3 |
|
Bicuspid aortic valve, Aortic root aneurysm, Ascending aortic dissection, Atrial septal defect, A... |
OMIM:618496 |
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
|
Short tibia, Hypoplasia of the radius, Pseudoarthrosis |
OMIM:156230 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Neonatal respiratory distress, Coronary artery calcification, Myocardial infarction, Cardiomegaly... |
OMIM:208000 |
Inclusion Body Myositis |
|
Skeletal muscle atrophy, Abnormal muscle fiber morphology, Quadriceps muscle weakness, Ragged-red... |
ORPHA:611 |
Curved Nail Of Fourth Toe |
|
Short distal phalanx of finger |
OMIM:219070 |
Ulnar Hypoplasia With Mental Retardation |
|
Bilateral ulnar hypoplasia, Limitation of knee mobility, Talipes equinovarus, Limited elbow movement |
OMIM:276821 |
Acromicric Dysplasia |
|
Short metacarpal, Cone-shaped epiphysis, Short foot, Short long bone, Long eyelashes, Short palm,... |
OMIM:102370 |
Allergic Bronchopulmonary Aspergillosis |
|
Asthma, Bronchiectasis, Respiratory insufficiency, Cough, Pulmonary arterial hypertension, Emphysema |
ORPHA:1164 |
Sugarman Brachydactyly |
|
Short proximal phalanx of finger, Double first metacarpals, Symphalangism affecting the proximal ... |
OMIM:272150 |
Immunodeficiency 18 |
|
Decreased proportion of CD3-positive T cells, Lymphopenia |
OMIM:615615 |
Heyn-Sproul-Jackson Syndrome |
|
11 pairs of ribs, Short metacarpal, Sparse hair, Broad phalanx, Short phalanx of finger, Broad me... |
OMIM:618724 |
Fetal Cytomegalovirus Syndrome |
|
Splenomegaly, Hepatomegaly, Anemia |
ORPHA:294 |
Pulmonary Arteriovenous Malformation |
|
Abnormal bleeding, Transient ischemic attack, Epistaxis, Myocardial infarction, Cough, Dyspnea, H... |
ORPHA:2038 |
Ulnar Hypoplasia-Split Foot Syndrome |
|
Split hand, Aplasia/Hypoplasia of the radius, Split foot, Hypoplasia of the ulna |
ORPHA:1122 |
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals |
|
Osteolysis of talus, Osteolysis of scaphoids, Short 4th metacarpal, Osteolysis of patellae |
OMIM:609655 |
Nonaka Myopathy |
|
Distal amyotrophy, EMG: myopathic abnormalities, Distal lower limb muscle weakness, Deposits immu... |
OMIM:605820 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Sclerosis of middle... |
ORPHA:85188 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant |
|
Type 2 muscle fiber predominance, Proximal muscle weakness in lower limbs, Proximal lower limb am... |
OMIM:158600 |
Epiphyseal Dysplasia, Multiple, 1 |
|
Epiphyseal dysplasia, Short metacarpal, Pes planus, Avascular necrosis of the capital femoral epi... |
OMIM:132400 |
Syndactyly Type 2 |
|
Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff... |
ORPHA:93403 |
Pulmonary Alveolar Microlithiasis |
|
Bronchitis, Nonproductive cough, Tachypnea, Gonadal calcification, Oxygen desaturation on exertio... |
ORPHA:60025 |
Arms, Malformation Of |
|
Hypoplasia of the ulna, Radioulnar synostosis, Hypoplasia of the radius |
OMIM:107900 |
Hypocomplementemic Urticarial Vasculitis |
|
Uveitis, Conjunctivitis, Cough, Emphysema, Hepatomegaly, Glomerulopathy, Pericardial effusion, Re... |
ORPHA:36412 |
Talo-Patello-Scaphoid Osteolysis |
|
Osteolysis of talus, Osteolysis of scaphoids, Short 4th metacarpal, Osteolysis of patellae |
ORPHA:50809 |
Brachydactyly, Type A2 |
|
Hallux valgus, Triangular shaped middle phalanx of the 2nd finger, Broad hallux, Short hallux, Ul... |
OMIM:112600 |
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Leukocyte inclusion bodies, Giant platelets, Macrothrombocytopenia, Neutrophil inclusion bodies, ... |
OMIM:155100 |
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification |
|
Emphysema, Cerebral berry aneurysm, Portal hypertension |
OMIM:210050 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Respiratory tract infection, Hypersensitivity pneumonitis, Nonproductive cough, Chronic pulmonary... |
ORPHA:79127 |
Brachydactyly, Type A1, C |
|
Brachydactyly, Short middle phalanx of the 2nd finger, Short middle phalanx of the 3rd finger, Bi... |
OMIM:615072 |
Acrocapitofemoral Dysplasia |
|
Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short... |
OMIM:607778 |
Gollop-Wolfgang Complex |
|
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o... |
ORPHA:1986 |
Digital Arthropathy-Brachydactyly, Familial |
|
Brachytelomesophalangy, Short middle phalanx of finger, Radial deviation of finger, Short distal ... |
OMIM:606835 |
Myopathy, Distal, 5 |
|
Myopathy, Distal amyotrophy, Muscle fiber splitting, Weakness of facial musculature, Distal lower... |
OMIM:617030 |
Epiphyseal Dysplasia, Multiple, 3 |
|
Epiphyseal dysplasia, Short metacarpal, Delayed epiphyseal ossification, Limited elbow extension,... |
OMIM:600969 |
Acromesomelic Dysplasia, Grebe Type |
|
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... |
ORPHA:2098 |
Upper Limb Mesomelic Dysplasia |
|
Hypoplasia of the ulna, Radial bowing, Ulnar deviation of finger |
ORPHA:2497 |
Undritz Anomaly |
|
Hypersegmentation of neutrophil nuclei |
OMIM:191500 |
Acheiropody |
|
Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t... |
OMIM:200500 |
Synpolydactyly 1 |
|
2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac... |
OMIM:186000 |
Fibromuscular Dysplasia, Arterial |
|
Arterial fibromuscular dysplasia, Stroke, Aortic dissection |
OMIM:135580 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Bicuspid aortic valve, Cardiomegaly, Descending thoracic aorta aneurysm, Abnormal left ventricula... |
ORPHA:91387 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Joint stiffness, Tetralogy of Fallot,... |
ORPHA:1166 |
Faciocardiomelic Dysplasia, Lethal |
|
Hypoplasia of the ulna, Radial deviation of the hand, Single transverse palmar crease, Talipes, M... |
OMIM:227270 |
Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Hypoplasia of the ulna, Broad hallux, Talipes, Limited elbow extension, Short metatarsal, Flatten... |
ORPHA:1856 |
Distal Duplication 14Q |
|
Patent ductus arteriosus, Abnormal aortic morphology, Abnormal lung lobation |
ORPHA:1705 |
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Elbow dislocation, Abnormal tibi... |
ORPHA:2634 |
Ulna Hypoplasia-Intellectual Disability Syndrome |
|
Hypoplasia of the ulna, Broad hallux phalanx, Talipes, Micromelia, Metatarsus adductus, Elbow dis... |
ORPHA:2249 |
Exostoses, Multiple, Type Ii |
|
Short metacarpal, Pelvic bone exostoses, Protuberances at ends of long bones, Coxa vara, Genu val... |
OMIM:133701 |
Exostoses, Multiple, Type I |
|
Short metacarpal, Pelvic bone exostoses, Protuberances at ends of long bones, Coxa vara, Genu val... |
OMIM:133700 |
Pseudoachondroplasia |
|
Delayed epiphyseal ossification, Metaphyseal widening, Increased laxity of ankles, Abnormal femor... |
ORPHA:750 |
Obesity |
|
Increased waist to hip ratio, Obesity, Decreased resting energy expenditure |
OMIM:601665 |
Familial Digital Arthropathy-Brachydactyly |
|
Osteoarthritis of the small joints of the hand, Brachydactyly, Shortening of all distal phalanges... |
ORPHA:85169 |
Extracranial Carotid Artery Aneurysm |
|
Subarachnoid hemorrhage, Vasculitis, Arteriosclerosis, Hypertension, Upper limb muscle weakness, ... |
ORPHA:494424 |
Spondyloperipheral Dysplasia |
|
Short distal phalanx of the 4th finger, Short metatarsal, Hypoplasia of the ulna, Short metacarpa... |
OMIM:271700 |
Brachydactyly-Preaxial Hallux Varus Syndrome |
|
Short metacarpal, Micrognathia, Preaxial hand polydactyly, Radial club hand, Synophrys, Short met... |
ORPHA:1278 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10 |
|
Descending aortic dissection, Bruising susceptibility, Ascending aortic dissection, Bronchiectasis |
OMIM:620080 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Tricuspid regurgitation, Bicuspid aortic valve, Congenital diaphragmatic hernia, Proximal placeme... |
ORPHA:1120 |
Brachydactyly Type E |
|
Short metacarpal, Aplasia/Hypoplasia of the distal phalanx of the hallux, Short metatarsal, Upper... |
ORPHA:93387 |
Heart-Hand Syndrome Type 2 |
|
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micromelia, Abnormality of the hume... |
ORPHA:1350 |
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Brachydactyly, Aplasia/Hypoplasia of the fibula, Short foot, Aplasia/Hypoplasia of the ulna, Shor... |
ORPHA:52056 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Short humerus, Short metacarpal, Rhizomelia, Short metatarsal, Coxa vara, Deformed humeral heads,... |
OMIM:601438 |
Congenital Heart Defects, Multiple Types, 2 |
|
Bicuspid aortic valve, Ventricular septal defect, Myxomatous mitral valve degeneration, Subvalvul... |
OMIM:614980 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Omphalocele, Finger syndactyly, Congenital diaphragmatic hernia, Aplasia/hypoplasia of the humeru... |
ORPHA:2141 |
Aortic Aneurysm, Familial Thoracic 12 |
|
Aortic regurgitation, Bicuspid aortic valve, Spontaneous pneumothorax, Chronic pulmonary obstruct... |
OMIM:619825 |
Bare Lymphocyte Syndrome, Type I |
|
Bronchiectasis, Bronchiolitis, Emphysema, Chronic sinusitis, Chronic otitis media, Recurrent bron... |
OMIM:604571 |
Van Bogaert-Hozay Syndrome |
|
Abnormal hair morphology, Distal ulnar hypoplasia, Osteolytic defects of the phalanges of the han... |
OMIM:277150 |
Alpha-1-Antitrypsin Deficiency |
|
Chronic bronchitis, Dyspnea, Panacinar emphysema, Chronic pulmonary obstruction, Wheezing, Bronch... |
OMIM:613490 |
Sarcoidosis, Susceptibility To, 2 |
|
Erythema nodosum, Dyspnea, Pneumothorax, Bronchiectasis, Abnormal pulmonary interstitial morpholo... |
OMIM:612387 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... |
OMIM:228930 |
Alpha-2-Plasmin Inhibitor Deficiency |
|
Bruising susceptibility, Joint hemorrhage, Persistent bleeding after trauma, Hemothorax |
OMIM:262850 |
Birt-Hogg-Dubé Syndrome |
|
Parathyroid adenoma, Emphysema, Pneumothorax, Pulmonary sequestration |
ORPHA:122 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion |
OMIM:183350 |
Calcification Of Joints And Arteries |
|
Coronary artery calcification, Iliac arterial calcification, Femoral arterial calcification, Inte... |
OMIM:211800 |
Multiple Osteochondromas |
|
Deformed radius, Abnormal tibia morphology, Metaphyseal widening, Abnormal carpal morphology, Abn... |
ORPHA:321 |
Cutis Laxa, Autosomal Recessive, Type Ia |
|
Joint laxity, Recurrent respiratory infections, Inguinal hernia, Arachnodactyly, Congenital diaph... |
OMIM:219100 |
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type |
|
Foot dorsiflexor weakness, Peroneal muscle atrophy, Z-band streaming, Weakness of facial musculat... |
OMIM:181400 |
Split-Hand/Foot Malformation 4 |
|
Syndactyly, Aplasia/Hypoplasia of the phalanges of the hand, Split hand, Aplasia/Hypoplasia of th... |
OMIM:605289 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Nodular pattern on pulmonary HRCT, Hypermobility of distal interphalangeal joints, Periodontitis,... |
OMIM:130050 |
Loeys-Dietz Syndrome 4 |
|
Joint laxity, Inguinal hernia, Torticollis, Bicuspid aortic valve, Arachnodactyly, Eosinophilic i... |
OMIM:614816 |
Pericardial And Diaphragmatic Defect |
|
Neonatal respiratory distress, Bicuspid aortic valve, Congenital diaphragmatic hernia, Pectus exc... |
ORPHA:2847 |
Cutis Laxa-Marfanoid Syndrome |
|
Emphysema, Flexion contracture, Abnormal heart valve morphology, Congenital diaphragmatic hernia |
ORPHA:171719 |
Cutis Laxa, Neonatal, With Marfanoid Phenotype |
|
Emphysema, Abnormal heart morphology |
OMIM:614100 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 |
|
Proximal upper limb amyotrophy, Myopathy, Shoulder girdle muscle weakness, Limb-girdle muscular d... |
OMIM:609115 |
Acromesomelic Dysplasia 2B |
|
Short metacarpal, Brachydactyly, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Short m... |
OMIM:228900 |
Eiken Syndrome |
|
Epiphyseal dysplasia, Absence of the sacrum, Abnormal acetabulum morphology, Abnormal fingertip m... |
ORPHA:79106 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 |
|
Fatty replacement of skeletal muscle, Calf muscle hypertrophy, Proximal muscle weakness in lower ... |
OMIM:618848 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t... |
OMIM:246570 |
Gne Myopathy |
|
Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc... |
ORPHA:602 |
Syndactyly Type 5 |
|
Camptodactyly of finger, 2-3 toe syndactyly, Ulnar deviation of finger, Metacarpal synostosis, Cl... |
ORPHA:93406 |
Ulnar Hemimelia |
|
Glenoid fossa hypoplasia, Limited elbow movement, Abnormal calcification of the carpal bones, Apl... |
ORPHA:93320 |
Immunodeficiency 51 |
|
Recurrent respiratory infections, Recurrent skin infections, Eczema, Pneumonia, Pustule, Chronic ... |
OMIM:613953 |
Marfanoid Habitus With Situs Inversus |
|
Situs inversus totalis, Kyphosis, Pectus carinatum, Mitral valve prolapse, Aortic root aneurysm, ... |
OMIM:609008 |
Acromesomelic Dysplasia, Hunter-Thompson Type |
|
Short metacarpal, Brachydactyly, Bilateral single transverse palmar creases, Tarsal synostosis, C... |
ORPHA:968 |
Acromesomelic Dysplasia 3 |
|
Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st metacarpal, Widene... |
OMIM:609441 |
Angioosteohypotrophic Syndrome |
|
Hypoplasia of the ulna, Short humerus, Aplasia/hypoplasia involving bones of the upper limbs, Abn... |
ORPHA:75508 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia |
ORPHA:231393 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Metaphyseal dysplasia, Short metacarpal, Hypoplastic sacrum, Capitate-hamate fusion, Short metata... |
OMIM:271650 |
Brachydactyly-Syndactyly Syndrome |
|
Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,... |
OMIM:610713 |
Metaphyseal Anadysplasia |
|
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the lower limb, Aplasia/Hyp... |
ORPHA:1040 |
Acromicric Dysplasia |
|
Abnormal eyebrow morphology, Short metacarpal, Small hand, Abnormal femur morphology, Long eyelas... |
ORPHA:969 |
Welander Distal Myopathy |
|
Distal amyotrophy, Rimmed vacuoles |
OMIM:604454 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ... |
OMIM:612447 |
Hemoglobin H Disease |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
Aortic Valve Disease 2 |
|
Aortic regurgitation, Bicuspid aortic valve, Patent foramen ovale, Calcification of the aorta, Co... |
OMIM:614823 |
Alpha-1-Antitrypsin Deficiency |
|
Nephrotic syndrome, Emphysema, Hepatitis, Hepatomegaly |
ORPHA:60 |
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Impaired platelet aggregation, Macrothrombocytopenia |
OMIM:613112 |
Generalized Arterial Calcification Of Infancy |
|
Respiratory distress, Medial calcification of large arteries, Cerebral calcification, Adrenal cal... |
ORPHA:51608 |
Brachydactyly Type C |
|
Stippling of the epiphysis of the distal phalanx of the thumb, Short metatarsal, Symphalangism af... |
ORPHA:93384 |
Periventricular Nodular Heterotopia |
|
Aortic regurgitation, Abnormal bleeding, Abnormal heart valve morphology, Patent ductus arteriosu... |
ORPHA:98892 |
Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Neonatal death, Congenital diaphragmatic hernia |
OMIM:226735 |
Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Finger syndactyly, 2-5 finger cutaneous syndactyly, Toe syndactyly, Small hypothenar eminence, Ab... |
ORPHA:3246 |
Slc35A1-Cdg |
|
Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia |
ORPHA:238459 |
Pleural Mesothelioma |
|
Respiratory distress, Abnormal pleura morphology, Dyspnea, Abnormal thorax morphology, Abnormal l... |
ORPHA:50251 |
Familial Cerebral Saccular Aneurysm |
|
Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh... |
ORPHA:231160 |
Congenital Radioulnar Synostosis |
|
Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... |
ORPHA:3269 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Pes planus, Short metacarpal, Micromelia, Abnormal carpal morphology, Short metatarsal, Coxa vara... |
ORPHA:93351 |
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra... |
ORPHA:206549 |
Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Short metacarpal, Micrognathia, Recurrent patellar dislocation, Capitate-hamate fusion, Short toe... |
OMIM:614078 |
Arteriosclerosis, Severe Juvenile |
|
Myocardial infarction, Central retinal vessel vascular tortuosity, Calcification of the aorta, Ar... |
OMIM:208060 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Osteopenia, Thoracic scoliosis, Decreased muscle mass, Widened atrophic scar, Distal joint laxity... |
ORPHA:1900 |
Congenital Absence/Hypoplasia Of Fingers Excluding Thumb, Unilateral |
|
Short metacarpal, Short nail, Short thumb, Abnormal metacarpal morphology, Duplication of the dis... |
ORPHA:973 |
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication |
OMIM:188740 |
Fetal Encasement Syndrome |
|
Omphalocele, Bilateral trilobed lung, Tetralogy of Fallot, Congenital diaphragmatic hernia |
OMIM:613630 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Pneumonia, Hyperlordosis, Flexion contrac... |
OMIM:253700 |
Cardiomyopathy, Familial Hypertrophic, 21 |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Myofiber disarray, Mitral valve prolapse |
OMIM:614676 |
Brachydactyly-Nystagmus-Cerebellar Ataxia |
|
Short metacarpal, Short metatarsal, Brachydactyly |
OMIM:113400 |
Peripheral Dysostosis |
|
Short phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand |
OMIM:170700 |
Nephronophthisis-Like Nephropathy 2 |
|
Recurrent respiratory infections, Renal insufficiency, Polyuria, Bronchiectasis, Stage 5 chronic ... |
OMIM:619468 |
Mitral Valve Prolapse 1 |
|
Pectus excavatum, Reversed usual vertebral column curves, Mitral valve prolapse |
OMIM:157700 |
Acromegaloid Facial Appearance Syndrome |
|
Highly arched eyebrow, Micrognathia, Tapered finger, Synophrys, Large hands, Short 5th metacarpal |
OMIM:102150 |
Netherton Syndrome |
|
Recurrent respiratory infections, Sparse scalp hair, Skin rash, Eczema, Sparse eyelashes, Ectopic... |
ORPHA:634 |
Laubry-Pezzi Syndrome |
|
Aortic regurgitation, Aortic valve prolapse, Mildly reduced left ventricular ejection fraction, B... |
ORPHA:99094 |
Coloboma Of Macula-Brachydactyly Type B Syndrome |
|
Type B brachydactyly, Broad thumb, Camptodactyly of finger, Short distal phalanx of finger |
ORPHA:1471 |
Bleeding Disorder, Platelet-Type, 21 |
|
Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired platelet aggregation, Incre... |
OMIM:617443 |
Pseudoachondroplasia |
|
Genu recurvatum, Delayed epiphyseal ossification, Metaphyseal widening, Fragmented, irregular epi... |
OMIM:177170 |
Ruvalcaba Syndrome |
|
Short metacarpal, Inguinal hernia, Micromelia, Limited elbow extension, Small hand, Short metatar... |
OMIM:180870 |
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Brachydactyly, Single transverse palmar crease, Bifid distal phalanx of the thumb, Triangular sha... |
ORPHA:370010 |
Distal 7Q11.23 Microduplication Syndrome |
|
Patent ductus arteriosus, Congenital diaphragmatic hernia, Aortic aneurysm |
ORPHA:261102 |
Myh9-Related Disease |
|
Giant platelets, Neutrophil inclusion bodies, Congenital thrombocytopenia, Increased mean platele... |
ORPHA:182050 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 |
|
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Calf muscle hypertrophy, P... |
OMIM:601954 |
Mesomelic Dysplasia, Savarirayan Type |
|
Abnormal foot morphology, Talipes equinovalgus, Hip dislocation, Fibular aplasia, Mesomelia, Shor... |
OMIM:605274 |
Aneurysm Of Sinus Of Valsalva |
|
Aortic regurgitation, Edema, Congestive heart failure, Dyspnea, Heart murmur, Stroke, Bacterial e... |
ORPHA:1054 |
Congenital Diaphragmatic Hernia |
|
Respiratory distress, Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the diaphragm, Hypox... |
ORPHA:2140 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Lymphopenia, Aplasia of the thymus, Recurrent bronchopulmonary infections, Recurrent pneumonia, B... |
OMIM:242700 |
Holt-Oram Syndrome |
|
Abnormal clavicle morphology, Paroxysmal atrial fibrillation, First degree atrioventricular block... |
ORPHA:392 |
Immunodeficiency 89 And Autoimmunity |
|
Pulmonary bulla, Rheumatoid factor positive, Increased circulating IgA level, Antinuclear antibod... |
OMIM:619632 |
Fixed Subaortic Stenosis |
|
Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri... |
ORPHA:3092 |
Myelolymphatic Insufficiency |
|
Leukopenia, Hyposegmentation of neutrophil nuclei |
OMIM:310350 |
Multiple Epiphyseal Dysplasia Type 4 |
|
Micrognathia, Abnormal hand morphology, Metaphyseal widening, Flexion contracture, Short metatars... |
ORPHA:93307 |
Bernard-Soulier Syndrome |
|
Impaired ristocetin-induced platelet aggregation, Giant platelets, Macrothrombocytopenia, Thrombo... |
OMIM:231200 |
Postaxial Oligodactyly, Tetramelic |
|
Radial bowing, Aplasia of the 5th metacarpal, Single transverse palmar crease, Absent fifth metat... |
OMIM:176240 |
Congenital Tracheomalacia |
|
Apnea, Cardiomegaly, Tracheobronchomalacia, Cough, Atrial septal defect, Emphysema, Single ventri... |
ORPHA:95430 |
Holt-Oram Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Short humerus, Aplasia of the ulna, Absent thumb, Absent radi... |
OMIM:142900 |
Spinal Muscular Atrophy, Type Iv |
|
Spinal muscular atrophy, Quadriceps muscle atrophy, Angulated muscle fibers, Centrally nucleated ... |
OMIM:271150 |
Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
Coarctation Of Aorta |
|
Hypoplastic left heart, Coarctation of aorta |
OMIM:120000 |
Neutropenia, Severe Congenital, 7, Autosomal Recessive |
|
Neutropenia |
OMIM:617014 |
Brachydactyly, Type E2 |
|
Short metacarpal, Short metatarsal, Brachydactyly |
OMIM:613382 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery... |
OMIM:603902 |
Myopathy, Sarcoplasmic Body |
|
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Increased variability in mus... |
OMIM:620286 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Omphalocele, Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyl... |
ORPHA:3329 |
Wt Limb-Blood Syndrome |
|
Ulnar deviation of the 3rd finger, Absent thumb, Micrognathia, Short thumb, Radioulnar synostosis... |
OMIM:194350 |
Upper Limb Defect-Eye And Ear Abnormalities Syndrome |
|
Short thumb, Short metacarpal |
ORPHA:2489 |
Pierre Robin Sequence With Facial And Digital Anomalies |
|
Micrognathia, Tapered finger, Easily subluxated first metacarpophalangeal joints, Clinodactyly of... |
OMIM:311895 |
Endove Syndrome, Limb-Only Type |
|
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti... |
OMIM:619217 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Aplasia/Hypoplasia of the fibula, Micrognathia, Short ... |
ORPHA:2256 |
Hereditary Myopathy With Early Respiratory Failure |
|
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis muscle weakness, H... |
ORPHA:178464 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v... |
OMIM:187300 |
Mesomelic Dysplasia, Savarirayan Type |
|
Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Elbow dislocation, H... |
ORPHA:85170 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Hepatomegaly, Lymphocytosis |
OMIM:606445 |
C1Q Deficiency 2 |
|
Anti-Sm antibody positivity, Rheumatoid factor positive, Chilblains, Discoid lupus rash, Atelecta... |
OMIM:620321 |
Paternal Uniparental Disomy Of Chromosome X |
|
Cubitus valgus, Short metacarpal, Low posterior hairline |
ORPHA:261524 |
Immunodeficiency 50 |
|
Lymphopenia, Neutropenia |
OMIM:300988 |
Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... |
OMIM:133180 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Pes planus, Short metacarpal, Camptodactyly of finger, Tapered finger, Flat capital femoral epiph... |
OMIM:612350 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3 |
|
Muscle fiber inclusion bodies, Centrally nucleated skeletal muscle fibers, Proximal muscle weakne... |
OMIM:615424 |
Takayasu Arteritis |
|
Abnormal endocardium morphology, Increased inflammatory response, Hypertensive crisis, Abnormal h... |
ORPHA:3287 |
Fibular Hemimelia |
|
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... |
ORPHA:93323 |
Tubular Aggregate Myopathy |
|
Centrally nucleated skeletal muscle fibers, Muscle fiber tubular inclusions, Type 2 muscle fiber ... |
ORPHA:2593 |
Epidermodysplasia Verruciformis, Susceptibility To, 4 |
|
Emphysema |
OMIM:618307 |
Hypophosphatasia |
|
Bowing of the long bones, Recurrent fractures, Craniosynostosis, Abnormal rib morphology, Respira... |
ORPHA:436 |
Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Short metacarpal, Brachydactyly, Short toe, Split hand, Short tibia, Finger symphalangism, Contra... |
OMIM:612576 |
Synostoses, Tarsal, Carpal, And Digital |
|
Short metacarpal, Tarsal synostosis, Aplasia/Hypoplasia of the middle phalanges of the hand, Meta... |
OMIM:186400 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 |
|
Scapular winging, Autophagic vacuoles, Centrally nucleated skeletal muscle fibers, EMG: myopathic... |
OMIM:608423 |
Tricuspid Atresia |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Hypoplasia of right ventri... |
ORPHA:1209 |
Myopathy, Vacuolar, With Casq1 Aggregates |
|
Muscle fiber calsequestrin 1-containing inclusion bodies |
OMIM:616231 |
Multiple Synostoses Syndrome 1 |
|
Hypoplastic spinal processes, Single transverse palmar crease, Symphalangism affecting the phalan... |
OMIM:186500 |
Reticular Dysgenesis |
|
Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus |
OMIM:267500 |
Myopathy, Myofibrillar, 5 |
|
Myofibrillar myopathy, Muscle fiber cytoplasmatic inclusion bodies, Muscle fiber splitting |
OMIM:609524 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia |
ORPHA:46532 |
Inclusion Body Myopathy And Brain White Matter Abnormalities |
|
Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi... |
OMIM:619733 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
|
Short toe, Short finger, Clinodactyly of the 5th finger, Short 5th metacarpal, Brachydactyly |
OMIM:604381 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Rib segmentation abnormalities, Finger syndactyly, Inguinal hernia, Abnormal intervertebral disk ... |
ORPHA:2311 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Patent ductus arteriosus, Respiratory insufficiency, Coarctation of aorta, Bilateral lung agenesi... |
OMIM:601612 |
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome |
|
Aplasia/Hypoplasia of the thumb, Short humerus, Hypoplasia of the ulna, Radial club hand, Ulnar b... |
ORPHA:2878 |
Trichorhinophalangeal Syndrome, Type Iii |
|
Short metacarpal, Avascular necrosis of the capital femoral epiphysis, Short metatarsal, Short fo... |
OMIM:190351 |
Hernia, Anterior Diaphragmatic |
|
Neonatal death, Congenital diaphragmatic hernia |
OMIM:306950 |
Laurin-Sandrow Syndrome |
|
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B... |
OMIM:135750 |
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction |
|
Aplasia/Hypoplasia of the thumb, Single transverse palmar crease, Aplasia/Hypoplasia of the middl... |
OMIM:609432 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Hemolytic anemia, Increased mean platelet volume, Impaired ristocetin-induced platelet aggregatio... |
OMIM:153670 |
Fanconi Renotubular Syndrome 5 |
|
Proteinuria, Stage 5 chronic kidney disease, Aminoaciduria, Pulmonary fibrosis, Glycosuria, Decre... |
OMIM:618913 |
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 |
|
Abnormal muscle fiber morphology, Fatty replacement of skeletal muscle, Increased variability in ... |
ORPHA:34516 |
Arterial Tortuosity Syndrome |
|
Respiratory distress, Myocardial infarction, Coxa vara, Clinodactyly of the 5th finger, Femoral h... |
ORPHA:3342 |
Intellectual Developmental Disorder, Autosomal Recessive 47 |
|
Mitral valve prolapse |
OMIM:616193 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Respiratory distress, Multiple joint contractures, Metaphyseal widening, Pectus carin... |
ORPHA:536467 |
Congenital Heart Defects, Multiple Types, 4 |
|
Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Aortic valve stenosis, A... |
OMIM:615779 |
Mucus Inspissation Of Respiratory Tract |
|
Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr... |
OMIM:253240 |
Immunodeficiency 16 |
|
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia |
OMIM:615593 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
|
11 pairs of ribs, Absent forearm, Overlapping toe, Single transverse palmar crease, Micrognathia,... |
OMIM:201170 |
Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Weakness of facial musculature, Scapular winging, Shoulder girdle muscle weakness, Angulated musc... |
OMIM:619477 |
Mietens Syndrome |
|
Hypoplasia of the ulna, Talipes, Coxa valga, Metatarsus adductus, Avascular necrosis of the capit... |
ORPHA:2557 |
Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Pancytopenia, Decreased ... |
OMIM:619924 |
Marfan Syndrome |
|
Osteopenia, Skeletal muscle atrophy, Limited elbow movement, Pectus carinatum, Emphysema, Arachno... |
ORPHA:558 |
Distal Myopathy With Anterior Tibial Onset |
|
Absent muscle fiber dysferlin, Tibialis muscle weakness, Limb-girdle muscle weakness, Intrinsic h... |
ORPHA:178400 |
Oculopharyngodistal Myopathy 2 |
|
Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Weakness of... |
OMIM:618940 |
Ivic Syndrome |
|
Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Ab... |
OMIM:147750 |
Loeys-Dietz Syndrome 3 |
|
Tortuous cerebral arteries, Bicuspid aortic valve, Atrial septal defect, Abdominal aortic aneurys... |
OMIM:613795 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Apnea, Crazy paving pattern, Nodular pattern on pulmonary HRCT, Tachypnea, ... |
OMIM:610921 |
Chromosome 8Q22.1 Duplication Syndrome |
|
Hallux valgus, Short metacarpal, Enlarged interphalangeal joints, Genu recurvatum, Interphalangea... |
OMIM:151200 |
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii |
|
Short metatarsal, Type E brachydactyly, Short 4th metacarpal |
OMIM:113301 |
Malignant Atrophic Papulosis |
|
Gastrointestinal hemorrhage, Telangiectasia of the skin, Abnormal pericardium morphology, Myocard... |
ORPHA:679 |
Smith-Mccort Dysplasia 2 |
|
Pes planus, Short metacarpal, Enlarged interphalangeal joints, Broad femoral neck, Broad metatars... |
OMIM:615222 |
Orofaciodigital Syndrome Type 10 |
|
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Micrognathia, Shor... |
ORPHA:2756 |
Rigid Spine Syndrome |
|
Skeletal muscle atrophy, Hip contracture, Pneumonia, Cardiac conduction abnormality, Hyperlordosi... |
ORPHA:97244 |
Dental Anomalies And Short Stature |
|
Mitral valve prolapse, Platyspondyly, Herniation of intervertebral nuclei, Scoliosis, Narrow vert... |
OMIM:601216 |
Craniosynostosis, Adelaide Type |
|
Hallux valgus, Shortening of all middle phalanges of the fingers, Carpal bone malsegmentation, Co... |
OMIM:600593 |
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type |
|
Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, Enlarged metaphyses, Ir... |
OMIM:618728 |
Hereditary Arterial And Articular Multiple Calcification Syndrome |
|
Coronary artery calcification, Arterial tortuosity, Abnormal vascular morphology, Arterial occlus... |
ORPHA:289601 |
Scimitar Syndrome |
|
Respiratory distress, Heart block, Abnormal lung morphology, Pulmonary artery hypoplasia, Hypopla... |
ORPHA:185 |
Radial Hemimelia |
|
Abnormality of the trapezium, Abnormal thumb morphology, Aplasia of the 1st metacarpal, Aplasia/H... |
ORPHA:93321 |
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Clinodactyly of the 5th finger, Abnormal hand morphology, Short digit, Short 5th metacarpal |
ORPHA:228190 |
Inclusion Body Myositis |
|
Inflammatory myopathy, Rimmed vacuoles |
OMIM:147421 |
Acheiropodia |
|
Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e... |
ORPHA:931 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Short humerus, Short metacarpal, Rhizomelia, Coxa vara, Genu valgum, Deviation of finger, Deforme... |
ORPHA:2831 |
Immunodeficiency 53 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia |
OMIM:617585 |
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction |
|
Finger syndactyly, Toe syndactyly, Short hallux, Aplasia/Hypoplasia of the middle phalanges of th... |
ORPHA:157801 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia |
OMIM:206400 |
Metatropic Dysplasia |
|
Abnormal metaphyseal vascular invasion, Flexion contracture, Long coccyx, Halberd-shaped pelvis, ... |
OMIM:156530 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Hypoplasia of the ulna, Pes planus, Tapered finger, Hip dislocation, Knee dislocation, Delayed os... |
OMIM:618395 |
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia |
OMIM:124900 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... |
ORPHA:444463 |
Distal Myopathy, Welander Type |
|
Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Myopathy, Distal upper l... |
ORPHA:603 |
Odontochondrodysplasia 1 |
|
Short metacarpal, Brachydactyly, Genu recurvatum, Micromelia, Metaphyseal widening, Flat acetabul... |
OMIM:184260 |
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Metaphyseal dysplasia, Short middle phalanx of the 2nd finger, Flared metaphysis, Short middle ph... |
OMIM:156510 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... |
ORPHA:860 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Short metacarpal, Rhizomelia, Metaphyseal widening, Coxa vara, Tibial bowing, Femoral bowing, Nar... |
OMIM:608940 |
Microcephaly, Short Stature, And Limb Abnormalities |
|
11 pairs of ribs, Short metacarpal, Brachydactyly, Hypoplasia of the radius, Patellar aplasia, Pa... |
OMIM:617604 |
Myopathy, Distal, 7, Adult-Onset, X-Linked |
|
Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi... |
OMIM:301075 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
Scapular winging, Ankle flexion contracture, Limb-girdle muscle weakness, Flexion contracture, Ca... |
OMIM:608099 |
8p23.1 deletion syndrome |
|
Atrial septal defect, Atrioventricular canal defect, Congenital diaphragmatic hernia, Abnormal he... |
DECIPHER:39 |
Acrodysostosis |
|
Hypoplasia of the ulna, Short metacarpal, Abnormal morphology of the radius, Abnormal morphology ... |
ORPHA:950 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati... |
OMIM:616452 |
Homozygous Familial Hypercholesterolemia |
|
Precocious atherosclerosis, Myocardial infarction, Abnormal internal carotid artery morphology, A... |
ORPHA:391665 |
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome |
|
Hypoplasia of the ulna, Micrognathia, Synophrys, Clinodactyly, Hirsutism |
ORPHA:357175 |
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Brachydactyly, Broad hallux, Overlapping toe, Short hallux, Triangular shaped phalanges of the ha... |
OMIM:618167 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... |
OMIM:615285 |
Giant Cell Arteritis |
|
Pericarditis, Epistaxis, Sudden cardiac death, Abnormal pleura morphology, Cough, Recurrent phary... |
ORPHA:397 |
Cenani-Lenz Syndactyly Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Broad hallux, Micrognathia, Hypoplasia of the radius, Radioul... |
OMIM:212780 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory distress, Cardiomegaly, Abnormal internal carotid artery morphology, Flexion contract... |
ORPHA:365 |
Myopathy, Myofibrillar, 3 |
|
Myofibrillar myopathy, Achilles tendon contracture, Distal amyotrophy, Muscle fiber cytoplasmatic... |
OMIM:609200 |
Acromesomelic Dysplasia 1 |
|
Short metacarpal, Radial bowing, Short nail, Broad metatarsal, Short toe, Hypoplasia of the radiu... |
OMIM:602875 |
Symphalangism, Proximal, 1A |
|
Tarsal synostosis, Aplasia/Hypoplasia of the middle phalanges of the hand, Metacarpophalangeal sy... |
OMIM:185800 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
Medial calcification of large arteries, Premature occlusive vascular stenosis, Cerebral hemorrhag... |
OMIM:177850 |
Thrombocythemia 1 |
|
Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre... |
OMIM:187950 |
Epiphyseal Dysplasia, Baumann Type |
|
Carpal bone aplasia, Epiphyseal dysplasia, Pes planus, Hypoplasia of the femoral head, Long finge... |
OMIM:610797 |
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion |
|
Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, C... |
OMIM:617760 |
Oculopharyngeal Muscular Dystrophy |
|
Myopathy, Rimmed vacuoles, Ragged-red muscle fibers, Abnormal muscle fiber morphology |
ORPHA:270 |
Ciliary Dyskinesia, Primary, 39 |
|
Decreased nasal nitric oxide, Double outlet right ventricle, Bronchiectasis, Cough, Recurrent oti... |
OMIM:618254 |
Myasthenic Syndrome, Congenital, 17 |
|
Type 1 muscle fiber predominance |
OMIM:616304 |
Myofibrillar Myopathy 11 |
|
Centrally nucleated skeletal muscle fibers, Z-band streaming, Coarctation of aorta, Calf muscle h... |
OMIM:619178 |
Ciliary Dyskinesia, Primary, 29 |
|
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili... |
OMIM:615872 |
Common Variable Immunodeficiency |
|
Recurrent respiratory infections, Hemolytic anemia, Pneumonia, Autoimmune thrombocytopenia, Splen... |
ORPHA:1572 |
Ciliary Dyskinesia, Primary, 21 |
|
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Decreased nasal nitric oxide, Br... |
OMIM:615294 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Tricuspid regurgitation, Myocardial infarction, Coronary artery calcification, Cardiomegaly, Cong... |
OMIM:614473 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Ventricular hypertrophy, Sandal gap, Congenital diaphragmatic hernia, Atrial septal defect, Pulmo... |
OMIM:300887 |
Immunodeficiency 59 And Hypoglycemia |
|
Recurrent skin infections, Herpes simplex encephalitis, Recurrent upper respiratory tract infecti... |
OMIM:233600 |
Microphthalmia, Syndromic 12 |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Hypoplastic left atrium, Pulmonary hy... |
OMIM:615524 |
Reticuloendotheliosis, X-Linked |
|
Hepatosplenomegaly, Jaundice, Anemia, Lymphadenopathy |
OMIM:312500 |
Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Pneumonia, Reduced forced expiratory volume in one second, Respiratory tract infection, Dyspnea, ... |
ORPHA:1303 |
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome |
|
Abnormal heart valve morphology, Pulmonic stenosis, Mitral valve prolapse |
ORPHA:2868 |
Specific Granule Deficiency 1 |
|
Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ... |
OMIM:245480 |
Tibial Muscular Dystrophy, Tardive |
|
EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles |
OMIM:600334 |
Igg4-Related Aortitis |
|
Thoracic aortic aneurysm, Asthma, Abnormal aortic arch morphology, Ascending tubular aorta aneury... |
ORPHA:449400 |
Cyclic Neutropenia |
|
Cyclic neutropenia |
OMIM:162800 |
Syndactyly, Type V |
|
Brachydactyly, Camptodactyly of finger, 4-5 toe syndactyly, 4-5 metacarpal synostosis, Enlarged p... |
OMIM:186300 |
Immunodeficiency 104 |
|
Hepatomegaly, Pneumonia, Eczema, Splenomegaly, Chronic mucocutaneous candidiasis, T lymphocytopen... |
OMIM:608971 |
Cap Myopathy |
|
Thoracic scoliosis, Reduced systolic function, Central hypoventilation, Facial palsy, Abnormal mu... |
ORPHA:171881 |
Hypoplastic Left Heart Syndrome 1 |
|
Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta |
OMIM:241550 |
Intellectual Developmental Disorder, Autosomal Recessive 35 |
|
Hypoplasia of the ulna, Micrognathia, Synophrys, Clinodactyly, Hirsutism |
OMIM:615162 |
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl... |
OMIM:113310 |
Mitochondrial Myopathy With Diabetes |
|
Facial palsy, Ragged-red muscle fibers, Limb muscle weakness, Proximal amyotrophy, Weakness of or... |
OMIM:500002 |
De Barsy Syndrome |
|
Osteopenia, Recurrent sinopulmonary infections, Decreased muscle mass, Inguinal hernia, Ventricul... |
ORPHA:2962 |
Neuronal Intestinal Pseudoobstruction |
|
Patent ductus arteriosus, Abnormal cardiac septum morphology, Congenital diaphragmatic hernia |
ORPHA:99811 |
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph... |
ORPHA:217563 |
Arterial Tortuosity Syndrome |
|
Carotid artery dissection, Congenital diaphragmatic hernia, Flexion contracture, Pectus carinatum... |
OMIM:208050 |
Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... |
OMIM:612690 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Autoimmune hemolytic anemia, Al... |
OMIM:615559 |
Diamond-Blackfan Anemia 11 |
|
Hypoplasia of the ulna, Absent thumb, Unilateral radial aplasia, Hypoplasia of the radius, Hand o... |
OMIM:614900 |
Mitral Valve Prolapse 3 |
|
Mitral valve prolapse |
OMIM:610840 |
Mitral Valve Prolapse 2 |
|
Mitral valve prolapse |
OMIM:607829 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... |
ORPHA:174 |
Orofaciodigital Syndrome Viii |
|
Syndactyly, Short tibia, Polydactyly |
OMIM:300484 |
Neonatal Marfan Syndrome |
|
Long toe, Neonatal respiratory distress, Tricuspid regurgitation, Lipoatrophy, Arachnodactyly, Lo... |
ORPHA:284979 |
Symbrachydactyly Of Hands And Feet |
|
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Abnormality of the humerus, Aplasia... |
ORPHA:1570 |
Hypoplastic Left Heart Syndrome |
|
Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic left heart, Atrial... |
ORPHA:2248 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Short metatarsal, Cone-shaped... |
OMIM:617102 |
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness |
|
Epiphyseal dysplasia, Coxa valga, Genu valgum, Short phalanx of finger, Brachydactyly |
OMIM:132450 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
Macs Syndrome |
|
Joint laxity, Prolonged bleeding time, Brachydactyly, Dilation of Virchow-Robin spaces, Palpebral... |
OMIM:613075 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Autoimmune hemolytic anemia, Antiphospholipid antibody positivity, Rheumatoid factor positive, Eo... |
OMIM:603909 |
Trimethylaminuria |
|
Splenomegaly, Anemia, Neutropenia |
OMIM:602079 |
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
|
Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Rhizomelia, Micrognathia, Flared met... |
OMIM:602471 |
Pulmonary Venoocclusive Disease 1, Autosomal Dominant |
|
Pulmonary venous occlusion, Abnormally loud pulmonic component of the second heart sound, Interlo... |
OMIM:265450 |
Immunodeficiency 24 |
|
Decreased circulating IgG level, Lymphopenia, Decreased CD4:CD8 ratio, Reduced proportion of muco... |
OMIM:615897 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Lymphopenia, Hypoplasia of the thymus |
OMIM:200900 |
Aorto-Ventricular Tunnel |
|
Ventricular hypertrophy, Abnormal coronary artery morphology, Abnormal heart valve morphology, Ao... |
ORPHA:3400 |
Tibial Hemimelia |
|
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased... |
ORPHA:93322 |
Bleeding Disorder, Platelet-Type, 19 |
|
Thrombocytopenia, Macrothrombocytopenia, Anemia |
OMIM:616176 |
Cooper-Jabs Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia, Missing ribs... |
ORPHA:1488 |
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Distal amyotrophy, Fiber type grouping |
OMIM:614369 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... |
OMIM:619466 |
Leri Pleonosteosis |
|
Camptodactyly of finger, Abnormal finger morphology, Lack of skin elasticity, Abnormal form of th... |
ORPHA:2900 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... |
OMIM:202700 |
Craniosynostosis-Mental Retardation-Clefting Syndrome |
|
Forearm undergrowth, Lower limb undergrowth |
OMIM:218650 |
Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant |
|
Scapular winging, Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle weakness, Mu... |
OMIM:601846 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Hallux valgus, Spontaneous, recurrent epistaxis, Mitral valve calcification, Pectus excavatum, Ao... |
ORPHA:2072 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Ventricular septal defect, Repeated pneumothoraces, Congenital diaphragmatic hernia, Arachnodacty... |
OMIM:617602 |
Cardiac Diverticulum |
|
Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec... |
ORPHA:1686 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii |
|
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Achilles tendon contractur... |
OMIM:620068 |
Summitt Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Genu valgum, Short palm, Clinodactyly of the 5th fing... |
ORPHA:3210 |
Coloboma Of Macula With Type B Brachydactyly |
|
Type B brachydactyly, Broad distal phalanx of the thumb, Absent distal phalanges, Bifid distal ph... |
OMIM:120400 |
Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo... |
OMIM:119100 |
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
Myopathy, Isolated Mitochondrial, Autosomal Dominant |
|
Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, Facial palsy |
OMIM:616209 |
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia |
|
Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, I... |
OMIM:117000 |
Aphalangy-Syndactyly-Microcephaly Syndrome |
|
Toe syndactyly, Camptodactyly of finger, Aplasia/Hypoplasia of the distal phalanges of the toes, ... |
ORPHA:1113 |
Brachydactyly, Type E1 |
|
Short metacarpal, Short metatarsal, Short clavicles, Type E brachydactyly, Brachydactyly |
OMIM:113300 |
Myopathy, Autophagic Vacuolar, Infantile-Onset |
|
Myopathy, Autophagic vacuoles |
OMIM:609500 |
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries |
|
Central core regions in muscle fibers, Muscular dystrophy |
OMIM:159050 |
Anemia, Sideroblastic, 5 |
|
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
Ring Chromosome 4 Syndrome |
|
Aplasia/Hypoplasia of the radius, Split hand, Abnormality of the upper limb, Abnormal morphology ... |
ORPHA:1447 |
Felty Syndrome |
|
Splenomegaly, Neutropenia |
OMIM:134750 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Ventricular hypertrophy, Mitral valve calcification, Congestive heart failure, Emphysema, Intracr... |
ORPHA:363618 |
Ritscher-Schinzel Syndrome 3 |
|
Hypoplasia of the ulna, Highly arched eyebrow, Micrognathia, Ulnar bowing, Shortening of all dist... |
OMIM:619135 |
Müllerian Duct Anomalies-Limb Anomalies Syndrome |
|
Short humerus, Micromelia, Postaxial hand polydactyly, Split hand, Abnormality of the elbow, Apla... |
ORPHA:2491 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Stiff neck, Abnormal left ventricular function, Conjunctivitis, Cholecystiti... |
ORPHA:99827 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Atelectasis, Chronic sinusitis, Recurrent bronchitis |
OMIM:300455 |
Acromesomelic Dysplasia 4 |
|
Synophrys, Short metatarsal, Short phalanx of finger, Generalized hirsutism, Genu varum, Short me... |
OMIM:619636 |
Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Proximal placement of thumb, Absent thumb, Micrognathia, Hypoplasia of the radius, Hand oligodact... |
OMIM:602418 |
Temtamy Syndrome |
|
Brachydactyly, Short toe, Aortic aneurysm, Joint hyperflexibility, Clinodactyly of the 5th finger... |
ORPHA:1777 |
Rin2 Syndrome |
|
Brachydactyly, Upper eyelid edema, Increased susceptibility to fractures, Abnormal sternum morpho... |
ORPHA:217335 |
Classical-Like Ehlers-Danlos Syndrome Type 1 |
|
Spina bifida occulta, Stroke, Precocious atherosclerosis, Mitral valve prolapse |
ORPHA:230839 |
Shox-Related Short Stature |
|
Micrognathia, Madelung deformity, Tibial bowing, Short foot, Genu valgum, Forearm undergrowth, Lo... |
ORPHA:314795 |
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
|
Proximal muscle weakness in upper limbs, Ragged-red muscle fibers, Proximal muscle weakness in lo... |
ORPHA:457050 |
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Autophagic vacuoles, Facial hypotonia, Fatty replacement of skeletal muscle, Shoulder girdle musc... |
ORPHA:266 |
Rhabdomyolysis, Susceptibility To, 1 |
|
Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter, Rhabdomyolysis,... |
OMIM:620235 |
Hereditary Continuous Muscle Fiber Activity |
|
Congenital diaphragmatic hernia, Type 1 muscle fiber predominance |
ORPHA:972 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Highly arched eyebrow, Synophr... |
OMIM:605282 |
Langer Mesomelic Dysplasia |
|
Bowing of the long bones, Abnormal morphology of ulna, Micromelia, Aplasia/Hypoplasia of the fibu... |
ORPHA:2632 |
Radial Hypoplasia, Triphalangeal Thumbs, Hypospadias, And Maxillary Diastema |
|
Hypoplasia of the radius, Nonopposable triphalangeal thumb |
OMIM:179250 |
Listeriosis |
|
Back pain, Respiratory distress, Pericarditis, Osteomyelitis, Stiff neck, Pneumonia, Pustule, Con... |
ORPHA:533 |
Asbestos Intoxication |
|
Edema, Reduced forced vital capacity, Nonproductive cough, Decreased DLCO, Oxygen desaturation on... |
ORPHA:2302 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Tachycardia, Crazy pavi... |
ORPHA:264675 |
Immunodeficiency 84 |
|
Perianal abscess, Splenomegaly, B lymphocytopenia |
OMIM:619437 |
Postaxial Acrofacial Dysostosis |
|
Hypoplasia of the ulna, Finger syndactyly, Camptodactyly of finger, Supernumerary nipple, Microgn... |
ORPHA:246 |
Satoyoshi Syndrome |
|
Pes planus, Short metacarpal, Alopecia, Short metatarsal, Osteolytic defects of the phalanges of ... |
OMIM:600705 |
Congenital Heart Defects, Multiple Types, 9 |
|
Aortopulmonary collateral arteries, Mitral atresia, Pectus excavatum, Arteria lusoria, Double out... |
OMIM:620294 |
Craniofaciofrontodigital Syndrome |
|
Osteopenia, Respiratory distress, Bicuspid aortic valve, Abnormal cerebral vascular morphology, E... |
ORPHA:363705 |
Costello Syndrome |
|
Thickened Achilles tendon, Ventricular septal defect, Redundant skin, Abnormal dental enamel morp... |
ORPHA:3071 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Inguinal hernia, Arachnodactyly, Congenital diaphragmatic hernia, Arterial tortuosity, Pectus exc... |
OMIM:614437 |
Noonan Syndrome 10 |
|
Mitral stenosis, Ventricular septal defect, Short neck, Pectus excavatum, Patent ductus arteriosu... |
OMIM:616564 |
Anonychia-Ectrodactyly |
|
Split hand, Aplasia of metacarpal bones |
OMIM:106900 |
Hyperbilirubinemia, Shunt, Primary |
|
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... |
OMIM:237800 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Osteopenia, Posterolateral diaphragmatic hernia, Inguinal hernia, Joint laxity, Sandal gap, Morga... |
OMIM:613177 |
Syndactyly, Type Iv |
|
1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me... |
OMIM:186200 |
W Syndrome |
|
Hypoplasia of the ulna, Pes planus, Radial bowing, Metatarsus adductus, Elbow dislocation, Abnorm... |
ORPHA:2804 |
8P23.1 Microdeletion Syndrome |
|
Broad hallux phalanx, Congenital diaphragmatic hernia, Short neck, Proximal placement of thumb, T... |
ORPHA:251071 |
Ciliary Dyskinesia, Primary, 33 |
|
Atelectasis, Recurrent pneumonia, Bronchiectasis, Ciliary dyskinesia, Chronic rhinitis, Cough, Re... |
OMIM:616726 |
Cenani-Lenz Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Abnormal dental enamel morphology, Mic... |
ORPHA:3258 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
Pneumonia, Recurrent upper respiratory tract infections, Atopic dermatitis, T lymphocytopenia, Na... |
OMIM:618806 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Hand monoda... |
OMIM:609945 |
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Shortening of all metacarpals, Shortening of all phalanges of fingers, Bilateral talipes equinova... |
OMIM:601356 |
Moyamoya Disease 5 |
|
Ascending tubular aorta aneurysm, Moyamoya phenomenon |
OMIM:614042 |
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset |
|
Hip contracture, Elbow contracture, Ankle contracture, Limb-girdle muscle weakness, Rhabdomyolysi... |
OMIM:620386 |
Ciliary Dyskinesia, Primary, 44 |
|
Neonatal respiratory distress, Reduced forced expiratory volume in one second, Reduced forced vit... |
OMIM:618781 |
Atrial Septal Defect 4 |
|
Atrial septal defect, Patent foramen ovale, Coarctation of aorta |
OMIM:611363 |
Keutel Syndrome |
|
Sinusitis, Cerebral calcification, Tracheal calcification, Pulmonary artery hypoplasia, Emphysema... |
OMIM:245150 |
Myopathy, Scapulohumeroperoneal |
|
Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Facial palsy, Centrally nucleated... |
OMIM:616852 |
Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Neonatal respiratory distress, Edema, Dyspnea, Atelectasis, Tachypnea, Pulm... |
OMIM:267450 |
Otopalatodigital Syndrome, Type I |
|
Abnormality of the fifth metatarsal bone, Absent frontal sinuses, Femoral bowing, Broad distal ph... |
OMIM:311300 |
Multiple Epiphyseal Dysplasia Type 1 |
|
Brachydactyly, Abnormal acetabulum morphology, Avascular necrosis of the capital femoral epiphysi... |
ORPHA:93308 |
Metatropic Dysplasia |
|
Abnormal intervertebral disk morphology, Camptodactyly of finger, Abnormal enchondral ossificatio... |
ORPHA:2635 |
Ellis Van Creveld Syndrome |
|
Abnormal hair quantity, Hydroureter, Hypospadias, Ventricular septal defect, Dextrocardia, Abnorm... |
ORPHA:289 |
Aortic Aneurysm, Familial Thoracic 10 |
|
Aortic arch aneurysm, Joint laxity, Thoracic aortic aneurysm, Bicuspid aortic valve, Pectus excav... |
OMIM:617168 |
Young Syndrome |
|
Recurrent sinopulmonary infections, Congenital pulmonary airway malformation, Bronchiectasis, Rec... |
OMIM:279000 |
Marfan Syndrome |
|
Decreased muscle mass, Bicuspid aortic valve, Equinus calcaneus, Incisional hernia, Flexion contr... |
OMIM:154700 |
Loeys-Dietz Syndrome 2 |
|
Bicuspid aortic valve, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve, Pectus carin... |
OMIM:610168 |
Immunodeficiency 76 |
|
Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia |
OMIM:619164 |
Cardiac Valvular Dysplasia 2 |
|
Aortic regurgitation, Increased left ventricular end-diastolic volume, Tricuspid regurgitation, B... |
OMIM:620067 |
Pseudopseudohypoparathyroidism |
|
Short distal phalanx of the 3rd finger, Short metatarsal, Short 5th finger, Short distal phalanx ... |
ORPHA:79445 |
Idiopathic Achalasia |
|
Wheezing, Recurrent aspiration pneumonia, Bronchitis, Cough |
ORPHA:930 |
Brachydactyly Type B2 |
|
Type B brachydactyly, Finger syndactyly, Short toe, Symphalangism affecting the phalanges of the ... |
ORPHA:140908 |
Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Dyspnea, Aplasia/Hypoplasia of fingers, Upper airway obstruction, Aspiratio... |
ORPHA:141152 |
Congenital Contractural Arachnodactyly |
|
Congenital kyphoscoliosis, Mitral valve prolapse, Scoliosis, Aortic aneurysm |
ORPHA:115 |
Pulmonary Atresia-Intact Ventricular Septum Syndrome |
|
Pulmonary artery atresia, Patent ductus arteriosus, Abnormal tricuspid valve morphology |
ORPHA:1208 |
Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolap... |
OMIM:612561 |
Brachyolmia Type 1, Hobaek Type |
|
Osteopenia, Back pain, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiph... |
OMIM:271530 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Cryptorchidism, Anemia, Premature graying of hair, Pulmonary fibrosis, Nail dystrophy, Emphysema,... |
OMIM:620365 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Short metacarpal, Short metatarsal, Advanced ossification of carpal bones, Cone-shaped epiphysis,... |
OMIM:614613 |
Craniofrontonasal Dysplasia |
|
Abnormal clavicle morphology, Finger syndactyly, Broad hallux phalanx, Sandal gap, Down-sloping s... |
ORPHA:1520 |
Aortic Aneurysm, Familial Abdominal, 1 |
|
Abdominal aortic aneurysm |
OMIM:100070 |
Meier-Gorlin Syndrome 1 |
|
Respiratory distress, Micrognathia, Lateral clavicle hook, Hypoplasia of the maxilla, Flexion con... |
OMIM:224690 |
Brachydactyly, Type B2 |
|
Tarsal synostosis, Proximal placement of thumb, Aplasia/Hypoplasia of the distal phalanges of the... |
OMIM:611377 |
Myopathy, Distal, Tateyama Type |
|
Hand muscle weakness, Centrally nucleated skeletal muscle fibers, Intrinsic hand muscle atrophy, ... |
OMIM:614321 |
Pelger-Huet Anomaly |
|
Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutropenia, ... |
OMIM:169400 |
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome |
|
Mitral valve prolapse, Short neck |
ORPHA:2233 |
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Epistaxis, Cerebral arteriovenous malformation, Pulmonary arteriovenous malformation, Mitral valv... |
OMIM:175050 |
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch |
|
Aplasia/Hypoplasia of the middle phalanges of the hand, Absent trapezium, Cone-shaped epiphyses o... |
OMIM:606895 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Aplasia/Hypoplasia of the thumb, Short humerus, Absent radius, Elbow dislocation, Ulnar bowing, S... |
OMIM:171480 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Aortic arch aneurysm, Thoracic aortic aneurysm, Brachiocephalic artery aneurysm, Patent ductus ar... |
OMIM:613834 |
Cardiac Valvular Dysplasia 1 |
|
Atrial septal defect, Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, Val... |
OMIM:212093 |
Vexas Syndrome |
|
Inflammatory abnormality of the skin, Neutrophilic infiltration of the skin, Chondritis of pinna,... |
OMIM:301054 |
Contractural Arachnodactyly, Congenital |
|
Congenital kyphoscoliosis, Bicuspid aortic valve, Ventricular septal defect, Kyphoscoliosis, Shor... |
OMIM:121050 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis |
OMIM:247800 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Increased circulating IgE level, Hepatosplenomegaly, Increased proportion of memory T cells, Incr... |
OMIM:618982 |
Odontochondrodysplasia |
|
Respiratory distress, Bowing of the long bones, Coxa valga, Patent ductus arteriosus, Cone-shaped... |
ORPHA:166272 |
Osteogenesis Imperfecta |
|
Osteopenia, Cervical kyphosis, Osteoarthritis, Flexion contracture, Abnormal tibia morphology, Ab... |
ORPHA:666 |
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Short metacarpal, Single interphalangeal crease of fifth finger, Curly eyelashes, Hypoplastic ili... |
OMIM:611717 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
|
Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Facial palsy, Centrally nucleated sk... |
OMIM:254110 |
Fragile X Syndrome |
|
Pectus excavatum, Scoliosis, Mitral valve prolapse |
OMIM:300624 |
Femur-Fibula-Ulna Complex |
|
Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Split hand, Humeroradi... |
ORPHA:2019 |
Fibular Aplasia-Ectrodactyly Syndrome |
|
Split hand, Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula |
ORPHA:1118 |
Immunodeficiency 52 |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... |
OMIM:617514 |
Familial Bicuspid Aortic Valve |
|
Aortic arch aneurysm, Aortic regurgitation, Bicuspid aortic valve, Aortic valve calcification, He... |
ORPHA:402075 |
Pulmonary Venoocclusive Disease 2, Autosomal Recessive |
|
Pulmonary venous occlusion, Dyspnea, Pulmonary capillary hemangiomatosis, Cough, Decreased DLCO, ... |
OMIM:234810 |
Robin Sequence-Oligodactyly Syndrome |
|
Abnormal morphology of ulna, Micrognathia, Hand oligodactyly, Abnormal metacarpal morphology, Cli... |
ORPHA:3104 |
Gaucher Disease, Type Iiic |
|
Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Calcification of the aorta,... |
OMIM:231005 |
Heart-Hand Syndrome, Spanish Type |
|
Ulnar deviation of the 2nd finger, Short middle phalanx of finger, Brachydactyly |
OMIM:140450 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal widening, Preaxial ... |
OMIM:613091 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad femoral neck, Distal tibial bowing, Metaphyseal chondrodysplasia, Metaphyseal widening, Met... |
OMIM:156500 |
Scheuermann Disease |
|
Kyphosis, Morbus Scheuermann |
OMIM:181440 |
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly |
OMIM:228250 |
Cocaine Intoxication |
|
Respiratory distress, Prolonged QRS complex, Myocardial infarction, Tachypnea, Cough, Hyperventil... |
ORPHA:90068 |
Myopathy, Centronuclear, 1 |
|
Proximal muscle weakness in upper limbs, Facial palsy, Centrally nucleated skeletal muscle fibers... |
OMIM:160150 |
Tibial Muscular Dystrophy |
|
Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ... |
ORPHA:609 |
Storage Pool Platelet Disease |
|
Decreased mean platelet volume, Acute leukemia |
OMIM:185050 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small... |
ORPHA:93356 |
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
Camptodactyly of finger, Aplasia/Hypoplasia of the distal phalanges of the toes, Tapered finger, ... |
ORPHA:3201 |
Pauci-Immune Glomerulonephritis |
|
Purpura, Glomerulonephritis, Dyspnea, Crescentic glomerulonephritis, Scleritis, Tubulointerstitia... |
ORPHA:93126 |
Diaphragmatic Hernia, Congenital |
|
Congenital diaphragmatic hernia |
OMIM:142340 |
Thalidomide Embryopathy |
|
Aplasia/Hypoplasia of the thumb, Aplasia/hypoplasia of the humerus, Preaxial hand polydactyly, Ra... |
ORPHA:3312 |
Diaphragmatic Hernia 3 |
|
Congenital diaphragmatic hernia |
OMIM:610187 |
Congenital Myopathy 10A, Severe Variant |
|
Respiratory distress, Facial palsy, Camptodactyly of finger, Pectus excavatum, Increased variabil... |
OMIM:614399 |
Stuve-Wiedemann Syndrome 2 |
|
Respiratory distress, Bowing of the long bones, Eczema, Congestive heart failure, Short long bone... |
OMIM:619751 |
Aicardi-Goutières Syndrome |
|
Myositis, Multiple joint contractures, Lipoatrophy, Chilblains, Cerebral calcification, Cardiomeg... |
ORPHA:51 |
Autosomal Recessive Cutis Laxa Type 1 |
|
Joint laxity, Peripheral pulmonary artery stenosis, Abnormal cardiac ventricular function, Inguin... |
ORPHA:90349 |
Radial Ray Hypoplasia With Choanal Atresia |
|
Short thumb, Distally placed thumb, Hypoplasia of the radius, Small thenar eminence |
OMIM:179270 |
Atelosteogenesis Type Ii |
|
Micromelia, Micrognathia, Short phalanx of finger, Broad metacarpals, Hypoplastic cervical verteb... |
ORPHA:56304 |
X-Linked Immunoneurologic Disorder |
|
Recurrent respiratory infections, Abnormal pleura morphology, Functional abnormality of the bladd... |
ORPHA:2571 |
Ferguson-Bonni Neurodevelopmental Syndrome |
|
Pectus excavatum, Congenital diaphragmatic hernia, Patent foramen ovale, Coronary-pulmonary arter... |
OMIM:619699 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Mitral valve prolapse, Short neck |
ORPHA:2183 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Proximal placement of thumb, Micrognathia, Clinodactyly of the 5th finger, Short tibia, Short pha... |
OMIM:268305 |
Ciliary Dyskinesia, Primary, 9 |
|
Neonatal respiratory distress, Pneumonia, Bronchiectasis, Decreased nasal nitric oxide, Recurrent... |
OMIM:612444 |
Boudin-Mortier Syndrome |
|
Pectus excavatum, Aortic root aneurysm, Mitral valve prolapse |
OMIM:619543 |
Trichorhinophalangeal Syndrome Type 1 |
|
Short metacarpal, Sparse eyelashes, Camptodactyly of finger, Micrognathia, Avascular necrosis of ... |
ORPHA:77258 |
Nemaline Myopathy 6 |
|
Skeletal muscle atrophy, Limb muscle weakness, Nemaline bodies, Myopathy |
OMIM:609273 |
Autosomal Dominant Cutis Laxa |
|
Osteopenia, Aortic regurgitation, Inguinal hernia, Joint laxity, Congestive heart failure, Dilata... |
ORPHA:90348 |
Immunodeficiency 48 |
|
Recurrent respiratory infections, Hepatomegaly, Pneumonia, Absence of CD8-positive T cells, Splen... |
OMIM:269840 |
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome |
|
Hypoplasia of the radius, Nonopposable triphalangeal thumb, Micromelia |
ORPHA:2252 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Osteopenia, Bicuspid aortic valve, Congenital diaphragmatic hernia, Short neck, Cardiomegaly, Pec... |
OMIM:245600 |
Spinal Muscular Atrophy, Infantile, James Type |
|
Hip contracture, Distal amyotrophy, Type 1 muscle fiber predominance, Increased variability in mu... |
OMIM:619042 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
|
Scapular winging, Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscl... |
OMIM:618129 |
Ehlers-Danlos Syndrome, Hypermobility Type |
|
Mitral valve prolapse |
OMIM:130020 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
Fragile X Syndrome |
|
Ascending tubular aorta aneurysm, Mitral valve prolapse |
ORPHA:908 |
Brachydactyly-Elbow Wrist Dysplasia Syndrome |
|
Brachydactyly, Abnormal distal phalanx morphology of finger, Abnormal morphology of ulna, Abnorma... |
ORPHA:1275 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic... |
ORPHA:67044 |
Leptin Deficiency Or Dysfunction |
|
Hypogonadism, Polyphagia, Decreased serum leptin, Obesity |
OMIM:614962 |
Sea-Blue Histiocyte Disease |
|
Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis |
OMIM:269600 |
Anauxetic Dysplasia 3 |
|
Sparse scalp hair, Short metacarpal, Broad eyebrow, Hip subluxation, Squared iliac bones, High an... |
OMIM:618853 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Hepatomegaly, Microcephaly, Hyperlordosis, Right ventricular dilatation, Myopathy, Restrictive ve... |
ORPHA:369840 |
Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Pes planus, Rhizomelia, Femoral bowing, Short 4th metacarpal, Broad thumb, Short 5th metacarpal |
OMIM:619638 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Delayed epiphyseal ossification, F... |
ORPHA:166016 |
Angel-Shaped Phalango-Epiphyseal Dysplasia |
|
Hip dysplasia, Short middle phalanx of finger, Abnormal epiphysis morphology, Short middle phalan... |
ORPHA:63442 |
Mosaic Trisomy 1 |
|
Thoracic scoliosis, Polyhydramnios, Congenital diaphragmatic hernia, Finger clinodactyly, Pulmona... |
ORPHA:1692 |
Lymphangioleiomyomatosis |
|
Recurrent respiratory infections, Abnormal urinary color, Renal neoplasm, Atelectasis, Dyspnea, P... |
ORPHA:538 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Omphalocele, Polyhydramnios, Short neck, Congenital diaphragmatic hernia, Metaphyseal widening, F... |
OMIM:263210 |
Fibular Aplasia-Complex Brachydactyly Syndrome |
|
Abnormal morphology of the radius, Brachydactyly, Bilateral single transverse palmar creases, Tar... |
ORPHA:2639 |
Tarsal-Carpal Coalition Syndrome |
|
Tarsal synostosis, Cubitus valgus, Humeroradial synostosis, Progressive fusion 2nd-5th pip joints... |
OMIM:186570 |
Congenital Aortic Valve Stenosis |
|
Angina pectoris, Thoracic aortic aneurysm, Sudden cardiac death, Aortic valve calcification, Aort... |
ORPHA:3093 |
Cutis Laxa, Autosomal Recessive, Type Iib |
|
Bowing of the long bones, Decreased muscle mass, Congenital hip dislocation, Redundant skin, Micr... |
OMIM:612940 |
Intellectual Developmental Disorder, X-Linked 82 |
|
Kyphosis, Scoliosis |
OMIM:300518 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo... |
OMIM:619041 |
Nocardiosis |
|
Respiratory distress, Liver abscess, Lymphadenitis, Nonproductive cough, Conjunctivitis, Emphysem... |
ORPHA:31204 |
Thrombocytopenia 3 |
|
Thrombocytopenia, Decreased mean platelet volume |
OMIM:273900 |
Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Hamstring contractures, S... |
OMIM:300696 |
Chst3-Related Skeletal Dysplasia |
|
Short metacarpal, Rhizomelia, Highly arched eyebrow, Sparse eyebrow, Abnormality of the elbow, Fl... |
ORPHA:263463 |
Singleton-Merten Syndrome 1 |
|
Osteopenia, Hypoplastic distal radial epiphyses, Cardiomegaly, Muscle fiber atrophy, Expanded met... |
OMIM:182250 |
Cardiac Valvular Dysplasia, X-Linked |
|
Bicuspid aortic valve, Short chordae tendineae of the tricuspid valve, Short chordae tendineae of... |
OMIM:314400 |
Ectrodactyly-Polydactyly Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Postaxial hand polydactyly, Symphalangism affecting t... |
ORPHA:1892 |
Immunodeficiency 69 |
|
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia |
OMIM:618963 |
Aneurysm-Osteoarthritis Syndrome |
|
Aortic regurgitation, Atrial fibrillation, Arterial dissection, Arterial tortuosity, Patent ductu... |
ORPHA:284984 |
Myasthenic Syndrome, Congenital, 2A, Slow-Channel |
|
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Knee flexion contracture, Myopathy, T... |
OMIM:616313 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Hepatomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia... |
OMIM:614470 |
Tricho-Retino-Dento-Digital Syndrome |
|
Abnormality of the hand, Sparse hair, Uncombable hair, Short 5th metacarpal, Brachydactyly |
ORPHA:1264 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
|
Skeletal muscle atrophy, Muscular dystrophy, Increased variability in muscle fiber diameter, EMG:... |
OMIM:253601 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Proximal muscle weakness in upper limbs, Ragged-red muscle fibers, Increased intramuscular fat, I... |
ORPHA:276435 |
Miyoshi Muscular Dystrophy 1 |
|
Distal amyotrophy, Lower limb muscle weakness, Muscular dystrophy, Deposits immunoreactive to bet... |
OMIM:254130 |
Primary Ciliary Dyskinesia |
|
Atrial situs ambiguous, Asplenia, Chronic otitis media, Neonatal respiratory distress, Abnormal a... |
ORPHA:244 |
Recurrent Respiratory Papillomatosis |
|
Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction... |
ORPHA:60032 |
Blount Disease |
|
Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis... |
ORPHA:2768 |
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes |
|
Widow's peak, Small hand, Broad finger, Clinodactyly, Short phalanx of finger, Thick eyebrow, Bra... |
OMIM:614684 |
Emanuel Syndrome |
|
Chronic oral candidiasis, Sacral dimple, Recurrent respiratory infections, Ventricular septal def... |
OMIM:609029 |
Smith-Mccort Dysplasia 1 |
|
Short metacarpal, Multicentric femoral head ossification, Iliac crest serration, Hypoplastic scap... |
OMIM:607326 |
Myasthenic Syndrome, Congenital, 14 |
|
Scapular winging, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Ragged... |
OMIM:616228 |
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome |
|
Telangiectasia of the skin, Congenital diaphragmatic hernia, Retinal telangiectasia |
ORPHA:438134 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Finger syndactyly, Microcephaly, Synophrys, Abnormal rib morphology, Pectus carinatum, Radioulnar... |
ORPHA:3268 |
Truncus Arteriosus |
|
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... |
ORPHA:3384 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Autoimmunity, Crackles, Atelectasis, Hypersensitivity pneumonitis, Increased circulating IgE leve... |
ORPHA:2902 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Genu varum, Short metacarpal... |
OMIM:300106 |
Osteogenesis Imperfecta, Type I |
|
Osteopenia, Biconcave flattened vertebrae, Recurrent fractures, Mitral valve prolapse, Femoral bo... |
OMIM:166200 |
Brucellosis |
|
Bronchitis, Knee osteoarthritis, Infectious encephalitis, Epididymitis, Pneumonia, Abnormal aorti... |
ORPHA:1304 |
Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Postaxial polydactyly, Micrognathia, Hand polydactyly, Foot polydactyly, Short fi... |
OMIM:258860 |
Sarcoidosis, Susceptibility To, 1 |
|
Uveitis, Inflammation of the large intestine, Cough, Emphysema, Abnormal salivary gland morpholog... |
OMIM:181000 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Omphalocele, Syndactyly, Toe syndactyly, Congenital diaphragmatic hernia, Pulmonary hypoplasia, C... |
OMIM:601163 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Osteopenia, Thoracic scoliosis, Short neck, Osteoarthritis, Generalized joint laxity, Shoulder di... |
OMIM:618000 |
Familial Nasal Acilia |
|
Respiratory distress, Dyspnea, Atelectasis, Recurrent upper respiratory tract infections, Bronchi... |
ORPHA:922 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Osteopenia, Lateral clavicle hook, Metaphyseal widening, Pectus carinatum, Dislocated radial head... |
OMIM:182212 |
Pseudopseudohypoparathyroidism |
|
Short metacarpal, Short metatarsal, Enamel hypoplasia, Brachydactyly |
OMIM:612463 |
Zebra Body Myopathy |
|
Torticollis, Autophagic vacuoles, Facial palsy, Muscle fiber necrosis, Limb-girdle muscular dystr... |
ORPHA:97240 |
Aspergillosis |
|
Sinusitis, Intracranial hemorrhage, Abnormal long bone morphology, Cough, Infectious encephalitis... |
ORPHA:1163 |
Heparin-Induced Thrombocytopenia |
|
Myocardial infarction, Pulmonary embolism, Abnormal onset of bleeding, Stroke, Cerebral ischemia |
ORPHA:3325 |
Stickler Syndrome Type 1 |
|
Abnormal vertebral epiphysis morphology, Platyspondyly, Mitral valve prolapse |
ORPHA:90653 |
Dyggve-Melchior-Clausen Disease |
|
Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Tibial bowing, Femoral bowing, Narrow... |
OMIM:223800 |
Alkaptonuria |
|
Vertebral fusion, Low back pain, Mitral valve calcification, Coronary artery calcification, Kypho... |
OMIM:203500 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Skeletal muscle atrophy, Neonatal respiratory distress, Inguinal hernia, Finger syndactyly, Campt... |
ORPHA:2990 |
Cardiomyopathy, Familial Restrictive, 3 |
|
Myocardial sarcomeric disarray, Abnormal ST segment, Aortic aneurysm, Reduced left ventricular ej... |
OMIM:612422 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Osteopenia, Joint laxity, Inguinal hernia, Cerebral calcification, Portal hypertension, Pectus ex... |
OMIM:613658 |
Sitosterolemia 1 |
|
Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Stomatocytosis, Episodic hemoly... |
OMIM:210250 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Kyphoscoliosis, Pectus excavatum, Pectus carinatum, Mitral valve prolapse, Stroke, Scoliosis, Bic... |
OMIM:236200 |
Heterotaxy, Visceral, 7, Autosomal |
|
Atrial septal defect, Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypopl... |
OMIM:616749 |
Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Muscle fiber inclusion bodies, Autophagic vacuoles, Limb-girdle muscle weakness, Accumulation of ... |
ORPHA:399058 |
Cutis Laxa, Autosomal Dominant 1 |
|
Aortic regurgitation, Inguinal hernia, Ventricular septal defect, Congestive heart failure, Dyspn... |
OMIM:123700 |
Microphthalmia, Syndromic 9 |
|
Inguinal hernia, Ventricular septal defect, Congenital diaphragmatic hernia, Agenesis of pulmonar... |
OMIM:601186 |
Central Core Disease |
|
Kyphoscoliosis, Mitral valve prolapse |
ORPHA:597 |
Bronchiectasis With Or Without Elevated Sweat Chloride 3 |
|
Bronchiectasis, Chronic bronchitis |
OMIM:613071 |
Bronchiectasis With Or Without Elevated Sweat Chloride 2 |
|
Bronchiectasis, Chronic bronchitis |
OMIM:613021 |
Bronchiectasis With Or Without Elevated Sweat Chloride 1 |
|
Bronchiectasis, Chronic bronchitis |
OMIM:211400 |
Sandhoff Disease |
|
Cherry red spot of the macula, Recurrent respiratory infections, Kyphosis, Congestive heart failure |
ORPHA:796 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Autoimmunity, Abnormal immunoglobulin level, Increased T cell count, Increased circulating IgE le... |
ORPHA:98813 |
Ciliary Dyskinesia, Primary, 42 |
|
Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchiectasis, Respirat... |
OMIM:618695 |
Noonan Syndrome With Multiple Lentigines |
|
Abnormal endocardium morphology, Scapular winging, Abnormal pulmonary valve morphology, Pectus ex... |
ORPHA:500 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Follicular hyperplasia, Autoimmune thromboc... |
OMIM:619846 |
Zimmermann-Laband Syndrome 3 |
|
Thick hair, Aplasia of the distal phalanx of the 5th toe, Synophrys, Flexion contracture, Low ant... |
OMIM:618658 |
Ruvalcaba Syndrome |
|
Short metacarpal, Brachydactyly, Inguinal hernia, Proximal placement of thumb, Micromelia, Abnorm... |
ORPHA:3121 |
Thrombocytopenia-Absent Radius Syndrome |
|
Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ... |
ORPHA:3320 |
Atelosteogenesis, Type Ii |
|
Cervical kyphosis, Short neck, Increased intervertebral space, Micrognathia, Lumbar hyperlordosis... |
OMIM:256050 |
Amyotrophic Lateral Sclerosis 20 |
|
Muscle fiber inclusion bodies, Muscular dystrophy, Rimmed vacuoles |
OMIM:615426 |
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome |
|
Abnormal shoulder morphology, Long thorax, Abnormal mitral valve morphology |
ORPHA:1277 |
Red Cell Phospholipid Defect With Hemolysis |
|
Splenomegaly, Reticulocytosis, Intermittent jaundice |
OMIM:179700 |
3M Syndrome |
|
Hypoplasia of the ulna, Scapular winging, Congenital hip dislocation, Thick eyebrow, Rocker botto... |
ORPHA:2616 |
Mounier-Kühn Syndrome |
|
Recurrent respiratory infections, Recurrent bronchopulmonary infections, Pneumonia, Bronchitis |
ORPHA:3347 |
Fabry Disease |
|
Abnormal endocardium morphology, Glomerulopathy, Renal insufficiency, Proteinuria, Transient isch... |
ORPHA:324 |
Acrocallosal Syndrome |
|
Abnormal clavicle morphology, Inguinal hernia, Congenital diaphragmatic hernia |
ORPHA:36 |
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Cerebral berry aneurysm, Mitral valve prolapse |
OMIM:173900 |
Polyvalvular Heart Disease Syndrome |
|
Aortic valve stenosis, Abnormal heart valve morphology, Pulmonic stenosis, Mitral valve prolapse |
ORPHA:228410 |
Ciliary Dyskinesia, Primary, 23 |
|
Neonatal respiratory distress, Productive cough, Recurrent pneumonia, Bronchiectasis, Respiratory... |
OMIM:615451 |
Lethal Recessive Chondrodysplasia |
|
Respiratory distress, Polyhydramnios, Edema, Generalized osteosclerosis, Macroglossia, Short long... |
ORPHA:1423 |
16P13.11 Microduplication Syndrome |
|
Ventricular septal defect, Arachnodactyly, Craniosynostosis, Pectus excavatum, Coarctation of aor... |
ORPHA:261243 |
Acro-Renal-Mandibular Syndrome |
|
Abnormal clavicle morphology, Congenital diaphragmatic hernia, Short neck, Hemivertebrae, Abnorma... |
ORPHA:958 |
8Q22.1 Microdeletion Syndrome |
|
Finger syndactyly, Sparse eyelashes, Camptodactyly of finger, Abnormal hair pattern, Highly arche... |
ORPHA:178303 |
Feingold Syndrome Type 2 |
|
Short thumb, Toe syndactyly, Short middle phalanx of finger, Brachydactyly |
ORPHA:391646 |
Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
Basal Ganglia Calcification, Idiopathic, Childhood-Onset |
|
Basal ganglia calcification, Calcification of the small brain vessels, Limb joint contracture, De... |
OMIM:114100 |
2Q37 Microdeletion Syndrome |
|
Finger syndactyly, Short metacarpal, Toe syndactyly, Eczema, Congenital diaphragmatic hernia, Sho... |
ORPHA:1001 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Skeletal muscle atrophy, Axial muscle atrophy, Atelectasis, Limb-girdle muscle weakness, Achilles... |
ORPHA:254361 |
Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
Primary Sjögren Syndrome |
|
Myositis, Chronic active hepatitis, Bronchitis, Nonproductive cough, Xerostomia, Tubulointerstiti... |
ORPHA:289390 |
Combined Immunodeficiency, X-Linked |
|
Sinusitis, Pneumonia, Recurrent bronchitis, Otitis media |
OMIM:312863 |
Muscular Hypertonia, Lethal |
|
Respiratory distress, Pneumonia |
OMIM:254120 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Splenomegaly, Recurrent pancreatitis |
OMIM:118830 |
Loeys-Dietz Syndrome 6 |
|
Ventricular hypertrophy, Carotid artery dissection, Thoracic aortic aneurysm, Arachnodactyly, Kne... |
OMIM:619656 |
Desbuquois Dysplasia 2 |
|
Epiphyseal dysplasia, Short metacarpal, Pes planus, Monkey wrench femoral neck, Single transverse... |
OMIM:615777 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Osteopenia, Skeletal muscle atrophy, Congenital hip dislocation, Bicuspid aortic valve, Pectus ca... |
ORPHA:536545 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Bicuspid aortic valve, Ventricular septal defect, Abnormal form of the vertebral bodies, Coarctat... |
ORPHA:371428 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Osteopenia, Epiphyseal dysplasia, Bowing of the long bones, Joint laxity, Kyphoscoliosis, Pectus ... |
OMIM:615349 |
Congenital Heart Defects, Multiple Types, 7 |
|
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... |
OMIM:618780 |
Flna-Related X-Linked Myxomatous Valvular Dysplasia |
|
Bicuspid aortic valve, Pectus excavatum, Patent ductus arteriosus, Mitral valve prolapse, Scolios... |
ORPHA:555877 |
Temporal Arteritis |
|
Retinal arteritis |
OMIM:187360 |
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile |
|
Hip contracture, Shoulder flexion contracture, Proximal amyotrophy, Myopathy, Type 1 muscle fiber... |
OMIM:605355 |
Adams-Oliver Syndrome 3 |
|
Absent toe, Short metatarsal, 2-3 toe syndactyly, Short palm, Short distal phalanx of finger, Sho... |
OMIM:614814 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Neutropenia |
ORPHA:70592 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Thrombocytopenia, Increased mean platelet volume |
OMIM:300048 |
Mucopolysaccharidosis, Type Ivb |
|
Epiphyseal deformities of tubular bones, Metaphyseal widening, Flaring of rib cage, Joint laxity,... |
OMIM:253010 |
Bent Bone Dysplasia Syndrome 2 |
|
Ulnar deviation of the hand, Bowed humerus, Ulnar bowing, Femoral bowing, Webbed neck, Short ster... |
OMIM:620076 |
Microlissencephaly |
|
Pneumonia |
ORPHA:1083 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Respiratory distress, Lumbar hyperlordosis, Spinal rigidity, Centrally nucleated skeletal muscle ... |
ORPHA:86812 |
Greig Cephalopolysyndactyly Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Congenital diaphragmatic hernia, Cranios... |
ORPHA:380 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3 |
|
Skeletal muscle atrophy, Scapular winging, Ragged-red muscle fibers, Weakness of facial musculature |
OMIM:617069 |
Optic Atrophy 8 |
|
Mitral valve prolapse |
OMIM:616648 |
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Mitral valve prolapse |
OMIM:211960 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15 |
|
Myopathy, Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers |
OMIM:618992 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Micrognathia, Abnormal hair morphology, Pectus excavatum, Abnormal thorax morphology, Flexion con... |
ORPHA:1979 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Osteopenia, Congenital diaphragmatic hernia, Hypertension, Osteolysis involving tarsal bones, Met... |
OMIM:166300 |
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
|
Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia... |
ORPHA:988 |
Meconium Aspiration Syndrome |
|
Respiratory distress, Neonatal asphyxia, Wheezing, Pneumothorax, Atelectasis, Abnormal heart rate... |
ORPHA:70588 |
Myopathy, Tubular Aggregate, 1 |
|
Flexion contracture, Type 2 muscle fiber atrophy, Proximal amyotrophy, Myopathy, Type 1 muscle fi... |
OMIM:160565 |
Axial Spondylometaphyseal Dysplasia |
|
Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Proximal femoral metaphyseal... |
ORPHA:168549 |
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency |
|
Skeletal muscle atrophy, Torticollis, Fatty replacement of skeletal muscle, Increased variability... |
OMIM:613204 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Bowin... |
ORPHA:85167 |
Lateral Meningocele Syndrome |
|
Vertebral fusion, Decreased muscle mass, Inguinal hernia, Bicuspid aortic valve, Ventricular sept... |
OMIM:130720 |
Thrombocytopenia-Absent Radius Syndrome |
|
Edema of the dorsum of feet, Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodac... |
OMIM:274000 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Bicuspid aortic valve, Parachute mitral valve, Asplenia, Abnormal lung lobation, Atrial septal de... |
OMIM:265380 |
Alkaptonuria |
|
Mitral valve calcification, Abnormal heart valve morphology, Myocardial infarction, Coronary arte... |
ORPHA:56 |
Diastrophic Dysplasia |
|
Abnormal clavicle morphology, Cerebral calcification, Proximal placement of thumb, Abnormal form ... |
ORPHA:628 |
Laurin-Sandrow Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Talipes, A... |
ORPHA:2378 |
Emanuel Syndrome |
|
Recurrent respiratory infections, Sacral dimple, Multiple joint contractures, Ventricular septal ... |
ORPHA:96170 |
Pde4D Haploinsufficiency Syndrome |
|
Pes planus, Short metacarpal, Broad hallux, Abnormal dental enamel morphology, Micrognathia, Shor... |
ORPHA:439822 |
Bronchogenic Cyst |
|
Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Abnormal pericardium morphology, Abnormal ... |
ORPHA:2357 |
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Scapular winging, Centrally nucleated skeletal muscle fibers, Proximal amyotrophy, Myopathy, Musc... |
OMIM:612999 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Respiratory distress, Polyhydramnios, Short neck, Narrow chest, Radial bowing, Dumbbell-shaped lo... |
OMIM:151210 |
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures |
|
Camptodactyly of finger, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, C... |
OMIM:617072 |
Congenital Myopathy 23 |
|
Skeletal muscle atrophy, Scapular winging, Flexion contracture, Facial diplegia, Type 1 muscle fi... |
OMIM:609285 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Respiratory distress, First degree atrioventricular block, Cardiomegaly, Right atrial enlargement... |
OMIM:115197 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Short fourth metatarsal, Tibial metaphyseal irregularity, Coxa vara, Flattened femoral head, Shor... |
ORPHA:457395 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2 |
|
EMG: myopathic abnormalities, Ragged-red muscle fibers, Facial palsy |
OMIM:609283 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Multiple joint contractures, Lymphedema, Metaphyseal widening, Flexion contracture, A... |
ORPHA:536471 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
Hypereosinophilic Syndrome, Idiopathic |
|
Splenomegaly, Hepatomegaly, Eosinophilia, Myeloproliferative disorder |
OMIM:607685 |
Weill-Marchesani Syndrome 2 |
|
Short metacarpal, Striae distensae, Ventricular septal defect, Lumbar hyperlordosis, Hypoplasia o... |
OMIM:608328 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 |
|
Facial palsy, Flexion contracture, Shoulder girdle muscle weakness, Muscular dystrophy, Muscle fi... |
OMIM:603511 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Giant cell hepatitis, Hepatomegaly, Proteinuria, Ventricular septal defect, Pruritus, Nephrocalci... |
OMIM:613404 |
Focal Dermal Hypoplasia |
|
Congenital diaphragmatic hernia, Hernia, Finger syndactyly, Abnormal dental enamel morphology, Pa... |
ORPHA:2092 |
Acrofacial Dysostosis, RodrÃguez Type |
|
Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Radioulnar synostosi... |
ORPHA:1788 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Broad toe, Pes planus, Enlarged metacarpal epiphyses, Enlarged epiphyses of the phalanges of the ... |
OMIM:609616 |
Neurogenic Arthrogryposis Multiplex Congenita |
|
Respiratory distress, Skeletal muscle atrophy, Hip contracture, Lower limb muscle weakness, Ankle... |
ORPHA:1143 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Micrognathia, Absent radius, Aplasia of ... |
ORPHA:1352 |
Frank-Ter Haar Syndrome |
|
Kyphosis, Beaking of vertebral bodies, Scoliosis, Mitral valve prolapse |
ORPHA:137834 |
Lethal Kniest-Like Dysplasia |
|
Abnormal ischium morphology, Broad long bones, Anterior rib cupping, Short neck, Hypoplastic ilia... |
ORPHA:2347 |
Larsen Syndrome |
|
Cervical kyphosis, Short metatarsal, Pectus carinatum, Atrial septal defect, Spina bifida occulta... |
OMIM:150250 |
Takayasu Arteritis |
|
Arteritis |
OMIM:207600 |
Idiopathic Pulmonary Fibrosis |
|
Crackles, Bronchiectasis, Abnormal pulmonary interstitial morphology, Honeycomb lung, Pulmonary f... |
ORPHA:2032 |
Acute Interstitial Pneumonia |
|
Peribronchovascular interstitial thickening, Crackles, Nodular pattern on pulmonary HRCT, Pericar... |
ORPHA:79126 |
Spondylometaphyseal Dysplasia, Algerian Type |
|
Metaphyseal dysplasia, Bowed humerus, Short tubular bones of the hand, Tibial metaphyseal irregul... |
OMIM:184253 |
Calciphylaxis |
|
Ectopic ossification, Arterial calcification, Cellulitis |
ORPHA:280062 |
Obesity Due To Sim1 Deficiency |
|
Hyperinsulinemia, Obesity, Attention deficit hyperactivity disorder, Increased resting energy exp... |
ORPHA:369873 |
Saul-Wilson Syndrome |
|
Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Coxa valga, Micrognathi... |
OMIM:618150 |
Pentalogy Of Cantrell |
|
Omphalocele, Ventricular septal defect, Abnormal pericardium morphology, Congenital diaphragmatic... |
ORPHA:1335 |
Isolated Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Sinusitis, Skin rash, Pn... |
ORPHA:229717 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Pneumonia, Eosinophilia, Asthma, Increased circulating IgE level, Atopic dermatitis, Bronchiectas... |
OMIM:617638 |
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome |
|
Right ventricular dilatation, Myopathy, Restrictive ventilatory defect, Limb-girdle muscular dyst... |
ORPHA:369847 |
Camurati-Engelmann Disease, Type 2 |
|
Thoracolumbar scoliosis, Mitral valve prolapse |
OMIM:606631 |
Interstitial Lung Disease 2 |
|
Dyspnea, Alveolar cell carcinoma, Elevated bronchoalveolar lavage fluid neutrophil proportion, Pu... |
OMIM:178500 |
Otospondylomegaepiphyseal Dysplasia |
|
Epiphyseal dysplasia, Short metacarpal, Abnormal pelvis bone morphology, Sandal gap, Micrognathia... |
ORPHA:1427 |
Microphthalmia With Limb Anomalies |
|
Micrognathia, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of... |
ORPHA:1106 |
Ulnar-Mammary Syndrome |
|
Deformed radius, Aplasia of the 3rd metacarpal, Aplasia of the 4th metacarpal, Aplasia of the 4th... |
OMIM:181450 |
Multiminicore Myopathy |
|
Proximal muscle weakness in upper limbs, Abnormal muscle fiber morphology, Proximal muscle weakne... |
ORPHA:598 |
Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Abnormal heart valve morphology, Recurrent shoulder dislocation, Thoracolumbar scoliosis, Kyphosc... |
ORPHA:230851 |
Weismann-Netter Syndrome |
|
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia... |
ORPHA:3344 |
Ulna Metaphyseal Dysplasia Syndrome |
|
Abnormal morphology of ulna, Abnormal fibula morphology, Aplasia/Hypoplasia of the radius, Abnorm... |
ORPHA:1837 |
Caspase 8 Deficiency |
|
Recurrent sinopulmonary infections, Complete or near-complete absence of specific antibody respon... |
OMIM:607271 |
Loeys-Dietz Syndrome |
|
Abnormal bleeding, Arachnodactyly, Cardiac arrest, Craniosynostosis, Arterial tortuosity, Pectus ... |
ORPHA:60030 |
Roifman Syndrome |
|
Hip contracture, Short metacarpal, Single transverse palmar crease, Short toe, Irregular femoral ... |
OMIM:616651 |
Congenital Myopathy 8 |
|
Internally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Abno... |
OMIM:618654 |
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant |
|
Calf muscle pseudohypertrophy, Scapular winging, Centrally nucleated skeletal muscle fibers, Scap... |
OMIM:608358 |
Radiation Proctitis |
|
Abnormal vascular morphology, Abnormal gastrointestinal vascular morphology, Hematochezia, Abnorm... |
ORPHA:70475 |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Increased variability in muscle fiber diameter, Flexion contracture, Muscle fiber intracytoplasmi... |
OMIM:300718 |
Acrorenal Syndrome |
|
Abnormal morphology of ulna, Micrognathia, Abnormal tibia morphology, Split hand, Aplasia/Hypopla... |
ORPHA:971 |
Interstitial Lung Disease 1 |
|
Nonspecific interstitial pneumonia, Crackles, Intralobular septal thickening, Cough, Dyspnea, Res... |
OMIM:619611 |
Immunoglobulin A Deficiency 2 |
|
Abnormal lymphocyte morphology, Autoimmunity, Decreased circulating IgA level |
OMIM:609529 |
Aortic Valve Disease 1 |
|
Ventricular septal defect, Bicuspid aortic valve, Mitral stenosis, Mitral atresia, Aortic valve c... |
OMIM:109730 |
Phaver Syndrome |
|
Broad hallux phalanx, Ventricular septal defect, Camptodactyly of finger, Joint stiffness, Short ... |
ORPHA:2876 |
Legg-Calvé-Perthes Disease |
|
Cartilage destruction, Skeletal muscle atrophy |
ORPHA:2380 |
Myopathy, Distal, 1 |
|
Toe extensor amyotrophy, Tibialis anterior muscle atrophy, Facial palsy, Ragged-red muscle fibers... |
OMIM:160500 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Shoulder flexion contracture, A... |
OMIM:619566 |
Moebius Syndrome |
|
Syndactyly, Brachydactyly, Pes planus, Micrognathia, Split hand, Hand clenching, Abnormal pelvic ... |
OMIM:157900 |
Diastrophic Dysplasia |
|
Hip contracture, Flattened epiphysis, Genu valgum, Ulnar deviation of finger, Irregular epiphyses... |
OMIM:222600 |
Absence Of The Pulmonary Artery |
|
Abnormal coronary artery morphology, Cardiomegaly, Nonproductive cough, Pedal edema, Atrial septa... |
ORPHA:980 |
Ciliary Dyskinesia, Primary, 27 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... |
OMIM:615504 |
Stuve-Wiedemann Syndrome 1 |
|
Single transverse palmar crease, Micrognathia, Tibial bowing, Femoral bowing, Knee flexion contra... |
OMIM:601559 |
X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
Immunodeficiency 95 |
|
Respiratory distress, Recurrent respiratory infections, Respiratory failure, Recurrent viral pneu... |
OMIM:619773 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Polyhydramnios, Pustule, Recurrent pneumonia, Dehydration, Coarctation of aorta, Hypertension, Re... |
OMIM:616069 |
Geleophysic Dysplasia 1 |
|
Hepatomegaly, Tricuspid stenosis, Camptodactyly of finger, Coxa valga, Pectus excavatum, Lack of ... |
OMIM:231050 |
Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Cardiac arrest, Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, ... |
ORPHA:70587 |
Congenital Myopathy 14 |
|
Hip contracture, Flexion contracture, Elbow flexion contracture, Increased variability in muscle ... |
OMIM:618414 |
Muscular Dystrophy, Limb-Girdle, Type 1H |
|
Calf muscle hypertrophy, Muscular dystrophy, Shoulder girdle muscle atrophy, Centrally nucleated ... |
OMIM:613530 |
Juberg-Hayward Syndrome |
|
Abnormal eyebrow morphology, Toe syndactyly, Highly arched eyebrow, Short thumb, Hypoplasia of th... |
ORPHA:2319 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate produ... |
ORPHA:75564 |
Ehlers-Danlos Syndrome, Cardiac Valvular Type |
|
Pectus excavatum, Mitral valve prolapse |
OMIM:225320 |
Loeys-Dietz Syndrome 1 |
|
Atrial septal defect, Bicuspid aortic valve, Arterial tortuosity, Descending thoracic aorta aneur... |
OMIM:609192 |
Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
Gray Platelet Syndrome |
|
Splenomegaly, Abnormality of thrombocytes, Thrombocytopenia |
ORPHA:721 |
Pseudohypoparathyroidism, Type Ib |
|
Short metacarpal, Brachydactyly |
OMIM:603233 |
Classic Multiminicore Myopathy |
|
Absent muscle fiber merosin, Multiple joint contractures, Intermittent episodes of respiratory in... |
ORPHA:324604 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Laryngeal calcification, Cervical kyphosis, Tachypnea, Tracheal calcification, Atrial septal defe... |
ORPHA:79345 |
Alg9-Cdg |
|
Short neck, Micrognathia, Abnormal lung lobation, Right ventricular dilatation, Abnormal left ven... |
ORPHA:79328 |
Klippel-Trénaunay Syndrome |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Peripheral arteriovenous fistula, Edema, Pu... |
ORPHA:90308 |
Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Scapular winging, Quadriceps muscle weakness, Achilles tendon contracture, Increased variability ... |
OMIM:603689 |
Diaphanospondylodysostosis |
|
Respiratory distress, Short neck, Missing ribs, Short thorax, Enlarged thorax, Narrow pelvis bone... |
ORPHA:66637 |
Immunodeficiency, Common Variable, 1 |
|
Hepatomegaly, Pneumonia, Impaired T cell function, Splenomegaly, Recurrent pneumonia, Bronchiecta... |
OMIM:607594 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Arteria lusoria, Abnormal aortic arch morphology, Aortopulmonary window, Atrial septal defect, Pu... |
ORPHA:99050 |
Igg4-Related Kidney Disease |
|
Pericarditis, Inflammatory abnormality of the skin, Lymphadenitis, Urinary bladder inflammation, ... |
ORPHA:449395 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Recurrent respiratory infections, Kyphosis |
ORPHA:85288 |
Van Den Ende-Gupta Syndrome |
|
Glenoid fossa hypoplasia, Micrognathia, 2-3 toe cutaneous syndactyly, Narrow foot, Femoral bowing... |
OMIM:600920 |
Peripartum Cardiomyopathy |
|
Orthopnea, Left atrial enlargement, Crackles, Myocarditis, Dyspnea, Dilated cardiomyopathy, Asthm... |
ORPHA:563 |
Atelosteogenesis, Type I |
|
Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Vertebral hypoplasia, Short meta... |
OMIM:108720 |
Meier-Gorlin Syndrome 4 |
|
Cryptorchidism, Emphysema, Breast hypoplasia |
OMIM:613804 |
Kniest Dysplasia |
|
Respiratory distress, Short neck, Delayed epiphyseal ossification, Coxa vara, Tibial bowing, Genu... |
OMIM:156550 |
Charcot-Marie-Tooth Disease, Recessive Intermediate A |
|
Angulated muscle fibers, Upper limb muscle weakness, Distal amyotrophy, Type 1 muscle fiber predo... |
OMIM:608340 |
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome |
|
Aspiration pneumonia |
OMIM:609528 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Epiphyseal dysplasia, Large tarsal bones, Micrognathia, Flexion contracture, Flared metaphysis, P... |
OMIM:215150 |
Factor V Excess With Spontaneous Thrombosis |
|
Peripheral arterial stenosis, Pulmonary embolism |
OMIM:134400 |
Q Fever |
|
Respiratory distress, Rheumatoid factor positive, Cholecystitis, Cough, Lupus anticoagulant, Infe... |
ORPHA:781 |
Severe Combined Immunodeficiency, X-Linked |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Skin rash, Pneumonia, R... |
OMIM:300400 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Congenital diaphragmatic hernia, Short neck, Flexion contracture, Hy... |
OMIM:265000 |
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Rocker bottom foot, Polyhydramnios, Tapered finger, Pericardial effusion, Multiple muscular ventr... |
OMIM:620070 |
Atelosteogenesis Type Iii |
|
Absent humerus, Ulnar deviation of the wrist, Epiphyseal stippling of the humerus, Short tubular ... |
ORPHA:56305 |
Sandhoff Disease, Adult Form |
|
Muscle fiber atrophy, Upper limb muscle weakness, Proximal muscle weakness in lower limbs |
ORPHA:309169 |
Microcephaly-Micromelia Syndrome |
|
Micromelia, Absent thumb, Absent radius, Micrognathia, Missing ribs, Humeroradial synostosis, For... |
OMIM:251230 |
Xp22.13P22.2 Duplication Syndrome |
|
Congenital diaphragmatic hernia, Short neck, Pectus excavatum, Tapered finger, Recurrent upper re... |
ORPHA:284180 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
T lymphocytopenia, B lymphocytopenia |
OMIM:233650 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 |
|
Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Muscular dystrophy, Increased vari... |
OMIM:608807 |
Pulmonary Hypertension, Primary, 1 |
|
Increased pulmonary vascular resistance, Dyspnea, Pulmonary arterial medial hypertrophy, Pulmonar... |
OMIM:178600 |
Ehlers-Danlos Syndrome, Classic Type, 1 |
|
Pectus excavatum, Mitral valve prolapse, Aortic root aneurysm, Recurrent sinusitis, Recurrent low... |
OMIM:130000 |
Meester-Loeys Syndrome |
|
Mitral valve prolapse, Ascending tubular aorta aneurysm, Dilatation of the cerebral artery, Aorti... |
OMIM:300989 |
Myopathy, Distal, 3 |
|
Distal amyotrophy, Muscular dystrophy, EMG: myopathic abnormalities, Joint contracture of the han... |
OMIM:610099 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia |
OMIM:617441 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc |
|
Ragged-red muscle fibers, Lower limb amyotrophy, Upper limb amyotrophy, Upper limb muscle weaknes... |
OMIM:616924 |
Dpm3-Cdg |
|
Stroke-like episode, Calf muscle hypertrophy, Muscular dystrophy, Pelvic girdle muscle weakness, ... |
ORPHA:263494 |
Synaptic Congenital Myasthenic Syndromes |
|
Respiratory distress, Hypoventilation, Neonatal respiratory distress, Skeletal muscle atrophy, Sc... |
ORPHA:98915 |
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome |
|
Osteopathia striata, Abnormal pelvic girdle bone morphology, White forelock, Abnormal diaphysis m... |
ORPHA:2779 |
Erythrocytosis, Familial, 8 |
|
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
Finnish Upper Limb-Onset Distal Myopathy |
|
Fatty replacement of skeletal muscle, Intrinsic hand muscle atrophy, Amyotrophy of ankle musculat... |
ORPHA:399086 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Short phalanx of fing... |
OMIM:250220 |
Fkrp-Related Limb-Girdle Muscular Dystrophy R9 |
|
Reduced muscle fiber alpha dystroglycan, Calf muscle hypertrophy, Shoulder girdle muscle weakness... |
ORPHA:34515 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Early ossification of capital femoral epiphyses, Cone-shaped epiphyses of... |
OMIM:208500 |
Epidermal Nevus Syndrome |
|
Osteopenia, Thoracolumbar scoliosis, Rhabdomyosarcoma, Weakness of long finger extensor muscles, ... |
ORPHA:35125 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Hip contracture, Scapular winging, Spinal muscular atrophy, Hyperlordosis, Pectus excavatum, Kyph... |
OMIM:615290 |
Congenital Heart Defects, Multiple Types, 6 |
|
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... |
OMIM:613854 |
Pseudoxanthoma Elasticum |
|
Abnormal endocardium morphology, Abnormal cerebral vascular morphology, Abnormal thorax morpholog... |
ORPHA:758 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Neutropenia |
ORPHA:90023 |
Congenital Myopathy 18 |
|
Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Increased e... |
OMIM:620246 |
Distal Myopathy, Tateyama Type |
|
Calf muscle pseudohypertrophy, Increased variability in muscle fiber diameter, Intrinsic hand mus... |
ORPHA:488650 |
Endosteal Hyperostosis, Worth Type |
|
Craniofacial hyperostosis, Sclerotic vertebral body, Facial palsy, Generalized osteosclerosis, Ab... |
ORPHA:2790 |
Kyphomelic Dysplasia |
|
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Micrognat... |
OMIM:211350 |
Ciliary Dyskinesia, Primary, 46 |
|
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent pneumoni... |
OMIM:619436 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
11 pairs of ribs, Finger syndactyly, Neonatal respiratory distress, Diaphragmatic eventration, Ve... |
OMIM:620025 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Hepatomegaly, Micrognathia, Kyphosis, Lack of skin elasticity, Scoliosis, Joint contracture |
OMIM:615381 |
Perching Syndrome |
|
Respiratory distress, Joint contracture, Scoliosis, Camptodactyly |
OMIM:617055 |
Congenital Myopathy 6 With Ophthalmoplegia |
|
Scapular winging, Muscle fiber inclusion bodies, Myopathy, Congenital contracture, Type 1 muscle ... |
OMIM:605637 |
Congenital Myopathy 9B, Proximal, With Minicore Lesions |
|
Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Type 1 muscle f... |
OMIM:618823 |
Tracheobronchopathia Osteochondroplastica |
|
Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... |
ORPHA:3348 |
Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Decreased muscle mass, Inguinal hernia, Lipodystrophy, Congenital hip dislocation, Subretinal pig... |
ORPHA:357074 |
Mesomelic Dysplasia, Nievergelt Type |
|
Finger syndactyly, Bilateral single transverse palmar creases, Abnormal morphology of ulna, Tarsa... |
ORPHA:2633 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Skeletal muscle atrophy, Angina pectoris, Lymphedema, Pectus excavatum, Telangiectasia, Intracran... |
ORPHA:109 |
Viss Syndrome |
|
Tortuous cerebral arteries, Epidural hemorrhage, Chronic gastritis, Polyhydramnios, Generalized j... |
OMIM:619472 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Joint laxity, Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Sandal gap, Pat... |
ORPHA:477817 |
Acromesomelic Dysplasia, Maroteaux Type |
|
Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the vertebral bodies, Vertebral... |
ORPHA:40 |
Partial Atrioventricular Septal Defect |
|
Bicuspid aortic valve, Abnormal tricuspid valve morphology, Bacterial endocarditis, Atrial arrhyt... |
ORPHA:1330 |
Spondylometaphyseal Dysplasia, Type A4 |
|
Brachydactyly, Ovoid vertebral bodies, Coxa valga, Metaphyseal sclerosis, Enlargement of the cost... |
OMIM:609052 |
Refractory Anemia |
|
Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm... |
ORPHA:98826 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Respiratory failure requiring assisted ventilation, Dyspnea, Upper limb muscle weakness, Respirat... |
ORPHA:90117 |
Chromosome 2Q37 Deletion Syndrome |
|
Short metacarpal, Short fourth metatarsal, Highly arched eyebrow, Short toe, Short phalanx of fin... |
OMIM:600430 |
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
|
Increased variability in muscle fiber diameter, Flexion contracture, Muscle fiber intracytoplasmi... |
OMIM:300717 |
Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran... |
OMIM:606217 |
Hypochondroplasia |
|
Brachydactyly, Aplasia/hypoplasia of the extremities, Flared metaphysis, Short long bone, Short f... |
OMIM:146000 |
Immunodeficiency 43 |
|
Hypoplasia of the ulna, Radial bowing |
OMIM:241600 |
Myopathy, X-Linked, With Excessive Autophagy |
|
Skeletal muscle atrophy, Flexion contracture, Proximal muscle weakness in lower limbs, Myopathy, ... |
OMIM:310440 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Recurrent respiratory infections, Ventricular septal defect, Recurrent skin infections, Joint sti... |
OMIM:620210 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Thr... |
OMIM:603552 |
Trichorhinophalangeal Syndrome, Type I |
|
Pes planus, Short metacarpal, Ivory epiphyses of the distal phalanges of the hand, Swelling of pr... |
OMIM:190350 |
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Ventricular septal defect, Short neck, Joint stiffness, Abnormal lung lobation, Abnormal aortic m... |
ORPHA:2516 |
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Scapular winging, Abnormal macrophage morphology, Calf muscle pseudohypertrophy, Achilles tendon ... |
ORPHA:353 |
Immunodeficiency 21 |
|
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... |
OMIM:614172 |
Czech Dysplasia |
|
Narrow femoral neck, Short metacarpal, Flat capital femoral epiphysis, Short toe, Flexion contrac... |
OMIM:609162 |
Hip Dysplasia, Beukes Type |
|
Abnormality of the epiphysis of the femoral head, Abnormal ossification involving the femoral hea... |
ORPHA:2114 |
Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Recurrent respiratory infections, Neonatal respiratory distress, Decreased nasal nitric oxide, Br... |
OMIM:300991 |
Cernunnos-Xlf Deficiency |
|
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia |
ORPHA:169079 |
Ophthalmomandibulomelic Dysplasia |
|
Radial bowing, Coxa valga, Elbow dislocation, Ulnar deviated club hands, Lateral humeral condyle ... |
OMIM:164900 |
Muscle Filaminopathy |
|
Scapular winging, Fatty replacement of skeletal muscle, Abnormality of masticatory muscle, EMG: m... |
ORPHA:171445 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Ventricula... |
OMIM:610978 |
Scedosporiosis |
|
Unusual skin infection, Pericarditis, Osteomyelitis, Arthralgia/arthritis, Sinusitis, Pneumonia, ... |
ORPHA:449280 |
Duane-Radial Ray Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Short humerus, Sandal gap, Radial deviation of the hand, Pes ... |
OMIM:607323 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Hip contracture, Hyperextensibility of the finger joints, Thoracolumbar scoliosis, Tapered finger... |
OMIM:313420 |
Temtamy Syndrome |
|
Aortic regurgitation, Hip dislocation, Aortic aneurysm, Short 2nd toe, Brachydactyly |
OMIM:218340 |
Gaucher Disease Type 2 |
|
Respiratory distress, Recurrent respiratory infections, Cardiac arrest, Flexion contracture, Coug... |
ORPHA:77260 |
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome |
|
Aplasia/Hypoplasia of the lungs, Recurrent respiratory infections, Kyphosis, Scoliosis |
ORPHA:1548 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Osteopenia, Inflammatory abnormality of the skin, Medial calcification of large arteries, Eczema,... |
ORPHA:391487 |
Meacham Syndrome |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Situs inversus totalis, Patent ductus... |
ORPHA:3097 |
Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia |
OMIM:300299 |
Stickler Syndrome, Type I |
|
Pectus excavatum, Kyphosis, Mitral valve prolapse, Platyspondyly, Morbus Scheuermann, Scoliosis, ... |
OMIM:108300 |
Chondrodysplasia-Difference Of Sex Development Syndrome |
|
Short metacarpal, Broad long bones, Micromelia, Abnormal shoulder morphology, Abnormal pelvic gir... |
ORPHA:1422 |
Panbronchiolitis, Diffuse |
|
Crackles, Rhonchi, Wheezing, Bronchiectasis, Hypoxemia, Cough, Foam cells |
OMIM:604809 |
Cardiomyopathy, Dilated, 1Gg |
|
Respiratory distress, Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ... |
OMIM:613642 |
Cardiospondylocarpofacial Syndrome |
|
Abnormal form of the vertebral bodies, Mitral valve prolapse |
ORPHA:3238 |
Orofaciodigital Syndrome Ix |
|
Short tibia, Toe syndactyly, Hand polydactyly, Camptodactyly |
OMIM:258865 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis |
OMIM:224100 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral fusion, Vertebral artery hypoplasia, Unilateral vertebral artery hypoplasia, Abnormal o... |
OMIM:613686 |
Distal Myotilinopathy |
|
EMG: myopathic abnormalities, Distal amyotrophy, Multiple joint contractures, Abnormal muscle fib... |
ORPHA:98911 |
Antisynthetase Syndrome |
|
Recurrent respiratory infections, Myositis, Myocarditis, Abnormal pulmonary interstitial morpholo... |
ORPHA:81 |
Linear Verrucous Nevus Syndrome |
|
Sparse scalp hair, Short metacarpal, Toe syndactyly, Genu recurvatum, Talipes |
ORPHA:2611 |
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive |
|
Nemaline bodies, Increased variability in muscle fiber diameter, Neonatal death, Weakness of faci... |
OMIM:620265 |
Osteogenesis Imperfecta, Type X |
|
Osteopenia, Respiratory distress, Thoracic scoliosis, Generalized joint laxity, Tibial bowing, Na... |
OMIM:613848 |
Coronary Arterial Fistula |
|
Orthopnea, Bicuspid aortic valve, Cardiomegaly, Tachypnea, Abnormal heart morphology, Right ventr... |
ORPHA:2041 |
Hypomyelination Neuropathy-Arthrogryposis Syndrome |
|
Respiratory distress, Limitation of joint mobility |
ORPHA:2680 |
Trisomy 1Q |
|
Omphalocele, Ventricular septal defect, Camptodactyly of finger, Polyhydramnios, Congenital diaph... |
ORPHA:261344 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Clubbing, ... |
OMIM:610913 |
Fryns Syndrome |
|
Omphalocele, Polyhydramnios, Short neck, Congenital diaphragmatic hernia, Abnormal aortic arch mo... |
ORPHA:2059 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Medial flaring of the eyebrow, Prominent fingertip pads, Respiratory distress, Sparse eyelashes, ... |
OMIM:612863 |
Ciliary Dyskinesia, Primary, 20 |
|
Atrial situs inversus, Recurrent respiratory infections, Ventricular septal defect, Dextrocardia,... |
OMIM:615067 |
Acro-Renal-Ocular Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Abnormal morphol... |
ORPHA:959 |
Activated Pi3K-Delta Syndrome |
|
Hepatomegaly, Pneumonia, Autoimmunity, Splenomegaly, Bronchiectasis, Decreased circulating antibo... |
ORPHA:397596 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,... |
ORPHA:93314 |
Immunodeficiency 8 With Lymphoproliferation |
|
Lymphopenia |
OMIM:615401 |
Enthesitis-Related Juvenile Idiopathic Arthritis |
|
Back pain, Abnormal thoracic spine morphology, Dilatation of the ventricular cavity, Abnormal hea... |
ORPHA:85438 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Respiratory distress, Skeletal muscle atrophy, Hip contracture, Interphalangeal joint contracture... |
ORPHA:1145 |
Pagod Syndrome |
|
Omphalocele, Abnormal clavicle morphology, Sudden cardiac death, Congenital diaphragmatic hernia,... |
ORPHA:991 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Genu recurvatum, Flexion contracture, Tibial bowing, Knee dislocation, Shoulder dislocation, Shor... |
OMIM:143095 |
Merrf |
|
Myopathy, Ragged-red muscle fibers |
ORPHA:551 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7 |
|
Hypoglycosylation of alpha-dystroglycan, Scapular winging, Macroglossia, Calf muscle hypertrophy,... |
OMIM:616052 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Giant cell hepatitis, Atrial septal defect, Ventricular septal defect, Nephrocalcinosis, Renal tu... |
OMIM:208085 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Recurrent respiratory infections, Atrial septal defect, Osteomyelitis, Recurrent skin infections,... |
OMIM:618282 |
Omenn Syndrome |
|
Hepatomegaly, Alopecia, Pneumonia, Eosinophilia, Autoimmunity, Pruritus, Splenomegaly, Leukocytos... |
ORPHA:39041 |
Monosomy 18Q |
|
Left-to-right shunt, Absence of the pulmonary valve, Arachnodactyly, Kyphoscoliosis, Tapered fing... |
ORPHA:1600 |
Pulmonary Alveolar Proteinosis, Acquired |
|
Recurrent respiratory infections, Brain abscess, Lung abscess, Pneumonia, Anti-granulocyte-macrop... |
OMIM:610910 |
Mucopolysaccharidosis, Type Iva |
|
Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening, Pectus carinatum, Flar... |
OMIM:253000 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Neutrophilia, Pneumonia, Widow's peak, Bronchiolitis, Periodontitis, Reduction of neutrophil moti... |
OMIM:266265 |
Congenital Tricuspid Valve Dysplasia |
|
Respiratory failure requiring assisted ventilation, Hepatomegaly, Cardiomegaly, Pericardial effus... |
ORPHA:555874 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Aortic regurgitation, Recurrent respiratory infections, Inguinal hernia, Toe syndactyly, Ventricu... |
ORPHA:261330 |
Cryohydrocytosis |
|
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis |
OMIM:185020 |
Ciliary Dyskinesia, Primary, 25 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Dextrocardia, Chronic bronchitis... |
OMIM:615482 |
Lymphedema-Hypoparathyroidism Syndrome |
|
Pulmonary lymphangiectasia, Mitral valve prolapse |
OMIM:247410 |
Ciliary Dyskinesia, Primary, 3 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Decreased nasal nitric oxide, Br... |
OMIM:608644 |
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Pectus excavatum, Patent ductus arteriosus, Hemivertebrae, Mitral valve prolapse, Scoliosis |
OMIM:104350 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Kyphoscoliosis, Cardiomegaly, Abnormal atrioventricular valve morphology, Mitral valve prolapse, ... |
ORPHA:324410 |
Bardet-Biedl Syndrome 16 |
|
Respiratory distress, Recurrent respiratory infections, Bronchiolitis, Polydactyly, Recurrent oti... |
OMIM:615993 |
Immunodeficiency 27A |
|
Increased inflammatory response, Abnormal bronchus physiology, Rheumatoid factor positive, Pneumo... |
OMIM:209950 |
Atrial Fibrillation, Familial, 10 |
|
Right ventricular dilatation, Left ventricular hypertrophy, Left atrial enlargement |
OMIM:614022 |
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome |
|
Pleuritis, Lumbar hyperlordosis, Pericarditis, Mitral valve prolapse |
ORPHA:2848 |
Boomerang Dysplasia |
|
Omphalocele, Finger syndactyly, Abnormal morphology of the radius, Abnormal morphology of ulna, M... |
ORPHA:1263 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Respiratory distress, Facial palsy, Polyhydramnios, Respiratory insufficiency due to muscle weakn... |
OMIM:300580 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Interstitial emphysema, Bronchiectasis, Dilatation of the renal pelvis, Knee flexion contracture,... |
OMIM:619708 |
Postaxial Acrofacial Dysostosis |
|
Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Supernumerary nipple, Micrognathi... |
OMIM:263750 |
Lowry-Maclean Syndrome |
|
Osteopenia, Inguinal hernia, Craniosynostosis, Congenital diaphragmatic hernia, Osteoporosis, Coa... |
ORPHA:2409 |
Distal Duplication 5Q |
|
Hypoplasia of the ulna, Micrognathia, Absent thumb, Hypoplasia of the radius, Hernia, Brachydactyly |
ORPHA:96097 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Multiple rib fractures, Short femur, Ventricular septal defect, Fractured radius, Microcephaly, C... |
OMIM:616897 |
Diamond-Blackfan Anemia 10 |
|
Respiratory distress, Ventricular septal defect, Congenital diaphragmatic hernia, Morgagni diaphr... |
OMIM:613309 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski |
|
Recurrent respiratory infections, Short toe, Abnormal long bone morphology, Abnormal pelvic girdl... |
OMIM:259270 |
Aortic Arch Interruption |
|
Respiratory distress, Bicuspid aortic valve, Tachypnea, Aortic valve atresia, Pedal edema, Aortop... |
ORPHA:2299 |
Kaposiform Lymphangiomatosis |
|
Epidural hemorrhage, Abnormal lung morphology, Abnormal femur morphology, Abnormal form of the ve... |
ORPHA:464329 |
Oculopharyngodistal Myopathy 3 |
|
Internally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Dist... |
OMIM:619473 |
Complete Atrioventricular Septal Defect |
|
Hepatomegaly, Intercostal retractions, Crackles, Cardiomegaly, Complete atrioventricular canal de... |
ORPHA:1329 |
Axial Mesodermal Dysplasia Spectrum |
|
Omphalocele, Congenital diaphragmatic hernia, Short neck, Missing ribs, Abnormal rib morphology, ... |
ORPHA:1834 |
Fanconi Anemia, Complementation Group G |
|
Thrombocytopenia, Leukemia, Anemia, Neutropenia |
OMIM:614082 |
Oculofaciocardiodental Syndrome |
|
Patent ductus arteriosus, Mitral valve prolapse, Abnormal cardiac septum morphology, Scoliosis, P... |
ORPHA:2712 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, I... |
OMIM:150550 |
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Dry hair, Tapered finger, Short 3rd toe, Short thumb, Split hand, Low anterior hairline, Intrinsi... |
OMIM:618569 |
Ciliary Dyskinesia, Primary, 28 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... |
OMIM:615505 |
Sarcoidosis |
|
Abnormal lung morphology, Increased T cell count, Uveitis, Nephrocalcinosis, Tubulointerstitial n... |
ORPHA:797 |
Immunodeficiency 62 |
|
Autoimmune thrombocytopenia, Decreased proportion of memory B cells, Decreased circulating total ... |
OMIM:618459 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, T lymphocyt... |
OMIM:615513 |
Cardiofaciocutaneous Syndrome 2 |
|
Mitral valve prolapse |
OMIM:615278 |
Thanatophoric Dysplasia |
|
Polyhydramnios, Joint stiffness, Abnormal sacroiliac joint morphology, Patent ductus arteriosus, ... |
ORPHA:2655 |
Meacham Syndrome |
|
Bicuspid aortic valve, Scimitar anomaly, Atrial septal defect, Diaphragmatic eventration, Neonata... |
OMIM:608978 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Brachydactyly, Type B1 |
|
Type B brachydactyly, Syndactyly, Hypoplastic sacrum, Aplasia/Hypoplasia of the distal phalanges ... |
OMIM:113000 |
13Q12.3 Microdeletion Syndrome |
|
Recurrent respiratory infections, Kyphoscoliosis, Congenital diaphragmatic hernia, Atopic dermati... |
ORPHA:412035 |
Acrorenal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Absent nipple, Congenital diaphragm... |
OMIM:200980 |
Dihydropyrimidinase Deficiency |
|
Short phalanx of finger, Talipes equinovarus |
OMIM:222748 |
Seckel Syndrome 9 |
|
Recurrent respiratory infections, Ventricular septal defect, Polyhydramnios, Congenital diaphragm... |
OMIM:616777 |
Bethlem Myopathy 2 |
|
Myopathy, Scapular winging, Flexion contracture, Increased variability in muscle fiber diameter |
OMIM:616471 |
Jeune Syndrome |
|
Abnormal clavicle morphology, Toe syndactyly, Postaxial hand polydactyly, Short thorax, Abnormal ... |
ORPHA:474 |
X-Linked Centronuclear Myopathy |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Recurrent respiratory i... |
ORPHA:596 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Micrognathia, Short palm, Duplication of the distal phalanx of hand, Dislocated radial head, Radi... |
OMIM:268310 |
Martsolf Syndrome 1 |
|
Pes planus, Short metacarpal, Inguinal hernia, Micrognathia, Metatarsus adductus, Slender ulna, S... |
OMIM:212720 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Dysplastic iliac wing, Metaphyseal spurs, Micromelia, Bowing of the legs, Metaphyseal widening, S... |
OMIM:608728 |
Von Willebrand Disease |
|
Venous insufficiency, Abnormal mitral valve morphology |
ORPHA:903 |
Acrootoocular Syndrome |
|
Short metacarpal, Small hypothenar eminence, Sandal gap, Abnormal finger flexion crease, Decrease... |
ORPHA:2980 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase... |
OMIM:616689 |
Isolated Klippel-Feil Syndrome |
|
Ventricular septal defect, Short neck, Abnormal sacrum morphology, Abnormal rib morphology, Abnor... |
ORPHA:2345 |
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality |
|
Mitral valve prolapse |
OMIM:225310 |
Nemaline Myopathy 2 |
|
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Thenar muscle atrophy, Fatty replacement ... |
OMIM:256030 |
Anonychia-Onychodystrophy With Hypoplasia Or Absence Of Distal Phalanges |
|
Shortening of all distal phalanges of the toes, Shortening of all distal phalanges of the fingers... |
OMIM:106995 |
Body Mass Index Quantitative Trait Locus 19 |
|
Hyperinsulinemia, Polyphagia, Increased serum leptin, Obesity |
OMIM:617885 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory distress, Skeletal muscle atrophy, Spinal muscular atrophy, Respiratory insufficiency... |
ORPHA:254875 |
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy |
|
Apnea, Type 1 muscle fiber predominance, Chronic otitis media, Increased variability in muscle fi... |
OMIM:612949 |
Werner Syndrome |
|
Sparse scalp hair, Skeletal muscle atrophy, Rocker bottom foot, Abnormal hair whorl, Pulmonary ar... |
ORPHA:902 |
Roifman-Chitayat Syndrome |
|
Cone-shaped epiphysis, Umbilical hernia, Short metacarpal, Short metatarsal |
OMIM:613328 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Radial bowing, Rhizomelia, Ulnar bowing, Flared metaphysis, Coxa vara, Tibial bowing, Femoral bow... |
OMIM:602111 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Recurrent bacterial skin infections, Recurrent respiratory infections, Pneumonia, Asthma, Increas... |
ORPHA:217390 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Hyperlordosis, Pectus carinatum, Mitral valve prolapse, Scoliosis, Atrial septal defect |
OMIM:300986 |
Atrial Septal Defect, Coronary Sinus Type |
|
Bundle branch block, Right ventricular dilatation, Unroofed coronary sinus, Anomalous pulmonary v... |
ORPHA:99104 |
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Abnormal rib morphology |
ORPHA:2435 |
Gm1-Gangliosidosis, Type Iii |
|
Skeletal muscle atrophy, Kyphosis, Platyspondyly, Flared iliac wing, Scoliosis, Anterior beaking ... |
OMIM:230650 |
Trim32-Related Limb-Girdle Muscular Dystrophy R8 |
|
Proximal muscle weakness in lower limbs, Myopathy, Increased variability in muscle fiber diameter |
ORPHA:1878 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Pulmonary embolism, Respiratory tract infe... |
ORPHA:567548 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6 |
|
Respiratory distress, Skeletal muscle atrophy, Paradoxical respiration, Plantar flexion contractu... |
OMIM:620011 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Pancytopenia, Proteinuria, Polyuria, Renal salt wasting, Thrombocytopenia, Chronic kidney disease... |
OMIM:613845 |
Myopathic Ehlers-Danlos Syndrome |
|
Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Micrognathia... |
ORPHA:536516 |
Microcephaly-Albinism-Digital Anomalies Syndrome |
|
Micrognathia, Short distal phalanx of finger, Aplasia/Hypoplasia of the distal phalanges of the toes |
ORPHA:2513 |
Severe X-Linked Mitochondrial Encephalomyopathy |
|
Respiratory distress, Skeletal muscle atrophy, Increased connective tissue, Respiratory insuffici... |
ORPHA:238329 |
Transcobalamin Deficiency |
|
Pancytopenia, Lymphopenia, Thrombocytopenia, Neutropenia |
ORPHA:859 |
Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... |
ORPHA:846 |
Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Lymphopenia, Eosinophilia |
ORPHA:2582 |
Ciliary Dyskinesia, Primary, 41 |
|
Recurrent otitis media, Impaired nasal mucociliary clearance, Bronchiectasis, Recurrent sinusitis |
OMIM:618449 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... |
ORPHA:66628 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Atrophic gastritis, Pure red cell aplasia, Inflammation of the large intestine, Decreased circula... |
ORPHA:436159 |
Chromosome 18Q Deletion Syndrome |
|
Proximal placement of thumb, Short neck, Atrial septal defect, Dysplastic aortic valve, Joint lax... |
OMIM:601808 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia |
DECIPHER:16 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Double outlet left ventricle, Inguinal hernia, Ventricular septal defect, Congenital diaphragmati... |
OMIM:600001 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Osteopenia, Thoracic scoliosis, Widened atrophic scar, Equinus calcaneus, Prominent veins on trun... |
ORPHA:536532 |
Asplenia, Isolated Congenital |
|
Asplenia, Thrombocytosis, Howell-Jolly bodies |
OMIM:271400 |
Wrinkly Skin Syndrome |
|
Osteopenia, Recurrent sinopulmonary infections, Decreased muscle mass, Inguinal hernia, Lipodystr... |
ORPHA:2834 |
Marinesco-Sjogren Syndrome |
|
Pes planus, Short metacarpal, Coxa valga, Flexion contracture, Short metatarsal, Cubitus valgus |
OMIM:248800 |
Melnick-Needles Syndrome |
|
Narrow chest, Anisospondyly, Short thorax, Abnormal rib morphology, Respiratory insufficiency, Co... |
ORPHA:2484 |
Serkal Syndrome |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Pulmonary hypoplasia, Pulmonic stenos... |
ORPHA:139466 |
Spastic Paraplegia 18B, Autosomal Recessive |
|
Skeletal muscle atrophy, Kyphosis, Scoliosis, Joint contracture, Lower limb muscle weakness |
OMIM:611225 |
Cardiomyopathy, Dilated, 3B |
|
Increased variability in muscle fiber diameter |
OMIM:302045 |
Systemic Capillary Leak Syndrome |
|
Pericarditis, Renal insufficiency, Abnormal renal tubule morphology, Rhinorrhea, Myocarditis, Leu... |
ORPHA:188 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Myopathy, Limb-girdle muscular dystrophy, Increased variability in muscle fiber diameter, Rimmed ... |
OMIM:612937 |
Frontometaphyseal Dysplasia |
|
Single transverse palmar crease, Limited elbow movement, Micrognathia, Metaphyseal widening, Shor... |
ORPHA:1826 |
Myopathy, Myofibrillar, 2 |
|
Limb-girdle muscle weakness, Quadriceps muscle weakness, Skeletal muscle autophagosome accumulati... |
OMIM:608810 |
Idiopathic/Heritable Pulmonary Arterial Hypertension |
|
Right ventricular dilatation, Hepatomegaly, Pulmonary arterial hypertension, Dyspnea |
ORPHA:422 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Arachnodactyly, Polyhydramnios, Missing r... |
ORPHA:2759 |
Myopathy, Centronuclear, 4 |
|
Type 1 muscle fiber predominance, Centrally nucleated skeletal muscle fibers |
OMIM:614807 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Torticollis, Abnormal muscle fiber morphology, Flexion contracture, Elbow flexion contracture, Kn... |
ORPHA:75840 |
Poland Syndrome |
|
Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Short neck, Aplasia of the pect... |
ORPHA:2911 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Autoimmunity... |
OMIM:617006 |
Ciliary Dyskinesia, Primary, 11 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... |
OMIM:612649 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Pulmonary artery stenosis, Bilateral ... |
OMIM:611812 |
Brittle Cornea Syndrome 1 |
|
Mitral valve prolapse, Scoliosis, Spondylolisthesis |
OMIM:229200 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Neonatal respiratory distress, Apnea, Dyspnea, Desquamative interstitial pneumonitis, Tachypnea, ... |
OMIM:265120 |
Timothy Syndrome |
|
Prolonged QT interval, Ventricular septal defect, Pneumonia, Bronchitis, Cardiomegaly, Patent duc... |
OMIM:601005 |
Achondrogenesis Type 1B |
|
Femoral hernia, Polyhydramnios, Short neck, Abnormal enchondral ossification, Short thorax, Abnor... |
ORPHA:93298 |
Criss-Cross Heart |
|
Ventricular septal defect, Tricuspid stenosis, Abnormal thorax morphology, Transposition of the g... |
ORPHA:1461 |
Primary Effusion Lymphoma |
|
Pericardial effusion, Dyspnea, Pleural effusion |
ORPHA:48686 |
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome |
|
Metaphyseal dysplasia, Broad tibial metaphyses, Equinovarus deformity, Bowing of the legs, Metaph... |
ORPHA:2502 |
Sialidosis Type 2 |
|
Skeletal muscle atrophy, Inguinal hernia, Kyphosis, Dyspnea, Short thorax, Osteoporosis, Hydrops ... |
ORPHA:87876 |
Adult Acute Respiratory Distress Syndrome |
|
Shock, Pneumonia, Dyspnea, Vasculitis, Hypoxemia, Respiratory failure, Abnormal blood gas level, ... |
ORPHA:70578 |
Familial Isolated Restrictive Cardiomyopathy |
|
Orthopnea, Recurrent respiratory infections, Tricuspid regurgitation, Atrial fibrillation, Left a... |
ORPHA:75249 |
Slc35A2-Cdg |
|
Limb joint contracture, Camptodactyly of finger, Abnormality of the hand, Coxa valga, Metatarsus ... |
ORPHA:356961 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Hydroureter, Patent foramen ovale, Synophrys, Patent ductus arteriosus, Hypertrophy of the urinar... |
ORPHA:280633 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... |
OMIM:615631 |
Tracheobronchomegaly |
|
Recurrent bronchopulmonary infections, Bronchiectasis |
OMIM:275300 |
Nemaline Myopathy 5C, Autosomal Dominant |
|
Skeletal muscle atrophy, Scapular winging, Quadriceps muscle weakness, Achilles tendon contractur... |
OMIM:620389 |
Cantu Syndrome |
|
Ovoid vertebral bodies, Bicuspid aortic valve, Broad hallux, Curly eyelashes, Cardiomegaly, Peric... |
OMIM:239850 |
Neonatal Alloimmune Neutropenia |
|
Antineutrophil antibody positivity, Neutropenia in presence of anti-neutropil antibodies, Pneumonia |
ORPHA:464370 |
Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Skin rash, Pneumonia, Eosinophi... |
ORPHA:911 |
Zaki Syndrome |
|
Sacral dimple, Toe syndactyly, Congenital diaphragmatic hernia, Long fingers, Patent ductus arter... |
OMIM:619648 |
Poland Syndrome |
|
Unilateral absence of pectoralis major muscle, Dextrocardia, Unilateral hypoplasia of pectoralis ... |
OMIM:173800 |
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Respiratory distress, Skeletal muscle atrophy, Thoracic scoliosis, Cerebral hemorrhage, Abnormali... |
OMIM:620278 |
Ciliary Dyskinesia, Primary, 7 |
|
Recurrent pneumonia, Decreased nasal nitric oxide, Bronchiectasis, Restrictive ventilatory defect... |
OMIM:611884 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy |
OMIM:618852 |
Autoimmune Lymphoproliferative Syndrome |
|
Rheumatoid factor positive, Increased circulating IgG level, Lymphocytosis, Increased B cell coun... |
ORPHA:3261 |
Neu-Laxova Syndrome |
|
Skeletal muscle atrophy, Microcephaly, Abnormal eyelash morphology, Abnormal hair morphology, Mic... |
ORPHA:2671 |
Glycogen Storage Disease Ixd |
|
Skeletal muscle atrophy, Glycogen accumulation in muscle fiber lysosomes, Quadriceps muscle weakn... |
OMIM:300559 |
Tularemia |
|
Respiratory distress, Brain abscess, Skin rash, Pneumonia, Erythema nodosum, Thrombocytopenia, Le... |
ORPHA:3392 |
Atypical Werner Syndrome |
|
Skeletal muscle atrophy, Micrognathia, Abnormal hair whorl, Premature graying of hair, Finger cli... |
ORPHA:79474 |
Cardiac Septal Defects With Coarctation Of The Aorta |
|
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta |
OMIM:212090 |
Diaphanospondylodysostosis |
|
Delayed vertebral ossification, Respiratory distress, Absent in utero ossification of vertebral b... |
OMIM:608022 |
10Q22.3Q23.3 Microduplication Syndrome |
|
Abnormal clavicle morphology, Tetralogy of Fallot, Abnormal rib morphology |
ORPHA:276422 |
Parastremmatic Dwarfism |
|
Bowing of the long bones, Short neck, Kyphosis, Flexion contracture, Genu valgum, Scoliosis |
OMIM:168400 |
Microcephaly-Capillary Malformation Syndrome |
|
Atrial septal defect, Ventricular septal defect, Abnormal hair whorl, Vesicoureteral reflux, Pate... |
OMIM:614261 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Respiratory distress, Distal amyotrophy, Kyphoscoliosis |
OMIM:619099 |
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
|
Short metacarpal, Short fourth metatarsal, Overlapping toe, Femoral bowing, Narrow pelvis bone, S... |
OMIM:616723 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Hallux valgus, Dislocation of toes, Congenital hip dislocation, Left atr... |
OMIM:300280 |
Horizontal Gaze Palsy With Progressive Scoliosis |
|
Kyphosis, Scoliosis, Short neck |
ORPHA:2744 |
Spondylometaphyseal Dysplasia, Axial |
|
Anterior rib cupping, Proximal femoral metaphyseal irregularity, Recurrent pneumonia, Coxa vara, ... |
OMIM:602271 |
Autosomal Dominant Spondylocostal Dysostosis |
|
Recurrent respiratory infections, Hyperlordosis, Short neck, Missing ribs, Abnormal sacrum morpho... |
ORPHA:1797 |
Congenital Pulmonary Lymphangiectasia |
|
Respiratory distress, Tricuspid regurgitation, Congestive heart failure, Chronic pulmonary obstru... |
ORPHA:2414 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased proportion of CD4-positive T cells, Recurrent respiratory infections, Autoimmune thromb... |
OMIM:300853 |
Pseudoxanthoma Elasticum |
|
Accelerated atherosclerosis, Mitral valve prolapse, Stroke, Restrictive cardiomyopathy, Mitral st... |
OMIM:264800 |
Immunodeficiency 102 |
|
Leukopenia, Decreased circulating IgG level, Hepatomegaly, Partial absence of specific antibody r... |
OMIM:301082 |
Von Willebrand Disease, Type 1 |
|
Aortic valve stenosis, Mitral valve prolapse, Gastrointestinal angiodysplasia |
OMIM:193400 |
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
|
Short metacarpal, Brachydactyly, Rhizomelia, Hypoplastic sacrum, Short metatarsal, Small hand, Co... |
OMIM:614813 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Skeletal muscle atrophy, Recurrent fractures, Polyhydramnios, Short neck, Limitation of joint mob... |
ORPHA:1486 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Central apnea, Skeletal muscle atrophy, Sacral dimple, Multiple joint contractures, Congenital hi... |
OMIM:618291 |
Hyperparathyroidism, Transient Neonatal |
|
Osteopenia, Respiratory distress, Inguinal hernia, Short femur, Metaphyseal spurs, Polyhydramnios... |
OMIM:618188 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... |
ORPHA:179494 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Scapular winging, Pectus excavatum, Kyphosis, Mitral valve prolapse, Aortic root aneurysm, Narrow... |
OMIM:616914 |
Infantile Osteopetrosis With Neuroaxonal Dysplasia |
|
Pneumonia |
ORPHA:85179 |
Autosomal Dominant Spastic Paraplegia Type 4 |
|
Urinary urgency, Distal amyotrophy, Leg muscle stiffness, Urinary bladder sphincter dysfunction, ... |
ORPHA:100985 |
Spondyloepiphyseal Dysplasia Congenita |
|
Barrel-shaped chest, Respiratory distress, Lumbar hyperlordosis, Ovoid vertebral bodies, Limited ... |
OMIM:183900 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Scapular winging, Pelvic girdle muscle atrophy, Pelvic girdle amyotrophy, Facial palsy, Myopathy,... |
OMIM:167320 |
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
|
Overlapping toe, Kyphosis, Short thumb, Camptodactyly, Clinodactyly of the 5th finger, Arrhythmia |
OMIM:618453 |
Codas Syndrome |
|
Short metacarpal, Congenital hip dislocation, Abnormal dental enamel morphology, Abnormal pelvic ... |
ORPHA:1458 |
Opitz Gbbb Syndrome |
|
Omphalocele, Inguinal hernia, Ventricular septal defect, Craniosynostosis, Tracheomalacia, Congen... |
ORPHA:2745 |
Autosomal Dominant Coarctation Of Aorta |
|
Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m... |
ORPHA:1455 |
Arthrogryposis, Distal, Type 3 |
|
Congenital hip dislocation, Overlapping toe, Camptodactyly of finger, Down-sloping shoulders, Sin... |
OMIM:114300 |
Noonan Syndrome 3 |
|
Ventricular septal defect, Pectus excavatum, Patent ductus arteriosus, Pectus carinatum, Shield c... |
OMIM:609942 |
Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... |
ORPHA:2585 |
Thanatophoric Dysplasia Type 2 |
|
Polyhydramnios, Kyphosis, Patent ductus arteriosus, Short thorax, Increased nuchal translucency, ... |
ORPHA:93274 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Fluctuating splenomegaly, Bronchiectasi... |
OMIM:619220 |
Polycythemia Vera |
|
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... |
OMIM:263300 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Reduced natural killer cell count, Neutropenia |
OMIM:615214 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Recurrent respiratory infections, Polyhydramnios, Lateral clavicle hook, Respiratory insufficienc... |
OMIM:615633 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Iliac crest serration, Cardiomegaly, Wide distal femoral metaphysis, Short neck, Delayed epiphyse... |
OMIM:613320 |
Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Toe clinodactyly, Arachnodactyly, Pectus excavatum, Secundum atrial septal defect, Pectus carinat... |
OMIM:619910 |
Thrombocytopenia 5 |
|
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... |
OMIM:616216 |
Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis |
ORPHA:66661 |
Ophthalmomandibulomelic Dysplasia |
|
Camptodactyly of finger, Micromelia, Elbow dislocation, Symphalangism affecting the phalanges of ... |
ORPHA:2741 |
Lethal Congenital Contracture Syndrome 10 |
|
Omphalocele, Thoracic scoliosis, Overriding aorta, Ventricular septal defect, Torticollis, Overla... |
OMIM:617022 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu... |
OMIM:300835 |
Severe Congenital Nemaline Myopathy |
|
Skeletal muscle atrophy, Facial palsy, Polyhydramnios, Edema of the dorsum of hands, Increased co... |
ORPHA:171430 |
Atrial Septal Defect, Ostium Secundum Type |
|
Bundle branch block, First degree atrioventricular block, Pedal edema, Right ventricular dilatati... |
ORPHA:99103 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Joint laxity, Ventricular septal defect, Arachnodactyly, Pectus excavatum, Pectus carinatum, Aort... |
OMIM:301039 |
Atrial Septal Defect, Ostium Primum Type |
|
Recurrent respiratory infections, Left atrial enlargement, Dyspnea, Tachypnea, Abnormal respirato... |
ORPHA:99106 |
Congenital Myopathy 5 With Cardiomyopathy |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopa... |
OMIM:611705 |
Sandhoff Disease, Infantile Form |
|
Cherry red spot of the macula, Mitral valve prolapse |
ORPHA:309155 |
Amish Nemaline Myopathy |
|
Hip contracture, Shoulder flexion contracture, Proximal amyotrophy, Type 1 muscle fiber predomina... |
ORPHA:98902 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Polyhydramnios, Edema, Flex... |
ORPHA:98905 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Metaphyseal dysplasia, Radial bowing, Broad hallux, Bowed humerus, Rhizomelia, Limited elbow exte... |
OMIM:618019 |
Ciliary Dyskinesia, Primary, 24 |
|
Neonatal respiratory distress, Chronic pulmonary obstruction, Decreased nasal nitric oxide, Bronc... |
OMIM:615481 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2 |
|
Skeletal muscle atrophy, Myositis, Centrally nucleated skeletal muscle fibers, Myopathy, Muscle f... |
OMIM:615422 |
Alport Syndrome |
|
Dyspnea, Renal glomerular foam cells, Stridor, Hypertension, Abnormal aortic morphology, Cough, N... |
ORPHA:63 |
Achondroplasia |
|
Respiratory distress, Limited hip extension, Polyhydramnios, Bowing of the legs, Generalized join... |
OMIM:100800 |
Tonne-Kalscheuer Syndrome |
|
Pulmonary hypoplasia, Congenital diaphragmatic hernia, Abnormal heart morphology |
OMIM:300978 |
Phenobarbital Embryopathy |
|
Abnormal mitral valve morphology, Tetralogy of Fallot |
ORPHA:1919 |
Immunodeficiency 32B |
|
Recurrent respiratory infections, Hepatomegaly, Sinusitis, Neutrophilia, Pneumonia, Eosinophilia,... |
OMIM:226990 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Recurrent respiratory infections, Osteomyelitis, Skin rash, Eczema, Eosinophilia, Pruritus, Atele... |
ORPHA:2314 |
Immunodeficiency 110 With Lymphoproliferation |
|
Autoimmune hemolytic anemia, Recurrent skin infections, Secundum atrial septal defect, Recurrent ... |
OMIM:614868 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
Patent foramen ovale, Mitral valve prolapse |
OMIM:615539 |
Mycophenolate Mofetil Embryopathy |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Hydrops fetalis, Coarctation of aorta... |
ORPHA:268249 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Hepatomegaly, Crackles, Atelectasis, Dyspnea, Asthma, Wheezing, Bronchiectasis, Abnormal pulmonar... |
OMIM:620233 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Short metacarpal, Toe syndactyly, Scapular winging, Micrognathia, Short metatarsal, Small hand, S... |
OMIM:170390 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Right ventricular dilatation, Hypertrophic cardiomyopathy, Bronchiectasis |
OMIM:619705 |
Cohen Syndrome |
|
Pes planus, Short metacarpal, Single transverse palmar crease, Tapered finger, Micrognathia, Shor... |
OMIM:216550 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Short humerus, Short femur, Sandal gap, Rhizomelia, Hypoplasia of the radius, Talipes equinovarus... |
OMIM:607143 |
Congenital Heart Block |
|
First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Patent foramen ovale, C... |
ORPHA:60041 |
Lethal Congenital Contracture Syndrome 5 |
|
Polyhydramnios, Centrally nucleated skeletal muscle fibers, Flexion contracture, Subdural hemorrh... |
OMIM:615368 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Respiratory distress, Double outlet left ventricle, Ventricular septal defect, Congenital diaphra... |
ORPHA:2255 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Pneumonia, Purulent rhinitis, Arthritis, T lymphocytopenia, Conjunctivitis, B lymphocytopenia, Ot... |
OMIM:601457 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Abnormal eyebrow morphology, Alopecia, Aplasia/Hypoplasia of the clavicles, Absent eyelashes, Fle... |
ORPHA:90153 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Hyperlordosis, Arterial stenosis, Cerebral artery atherosclerosis, Abnormal mitral valve morpholo... |
ORPHA:1192 |
Myoclonic Epilepsy Associated With Ragged-Red Fibers |
|
Myopathy, Ragged-red muscle fibers |
OMIM:545000 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8 |
|
Distal lower limb amyotrophy, Hip contracture, Nonprogressive muscular atrophy, Spinal muscular a... |
OMIM:600175 |
Noonan Syndrome 14 |
|
Scapular winging, Short neck, Pectus excavatum, Kyphosis, Pectus carinatum, Mitral valve prolapse... |
OMIM:619745 |
Osteofibrous Dysplasia, Susceptibility To |
|
Pseudoarthrosis, Fibular hypoplasia |
OMIM:607278 |
Prune Belly Syndrome |
|
Recurrent respiratory infections, Congenital hip dislocation, Ventricular septal defect, Pectus e... |
ORPHA:2970 |
Oculopharyngodistal Myopathy 4 |
|
Autophagic vacuoles, Fatty replacement of skeletal muscle, Increased variability in muscle fiber ... |
OMIM:619790 |
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive |
|
Fiber type grouping, Distal lower limb muscle weakness, Interosseus muscle atrophy, Thenar muscle... |
OMIM:619903 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Respiratory insufficiency due to muscle weakness, Kyphosis, Scoliosis |
OMIM:617087 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory distress, Omphalocele, Syndactyly, Ventricular septal defect, Thoracic hypoplasia, Po... |
OMIM:617895 |
Spinal muscular atrophy, type I, with congenital bone fractures |
|
Osteopenia, Respiratory distress, Decreased muscle mass, Congenital hip dislocation, Arachnodacty... |
OMIM:271225 |
C Syndrome |
|
Omphalocele, Short metacarpal, Toe syndactyly, Micromelia, Micrognathia, Postaxial hand polydacty... |
OMIM:211750 |
Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Inguinal hernia, Kyphosis, Reduced bone mineral density, Pectus carinatum, Delayed ossification o... |
OMIM:618392 |
Myopathy And Diabetes Mellitus |
|
Respiratory distress, Distal lower limb amyotrophy, Achilles tendon contracture, Proximal amyotro... |
ORPHA:2596 |
15Q24 Microdeletion Syndrome |
|
Joint laxity, Congenital diaphragmatic hernia, Proximal placement of thumb, Abnormal thumb morpho... |
ORPHA:94065 |
Laing Early-Onset Distal Myopathy |
|
Toe extensor amyotrophy, Abnormality of the calf musculature, Proximal muscle weakness in lower l... |
ORPHA:59135 |
Farber Disease |
|
Respiratory distress, Skeletal muscle atrophy, CNS foam cells, Nodular pattern on pulmonary HRCT,... |
ORPHA:333 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
Laron Syndrome |
|
Limb undergrowth, Short long bone |
OMIM:262500 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Recurrent sinopulmonary infections, Recurrent skin infections, Pneumonia,... |
ORPHA:486 |
Odontotrichoungual-Digital-Palmar Syndrome |
|
Single transverse palmar crease, Abnormality of hair texture, Short first metatarsal, Prominent i... |
OMIM:601957 |
Congenital Gerbode Defect |
|
Ventricular septal defect, Crackles, Dyspnea, Right atrial enlargement, Pulmonary arterial hypert... |
ORPHA:99095 |
Mucopolysaccharidosis Type 7 |
|
Recurrent respiratory infections, Anterior beaking of lower thoracic vertebrae, Inguinal hernia, ... |
ORPHA:584 |
Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Angulated muscle fibers, Centrally nucleated skeletal muscle fibers, Muscular dystrophy, Increase... |
OMIM:617066 |
Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... |
OMIM:254210 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Omphalocele, Inguinal hernia, Ventricular septal defect, Congenital diaphragmatic hernia, Patent ... |
OMIM:618454 |
Achondrogenesis Type 1A |
|
Multiple rib fractures, Femoral hernia, Recurrent fractures, Polyhydramnios, Short neck, Abnormal... |
ORPHA:93299 |
Whim Syndrome |
|
Sinusitis, Severe periodontitis, Pneumonia, Respiratory tract infection, Lymphadenitis, Atelectas... |
ORPHA:51636 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Aortic root aneurysm, Scoliosis, Mitral valve prolapse |
ORPHA:449291 |
Thoracoabdominal Syndrome |
|
Omphalocele, Ventral hernia, Congenital diaphragmatic hernia, Patent ductus arteriosus, Pulmonary... |
OMIM:313850 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Bulging epiphyses, Bowing of the long bones, Alopecia, Rickets of the lower limbs, Delayed epiphy... |
OMIM:600785 |
Emphysema, Congenital Lobar |
|
Respiratory distress |
OMIM:130710 |
Myopathy, Myofibrillar, 4 |
|
Myofibrillar myopathy, EMG: myopathic abnormalities, Autophagic vacuoles, Muscle fiber splitting |
OMIM:609452 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Chronic gastritis, Liver abscess, Cholangitis, Bronchitis, Cholecystitis, Decreased circulating I... |
ORPHA:183675 |
Noonan Syndrome 13 |
|
Short neck, Mitral valve prolapse, Enlarged thorax, Scoliosis, Atrial septal defect |
OMIM:619087 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3 |
|
Skeletal muscle hypertrophy, Calf muscle hypertrophy, Muscular dystrophy, Increased variability i... |
OMIM:613157 |
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome |
|
Varicose veins, Pulmonic stenosis, Aortic dissection, Bruising susceptibility, Vascular dilatation |
OMIM:618343 |
Mitochondrial Myopathy, Infantile, Transient |
|
Facial palsy, Ragged-red muscle fibers, Increased muscle lipid content, Increased muscle glycogen... |
OMIM:500009 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... |
ORPHA:766 |
Opsismodysplasia |
|
Short metacarpal, Rhizomelia, Hypoplasia of the odontoid process, Squared iliac bones, Hypoplasti... |
OMIM:258480 |
Ciliary Dyskinesia, Primary, 26 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... |
OMIM:615500 |
Heterotaxy, Visceral, 8, Autosomal |
|
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Aortopulmonary collater... |
OMIM:617205 |
Transaldolase Deficiency |
|
Edema, Hydrops fetalis, Abnormal respiratory system physiology, Telangiectasia, Coarctation of ao... |
ORPHA:101028 |
Postaxial Tetramelic Oligodactyly |
|
Abnormal finger morphology, Ectrodactyly, Oligodactyly, Abnormal metacarpal morphology |
ORPHA:2730 |
Atrial Septal Defect, Sinus Venosus Type |
|
Dyspnea, Anomalous pulmonary venous return, Right ventricular dilatation, Exertional dyspnea, Pul... |
ORPHA:99105 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Stridor, Respiratory failure, Paroxysmal dyspnea, Left ventricular hypertrophy, Hypertrophic card... |
ORPHA:444013 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Chronic oral candidiasis, Lymphopenia, Pneumonia, Eosinophilia, Recurrent pneumonia, Hepatitis, H... |
ORPHA:169160 |
Ciliary Dyskinesia, Primary, 30 |
|
Recurrent respiratory infections, Ventricular septal defect, Dextrocardia, Cough, Situs inversus ... |
OMIM:616037 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Respiratory distress, Crackles, Pericardial effusion, Dyspnea, Chronic pulmonary obstruction, Pne... |
ORPHA:411703 |
Mucolipidosis Iii Gamma |
|
Hyperlordosis, Short neck, Kyphosis, Pectus carinatum, Abnormal rib cage morphology, Scoliosis, A... |
OMIM:252605 |
Donnai-Barrow Syndrome |
|
Omphalocele, Umbilical hernia, Ventricular septal defect, Congenital diaphragmatic hernia |
ORPHA:2143 |
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Hyperextensibility of the finger joints, Congenital hip dislocation, Apnea, Kyphosis, Patent duct... |
OMIM:619797 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Short neck, Atrioventricular block, Decreased cervical spine flexion due to contractur... |
ORPHA:98863 |
Spondyloepiphyseal Dysplasia Tarda |
|
Back pain, Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint... |
ORPHA:93284 |
Mucopolysaccharidosis-Plus Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Cerebral calcification, Short neck, Pectu... |
OMIM:617303 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type |
|
Abnormal metatarsal morphology, Delayed epiphyseal ossification, Generalized joint laxity, Abnorm... |
ORPHA:93360 |
Pneumocystosis |
|
Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Abnormal neutrophil... |
ORPHA:723 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Respiratory distress, Myositis, Anti-thyroid peroxidase antibody positivity, Tubulointerstitial n... |
ORPHA:37042 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Micrognathia, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification, Flexion con... |
OMIM:271640 |
Otopalatodigital Syndrome Type 1 |
|
Bowing of the long bones, Sandal gap, Short hallux, Proximal placement of thumb, Abnormality of t... |
ORPHA:90650 |
Distal Deletion 15Q |
|
Bicuspid aortic valve, Mitral atresia, Congenital diaphragmatic hernia, Double outlet right ventr... |
ORPHA:1596 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Respiratory distress, Ventricular septal defect, Patent ductus arteriosus, Postaxial hand polydac... |
ORPHA:2519 |
Adult-Onset Nemaline Myopathy |
|
Flexion contracture, Increased muscle lipid content, Upper limb muscle weakness, Myopathy, Type 1... |
ORPHA:171442 |
Congenital Myopathy With Myasthenic-Like Onset |
|
Scapular winging, Multiple joint contractures, Rhabdomyolysis, Myopathy, Type 1 muscle fiber pred... |
ORPHA:424107 |
Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ty... |
OMIM:605809 |
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Back pain, Enlarged epiphyses, Proximal placement of thumb, Short neck, Flexion contracture, Coxa... |
OMIM:613330 |
Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Neutrophilia, Pneumonia, Nonproductive cough, Dyspnea, Pneumothorax, Tachyp... |
ORPHA:36238 |
Antithrombin Iii Deficiency |
|
Arterial occlusion, Pulmonary embolism |
OMIM:613118 |
Orofaciodigital Syndrome Xviii |
|
Sandal gap, Single transverse palmar crease, Postaxial polydactyly, Preaxial polydactyly, Genu va... |
OMIM:617927 |
Diffuse Alveolar Hemorrhage |
|
Respiratory failure requiring assisted ventilation, Antiphospholipid antibody positivity, Protein... |
ORPHA:90060 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Neutropenia |
OMIM:610798 |
Pseudohypoparathyroidism, Type Ia |
|
Short metacarpal, Short toe, Short metatarsal, Short finger, Enamel hypoplasia, Brachydactyly |
OMIM:103580 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Respiratory failure requiring assisted ventilation, Thoracic aortic aneurysm, Patent ductus arter... |
OMIM:619351 |
Wiedemann-Steiner Syndrome |
|
Elbow hypertrichosis, Micrognathia, Synophrys, Clinodactyly of the 5th finger, Short phalanx of f... |
OMIM:605130 |
Congenital Disorder Of Glycosylation, Type Ie |
|
Respiratory distress, Short palm, Ankle flexion contracture, Patent ductus arteriosus, Small hand... |
OMIM:608799 |
Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Atrioventricular block, Decreased cervical spine flexion due to contractures of poster... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Atrioventricular block, Decreased cervical spine flexion due to contractures of poster... |
ORPHA:98853 |
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability |
|
Spinal rigidity, Hyperlordosis, Kyphosis, Respiratory insufficiency, Scoliosis |
OMIM:617404 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Increased circulating IgE level, Hypereosinophilia, Abnormal proportion of... |
OMIM:212050 |
Osteogenesis Imperfecta, Type Ii |
|
Crumpled long bones, Broad long bones, Nonimmune hydrops fetalis, Recurrent fractures, Beaded rib... |
OMIM:166210 |
Acute Lung Injury |
|
Shock, Respiratory distress, Acute pancreatitis, Pneumonia, Edema, Diffuse alveolar hemorrhage, D... |
ORPHA:178320 |
8P11.2 Deletion Syndrome |
|
Sacral dimple, Patent ductus arteriosus, Mitral valve prolapse, Supernumerary ribs, Atrial septal... |
ORPHA:251066 |
Myotubular Myopathy With Abnormal Genital Development |
|
Respiratory distress, Bifid scrotum, Hypospadias, Unilateral cryptorchidism, Centrally nucleated ... |
OMIM:300219 |
Intellectual Disability-Strabismus Syndrome |
|
Rocker bottom foot, Polyhydramnios, Short neck, Congenital diaphragmatic hernia, Patent ductus ar... |
ORPHA:363528 |
Congenital Myopathy 20 |
|
Skeletal muscle atrophy, Scapular winging, Elbow contracture, Centrally nucleated skeletal muscle... |
OMIM:620310 |
Nivelon-Nivelon-Mabille Syndrome |
|
Short metacarpal, Short phalanx of finger, Micromelia, Brachydactyly |
OMIM:600092 |
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures |
|
Respiratory distress, Joint contracture, Kyphoscoliosis |
OMIM:617977 |
Senior-Loken Syndrome 4 |
|
Stage 5 chronic kidney disease, Polyuria, Anemia, Nephronophthisis |
OMIM:606996 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Cerebral calcification, Increased intervertebral space, Metaphyseal widening, Irregular vertebral... |
OMIM:607944 |
Bernard-Soulier Syndrome |
|
Decreased platelet glycoprotein Ib-IX-V, Giant platelets, Macrothrombocytopenia, Impaired ristoce... |
ORPHA:274 |
Creatine Phosphokinase, Elevated Serum |
|
Abnormal muscle fiber morphology, Myopathy, Inflammatory myopathy, Muscular dystrophy, EMG: myopa... |
OMIM:123320 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Kyphosis, Hypoplasia of the odontoid process, Rib fusion, Vertebral segmentation defect, Scoliosi... |
OMIM:609813 |
Immunodeficiency 13 |
|
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... |
OMIM:615518 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Toe syndactyly, Thoracic aortic aneurysm, Ventricular septal defect, Dextrocardia, Patent ductus ... |
OMIM:619657 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, Lipodystrophy, Abnormal circulating IgM level, Increased circulating IgA... |
OMIM:618048 |
Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Neut... |
OMIM:618849 |
Fanconi Anemia, Complementation Group O |
|
Proximal placement of thumb, Absent thumb, Short thumb, Hypoplasia of the radius, Small thenar em... |
OMIM:613390 |
Ulnar-Mammary Syndrome |
|
Abnormal morphology of the radius, Camptodactyly of finger, Abnormality of the humerus, Postaxial... |
ORPHA:3138 |
Cardiac-Urogenital Syndrome |
|
Congenital diaphragmatic hernia, Atrial septal defect, Scimitar anomaly, Mesocardia, Prolonged bl... |
OMIM:618280 |
7Q11.23 Microduplication Syndrome |
|
Sacral dimple, Inguinal hernia, Ventricular septal defect, Craniosynostosis, Short neck, Pectus e... |
ORPHA:96121 |
Waardenburg Syndrome Type 3 |
|
Atrial septal defect, Camptodactyly of finger, Atelectasis, White hair, Tracheomalacia, Thick eye... |
ORPHA:896 |
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia |
|
Nail dystrophy, Alopecia totalis, Lack of skin elasticity |
ORPHA:1366 |
Idiopathic Neonatal Atrial Flutter |
|
Respiratory distress, Abnormal EKG, Abnormal atrioventricular conduction, Tachypnea, Hydrops feta... |
ORPHA:45452 |
Acrofacial Dysostosis, Palagonia Type |
|
Finger syndactyly, Sparse eyelashes, Micrognathia, Small hand, Low anterior hairline, Thin eyebro... |
ORPHA:1787 |
Acropectorovertebral Dysplasia |
|
Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Triphalangeal thumb, Synostosis of... |
ORPHA:957 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Uveitis, Inflammation of the large intestine, Colitis, Conjunctivitis, Decrea... |
OMIM:614700 |
Ciliary Dyskinesia, Primary, 14 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Cough, Situs inversus totalis, W... |
OMIM:613807 |
Kagami-Ogata Syndrome |
|
Omphalocele, Inguinal hernia, Long clavicles, Ventricular septal defect, Diastasis recti, Kyphosc... |
OMIM:608149 |
Meier-Gorlin Syndrome 6 |
|
Recurrent respiratory infections, Decreased response to growth hormone stimulation test, Cryptorc... |
OMIM:616835 |
Systemic Lupus Erythematosus |
|
Hemolytic anemia, Pericarditis, Antiphospholipid antibody positivity, Lupus nephritis, Antinuclea... |
OMIM:152700 |
Osteoglophonic Dysplasia |
|
Short metacarpal, Hypoplastic scapulae, Bowing of the long bones, Camptodactyly of finger, Rhizom... |
OMIM:166250 |
Lamellar Ichthyosis |
|
Recurrent respiratory infections, Lack of skin elasticity, Sparse hair, Dry skin, Aplasia/Hypopla... |
ORPHA:313 |
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Reduced vital capacity, Short neck, Kyphosis, Flexion contracture, Respiratory insufficiency, Bel... |
ORPHA:178148 |
Ciliary Dyskinesia, Primary, 1 |
|
Pneumonia, Asplenia, Atelectasis, Situs inversus totalis, Bronchiectasis, Immotile cilia, Chronic... |
OMIM:244400 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Anemia |
ORPHA:100024 |
Femoral-Facial Syndrome |
|
Inguinal hernia, Short femur, Micrognathia, Abnormal fibula morphology, Coxa vara, Abnormal pelvi... |
ORPHA:1988 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Psoriasiform dermatitis, Acne, Osteomyelitis, Edema, Skin rash, Abnormal sacroiliac joint morphol... |
ORPHA:324964 |
Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Recurrent respiratory infections, Short neck, Vertebral clefting, Hemivertebrae, Rib fusion, Vert... |
OMIM:608681 |
Otopalatodigital Syndrome, Type Ii |
|
Cryptorchidism, Respiratory insufficiency, Respiratory failure, Stillbirth, Atrial septal defect,... |
OMIM:304120 |
Frank-Ter Haar Syndrome |
|
Ventricular septal defect, Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Pectus excav... |
OMIM:249420 |
Ciliary Dyskinesia, Primary, 32 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, B... |
OMIM:616481 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Pneumonia, Recurrent upper respiratory tract infections, Decreased circulating antibody level, De... |
OMIM:614069 |
Tyrosinemia Type 1 |
|
Splenomegaly, Hepatomegaly, Hepatocellular carcinoma |
ORPHA:882 |
Pulmonary Edema Of Mountaineers, Susceptibility To |
|
Elevated pulmonary artery pressure, Edema, Pulmonary edema |
OMIM:178400 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hand muscle atrophy, Bicuspid aortic valve, Calcaneovalgus deformity, Pectus carinatum, Atrial se... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Hand muscle atrophy, Bicuspid aortic valve, Calcaneovalgus deformity, Pectus carinatum, Atrial se... |
ORPHA:363958 |
Muscular Dystrophy, Congenital Merosin-Deficient, 1A |
|
Increased endomysial connective tissue, Flexion contracture, Congenital muscular dystrophy |
OMIM:607855 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteopenia, Respiratory distress, Osteomyelitis, Skin rash, Pustule, Periostitis, Osteolysis, Fus... |
OMIM:612852 |
Avian Influenza |
|
Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Pneumothorax, Ta... |
ORPHA:454836 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Increased bone mineral density, Cerebral calcification, Facial palsy, Hyperlordosis, High iliac w... |
ORPHA:2780 |
Steinfeld Syndrome |
|
Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Missing ribs, Hypoplasia of the radius, ... |
OMIM:184705 |
Spastic Paraplegia 41, Autosomal Dominant |
|
Urinary urgency, Lower limb muscle weakness |
OMIM:613364 |
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay |
|
Mitral valve prolapse |
ORPHA:98 |
Thanatophoric Dysplasia Type 1 |
|
Bowing of the long bones, Short femur, Polyhydramnios, Joint stiffness, Hypoplastic ilia, Abnorma... |
ORPHA:1860 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Back pain, Vertebral fusion, Recurrent respiratory infections, Block vertebrae, Abnormal odontoid... |
OMIM:277300 |
Aymé-Gripp Syndrome |
|
Pericarditis, Inguinal hernia, Rocker bottom foot, Craniosynostosis, Congenital diaphragmatic her... |
ORPHA:1272 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4 |
|
Rhabdomyolysis, Skeletal muscle atrophy, Ragged-red muscle fibers |
OMIM:617070 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... |
OMIM:608203 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Omphalocele, Abnormal clavicle morphology, Bowing of the long bones, Ventricular septal defect, P... |
ORPHA:93267 |
Hughes-Stovin Syndrome |
|
Pulmonary embolism, Dyspnea, Vasculitis, Arterial stenosis, Pedal edema, Cardiorespiratory arrest... |
ORPHA:228116 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Inguinal hernia, Patent ductus arteriosus, Tachypnea, Coarctation of aorta, Bell-shaped thorax, A... |
OMIM:614857 |
Ventriculomegaly With Defects Of The Radius And Kidney |
|
Absent radius, Bowed forearm bones, Forearm undergrowth, Absent thumb |
OMIM:602200 |
Glanzmann Thrombasthenia 1 |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Impaired epinephrine-induced platelet aggre... |
OMIM:273800 |
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome |
|
Short metacarpal, Epiphyseal stippling, Talipes equinovarus, Arthrogryposis multiplex congenita, ... |
ORPHA:86822 |
Hereditary Bullous Dystrophy, Macular Type |
|
Alopecia, Congenital abnormal hair pattern, Pneumonia, External genital hypoplasia, Cryptorchidis... |
ORPHA:1867 |
Acrocephalopolydactyly |
|
Limb undergrowth, Short long bone, Genu recurvatum, Brachydactyly |
ORPHA:221054 |
Mucopolysaccharidosis, Type Vi |
|
Metaphyseal widening, Flexion contracture, Pectus carinatum, Hypoplastic iliac wing, Broad ribs, ... |
OMIM:253200 |
Osteomesopyknosis |
|
Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:2777 |
Classic Phenylketonuria |
|
Hypopigmentation of hair, Lack of skin elasticity, Microcephaly |
ORPHA:79254 |
Ispd-Related Limb-Girdle Muscular Dystrophy R20 |
|
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Scapular winging, Hypoglycosylation of al... |
ORPHA:352479 |
Winchester Syndrome |
|
Kyphosis, Osteolysis involving tarsal bones, Carpal osteolysis, Broad metacarpals, Generalized os... |
OMIM:277950 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Rheumatoid factor positive, Glomerulonephritis, Nodular pattern on pulmonary HRCT, ... |
ORPHA:99931 |
Relapsing Polychondritis |
|
Uveitis, Large vessel vasculitis, Conjunctivitis, Cough, Chondritis, Glomerulopathy, Alopecia, At... |
ORPHA:728 |
Desbuquois Dysplasia 1 |
|
Triangular shaped phalanges of the hand, Short neck, Osteoarthritis, Metaphyseal widening, Short ... |
OMIM:251450 |
Nance-Horan Syndrome |
|
Short metacarpal |
ORPHA:627 |
Immunodeficiency 75 With Lymphoproliferation |
|
Recurrent respiratory infections, Decreased proportion of class-switched memory B cells, Bronchie... |
OMIM:619126 |
Immunodeficiency 97 With Autoinflammation |
|
Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ... |
OMIM:619802 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Recurrent sinopulmonary infections, Atrophic gastritis, Autoimmune hemolytic anemia, Recurrent sk... |
OMIM:616576 |
Maxillonasal Dysplasia |
|
Mandibular prognathia, Aplasia/Hypoplasia of the distal phalanges of the toes, Hypoplasia of the ... |
ORPHA:1248 |
Ciliary Dyskinesia, Primary, 5 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Recurrent pneumonia, Bronchiecta... |
OMIM:608647 |
Sillence Syndrome |
|
Abnormal distal phalanx morphology of finger, Large tarsal bones, Metatarsus adductus, Chess-pawn... |
ORPHA:3168 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenomegaly, Decreased mean corpuscula... |
OMIM:616860 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Metaphyseal dysplasia, Short metacarpal, Sparse eyelashes, Micrognathia, Sparse eyebrow, Metaphys... |
OMIM:250410 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Microretrognathia, Omphalocele, Rhizomelia, Postaxial polydactyly, Sparse eyebrow, Squared iliac ... |
OMIM:616300 |
Blau Syndrome |
|
Pericarditis, Skin rash, Facial palsy, Camptodactyly of finger, Keratitis, Retrobulbar optic neur... |
ORPHA:90340 |
Acral Self-Healing Collodion Baby |
|
Palmoplantar scaling skin, Erythema, Lack of skin elasticity |
ORPHA:281127 |
Autosomal Recessive Spastic Paraplegia Type 76 |
|
Skeletal muscle atrophy, Functional abnormality of the bladder, Lower limb muscle weakness |
ORPHA:488594 |
Lymphatic Malformation 7 |
|
Respiratory distress, Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial eff... |
OMIM:617300 |
Fg Syndrome Type 1 |
|
Sacral dimple, Mitral valve prolapse, Coarctation of aorta, Abnormal sternum morphology, Atrial s... |
ORPHA:93932 |
Cardiospondylocarpofacial Syndrome |
|
Congenital diaphragmatic hernia, Pseudoepiphyses, Atrial septal defect, Patent foramen ovale, Joi... |
OMIM:157800 |
Fanconi Anemia, Complementation Group U |
|
Absent thumb, Absent radius, Hypoplasia of the radius, Aplasia of the 1st metacarpal, Absent scap... |
OMIM:617247 |
Congenital Myasthenic Syndromes With Glycosylation Defect |
|
Scapular winging, Facial palsy, Generalized weakness of limb muscles, Limb-girdle muscle weakness... |
ORPHA:353327 |
Ciliary Dyskinesia, Primary, 37 |
|
Dextrocardia, Situs inversus totalis, Goiter, Wheezing, Bronchiectasis, Right aortic arch, Chroni... |
OMIM:617577 |
Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Recurrent upper respiratory tract infections, Restrictive ventilatory defect, Interstitial pneumo... |
OMIM:620296 |
Severe Acute Respiratory Syndrome |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Acute infectio... |
ORPHA:140896 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Abnormal form of the vertebral bodies, Abnormal pelvic girdle bone morphology, Abnormal cardiac s... |
ORPHA:2370 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Cerebral vasculitis, Recurrent sinopulmonary infections, Eczema, Eosinophilic infiltration of the... |
OMIM:243700 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Osteopenia, Bicuspid aortic valve, Ventricular septal defect, Craniosynostosis, Increased nuchal ... |
ORPHA:453499 |
Mesomelia-Synostoses Syndrome |
|
Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat... |
OMIM:600383 |
Congenital Myopathy 22B, Severe Fetal |
|
Respiratory distress, Thoracic scoliosis, Polyhydramnios, Short neck, Flexion contracture, Genera... |
OMIM:620369 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Abnormal aortic morphology, Ventricular septal defect, Abnormal tricuspid valve morphology |
ORPHA:3405 |
Myasthenic Syndrome, Congenital, 12 |
|
Ragged-red muscle fibers, Facial palsy, Proximal amyotrophy |
OMIM:610542 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Lymphopenia, Recurrent skin infections, Asthma, Recurrent pneumonia, Increased circulating IgE le... |
OMIM:619752 |
Whim Syndrome 1 |
|
Recurrent upper respiratory tract infections, Bronchiectasis, Abnormal morphology of female inter... |
OMIM:193670 |
Thrombophilia Due To Thrombomodulin Defect |
|
Pulmonary embolism |
OMIM:614486 |
Greenberg Dysplasia |
|
Laryngeal calcification, Polyhydramnios, Beaded ribs, Multiple prenatal fractures, Patchy variati... |
OMIM:215140 |
Rhizomelic Syndrome, Urbach Type |
|
Abnormal hair quantity, Abnormality of the knee, Rhizomelia, Micrognathia, Abnormality of the hum... |
ORPHA:3098 |
Wolf-Hirschhorn Syndrome |
|
Hypoplastic pubic ramus, Congenital diaphragmatic hernia, Abnormal form of the vertebral bodies, ... |
ORPHA:280 |
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Rhabdomyolysis, Proximal mus... |
OMIM:620138 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:610293 |
Spherocytosis, Type 4 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis |
OMIM:612653 |
Cutis Laxa, Autosomal Recessive, Type Iid |
|
Reduced subcutaneous adipose tissue, Inguinal hernia, Hypoplastic right heart, Kyphoscoliosis, Co... |
OMIM:617403 |
Cardiomyopathy, Dilated, 1X |
|
Calf muscle hypertrophy, Increased variability in muscle fiber diameter |
OMIM:611615 |
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Metaphyseal dysplasia, Brachydactyly, Irregular iliac crest, Metaphyseal widening, Flat glenoid f... |
OMIM:250420 |
Aorta Coarctation |
|
Pseudocoarctation of the aorta, Bicuspid aortic valve, Cardiomegaly, Patent ductus arteriosus, Hy... |
ORPHA:1457 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Polyuria, Pericardial effusion, Cryptorchidism, Recurrent upper respiratory tract infections, Dec... |
OMIM:618183 |
Heterotaxy, Visceral, 5, Autosomal |
|
Atrial reentry tachycardia, Bilateral trilobed lung, Right atrial isomerism, Ventricular septal d... |
OMIM:270100 |
Chromosome 15Q25 Deletion Syndrome |
|
Inguinal hernia, Ventricular septal defect, Dextrocardia, Congenital diaphragmatic hernia, Short ... |
OMIM:614294 |
Intellectual Developmental Disorder With Short Stature, Facial Anomalies, And Speech Defects |
|
Microretrognathia, Short 4th metacarpal, Short clavicles |
OMIM:606220 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Short 5th metacarpal |
ORPHA:66518 |
Syndromic Diarrhea |
|
Hepatomegaly, Increased mean platelet volume, Splenomegaly, Abnormality of the liver, Hypoplasia ... |
ORPHA:84064 |
Right Atrial Isomerism |
|
Atrial septal defect, Right atrial isomerism, Ventricular septal defect, Aortopulmonary collatera... |
OMIM:208530 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
Right ventricular dilatation |
OMIM:615616 |
Dyggve-Melchior-Clausen Disease |
|
Glenoid fossa hypoplasia, Short neck, Coxa vara, Pectus carinatum, Broad ribs, Iliac crest serrat... |
ORPHA:239 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Respiratory distress, Cerebral calcification, Short neck, Flexion contracture, Pectus carinatum, ... |
ORPHA:505248 |
Ciliary Dyskinesia, Primary, 40 |
|
Reduced forced expiratory volume in one second, Situs inversus totalis, Reduced respiratory cilia... |
OMIM:618300 |
Typical Nemaline Myopathy |
|
Polyhydramnios, Short neck, Limb-girdle muscle weakness, Flexion contracture, Narrow chest, Type ... |
ORPHA:171436 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Osteopenia, Hallux valgus, Joint laxity, Contracture of the proximal interphalangeal joint of the... |
OMIM:130060 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Atrioventricular block, Decreased cervical spine flexion due to contractures of poster... |
ORPHA:98855 |
Coffin-Siris Syndrome 3 |
|
Inguinal hernia, Central diaphragmatic hernia, Abnormal heart morphology, Macroglossia, Umbilical... |
OMIM:614608 |
Blomstrand Lethal Chondrodysplasia |
|
Increased bone mineral density, Short metacarpal, Bowing of the long bones, Aplastic clavicle, Po... |
ORPHA:50945 |
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Recurrent respiratory infections, Eczema, Thoracolumbar scoliosis, Craniosynostosis, Keratitis, C... |
OMIM:618523 |
Omodysplasia 1 |
|
Short humerus, Increased fibular diameter, Rhizomelia, Micrognathia, Limited knee flexion, Limite... |
OMIM:258315 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Alopecia, Brittle hair, Decreased adipose tissue ar... |
OMIM:608612 |
Combined Oxidative Phosphorylation Deficiency 6 |
|
Skeletal muscle atrophy, Ragged-red muscle fibers |
OMIM:300816 |
Ciliary Dyskinesia, Primary, 15 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Cough, Wheezing, Recurrent pneum... |
OMIM:613808 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Cardiomyopathy, Scoliosis, Mitral valve prolapse |
OMIM:258450 |
Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Dyspnea, Respiratory failure, Short neck |
ORPHA:1832 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Ventricular septal defect, Sandal gap, Congenital diaphragmatic hernia, Pectus excavatum, 3-4 fin... |
OMIM:612530 |
Nestor-Guillermo Progeria Syndrome |
|
Limited elbow movement, Flexion contracture, Rib osteolysis, Atherosclerosis, Osteoporosis, Scoli... |
OMIM:614008 |
Teebi Hypertelorism Syndrome 1 |
|
Ventricular septal defect, Hydrocele testis, Aortic root aneurysm, Pulmonary hypoplasia, Atrial s... |
OMIM:145420 |
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Aplasia/Hypoplasia of the lungs, Inguinal hernia, Abnormal lung lobation, Congenital diaphragmati... |
ORPHA:2063 |
Adams-Oliver Syndrome 5 |
|
Hypersplenism, Splenomegaly, Umbilical hernia, Pulmonic stenosis, Right ventricular hypertrophy, ... |
OMIM:616028 |
Heterotaxy, Visceral, 12, Autosomal |
|
Dextrotransposition of the great arteries, Atrial septal defect, Pulmonary artery atresia, Patent... |
OMIM:619702 |
Congenital Fibrinogen Deficiency |
|
Hemorrhagic ovarian cyst, Splenic rupture, Left ventricular hypertrophy, Micropenis, Decreased te... |
ORPHA:335 |
Thrombophilia, X-Linked, Due To Factor Viii Defect |
|
Pulmonary embolism |
OMIM:301071 |
Baralle-Macken Syndrome |
|
Tapered finger, Microcephaly, Kyphosis, Hirsutism, Striae distensae |
OMIM:619255 |
Bethlem Myopathy |
|
Scapular winging, Multiple joint contractures, Reduced muscle collagen VI, Interphalangeal joint ... |
ORPHA:610 |
Combined Oxidative Phosphorylation Deficiency 51 |
|
Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia |
OMIM:619057 |
Immunodeficiency, Common Variable, 2 |
|
Hepatomegaly, Impaired T cell function, Autoimmunity, Splenomegaly, Recurrent pneumonia, Bronchie... |
OMIM:240500 |
Ledderhose Disease |
|
Lack of skin elasticity |
ORPHA:199251 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Lymphadenitis, Leukopenia, T lymphocytopenia, Neutropenia, Decreased circulating IgG level, Parti... |
OMIM:618986 |
Mucoepithelial Dysplasia, Hereditary |
|
Alopecia, Pneumonia, Eosinophilia, Recurrent pneumonia, Cor pulmonale, Chronic mucocutaneous cand... |
OMIM:158310 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... |
OMIM:618052 |
Chitayat Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Hallux valgus, Polyhydramnios, Pectus exc... |
OMIM:617180 |
Spondyloepiphyseal Dysplasia Congenita |
|
Back pain, Limited elbow movement, Short neck, Reduced bone mineral density, Barrel-shaped chest,... |
ORPHA:94068 |
Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge... |
OMIM:618773 |
Ghosal Hematodiaphyseal Dysplasia |
|
Craniofacial hyperostosis, Bowing of the long bones, Splenomegaly, Abnormal tibia morphology, Abn... |
ORPHA:1802 |
Cantú Syndrome |
|
Cardiomegaly, Short neck, Low anterior hairline, Narrow chest, Broad ribs, Generalized hirsutism,... |
ORPHA:1517 |
Vacterl/Vater Association |
|
Omphalocele, Finger syndactyly, Abnormal intervertebral disk morphology, Polyhydramnios, Congenit... |
ORPHA:887 |
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Respiratory distress |
ORPHA:171703 |
Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A... |
OMIM:601859 |
Spherocytosis, Type 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis |
OMIM:616649 |
Huriez Syndrome |
|
Dry skin, Lack of skin elasticity |
ORPHA:384 |
Phace Association |
|
Anomalous branches of internal carotid artery, Ventricular septal defect, Patent ductus arteriosu... |
OMIM:606519 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Omphalocele, Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Missing ribs, Abnormality o... |
ORPHA:3186 |
Lujo Hemorrhagic Fever |
|
Respiratory distress, Renal insufficiency, Skin rash, Maculopapular exanthema, Crackles, Microsco... |
ORPHA:319213 |
Kawasaki Disease |
|
Pericarditis, Abnormal heart valve morphology, Skin rash, Edema, Congestive heart failure, Myocar... |
ORPHA:2331 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Autoimmune hemolytic anemia, Eczema, Autoimmunity, Autoimmune thrombocytopenia, Desquamative inte... |
OMIM:615952 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Neutropenia, Absent circulating B cells, Abnormal T cell morphology |
OMIM:613501 |
Adult Idiopathic Neutropenia |
|
Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia |
ORPHA:2688 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Hallux valgus, Absent eyebrow, Short metacarpal, Alopecia, Inguinal hernia, Pes planus, Micrognat... |
ORPHA:166035 |
Mgat2-Cdg |
|
Osteopenia, Abnormal bleeding, Respiratory distress, Ventricular septal defect, Pectus excavatum,... |
ORPHA:79329 |
Immunodeficiency 60 And Autoimmunity |
|
Recurrent sinopulmonary infections, Pancytopenia, Splenomegaly, Perinuclear antineutrophil antibo... |
OMIM:618394 |
Ollier Disease |
|
Abnormal cartilage morphology, Skin ulcer, Multiple enchondromatosis, Platyspondyly, Abnormal met... |
ORPHA:296 |
Flynn-Aird Syndrome |
|
Skeletal muscle atrophy, Cerebral calcification, Joint stiffness, Kyphosis, Bone cyst, Scoliosis,... |
ORPHA:2047 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Microretrognathia, Hip contracture, Inguinal hernia, Pes planus, Coxa valga, Micrognathia, Advanc... |
OMIM:618363 |
Ullrich Congenital Muscular Dystrophy 1 |
|
Reduced muscle collagen VI, Distal joint laxity, Flexion contracture, Hyperextensibility at wrist... |
OMIM:254090 |
Lymphoid Interstitial Pneumonia |
|
Crackles, Cough, Decreased DLCO, Multiple pulmonary cysts, Hepatomegaly, Respiratory tract infect... |
ORPHA:79128 |
Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Centrally nucleated skeletal muscle fibers, Flexion contracture, Increased variability in muscle ... |
OMIM:618484 |
Bacterial Toxic-Shock Syndrome |
|
Respiratory distress, Fasciitis, Sinusitis, Myositis, Tachypnea, Increased circulating myelocyte ... |
ORPHA:36234 |
Thrombophilia Due To Protein C Deficiency, Autosomal Dominant |
|
Pulmonary embolism |
OMIM:176860 |
Seckel Syndrome 10 |
|
Ventricular hypertrophy, Acute pancreatitis, Congestive heart failure, Metaphyseal widening, Cone... |
OMIM:617253 |
Diabetic Embryopathy |
|
Ventricular septal defect, Abnormal sacrum morphology, Aplasia/Hypoplasia of the abdominal wall m... |
ORPHA:1926 |
Kniest Dysplasia |
|
Enlarged epiphyses, Abnormality of the epiphysis of the femoral head, Short neck, Delayed epiphys... |
ORPHA:485 |
Felty Syndrome |
|
Episcleritis, Recurrent respiratory infections, Pericarditis, Sinusitis, Hepatomegaly, Recurrent ... |
ORPHA:47612 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Joint laxity, Hyperextensibility of the finger joints, Ventricular septal defect, Arachnodactyly,... |
OMIM:309520 |
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Skeletal muscle atrophy, Muscular dystrophy, Increased variability in muscle fiber diameter, Prox... |
OMIM:614302 |
Type 1 Diabetes Mellitus |
|
Autoimmunity, Polyuria |
OMIM:222100 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Anemia, Hemophagocytosis, Thrombocytopenia |
OMIM:613101 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Right ventricular dilatation |
OMIM:618920 |
Coccidioidomycosis |
|
Respiratory distress, Abnormal long bone morphology, Cough, Morbilliform rash, Broad ribs, Vascul... |
ORPHA:228123 |
Codas Syndrome |
|
Omphalocele, Short humerus, Short metacarpal, Congenital hip dislocation, Metaphyseal dysplasia, ... |
OMIM:600373 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Unilateral lung agenesis, Hemivertebrae, Atrial septal defect, Emphysema, Lumbar hyperlordosis, A... |
ORPHA:500150 |
Osteogenesis Imperfecta, Type Iii |
|
Protrusio acetabuli, Severe generalized osteoporosis, Recurrent fractures, Multiple prenatal frac... |
OMIM:259420 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Type II pneumocyte hypertrophy, Desquamative interstitial pneumonitis, Recu... |
OMIM:263000 |
Ulnar Agenesis And Endocardial Fibroelastosis |
|
Hand oligodactyly, Aplasia of the ulna |
OMIM:276822 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Respiratory distress, Low-output congestive heart failure, Hypertrophic cardiomyopathy, Myopathy |
ORPHA:91130 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Hepatosp... |
ORPHA:169154 |
Myopathy, Myofibrillar, 7 |
|
Skeletal muscle atrophy, Multiple joint contractures, Increased Z-disc width, Facial palsy, Shoul... |
OMIM:617114 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis |
OMIM:619281 |
Ciliary Dyskinesia, Primary, 12 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Chronic ... |
OMIM:612650 |
Czeizel-Losonci Syndrome |
|
Posterolateral diaphragmatic hernia, Hitchhiker thumb, Dextrocardia, Thoracolumbar scoliosis, 2-3... |
ORPHA:2437 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibers, Elbow flexi... |
OMIM:618138 |
Septopreoptic Holoprosencephaly |
|
Abnormal rib morphology, Abnormal vertebral morphology, Coarctation of aorta |
ORPHA:280195 |
X-Linked Spastic Paraplegia Type 16 |
|
Functional abnormality of the bladder |
ORPHA:100997 |
Auriculoosteodysplasia |
|
Elbow dislocation, Hip dysplasia, Aplasia/Hypoplasia of the radius, Abnormal metacarpal morpholog... |
ORPHA:114 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Recurrent bacterial skin infections, Abnormally low T cell receptor excision circle level, Decrea... |
ORPHA:276 |
Hypotaurinemic Retinal Degeneration And Cardiomyopathy |
|
Dilated cardiomyopathy, Mitral valve prolapse |
OMIM:145350 |
Loeys-Dietz Syndrome 5 |
|
Decreased muscle mass, Osteoarthritis, Pectus carinatum, Atrial septal defect, Bilateral coxa val... |
OMIM:615582 |
Diamond-Blackfan Anemia 4 |
|
Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Neutropenia |
OMIM:612527 |
Fanconi Anemia, Complementation Group V |
|
Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia |
OMIM:617243 |
Purine Nucleoside Phosphorylase Deficiency |
|
Cerebral vasculitis, Autoimmune hemolytic anemia, Sinusitis, Recurrent urinary tract infections, ... |
OMIM:613179 |
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome |
|
Neonatal asphyxia, Bronchiectasis, Congenital laryngeal stridor |
ORPHA:2375 |
Cri-Du-Chat Syndrome |
|
Microretrognathia, Syndactyly, Short metacarpal, Inguinal hernia, Pes planus, Single transverse p... |
OMIM:123450 |
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Recurrent respiratory infections, Multiple joint contractures, Centrally nucleated skeletal muscl... |
ORPHA:486815 |
Atrial Standstill |
|
Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ... |
ORPHA:1344 |
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency |
|
Hypoplastic scapulae, Elbow flexion contracture, Short clavicles, Congenital diaphragmatic hernia |
OMIM:618022 |
Thrombocytopenia 1 |
|
Congenital thrombocytopenia, Decreased mean platelet volume, Intermittent thrombocytopenia |
OMIM:313900 |
Cardiomyopathy, Dilated, 1S |
|
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... |
OMIM:613426 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Respiratory distress, Flexion contracture, Hypertension, Pulmonary hypoplasia, Left ventricular h... |
OMIM:616733 |
Bardet-Biedl Syndrome 17 |
|
Polyuria, Dextrocardia, Situs inversus totalis, Stage 5 chronic kidney disease, Renal cyst, Hypog... |
OMIM:615994 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Micromelia, Bowing of the legs, Micrognathia, Triangular shaped distal phalanges of the hand, Abn... |
OMIM:271665 |
Ciliary Dyskinesia, Primary, 34 |
|
Neonatal respiratory distress, Reduced respiratory ciliary beating frequency, Bronchiectasis, Dec... |
OMIM:617091 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Relative macrocephaly, Distal lower limb amyotrophy, Mandibular prognathia, Sandal gap, Kyphosis,... |
OMIM:300354 |
Fusariosis |
|
Fasciitis, Sinusitis, Myositis, Abnormality of the spleen, Neutropenia, Brain abscess, Maculopapu... |
ORPHA:228119 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Antinuclear antibody ... |
OMIM:619375 |
Alagille Syndrome |
|
Clinodactyly of the 5th finger, Hypoplasia of the ulna, Micrognathia, Short distal phalanx of finger |
ORPHA:52 |
Paraparetic Variant Of Guillain-Barré Syndrome |
|
Recurrent acute respiratory tract infection, Urinary bladder sphincter dysfunction |
ORPHA:231445 |
Cocaine Embryofetopathy |
|
Short distal phalanx of finger |
ORPHA:1911 |
Classic Homocystinuria |
|
Gastrointestinal hemorrhage, Arachnodactyly, Recurrent fractures, Pulmonary embolism, Pectus exca... |
ORPHA:394 |
Portal Hypertension, Noncirrhotic, 1 |
|
Splenomegaly, Hepatomegaly, Portal hypertension |
OMIM:617068 |
Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Dyspnea, Tachypnea, Crescentic glomerulonephritis, Abnormal pulmonary interstitial morphology, Ar... |
OMIM:616414 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Hypertension, Arrhythmia, Abnormal aortic morphology, Cardiomyopathy |
ORPHA:3222 |
Oculocerebrocutaneous Syndrome |
|
Abnormal rib morphology, Congenital diaphragmatic hernia, Missing ribs |
ORPHA:1647 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
T lymphocytopenia, Lymphopenia |
OMIM:618309 |
Osteogenesis Imperfecta, Type Viii |
|
Short metacarpal, Radial bowing, Inguinal hernia, Femoral retroversion, Tibial bowing, Femoral bo... |
OMIM:610915 |
Holoprosencephaly |
|
Omphalocele, Ventricular septal defect, Abnormal pulmonary valve morphology, Congenital diaphragm... |
ORPHA:2162 |
Conotruncal Heart Malformations |
|
Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran... |
OMIM:217095 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Extramedullary hematopoiesis, Abnormality of thrombocytes, Splenomegaly, Leukocytos... |
OMIM:612840 |
Osteogenesis Imperfecta, Type Ix |
|
Short lower limbs, Recurrent fractures, Beaded ribs, Pectus excavatum, Kyphosis, Multiple prenata... |
OMIM:259440 |
Ciliary Dyskinesia, Primary, 35 |
|
Neonatal respiratory distress, Productive cough, Recurrent pneumonia, Decreased nasal nitric oxid... |
OMIM:617092 |
Pseudohypoparathyroidism, Type Ic |
|
Short metacarpal, Short metatarsal, Enamel hypoplasia, Brachydactyly |
OMIM:612462 |
Ciliary Dyskinesia, Primary, 45 |
|
Immotile cilia, Recurrent respiratory infections, Bronchiectasis, Chronic rhinitis |
OMIM:618801 |
Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ... |
OMIM:610338 |
Leopard Syndrome 1 |
|
Scapular winging, Kyphoscoliosis, Short neck, Missing ribs, Pectus excavatum, Complete atrioventr... |
OMIM:151100 |
Ciliary Dyskinesia, Primary, 17 |
|
Recurrent respiratory infections, Dextrocardia, Situs inversus totalis, Bronchiectasis, Chronic r... |
OMIM:614679 |
Cebalid Syndrome |
|
Congenital diaphragmatic hernia |
OMIM:618774 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Dextrocardia, Craniosynostosis, Congenital diaphragmatic hernia, Rib fusion, Abnormal heart morph... |
ORPHA:261197 |
Spastic Paraplegia 27, Autosomal Recessive |
|
Spastic/hyperactive bladder |
OMIM:609041 |
Mucopolysaccharidosis Type 4 |
|
Bowing of the long bones, Abnormal heart valve morphology, Abnormal dental enamel morphology, Sho... |
ORPHA:582 |
Kyphomelic Dysplasia |
|
Bowing of the long bones, Anterior rib cupping, Missing ribs, Lateral clavicle hook, Micrognathia... |
ORPHA:1801 |
Spondylometaphyseal Dysplasia, Schmidt Type |
|
Metaphyseal dysplasia, Abnormality of the knee, Irregular iliac crest, Abnormality of the epiphys... |
ORPHA:93316 |
Spastic Paraplegia 31, Autosomal Dominant |
|
Urinary urgency, Skeletal muscle atrophy, Distal amyotrophy, Lower limb muscle weakness |
OMIM:610250 |
Ciliary Dyskinesia, Primary, 22 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Dextrocardia, Situs inversus tot... |
OMIM:615444 |
Acrofacial Dysostosis 1, Nager Type |
|
Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Hypoplasia of first ribs, Foot ... |
OMIM:154400 |
Rothmund-Thomson Syndrome |
|
Hypoplasia of the ulna, Plantar hyperkeratosis, Sparse eyelashes, Abnormal dental enamel morpholo... |
ORPHA:2909 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Osteopenia, Joint laxity, Bicuspid aortic valve, Ventricular septal defect, Craniosynostosis, Sag... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Osteopenia, Joint laxity, Bicuspid aortic valve, Ventricular septal defect, Craniosynostosis, Sag... |
ORPHA:352665 |
Thoracic Outlet Syndrome |
|
Varicose veins, Abnormal rib morphology, Edema |
ORPHA:97330 |
Short Stature, Brussels Type |
|
Microretrognathia, Delayed epiphyseal ossification, Narrow chest, Calcification of cartilage, Mac... |
ORPHA:2867 |
Congenital Myopathy 10B, Mild Variant |
|
Elbow contracture, Fatty replacement of skeletal muscle, Achilles tendon contracture, Ragged-red ... |
OMIM:620249 |
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus |
|
Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis |
OMIM:620032 |
Atelosteogenesis, Type Iii |
|
Radial bowing, Sandal gap, Rhizomelia, Micrognathia, Tombstone-shaped proximal phalanges, Elbow d... |
OMIM:108721 |
Congenital Disorder Of Glycosylation, Type Iy |
|
Respiratory distress, Clinodactyly, Scoliosis |
OMIM:300934 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Short metacarpal, Brachydactyly, Neonatal epiphyseal stippling, Short metatarsal, Broad palm, Con... |
OMIM:101800 |
Isolated Anencephaly |
|
Omphalocele, Congenital diaphragmatic hernia |
ORPHA:563609 |
Refsum Disease |
|
Short metacarpal, Abnormal foot morphology, Hammertoe, Abnormal epiphysis morphology, Pes cavus |
ORPHA:773 |
Nager Syndrome |
|
Aplasia/Hypoplasia of the thumb, Sparse lower eyelashes, Micrognathia, Abnormality of the lower l... |
ORPHA:245 |
Yellow Nail Syndrome |
|
Recurrent respiratory infections, Renal neoplasm, Sinusitis, Yellow nails, Dyspnea, Nephropathy, ... |
ORPHA:662 |
Oculopharyngodistal Myopathy |
|
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Abnormality of orbicularis... |
ORPHA:98897 |
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Wwox Deficiency |
|
Urinary bladder sphincter dysfunction |
ORPHA:284282 |
Total Anomalous Pulmonary Venous Return 1 |
|
Pulmonary arterial hypertension, Recurrent respiratory infections, Total anomalous pulmonary veno... |
OMIM:106700 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Renal insufficiency, Skin rash, Eosinophilia, Pustule, Myocarditis, Cough, Dyspnea, Hepatitis, Th... |
ORPHA:139402 |
Fibrosis Of Extraocular Muscles, Congenital, 3C |
|
Pectus excavatum, Kyphosis |
OMIM:609384 |
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Ragged-red muscle fiber... |
ORPHA:254864 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N... |
OMIM:235700 |
Orofaciodigital Syndrome Type 2 |
|
Finger syndactyly, Broad hallux, Thick hair, Micrognathia, Short tibia, Adactyly, Broad first met... |
ORPHA:2751 |
Polymyositis |
|
Gastrointestinal hemorrhage, Pericarditis, Abnormal atrioventricular conduction, Myocardial infar... |
ORPHA:732 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Cardiomyopathy, Myopathy |
ORPHA:26792 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Respiratory distress, Syndactyly, Neonatal respiratory distress, Proximal placement of thumb, Sho... |
OMIM:217980 |
Scapuloperoneal Spinal Muscular Atrophy |
|
Scapular winging, Progressive distal muscular atrophy, Torticollis, Facial palsy, Peroneal muscle... |
OMIM:181405 |
Immunodeficiency 109 With Lymphoproliferation |
|
Pancytopenia, Splenomegaly, Bronchiectasis, Recurrent sinusitis, Absent circulating B cells, Recu... |
OMIM:620282 |
Hutchinson-Gilford Progeria Syndrome |
|
Micrognathia, Dystrophic fingernails, Absent eyebrow, Persistence of primary teeth, Abnormal thor... |
ORPHA:740 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Recurrent respiratory infections, Autoimmune hemolytic anemia, Hepatomegaly, Recurrent urinary tr... |
OMIM:618495 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Sacral dimple, Lumbar hyperlordosis, Increased intervertebral space, Hypoplasia of the odontoid p... |
ORPHA:508533 |
Fontaine Progeroid Syndrome |
|
Bicuspid aortic valve, Hypoplasia of the abdominal wall musculature, Atrial septal defect, Recurr... |
OMIM:612289 |
Gm1 Gangliosidosis |
|
Hydrops fetalis, Abnormal form of the vertebral bodies, Aspiration pneumonia, Cherry red spot of ... |
ORPHA:354 |
Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
|
Skeletal muscle atrophy, Achilles tendon contracture, Type 1 muscle fiber atrophy, Elbow flexion ... |
OMIM:310300 |
Spondylocostal Dysostosis 5 |
|
Vertebral fusion, Low back pain, Short neck, Missing ribs, Hemivertebrae, Pectus carinatum, Poste... |
OMIM:122600 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Polyhydramnios, Congenital diaphragmatic hernia, Abnormal lung lobation, Pectus carinatum, Verteb... |
OMIM:312870 |
Heterotaxy, Visceral, 1, X-Linked |
|
Respiratory distress, Congenital hip dislocation, Polyhydramnios, Cardiomegaly, Dextrotranspositi... |
OMIM:306955 |
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
|
Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Bilateral talipes ... |
OMIM:119800 |
Frontometaphyseal Dysplasia 1 |
|
Scapular winging, Cor pulmonale, Mitral valve prolapse, Fused cervical vertebrae, Coat hanger sig... |
OMIM:305620 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Diffuse mesangial sclerosis, Sinusitis, Severe B lymphocytopenia, Hepatomegaly, Autoimmune thromb... |
OMIM:102700 |
Ciliary Dyskinesia, Primary, 16 |
|
Bronchiectasis, Abnormal ciliary motility, Chronic rhinitis, Chronic otitis media, Ciliary dyskin... |
OMIM:614017 |
Spondyloenchondrodysplasia |
|
Metaphyseal dysplasia, Cerebral calcification, Skin rash, Pneumonia, Bowing of the legs, Raynaud ... |
ORPHA:1855 |
Pulmonary Hypertension, Primary, 5 |
|
Pulmonary arterial hypertension, Right ventricular hypertrophy, Exertional dyspnea |
OMIM:265400 |
Donnai-Barrow Syndrome |
|
Omphalocele, Ventricular septal defect, Congenital diaphragmatic hernia, Umbilical hernia, Short ... |
OMIM:222448 |
Sick Sinus Syndrome 2 |
|
Left ventricular hypertrophy, Left ventricular noncompaction, Mitral valve prolapse |
OMIM:163800 |
Congenital Myopathy 3 With Rigid Spine |
|
Facial palsy, Centrally nucleated skeletal muscle fibers, Flexion contracture, Increased variabil... |
OMIM:602771 |
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature |
|
Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Bronc... |
OMIM:615139 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Skeletal muscle atrophy, Thoracic scoliosis, Ventricular septal defect, Postaxial polydactyly, Ky... |
OMIM:603387 |
Vascular Ehlers-Danlos Syndrome |
|
Congenital hip dislocation, Osteoarthritis, Periodontitis, Internal hemorrhage, Abnormal bleeding... |
ORPHA:286 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Ankle clonus, Hypoplasia of the ulna |
OMIM:615398 |
Ciliary Dyskinesia, Primary, 38 |
|
Neonatal respiratory distress, Dextrocardia, Productive cough, Situs inversus totalis, Bronchiect... |
OMIM:618063 |
Hypercalcemia, Infantile, 2 |
|
Polyuria, Hypercalciuria, Renal phosphate wasting, Nephrocalcinosis, Medullary nephrocalcinosis |
OMIM:616963 |
Geleophysic Dysplasia 2 |
|
Ovoid vertebral bodies, Tricuspid stenosis, Mitral valve prolapse, Aortic valve stenosis, Mitral ... |
OMIM:614185 |
Spastic Paraplegia 72, Autosomal Recessive |
|
Urinary bladder sphincter dysfunction |
OMIM:615625 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone... |
OMIM:301078 |
Immunodeficiency 57 With Autoinflammation |
|
Recurrent respiratory infections, Skin rash, Gastritis, Perianal abscess, Bronchiectasis, Decreas... |
OMIM:618108 |
Trichohepatoenteric Syndrome 1 |
|
Hepatomegaly, Increased mean platelet volume, Abnormality of the pancreas, Splenomegaly, Jaundice... |
OMIM:222470 |
Ullrich Congenital Muscular Dystrophy 2 |
|
Increased variability in muscle fiber diameter, Flexion contracture, Congenital muscular dystroph... |
OMIM:616470 |
Occipital Horn Syndrome |
|
Osteopenia, Cerebral calcification, Venous insufficiency, Coxa vara, Pectus carinatum, Humerus va... |
ORPHA:198 |
Fibular Dimelia-Diplopodia Syndrome |
|
Absent tibia |
ORPHA:1757 |
Lymphangiectasia, Intestinal |
|
Edema, Pedal edema, Stillbirth, Intestinal lymphangiectasia, Prominent floating ribs |
OMIM:152800 |
Fetal Akinesia Deformation Sequence 4 |
|
11 pairs of ribs, Skeletal muscle atrophy, Rocker bottom foot, Polyhydramnios, Short neck, Kyphos... |
OMIM:618393 |
Autosomal Recessive Spastic Paraplegia Type 27 |
|
Spastic/hyperactive bladder |
ORPHA:101007 |
Immunodeficiency 46 |
|
Neutropenia, Anemia, Intermittent thrombocytopenia |
OMIM:616740 |
Spherocytosis, Type 1 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis |
OMIM:182900 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Vertebral fusion, Skeletal muscle atrophy, Elbow contracture, Facial palsy, Hyperlordosis, Kyphos... |
OMIM:606612 |
Elliptocytosis 1 |
|
Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis |
OMIM:611804 |
Grant Syndrome |
|
Micrognathia, Down-sloping shoulders, Tibial bowing |
OMIM:138930 |
Sheldon-Hall Syndrome |
|
Ulnar deviation of the wrist, Tarsal synostosis, Bilateral single transverse palmar creases, Micr... |
ORPHA:1147 |
Seckel Syndrome 1 |
|
Ivory epiphyses, 11 pairs of ribs, Pes planus, Sandal gap, Abnormal finger flexion crease, Single... |
OMIM:210600 |
Phocomelia, Schinzel Type |
|
Bowing of the long bones, Radial bowing, Talipes, Micromelia, Aplasia of the ulna, Micrognathia, ... |
ORPHA:2879 |
Immunodeficiency 42 |
|
Splenomegaly, Hepatomegaly, Hypoplasia of the thymus |
OMIM:616622 |
Jansen-De Vries Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Hyperlordosis, Central diaphragmatic hernia, Sm... |
OMIM:617450 |
Schisis Association |
|
Omphalocele, Congenital diaphragmatic hernia |
ORPHA:63862 |
Meckel Syndrome, Type 7 |
|
Multicystic kidney dysplasia, Multiple glomerular cysts, Pancreatic cysts, Situs inversus totalis... |
OMIM:267010 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Left ventricular hypertrophy, Thrombocytopenia, Giant platelets, Anemia |
OMIM:611209 |
Eisenmenger Syndrome |
|
Respiratory distress, Ventricular tachycardia, Pedal edema, Aortopulmonary window, Bacterial endo... |
ORPHA:97214 |
Chronic Beryllium Disease |
|
Lymphocytic interstitial pneumonia, Hypersensitivity pneumonitis, Dyspnea, Abnormality on pulmona... |
ORPHA:133 |
Cd8 Deficiency, Familial |
|
Recurrent respiratory infections, Bronchiectasis |
OMIM:608957 |
Ivic Syndrome |
|
Aplastic clavicle, Preaxial hand polydactyly, Short thumb, Hypoplasia of the radius, Radioulnar s... |
ORPHA:2307 |
Atelis Syndrome 1 |
|
Ventricular septal defect, Eczema, Bronchiectasis, Anemia, Leukopenia, Atrial septal defect, Thro... |
OMIM:620184 |
Tatton-Brown-Rahman Syndrome |
|
Tricuspid regurgitation, Kyphoscoliosis, Supraventricular tachycardia with an accessory connectio... |
ORPHA:404443 |
Hypercalcemia, Infantile, 1 |
|
Polyuria, Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, Medullary nephrocalcinosis |
OMIM:143880 |
Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Decreased muscle mass, Abnormal thorax morphology, Metaphyseal widening, Abnormal form of the ver... |
ORPHA:73230 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Lymphadenopathy, Acute leuke... |
ORPHA:3226 |
Shprintzen-Goldberg Syndrome |
|
Missing ribs, Pectus excavatum, Abnormal form of the vertebral bodies, Pectus carinatum, Mitral v... |
ORPHA:2462 |
Achondrogenesis, Type Ia |
|
Abnormal femoral metaphysis morphology, Polyhydramnios, Beaded ribs, Short neck, Abnormal hand bo... |
OMIM:200600 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Respiratory distress, Dehydration, Cardiomyopathy, Stroke, Pancreatitis |
ORPHA:79312 |
Autosomal Dominant Polycystic Kidney Disease |
|
Dilatation of the cerebral artery, Aortic root aneurysm, Abnormal systemic arterial morphology, M... |
ORPHA:730 |
Tibial Hemimelia |
|
Absent tibia |
OMIM:275220 |
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia |
|
Coxa valga, Elbow dislocation, Advanced ossification of carpal bones, Knee dislocation, Short lon... |
OMIM:620269 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short metacarpal, Iliac crest serration, Metaphyseal chondrodysplasia, Cone-shaped epiphysis, Rhi... |
ORPHA:93317 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Skeletal muscle atrophy, Rocker bottom foot, Short neck, Respiratory insufficiency due to muscle ... |
OMIM:611890 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Abnormal jugular vein morphology, Cardiomegaly, Dyspnea, Right atrial enlargement, ... |
ORPHA:1677 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Myositis, Sinusitis, Tubulointerstitial nephritis, Cough, Glomerulopathy, Abnormal pericardium mo... |
ORPHA:183 |
Oligomeganephronia |
|
Pulmonary venous occlusion, Congenital diaphragmatic hernia, Secundum atrial septal defect, Dehyd... |
ORPHA:2260 |
X Small Rings |
|
Joint laxity, Toe syndactyly, Bicuspid aortic valve, Ventricular septal defect, Short neck, Taper... |
ORPHA:96201 |
Immunodeficiency 23 |
|
Recurrent respiratory infections, Membranoproliferative glomerulonephritis, Eczema, Allergic rhin... |
OMIM:615816 |
Esophageal Atresia |
|
Respiratory distress, Recurrent respiratory infections, Omphalocele, Ventricular septal defect, P... |
ORPHA:1199 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Thrombocy... |
OMIM:617780 |
Microphthalmia With Limb Anomalies |
|
Toe syndactyly, Sandal gap, Single transverse palmar crease, Abnormal eyelash morphology, Capitat... |
OMIM:206920 |
Craniofrontonasal Syndrome |
|
Joint laxity, Toe syndactyly, Broad hallux, Down-sloping shoulders, Congenital diaphragmatic hern... |
OMIM:304110 |
Immunodeficiency 58 |
|
Colitis, Chronic otitis media, Recurrent cutaneous abscess formation, Chronic pulmonary obstructi... |
OMIM:618131 |
Thakker-Donnai Syndrome |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Short neck, Hemivertebrae, Transposit... |
ORPHA:1780 |
Heterotaxy, Visceral, 4, Autosomal |
|
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... |
OMIM:613751 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Lower limb muscle weakness, Respiratory insufficiency due to muscle weakness, Flexion contracture... |
ORPHA:2590 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Respiratory distress, Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venou... |
ORPHA:99125 |
Fucosidosis |
|
Cardiomegaly, Anterior beaking of thoracic vertebrae, Flexion contracture, Anterior beaking of lu... |
OMIM:230000 |
Ehlers-Danlos Syndrome, Classic-Like |
|
Quadricuspid aortic valve, Mitral valve prolapse |
OMIM:606408 |
Autosomal Recessive Malignant Osteopetrosis |
|
Recurrent respiratory infections, Bowing of the long bones, Apnea, Abnormal pulmonary valve morph... |
ORPHA:667 |
Tetrasomy 5P |
|
Respiratory distress, Recurrent respiratory infections, Pericallosal lipoma, Overlapping toe, Sho... |
ORPHA:3309 |
Takenouchi-Kosaki Syndrome |
|
Thrombocytopenia, Increased mean platelet volume |
OMIM:616737 |
Craniodiaphyseal Dysplasia |
|
Craniofacial hyperostosis, Abnormal rib morphology, Diaphyseal thickening, Macrocephaly |
ORPHA:1513 |
Alpha-Mannosidosis |
|
Craniofacial hyperostosis, Recurrent respiratory infections, Inguinal hernia, Bowing of the long ... |
ORPHA:61 |
Radio-Tartaglia Syndrome |
|
Thick eyebrow, Striae distensae, Ventricular septal defect, Highly arched eyebrow, Microcephaly, ... |
OMIM:619312 |
Selective Igm Deficiency |
|
Fasciitis, Lymphadenitis, Paraproteinemia, Recurrent cutaneous fungal infections, Decreased propo... |
ORPHA:331235 |
Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Spinal rigidity, Kyphosis, Flexion contracture, Myopathy, Generalized amyotrophy, Scoliosis, Join... |
OMIM:618323 |
Mucopolysaccharidosis, Type Vii |
|
Spatulate ribs, Short neck, Thoracolumbar kyphosis, Flexion contracture, Hydrops fetalis, Pectus ... |
OMIM:253220 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Ragged-red muscle fibers,... |
OMIM:613561 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Inguinal hernia, Club-shaped proximal femur, Brachydactyly, Anterior rib cupping, Hyperlordosis, ... |
OMIM:184250 |
Hypophosphatasia, Infantile |
|
Recurrent respiratory infections, Apnea, Craniosynostosis, Polyhydramnios, Bowing of the legs, Ve... |
OMIM:241500 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Sinusitis, Pneumonia, Bronchiectasis, Increased circulating IgM level, T lymphocytopenia, Macrogl... |
OMIM:242860 |
Trisomy 13 |
|
Ventricular septal defect, Kyphosis, Patent ductus arteriosus, Postaxial hand polydactyly, Abnorm... |
ORPHA:3378 |
Keutel Syndrome |
|
Recurrent respiratory infections, Alopecia, Ventricular septal defect, Pulmonary artery stenosis,... |
ORPHA:85202 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Lymphopenia, Atrophic gastritis, Psoriasiform dermatitis, Autoimmune hemolytic anemia, Eczema, He... |
OMIM:616100 |
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects |
|
Eczema, Kyphosis, Pectus carinatum, Hip dysplasia, Facial myokymia |
OMIM:620007 |
Retinal Dystrophy And Microvillus Inclusion Disease |
|
Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Bronc... |
OMIM:619446 |
Cleidocranial Dysplasia |
|
Mandibular prognathia, Sinusitis, Micrognathia, Coxa vara, Narrow chest, Hypoplastic inferior ili... |
ORPHA:1452 |
Spondyloocular Syndrome |
|
Pectus carinatum, Shield chest, Mitral valve prolapse, Platyspondyly, Atrial septal defect, Verte... |
OMIM:605822 |
Neuromyelitis Optica Spectrum Disorder |
|
Functional abnormality of the bladder, Autoimmune antibody positivity, Respiratory failure, Optic... |
ORPHA:71211 |
Intermediate Nemaline Myopathy |
|
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Facial diplegia, Type 1 muscle fiber ... |
ORPHA:171433 |
Cerebellar-Facial-Dental Syndrome |
|
Ventricular septal defect, Short neck, Mitral valve prolapse, Ascending tubular aorta aneurysm, S... |
ORPHA:444072 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Aplastic clavicle, Polyhydramnios, Congenital diaphragmatic hernia, Hydrops fetalis, Narrow chest... |
OMIM:616546 |
Hypoplastic Left Heart Syndrome 2 |
|
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia |
OMIM:614435 |
Keipert Syndrome |
|
Broad hallux phalanx, Short hallux, Aplasia/Hypoplasia of the distal phalanges of the toes, Broad... |
ORPHA:2662 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Increased inflammatory response, Skin rash, Tachypnea, Hypoxemia, Respiratory failure, Pleural ef... |
ORPHA:542323 |
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy |
|
Osteoporosis, Recurrent aspiration pneumonia, Polyhydramnios |
OMIM:619971 |
Campomelic Dysplasia |
|
Respiratory distress, Thoracic scoliosis, Apnea, Cervical kyphosis, Polyhydramnios, Anterior tibi... |
OMIM:114290 |
Congenital Tracheal Stenosis |
|
Respiratory distress, Ventricular septal defect, Polyhydramnios, Fetal ascites, Ascending aorta h... |
ORPHA:141127 |
Spondylocarpotarsal Synostosis Syndrome |
|
Carpal synostosis, Epiphyseal dysplasia, Short metacarpal, Scapular winging, Bowed humerus, Tarsa... |
OMIM:272460 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2 |
|
Congenital hip dislocation, Irregular vertebral endplates, Posterior scalloping of vertebral bodi... |
OMIM:603546 |
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Pectus excavatum, Kyphosis, Scoliosis, Pectus carinatum |
ORPHA:276630 |
Distal Triplication 15Q |
|
Arachnodactyly, Craniosynostosis, Kyphosis, Patent ductus arteriosus, Hypoplastic aortic arch, Fl... |
ORPHA:314588 |
1Q41Q42 Microdeletion Syndrome |
|
Pulmonary hypoplasia, Congenital diaphragmatic hernia |
ORPHA:250999 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Recurrent respiratory infections, Hemolytic anemia, Reticulocytosis, Hep... |
OMIM:618278 |
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Short 2nd finger, Ventricular septal defect, Broad hallux, Sandal gap, Secundum atrial septal def... |
OMIM:600987 |
Intellectual Developmental Disorder, Autosomal Dominant 62 |
|
Scoliosis, Arachnodactyly, Striae distensae |
OMIM:618793 |
Pgm3-Cdg |
|
Rheumatoid factor positive, Abnormal CD4:CD8 ratio, Increased circulating IgG level, Leukopenia, ... |
ORPHA:443811 |
Acromelic Frontonasal Dysostosis |
|
Tubulonodular pericallosal lipoma, Syndactyly, Preaxial polydactyly, Preaxial foot polydactyly, P... |
OMIM:603671 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Respiratory distress, Skeletal muscle atrophy, Inguinal hernia, Stroke-like episode, Bradycardia,... |
OMIM:619272 |
Sprengel Deformity |
|
Rib segmentation abnormalities, Cervical segmentation defect, Hemivertebrae, Scoliosis, Sprengel ... |
OMIM:184400 |
Fibrochondrogenesis 2 |
|
Thoracic hypoplasia, Micrognathia, Hypoplastic ilia, Cupped ribs, Metaphyseal widening, Hypoplast... |
OMIM:614524 |
Developmental And Epileptic Encephalopathy 30 |
|
Respiratory distress |
OMIM:616341 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Vertebral fusion, Hyperlordosis, Reduced forced vital capacity, Kyphosis, Achilles tendon contrac... |
OMIM:607155 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Wolff-Parkinson-White syndrome, Kyphosis, Congestive heart failure, Osteoporosis, Myopathy, Scoli... |
OMIM:618234 |
Xq28 (MECP2) duplication |
|
Recurrent respiratory infections, Functional abnormality of the bladder, Decreased circulating Ig... |
DECIPHER:45 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Pneumonia, Lymphadenitis, Salmonella osteomyelitis, Vasculitis in the skin |
ORPHA:319552 |
White-Sutton Syndrome |
|
Joint laxity, Facial hypotonia, Congenital diaphragmatic hernia, Short neck, Patent ductus arteri... |
OMIM:616364 |
Diffuse Cutaneous Systemic Sclerosis |
|
Renal insufficiency, Autoimmunity, Dyspnea, Flexion contracture, Oliguria, Arthritis, Pulmonary f... |
ORPHA:220393 |
Ciliary Dyskinesia, Primary, 19 |
|
Recurrent respiratory infections, Bronchiectasis, Immotile cilia, Rhinitis, Respiratory insuffici... |
OMIM:614935 |
Cryptomicrotia-Brachydactyly-Excess Fingertip Arch Syndrome |
|
Short distal phalanx of finger, Brachytelomesophalangy |
ORPHA:1547 |
Kabuki Syndrome |
|
Congenital diaphragmatic hernia, Vertebral clefting, Hemivertebrae, Small hand, Abnormal form of ... |
ORPHA:2322 |
Shwachman-Diamond Syndrome 1 |
|
Myocardial necrosis, Respiratory distress, Neonatal respiratory distress, Anterior rib cupping, O... |
OMIM:260400 |
Immunodeficiency 7 |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut... |
OMIM:615387 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Short tibia, Short femur, Talipes equinovarus |
OMIM:620306 |
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Respiratory distress, Congenital diaphragmatic hernia |
OMIM:606164 |
Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Striae distensae |
OMIM:178995 |
Striae Distensae, Familial |
|
Striae distensae |
OMIM:185200 |
Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hepatomegaly, Hyperphosphaturia, Polyuria, Splenomegaly, Dyspnea, Primary hyperparath... |
OMIM:239200 |
Renal Glucosuria |
|
Glycosuria, Polyuria, Enuresis nocturna |
OMIM:233100 |
Diamond-Blackfan Anemia 8 |
|
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia |
OMIM:612563 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness,... |
OMIM:616812 |
Platyspondylic Dysplasia, Torrance Type |
|
Bowing of the long bones, Hypoplastic scapulae, Micromelia, Abnormal carpal morphology, Hypoplasi... |
ORPHA:85166 |
Turnpenny-Fry Syndrome |
|
Thoracic kyphoscoliosis, Recurrent respiratory infections, Lumbar hyperlordosis, Pectus excavatum... |
OMIM:618371 |
Gm1 Gangliosidosis Type 1 |
|
Spatulate ribs, Short long bone, Hydrops fetalis, Pectus carinatum, Hypoplastic vertebral bodies,... |
ORPHA:79255 |
Lathosterolosis |
|
Bilobate gallbladder, Increased mean platelet volume, Acanthocytosis, Intrahepatic cholestasis, S... |
OMIM:607330 |
Idiopathic Hypereosinophilic Syndrome |
|
Myelofibrosis, Respiratory distress, Skeletal muscle atrophy, Cholangitis, Pulmonary embolism, In... |
ORPHA:3260 |
Immunodeficiency 92 |
|
Hepatomegaly, Osteomyelitis, Pneumonia, Cholangitis, Leukocytosis, Decreased proportion of class-... |
OMIM:619652 |
Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Thickened ribs, Cardiomegaly, Splenomegaly, Synophrys, Recurrent upper respiratory ... |
OMIM:252920 |
Ciliary Dyskinesia, Primary, 43 |
|
Neonatal respiratory distress, Productive cough, Recurrent upper respiratory tract infections, Br... |
OMIM:618699 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Barrel-shaped chest, Back pain, Lumbar hyperlordosis, Short neck, Hypoplastic iliac wing, Kyphosi... |
OMIM:313400 |
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome |
|
Patent ductus arteriosus, Abnormal aortic morphology, Hypoplastic left heart, Short neck |
ORPHA:2001 |
Mucopolysaccharidosis Type 6 |
|
Epiphyseal dysplasia, Sinusitis, Abnormal heart valve morphology, Ovoid vertebral bodies, Short n... |
ORPHA:583 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Omphalocele, Abnormally ossified vertebrae, Bowing of the long bones, Radial bowing, Cerebral cal... |
ORPHA:3035 |
Splenoportal Vascular Anomalies |
|
Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites |
OMIM:271500 |
Zygomycosis |
|
Fasciitis, Sinusitis, Acute infectious pneumonia, Colitis, Cough, Neutropenia, Nephritis, Infecti... |
ORPHA:73263 |
Fibrochondrogenesis 1 |
|
Short neck, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Patent fora... |
OMIM:228520 |
Mucopolysaccharidosis, Type X |
|
Thickened aortic valve cusp, Spatulate ribs, Hyperlordosis, Broad clavicles, Platyspondyly, Poste... |
OMIM:619698 |
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Respiratory distress, Inguinal hernia, Edema of the dorsum of feet, Edema of the dorsum of hands,... |
ORPHA:544503 |
Hydrops Fetalis |
|
Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pericardial effusion, Abnormal heart morph... |
ORPHA:1041 |
Autosomal Dominant Omodysplasia |
|
Short humerus, Rhizomelia, Micrognathia, Elbow dislocation, Patellar dislocation, Short palm, Sho... |
ORPHA:93328 |
Cohen Syndrome |
|
Ventricular septal defect, Pectus excavatum, Kyphosis, Mitral valve prolapse, Scoliosis |
ORPHA:193 |
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Skeletal muscle atrophy, Short neck, Metaphyseal widening, Flexion contracture, Low anterior hair... |
OMIM:300232 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Decreased platelet glycoprotein Ib, Macrothrombocytopenia, Thrombocytopenia, Neutropenia |
OMIM:603585 |
Immunodeficiency 40 |
|
Hepatomegaly, Respiratory tract infection, Recurrent pneumonia, Eosinophilic granuloma, T lymphoc... |
OMIM:616433 |
Mitochondrial Dna Depletion Syndrome 11 |
|
Neuropathic spinal arthropathy, Facial palsy, Spinal rigidity, Kyphosis, Dyspnea, Dilated cardiom... |
OMIM:615084 |
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Long toe, Sparse scalp hair, Skeletal muscle atrophy, Sparse eyelashes, Arachnodactyly, Kyphoscol... |
ORPHA:75496 |
Proximal Spinal Muscular Atrophy |
|
Skeletal muscle atrophy, Multiple joint contractures, Recurrent infections due to aspiration, Qua... |
ORPHA:70 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Congenital diaphragmatic hernia, Polyhydramnios, Patent ductus arteriosus, Pulmonary hypoplasia, ... |
OMIM:614080 |
Weismann-Netter Syndrome |
|
Fibular bowing, Squared iliac bones, Anterior tibial bowing, Lateral femoral bowing |
OMIM:112350 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Autoimmune hemolytic anemia, Osteomyelitis, Impaired Ig class switch recombination, Autoimmune th... |
OMIM:608184 |
Proximal 16P11.2 Microduplication Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:370079 |
Thrombophilia Due To Thrombin Defect |
|
Pulmonary embolism |
OMIM:188050 |
Arthrogryposis, Distal, Type 5 |
|
Decreased muscle mass, Arachnodactyly, Limited wrist extension, Reduced forced expiratory volume ... |
OMIM:108145 |
Congenital Myopathy 1B, Autosomal Recessive |
|
Skeletal muscle atrophy, Facial palsy, Centrally nucleated skeletal muscle fibers, Increased vari... |
OMIM:255320 |
Rothmund-Thomson Syndrome Type 2 |
|
Short metacarpal, Plantar hyperkeratosis, Aplasia/hypoplasia involving bones of the upper limbs, ... |
ORPHA:221016 |
Sea-Blue Histiocytosis |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia |
ORPHA:158029 |
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Right aortic arch, Bifid sternum, Supraumbilical raphe, Coarctation of aorta |
OMIM:140850 |
Cornelia De Lange Syndrome 1 |
|
Inguinal hernia, Ventricular septal defect, Pneumonia, Congenital diaphragmatic hernia, Short nec... |
OMIM:122470 |
Shashi-Pena Syndrome |
|
Short metacarpal, Highly arched eyebrow, Synophrys, Deep palmar crease, Long eyelashes, Hypertric... |
OMIM:617190 |
Rothmund-Thomson Syndrome Type 1 |
|
Short metacarpal, Plantar hyperkeratosis, Abnormal dental enamel morphology, Alopecia totalis, Me... |
ORPHA:221008 |
Smith-Lemli-Opitz Syndrome |
|
Polyhydramnios, Short neck, Congenital diaphragmatic hernia, Proximal placement of thumb, Abnorma... |
ORPHA:818 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Absence of lymph node germinal center, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Absent ... |
ORPHA:277 |
Say Syndrome |
|
Ulnar deviation of the 3rd finger, Micrognathia, Short distal phalanx of finger, Tapered finger |
OMIM:181180 |
Autosomal Dominant Centronuclear Myopathy |
|
Proximal muscle weakness in upper limbs, Polyhydramnios, Centrally nucleated skeletal muscle fibe... |
ORPHA:169189 |
Double Outlet Right Ventricle |
|
Hypoparathyroidism, Tachycardia, Ventricular septal defect, Tachypnea, Double outlet right ventri... |
ORPHA:3426 |
Noonan Syndrome 8 |
|
Curly hair, Ventricular septal defect, Eczema, Cryptorchidism, Patent ductus arteriosus, Hypertro... |
OMIM:615355 |
Heterotaxy, Visceral, 6, Autosomal |
|
Dextrocardia, Situs inversus totalis, Common atrium, Right aortic arch, Hypoplastic left heart, T... |
OMIM:614779 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Apnea, Hypospadias, Bronchiectasis, Respiratory insufficiency, Aspiration pneumonia, Neutropenia,... |
OMIM:618253 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
11 pairs of ribs, Sandal gap, Short toe, Synophrys, Clinodactyly of the 5th finger, Short 5th met... |
OMIM:617877 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Cervical lymphadenopathy, Decreased mean platelet volume, Lymphadenopathy, Lymphocytosis, Thrombo... |
OMIM:617718 |
Bruck Syndrome 1 |
|
Joint laxity, Hip contracture, Protrusio acetabuli, Ankle flexion contracture, Kyphosis, Osteopor... |
OMIM:259450 |
Systemic Lupus Erythematosus 17 |
|
Leukopenia, Lymphopenia, Thrombocytopenia, Autoimmune thrombocytopenia |
OMIM:301080 |
Childhood-Onset Nemaline Myopathy |
|
Scapular winging, Flexion contracture, Increased muscle lipid content, Generalized limb muscle at... |
ORPHA:171439 |
Congenital Myopathy 22A, Classic |
|
Thoracic scoliosis, Polyhydramnios, Ragged-red muscle fibers, Generalized amyotrophy, Scapular wi... |
OMIM:620351 |
Tuberous Sclerosis Complex |
|
Respiratory distress, Respiratory tract infection, Cardiac rhabdomyoma, Hypertension, Pulmonary l... |
ORPHA:805 |
Melnick-Needles Syndrome |
|
Recurrent respiratory infections, Hypoplastic scapulae, Anterior concavity of thoracic vertebrae,... |
OMIM:309350 |
Mitochondrial Complex I Deficiency, Nuclear Type 16 |
|
Aplasia of the left hemidiaphragm |
OMIM:618238 |
Melioidosis |
|
Foot osteomyelitis, Unusual skin infection, Lung abscess, Liver abscess, Pneumonia, Brain abscess... |
ORPHA:31202 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Lym... |
OMIM:602450 |
Nipah Virus Disease |
|
Respiratory distress, Recurrent pharyngitis, Hypotension, Cough, Infectious encephalitis |
ORPHA:99825 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Increased variability in muscle fiber diameter, Hypertrophic cardiomyopathy, Pulmonary hypoplasia... |
OMIM:614096 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Respiratory distress, Delayed epiphyseal ossification, Macroglossia, Bradycardia, Abnormal epiphy... |
ORPHA:226313 |
Agammaglobulinemia, X-Linked |
|
T lymphocytopenia, Conjunctivitis, Decreased circulating IgE, Neutropenia, Decreased circulating ... |
OMIM:300755 |
Coffin-Lowry Syndrome |
|
Pes planus, Short metacarpal, Brachydactyly, Pseudoepiphyses of the metacarpals, Tapered finger, ... |
ORPHA:192 |
Mucolipidosis Ii Alpha/Beta |
|
Brittle hair, Cardiomegaly, Micrognathia, Metaphyseal widening, Sparse hair, Hepatomegaly, Thorac... |
OMIM:252500 |
Frontometaphyseal Dysplasia 2 |
|
Hip contracture, Short metacarpal, Congenital hip dislocation, Ulnar deviation of the hand, Elbow... |
OMIM:617137 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Brachydactyly, Metaphyseal widening, Squared iliac bones, Short long bone, Short ribs, Limb under... |
OMIM:618961 |
Dextrocardia |
|
Abnormal EKG, Congenital hip dislocation, Dextrocardia, Situs inversus totalis, Abnormal rib morp... |
ORPHA:1666 |
Ciliary Dyskinesia, Primary, 2 |
|
Respiratory distress, Recurrent respiratory infections, Sinusitis, Dextrocardia, Situs inversus t... |
OMIM:606763 |
Hemochromatosis, Type 3 |
|
Lymphopenia, Cirrhosis, Anemia, Neutropenia |
OMIM:604250 |
Ciliary Dyskinesia, Primary, 13 |
|
Situs inversus totalis, Bronchiectasis, Immotile cilia, Recurrent sinusitis, Recurrent otitis med... |
OMIM:613193 |
Hypermobile Ehlers-Danlos Syndrome |
|
Inguinal hernia, Apnea, Venous insufficiency, Osteoarthritis, Genital hernia, Cystocele, Osteolys... |
ORPHA:285 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Mandibular prognathia, Broad hallux phalanx, Toe syndactyly, Slow-growing hair, Metatarsus valgus... |
ORPHA:3082 |
Immunodeficiency 36 With Lymphoproliferation |
|
Lymphopenia, Autoimmunity, Splenomegaly, Chronic lymphatic leukemia, Increased circulating IgM le... |
OMIM:616005 |
Gm1-Gangliosidosis, Type I |
|
Thickened ribs, Abnormal heart valve morphology, Short neck, Kyphosis, Dilated cardiomyopathy, Hy... |
OMIM:230500 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Skeletal muscle atrophy, Spinal muscular atrophy, Patent ductus arteriosus, Flexion contracture, ... |
OMIM:616867 |
Osteosclerosis With Ichthyosis And Fractures |
|
Femoral bowing, Cortical thickening of long bone diaphyses, Tibial bowing |
OMIM:166740 |
Eiken Syndrome |
|
Broad femoral neck, Delayed epiphyseal ossification, Flat acetabular roof, Fibular hypoplasia, Fl... |
OMIM:600002 |
Perlman Syndrome |
|
Congenital diaphragmatic hernia, Polyhydramnios, Edema, Hypoplasia of the abdominal wall musculat... |
OMIM:267000 |
Dahlberg-Borer-Newcomer Syndrome |
|
Mitral valve prolapse |
ORPHA:1563 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Flexion contracture, Femoral bowing, Abnormality of the wrist, Elbow ankylosis, Short metacarpal,... |
ORPHA:95699 |
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema |
|
Respiratory distress, Tongue edema, Palpebral edema, Pharyngeal edema, Facial edema, Laryngeal ed... |
ORPHA:100057 |
Gaucher Disease, Type Iii |
|
Vascular calcification |
OMIM:231000 |
Thoracomelic Dysplasia |
|
Short neck, Hyperlordosis, Abnormal fibula morphology, Genu valgum, Low posterior hairline, Bell-... |
ORPHA:1803 |
Cerebellofaciodental Syndrome |
|
Mitral valve prolapse, Ventricular septal defect, Scoliosis, Short neck |
OMIM:616202 |
Presynaptic Congenital Myasthenic Syndromes |
|
Congenital hip dislocation, Polyhydramnios, Limb-girdle muscle weakness, Pectus carinatum, Muscle... |
ORPHA:98914 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Abnormal hand morphology, Small hand, Premature graying of hair, Broad finger, Short phalanx of f... |
OMIM:300845 |
Congenital Myasthenic Syndrome |
|
Congenital hip dislocation, Polyhydramnios, Limb-girdle muscle weakness, Pectus carinatum, Muscle... |
ORPHA:590 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodactyly of the 5th finger, Radial bowing, ... |
OMIM:210720 |
46,Xx Sex Reversal 5 |
|
Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect, Aplasia of the ... |
OMIM:618901 |
Complement Factor B Deficiency |
|
Peritonitis, Pneumonia |
OMIM:615561 |
Spastic Paraplegia 83, Autosomal Recessive |
|
Urinary urgency |
OMIM:619027 |
Stiff Skin Syndrome |
|
Lack of skin elasticity |
ORPHA:2833 |
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Recurrent respiratory infections, Situs inversus totalis, Decreased nasal nitric oxide, Bronchiec... |
OMIM:620197 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormal clavicle morphology, Microcephaly, Pectus excavatum, Short neck, Hyperlordosis, Kyphosis... |
ORPHA:2522 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Respiratory distress, Polyhydramnios, Postaxial polydactyly, Patent ductus arteriosus, Postaxial ... |
OMIM:617088 |
Granulomatous Disease, Chronic, X-Linked |
|
Recurrent bacterial skin infections, Hepatomegaly, Osteomyelitis, Liver abscess, Discoid lupus ra... |
OMIM:306400 |
Grant Syndrome |
|
Bowing of the long bones, Abnormal cortical bone morphology, Abnormal rib morphology, Joint hyper... |
ORPHA:2097 |
Congenital Myopathy 15 |
|
Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Type 1 musc... |
OMIM:620161 |
Progressive Pseudorheumatoid Dysplasia |
|
Enlarged epiphyses, Enlarged interphalangeal joints, Camptodactyly of finger, Kyphoscoliosis, Joi... |
OMIM:208230 |
Cidec-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Lipodystrophy, Decreased adiponectin level, Decreas... |
ORPHA:435651 |
Hunter-Macdonald Syndrome |
|
Bicuspid aortic valve, Patent ductus arteriosus, Mitral valve prolapse, Pectus carinatum, Scoliosis |
OMIM:611962 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Mitral valve prolapse, Varicos... |
OMIM:602782 |
Bronchial Neuroendocrine Tumor |
|
Hepatomegaly, Pneumonia, Elevated circulating growth hormone concentration, Abnormal pulmonary va... |
ORPHA:97287 |
Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Bronchial breath sound, Crackles, Nonproductive cough, Dyspnea, Wheezing, P... |
ORPHA:1302 |
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Nephrocalcinosis, Dilated cardiomyopathy, Polyuria |
OMIM:620152 |
Nicolaides-Baraitser Syndrome |
|
Dry hair, Single transverse palmar crease, Short metatarsal, Low anterior hairline, Prominent int... |
OMIM:601358 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Prominent fingertip pads, Ventricular septal defect, Overlapping toe, Increased nuchal translucen... |
OMIM:618494 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Aplasia/hypoplasia of the extremities, Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasia of t... |
OMIM:276820 |
Microscopic Polyangiitis |
|
Episcleritis, Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Epistaxis, Ren... |
ORPHA:727 |
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Motheaten muscle fibers, Musc... |
OMIM:226670 |
Postinfectious Vasculitis |
|
Rheumatoid factor positive, Gastrointestinal inflammation, Bacterial endocarditis, Recurrent stre... |
ORPHA:48435 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Pectus excavatum, Mitral valve prolapse |
OMIM:618874 |
Myopathy, Centronuclear, 2 |
|
Scapular winging, Facial palsy, Hyperlordosis, Respiratory insufficiency due to muscle weakness, ... |
OMIM:255200 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Thrombocytopenia, Congenital thrombocytopenia, Anemia, Neutropenia |
OMIM:616738 |
Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Intestinal lymphangiectasia, Lymphopenia |
OMIM:207731 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Respiratory distress, Recurrent respiratory infections, Skeletal muscle atrophy, Short femur, Apn... |
ORPHA:17 |
Orofaciodigital Syndrome X |
|
Preaxial hand polydactyly, Coalescence of tarsal bones, Hand oligodactyly, Fibular aplasia |
OMIM:165590 |
Pseudo-Torch Syndrome 2 |
|
Acute respiratory distress syndrome, Cerebral calcification, Cerebral hemorrhage, Secundum atrial... |
OMIM:617397 |
Bartsocas-Papas Syndrome 1 |
|
Micrognathia, Flexion contracture, Hypoplastic iliac wing, Short phalanx of finger, Syndactyly, S... |
OMIM:263650 |
Myoglobinuria, Recurrent |
|
Ragged-red muscle fibers |
OMIM:550500 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Lymphopenia, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophi... |
ORPHA:331206 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Recurrent respiratory infections, Pancytopenia, Hepatomegaly, Abnormal lymphocyte count, Thromboc... |
ORPHA:79124 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Postaxial polydactyly, Micrognathia, Preaxial polydactyly, Hypoplastic pubic bone, Fibular hypopl... |
OMIM:617925 |
Macrophage Activation Syndrome |
|
Increased circulating interleukin 6 concentration, Autoimmunity, Thrombocytopenia, Splenomegaly, ... |
ORPHA:158061 |
3C Syndrome |
|
Recurrent respiratory infections, Inguinal hernia, Finger syndactyly, Ventricular septal defect, ... |
ORPHA:7 |
Juvenile Temporal Arteritis |
|
Conjunctivitis, Vasculitis, Cerebral ischemia, Allergic rhinitis |
ORPHA:26137 |
Short-Rib Thoracic Dysplasia 12 |
|
Edema, Short neck, Polyhydramnios, Bowing of the legs, Thoracic dysplasia, Narrow chest, Short pa... |
OMIM:269860 |
Cartilage-Hair Hypoplasia |
|
Short neck, Heart block, Metaphyseal chondrodysplasia, Abnormal form of the vertebral bodies, Pec... |
ORPHA:175 |
Congenital Disorder Of Glycosylation, Type Iu |
|
Respiratory distress, Neonatal respiratory distress, Scoliosis, Congenital contracture |
OMIM:615042 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Craniofacial hyperostosis, Thickened ribs, Cortical sclerosis, Craniofacial osteosclerosis, Diaph... |
OMIM:122860 |
Mulibrey Nanism |
|
Hepatomegaly, Cardiomegaly, Absent frontal sinuses, Enamel hypoplasia, Hypoplastic frontal sinuse... |
OMIM:253250 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hemolytic anemia, Brain abscess, Anuria, Acute kidney injury, Pneumonia, Respiratory tract infect... |
ORPHA:544482 |
Fanconi Anemia, Complementation Group W |
|
Abnormal radial ray morphology, Hypoplasia of the radius, Absent thumb |
OMIM:617784 |
Zttk Syndrome |
|
Absent gallbladder, Curly hair, Unilateral lung agenesis, Ventricular septal defect, Polyuria, Un... |
OMIM:617140 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Proximal muscle weakness in upper limbs, Scapular winging, Cardiomegaly, Pollakisuria, Proximal m... |
ORPHA:268 |
Acrofrontofacionasal Dysostosis 1 |
|
Short metacarpal, Long eyebrows, Widow's peak, Long eyelashes, Acetabular dysplasia, Broad thumb,... |
OMIM:201180 |
Congenital Myopathy 24 |
|
Scapular winging, Nemaline bodies, Facial palsy, Type 1 muscle fiber predominance |
OMIM:617336 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Respiratory distress, Recurrent respiratory infections, Overlapping toe, Flexion contracture, Pec... |
OMIM:619383 |
Achondroplasia |
|
Rhizomelia, Hip joint hypermobility, Bowing of the legs, Short proximal phalanx of finger, Abnorm... |
ORPHA:15 |
Idiopathic Pulmonary Arterial Hypertension |
|
Abnormal jugular vein morphology, Increased pulmonary vascular resistance, Dyspnea, Elevated pulm... |
ORPHA:275766 |
Aregenerative Anemia |
|
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Bone marrow hypocellularity, Neutropenia, ... |
ORPHA:101096 |
Cleidocranial Dysplasia 1 |
|
Respiratory distress, Short middle phalanx of the 2nd finger, Coxa vara, Narrow chest, Hypoplasti... |
OMIM:119600 |
Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:604765 |
Leopard Syndrome 3 |
|
Short neck, Shield chest, Abnormal aortic valve morphology, Abnormal mitral valve morphology, Tet... |
OMIM:613707 |
Cdkl5-Deficiency Disorder |
|
Hallux valgus, Broad proximal phalanges of the hand, Kyphosis, Abnormal respiratory system physio... |
ORPHA:505652 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Recurrent respiratory i... |
OMIM:211530 |
Restrictive Dermopathy |
|
Osteopenia, Thoracic kyphoscoliosis, Aplasia/Hypoplasia of the clavicles, Multiple joint contract... |
ORPHA:1662 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Single transverse palmar crease, Micrognathia, Flexion contracture, Tibial bowing, Hypoplastic il... |
ORPHA:96334 |
Lipe-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Lipodystrophy, Decreased adiponectin level, Decreas... |
ORPHA:435660 |
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Hepatomegaly, Left atrial enlargement, Left ventricular noncompaction cardiomyopathy, Facial pals... |
OMIM:619424 |
Basal Ganglia Calcification, Idiopathic, 1 |
|
Basal ganglia calcification, Calcification of the small brain vessels, Dense calcifications in th... |
OMIM:213600 |
Cutis Laxa, Autosomal Recessive, Type Iie |
|
Syndactyly, Brachydactyly, Lumbar hyperlordosis, Ovoid vertebral bodies, Highly arched eyebrow, P... |
OMIM:619451 |
Amyotrophic Lateral Sclerosis 27, Juvenile |
|
Scapular winging, Quadriceps muscle atrophy, Angulated muscle fibers, Intrinsic hand muscle atrop... |
OMIM:620285 |
Catel-Manzke Syndrome |
|
Short humerus, Short metacarpal, Short femur, Inguinal hernia, Single transverse palmar crease, M... |
OMIM:616145 |
Baller-Gerold Syndrome |
|
Carpal bone aplasia, Hypoplasia of the ulna, Short humerus, Radial deviation of the hand, Limited... |
OMIM:218600 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Preaxial hand polydactyly, Postaxial hand polydactyly, Disproportionate shortening of the tibia, ... |
OMIM:263520 |
Congenital Pseudoarthrosis Of The Clavicle |
|
Situs inversus totalis, Congenital pseudoarthrosis of the clavicle, Cervical ribs, Dextrocardia |
ORPHA:66630 |
Thanatophoric Dysplasia, Type I |
|
Neonatal respiratory distress, Bowing of the long bones, Small abnormally formed scapulae, Polyhy... |
OMIM:187600 |
Craniorachischisis |
|
Omphalocele, Bifid sternum, Congenital diaphragmatic hernia |
ORPHA:63260 |
Pelizaeus-Merzbacher Disease |
|
Recurrent respiratory infections, Joint stiffness, Kyphosis, Respiratory insufficiency, Arteriove... |
ORPHA:702 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Sparse hair, Syndactyly, Enamel hypoplasia, Cardiomegaly |
OMIM:613576 |
Autosomal Agammaglobulinemia |
|
Recurrent respiratory infections, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections,... |
ORPHA:33110 |
Chronic Intestinal Pseudoobstruction |
|
Abnormal platelet morphology |
ORPHA:2978 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Respiratory distress, Prolonged QRS complex, Apnea, Cardiomegaly, Pericardial effusion, Shortened... |
OMIM:261740 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hemolytic anemia, Acute pancreatitis, Abscess, Perianal abscess, Lymphadenitis, Splenomegaly, Rec... |
OMIM:618935 |
Fanconi Anemia, Complementation Group F |
|
Atrial septal defect, Decreased response to growth hormone stimulation test, Pneumonia, Cryptorch... |
OMIM:603467 |
Noonan Syndrome 2 |
|
Abnormal coronary artery origin, Mitral stenosis, Ventricular septal defect, Short neck, Pectus e... |
OMIM:605275 |
Trichorhinophalangeal Syndrome, Type Ii |
|
Chronic gastritis, Recurrent respiratory infections, Scapular winging, Bicuspid aortic valve, Spa... |
OMIM:150230 |
Halperin-Birk Syndrome |
|
Inguinal hernia, Congenital diaphragmatic hernia, Flexion contracture, Perimembranous ventricular... |
OMIM:618651 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Normocytic anemia, Skin rash, Pneumonia, Proteinuria, Weakness of facial musculature, Punctate va... |
ORPHA:247691 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Microcephaly, Cardiomegaly, Perimembranous ventricular septal defect, Recurrent lower respiratory... |
OMIM:619170 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis, Elevated hepatic i... |
OMIM:615234 |
Autosomal Recessive Robinow Syndrome |
|
Short neck, Pectus carinatum, Vertebral segmentation defect, Abnormal tricuspid valve morphology,... |
ORPHA:1507 |
Simpson-Golabi-Behmel Syndrome |
|
Bundle branch block, Congenital hip dislocation, Polyhydramnios, Short neck, Congenital diaphragm... |
ORPHA:373 |
Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Thrombocyto... |
OMIM:613011 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... |
OMIM:613470 |
Matthew-Wood Syndrome |
|
Abnormal lung morphology, Pulmonary hypoplasia, Congenital diaphragmatic hernia |
ORPHA:2470 |
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Short long bone, Polydactyly, Brachydactyly |
OMIM:613819 |
15Q11.2 Microdeletion Syndrome |
|
Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Total anomalous pulmo... |
ORPHA:261183 |
Hypochondroplasia |
|
Bowing of the long bones, Brachydactyly, Hyperlordosis, Short toe, Abnormal femur morphology, Abn... |
ORPHA:429 |
Arthrogryposis Multiplex Congenita 6 |
|
Neonatal death, Increased variability in muscle fiber diameter, Nemaline bodies, Arthrogryposis m... |
OMIM:619334 |
Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Atrial septal defect, Sacral dimple, Patent ductus arteriosus, Coarctation of aorta |
OMIM:615502 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Prolonged QT interval, Respiratory distress, Tachycardia, Inflammatory abnormality of the skin, V... |
ORPHA:26793 |
Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Bowing of the long bones, Broad long bones, Micromelia, Micrognathia, Equinovarus deformity, Meta... |
OMIM:224400 |
Osteogenesis Imperfecta, Type Vii |
|
Osteopenia, Multiple rib fractures, Crumpled long bones, Protrusio acetabuli, Femoral retroversio... |
OMIM:610682 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Hemolytic anemia, Lymphopenia, Thrombocytopenia |
OMIM:616744 |
Kearns-Sayre Syndrome |
|
Skeletal muscle atrophy, Ragged-red muscle fibers |
ORPHA:480 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Abnormal thorax morphology, Fair hair, Metaphyseal irre... |
OMIM:269920 |
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome |
|
Curly hair, Broad long bones, Abnormal metatarsal morphology, Curly eyelashes, Multiple rows of e... |
ORPHA:163654 |
Bruck Syndrome |
|
Bowing of the long bones, Recurrent fractures, Joint stiffness, Kyphosis, Osteoporosis, Respirato... |
ORPHA:2771 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Branchial cyst, Recurrent respiratory infections, Absent nipple, Aplasia of the thymus, Facial pa... |
OMIM:620186 |
White Forelock With Malformations |
|
Atrial septal defect, Sprengel anomaly, Spina bifida occulta, Abnormal rib morphology |
ORPHA:2475 |
Hand-Foot-Genital Syndrome |
|
Shortening of all middle phalanges of the fingers, Short hallux, Proximal placement of thumb, Hal... |
ORPHA:2438 |
Hand-Foot-Genital Syndrome |
|
Shortening of all middle phalanges of the fingers, Short hallux, Proximal placement of thumb, Hal... |
OMIM:140000 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Sacral dimple, Prominent fingertip pads, Bicuspid aortic valve, Ventricular sep... |
OMIM:610443 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Neuropathic spinal arthropathy, Spinal rigidity, Respiratory insufficiency due to muscle weakness... |
ORPHA:352447 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Ketonuria, Dilated cardiomyopathy, Lacticaciduria, Left ventricular noncompaction, ... |
OMIM:619167 |
Marshall-Smith Syndrome |
|
Thoracic scoliosis, Large sternal ossification centers, Apnea, Distal widening of metacarpals, Co... |
OMIM:602535 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Recurrent urinary tract infections, Sinusitis, Decreased proportion of naive T cells, Pneumonia, ... |
ORPHA:83471 |
Alstrom Syndrome |
|
Chronic active hepatitis, Kyphosis, Congestive heart failure, Dilated cardiomyopathy, Recurrent p... |
OMIM:203800 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Tricuspid regurgitation, Ventricular septal defect, Joint hypermobility, Craniosynostosis, Short ... |
OMIM:617506 |
Renal Tubular Dysgenesis |
|
Anuria, Respiratory insufficiency, Abnormality of the urinary system, Pulmonary hypoplasia, Renot... |
OMIM:267430 |
Riddle Syndrome |
|
Pneumonia, Bronchitis, Neonatal asphyxia, Intraventricular hemorrhage, Recurrent pneumonia, Abnor... |
ORPHA:420741 |
Mitochondrial Complex I Deficiency, Nuclear Type 21 |
|
Myopathy, Ragged-red muscle fibers |
OMIM:618242 |
Craniosynostosis With Fibular Aplasia |
|
Single transverse palmar crease, Fibular aplasia |
OMIM:218550 |
Bleeding Disorder, Platelet-Type, 17 |
|
Increased RBC distribution width, Macrothrombocytopenia, Absence of alpha granules, Impaired coll... |
OMIM:187900 |
Mucopolysaccharidosis, Type Iiia |
|
Inguinal hernia, Thickened ribs, Joint stiffness, Recurrent upper respiratory tract infections, O... |
OMIM:252900 |
Mullegama-Klein-Martinez Syndrome |
|
Facial palsy, Congenital diaphragmatic hernia, Coarctation of aorta, Hypoplastic left heart, Apic... |
OMIM:301022 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
ORPHA:70593 |
Boomerang Dysplasia |
|
Absent radius, Hypoplastic iliac body, Fibular aplasia |
OMIM:112310 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress, Stroke, Cerebral ischemia |
ORPHA:927 |
Craniosynostosis, Herrmann-Opitz Type |
|
Finger syndactyly, Brachydactyly, Craniosynostosis, Split hand, Abnormal rib morphology, Aplasia/... |
ORPHA:2145 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Osteopenia, Bicuspid aortic valve, Myocardial infarction, Short neck, Lymphedema, Reduced bone mi... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Osteopenia, Bicuspid aortic valve, Myocardial infarction, Short neck, Lymphedema, Reduced bone mi... |
ORPHA:99228 |
Monosomy X |
|
Osteopenia, Bicuspid aortic valve, Myocardial infarction, Short neck, Lymphedema, Reduced bone mi... |
ORPHA:99226 |
Turner Syndrome |
|
Osteopenia, Bicuspid aortic valve, Myocardial infarction, Short neck, Lymphedema, Reduced bone mi... |
ORPHA:881 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Respiratory distress, Skeletal muscle atrophy, Nonimmune hydrops fetalis, Portal hypertension, Po... |
ORPHA:367 |
Microsporidiosis |
|
Myositis, Sinusitis, Cholangitis, Bronchitis, Lymphadenitis, Abnormality of the spleen, Abnormali... |
ORPHA:2552 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Small hypothenar eminence, Arachnodactyly, Hypoplasia of the musculature, Cardiomegaly, Thenar mu... |
ORPHA:2463 |
Sapho Syndrome |
|
Psoriasiform dermatitis, Acne, Osteomyelitis, Edema, Skin rash, Pustule, Abnormal sacroiliac join... |
ORPHA:793 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 4 |
|
Ragged-red muscle fibers |
OMIM:615159 |
Hemorrhagic Fever-Renal Syndrome |
|
Respiratory distress, Anuria, Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tubulo... |
ORPHA:340 |
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Osteopenia, Recurrent respiratory infections, Respiratory distress, Polyhydramnios, Contractures ... |
ORPHA:329178 |
Schneckenbecken Dysplasia |
|
Polyhydramnios, Short neck, Lateral clavicle hook, Snail-like ilia, Narrow chest, Nonimmune hydro... |
OMIM:269250 |
Gaucher Disease Type 1 |
|
Osteopenia, Increased bone mineral density, Pericardial effusion, Kyphosis, Osteoarthritis, Osteo... |
ORPHA:77259 |
Pseudohypoparathyroidism Type 1C |
|
Short metacarpal, Short fifth metatarsal, Short metatarsal, Short 3rd metacarpal, Broad distal ph... |
ORPHA:79444 |
Mesomelic Dysplasia, Kantaputra Type |
|
Carpal synostosis, Radial bowing, Tarsal synostosis, Mesomelia |
OMIM:156232 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Apnea, Episodic tachypnea, Aspiration pneumonia, Abnormal heart morphology |
ORPHA:79264 |
Roberts Syndrome |
|
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, Knee flexion contract... |
ORPHA:3103 |
Schwartz-Jampel Syndrome |
|
Skeletal muscle atrophy, Apnea, Polyhydramnios, Short neck, Coxa vara, Pectus carinatum, Sprengel... |
ORPHA:800 |
Chops Syndrome |
|
Curly hair, Thick eyebrow, Ventricular septal defect, Thick hair, Splenomegaly, Cryptorchidism, S... |
OMIM:616368 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Respiratory distress, Recurrent respiratory infections, Sacral dimple, Joint laxity, Postaxial po... |
OMIM:300968 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Recurrent respiratory infections, Microcephaly, Abnormal rib morphology, Abnormal epiphysis morph... |
ORPHA:2643 |
Griscelli Syndrome Type 2 |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropenia |
ORPHA:79477 |
Occipital Horn Syndrome |
|
Pectus carinatum, Narrow chest, Broad ribs, Joint laxity, Pelvic bone exostoses, Hiatus hernia, O... |
OMIM:304150 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Respiratory distress, Urethral stricture, Renal cyst, Gastrointestinal inflammation, Aplasia/Hypo... |
ORPHA:79404 |
Non-Syndromic Posterior Hypospadias |
|
Omphalocele, Congenital diaphragmatic hernia |
ORPHA:95706 |
Mixed Connective Tissue Disease |
|
Hemolytic anemia, Myositis, Pericarditis, Skin rash, Gastritis, Hepatomegaly, Alopecia, Autoimmun... |
ORPHA:809 |
Omenn Syndrome |
|
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... |
OMIM:603554 |
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
|
Muscle fiber hyaline bodies, Centrally nucleated skeletal muscle fibers, Scapuloperoneal amyotrop... |
OMIM:255160 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Skeletal muscle atrophy, Craniofacial hyperostosis, Facial palsy, Abnormal muscle fiber morpholog... |
ORPHA:3068 |
Akt2-Related Familial Partial Lipodystrophy |
|
Lipodystrophy, Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes me... |
ORPHA:79085 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Bulging epiphyses, Recurrent fractures, Bowing of the legs, Enlargement of the costochondral junc... |
OMIM:600081 |
Spastic Paraplegia Type 2 |
|
Recurrent respiratory infections, Pulmonary embolism |
ORPHA:99015 |
Neutropenia, Severe Congenital, 8, Autosomal Dominant |
|
Exocrine pancreatic insufficiency, Neutropenia |
OMIM:618752 |
Fibrodysplasia Ossificans Progressiva |
|
Hallux valgus, Small cervical vertebral bodies, Alopecia, Short hallux, Metaphyseal widening, Abn... |
OMIM:135100 |
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type) |
|
Ragged-red muscle fibers, Limb muscle weakness, Facial diplegia, Generalized amyotrophy, EMG: myo... |
OMIM:609560 |
Noonan Syndrome 9 |
|
Ventricular septal defect, Short neck, Pulmonic stenosis, Coarctation of aorta |
OMIM:616559 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Hepatomegaly, Proximal tubulopathy, Polyuria |
OMIM:560000 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina... |
OMIM:266200 |
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome |
|
Abnormal muscle fiber protein expression |
ORPHA:330054 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Calcinosis, Hyperostosis, Subperiosteal bone formation, Enamel hypoplasia, Vascular calcification |
OMIM:211900 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Proximal muscle weakness in low... |
OMIM:613954 |
Rhombencephalosynapsis |
|
Microretrognathia, Finger syndactyly, Polydactyly, Complete duplication of thumb phalanx, Short p... |
ORPHA:59315 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Hypoventilation, Myositis, Absent muscle fiber merosin, Facial palsy, Atelectasis, Flexion contra... |
ORPHA:258 |
Mosaic Trisomy 16 |
|
Syndactyly, Ventricular septal defect, Short thumb, Patent ductus arteriosus, Abnormal thorax mor... |
ORPHA:1708 |
Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Sparse scalp hair, Recurrent urinary tract infections, Thick eyebrow, Hypospadias, Sparse eyelash... |
OMIM:619293 |
You-Hoover-Fong Syndrome |
|
Kyphoscoliosis, Pectus excavatum, Coarctation of aorta, Vascular ring, Clinodactyly, Double aorti... |
OMIM:616954 |
Congenital Alveolar Capillary Dysplasia |
|
Respiratory distress, Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus,... |
ORPHA:210122 |
Immunodeficiency 44 |
|
Lymphopenia |
OMIM:616636 |
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome |
|
Splenomegaly, Pancytopenia |
OMIM:614979 |
Sotos Syndrome |
|
Ureteral duplication, Flexion contracture, Atrial septal defect, Vesicoureteral reflux, Chronic o... |
ORPHA:821 |
Cholera |
|
Abnormality of renal excretion, Tachypnea, Stroke, Aspiration pneumonia, Acute kidney injury, Dec... |
ORPHA:173 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Respiratory distress, Central apnea, Lumbar hyperlordosis, Kyphosis, Congestive heart failure, Fe... |
OMIM:616482 |
Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Mitral atresia, Patent ductus arteriosus, Double outlet right ventricle, Coarctation of aorta, Su... |
OMIM:618164 |
Long Qt Syndrome 13 |
|
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... |
OMIM:613485 |
Moebius Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Abnormal morphology of ulna, M... |
ORPHA:570 |
Lymphoid Interstitial Pneumonia |
|
Aortic valve stenosis, Cor pulmonale, Lymphocytic interstitial pneumonia |
OMIM:247610 |
Brittle Cornea Syndrome |
|
Pulmonic stenosis, Scoliosis, Mitral valve prolapse |
ORPHA:90354 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Poikilocytosis, Prolonged ne... |
OMIM:300908 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Cardiomegaly, Pericardial effusion, Pleural effusion, Bradycardia, Hypertrophic cardiomyopathy, A... |
OMIM:614702 |
Fetal Alcohol Syndrome |
|
Atrial septal defect, Congenital diaphragmatic hernia |
ORPHA:1915 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Crazy paving pattern, Crackles, Dyspnea, Clubbing, Intraalveolar phospholipid accumulation, Hypox... |
ORPHA:747 |
Malignant Migrating Focal Seizures Of Infancy |
|
Aortopulmonary collateral arteries, Scoliosis |
ORPHA:293181 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal cardiac septum morphology, Abnormal rib morphology, Abnormal form of the vertebral bodies |
ORPHA:93941 |
Carnitine Deficiency, Systemic Primary |
|
Respiratory distress, Cardiomegaly, Congestive heart failure, Dehydration, Cardiomyopathy, Mitral... |
OMIM:212140 |
Fanconi Anemia |
|
Finger syndactyly, Hypoplasia of the ulna, Toe syndactyly, Pes planus, Abnormal morphology of uln... |
ORPHA:84 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Overriding aorta, Ventricular septal defect, Congenital diaphragmatic hernia, Junctional ectopic ... |
OMIM:309801 |
Choanal Atresia |
|
Respiratory distress, Recurrent respiratory infections, Craniosynostosis, Upper airway obstructio... |
ORPHA:137914 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Webbed neck, Short distal phalanx of finger |
OMIM:601355 |
Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Kyphosis, Hypertrophic cardiomyopathy |
OMIM:618237 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
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Respiratory distress, Respiratory failure requiring assisted ventilation, Facial hypotonia, Cardi... |
ORPHA:308552 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Brain abscess, Neutrophilia, Liver abscess, Abnormality of the pancreas, Abnormality of the lymph... |
ORPHA:54251 |
8Q24.3 Microdeletion Syndrome |
|
Respiratory distress, Thoracic scoliosis, Congenital hip dislocation, Short neck, Abnormal lung l... |
ORPHA:508488 |
Developmental And Epileptic Encephalopathy 95 |
|
Short digit, Short fourth metatarsal, Multiple joint contractures, Inguinal hernia, Single transv... |
OMIM:618143 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Ventricular septal defect, Broad hallux, Congenital diaphragmatic hernia, Tapered finger, 1-2 toe... |
OMIM:301044 |
Lipodystrophy, Familial Partial, Type 7 |
|
Sparse scalp hair, Spontaneous pneumothorax, Polyuria, Pulmonary arteriovenous malformation, Recu... |
OMIM:606721 |
Arima Syndrome |
|
Hepatomegaly, Proteinuria, Polyuria, Dyspnea, Tachypnea, Stage 5 chronic kidney disease, Hematuri... |
OMIM:243910 |
Combined Oxidative Phosphorylation Deficiency 28 |
|
Ragged-red muscle fibers |
OMIM:616794 |
Methimazole Embryofetopathy |
|
Abnormal aortic morphology, Ventricular septal defect, Coarctation of aorta |
ORPHA:1923 |
Nephrosialidosis |
|
Pericardial effusion, Ascites, Bone-marrow foam cells |
OMIM:256150 |
Omodysplasia 2 |
|
Short humerus, Micrognathia, Fibular hypoplasia, Hypoplastic distal humeri, Limited elbow flexion... |
OMIM:164745 |
Renpenning Syndrome |
|
Mandibular prognathia, Abnormal hairshaft morphology, Alopecia, Skeletal muscle atrophy, Microcep... |
ORPHA:3242 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Kyphosis, Small hand, Hip dislocation, Short foot, Scoliosis |
OMIM:300434 |
Immunodeficiency 68 |
|
Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell count |
OMIM:612260 |
Hurler Syndrome |
|
Abnormal clavicle morphology, Recurrent respiratory infections, Abnormal heart valve morphology, ... |
ORPHA:93473 |
Bloom Syndrome |
|
Bronchitis, Uveitis, Otitis media, Decreased circulating IgG level, Decreased proportion of CD4-p... |
ORPHA:125 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Recurrent respiratory infections, Tracheobronchial leiomyomatosis, Proteinuria, Vaginal neoplasm,... |
ORPHA:1018 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Thickened ribs, Flexion contracture, Abnormal tricuspid valve morphology, Abnormal vertebral morp... |
ORPHA:217085 |
Achondrogenesis Type 2 |
|
Micromelia, Hypoplastic ilia, Delayed proximal femoral epiphyseal ossification, Short long bone, ... |
ORPHA:93296 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Recurrent urinary tract infections, Sinusitis, Pneumonia, Decreased response to growth hormone st... |
OMIM:307200 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Osteopenia, Aortic regurgitation, Anomalous origin of left coronary artery from the pulmonary art... |
ORPHA:2326 |
Denys-Drash Syndrome |
|
Posterolateral diaphragmatic hernia, Neonatal respiratory distress, Congenital diaphragmatic hern... |
OMIM:194080 |
Shigellosis |
|
Pneumonia, Abscess, Hemolytic-uremic syndrome, Myocarditis, Peritonitis, Leukocytosis, Thrombocyt... |
ORPHA:810 |
Thoracolaryngopelvic Dysplasia |
|
Irregular chondrocostal junctions, Bell-shaped thorax, Irregular vertebral endplates, Short ribs,... |
OMIM:187760 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Hepatomegaly, Reticulocytosis, Anisocytosis, Anemia of inadequate production, S... |
OMIM:224120 |
Musculocontractural Ehlers-Danlos Syndrome |
|
Decreased muscle mass, Recurrent skin infections, Abnormal heart valve morphology, Cryptorchidism... |
ORPHA:2953 |
Ataxia-Telangiectasia-Like Disorder 2 |
|
Conjunctival telangiectasia, Joint contracture, Congenital diaphragmatic hernia, Cutaneous telang... |
OMIM:615919 |
Wiskott-Aldrich Syndrome |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... |
OMIM:301000 |
Diets-Jongmans Syndrome |
|
Inguinal hernia, Ventricular septal defect, Congenital diaphragmatic hernia, Polyhydramnios, Inte... |
OMIM:618846 |
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Lateral clavicle hook, Narrow chest, Short ribs, Horizontal ribs |
OMIM:617405 |
Classical Ehlers-Danlos Syndrome |
|
Osteopenia, Incisional hernia, Osteoarthritis, Generalized joint laxity, Shoulder dislocation, Ec... |
ORPHA:287 |
Nephronophthisis 1 |
|
Polyuria, Tubular basement membrane disintegration, Stage 5 chronic kidney disease, Hyposthenuria... |
OMIM:256100 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive |
|
Respiratory distress, Lymphocytic interstitial pneumonia |
OMIM:245590 |
Autosomal Spastic Paraplegia Type 72 |
|
Urinary bladder sphincter dysfunction |
ORPHA:401849 |
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive |
|
Purpura, Cerebral hemorrhage, Pulmonary embolism |
OMIM:614514 |
Benign Samaritan Congenital Myopathy |
|
Internally nucleated skeletal muscle fibers, Centrally nucleated skeletal muscle fibers |
ORPHA:324581 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Renal magnesium wasting, Nephrocalcinosis, Polyuria, Renal potassium wasting |
OMIM:618314 |
Genitopalatocardiac Syndrome |
|
Congenital diaphragmatic hernia, Kyphosis, Postaxial hand polydactyly, Abnormal cardiac septum mo... |
ORPHA:2075 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Mandibular prognathia, Sandal gap, Abnormal dental enamel morphology, Abnormal rib morphology, He... |
ORPHA:2180 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Single transverse palmar crease, Micromelia, Micrognathia, Delayed epiphyseal ossification, Flexi... |
OMIM:210710 |
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
Broad hallux, Complete atrioventricular canal defect, Postaxial hand polydactyly, 2-3 finger synd... |
OMIM:217085 |
Thanatophoric Dysplasia, Type Ii |
|
Small abnormally formed scapulae, Polyhydramnios, Hypoplastic ilia, Wide-cupped costochondral jun... |
OMIM:187601 |
Cockayne Syndrome Type 3 |
|
Skeletal muscle atrophy, Kyphosis, Basal ganglia calcification, Flexion contracture, Subdural hem... |
ORPHA:90324 |
Hall-Riggs Syndrome |
|
Metaphyseal dysplasia, Kyphosis, Osteoporosis, Irregular vertebral endplates, Platyspondyly, Scol... |
OMIM:234250 |
Mucolipidosis Type Ii |
|
Knee flexion contracture, Abnormal long bone morphology, Narrow chest, Otitis media, Patent foram... |
ORPHA:576 |
Myhre Syndrome |
|
Short neck, Hypoplastic iliac wing, Atrial septal defect, Broad ribs, Vertebral fusion, Pericardi... |
OMIM:139210 |
Lipodystrophy, Familial Partial, Type 5 |
|
Diabetic ketoacidosis, Lipodystrophy, Decreased adiponectin level, Decreased serum leptin |
OMIM:615238 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Syndactyly, Bowing of the long bones, Hypoplastic scapulae, Postaxial polydactyly, Micromelia, Fl... |
OMIM:614091 |
Encephalocraniocutaneous Lipomatosis |
|
Craniofacial hyperostosis, Cerebral calcification, Lipodystrophy, Bone cyst, Osteolysis, Coarctat... |
ORPHA:2396 |
Congenital Fiber-Type Disproportion Myopathy |
|
Congenital hip dislocation, Polyhydramnios, Flexion contracture, Knee flexion contracture, Aspira... |
ORPHA:2020 |
Overhydrated Hereditary Stomatocytosis |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase... |
OMIM:185000 |
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Micrognathia, Hypoplastic pubic bone, Flared metaphysis, Short long bone, Small epiphyses, Delaye... |
ORPHA:93346 |
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency |
|
Venous insufficiency, Purpura, Abnormal cerebral vascular morphology, Pulmonary embolism |
ORPHA:745 |
Hurler Syndrome |
|
Short neck, Metaphyseal widening, Flexion contracture, Hernia, Endocardial fibroelastosis, Hypopl... |
OMIM:607014 |
Dystonia 31 |
|
Abnormal posturing |
OMIM:619565 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hemolytic anemia, Hepatomegaly, Pneumonia, Autoimmunity, Splenomegaly, Myopathy, Chronic otitis m... |
ORPHA:169090 |
Myofibrillar Myopathy 10 |
|
Sandal gap, Ankle flexion contracture, Kyphosis, Elbow flexion contracture, Increased QRS voltage... |
OMIM:619040 |
Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Aortic regurgitation, Arachnodactyly, Kyphosis, Joint hyperflexibility, Shoulder dislocation, Sco... |
ORPHA:2181 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Kyphosis, Sacral dimple, Pulmonary cyst |
OMIM:618272 |
Insulin-Resistance Syndrome Type B |
|
Enlarged ovaries, Alopecia, Skin rash, Pneumonia, Proteinuria, Increased circulating IgA level, E... |
ORPHA:2298 |
Mucopolysaccharidosis, Type Iiic |
|
Thickened ribs, Kyphoscoliosis, Joint stiffness, Recurrent upper respiratory tract infections, Ov... |
OMIM:252930 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Thickened ribs, Flexion contracture, Abnormal tricuspid valve morphology, Abnormal vertebral morp... |
ORPHA:217093 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Respiratory distress, Cerebellar hemorrhage, Dehydration, Cardiomyopathy, Tubulointerstitial neph... |
OMIM:251000 |
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma |
|
Facial palsy, Interrupted aortic arch, Coarctation of aorta |
OMIM:107550 |
Mosaic Trisomy 14 |
|
Camptodactyly of finger, Abnormal rib morphology, Narrow chest |
ORPHA:1703 |
Succinic Acidemia |
|
Respiratory distress |
OMIM:600335 |
Radio-Renal Syndrome |
|
Respiratory distress, Short neck, Dyspnea, Hypoplasia of the radius, Abnormal rib morphology, Abn... |
ORPHA:3015 |
Osteogenesis Imperfecta, Type Xvi |
|
Osteopenia, Multiple rib fractures, Prolonged bleeding time, Angulated humerus, Bowing of the lon... |
OMIM:616229 |
Tako-Tsubo Cardiomyopathy |
|
Abnormal coronary artery morphology, Prolonged QTc interval, Mildly reduced left ventricular ejec... |
ORPHA:66529 |
Radius, Aplasia Of, With Cleft Lip/Palate |
|
Absent radius |
OMIM:179400 |
Ck Syndrome |
|
Hyperlordosis, Kyphosis, Scoliosis, Abnormal cortical bone morphology, Abnormal digit morphology,... |
OMIM:300831 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Osteopenia, Recurrent fractures, Kyphoscoliosis, Abnormal toe morphology, Abnormal finger morphol... |
OMIM:163200 |
Holoprosencephaly, Semilobar, With Craniosynostosis |
|
Hypoplastic vertebral bodies, Short distal phalanx of finger, Coxa valga |
OMIM:601370 |
Coffin-Siris Syndrome 1 |
|
Congenital diaphragmatic hernia, Prominent interphalangeal joints, Prominent fingertip pads, Atri... |
OMIM:135900 |
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Respiratory distress, Multiple joint contractures, Short neck, Secundum atrial septal defect, Met... |
ORPHA:99646 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Abnormal heart morphology, Asp... |
ORPHA:314655 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Syndactyly, Short metacarpal, Micrognathia, Camptodactyly, Absent palmar crease |
OMIM:614230 |
Cirrhotic Cardiomyopathy |
|
Abnormal bleeding, Prolonged QT interval, Elevated jugular venous pressure, Left atrial enlargeme... |
ORPHA:57777 |
Subaortic Stenosis-Short Stature Syndrome |
|
Inguinal hernia, Acne, Short neck, Kyphosis, Membranous subvalvular aortic stenosis, Respiratory ... |
ORPHA:3191 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Lymphedema, Periorbital edema, Cutaneous finger syndactyly, Hypoplastic iliac wing, Atrial septal... |
OMIM:235510 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Ventricular septal defect, Hypoplastic left heart, Abnormal rib morphology |
ORPHA:2772 |
Atrial Standstill 2 |
|
Atrial cardiomyopathy, Absent P wave, Scarring, Atrial standstill, Dilatation of the ventricular ... |
OMIM:615745 |
Becker Nevus Syndrome |
|
Pectus excavatum, Kyphosis, Rib fusion, Pectus carinatum, Supernumerary ribs, Scoliosis, Spina bi... |
ORPHA:64755 |
Multiple Pterygium Syndrome, X-Linked |
|
Vertebral fusion, Abnormal cervical curvature, Micrognathia, Flexion contracture, Thin ribs, Amyo... |
OMIM:312150 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Neonatal respiratory distress, Ventricular septal defect, Flexion contracture, Abnormal medullary... |
ORPHA:79243 |
Alpha-Mannosidosis, Adult Form |
|
Pancytopenia, Pneumonia, Oligosacchariduria, Hepatosplenomegaly, Macroglossia |
ORPHA:309288 |
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Kyphosis, Lumbar hyperlordosis, Scoliosis |
OMIM:616756 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Inguinal hernia, Eczema, Kyphosis, Abnormal heart morphology, Congenital contracture, Joint contr... |
ORPHA:352490 |
Anaplastic Thyroid Carcinoma |
|
Respiratory distress, Dyspnea, Upper airway obstruction, Abnormal skeletal muscle morphology, Str... |
ORPHA:142 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Vertebral compression fracture, C1-C2 subluxation, Kyphoscoliosis, Mitral valve prolapse |
OMIM:259600 |
Graft Versus Host Disease |
|
Skeletal muscle atrophy, Fasciitis, Myositis, Maculopapular exanthema, Pneumonia, Inflammatory ab... |
ORPHA:39812 |
Geroderma Osteodysplasticum |
|
Beaking of vertebral bodies, Hyperextensibility of the finger joints, Mandibular prognathia, Kyph... |
OMIM:231070 |
Congenital Enterovirus Infection |
|
Abnormal bleeding, Respiratory distress, Skin rash, Fetal ascites, Polyhydramnios, Pericardial ef... |
ORPHA:292 |
Borjeson-Forssman-Lehmann Syndrome |
|
Shortening of all middle phalanges of the fingers, Tapered finger, Kyphosis, Short toe, Shortenin... |
OMIM:301900 |
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency |
|
Abnormal cerebral vascular morphology, Pulmonary embolism, Venous insufficiency, Subcutaneous hem... |
ORPHA:743 |
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Left ventricular hypertrophy, Myopathy, Ragged-red muscle fibers, Stroke-like episode |
OMIM:540000 |
Trisomy 18 |
|
Omphalocele, Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia,... |
ORPHA:3380 |
Laryngotracheal Angioma |
|
Respiratory distress, Intercostal retractions, Apnea, Wheezing, Stridor, Cough |
ORPHA:137935 |
Familial Cervical Artery Dissection |
|
Facial palsy, Striae distensae, Thin skin |
ORPHA:36382 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Superior rib anomalies, Abnormality of the cervical spine |
OMIM:307500 |
Combined Oxidative Phosphorylation Deficiency 30 |
|
Left ventricular hypertrophy, Respiratory distress |
OMIM:616974 |
Isolated Right Ventricular Hypoplasia |
|
Cardiomegaly, Dyspnea, Muscular ventricular septal defect, Clubbing, Hypoxemia, Atrial septal def... |
ORPHA:439 |
Osteogenesis Imperfecta, Type Xvii |
|
Joint laxity, Decreased muscle mass, Bowed humerus, Thin long bone diaphyses, Kyphoscoliosis, Rec... |
OMIM:616507 |
Dysosteosclerosis |
|
Osteopenia, Sclerosis of hand bone, Increased intervertebral space, Hypoplastic vertebral bodies,... |
OMIM:224300 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Micrognathia, Short metatarsal, Clinodactyly of the 5th finger, Short phalanx of finger, Broad me... |
OMIM:266920 |
Xylt1-Cdg |
|
Pes planus, Coxa valga, Synophrys, Flared metaphysis, Short long bone, Short femoral neck, Short ... |
ORPHA:370930 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Short humerus, Short metacarpal, Rhizomelic arm shortening, Panniculitis, Brachydactyly |
ORPHA:508542 |
Idiopathic Aplastic Anemia |
|
Pancytopenia, Thrombocytopenia, Reticulocytopenia, Bone marrow hypocellularity, Neutropenia, Anemia |
ORPHA:88 |
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive |
|
Pulmonary embolism, Vitreous hemorrhage, Purpura |
OMIM:612304 |
Fibrochondrogenesis |
|
Omphalocele, Hypoplastic scapulae, Camptodactyly of finger, Short neck, Abnormal rib morphology, ... |
ORPHA:2021 |
Fanconi Anemia, Complementation Group B |
|
Ventricular septal defect, Short neck, Absent thumb, Patent ductus arteriosus, Abnormal lung loba... |
OMIM:300514 |
Ehlers-Danlos Syndrome, Dermatosparaxis Type |
|
Inguinal hernia, Micrognathia, Short toe, Atrophic scars, Limb undergrowth, Umbilical hernia, Sho... |
OMIM:225410 |
Rubinstein-Taybi Syndrome 1 |
|
Ventricular septal defect, Pectus excavatum, Respiratory tract infection, Patent ductus arteriosu... |
OMIM:180849 |
Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Scapular winging, Abnormality of the musculature of the lower limbs, Fatty replacement of skeleta... |
ORPHA:329478 |
Mosaic Variegated Aneuploidy Syndrome |
|
Aortic regurgitation, Apnea, Polyhydramnios, Rhabdomyosarcoma, Increased nuchal translucency, Abn... |
ORPHA:1052 |
Gamma-Heavy Chain Disease |
|
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... |
ORPHA:100026 |
Nephronophthisis 3 |
|
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... |
OMIM:604387 |
Congenital Disorder Of Glycosylation, Type It |
|
Tachycardia, Ventricular septal defect, Sudden cardiac death, Cardiomegaly, Dyspnea, Dilated card... |
OMIM:614921 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Bulging epiphyses, Recurrent fractures, Bowing of the legs, Enlargement of the costochondral junc... |
OMIM:241530 |
Diarrhea 12, With Microvillus Atrophy |
|
Respiratory tract infection, Bronchiectasis |
OMIM:619445 |
Pseudoaminopterin Syndrome |
|
Posterolateral diaphragmatic hernia, Inguinal hernia, Brachydactyly, Overlapping toe, Sagittal cr... |
ORPHA:221120 |
Focal Dermal Hypoplasia |
|
Congenital hip dislocation, Brittle hair, Congenital diaphragmatic hernia, Osteopathia striata, S... |
OMIM:305600 |
Cyclic Neutropenia |
|
Cyclic neutropenia, Perianal abscess, Cervical lymphadenopathy, Peritonitis, Recurrent tonsilliti... |
ORPHA:2686 |
Nance-Horan Syndrome |
|
Short phalanx of finger, Broad finger |
OMIM:302350 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Respiratory distress, Axial muscle stiffness |
ORPHA:240085 |
Myopathy, Myofibrillar, 8 |
|
Scapular winging, Centrally nucleated skeletal muscle fibers, Achilles tendon contracture, Joint ... |
OMIM:617258 |
Hurler-Scheie Syndrome |
|
Aortic regurgitation, Recurrent respiratory infections, Inguinal hernia, Camptodactyly of finger,... |
OMIM:607015 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Thrombocytopenia, Abnormality of the lymphatic system, Increased mean platelet volume |
ORPHA:487796 |
Transaldolase Deficiency |
|
Ventricular septal defect, Short neck, Patent ductus arteriosus, Asthma, Coarctation of aorta, Te... |
OMIM:606003 |
Wieacker-Wolff Syndrome |
|
Neonatal respiratory distress, Apnea, Facial palsy, Proximal placement of thumb, Hyperlordosis, S... |
OMIM:314580 |
Costello Syndrome |
|
Barrel-shaped chest, Ventricular septal defect, Short neck, Pneumothorax, Pectus carinatum, Mitra... |
OMIM:218040 |
Cutis Laxa, Autosomal Recessive, Type Iic |
|
Prominent superficial veins, Kyphoscoliosis, Pneumothorax, Mitral valve prolapse, Biventricular h... |
OMIM:617402 |
Digeorge Syndrome |
|
Impaired T cell function, Parathyroid hypoplasia, Hypoplasia of the thymus, Acne, Parathyroid age... |
OMIM:188400 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Reduced vital capacity, Pulmonary embolism, Increased pulmonary vascular resistance, Right ventri... |
ORPHA:70591 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Respiratory distress, Cerebral calcification, Rocker bottom foot, Atrial septal defect, Patent fo... |
ORPHA:89844 |
Loeffler Endocarditis |
|
Abnormal morphology of the chordae tendinae of the mitral valve, Pericarditis, Abnormal heart val... |
ORPHA:75566 |
Crisponi Syndrome |
|
Camptodactyly of finger, Sudden cardiac death, Kyphosis, Flexion contracture, Limitation of joint... |
ORPHA:1545 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Omphalocele, Ventricular septal defect, Diastasis recti, Polyhydramnios, Abnormal heart morpholog... |
ORPHA:254534 |
Rafiq Syndrome |
|
Highly arched eyebrow, Long eyebrows, Sparse eyebrow, Short neck, Flexion contracture, Cutis laxa... |
OMIM:614202 |
Hypomagnesemia 3, Renal |
|
Recurrent urinary tract infections, Polyuria, Hypocitraturia, Renal magnesium wasting, Chronic ki... |
OMIM:248250 |
Stüve-Wiedemann Syndrome |
|
Osteopenia, Respiratory distress, Apnea, Metaphyseal widening, Flexion contracture, Knee flexion ... |
ORPHA:3206 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... |
OMIM:194380 |
Malaria |
|
Respiratory distress |
ORPHA:673 |
Pseudohypoparathyroidism Type 1A |
|
Short metacarpal, Short fifth metatarsal, Broad 1st metacarpal, Short metatarsal, Short 3rd metac... |
ORPHA:79443 |
Erdheim-Chester Disease |
|
Renal insufficiency, Osteomyelitis, Skin rash, Hypogonadotropic hypogonadism, Dysuria, Abnormal p... |
ORPHA:35687 |
Immunodeficiency 77 |
|
Chronic pulmonary obstruction, Bronchiectasis, Cutaneous abscess |
OMIM:619223 |
Glycogen Storage Disease Ii |
|
Wolff-Parkinson-White syndrome, Recurrent respiratory infections, Right axis deviation, Subarachn... |
OMIM:232300 |
Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Exercise-induced rhabdomyolysis, Decreased muscle mass, Viral infection-induced rhabdomyolysis, S... |
ORPHA:57 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Finger syndactyly, Inguinal hernia, Overlapping fingers, Ventricular septal defect, Overlapping t... |
ORPHA:464738 |
Nephronophthisis 4 |
|
Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t... |
OMIM:606966 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Respiratory distress, Cardiac arrest, Myofiber disarray, Myopathy, Increased variability in muscl... |
OMIM:604377 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Splenomegaly, Leukocytosis |
OMIM:618042 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Osteopenia, Skeletal muscle atrophy, Inguinal hernia, Tricuspid regurgitation, Kyphoscoliosis, Po... |
OMIM:614557 |
Mucopolysaccharidosis Type 2 |
|
Irregularity of vertebral bodies, Abnormal tricuspid valve morphology, Abnormal mitral valve morp... |
ORPHA:580 |
Spinocerebellar Ataxia Type 25 |
|
Urinary urgency, Facial myokymia |
ORPHA:101111 |
Legius Syndrome |
|
Non-small cell lung carcinoma, Mitral valve prolapse, Abnormal sternum morphology, Pulmonic steno... |
ORPHA:137605 |
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression |
|
Rhabdomyolysis, Weakness of facial musculature, Ragged-red muscle fibers |
OMIM:618416 |
Kleefstra Syndrome |
|
Recurrent respiratory infections, Bicuspid aortic valve, Ventricular septal defect, Tracheomalaci... |
ORPHA:261494 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Bicuspid aortic valve, Short neck, Prominent fingertip pads, Atrial septal defect, Clinodactyly o... |
OMIM:612474 |
Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Pectus excavatum, Kyphosis, Pectus carinatum, Narrow chest, Scoliosis |
OMIM:300676 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Recurrent sinopulmonary infections, Enterocolitis, Ulcerative colitis, Decreased proportion of cl... |
OMIM:614878 |
Acquired Methemoglobinemia |
|
Respiratory distress, Tachycardia, Dyspnea, Hypoxemia, Syncope, Palpitations, Arrhythmia |
ORPHA:464453 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Shortening of the talar neck, Bowing of the legs, Enamel hypomineralization, Trapezoidal distal f... |
OMIM:307800 |
Congenital Myopathy 4A, Autosomal Dominant |
|
Type 1 fibers relatively smaller than type 2 fibers, Limb joint contracture, Facial palsy, Centra... |
OMIM:255310 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Ventricular hypertrophy, Bicuspid aortic valve, Ventricular septal defect, Patent ductus arterios... |
ORPHA:284169 |
Toxic Epidermal Necrolysis |
|
Respiratory distress, Recurrent respiratory infections, Renal insufficiency, Dysuria, Abnormal pl... |
ORPHA:537 |
Lacrimoauriculodentodigital Syndrome 1 |
|
Hypoplasia of the ulna, Broad hallux, Absent radius, Short thumb, Partial duplication of thumb ph... |
OMIM:149730 |
Geroderma Osteodysplastica |
|
Beaking of vertebral bodies, Mandibular prognathia, Redundant skin, Hip dislocation, Abnormal for... |
ORPHA:2078 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
Pituitary Adenoma 4, Acth-Secreting |
|
Skeletal muscle atrophy, Striae distensae, Kyphosis, Facial erythema, Thin skin, Biconcave verteb... |
OMIM:219090 |
Holzgreve Syndrome |
|
Abnormally ossified vertebrae, Abnormal morphology of ulna, Joint stiffness, Abnormal rib morphol... |
ORPHA:2167 |
Multiple Pterygium Syndrome, Lethal Type |
|
Vertebral fusion, Abnormal cervical curvature, Micrognathia, Flexion contracture, Thin ribs, Amyo... |
OMIM:253290 |
Absent Radius-Anogenital Anomalies Syndrome |
|
Hypoplasia of the radius, Ectrodactyly, Oligodactyly |
ORPHA:3016 |
Van Maldergem Syndrome 2 |
|
Short fourth metatarsal, Ulnar deviation of the hand, Inguinal hernia, Micrognathia, High anterio... |
OMIM:615546 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Bulging epiphyses, Recurrent fractures, Bowing of the legs, Subperiosteal bone resorption, Enlarg... |
OMIM:264700 |
Stevens-Johnson Syndrome |
|
Recurrent respiratory infections, Renal insufficiency, Dysuria, Abnormal pleura morphology, Abnor... |
ORPHA:36426 |
Caffey Disease |
|
Tibial bowing, Periosteal thickening of long tubular bones, Bowing of the legs |
OMIM:114000 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6 |
|
Pancytopenia, Lymphopenia, Bone marrow hypocellularity, Abnormally low T cell receptor excision c... |
OMIM:619767 |
Gray Platelet Syndrome |
|
Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Splenomegaly, ... |
OMIM:139090 |
Cleidocranial Dysplasia 2 |
|
Pes planus, Down-sloping shoulders, Aplastic clavicle, Coxa valga, Genu valgum, Delayed ossificat... |
OMIM:620099 |
Stapes Ankylosis With Broad Thumbs And Toes |
|
Toe syndactyly, Broad hallux, Proximal/middle symphalangism of 5th finger, Broad thumb, Short dis... |
OMIM:184460 |
Mogs-Cdg |
|
Respiratory distress, Hepatomegaly, Alopecia, Fair hair, Thoracic scoliosis, Apnea, Hypoventilati... |
ORPHA:79330 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Acute rhabdomyolysis, Camptodactyly of finger, Kyphosis, Osteoporosis, Scoliosis, Abnormality of ... |
ORPHA:48431 |
Cln3 Disease |
|
Acne, Vacuolated lymphocytes, Left ventricular hypertrophy, Urinary bladder sphincter dysfunction... |
ORPHA:228346 |
X-Linked Hypophosphatemia |
|
Beaded ribs, Bowing of the legs, Generalized osteosclerosis, Trapezoidal distal femoral condyles,... |
ORPHA:89936 |
Sialidosis Type 1 |
|
Skeletal muscle atrophy, Kyphosis, Short thorax, Abnormal form of the vertebral bodies, Pectus ca... |
ORPHA:812 |
22Q11.2 Deletion Syndrome |
|
Impaired T cell function, Abnormal lung lobation, Abnormal aortic arch morphology, Hypoplasia of ... |
ORPHA:567 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Skeletal muscle atrophy, Facial palsy, Triceps weakness, Weakness of long finger extensor muscles... |
ORPHA:98913 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Short long bone, Talipes equinovarus |
OMIM:618845 |
Mercury Poisoning |
|
Respiratory distress, Tachycardia, Dyspnea, Hypertension, Interstitial pneumonitis, Respiratory f... |
ORPHA:330021 |
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay |
|
Congenital diaphragmatic hernia, Respiratory insufficiency, Abnormal heart morphology, Vascular d... |
OMIM:617641 |
Mesomelic Dysplasia, Kantaputra Type |
|
Tarsal synostosis, Camptodactyly of finger, Abnormality of the humerus, Abnormal rib morphology, ... |
ORPHA:1836 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Pneumoni... |
OMIM:600802 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Ventricular septal defect, Kyphoscoliosis, Hyperlordosis, Pectus excavatum, Abnormal heart morpho... |
ORPHA:363700 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Back pain, Aortic regurgitation, Torticollis, Osteomyelitis, Bicuspid aortic valve, Ventricular s... |
OMIM:619475 |
Aicardi-Goutieres Syndrome 7 |
|
Hemolytic anemia, Atrophic gastritis, Pancytopenia, Skin rash, Pneumonia, Chilblains, Hepatomegal... |
OMIM:615846 |
Three M Syndrome 2 |
|
Relative macrocephaly, Delayed eruption of teeth, Scapular winging, Lumbar hyperlordosis, Short n... |
OMIM:612921 |
Fanconi Anemia, Complementation Group P |
|
Short thumb, Hypoplasia of the radius, Micrognathia, Absent thumb |
OMIM:613951 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macrocephaly, Kyphoscoliosis, Cardiomegaly |
OMIM:300886 |
Ablepharon-Macrostomia Syndrome |
|
Ventral hernia, Absent eyebrow, Short metacarpal, Toe syndactyly, Omphalocele, Absent eyelashes, ... |
OMIM:200110 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Ragged-red muscle fibers, Flexion contracture, Left ventricular noncompaction, Increased intramyo... |
OMIM:252011 |
Williams Syndrome |
|
Osteopenia, Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, Periorbit... |
ORPHA:904 |
Neurooculocardiogenitourinary Syndrome |
|
Redundant neck skin, Ventricular septal defect, Cardiomegaly, Secondary microcephaly, Atrial sept... |
OMIM:618652 |
Alpha-Mannosidosis, Infantile Form |
|
Osteopenia, Thickened ribs, Short neck, Pectus carinatum, Cortical thickening of long bone diaphy... |
ORPHA:309282 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Osteopenia, Short distal phalanx of the thumb, Neonatal respiratory distress, Psoriasiform dermat... |
ORPHA:221139 |
Weill-Marchesani Syndrome 1 |
|
Lumbar hyperlordosis, Ventricular septal defect, Joint stiffness, Broad metatarsal, Patent ductus... |
OMIM:277600 |
Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... |
ORPHA:3202 |
Autosomal Recessive Progressive External Ophthalmoplegia |
|
Scapular winging, Facial palsy, Hand muscle weakness, Ragged-red muscle fibers, Myopathy, Muscle ... |
ORPHA:254886 |
Hb Bart'S Hydrops Fetalis |
|
Splenomegaly, Hepatomegaly, Abnormal hemoglobin, Anemia |
ORPHA:163596 |
Juvenile Dermatomyositis |
|
Gastrointestinal hemorrhage, Bundle branch block, Pericarditis, Myositis, Angina pectoris, Palpeb... |
ORPHA:93672 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Omphalocele, Syndactyly, Micrognathia, Webbed neck, Mesomelia, Long eyelashes, Camptodactyly, Cli... |
OMIM:616894 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3 |
|
Pneumonia |
OMIM:608033 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Omphalocele, Inguinal hernia, Diastasis recti, Polyhydramnios, Pectus excavatum, Flexion contract... |
ORPHA:254528 |
Urban-Rogers-Meyer Syndrome |
|
Toe syndactyly, Camptodactyly of finger, Recurrent fractures, Short neck, Kyphosis, Osteoporosis,... |
ORPHA:3409 |
Pontocerebellar Hypoplasia, Type 17 |
|
Ventricular septal defect, Secundum atrial septal defect, Kyphosis, Patent ductus arteriosus, Res... |
OMIM:619909 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Spinal muscular atrophy, Patent ductus arteriosus, Flexion contracture, Increased variability in ... |
OMIM:616866 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Splenomegaly, Pancytopenia, Hemophagocytosis, Anemia |
OMIM:618398 |
Letterer-Siwe Disease |
|
Jaundice, Hepatosplenomegaly, Anemia, Neutropenia, Thrombocytopenia |
OMIM:246400 |
Autosomal Recessive Spastic Paraplegia Type 53 |
|
Kyphosis, Pectus carinatum |
ORPHA:319199 |
Shwachman-Diamond Syndrome |
|
Normocytic anemia, Sinusitis, Aplastic anemia, Transient neutropenia, Decreased response to growt... |
ORPHA:811 |
Microphthalmia, Syndromic 2 |
|
Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Hypoplastic aortic arch, Mitra... |
OMIM:300166 |
Roberts-Sc Phocomelia Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Short humerus, Ankle flexion contracture, Aplasia of the ulna... |
OMIM:268300 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Inflammatory abnormality of the skin, Angina pectoris, Dyspnea, Increased muscle lipid content, A... |
ORPHA:565612 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Edema, Pulmonary embolism, Budd-Chiari syndrome, Recurrent lower respiratory tract infections, In... |
OMIM:226300 |
Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
|
Slender long bone, Abnormal pelvic girdle bone morphology, Abnormal rib morphology, Macrocephaly |
ORPHA:1506 |
Mitochondrial Pyruvate Carrier Deficiency |
|
Respiratory distress |
OMIM:614741 |
Auriculocondylar Syndrome 2A |
|
Respiratory distress, Apnea |
OMIM:614669 |
Striatonigral Degeneration, Infantile, Mitochondrial |
|
Ragged-red muscle fibers |
OMIM:500003 |
Fanconi Anemia, Complementation Group I |
|
Short thumb, Hypoplasia of the radius, Short 1st metacarpal, Absent thumb |
OMIM:609053 |
Van Maldergem Syndrome 1 |
|
Short fourth metatarsal, Micrognathia, Abnormal foot morphology, Cutaneous finger syndactyly, Sho... |
OMIM:601390 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Kyphosis, Scoliosis |
ORPHA:101075 |
Thrombophilia Due To Protein S Deficiency, Autosomal Dominant |
|
Purpura, Pulmonary embolism |
OMIM:612336 |
Alg1-Cdg |
|
Kyphosis, Abnormal heart morphology, Scoliosis, Cardiomyopathy |
ORPHA:79327 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... |
OMIM:619849 |
Laryngomalacia |
|
Respiratory distress, Congenital laryngeal stridor |
OMIM:150280 |
Campomelic Dysplasia |
|
11 pairs of ribs, Poorly ossified cervical vertebrae, Bowing of the long bones, Small abnormally ... |
ORPHA:140 |
Mucopolysaccharidosis Type 3 |
|
Abnormal clavicle morphology, Cardiomegaly, Synophrys, Flexion contracture, Abnormal form of the ... |
ORPHA:581 |
Nephronophthisis 11 |
|
Polyuria, Tubular basement membrane disintegration, Stage 5 chronic kidney disease, Renal cortico... |
OMIM:613550 |
Osteopathia Striata With Cranial Sclerosis |
|
Apnea, Polyhydramnios, Craniofacial osteosclerosis, Osteopathia striata, Atrial septal defect, Br... |
OMIM:300373 |
Episodic Ataxia Type 1 |
|
Respiratory distress, Calf muscle hypertrophy, Kyphoscoliosis, Scoliosis |
ORPHA:37612 |
Mirage Syndrome |
|
Rocker bottom foot, Radial club hand, Patent ductus arteriosus, Intracranial hemorrhage, Scoliosi... |
OMIM:617053 |
Intellectual Disability, Buenos-Aires Type |
|
Mandibular prognathia, Microcephaly, Dental malocclusion, Fine hair, Pectus carinatum, Abnormal p... |
ORPHA:3079 |
Proximal Myopathy With Extrapyramidal Signs |
|
Increased variability in muscle fiber diameter, Central core regions in muscle fibers, Centrally ... |
ORPHA:401768 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Fibrofatty replacement of right ventricular myocardium, Right ventricular cardiomyopathy, Prolong... |
OMIM:609040 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Short toe, Cone-shaped epiphyses of the phalanges of the hand, Clinodactyly of the 5th finger, La... |
OMIM:619269 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Kyphosis, Platyspondyly, Osteoporosis |
ORPHA:2786 |
Cog1-Cdg |
|
Osteopenia, Irregularity of vertebral bodies, Kyphoscoliosis, Short neck, Coxa valga, Rib fusion,... |
ORPHA:263508 |
Combined Oxidative Phosphorylation Deficiency 49 |
|
Ragged-red muscle fibers |
OMIM:619024 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Skeletal muscle atrophy, Cardiomegaly, Myopathy, Distal arthrogryposis, Macrocephal... |
ORPHA:42 |
Ulbright-Hodes Syndrome |
|
Short humerus, Short metacarpal, Micrognathia, Humeroradial synostosis, Hypoplasia of the radius,... |
ORPHA:3404 |
Yuan-Harel-Lupski Syndrome |
|
Joint laxity, Ventricular septal defect, Bicuspid aortic valve, Sandal gap, Aortic root aneurysm,... |
OMIM:616652 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory distress, Dilated cardiomyopathy, Tachypnea, Respiratory insufficiency, Respiratory f... |
OMIM:614299 |
Radial Aplasia, X-Linked |
|
Absent radius |
OMIM:312190 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Aortic regurgitation, Ventricular septal defect, Craniosynostosis, Abnormal lung lobation, Coarct... |
OMIM:614114 |
Diaphragmatic Hernia 2 |
|
Agenesis of the diaphragm, Congenital diaphragmatic hernia |
OMIM:222400 |
Dysostosis, Stanescu Type |
|
Increased bone mineral density, Bowing of the long bones, Cerebral calcification, Abnormal dental... |
ORPHA:1798 |
Radial-Renal Syndrome |
|
Absent radius, Absent thumb |
OMIM:179280 |
Adult-Onset Still Disease |
|
Hepatomegaly, Pericarditis, Cartilage destruction, Myocarditis, Splenomegaly, Recurrent pharyngit... |
ORPHA:829 |
Pandas |
|
Enuresis, Recurrent streptococcus pneumoniae infections |
ORPHA:66624 |
Cryptococcosis |
|
Respiratory distress, Osteomyelitis, Lymphoid leukemia, Pneumonia, Nodular pattern on pulmonary H... |
ORPHA:1546 |
Arboleda-Tham Syndrome |
|
Respiratory distress, Secundum atrial septal defect, Long thorax, Conjunctivitis, Narrow chest, A... |
OMIM:616268 |
Cardiomyopathy, Dilated, 2D |
|
Perinuclear cardiomyocyte vacuolization, Muscular ventricular septal defect, Dilated cardiomyopat... |
OMIM:619371 |
Hajdu-Cheney Syndrome |
|
Osteopenia, Short neck, Pectus carinatum, Periodontitis, Hernia, Decreased skull ossification, Pa... |
ORPHA:955 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly... |
ORPHA:98849 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Thoracic scoliosis, Bicuspid aortic valve, Short neck, Generalized joint laxity, Thoracic kyphosi... |
ORPHA:508498 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Palpebral edema, Edema, Pulmonary embolism, Facial edema, Dyspnea, Respiratory tract infection, P... |
ORPHA:567546 |
Lymphedema-Distichiasis Syndrome |
|
Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Ventricular septal defect, Lymphe... |
OMIM:153400 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Ventricular septal defect, Abnormal right ventricle morphology, Mitral valve prolapse, Varicose v... |
ORPHA:500095 |
Rett Syndrome |
|
Agitation, Increased serum leptin, Failure to thrive, Abnormal repetitive mannerisms, Stereotypic... |
ORPHA:778 |
Masa Syndrome |
|
Kyphosis, Hyperlordosis |
OMIM:303350 |
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
|
Hypoplastic distal segments of scapulae, Micrognathia, Pectus excavatum, Abnormal rib morphology,... |
OMIM:602196 |
Acute Panmyelosis With Myelofibrosis |
|
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy... |
ORPHA:86843 |
Autosomal Recessive Centronuclear Myopathy |
|
Hip contracture, Scapular winging, Facial palsy, Centrally nucleated skeletal muscle fibers, Faci... |
ORPHA:169186 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Short humerus, Microcephaly, Micrognathia, Flexion contracture, Epiphyseal stippling, Abnormal pe... |
OMIM:222765 |
Thauvin-Robinet-Faivre Syndrome |
|
Varicose veins, Ventricular septal defect, Mitral valve prolapse |
OMIM:617107 |
Beck-Fahrner Syndrome |
|
Facial hypotonia, Ventricular septal defect, Microcephaly, Cardiomegaly, Hip dysplasia, Macrocephaly |
OMIM:618798 |
Cystinosis, Nephropathic |
|
Skeletal muscle atrophy, Renal insufficiency, Hyperphosphaturia, Proteinuria, Polyuria, Hepatomeg... |
OMIM:219800 |
Senior-Loken Syndrome 3 |
|
Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisis |
OMIM:606995 |
Weaver Syndrome |
|
Mandibular prognathia, Short fourth metatarsal, Calcaneovalgus deformity, Hypoplastic iliac wing,... |
OMIM:277590 |
Spastic Paraplegia 12, Autosomal Dominant |
|
Urinary urgency, Urinary bladder sphincter dysfunction, Lower limb muscle weakness, Urinary incon... |
OMIM:604805 |
Otopalatodigital Syndrome Type 2 |
|
Preaxial polydactyly, Narrow chest, Short palm, Abnormal vertebral segmentation and fusion, Synos... |
ORPHA:90652 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Broad long bones, Micromelia, Bowing of the legs, Hypoplastic ilia, Micrognathia, Flexion contrac... |
ORPHA:1865 |
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency |
|
Renal tubular acidosis, Organic aciduria, Pancreatitis, Aspiration pneumonia |
ORPHA:431361 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Skeletal muscle atrophy, Congenital muscular torticollis, Inguinal hernia, Finger syndactyly, Cam... |
ORPHA:2215 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Bowing of the legs, Delayed epiphyseal ossification, Metaphyseal widening, Flared metaphysis, Sho... |
ORPHA:93352 |
Noonan Syndrome 12 |
|
Lymphopenia, Thrombocytopenia |
OMIM:618624 |
Limb Body Wall Complex |
|
Ventral hernia, Ventricular septal defect, Diastasis recti, Congenital diaphragmatic hernia, Broa... |
ORPHA:2369 |
Alveolar Echinococcosis |
|
Low back pain, Pulmonary cyst, Abnormal pelvis bone morphology, Abnormal pericardium morphology, ... |
ORPHA:284 |
White-Sutton Syndrome |
|
Ventral hernia, Inguinal hernia, Facial hypotonia, Congenital diaphragmatic hernia, Abnormal hear... |
ORPHA:468678 |
Vitamin D-Dependent Rickets, Type 2A |
|
Bulging epiphyses, Recurrent fractures, Bowing of the legs, Subperiosteal bone resorption, Delaye... |
OMIM:277440 |
Gaucher Disease, Perinatal Lethal |
|
Respiratory distress, Hepatomegaly, Apnea, Thoracic hypoplasia, Microcephaly, Cardiomegaly, Splen... |
OMIM:608013 |
Tarp Syndrome |
|
Rocker bottom foot, Postaxial polydactyly, Single transverse palmar crease, Micrognathia, Hypopla... |
OMIM:311900 |
Achondrogenesis, Type Ii |
|
Barrel-shaped chest, Absent vertebral body mineralization, Broad long bones, Edema, Polyhydramnio... |
OMIM:200610 |
14Q22Q23 Microdeletion Syndrome |
|
Finger syndactyly, Toe syndactyly, Micrognathia, Short foot, Short palm, Clinodactyly of the 5th ... |
ORPHA:264200 |
Spastic Paraplegia 13, Autosomal Dominant |
|
Urinary urgency, Urinary bladder sphincter dysfunction, Lower limb muscle weakness, Urinary incon... |
OMIM:605280 |
Spastic Paraplegia 19, Autosomal Dominant |
|
Urinary urgency, Urinary bladder sphincter dysfunction, Lower limb muscle weakness, Urinary incon... |
OMIM:607152 |
Immunodeficiency 91 And Hyperinflammation |
|
Hepatomegaly, Neutrophilia, Lymphadenopathy, Hepatosplenomegaly, Monocytosis, Hemophagocytosis, T... |
OMIM:619644 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Skeletal muscle atrophy, Secundum atrial septal defect, Coarctation of aorta, Prolonged prothromb... |
OMIM:614300 |
Good Syndrome |
|
Abnormal leukocyte morphology, Recurrent respiratory infections, Recurrent urinary tract infectio... |
ORPHA:169105 |
Combined Oxidative Phosphorylation Deficiency 25 |
|
Intraventricular hemorrhage, Syndactyly, Aspiration pneumonia, Pectus carinatum |
OMIM:616430 |
Sifrim-Hitz-Weiss Syndrome |
|
Ventricular septal defect, Tapered finger, Patent ductus arteriosus, Flat acetabular roof, Coarct... |
OMIM:617159 |
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Ventricular septal defect, Thoracolumbar scoliosis, Short neck, Pectus excavatum, Patent ductus a... |
OMIM:300472 |
Immunodeficiency 67 |
|
Liver abscess, Transient neutropenia |
OMIM:607676 |
Immunodeficiency 85 And Autoimmunity |
|
T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased pr... |
OMIM:619510 |
Gitelman Syndrome |
|
Polyuria, Renal magnesium wasting, Rhabdomyolysis, Enuresis, Hypocalciuria, Nocturia, Renal potas... |
OMIM:263800 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Scapular winging, Dilated cardiomyopathy, Mitral valve prolapse |
OMIM:607459 |
Lethal Acantholytic Erosive Disorder |
|
Absent eyebrow, Natal tooth, Cardiomegaly, Absent eyelashes, 4-5 finger syndactyly, 2-3 finger sy... |
ORPHA:158687 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Postaxial hand polydactyly, Cone-shaped epiphyses of the phalanges of the hand, Genu valgum, Shor... |
OMIM:615630 |
Poems Syndrome |
|
Sclerosis of hand bone, Lipodystrophy, Sclerosis of foot bone, Edema, Pericardial effusion, Respi... |
ORPHA:2905 |
Cousin Syndrome |
|
Micrognathia, Prominent protruding coccyx, Low anterior hairline, Hypoplastic iliac wing, Clinoda... |
OMIM:260660 |
Neurooculorenal Syndrome |
|
Patent foramen ovale, Tetralogy of Fallot with pulmonary stenosis, Dextrocardia, Mitral valve pro... |
OMIM:620305 |
Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Respiratory distress, Lipoatrophy, Oligohydramnios |
ORPHA:261304 |
Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Situs inversus totalis, Decreased nasal nitric oxide, Bronchiectasis, Productive cough |
OMIM:615434 |
Wiskott-Aldrich Syndrome |
|
Sinusitis, Intracranial hemorrhage, Inflammation of the large intestine, Conjunctivitis, Otitis m... |
ORPHA:906 |
Familial Multiple Nevi Flammei |
|
Edema, Pulmonary embolism, Venous insufficiency, Intracranial hemorrhage, Arteriovenous malformat... |
ORPHA:624 |
Leukocyte Adhesion Deficiency |
|
Sinusitis, Severe periodontitis, Conjunctivitis, Otitis media, Vaginitis, Polycythemia, Perianal ... |
ORPHA:2968 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Osteopenia, Gastrointestinal hemorrhage, Inguinal hernia, Congenital hip dislocation, Arachnodact... |
OMIM:225400 |
Ethylene Glycol Poisoning |
|
Renal insufficiency, Gastritis, Facial palsy, Tachypnea, Episodic respiratory distress, Renal tub... |
ORPHA:31826 |
Craniometaphyseal Dysplasia, Autosomal Dominant |
|
Mandibular prognathia, Facial palsy, Metaphyseal widening, Flared metaphysis, Abnormal pelvic gir... |
OMIM:123000 |
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Abnormal heart valve morphology, Pulmonary embolism, Congestive heart failure, Hypertension, Hype... |
ORPHA:1345 |
Cerebrocostomandibular Syndrome |
|
Rib gap, 10 pairs of ribs, 11 pairs of ribs, Neonatal respiratory distress, Anomalous rib inserti... |
OMIM:117650 |
Myopathy, Centronuclear, 5 |
|
Hip contracture, Weakness of facial musculature, Centrally nucleated skeletal muscle fibers |
OMIM:615959 |
Myotonic Dystrophy 1 |
|
Respiratory distress, Atrial flutter, Atrial fibrillation, First degree atrioventricular block, P... |
OMIM:160900 |
Hyperzincemia With Functional Zinc Depletion |
|
Skin rash, Vasculitis, Osteoporosis |
OMIM:601979 |
Cole-Carpenter Syndrome 2 |
|
Osteopenia, Recurrent fractures, Pectus excavatum, Kyphosis, Thin ribs, Platyspondyly, Lambdoidal... |
OMIM:616294 |
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Calf muscle hypertrophy, Myopathy, Increased variability in muscle fiber diameter, Pelvic girdle ... |
ORPHA:119 |
Senior-Loken Syndrome 1 |
|
Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen... |
OMIM:266900 |
Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Megacystis, Polyuria |
OMIM:125800 |
Helsmoortel-Van Der Aa Syndrome |
|
Recurrent respiratory infections, Hyperlordosis, Pectus excavatum, Abnormal heart morphology, Mit... |
OMIM:615873 |
X-Linked Mandibulofacial Dysostosis |
|
Pectus excavatum, Abnormality of the pulmonary artery, Abnormal mitral valve morphology, Pulmonic... |
ORPHA:1131 |
Microcephalic Primordial Dwarfism, Montreal Type |
|
Lipoatrophy, Kyphosis, Reduced bone mineral density, Vertebral segmentation defect, Scoliosis, Sh... |
ORPHA:2617 |
Charge Syndrome |
|
Aortic arch aneurysm, Facial palsy, Polyhydramnios, Patent ductus arteriosus, Abnormal tibia morp... |
ORPHA:138 |
Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Megacystis, Polyuria |
OMIM:304800 |
Immunoneurologic Disorder, X-Linked |
|
Decreased circulating IgG2 level, Functional abnormality of the bladder |
OMIM:300076 |
Autosomal Dominant Spastic Paraplegia Type 13 |
|
Urinary urgency, Urinary bladder sphincter dysfunction, Lower limb muscle weakness, Urinary incon... |
ORPHA:100994 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Aplasia/Hypoplasia of the clavicles, Alopecia, Abnormal fingertip morphology, Micrognathia, Abnor... |
ORPHA:90154 |
Arthrogryposis, Distal, Type 4 |
|
Osteopenia, Torticollis, 2-5 finger cutaneous syndactyly, Kyphosis, Camptodactyly of 2nd-5th fing... |
OMIM:609128 |
Congenital Toxoplasmosis |
|
Hepatomegaly, Microcephaly, Cardiomegaly |
ORPHA:858 |
Mucolipidosis Iii Alpha/Beta |
|
Soft tissue swelling of interphalangeal joints, Irregular carpal bones, Split hand, Short long bo... |
OMIM:252600 |
Mohr-Tranebjaerg Syndrome |
|
Abnormal posturing, Intrinsic hand muscle atrophy |
OMIM:304700 |
Adenine Phosphoribosyltransferase Deficiency |
|
Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Chronic kidney dis... |
ORPHA:976 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Kyphosis, Scoliosis |
ORPHA:101078 |
Muscular Dystrophy, Congenital, Megaconial Type |
|
Myopathy, Increased endomysial connective tissue, Facial palsy, Muscular dystrophy |
OMIM:602541 |
Ebstein Malformation Of The Tricuspid Valve |
|
Abnormal endocardium morphology, Patent ductus arteriosus, Ebstein anomaly of the tricuspid valve... |
ORPHA:1880 |
Mitochondrial Dna-Related Progressive External Ophthalmoplegia |
|
Ragged-red muscle fibers, Abnormal mitochondria in muscle tissue |
ORPHA:663 |
Immunodeficiency 49 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno... |
OMIM:617237 |
Mucopolysaccharidosis, Type Iiid |
|
Thoracic scoliosis, Thickened ribs, Short neck, Synophrys, Ovoid thoracolumbar vertebrae, Hypopla... |
OMIM:252940 |
Immune-Mediated Necrotizing Myopathy |
|
Skeletal muscle atrophy, Scapular winging, Myositis, Proximal muscle weakness in lower limbs, Myo... |
ORPHA:206569 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
11 pairs of ribs, Metaphyseal cupping of proximal phalanges, Thin ribs, Metaphyseal cupping of me... |
OMIM:300863 |
Amyotrophic Lateral Sclerosis 21 |
|
Centrally nucleated skeletal muscle fibers, Hand muscle weakness, Shoulder girdle muscle weakness... |
OMIM:606070 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Hyperextensibility of the finger joints, Polyhydramnios, Short neck, Hemivertebrae, Narrow chest,... |
OMIM:213980 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Ventricular septal defect, Decreased response to growth hormone stimulation test, Congestive hear... |
ORPHA:444077 |
Cranioectodermal Dysplasia 4 |
|
Pectus excavatum, Recurrent pneumonia, Decreased nasal nitric oxide, Cutis laxa, Hip dysplasia, C... |
OMIM:614378 |
Renal Hypoplasia, Bilateral |
|
Neonatal respiratory distress, Proteinuria, Cryptorchidism, Chronic kidney disease, Renal hypopla... |
ORPHA:97362 |
Sporadic Creutzfeldt-Jakob Disease |
|
Respiratory failure requiring assisted ventilation, Recurrent aspiration pneumonia |
ORPHA:204 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Respiratory distress |
OMIM:612075 |
Pycnodysostosis |
|
Joint laxity, Abnormal clavicle morphology, Increased bone mineral density, Brachydactyly, Hyperl... |
ORPHA:763 |
Spastic Paraplegia 3, Autosomal Dominant |
|
Distal lower limb amyotrophy, Urinary incontinence, Urinary urgency, Urinary bladder sphincter dy... |
OMIM:182600 |
Fibrous Dysplasia Of Bone |
|
Abnormal clavicle morphology, Abnormal tibia morphology, Abnormal femur morphology, Coxa vara, Pa... |
ORPHA:249 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Scapular winging, Ventricular septal defect, Sandal gap, Tapered finger, Pectus excavatum, Kyphos... |
OMIM:617061 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Pectus excavatum, Pneumothorax, Mitral valve prolapse, Scoliosis, Tricuspid valve prolapse, Atria... |
OMIM:601776 |
Sickle Cell Disease |
|
Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Jaundice, Leukocytosis, Splenic infar... |
OMIM:603903 |
Immunodeficiency 56 |
|
Recurrent respiratory infections, Cholangitis, Recurrent pneumonia, Bronchiectasis, Recurrent sin... |
OMIM:615207 |
Immunodeficiency 65, Susceptibility To Viral Infections |
|
Stomatitis, Bronchiectasis |
OMIM:618648 |
Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Pedal ed... |
ORPHA:75565 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Vertebral segmentation defect, Abnormal rib morphology, Short neck |
ORPHA:2578 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Curly hair, Obtuse angle of mandible, Short tubular bones of the hand, Coxa valga, Micrognathia, ... |
ORPHA:85184 |
Immunodeficiency 12 |
|
Skin rash, Abnormal lymphocyte count, Cheilitis, Bronchiectasis, Absent isohemagglutinin level, R... |
OMIM:615468 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Pulmona... |
OMIM:610655 |
Acrocardiofacial Syndrome |
|
Hallux valgus, Finger syndactyly, Toe syndactyly, Mitral stenosis, Ventricular septal defect, Cam... |
ORPHA:2008 |
Intellectual Developmental Disorder, X-Linked 90 |
|
Enuresis |
OMIM:300850 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Apnea, Proximal femoral metaphyseal irregularity, Tachypnea, Early ossification of capital femora... |
ORPHA:397715 |
Scarf Syndrome |
|
Diastasis recti, Short neck, Abnormal form of the vertebral bodies, Low posterior hairline, Cutis... |
ORPHA:3134 |
Infantile Krabbe Disease |
|
Respiratory distress, Abnormal heart rate variability, Respiratory failure, Shoulder girdle muscl... |
ORPHA:206436 |
Folinic Acid-Responsive Seizures |
|
Respiratory distress, Apnea |
ORPHA:79097 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Hallux valgus, Dilation of Virchow-Robin spaces, Sandal gap, Camptodactyly of finger, Rocker bott... |
OMIM:619951 |
Pallister-Hall Syndrome |
|
Syndactyly, Mesoaxial foot polydactyly, Y-shaped metacarpals, Toe syndactyly, Mesoaxial hand poly... |
OMIM:146510 |
Spastic Paraplegia Type 7 |
|
Upper limb muscle weakness, Lower limb hypertonia, Ragged-red muscle fibers, Lower limb muscle we... |
ORPHA:99013 |
Floating-Harbor Syndrome |
|
11 pairs of ribs, Brachydactyly, Ivory epiphyses of the distal phalanges of the hand, Inguinal he... |
OMIM:136140 |
Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Congenital hip dislocation, Pectus excavatum, Hip dislocation, Cutis laxa, Distal amyotrophy, Hyp... |
OMIM:219150 |
Au-Kline Syndrome |
|
Sacral dimple, Overlapping toe, Thoracolumbar scoliosis, Craniosynostosis, Sagittal craniosynosto... |
OMIM:616580 |
Osteogenesis Imperfecta, Type Xviii |
|
Joint laxity, Bowing of the long bones, Recurrent fractures, Joint hypermobility, Vertebral compr... |
OMIM:617952 |
Larsen-Like Syndrome, Lethal Type |
|
Tracheomalacia, Pulmonary hypoplasia, Abnormal cartilage matrix, Respiratory insufficiency |
OMIM:245650 |
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Polyuria, Renal salt wasting, Enuresis, Hypocalciuria, Renal sodium wasting, Renal potassium wasting |
OMIM:612780 |
Huntington Disease-Like 1 |
|
Abnormal shoulder morphology, Abnormal posturing |
ORPHA:157941 |
Geleophysic Dysplasia 3 |
|
Epiphyseal dysplasia, Pneumonia, Polyhydramnios, Limited elbow movement, Limited wrist movement, ... |
OMIM:617809 |
Duane Retraction Syndrome |
|
Aplasia/Hypoplasia of the thumb, Patchy hypopigmentation of hair, Micrognathia, Absent radius, Pr... |
ORPHA:233 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Rimmed vacuoles, Skeletal muscle autophagosome accumulation, Centrally nucleated skeletal muscle ... |
OMIM:619518 |
Spinocerebellar Ataxia 28 |
|
Lower limb hypertonia, Ragged-red muscle fibers |
OMIM:610246 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Short fourth metatarsal, Polyhydramnios, Cephalohematoma, Patent foramen ovale, Aplasia of the ri... |
OMIM:619841 |
Spastic Paraplegia 8, Autosomal Dominant |
|
Urinary urgency, Urinary bladder sphincter dysfunction, Lower limb muscle weakness, Urinary incon... |
OMIM:603563 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Hip contracture, Bowing of the long bones, Micrognathia, Metaphyseal chondrodysplasia, Knee flexi... |
OMIM:156400 |
Fountain Syndrome |
|
Craniofacial hyperostosis, Brachydactyly, Metaphyseal dysplasia, Pectus excavatum, Kyphosis, Faci... |
ORPHA:3219 |
Spastic Paraplegia 6, Autosomal Dominant |
|
Urinary urgency, Urinary bladder sphincter dysfunction, Lower limb muscle weakness, Urinary incon... |
OMIM:600363 |
Williams-Beuren Syndrome |
|
Bicuspid aortic valve, Down-sloping shoulders, Kyphoscoliosis, Ventricular septal defect, Retinal... |
OMIM:194050 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Kyphosis, Congenital muscular dystrophy, Joint hyperflexibility |
ORPHA:1875 |
Stickler Syndrome |
|
Recurrent respiratory infections, Kyphosis, Spinal canal stenosis, Abnormal form of the vertebral... |
ORPHA:828 |
Greig Cephalopolysyndactyly Syndrome |
|
Camptodactyly of toe, Joint contracture of the hand, Abnormal muscle fiber morphology |
OMIM:175700 |
Microlissencephaly-Micromelia Syndrome |
|
11 pairs of ribs, Respiratory distress, Palpebral edema, Polyhydramnios, Short neck, Adducted thumb |
ORPHA:50810 |
Tenorio Syndrome |
|
Apnea, Recurrent pneumonia, Enuresis, Keratoconjunctivitis sicca, Macroglossia, Recurrent aphthou... |
OMIM:616260 |
Bohring-Opitz Syndrome |
|
Syndactyly, Sacral dimple, Neonatal respiratory distress, Ventricular septal defect, Thick hair, ... |
OMIM:605039 |
Neuraminidase Deficiency |
|
Hepatomegaly, Skeletal muscle atrophy, Cardiomegaly, Splenomegaly, Cardiomyopathy, Epiphyseal sti... |
OMIM:256550 |
Cockayne Syndrome |
|
Reduced subcutaneous adipose tissue, Skeletal muscle atrophy, Cerebral calcification, Kyphosis, B... |
ORPHA:191 |
Noonan Syndrome 1 |
|
Abnormal bleeding, Pectus excavatum of inferior sternum, Ventricular septal defect, Kyphoscoliosi... |
OMIM:163950 |
Hereditary Elliptocytosis |
|
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma... |
ORPHA:288 |
Pallister-Killian Syndrome |
|
Edema of the dorsum of feet, Congenital hip dislocation, Polyhydramnios, Short neck, Congenital d... |
OMIM:601803 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Respiratory distress |
ORPHA:240103 |
Igg4-Related Retroperitoneal Fibrosis |
|
Normocytic anemia, Rheumatoid factor positive, Anti-thyroid peroxidase antibody positivity, Large... |
ORPHA:49041 |
H Syndrome |
|
Hallux valgus, Psoriasiform dermatitis, Lipodystrophy, Recurrent fractures, Recurrent pharyngitis... |
ORPHA:168569 |
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome |
|
Pectus excavatum, Kyphosis, Cervical ribs |
ORPHA:77300 |
Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Bronchitis, T lymphocytopenia, Colitis, Pustular rash, Bro... |
OMIM:619381 |
Monosomy 9P |
|
Congenital diaphragmatic hernia, Short neck, Proximal placement of thumb, Abnormality of the tars... |
ORPHA:261112 |
Zimmermann-Laband Syndrome 1 |
|
Aortic arch aneurysm, Hyperextensibility of the finger joints, Patent ductus arteriosus, Cardiomy... |
OMIM:135500 |
Atypical Rett Syndrome |
|
Sudden episodic apnea, Episodic tachypnea, Kyphosis, Small hand, Short foot, Scoliosis, Abnormal ... |
ORPHA:3095 |
Combined Oxidative Phosphorylation Defect Type 27 |
|
Ragged-red muscle fibers |
ORPHA:477774 |
3-Methylglutaconic Aciduria, Type Viib |
|
Abnormal bleeding, Respiratory distress, Polyhydramnios, Congestive heart failure, Recurrent pneu... |
OMIM:616271 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Syndactyly, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, Short long bone, Acetabu... |
OMIM:615503 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Pericarditis, Fasciitis, Myositis, Skin rash, Periorbital edema, Abnormal sacroiliac joint morpho... |
ORPHA:32960 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Recurrent pneumonia, Scoliosis, Cardiomegaly |
ORPHA:3137 |
Amoebiasis Due To Free-Living Amoebae |
|
Myocardial necrosis, Unusual skin infection, Sinusitis, Pneumonia, Facial palsy, Pustule, Respira... |
ORPHA:68 |
Myelofibrosis |
|
Splenomegaly, Myeloproliferative disorder |
OMIM:254450 |
Brain-Lung-Thyroid Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Ventricula... |
ORPHA:209905 |
Spastic Paraplegia, Ataxia, And Mental Retardation |
|
Urinary urgency, Urinary bladder sphincter dysfunction, Lower limb muscle weakness, Urinary incon... |
OMIM:607565 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Cardiomegaly, Synophrys, Long eyelashes, Pulmonary arterial hypertension |
OMIM:619064 |
Ctcf-Related Neurodevelopmental Disorder |
|
Osteopenia, Prominent fingertip pads, Sacral dimple, Inguinal hernia, Broad hallux phalanx, Sanda... |
ORPHA:363611 |
Tetanus |
|
Respiratory distress, Tachycardia, Stiff neck, Tachypnea, Hypertension, Bradycardia |
ORPHA:3299 |
Cleft Velum |
|
Recurrent otitis media, Aspiration pneumonia |
ORPHA:99772 |
Agnathia-Otocephaly Complex |
|
Respiratory distress, Polyhydramnios, Secundum atrial septal defect, Situs inversus totalis, Pulm... |
OMIM:202650 |
Autosomal Recessive Polycystic Kidney Disease |
|
Hypoventilation, Renal insufficiency, Recurrent urinary tract infections, Spontaneous pneumothora... |
ORPHA:731 |
King-Denborough Syndrome |
|
Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Muscle fiber atroph... |
OMIM:619542 |
Intellectual Disability-Developmental Delay-Contractures Syndrome |
|
Kyphosis, Limitation of joint mobility, Congenital foot contractures, Distal amyotrophy, Scoliosi... |
ORPHA:3454 |
Prader-Willi Syndrome Due To Translocation |
|
Respiratory distress, Recurrent respiratory infections, Brachydactyly, Overlapping toe, Short nec... |
ORPHA:177907 |
Congenital Laryngeal Web |
|
Respiratory distress, Stridor, Abnormal cardiac septum morphology |
ORPHA:2374 |
Attrv122I Amyloidosis |
|
Cardiomegaly, Spinal canal stenosis, Hypertrophic cardiomyopathy, Aortic valve stenosis, Left ven... |
ORPHA:85451 |
Premature Aging Syndrome, Penttinen Type |
|
Prominent superficial veins, Brachydactyly, Lipoatrophy, Recurrent fractures, Osteoporosis, Thin ... |
OMIM:601812 |
Gaucher Disease, Type Ii |
|
Apnea, Stridor, Cough, Bronchiolitis, Recurrent aspiration pneumonia, Double aortic arch |
OMIM:230900 |
Bartter Syndrome, Type 3 |
|
Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Polyuria, Renal salt wasting,... |
OMIM:607364 |
Spastic Paraplegia 53, Autosomal Recessive |
|
Kyphosis, Pectus carinatum |
OMIM:614898 |
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Enuresis |
OMIM:613670 |
Pseudotrisomy 13 Syndrome |
|
11 pairs of ribs, Omphalocele, Ventricular septal defect, Dextrocardia, Complete atrioventricular... |
OMIM:264480 |
17Q11 Microdeletion Syndrome |
|
Osteopenia, Bowing of the legs, Abnormal internal carotid artery morphology, Abnormal lung morpho... |
ORPHA:97685 |
Hypokalemic Periodic Paralysis |
|
Increased intramyocellular lipid droplets, Abnormal muscle fiber morphology |
ORPHA:681 |
Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Inguinal hernia, Kyphosis, Scoliosis, Clinodactyly of the 5th finger, Umbilical hernia, Arthrogry... |
OMIM:615834 |
Chronic Pneumonitis Of Infancy |
|
Respiratory distress, Intercostal retractions, Reduced forced vital capacity, Tachypnea, Hypoxemi... |
ORPHA:91359 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Torticollis, Multiple joint contractures, Facial palsy, Hyperlordosis, Kyphosis, Scoliosis, Abnor... |
OMIM:128100 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Thin bony cortex, Osteomalacia, Irregular, rachitic-like metaphyses, Subperiosteal bone resorptio... |
ORPHA:289157 |
Phace Syndrome |
|
Cerebral arteriovenous malformation, Abnormal heart morphology, Coarctation of aorta, Aortic root... |
ORPHA:42775 |
Ellis-Van Creveld Syndrome |
|
Delayed eruption of teeth, Natal tooth, Capitate-hamate fusion, Postaxial hand polydactyly, Cone-... |
OMIM:225500 |
1P36 Deletion Syndrome |
|
Clinodactyly of the 5th finger, Patent ductus arteriosus, Dilated cardiomyopathy, Rib fusion, Spi... |
ORPHA:1606 |
Pyknoachondrogenesis |
|
Craniofacial hyperostosis, Short iliac bones, Horizontal ribs, Short thorax, Abnormal iliac wing ... |
ORPHA:3003 |
Mucopolysaccharidosis, Type Ii |
|
Inguinal hernia, Abnormal heart valve morphology, Short neck, Kyphosis, Congestive heart failure,... |
OMIM:309900 |
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:2429 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Sclerotic vertebral body, Dental malocclusion, Abnormal pelvic girdle bone morphology, Metacarpal... |
OMIM:144750 |
Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Congenital muscular torticollis, Short neck, Abnormal rib morphology, Low posterior hairline, Sco... |
OMIM:118100 |
Roussy-Lévy Syndrome |
|
Skeletal muscle atrophy, Intrinsic hand muscle atrophy, Distal amyotrophy, Urinary bladder sphinc... |
ORPHA:3115 |
Familial Osteodysplasia, Anderson Type |
|
Recurrent fractures, Aplastic clavicle, Missing ribs, Kyphosis, Abnormal rib morphology, Abnormal... |
ORPHA:2769 |
Triosephosphate Isomerase Deficiency |
|
Respiratory distress, Skeletal muscle atrophy, Respiratory insufficiency due to muscle weakness, ... |
OMIM:615512 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Sclerotic vertebral body, Cerebral calcification, Kyphosis, Increased skull ossification, Craniof... |
OMIM:618476 |
Rhyns Syndrome |
|
Short long bone, Radial bowing, Short femoral neck, Brachydactyly |
OMIM:602152 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyperchloriduria, Renal insufficiency, Polyuria, Increased urinary potassium, Renal salt wasting,... |
OMIM:613090 |
Mosaic Trisomy 20 |
|
Vertebral fusion, Ventricular septal defect, Down-sloping shoulders, Kyphosis, Dysplastic tricusp... |
ORPHA:1724 |
Isolated Atp Synthase Deficiency |
|
Respiratory distress, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Arrhythmia |
ORPHA:254913 |
Inhalational Anthrax |
|
Respiratory distress, Dyspnea, Internal hemorrhage, Hypotension |
ORPHA:247257 |
Autosomal Dominant Spastic Paraplegia Type 36 |
|
Urinary urgency, Arthritis, Urinary incontinence |
ORPHA:320365 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Micrognathia, Hemivertebrae, Knee... |
OMIM:151050 |
Brachyolmia Type 3 |
|
Barrel-shaped chest, Short neck, Kyphosis, Platyspondyly, Scoliosis |
OMIM:113500 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Card... |
OMIM:620135 |
Spastic Paraplegia 10, Autosomal Dominant |
|
Urinary incontinence, Urinary urgency, Upper limb muscle weakness, Lower limb hypertonia, Urinary... |
OMIM:604187 |
Tetraamelia-Multiple Malformations Syndrome |
|
Abnormally ossified vertebrae, Polyhydramnios, Missing ribs, Abnormal lung lobation, Abnormal rib... |
ORPHA:3301 |
Spondyloarthropathy, Susceptibility To, 1 |
|
Back pain, Anterior uveitis, Aortic regurgitation, Psoriasiform dermatitis, Kyphosis, Oligoarthri... |
OMIM:106300 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Alopecia, Psoriasiform dermatitis, Severe B lymphocytopenia, Decreased response to growth hormone... |
ORPHA:293978 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Cryptorch... |
OMIM:300967 |
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Skeletal muscle atrophy, Achilles tendon contracture, Ragged-red muscle fibers, Left ventricular ... |
OMIM:615418 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Bicuspid aortic valve, Abnormal curvature of the vertebral column, Otitis media, Atrial septal de... |
ORPHA:353281 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Respiratory distress, Sacral dimple, Tricuspid regurgitation, Abnormal dental enamel morphology, ... |
ORPHA:2556 |
Spastic Paraplegia 16, X-Linked |
|
Facial hypotonia, Urinary incontinence, Lower limb amyotrophy, Urinary urgency, Urinary bladder s... |
OMIM:300266 |
Marden-Walker Syndrome |
|
Decreased muscle mass, Inguinal hernia, Arachnodactyly, Dextrocardia, Short neck, Kyphosis, Abnor... |
OMIM:248700 |
Scarf Syndrome |
|
Barrel-shaped chest, Diastasis recti, Short neck, Low anterior hairline, Abnormal form of the ver... |
OMIM:312830 |
Coffin-Lowry Syndrome |
|
Hyperextensibility of the finger joints, Short metacarpal, Bifid sternum, Inguinal hernia, Single... |
OMIM:303600 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Long toe, Hepatomegaly, Neonatal respiratory distress, Tapered toe, Apnea, Microcephaly, Cardiome... |
OMIM:608836 |
Spastic Paraplegia 36, Autosomal Dominant |
|
Urinary urgency, Lower limb muscle weakness, Urinary incontinence |
OMIM:613096 |
Coffin-Siris Syndrome |
|
Sparse scalp hair, Thick eyebrow, Hypospadias, Ventricular septal defect, Cryptorchidism, Patent ... |
ORPHA:1465 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Respiratory distress, Myocardial infarction, Stroke, Transient ischemic attack |
OMIM:274150 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Ventricular septal defect, Anterior pituitary hypoplasia, Supernumerary nipple, Bilateral cryptor... |
ORPHA:466791 |
Acute Monoblastic/Monocytic Leukemia |
|
Acute monocytic leukemia, Leukocytosis, Oliguria, Lymphocytosis, Hypochromic anemia, Anemia, Exer... |
ORPHA:514 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Sinoatrial block, Atrial flutter, Atrial fibrillation, Lipodystrophy, Sudden cardiac death, Cardi... |
ORPHA:300751 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Alopecia, Aplastic anemia, Dyspnea, Thrombocytopenia, Premature graying of hair, Leukopenia, Inte... |
OMIM:127550 |
Charge Syndrome |
|
Omphalocele, Hypoplasia of the ulna, Down-sloping shoulders, Abnormal palmar dermatoglyphics, Mic... |
OMIM:214800 |
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Tricuspid regurgitation, Dextrocardia, Coarctation of aorta, Sprengel anomaly, Atrioventricular c... |
OMIM:618929 |
N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress |
OMIM:237310 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Ventricular septal defect, Pericardial effusion, Bradycardia, Hyper... |
OMIM:618775 |
Cartilage-Hair Hypoplasia |
|
Sparse facial hair, Metaphyseal widening, Coxa vara, Femoral bowing, Narrow chest, Short palm, Sp... |
OMIM:250250 |
Spastic Paraplegia 4, Autosomal Dominant |
|
Urinary urgency, Urinary bladder sphincter dysfunction, Lower limb muscle weakness, Urinary incon... |
OMIM:182601 |
Atelosteogenesis Type I |
|
Short femur, Rhizomelia, Micrognathia, Abnormal ossification involving the femoral head and neck,... |
ORPHA:1190 |
Isotretinoin-Like Syndrome |
|
Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Patent ductus arteriosus, Abnormal ... |
ORPHA:2306 |
Fryns Syndrome |
|
Omphalocele, Ventricular septal defect, Polyhydramnios, Thin ribs, Aplasia of the left hemidiaphr... |
OMIM:229850 |
Autoimmune Polyendocrinopathy Type 4 |
|
Atrophic gastritis, Tubulointerstitial nephritis, Leukopenia, Hashimoto thyroiditis, Alopecia, Au... |
ORPHA:227990 |
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Overriding aorta, Abnormal aortic arch morphology, Arteriovenous malformation, Abnormal hip bone ... |
ORPHA:1110 |
Degcags Syndrome |
|
Synophrys, Bilateral renal hypoplasia, Low anterior hairline, Premature graying of hair, Leukopen... |
OMIM:619488 |
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome |
|
Metaphyseal chondrodysplasia, Tibial bowing, Femoral bowing, Aplasia/Hypoplasia of the mandible, ... |
ORPHA:85165 |
Myasthenic Syndrome, Congenital, 20, Presynaptic |
|
Hypoventilation, Skeletal muscle atrophy, Apnea, Facial palsy, Kyphosis, Stridor, Scoliosis, Arth... |
OMIM:617143 |
Hyperaldosteronism, Familial, Type Iii |
|
Hypercalciuria, Adrenal hyperplasia, Polyuria |
OMIM:613677 |
Hennekam-Beemer Syndrome |
|
Camptodactyly of finger, Pneumonia, Pruritus, Respiratory insufficiency, Mastocytosis |
ORPHA:2135 |
Galloway-Mowat Syndrome 3 |
|
Arachnodactyly, Edema, Hiatus hernia, Pectus excavatum, Hip dislocation, Coarctation of aorta, Hy... |
OMIM:617729 |
Hereditary Motor And Sensory Neuropathy, Type Iic |
|
Hand muscle atrophy, Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Urina... |
OMIM:606071 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Short neck |
ORPHA:2234 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Aspiration pneumonia, Cough |
ORPHA:216866 |
Thyroid Lymphoma |
|
Respiratory distress, Dyspnea, Upper airway obstruction, Stridor, Hashimoto thyroiditis |
ORPHA:97285 |
Toriello-Carey Syndrome |
|
Neonatal respiratory distress, Short neck, Patent ductus arteriosus, Coarctation of aorta, Cardio... |
ORPHA:3338 |
Sjögren-Larsson Syndrome |
|
Abnormal dental enamel morphology, Joint stiffness, Kyphosis, Scoliosis, Inflammatory abnormality... |
ORPHA:816 |
Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, Redundant neck skin, Aplasia/Hypoplasia of the scapu... |
ORPHA:3472 |
7Q31 Microdeletion Syndrome |
|
Recurrent respiratory infections, Skeletal muscle atrophy, Torticollis, Asthma, Patent ductus art... |
ORPHA:251061 |
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities |
|
Muscle fiber atrophy, Flexion contracture |
OMIM:620240 |
Mitochondrial Myopathy And Sideroblastic Anemia |
|
Kyphosis, Scoliosis |
ORPHA:2598 |
Dysbetalipoproteinemia |
|
Accelerated atherosclerosis, Acute pancreatitis, Angina pectoris, Type IV atherosclerotic lesion,... |
ORPHA:412 |
Congenital Disorder Of Deglycosylation 1 |
|
Respiratory distress, Recurrent respiratory infections, Dilation of Virchow-Robin spaces, Facial ... |
OMIM:615273 |
Amelogenesis Imperfecta, Type Ig |
|
Renal insufficiency, Polyuria, Impaired renal concentrating ability, Nephrocalcinosis, Enuresis |
OMIM:204690 |
Foix-Alajouanine Syndrome |
|
Distal lower limb amyotrophy, Neurogenic bladder, Urinary incontinence, Venous malformation, Myel... |
ORPHA:79093 |
Schinzel-Giedion Syndrome |
|
Respiratory distress, Abnormal clavicle morphology, Short neck, Tibial bowing, Broad ribs, Abnorm... |
ORPHA:798 |
O'Donnell-Luria-Rodan Syndrome |
|
Kyphosis |
OMIM:618512 |
Cat-Eye Syndrome |
|
Abnormal rib morphology |
ORPHA:195 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Fatty replacement of skeletal muscle, Cardiomyopathy, Generalized amyotrophy, Increased variabili... |
ORPHA:52430 |
15Q14 Microdeletion Syndrome |
|
Atrial septal defect, Kyphosis, Ventricular septal defect, Scoliosis |
ORPHA:261190 |
Basal Cell Nevus Syndrome 1 |
|
Down-sloping shoulders, Palmar pits, Plantar pits, Irregular ossification of hand bones, Polydact... |
OMIM:109400 |
Lissencephaly Due To Lis1 Mutation |
|
Polyhydramnios, Dilation of Virchow-Robin spaces, Scoliosis, Aspiration pneumonia |
ORPHA:95232 |
Ogden Syndrome |
|
Microretrognathia, Torticollis, Ventricular septal defect, Broad hallux, Pulmonary artery stenosi... |
ORPHA:276432 |
Sepsis In Premature Infants |
|
Hepatomegaly, Abnormal mucociliary clearance, Dyspnea, Nasal flaring, Leukocytosis, Thrombocytope... |
ORPHA:90051 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Pectus excavatum, Kyphosis, Asymmetry of the thorax, Scoliosis, Abnormal mitral valve morphology |
ORPHA:1969 |
Restrictive Dermopathy 2 |
|
Respiratory distress, Overtubulated long bones, Short clavicles |
OMIM:619793 |
Autoimmune Polyendocrinopathy Type 3 |
|
Atrophic gastritis, Autoimmune hypoparathyroidism, Tubulointerstitial nephritis, Leukopenia, Hash... |
ORPHA:227982 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Respiratory distress, Pancreatitis |
ORPHA:289916 |
Ogden Syndrome |
|
Congenital hip dislocation, Bicuspid aortic valve, Redundant skin, Redundant neck skin, Cardiomeg... |
OMIM:300855 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Diabetes melli... |
ORPHA:280365 |
Mcdonough Syndrome |
|
Pectus excavatum, Kyphosis, Scoliosis |
ORPHA:2471 |
Aredyld Syndrome |
|
Mandibular prognathia, Hepatomegaly, Craniofacial hyperostosis, Abnormal dental enamel morphology... |
ORPHA:1133 |
Vici Syndrome |
|
Recurrent respiratory infections, Hypopigmentation of hair, Microcephaly, Albinism, Micrognathia,... |
OMIM:242840 |
Witteveen-Kolk Syndrome |
|
Joint laxity, Inguinal hernia, Toe syndactyly, Overlapping toe, Eczema, Polyhydramnios, Congenita... |
OMIM:613406 |
Hydrolethalus Syndrome 1 |
|
Omphalocele, Micrognathia, Preaxial hand polydactyly, Postaxial hand polydactyly, Duplication of ... |
OMIM:236680 |
Hereditary Hemorrhagic Telangiectasia |
|
Conjunctival telangiectasia, Gastrointestinal hemorrhage, Peripheral arteriovenous fistula, Trans... |
ORPHA:774 |
Hallermann-Streiff Syndrome |
|
Recurrent respiratory infections, Hyperlordosis, Pectus excavatum, Metaphyseal widening, Recurren... |
OMIM:234100 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Inguinal hernia, Ventricular septal defect, Kyphosis, Recurrent pneumonia, 2-3 toe syndactyly, Pe... |
OMIM:616449 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly |
ORPHA:88643 |
Rett Syndrome |
|
Skeletal muscle atrophy, Apnea, Intermittent hyperventilation, Kyphosis, Short foot, Scoliosis, A... |
OMIM:312750 |
Wieacker-Wolff Syndrome, Female-Restricted |
|
Hip contracture, Facial palsy, Polyhydramnios, Short neck, Rocker bottom foot, Kyphosis, Achilles... |
OMIM:301041 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Stenosis of the medullary cavity of the long bones, Thin clavicles, Small hand, Thin ribs, Short ... |
ORPHA:93324 |
Acromelic Frontonasal Dysplasia |
|
Midline central nervous system lipomas, Patellar hypoplasia, Talipes equinovarus, Preaxial foot p... |
ORPHA:1827 |
Relapsing Fever |
|
Neutrophilia, Leukocytosis, Jaundice, Anemia, Leukopenia, Thrombocytopenia |
ORPHA:91547 |
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Ventricular septal defect, Cryptorchidism, Absent pulmonary artery, Patent ductus arteriosus, Coa... |
OMIM:600460 |
Autosomal Dominant Spastic Paraplegia Type 73 |
|
Urinary urgency, Distal lower limb muscle weakness, Urinary incontinence, Distal lower limb amyot... |
ORPHA:444099 |
Acute Radiation Syndrome |
|
Inflammatory abnormality of the skin, Interstitial pneumonitis, Granulocytopenia, Lymphopenia, Th... |
ORPHA:454831 |
Autosomal Recessive Spastic Paraplegia Type 15 |
|
Upper limb muscle weakness, Distal amyotrophy, Functional abnormality of the bladder, Leg muscle ... |
ORPHA:100996 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Aortic regurgitation, Inguinal hernia, Femoral hernia, Conotruncal defect, Coarctation of aorta, ... |
ORPHA:96147 |
Teratoma, Pineal |
|
Polyuria |
OMIM:273120 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Absence of the sacrum, Aortic valve stenosis, Hypoplastic left heart, Atrial septal defect, Mitra... |
OMIM:617660 |
19P13.12 Microdeletion Syndrome |
|
Aortic regurgitation, Finger syndactyly, Toe clinodactyly, Ventricular septal defect, Sandal gap,... |
ORPHA:254346 |
Difference Of Sex Development-Intellectual Disability Syndrome |
|
Short neck, Kyphosis, Short thorax, Reduced bone mineral density, Genu valgum, Spina bifida occulta |
ORPHA:2983 |
Immunodeficiency 55 |
|
Absent natural killer cells, Lymphopenia, Neutropenia, Lymphadenopathy |
OMIM:617827 |
Coffin-Siris Syndrome 4 |
|
Atrial septal defect, Ventricular septal defect, Mitral atresia, Patent ductus arteriosus, Pulmon... |
OMIM:614609 |
Florid Cemento-Osseous Dysplasia |
|
Abnormal trabecular bone morphology, Multiple bony cystic lesions, Mandibular osteomyelitis, Abno... |
ORPHA:83451 |
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:85317 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Exercise-induced rhabdomyolysis, Hepatomegaly, Microcephaly, Cardiomegaly, Tachypnea, Respiratory... |
OMIM:201475 |
Rheumatic Fever |
|
Pericarditis, Abnormal heart valve morphology, Abnormal pleura morphology, Recurrent pharyngitis,... |
ORPHA:3099 |
Oculopharyngodistal Myopathy 1 |
|
Respiratory distress, Paroxysmal atrial fibrillation, Autophagic vacuoles, Facial palsy, Hypercap... |
OMIM:164310 |
Gitelman Syndrome |
|
Prolonged QT interval, Respiratory distress, Cerebral calcification, Hashimoto thyroiditis, Peric... |
ORPHA:358 |
Nasolacrimal Duct Cyst |
|
Intercostal retractions, Chronic irritative conjunctivitis, Periorbital edema, Episodic respirato... |
ORPHA:141083 |
Cole-Carpenter Syndrome |
|
Crumpled long bones, Bowing of the long bones, Abnormal dental enamel morphology, Recurrent fract... |
ORPHA:2050 |
Bickerstaff Brainstem Encephalitis |
|
Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Facial palsy, Respira... |
ORPHA:79138 |
Osteogenesis Imperfecta, Type V |
|
Hyperextensibility of the finger joints, Vertebral wedging, Platyspondyly, Abnormal pelvic girdle... |
OMIM:610967 |
Bohring-Opitz Syndrome |
|
Recurrent respiratory infections, Facial hypotonia, Apnea, Microcephaly, Cardiomegaly, Pectus exc... |
ORPHA:97297 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Skeletal muscle atrophy, Kyphosis, Thin skin, Striae distensae |
OMIM:219080 |
Alagille Syndrome 1 |
|
Hypoplasia of the ulna, Short distal phalanx of finger |
OMIM:118450 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal salt wasting, I... |
OMIM:602522 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Sacral dimple, Sandal gap, Postaxial polydactyly, Hyperlordosis, Kyphosis, Scoliosis, Broad dista... |
OMIM:615761 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Brachydactyly, Kyphosis, Hip dysplasia, Scoliosis, Hypoplastic iliac wing, Short distal phalanx o... |
ORPHA:1858 |
Congenital Disorder Of Glycosylation, Type Il |
|
Pericardial effusion, Kyphosis, Abnormal cardiac septum morphology, Short neck |
OMIM:608776 |
Spastic Paraplegia 11, Autosomal Recessive |
|
Skeletal muscle atrophy, Urinary incontinence, Thenar muscle atrophy, Urinary urgency, Urinary bl... |
OMIM:604360 |
Muscular Dystrophy, Congenital, With Or Without Seizures |
|
Respiratory distress, Hypoglycosylation of alpha-dystroglycan, Respiratory failure |
OMIM:620166 |
Jacobsen Syndrome |
|
Recurrent respiratory infections, Inguinal hernia, Broad hallux phalanx, Ventricular septal defec... |
ORPHA:2308 |
Interstitial Cystitis |
|
Abnormal labia morphology, Abnormality of the urethra, Urinary bladder inflammation, Functional a... |
ORPHA:37202 |
Spastic Paraplegia 30, Autosomal Dominant |
|
Lower limb amyotrophy, Urinary bladder sphincter dysfunction, Lower limb muscle weakness |
OMIM:610357 |
Helix Syndrome |
|
Renal insufficiency, Hyperparathyroidism, Polyuria, Nephrolithiasis, Hypocalciuria |
OMIM:617671 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Respiratory distress, Gastrointestinal inflammation, Conjunctivitis, Neutropenia, Cough, Abnormal... |
ORPHA:95455 |
Kleefstra Syndrome 2 |
|
Kyphosis, Scoliosis |
OMIM:617768 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Fatty replacement of skeletal muscle, Myopathy, Increased variability in muscle fiber diameter, E... |
ORPHA:397744 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Dilated cardiomyopathy, Respiratory arrest, Cardiomegaly |
OMIM:600649 |
Primary Intestinal Lymphangiectasia |
|
Edema, Pericardial effusion, Abnormal lymphatic vessel morphology, Intestinal lymphangiectasia, P... |
ORPHA:90362 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Short neck, Kyphosis, Patent ductus arteriosus, Hemivertebrae, Sprengel anomaly, Scoliosis, Pulmo... |
OMIM:618223 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Ventricular septal defect, Secundum atrial septal defect, Tetralogy of Fallot, Subvalvular aortic... |
OMIM:108900 |
Liver Disease, Severe Congenital |
|
Chronic gastritis, Dry hair, Cardiomegaly, Biliary hyperplasia, Leukopenia, Aminoaciduria, Lympho... |
OMIM:619991 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Bulging epiphyses, Osteomalacia, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ossi... |
OMIM:300554 |
Lethal Congenital Contracture Syndrome 9 |
|
Elbow extension contracture, Centrally nucleated skeletal muscle fibers, Flexion contracture, Myo... |
OMIM:616503 |
Pfeiffer Syndrome Type 2 |
|
Respiratory distress, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hall... |
ORPHA:93259 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Atrial situs ambiguous, Abnormal tricuspid valve morphology, Abnormal left ventricular outflow tr... |
ORPHA:216694 |
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome |
|
Finger syndactyly, Toe syndactyly, Elbow dislocation, Aplasia/Hypoplasia of the phalanges of the ... |
ORPHA:1112 |
Holocarboxylase Synthetase Deficiency |
|
Respiratory distress, Eczema, Tachypnea, Keratoconjunctivitis, Perioral eczema |
ORPHA:79242 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Angina pectoris, Epistaxis, Portal hypertension, Pulmonary embolism,... |
ORPHA:729 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Short lower limbs, Lower limb asymmetry, Avascular necrosis of the capital femoral epiphysis, Upp... |
ORPHA:93315 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Barrel-shaped chest, Osteopenia, Increased bone mineral density, Short humerus, Bowing of the lon... |
OMIM:239000 |
Catastrophic Antiphospholipid Syndrome |
|
Abnormal heart valve morphology, Angina pectoris, Myocardial infarction, Pulmonary embolism, Tran... |
ORPHA:464343 |
Femoral-Facial Syndrome |
|
Short fourth metatarsal, Limited elbow movement, Hemivertebrae, Dysplastic sacrum, Absent vertebr... |
OMIM:134780 |
Genetic Recurrent Myoglobinuria |
|
Dark urine, Proximal muscle weakness in upper limbs, Myositis, Renal insufficiency, Recurrent myo... |
ORPHA:99845 |
Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hypercalciuria, Medullary nephrocalcinosis, Polyuria |
OMIM:300971 |
Orofaciodigital Syndrome Vi |
|
11 pairs of ribs, Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxi... |
OMIM:277170 |
Hemochromatosis, Type 1 |
|
Hepatomegaly, Alopecia, Cardiomegaly, Splenomegaly, Cardiomyopathy, Pleural effusion |
OMIM:235200 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Bicuspid aortic valve, Polyhydramnios, Abnormal curvature of the vertebral column, Otitis media, ... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Bicuspid aortic valve, Polyhydramnios, Abnormal curvature of the vertebral column, Otitis media, ... |
ORPHA:353277 |
Vocal Cord And Pharyngeal Distal Myopathy |
|
Abnormal morphology of musculature of pharynx, Abnormality of the calf musculature, Inflammatory ... |
ORPHA:600 |
Kabuki Syndrome 2 |
|
Joint laxity, Prominent fingertip pads, Hip dislocation, Coarctation of aorta, Recurrent otitis m... |
OMIM:300867 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
Immunodeficiency 31C |
|
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Lym... |
OMIM:614162 |
Sclerosteosis 1 |
|
Mandibular prognathia, Syndactyly, Facial palsy, Sclerotic scapulae, Broad clavicles, Malar flatt... |
OMIM:269500 |
Spastic Paraplegia 37, Autosomal Dominant |
|
Urinary urgency, Urinary incontinence |
OMIM:611945 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Anemia, Lymphopenia, Thrombocytopenia |
OMIM:617591 |
Fibromuscular Dysplasia, Multifocal |
|
Soft, doughy skin, Striae distensae, Micrognathia, Pectus excavatum, Hyperextensible skin, Scolio... |
OMIM:619329 |
Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Atrial septal defect, Aortic root aneurysm, Flexion contracture, Generalized limb muscle atrophy |
OMIM:618891 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... |
OMIM:620066 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Ragged-red muscle fibers |
OMIM:613662 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Osteopenia, Respiratory distress, Congenital hip dislocation, Atrial septal defect, Joint laxity,... |
ORPHA:480880 |
Autosomal Recessive Spastic Paraplegia Type 48 |
|
Urinary bladder sphincter dysfunction, Lower limb muscle weakness, Urinary incontinence |
ORPHA:306511 |
Hypomelanosis Of Ito |
|
Syndactyly, Kyphosis, Hand polydactyly, Radial deviation of finger, Scoliosis, Clinodactyly |
OMIM:300337 |
Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas... |
ORPHA:3144 |
2P15P16.1 Microdeletion Syndrome |
|
Aortic regurgitation, Recurrent respiratory infections, Inguinal hernia, Sandal gap, Facial palsy... |
ORPHA:261349 |
Osteogenesis Imperfecta, Type Xv |
|
Platyspondyly, Scoliosis, Thin ribs |
OMIM:615220 |
Verloove Vanhorick-Brubakk Syndrome |
|
Finger syndactyly, Tarsal synostosis, Micrognathia, Abnormal femur morphology, Abnormal form of t... |
ORPHA:3429 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent pneumonia, Neutropenia, Bronchiectasis, Decreased cir... |
OMIM:601495 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Nonimmune hydrops fetalis, Craniosynostosis, Thin ribs, Slender long bone, Decreased calvarial os... |
OMIM:618265 |
Hypoglossia With Situs Inversus |
|
Situs inversus totalis, Upper airway obstruction, Respiratory distress |
OMIM:612776 |
Congenital-Onset Steinert Myotonic Dystrophy |
|
Neonatal respiratory distress, Facial hypotonia, Patent ductus arteriosus, Enuresis, Abnormal car... |
ORPHA:589821 |
Hennekam Syndrome |
|
Recurrent respiratory infections, Finger syndactyly, Camptodactyly of finger, Craniosynostosis, L... |
ORPHA:2136 |
Infantile Neuroaxonal Dystrophy |
|
Apneic episodes in infancy, Flexion contracture, Aspiration pneumonia |
ORPHA:35069 |
Tarp Syndrome |
|
Finger syndactyly, Rocker bottom foot, Postaxial polydactyly, Single transverse palmar crease, Mi... |
ORPHA:2886 |
Kaufman Oculocerebrofacial Syndrome |
|
Neonatal respiratory distress, Congenital hip dislocation, Ventricular septal defect, Ovoid verte... |
OMIM:244450 |
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
|
Mitral valve prolapse |
ORPHA:369950 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Gastroin... |
OMIM:600376 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Sacral dimple, Dilation of Virchow-Robin spaces, Inguinal hernia, Tapered toe, Polyhydramnios, Ta... |
ORPHA:544488 |
Pparg-Related Familial Partial Lipodystrophy |
|
Calf muscle pseudohypertrophy, Abnormality of skeletal muscle fiber size, Prominent veins on trun... |
ORPHA:79083 |
Attrv30M Amyloidosis |
|
Cardiomyopathy, Cardiomegaly |
ORPHA:85447 |
Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Abnormal T cell morphology, Decreased p... |
ORPHA:760 |
Mohr-Tranebjaerg Syndrome |
|
Agammaglobulinemia, Aspiration pneumonia |
ORPHA:52368 |
Schaaf-Yang Syndrome |
|
Rocker bottom foot, Tapered finger, Kyphosis, Flexion contracture, Small hand, Short foot, Scolio... |
OMIM:615547 |
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive |
|
Mitral stenosis, Scoliosis, Subvalvular aortic stenosis |
OMIM:619461 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Hepatomegaly, Dicarboxylic aciduria, Sudden episodic apnea, Rhabdomyolysis, Oliguria, Respiratory... |
ORPHA:159 |
Refsum Disease, Classic |
|
Short fourth metatarsal, Cardiomyopathy, Limb muscle weakness, Cardiomegaly |
OMIM:266500 |
Gaucher Disease Type 3 |
|
Recurrent respiratory infections, Increased bone mineral density, Mitral valve calcification, Abn... |
ORPHA:77261 |
Diamond-Blackfan Anemia 1 |
|
11 pairs of ribs, Ventricular septal defect, Tricuspid stenosis, Short neck, Absent thumb, Conges... |
OMIM:105650 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Lymphopenia |
ORPHA:1116 |
Cutis Laxa, Autosomal Recessive, Type Iia |
|
Congenital hip dislocation, Brittle hair, Redundant skin, Abnormality of hair texture, Microcepha... |
OMIM:219200 |
Cranioectodermal Dysplasia 2 |
|
Cholangitis, Polyhydramnios, Short neck, Hydrops fetalis, Narrow chest, Atrial septal defect, Pat... |
OMIM:613610 |
Familial Atrial Myxoma |
|
Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Bacterial endocarditis, Exertional dyspnea |
ORPHA:615 |
Solitary Fibrous Tumor |
|
Vaginal neoplasm, Neoplasm of the lung, Neoplasia of the pleura, Urinary retention, Prostate canc... |
ORPHA:2126 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Respiratory distress, Tachycardia, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Ap... |
ORPHA:348 |
Campomelia, Cumming Type |
|
Abnormally ossified vertebrae, Brachydactyly, Bowing of the long bones, Lymphedema, Abnormal thor... |
ORPHA:1318 |
Osteoporosis-Pseudoglioma Syndrome |
|
Barrel-shaped chest, Osteopenia, Ventricular septal defect, Recurrent fractures, Kyphoscoliosis, ... |
OMIM:259770 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Pulmonary arterial hypertension, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:619051 |
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Skeletal muscle atrophy, Stenosis of the medullary cavity of the long bones, Diaphyseal cortical ... |
OMIM:112250 |
Kenny-Caffey Syndrome, Type 1 |
|
Long clavicles, Thin clavicles, Small hand, Thin ribs, Short foot, Slender long bone, Short palm,... |
OMIM:244460 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Bowing of the long bones, Micromelia, Micrognathia, Short long bone, Talipes equinovarus |
OMIM:224410 |
Urofacial Syndrome 2 |
|
Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti... |
OMIM:615112 |
Primary Dystonia, Dyt4 Type |
|
Respiratory distress, Torticollis, Kyphoscoliosis |
ORPHA:98805 |
Caudal Regression Syndrome |
|
Decreased muscle mass, Missing ribs, Abnormal iliac wing morphology, Aplasia/Hypoplasia of the sa... |
ORPHA:3027 |
Cystic Fibrosis |
|
Hepatomegaly, Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recu... |
OMIM:219700 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyperparathyroidism, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Periodontitis, Chronic ... |
ORPHA:534 |
Peters-Plus Syndrome |
|
Single transverse palmar crease, Proximal placement of thumb, Limited elbow movement, Micrognathi... |
OMIM:261540 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Sparse eyelashes, Postaxial polydactyly, Tracheal stenosis, Sparse eyebrow, Short neck, Abnormal ... |
OMIM:302960 |
C Syndrome |
|
Omphalocele, Sacral dimple, Toe syndactyly, Congenital diaphragmatic hernia, Polyhydramnios, Pect... |
ORPHA:1308 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Apnea, Bicuspid aortic valve, Aspiration pneumonia, Atrial septal defect, Vesicoureteral reflux, ... |
ORPHA:438213 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Pes planus, Thick eyebrow, Congenital hip dislocation, Tapered finger, Micrognathia, Hypoplasia o... |
OMIM:616007 |
Gapo Syndrome |
|
Mandibular prognathia, Abnormal clavicle morphology, Alopecia, Delayed eruption of teeth, Sparse ... |
ORPHA:2067 |
Camurati-Engelmann Disease |
|
Skeletal muscle atrophy, Abnormal tibia morphology, Craniofacial osteosclerosis, Abnormal femur m... |
ORPHA:1328 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Respiratory distress, Pulmonary embolism, Dilated cardiomyopathy, Subdural hemorrhage, Hydrops fe... |
ORPHA:79282 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Osteopenia, Pericarditis, Nonimmune hydrops fetalis, Edema, Pericardial effusion, Kyphosis, Abnor... |
OMIM:212065 |
Trichothiodystrophy 8, Nonphotosensitive |
|
Sparse eyebrow, Head titubation, Cutis laxa, Sparse hair, Woolly hair, Retrognathia, Trichorrhexi... |
OMIM:619691 |
Prader-Willi Syndrome |
|
Osteopenia, Hypoventilation, Recurrent respiratory infections, Decreased muscle mass, Syndactyly,... |
OMIM:176270 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Vertebral fusion, Block vertebrae, Short neck, Missing ribs, Hemivertebrae, Rib fusion, Thin ribs... |
OMIM:271520 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Respiratory failure, Incr... |
OMIM:220110 |
Craniometadiaphyseal Dysplasia |
|
Osteopenia, Broad long bones, Coxa valga, Flared metaphysis, Genu valgum, Sclerosis of skull base... |
OMIM:269300 |
Cranioectodermal Dysplasia 3 |
|
Sandal gap, Short nail, Postaxial polydactyly, Micrognathia, 2-4 toe syndactyly, 2-3 toe syndacty... |
OMIM:614099 |
Doors Syndrome |
|
11 pairs of ribs, Respiratory distress, Aplasia/Hypoplasia of the phalanges of the 2nd toe, Sagit... |
ORPHA:79500 |
Myhre Syndrome |
|
Craniofacial hyperostosis, Inguinal hernia, Brachydactyly, Femoral hernia, Joint stiffness, Abnor... |
ORPHA:2588 |
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome |
|
Polyhydramnios, Respiratory insufficiency, Thin ribs |
ORPHA:456328 |
Atelis Syndrome 2 |
|
Sacral dimple, Kyphosis, Patent ductus arteriosus, Dyspnea, Supravalvar pulmonary stenosis, Vitre... |
OMIM:620185 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Abnormality of skeletal muscle fiber size, Skeletal muscle hypertrophy, Myopathy, Coronary artery... |
ORPHA:2348 |
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Short metacarpal, Short metatarsal, Sparse hair, Cubitus valgus, Frontal hirsutism, Short distal ... |
OMIM:617157 |
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development |
|
Kyphosis, Split hand, Foot dorsiflexor weakness, Scoliosis |
OMIM:618124 |
Cornelia De Lange Syndrome |
|
Toe syndactyly, Ventricular septal defect, Abnormal morphology of ulna, Congenital diaphragmatic ... |
ORPHA:199 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Abnormal trabecular bone morphology, Increased bone mineral density, Osteomalacia, Craniosynostos... |
ORPHA:289176 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Osteopenia, Kyphosis, Osteoporosis, Hypertension, Bruising susceptibility, Pancreatitis |
OMIM:610475 |
Spastic Paraplegia 7, Autosomal Recessive |
|
Urinary incontinence, Urinary urgency, Upper limb muscle weakness, Lower limb hypertonia, Upper l... |
OMIM:607259 |
Glycogen Storage Disease Xv |
|
Scapular winging, Type 1 muscle fiber predominance |
OMIM:613507 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2 |
|
Skeletal muscle atrophy, Ragged-red muscle fibers, Lower limb muscle weakness |
OMIM:616479 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Kyphosis, Scoliosis |
ORPHA:99014 |
Malakoplakia |
|
Inflammatory abnormality of the skin, Skin rash, Dysuria, Proteinuria, Orchitis, Urinary bladder ... |
ORPHA:556 |
Pfeiffer Syndrome Type 3 |
|
Respiratory distress, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hall... |
ORPHA:93260 |
Duplication Of Urethra |
|
Bifid scrotum, Urethral stricture, Anuria, Urinary incontinence, Rectourethral fistula, Epispadia... |
ORPHA:237 |
Distal Deletion 10Q |
|
Atrial septal defect, Scapular winging, Widow's peak, Functional abnormality of the bladder, Pate... |
ORPHA:96148 |
Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Kyphosis, Scoliosis |
OMIM:610743 |
Robinow Syndrome |
|
Fused thoracic vertebrae, Syndactyly, Brachydactyly, Ventricular septal defect, Kyphoscoliosis, M... |
ORPHA:97360 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Respiratory distress, Inguinal hernia, Long clavicles, Superficial dermal perivascular inflammato... |
ORPHA:83617 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Sprengel anomaly, Abnormality of the vertebral column, Abnormal rib morphology |
OMIM:601076 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Leukocytosis, Increased proportion of CD4-positive T cells, Lymphadenopathy |
OMIM:617099 |
Chand Syndrome |
|
Atelectasis, Hydroureter, Curly hair, Imperforate hymen |
ORPHA:1401 |
Colchicine Poisoning |
|
Respiratory distress, Renal insufficiency, Alopecia, Myocarditis, Leukocytosis, Oliguria, Cardior... |
ORPHA:31824 |
Japanese Encephalitis |
|
Respiratory distress, Irregular respiration, Skeletal muscle atrophy, Stiff neck, Facial palsy, E... |
ORPHA:79139 |
Spastic Paraplegia 89, Autosomal Recessive |
|
Functional abnormality of the bladder |
OMIM:620379 |
Psoriasis 14, Pustular |
|
Leukocytosis, Neutrophilia, Cholangitis |
OMIM:614204 |
Amyloidosis, Finnish Type |
|
Cardiomyopathy, Cardiac amyloidosis, Cutis laxa |
OMIM:105120 |
Hereditary Angioedema Type 1 |
|
Respiratory distress, Tongue edema, Intestinal edema, Pharyngeal edema, Edema of the dorsum of ha... |
ORPHA:100050 |
Acute Generalized Exanthematous Pustulosis |
|
Neutrophilia, Eosinophilia, Leukocytosis, Cholestasis, Lymphadenopathy, Neutropenia |
ORPHA:293173 |
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Patent ductus arteriosus, Mitral stenosis, Respiratory insufficiency, Coarctation of aorta |
OMIM:617260 |
Developmental And Epileptic Encephalopathy 68 |
|
Respiratory distress, Flexion contracture |
OMIM:618201 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Respiratory distress, Hypertension, Umbilical hernia, Craniosynostosis |
ORPHA:1555 |
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Hip contracture, Hypoventilation, Kyphosis, Recurrent pneumonia, Elbow flexion contracture, Genu ... |
OMIM:618493 |
Kindler Epidermolysis Bullosa |
|
Finger syndactyly, Camptodactyly of finger, Abnormal dental enamel morphology, Flexion contractur... |
ORPHA:2908 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Hepatomegaly, Renal insufficiency, Primary testicular failure, Proteinuria, Renal interstitial am... |
ORPHA:85450 |
Ear-Patella-Short Stature Syndrome |
|
Respiratory distress, Camptodactyly of finger, Craniosynostosis, Aplastic clavicle, Dyspnea, Pate... |
ORPHA:2554 |
Antley-Bixler Syndrome |
|
Arachnodactyly, Camptodactyly of finger, Craniosynostosis, Recurrent fractures, Joint stiffness, ... |
ORPHA:83 |
Auriculocondylar Syndrome |
|
Respiratory distress, Vein of Galen aneurysmal malformation |
ORPHA:137888 |
Bartter Syndrome, Type 1, Antenatal |
|
Hyperchloriduria, Hyperparathyroidism, Polyuria, Renal salt wasting, Increased urinary potassium,... |
OMIM:601678 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Kyphosis, Scoliosis |
OMIM:300861 |
Osteopetrosis, Autosomal Recessive 7 |
|
Abnormal trabecular bone morphology, Multiple rib fractures, Femur fracture, Recurrent pneumonia,... |
OMIM:612301 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Hepatomegaly, Intermittent thrombocytopenia, Perianal abscess, Erythroid hypoplasia, Thrombocytop... |
OMIM:612541 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Atrial septal defect, Macrocephaly, Microcephaly, Right atrial enlargement |
OMIM:615219 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Reduced subcutaneous adipose tissue, Diabetes mellitus, Lipodystrophy, Reduced intraabdominal adi... |
OMIM:608594 |
Ramos-Arroyo Syndrome |
|
Respiratory distress, Keratitis, Patent ductus arteriosus, Xerostomia, Atrial septal defect |
ORPHA:1051 |
Mosaic Trisomy 8 |
|
Camptodactyly of finger, Short neck, Micrognathia, Patellar aplasia, Abnormal rib morphology, Nar... |
ORPHA:96061 |
Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Skin vesicle, Palmoplantar erythema, Striae distensae, Facial erythema |
ORPHA:64745 |
Sporadic Infantile Bilateral Striatal Necrosis |
|
Recurrent upper respiratory tract infections, Titubation, Hypomimic face, Abnormal posturing, Rec... |
ORPHA:225147 |
Oculocerebrofacial Syndrome, Kaufman Type |
|
Respiratory distress, Dyspnea, Respiratory failure, Arachnodactyly |
ORPHA:2707 |
Kasabach-Merritt Syndrome |
|
Respiratory distress, Abnormal lymphatic vessel morphology, Hypopnea, Prolonged prothrombin time,... |
ORPHA:2330 |
Proteus Syndrome |
|
Decreased muscle mass, Lymphedema, Pulmonary embolism, Abnormal lung lobation, Abnormal finger mo... |
ORPHA:744 |
Snakebite Envenomation |
|
Intracranial hemorrhage, Muscle fiber necrosis, Rhabdomyolysis, Stroke |
ORPHA:449285 |
Tetraamelia Syndrome 1 |
|
Peripheral pulmonary vessel aplasia, Pulmonary hypoplasia, Congenital diaphragmatic hernia |
OMIM:273395 |
Sponastrime Dysplasia |
|
Delayed epiphyseal ossification, Osteopathia striata, Metaphyseal widening, Coxa vara, Ivory epip... |
ORPHA:93357 |
Autosomal Dominant Spastic Paraplegia Type 3 |
|
Urinary urgency, Lower limb hypertonia, Distal lower limb muscle weakness, Distal lower limb amyo... |
ORPHA:100984 |
Icf Syndrome |
|
Anemia, Lymphopenia, Abnormality of neutrophils |
ORPHA:2268 |
Plaa-Associated Neurodevelopmental Disorder |
|
Hyperextensibility of the finger joints, Edema of the dorsum of feet, Apnea, Rocker bottom foot, ... |
ORPHA:521426 |
Stt3B-Cdg |
|
Respiratory distress |
ORPHA:370924 |
Lateral Meningocele Syndrome |
|
Craniofacial hyperostosis, Inguinal hernia, Ventricular septal defect, Hyperlordosis, Pectus exca... |
ORPHA:2789 |
Vacterl With Hydrocephalus |
|
Absence of the sacrum, Inguinal hernia, Femoral hernia, Micrognathia, Hypoplasia of the radius, H... |
ORPHA:3412 |
Iniencephaly |
|
Omphalocele, Arthrogryposis multiplex congenita, Congenital diaphragmatic hernia, Polyhydramnios |
ORPHA:63259 |
Congenital Disorder Of Glycosylation, Type Ix |
|
Respiratory distress |
OMIM:615597 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Pericardial effusion, Restrictive cardiomyopathy, Right atrial enlargement, Endocardial fibroelas... |
OMIM:619313 |
Lassa Fever |
|
Dyspnea, Oliguria, Increased circulating IgM level, Conjunctivitis, Cough |
ORPHA:99824 |
Autosomal Recessive Spastic Ataxia With Leukoencephalopathy |
|
Urinary urgency |
ORPHA:314603 |
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Sparse scalp hair, Abnormality of the kidney, Sparse eyebrow, Tubulointerstitial nephritis, Enure... |
ORPHA:459061 |
Dent Disease 1 |
|
Bulging epiphyses, Osteomalacia, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ossi... |
OMIM:300009 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hyperlordosis, Kyphosis, Short toe, Keloids, Brachydactyly |
ORPHA:3085 |
Clark-Baraitser syndrome |
|
Joint laxity, Tapered finger, Kyphosis, Genu valgum, Scoliosis, Short palm |
OMIM:300602 |
Hemifacial Atrophy, Progressive |
|
Kyphosis |
OMIM:141300 |
Neuroleptic Malignant Syndrome |
|
Proteinuria, Urinary incontinence, Pulmonary embolism, Leukocytosis, Rhabdomyolysis, Aspiration p... |
ORPHA:94093 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Hypoventilation, Apnea, Kyphosis, Sinus bradycardia, Hypopnea, Restrictive ventilatory defect, Sc... |
OMIM:619482 |
Floating-Harbor Syndrome |
|
11 pairs of ribs, Short metacarpal, Brachydactyly, Avascular necrosis of the capital femoral epip... |
ORPHA:2044 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Respiratory distress, Increased variability in muscle fiber diameter, Stridor |
OMIM:615595 |
Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Microcephaly, Cardiomegaly |
ORPHA:391428 |
Progeroid Syndrome, Petty Type |
|
Mandibular prognathia, Brittle hair, Redundant skin, Abnormal hair morphology, Cutis laxa, Long e... |
ORPHA:2963 |
Trisomy 20P |
|
Finger syndactyly, Inguinal hernia, Camptodactyly of finger, Short neck, Kyphosis, Preaxial hand ... |
ORPHA:261318 |
Tay-Sachs Disease |
|
Skeletal muscle atrophy, Hip flexor weakness, Quadriceps muscle atrophy, Limited elbow extension,... |
ORPHA:845 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Bicuspid aortic valve, Abnormal lung lobation, Atrial septal defect, Clinodactyly of the 5th fing... |
OMIM:607872 |
Microphthalmia, Syndromic 3 |
|
Vertebral fusion, Ventricular septal defect, Missing ribs, Patent ductus arteriosus, Hemivertebra... |
OMIM:206900 |
Maternal Phenylketonuria |
|
Ventricular septal defect, Bifid distal phalanx of the thumb, Clinodactyly, Abnormal heart morpho... |
ORPHA:2209 |
Cranioectodermal Dysplasia 1 |
|
Broad toe, Brachydactyly, Short humerus, Rhizomelia, Single transverse palmar crease, Broad dista... |
OMIM:218330 |
Kagami-Ogata Syndrome |
|
Omphalocele, Respiratory failure requiring assisted ventilation, Inguinal hernia, Diastasis recti... |
ORPHA:254519 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Endometrial carcinoma, Adrenal hyperplasia, Pneumonia, Male pseudohermaphroditism, Macroorchidism... |
ORPHA:90790 |
Fowler Urethral Sphincter Dysfunction Syndrome |
|
Acne, Dysuria, Urinary incontinence, Abnormality of the urethra, Polycystic ovaries, Urinary rete... |
ORPHA:2795 |
Lopes-Maciel-Rodan Syndrome |
|
Short foot, Kyphosis, Small hand, Scoliosis |
OMIM:617435 |
Adenine Phosphoribosyltransferase Deficiency |
|
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Urolithiasis, Nephrolithiasis, Oliguria, ... |
OMIM:614723 |
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome |
|
Urinary urgency |
OMIM:618878 |
Miller-Dieker Lissencephaly Syndrome |
|
Cryptorchidism, Abnormal heart morphology, Pelvic kidney, Camptodactyly, Joint contracture of the... |
OMIM:247200 |
X-Linked Dystonia-Parkinsonism |
|
Aspiration pneumonia |
ORPHA:53351 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Triceps weakness, Intrinsic hand muscle atrophy, Foot dorsiflexor weakness, Centrally nucleated s... |
OMIM:619574 |
Fucosidosis |
|
Hepatomegaly, Decreased muscle mass, Cardiomegaly, Kyphosis, Anterior beaking of lumbar vertebrae |
ORPHA:349 |
Yunis-Varon Syndrome |
|
Congenital hip dislocation, Anterior concavity of thoracic vertebrae, Polyhydramnios, Short metat... |
OMIM:216340 |
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome |
|
Pulmonary artery stenosis, Abnormal cardiac septum morphology, Mitral atresia |
ORPHA:140952 |
Osteopetrosis, Autosomal Dominant 2 |
|
Facial palsy, Mandibular osteomyelitis, Fractures of the long bones, Abnormality of the vertebral... |
OMIM:166600 |
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta |
|
Coarctation of abdominal aorta, Cardiomyopathy, Endocardial fibroelastosis |
OMIM:226100 |
Autosomal Dominant Spastic Paraplegia Type 8 |
|
Urinary urgency, Lower limb muscle weakness, Urinary incontinence, Peroneal muscle atrophy |
ORPHA:100989 |
Spastic Paraplegia 46, Autosomal Recessive |
|
Kyphosis, Limb muscle weakness, Lower limb muscle weakness, Scoliosis |
OMIM:614409 |
Gabriele-De Vries Syndrome |
|
Hallux valgus, Facial hypotonia, Aortopulmonary collateral arteries, Sandal gap, Long fingers, Di... |
OMIM:617557 |
Alexander Disease |
|
Osteopenia, Cerebral calcification, Facial palsy, Sudden cardiac death, Hyperlordosis, Short neck... |
ORPHA:58 |
Leptospirosis |
|
Respiratory distress, Pericarditis, Skin rash, First degree atrioventricular block, Cough, Rhabdo... |
ORPHA:509 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Kyphosis, Abnormality of the musculature of the lower limbs, Hip dislocation, Scoliosis |
ORPHA:464282 |
Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Flexion contracture, Elbow flexion contracture, Hip dislocation, Fine hair, Cutis laxa, Excessive... |
OMIM:614438 |
Neuromuscular Oculoauditory Syndrome |
|
Respiratory distress, Knee flexion contracture, Calf muscle hypertrophy, Muscle fiber necrosis, A... |
OMIM:618733 |
Carpenter Syndrome 2 |
|
Short neck, Low anterior hairline, Preaxial polydactyly, Coxa vara, Knee flexion contracture, Pec... |
OMIM:614976 |
Bartter Syndrome, Type 2, Antenatal |
|
Hyperchloriduria, Polyuria, Renal salt wasting, Increased urinary potassium, Hypercalciuria, Hype... |
OMIM:241200 |
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration |
|
Urinary urgency, Urinary incontinence |
OMIM:612319 |
Hardikar Syndrome |
|
Ventricular septal defect, Thoracolumbar scoliosis, Portal hypertension, Cholangitis, Hematemesis... |
OMIM:301068 |
Onychotrichodysplasia And Neutropenia |
|
Lymphocytosis, Chronic neutropenia, Neutropenia |
OMIM:258360 |
Cardiogenic Shock |
|
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... |
ORPHA:97292 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Leukocyt... |
OMIM:243150 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic kidney disease, Anemia, Hematuria... |
OMIM:612925 |
Beckwith-Wiedemann Syndrome |
|
Omphalocele, Inguinal hernia, Diastasis recti, Congenital diaphragmatic hernia, Polyhydramnios, C... |
ORPHA:116 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Hepatosp... |
ORPHA:35078 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Reduced subcutaneous adipose tissue, Lipodystrophy, Reduced intraabdominal adipose tissue, Decrea... |
OMIM:269700 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Hallux valgus, Micrognathia, Short metatarsal, Low posterior hairline, Webbed neck, Cubitus valgu... |
ORPHA:1772 |
Adnp Syndrome |
|
Respiratory distress, Joint laxity, Inguinal hernia, Broad hallux, Sandal gap, Abnormal toe morph... |
ORPHA:404448 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... |
OMIM:174000 |
Keppen-Lubinsky Syndrome |
|
Lack of facial subcutaneous fat, Decreased serum leptin, Flexion contracture, Absence of subcutan... |
OMIM:614098 |
Parkinson Disease 6, Autosomal Recessive Early-Onset |
|
Urinary urgency |
OMIM:605909 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Aortic regurgitation, Hallux valgus, Multiple joint contractures, Ventricular septal defect, Ecze... |
ORPHA:464306 |
Danon Disease |
|
Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Lower limb amyotrophy, Myocardial fibr... |
OMIM:300257 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
11 pairs of ribs, Brittle hair, Short long bone, Short palm, Enamel hypoplasia, Brachydactyly |
OMIM:619184 |
Cardiomyopathy, Familial Hypertrophic, 26 |
|
Hypertrophic cardiomyopathy, Left atrial enlargement, Right atrial enlargement |
OMIM:617047 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Respiratory distress, Ventricular septal defect, Proximal placement of thumb, Preaxial hand polyd... |
OMIM:610536 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Bicuspid aortic valve, Pectus excavatum, Kyphosis, Vertebral segmentation defec... |
ORPHA:96169 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Aortic regurgitation, Ventricular septal defect, Polyhydramnios, Ankle flexion contracture, Pectu... |
ORPHA:464311 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Follicular hyperplasia, Paratracheal lymphadenopathy, Leukopenia, Thrombocytosis, Lymphopenia, An... |
OMIM:615934 |
4Q21 Microdeletion Syndrome |
|
Toe syndactyly, Short neck, Kyphosis, Small hand, Short foot, Scoliosis, Short palm |
ORPHA:238750 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Apnea, Rocker bottom foot, Edema, Postaxial polydactyly, Kyphosis, Long fingers, Respiratory insu... |
OMIM:617527 |
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Ragged-red muscle fibers |
ORPHA:1349 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Abnormal finger morphology, Symphalangism affecting the phalanges of the hand, Short palm, Elbow ... |
ORPHA:2658 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Skeletal muscle atrophy, Facial palsy, Ragged-red muscle fibers, Rhabdomyolysis, Limb muscle weak... |
OMIM:157640 |
Posterior Urethral Valve |
|
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye... |
ORPHA:93110 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Kyphosis, Pectus carinatum |
ORPHA:500180 |
Spastic Paraplegia 80, Autosomal Dominant |
|
Urinary urgency |
OMIM:618418 |
Menkes Disease |
|
Alopecia, Brittle hair, Metaphyseal spurs, Microcephaly, Metaphyseal widening, Cutis laxa, Sparse... |
OMIM:309400 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Skeletal muscle atrophy, Hepatomegaly, Limb joint contracture, Seborrheic dermatitis, Splenomegal... |
OMIM:301072 |
Zimmermann-Laband Syndrome 2 |
|
Kyphosis, Short neck |
OMIM:616455 |
Combined Oxidative Phosphorylation Deficiency 24 |
|
Skeletal muscle atrophy, Ragged-red muscle fibers, Myopathy, Weakness of facial musculature |
OMIM:616239 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Kyphosis, Ventricular septal defect, Scoliosis, Abnormal heart morphology |
ORPHA:404440 |
Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Curly hair, Right ventricular cardiomyopathy... |
OMIM:601214 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Vertebral fusion, Congenital muscular torticollis, Vaginal hernia, Abnormal dental enamel morphol... |
ORPHA:2916 |
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Muscle fiber atrophy, Rhabdomyolysis, Increased muscle lipid content |
ORPHA:228302 |
Osteopetrosis, Autosomal Dominant 1 |
|
Mandibular pain, Abnormal pelvic girdle bone morphology, Abnormality of the vertebral column, Cal... |
OMIM:607634 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Respiratory distress, Overlapping toe, Craniosynostosis, Hypertension, Limited elbow extension |
OMIM:123790 |
Hereditary Acrokeratotic Poikiloderma |
|
Finger syndactyly, Camptodactyly of finger, Trismus, Erythema, Abnormal rib morphology, Skin ulce... |
ORPHA:2907 |
Cerebrofaciothoracic Dysplasia |
|
Short neck, Hemivertebrae, Rib fusion, Vertebral segmentation defect, Narrow chest, Scoliosis, Bi... |
ORPHA:1394 |
Autosomal Dominant Spastic Paraplegia Type 41 |
|
Urinary urgency, Lower limb amyotrophy, Hand muscle weakness |
ORPHA:320355 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Kyphosis, Thin skin, Striae distensae |
OMIM:610489 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 |
|
Hallux valgus, Hyperextensibility of the finger joints, Hyperlordosis, Kyphosis, Hip dislocation,... |
OMIM:617821 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Skeletal muscle atrophy, Upper-limb joint contracture, Distal amyotrophy, Lower-limb joint contra... |
ORPHA:300605 |
Monosomy 9Q22.3 |
|
Delayed eruption of teeth, Rhabdomyosarcoma, Short neck, Pectus excavatum, Kyphosis, Abnormal rib... |
ORPHA:77301 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Flexion contracture, Thin ribs |
OMIM:614833 |
Spastic Paraplegia 84, Autosomal Recessive |
|
Hip contracture, Ankle flexion contracture, Knee flexion contracture, Urinary urgency, Crohn's di... |
OMIM:619621 |
Pallister-Hall Syndrome |
|
Microretrognathia, Mesoaxial polydactyly, Radial bowing, Umbilical hernia, Polydactyly affecting ... |
ORPHA:672 |
Harrod Syndrome |
|
Arachnodactyly, Microcephaly, Kyphosis, Dental malocclusion, Abnormal shoulder morphology, Abnorm... |
ORPHA:2115 |
Sandhoff Disease |
|
Hepatomegaly, Skeletal muscle atrophy, Cardiomegaly, Hepatosplenomegaly, Macroglossia, Macrocephaly |
OMIM:268800 |
X-Linked Intellectual Disability, Cabezas Type |
|
Inguinal hernia, Toe syndactyly, Sandal gap, Down-sloping shoulders, Camptodactyly of finger, Sho... |
ORPHA:85293 |
2Q31.1 Microdeletion Syndrome |
|
Short neck, Abnormal tibia morphology, Vertebral segmentation defect, Short palm, Clinodactyly of... |
ORPHA:251014 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Cardiomegaly, Cardiomyopathy, Myopathy, Left ventricular hypertrophy |
OMIM:617713 |
Ebola Hemorrhagic Fever |
|
Acute pancreatitis, Hepatitis, Leukopenia, Lymphopenia, Thrombocytopenia |
ORPHA:319218 |
Behçet Disease |
|
Aortic regurgitation, Gastrointestinal hemorrhage, Pericarditis, Myocardial infarction, Pulmonary... |
ORPHA:117 |
Multiple Sclerosis, Susceptibility To |
|
Urinary hesitancy, Urinary incontinence |
OMIM:126200 |
Idiopathic Juvenile Osteoporosis |
|
Kyphosis, Vertebral compression fracture, Osteoporosis, Recurrent fractures |
ORPHA:85193 |
Macrocephaly/Autism Syndrome |
|
Splenomegaly, Hepatomegaly, Lymphopenia |
OMIM:605309 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Anemia, Hematuria, Microangiopathic hemolytic ane... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Anemia, Hematuria, Microangiopathic hemolytic ane... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Anemia, Hematuria, Microangiopathic hemolytic ane... |
OMIM:612926 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Decreased muscle mass, Ragged-red muscle fibers, Foot dorsiflexor weakness, Abnormality of the ex... |
ORPHA:298 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Skeletal muscle atrophy, Cardiomegaly, Flexion contracture, Premature graying of hair, Hepatomega... |
OMIM:256040 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
EMG: myopathic abnormalities, Ragged-red muscle fibers, Limb muscle weakness |
OMIM:609286 |
Plague |
|
Abnormal bleeding, Chapped lip, Tachycardia, Respiratory distress, Skin rash, Edema, Hematemesis,... |
ORPHA:707 |
Genitopatellar Syndrome |
|
Hip contracture, Sparse scalp hair, Congenital hip dislocation, Micrognathia, Patellar aplasia, I... |
OMIM:606170 |
Osteogenesis Imperfecta, Type Iv |
|
Biconcave flattened vertebrae, Recurrent fractures, Kyphosis, Reduced bone mineral density, Incre... |
OMIM:166220 |
Camptodactyly Syndrome, Guadalajara Type 3 |
|
Sternocleidomastoid amyotrophy, Broad femoral neck, Short neck, Small hand, Abnormal rib morpholo... |
ORPHA:488434 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Decreased muscle mass, Abnormal metacarpophalangeal joint morphology, Cardiomegaly,... |
ORPHA:465508 |
Alternating Hemiplegia Of Childhood |
|
Respiratory distress, Apnea, Facial hypotonia, Cardiac conduction abnormality, Dehydration, Aspir... |
ORPHA:2131 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Recurrent respiratory infections, Inguinal hernia, Pectus excavatum, Reduced bone mineral density... |
ORPHA:935 |
Urofacial Syndrome 1 |
|
Recurrent urinary tract infections, Urethral valve, Hydroureter, Cryptorchidism, Urethral obstruc... |
OMIM:236730 |
Autosomal Recessive Spastic Paraplegia Type 77 |
|
Neurogenic bladder, Sudden episodic apnea, Urinary incontinence, Detrusor sphincter dyssynergia, ... |
ORPHA:466722 |
Primary Hyperoxaluria Type 1 |
|
Calcinosis, Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 ... |
ORPHA:93598 |
Phacoanaphylactic Uveitis |
|
Anterior uveitis, Keratitis, Hyphema, Retinal arteritis, Macular edema, Corneal stromal edema, Pa... |
ORPHA:209959 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Anemia, Hematuria, Microangiopathic hemolytic ane... |
OMIM:612924 |
Hyper-Igd Syndrome |
|
Neutrophilia, Lymphadenitis, Leukocytosis, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly |
OMIM:260920 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Osteopenia, Recurrent respiratory infections, Kyphosis, Flexion contracture, Osteoporosis, Xerost... |
ORPHA:398069 |
Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Osteopenia, Sacral dimple, Eczema, Short neck, Pectus excavatum, Kyphosis, Prominent protruding c... |
OMIM:300966 |
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Hip contracture, Calcification of the auricular cartilage, Pectus excavatum, Kyphosis, Bone cyst,... |
ORPHA:3042 |
Spastic Paraplegia 78, Autosomal Recessive |
|
Urinary urgency |
OMIM:617225 |
Cockayne Syndrome Type 2 |
|
Scarring, Kyphosis, Flexion contracture, Uveitis, Conjunctivitis, Scoliosis, Enamel hypoplasia, S... |
ORPHA:90322 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Recurrent urinary tract infections, Flexion contracture, Urinary urgency, Urinary retention, Aspi... |
ORPHA:99027 |
Cardiomyopathy, Dilated, 1A |
|
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, P... |
OMIM:115200 |
Meckel Syndrome, Type 1 |
|
Omphalocele, Syndactyly, Bowing of the long bones, Camptodactyly of finger, Postaxial polydactyly... |
OMIM:249000 |
Oculoectodermal Syndrome |
|
Transient ischemic attack, Lymphedema, Short neck, Patent ductus arteriosus, Coarctation of aorta... |
OMIM:600268 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Hypoplastic iliac wing, Metaphyseal chondrodysplasia, Abnormality of the calcaneus, Thin ribs, Me... |
ORPHA:163966 |
Saethre-Chotzen Syndrome |
|
Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Partial duplication of the di... |
OMIM:101400 |
Hypotonia-Cystinuria Syndrome |
|
Ragged-red muscle fibers, Facial palsy |
OMIM:606407 |
Autosomal Dominant Spastic Paraplegia Type 37 |
|
Urinary urgency, Lower limb muscle weakness |
ORPHA:171612 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Short humerus, Trident pelvis, Bowed humerus, Flexion contracture, Hypertrichosis, Short long bon... |
OMIM:619479 |
Autosomal Dominant Spastic Paraplegia Type 19 |
|
Urinary urgency, Lower limb amyotrophy, Lower limb muscle weakness |
ORPHA:100999 |
Smith-Lemli-Opitz Syndrome |
|
Proximal placement of thumb, 2-3 toe cutaneous syndactyly, Abnormal lung lobation, Atrial septal ... |
OMIM:270400 |
Wrinkly Skin Syndrome |
|
Osteopenia, Scapular winging, Inguinal hernia, Congenital hip dislocation, Hypoplasia of the musc... |
OMIM:278250 |
Biotinidase Deficiency |
|
Respiratory distress, Skin rash, Apnea, Conjunctivitis, Limb muscle weakness, Eczematoid dermatit... |
ORPHA:79241 |
Cardiofacioneurodevelopmental Syndrome |
|
Kyphosis, Atrioventricular canal defect, Ventricular septal defect, Pulmonic stenosis |
OMIM:619123 |
Developmental Malformations-Deafness-Dystonia Syndrome |
|
Kyphosis, Hypoplastic scapulae, Scoliosis |
ORPHA:79107 |
Gracile Bone Dysplasia |
|
Flared metaphysis, Thin ribs, Decreased skull ossification, Slender long bone, Ascites, Brachydac... |
OMIM:602361 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Internally rotated shoulders, Apn... |
OMIM:619503 |
Wiedemann-Rautenstrauch Syndrome |
|
Short neck, Secundum atrial septal defect, Flexion contracture, Narrow chest, Generalized amyotro... |
OMIM:264090 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Centrally nucleated skeletal muscle fibers, Flexion contracture, Skeletal muscle hypertrophy, Mus... |
OMIM:613327 |
Intellectual Developmental Disorder, Autosomal Dominant 57 |
|
Brachydactyly, Craniosynostosis, Kyphosis, Contracture of the proximal interphalangeal joint of t... |
OMIM:618050 |
Hinman Syndrome |
|
Renal insufficiency, Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydrone... |
ORPHA:84085 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Pulmonary hypoplasia |
OMIM:231680 |
Chime Syndrome |
|
Aplastic clavicle, Aplasia/Hypoplasia of the phalanges of the hand, Hip dislocation, Clubbing of ... |
ORPHA:3474 |
Oromandibular Dystonia |
|
Respiratory distress, Torticollis |
ORPHA:93958 |
Kabuki Syndrome 1 |
|
Ureteropelvic junction obstruction, Hemolytic anemia, Crossed fused renal ectopia, Atrial septal ... |
OMIM:147920 |
Herpes Simplex Virus Encephalitis |
|
Leukocytosis, Neutrophilia |
ORPHA:1930 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Hepatomegaly, Pancytopenia, Portal hypertension, Splenomegaly, Leukocytosis, Hepatosplenomegaly, ... |
OMIM:615688 |
Vater/Vacterl Association |
|
Syndactyly, Ventricular septal defect, Absent radius, Short thumb, Patent ductus arteriosus, Hypo... |
OMIM:192350 |
Chronic Graft Versus Host Disease |
|
Fasciitis, Pancytopenia, Alopecia, Phimosis, Urinary bladder inflammation, Dyspnea, Pneumothorax,... |
ORPHA:99921 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Situs inversus totalis, Respiratory distress, Polyhydramnios |
ORPHA:990 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Scapular winging, Ragged-red muscle fibers, Generalized limb muscle atrophy |
OMIM:600462 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Osteopenia, Mitral valve calcification, Tricuspid regurgitation, Sandal gap, Decreased fibular di... |
OMIM:619127 |
Familial Calcium Pyrophosphate Deposition |
|
Abnormal intervertebral disk morphology, Calcification of cartilage |
ORPHA:1416 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Finger syndactyly, Brachydactyly, Abnormal dental enamel morphology, Joint stiffness, Kyphosis, H... |
ORPHA:1005 |
Spinocerebellar Ataxia 42 |
|
Urinary urgency, Urinary incontinence |
OMIM:616795 |
Chromosome Xq26.3 Duplication Syndrome |
|
Ventricular hypertrophy, Kyphosis |
OMIM:300942 |
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
|
Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Tetralogy of Fallot, Pat... |
OMIM:618748 |
Moderate Hemophilia A |
|
Cartilage destruction, Hip contracture, Intramuscular hematoma |
ORPHA:169805 |
Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia |
|
Highly arched eyebrow, Synophrys, Urinary urgency, Long eyelashes, Frontal upsweep of hair |
OMIM:619286 |
Microphthalmia, Lenz Type |
|
Abnormal clavicle morphology, Finger syndactyly, Camptodactyly of finger, Hyperlordosis, Kyphosis... |
ORPHA:568 |
Megalocornea-Intellectual Disability Syndrome |
|
Osteopenia, Tapered finger, Kyphosis, Joint hyperflexibility, Scoliosis, Metatarsus valgus, Genu ... |
ORPHA:2479 |
Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Arachnodactyly, Camptodactyly of finger, Kyphosis, Joint contracture of the 5th finger, Scoliosis |
ORPHA:1883 |
Unilateral Polymicrogyria |
|
Apnea, Epistaxis, Pulmonary arteriovenous malformation, Microcephaly, Abnormal heart morphology, ... |
ORPHA:268943 |
Pulmonary Hypertension, Primary, 4 |
|
Atrial flutter, Pulmonary arterial hypertension with lack of acute response to NO challenge, Firs... |
OMIM:615344 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Cardiomyopathy, Pulmonary edema, Cardiomegaly |
OMIM:105210 |
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Syndactyly, Broad hallux, Sandal gap, Short neck, Fine hair, Cutis laxa, Hypoplasia of the zygoma... |
OMIM:614800 |
X-Linked Intellectual Disability, Nascimento Type |
|
Recurrent respiratory infections, Mitral stenosis, Ventricular septal defect, Patent ductus arter... |
ORPHA:163956 |
Autosomal Dominant Spastic Paraplegia Type 10 |
|
Distal lower limb amyotrophy, Dupuytren contracture, Spastic/hyperactive bladder, Upper limb amyo... |
ORPHA:100991 |
Chromosome 3Q13.31 Deletion Syndrome |
|
Kyphosis |
OMIM:615433 |
Postencephalitic Parkinsonism |
|
Kyphosis, Camptocormia, Abnormal respiratory system physiology, Cough |
ORPHA:97349 |
Spastic Paraplegia 26, Autosomal Recessive |
|
Urinary urgency, Upper limb muscle weakness, Lower limb muscle weakness, Distal lower limb amyotr... |
OMIM:609195 |
Reactive Arthritis |
|
Pericarditis, Abnormal pleura morphology, Cartilage destruction, Respiratory insufficiency, Pulmo... |
ORPHA:29207 |
Lacrimoauriculodentodigital Syndrome |
|
Syndactyly, Finger syndactyly, Toe syndactyly, Duplication of thumb phalanx, Abnormal dental enam... |
ORPHA:2363 |
Adrenocortical Carcinoma |
|
Lung adenocarcinoma, Striae distensae, Hypertrichosis |
ORPHA:1501 |
Niemann-Pick Disease Type C |
|
Fetal ascites, Bone-marrow foam cells, Abnormal lung morphology, Aplasia/Hypoplasia of the abdomi... |
ORPHA:646 |
Pmm2-Cdg |
|
Osteopenia, Respiratory distress, Pericarditis, Multiple joint contractures, Angina pectoris, Lip... |
ORPHA:79318 |
Cutis Laxa, Autosomal Dominant 3 |
|
Os odontoideum, Microcephaly, Adducted thumb, Hip dislocation, Cutis laxa, Premature skin wrinkli... |
OMIM:616603 |
Fetal Akinesia Deformation Sequence 1 |
|
Hip contracture, Decreased muscle mass, Nonimmune hydrops fetalis, Polyhydramnios, Elbow contract... |
OMIM:208150 |
Cystic Fibrosis |
|
Recurrent respiratory infections, Sinusitis, Absent vas deferens, Reduced forced expiratory volum... |
ORPHA:586 |
Spinocerebellar Ataxia 25 |
|
Urinary urgency, Facial myokymia |
OMIM:608703 |
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
Thoracolumbar scoliosis, Hyperlordosis, Kyphosis, Small hand, Genu valgum, Short foot, Short 5th ... |
OMIM:618443 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Reticulocytosis, Anuria, Thrombocytopenia, Leukocytosis, Peritonitis, Schistocytosis, Hemoglobinu... |
ORPHA:90038 |
Spastic Paraplegia 20, Autosomal Recessive |
|
Flexion contracture, Urinary urgency, Distal amyotrophy, Camptodactyly, Lower limb muscle weakness |
OMIM:275900 |
Aicardi Syndrome |
|
Block vertebrae, Proximal placement of thumb, Missing ribs, Hiatus hernia, Recurrent pneumonia, H... |
OMIM:304050 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Alopecia, Striae distensae, Hirsutism, Proximal amyotrophy |
ORPHA:189427 |
Spastic Paraplegia 15, Autosomal Recessive |
|
Urinary incontinence, Urinary urgency, Distal amyotrophy, Urinary bladder sphincter dysfunction, ... |
OMIM:270700 |
Cockayne Syndrome A |
|
Reduced subcutaneous adipose tissue, Hip contracture, Kyphosis, Enamel hypoplasia, Limitation of ... |
OMIM:216400 |
Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Cardiomegaly |
OMIM:255120 |
Spinocerebellar Ataxia Type 42 |
|
Urinary urgency, Psoriasiform dermatitis, Urinary incontinence |
ORPHA:458803 |
Pseudo-Torch Syndrome 3 |
|
Apnea, Respiratory insufficiency, Cardiomegaly |
OMIM:618886 |
Hypouricemia, Renal, 1 |
|
Proteinuria, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricosuria, Renal co... |
OMIM:220150 |
Robinow Syndrome, Autosomal Dominant 1 |
|
Broad toe, Brachydactyly, Limited elbow extension and supination, Rhizomelia, Inguinal hernia, Mi... |
OMIM:180700 |
Diamond-Blackfan Anemia |
|
Radial artery aplasia, Ventricular septal defect, Nonimmune hydrops fetalis, Short neck, Absent t... |
ORPHA:124 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Facial palsy, Quadriceps muscle weakness, Dilated cardiomyopathy, Ragged-red muscle fibers, Limb ... |
ORPHA:254892 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Respiratory distress, Skeletal muscle atrophy, Osteomyelitis leading to amputation due to slow he... |
OMIM:256810 |
Native American Myopathy |
|
Skeletal muscle atrophy, Abnormality of skeletal muscle fiber size, Congenital contracture, Campt... |
ORPHA:168572 |
Alström Syndrome |
|
Respiratory distress, Decreased response to growth hormone stimulation test, Urinary incontinence... |
ORPHA:64 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Skeletal muscle atrophy, Stage 3 chronic kidney disease, Anemia, Enuresis, Type 2 muscle fiber pr... |
OMIM:619743 |
Spinal Arteriovenous Metameric Syndrome |
|
Spinal arteriovenous malformation, Arteriovenous malformation, Urinary bladder sphincter dysfunct... |
ORPHA:53721 |
Cono-Spondylar Dysplasia |
|
Epiphyseal dysplasia, Short humerus, Polyhydramnios, Short neck, Kyphosis, Cone-shaped epiphyses ... |
ORPHA:420794 |
Pontine Tegmental Cap Dysplasia |
|
Aspiration, Rib fusion, Facial palsy |
OMIM:614688 |
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Kyphosis, Asthma, Flexion contracture, Small hand, Short foot, Hip dysplasia, Scoliosis |
ORPHA:500055 |
Autosomal Dominant Popliteal Pterygium Syndrome |
|
Finger syndactyly, Toe syndactyly, Micrognathia, Split hand, Abnormal rib morphology, Fibrous syn... |
ORPHA:1300 |
Cerebrocostomandibular Syndrome |
|
Neonatal respiratory distress, Cerebral calcification, Ventricular septal defect, Kyphosis, Poste... |
ORPHA:1393 |
Pulmonary Hypertension, Primary, 3 |
|
Increased pulmonary vascular resistance, Pulmonary arterial hypertension, Elevated pulmonary arte... |
OMIM:615343 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Respiratory distress, Facial hypotonia |
ORPHA:438216 |
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Flexion contracture, Spastic/hyperactive bladder, Generalized limb muscle atrophy, Leg muscle sti... |
ORPHA:137898 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Tapered finger, Pectus excavatum, Kyphosis, Complete atrioventricular canal defect, Unilateral ra... |
ORPHA:476126 |
Sandifer Syndrome |
|
Torticollis, Abnormal posturing, Decreased cervical spine mobility |
ORPHA:71272 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Reticulocytosis, Anuria, Hemolytic-uremic syndrome, Schistocytosis, Microangiopathic hemolytic an... |
OMIM:235400 |
Cushing Disease |
|
Sparse scalp hair, Striae distensae, Skin ulcer, Proximal amyotrophy, Thin skin, Ecchymosis, Vert... |
ORPHA:96253 |
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss |
|
Urinary urgency |
OMIM:601338 |
Orofaciodigital Syndrome Type 4 |
|
Finger syndactyly, Camptodactyly of finger, Micromelia, Micrognathia, Preaxial hand polydactyly, ... |
ORPHA:2753 |
16Q24.3 Microdeletion Syndrome |
|
Ventricular septal defect, Proximal placement of thumb, Kyphosis, Dilated cardiomyopathy, Mitral ... |
ORPHA:261250 |
Marden-Walker Syndrome |
|
Skeletal muscle atrophy, Ventricular septal defect, Dextrocardia, Camptodactyly of finger, Arachn... |
ORPHA:2461 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Apnea, Cardiac conduction abnormality, Dyspnea, Dilated cardiomyopathy, Episodic respiratory dist... |
ORPHA:255210 |
Agel Amyloidosis |
|
Facial palsy, Respiratory tract infection, Cutis laxa, Cardiomyopathy, Nail dystrophy, Sparse hai... |
ORPHA:85448 |
Neurofibromatosis Type 1 |
|
Recurrent fractures, Joint stiffness, Kyphosis, Arterial stenosis, Genu valgum, Multiple lipomas,... |
ORPHA:636 |
Pachyonychia Congenita |
|
Respiratory distress, Angular cheilitis |
ORPHA:2309 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Sacrococcygeal teratoma, Long clavicles, Increased density of long bones, Short neck, Wide distal... |
OMIM:269150 |
Kinsship Syndrome |
|
Pes planus, Single transverse palmar crease, Coxa valga, Micrognathia, Synophrys, Hip dislocation... |
OMIM:619297 |
Adrenoleukodystrophy |
|
Alopecia, Urinary incontinence, Hypogonadism, Urinary bladder sphincter dysfunction, Lower limb m... |
OMIM:300100 |
Orofaciodigital Syndrome Iii |
|
Pectus excavatum, Kyphosis, Short sternum |
OMIM:258850 |
Trisomy 9P |
|
Kyphosis, Sacral dimple, Scoliosis, Short neck |
ORPHA:236 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Bicuspid aortic valve, Mitral atresia, Aortic valve atresia, Coarctation of aorta, Left ventricul... |
OMIM:220111 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Torticollis, Tapered finger, Patent ductus arteriosus, Coarctation of aorta, Unilateral facial pa... |
OMIM:619480 |
Myasthenia, Limb-Girdle, Autoimmune |
|
Type 2 muscle fiber atrophy, Proximal amyotrophy |
OMIM:159400 |
Dopamine Beta-Hydroxylase Deficiency |
|
Dyspnea, Elevated urinary dopamine level, Anemia, Rhinitis, Nocturia |
ORPHA:230 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomyopathy, Limb muscle weakness, Cardiomegaly |
OMIM:619259 |
X-Linked Intellectual Disability, Snyder Type |
|
Long toe, Decreased muscle mass, Arachnodactyly, Recurrent fractures, Kyphoscoliosis, Pectus exca... |
ORPHA:3063 |
Spastic Paraplegia 29, Autosomal Dominant |
|
Urinary urgency, Urinary hesitancy, Urinary incontinence, Nocturia |
OMIM:609727 |
Oculogastrointestinal Muscular Dystrophy |
|
Abnormal mitral valve morphology |
ORPHA:1876 |
Adult Polyglucosan Body Disease |
|
Neurogenic bladder, Urinary bladder sphincter dysfunction, Urinary incontinence |
ORPHA:206583 |
Medullary cystic kidney disease 2 |
|
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Gout, Tubulointerstitial ne... |
OMIM:603860 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Osteomyelitis, Kyphosis, Scoliosis, Camptodactyly, Flexion contracture of finger |
ORPHA:88628 |
Pelizaeus-Merzbacher Disease |
|
Urinary urgency, Congenital laryngeal stridor |
OMIM:312080 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Joint laxity, Facial hypotonia, Kyphosis, Scoliosis, Abnormality of muscle size |
ORPHA:364028 |
Methylmalonic Aciduria, Cblb Type |
|
Respiratory distress, Dehydration |
OMIM:251110 |
Autosomal Dominant Spastic Paraplegia Type 12 |
|
Urinary urgency, Lower limb amyotrophy, Lower limb muscle weakness, Urinary incontinence |
ORPHA:100993 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Respiratory distress, Neonatal respiratory distress, Apnea, Hypopnea, Recurrent lower respiratory... |
OMIM:618426 |
Familial Mediterranean Fever |
|
Hepatomegaly, Neutrophilia, Splenomegaly, Leukocytosis, Peritonitis |
OMIM:249100 |
Srd5A3-Cdg |
|
Kyphosis, Abnormal sacrum morphology |
ORPHA:324737 |
Jaberi-Elahi Syndrome |
|
Joint stiffness, Kyphosis, Pectus carinatum, Scoliosis, Joint hypermobility |
OMIM:617988 |
Dent Disease |
|
Enlarged epiphyses, Bulging epiphyses, Osteomalacia, Recurrent fractures, Bowing of the legs, Del... |
ORPHA:1652 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Kyphosis, Distal amyotrophy, Flexion contracture, Scoliosis |
OMIM:609541 |
Cdags Syndrome |
|
Sagittal craniosynostosis, Kyphosis, Short ribs, Lambdoidal craniosynostosis, Short clavicles, Co... |
OMIM:603116 |
Semilobar Holoprosencephaly |
|
Central apnea, Decreased response to growth hormone stimulation test, Flexion contracture, Abnorm... |
ORPHA:220386 |
Alobar Holoprosencephaly |
|
Central apnea, Decreased response to growth hormone stimulation test, Flexion contracture, Abnorm... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Central apnea, Decreased response to growth hormone stimulation test, Flexion contracture, Abnorm... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Central apnea, Decreased response to growth hormone stimulation test, Flexion contracture, Abnorm... |
ORPHA:93924 |
Craniotubular Dysplasia, Ikegawa Type |
|
Metaphyseal dysplasia, Ventricular septal defect, Broad femoral neck, Increased intervertebral sp... |
OMIM:619727 |
Central Diabetes Insipidus |
|
Nocturia |
ORPHA:178029 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hypoventilation, Central hypoventilation, Decreased response to growth hormone stimulation test, ... |
ORPHA:293987 |
Nephrogenic Diabetes Insipidus |
|
Renal insufficiency, Hydroureter, Functional abnormality of the bladder, Enuresis nocturna, Hypos... |
ORPHA:223 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly |
OMIM:618838 |
Cowden Syndrome 5 |
|
Pectus excavatum, Kyphosis, Thyroiditis, Scoliosis, Subcutaneous lipoma |
OMIM:615108 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Limb joint contracture, Small for gestational age, Decreased resting energy expenditure, Achilles... |
ORPHA:404454 |
Sweet Syndrome |
|
Acute myeloid leukemia, Neutrophilia, Leukocytosis, Chronic lymphatic leukemia, Anemia, Sterile a... |
ORPHA:3243 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Ventricular septal defect, Kyphoscoliosis, Kyphosis, Hemivertebrae, Perimembranous ventricular se... |
OMIM:301040 |
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Abnormal clavicle morphology, Eczema, Aplastic clavicle, Abnormal dental enamel morphology, Tarsa... |
ORPHA:85199 |
Craniofacial Microsomia 1 |
|
Block vertebrae, Ventricular septal defect, Hypoplasia of facial musculature, Patent ductus arter... |
OMIM:164210 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Hyperlordosis, Tapered finger, Hip dislocation, Genu valgum, Hip dysplasia, Umbilical hernia, Cho... |
OMIM:301066 |
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Increased variability in muscle fiber diameter, Ragged-red muscle fibers |
ORPHA:70595 |
Methylmalonic Aciduria, Cbla Type |
|
Respiratory distress, Dehydration |
OMIM:251100 |
Progressive Non-Infectious Anterior Vertebral Fusion |
|
Abnormal intervertebral disk morphology, Spinal rigidity, Kyphosis, Hemivertebrae, Abnormality of... |
ORPHA:2062 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Respiratory distress, Congestive heart failure, Ascites, Polyhydramnios |
OMIM:617156 |
Craniosynostosis And Dental Anomalies |
|
Hallux valgus, Broad hallux, 2-3 toe syndactyly, Clinodactyly, Short phalanx of finger |
OMIM:614188 |
Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Pulmonary artery stenosis,... |
ORPHA:3427 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Hip contracture, Short neck, Pectus excavatum, Kyphosis, Broad distal phalanx of the toes, Elbow ... |
OMIM:619194 |
Elsahy-Waters Syndrome |
|
Synophrys, Shortening of all phalanges of fingers, Cutaneous finger syndactyly, Thick eyebrow, Br... |
OMIM:211380 |
Cowden Syndrome 6 |
|
Pectus excavatum, Kyphosis, Thyroiditis, Scoliosis, Subcutaneous lipoma |
OMIM:615109 |
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome |
|
Atrial septal defect, Abnormal mitral valve morphology |
ORPHA:1292 |
Neutral Lipid Storage Myopathy |
|
Hand muscle weakness, Fatty replacement of skeletal muscle, Generalized limb muscle atrophy, Myop... |
ORPHA:98908 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Sudden cardiac death, Pericardial effusion, Congestive heart failure, Dilated cardiomyopathy, Pul... |
ORPHA:73224 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Increased endomysial connective tissue, Flexion contracture, Muscular dystrophy |
OMIM:613154 |
Cockayne Syndrome B |
|
Reduced subcutaneous adipose tissue, Cerebellar calcifications, Kyphosis, Basal ganglia calcifica... |
OMIM:133540 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Urinary bladder sphincter dysfunction |
ORPHA:320401 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Urethral stricture, Renal insufficiency, Recurrent skin infections, Glomerulonephritis, Foot join... |
ORPHA:79408 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Neonatal respiratory distress, Ventricular septal defect, Micrognathia, Cardiomegal... |
ORPHA:96191 |
Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Tachypnea, Pallor, Cough, Pulmonary edema |
ORPHA:137675 |
Rodrigues Blindness |
|
Nasal flaring |
OMIM:268320 |
Kbg Syndrome |
|
Vertebral fusion, Syndactyly, Short neck, Rib fusion, Vertebral arch anomaly, Cutaneous syndactyl... |
OMIM:148050 |
Familial Renal Glucosuria |
|
Recurrent urinary tract infections, Elevated hemoglobin A1c, Renal tubular dysfunction, Enuresis,... |
ORPHA:69076 |
Spinocerebellar Ataxia 2 |
|
Distal amyotrophy, Urinary bladder sphincter dysfunction, Urinary incontinence |
OMIM:183090 |
East Syndrome |
|
Renal salt wasting, Renal magnesium wasting, Enuresis, Abnormal urinary electrolyte concentration... |
ORPHA:199343 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Macroglossia, Kyphosis, Palpebral edema, Scoliosis |
ORPHA:261144 |
Tetrasomy 9P |
|
Aplasia/Hypoplasia of the clavicles, Sacral dimple, Juxtaductal coarctation of the aorta, Hypopla... |
ORPHA:3310 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Ragged-red muscle fibers, Decreased level of coenzyme Q10 in skeletal muscle |
OMIM:607426 |
Aspartylglucosaminuria |
|
Joint laxity, Recurrent respiratory infections, Acne, Kyphosis, Macroglossia, Platyspondyly, Mitr... |
OMIM:208400 |
Aicardi Syndrome |
|
Block vertebrae, Missing ribs, Hiatus hernia, Rib fusion, Small hand, Multiple lipomas, Hip dyspl... |
ORPHA:50 |
Yellow Fever |
|
Acute pancreatitis, Neutrophilia, Skin rash, Anuria, Renal insufficiency, Leukocytosis, Pancreati... |
ORPHA:99829 |
Osteopetrosis With Renal Tubular Acidosis |
|
Cerebral calcification, Recurrent fractures, Pectus excavatum, Basal ganglia calcification, Osteo... |
ORPHA:2785 |
Adrenomyeloneuropathy |
|
Urinary incontinence, Frontal balding, Adrenocorticotropic hormone excess, Urinary urgency, Fine ... |
ORPHA:139399 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Neonatal respiratory distress, Cardiomegaly, Cardiomyopathy, Abnormal myocardium mo... |
ORPHA:228308 |
Abetalipoproteinemia |
|
Hepatomegaly, Kyphoscoliosis, Cardiomegaly, Myopathy, Respiratory failure, Distal lower limb musc... |
ORPHA:14 |
Cowden Syndrome 1 |
|
Pectus excavatum, Kyphosis, Thyroiditis, Scoliosis, Subcutaneous lipoma |
OMIM:158350 |
Wolf-Hirschhorn Syndrome |
|
Decreased muscle mass, Abnormal form of the vertebral bodies, Atrial septal defect, Vertebral fus... |
OMIM:194190 |
Multiple Endocrine Neoplasia, Type Iib |
|
Joint laxity, Hyperlordosis, Pectus excavatum, Kyphosis, Myopathy, Scoliosis, Proximal femoral ep... |
OMIM:162300 |
Lysinuric Protein Intolerance |
|
Hepatomegaly, Skeletal muscle atrophy, Splenomegaly, Intraalveolar phospholipid accumulation, Res... |
OMIM:222700 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Respirator... |
OMIM:614748 |
Reynolds Syndrome |
|
Hepatomegaly, Splenomegaly, Jaundice, Biliary cirrhosis, Cholestasis, Lymphopenia |
OMIM:613471 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Neonatal respiratory distress, Decreased heart rate variability, Kyphosis, Increased femoral ante... |
OMIM:619005 |
Overlap Myositis |
|
Perifascicular muscle fiber atrophy, Proximal muscle weakness in upper limbs, Distal lower limb m... |
ORPHA:206572 |
Townes-Brocks Syndrome |
|
Broad hallux phalanx, Toe syndactyly, Abnormal pulmonary valve morphology, Preaxial hand polydact... |
ORPHA:857 |
Cowden Syndrome |
|
Brachydactyly, Pectus excavatum, Kyphosis, Bone cyst, Macroglossia, Scoliosis, Lipoma, Mucosal te... |
ORPHA:201 |
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Osteopenia, Joint hypermobility, Kyphosis, Osteoporosis, Scoliosis, Bicoronal synostosis |
OMIM:619718 |
Nelson Syndrome |
|
Abnormality of the sphenoid sinus, Striae distensae, Lower limb muscle weakness, Quadriceps muscl... |
ORPHA:199244 |
Distal 16P11.2 Microdeletion Syndrome |
|
Kyphosis |
ORPHA:261222 |
Spastic Ataxia 3, Autosomal Recessive |
|
Urinary urgency, Neurogenic bladder |
OMIM:611390 |
Kearns-Sayre Syndrome |
|
Ragged-red muscle fibers |
OMIM:530000 |
X-Linked Adrenoleukodystrophy |
|
Neurogenic bladder, Urinary bladder sphincter dysfunction, Leg muscle stiffness |
ORPHA:43 |
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features |
|
Inguinal hernia, Pectus excavatum, Kyphosis, Radial deviation of finger, Clinodactyly |
OMIM:609944 |
Rett Syndrome, Congenital Variant |
|
Kyphosis, Scoliosis, Aspiration |
OMIM:613454 |
Early-Onset Autosomal Dominant Alzheimer Disease |
|
Deposits immunoreactive to beta-amyloid protein |
ORPHA:1020 |
Spinocerebellar Ataxia 1 |
|
Skeletal muscle atrophy, Distal amyotrophy, Urinary bladder sphincter dysfunction |
OMIM:164400 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Osteopenia, Small hypothenar eminence, Lumbar hyperlordosis, Thenar muscle atrophy, Kyphosis, Ost... |
ORPHA:2232 |
Spinocerebellar Ataxia 10 |
|
Urinary urgency, Urinary incontinence |
OMIM:603516 |
Machado-Joseph Disease |
|
Distal amyotrophy, Urinary bladder sphincter dysfunction |
OMIM:109150 |
Autosomal Recessive Ataxia, Beauce Type |
|
Kyphosis, Lower limb muscle weakness, Scoliosis, Skeletal muscle atrophy |
ORPHA:88644 |
Alexander Disease Type Ii |
|
Limb muscle weakness, Urinary bladder sphincter dysfunction |
ORPHA:363722 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Sparse scalp hair, Striae distensae, Small cell lung carcinoma, Skin ulcer, Proximal amyotrophy, ... |
ORPHA:99889 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Bicuspid aortic valve, Flexion contracture, Calcaneovalgus deformity, Pectus carinatum, Abnormali... |
ORPHA:261537 |
Glycogen Storage Disease Xii |
|
Myopathy, Increased variability in muscle fiber diameter, Muscle fiber splitting |
OMIM:611881 |
Friedreich Ataxia |
|
Hand muscle atrophy, Cardiomyopathy, Urinary bladder sphincter dysfunction |
ORPHA:95 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Episcleritis, Recurrent respiratory infections, Inguinal hernia, Omphalocele, Abnormal pelvis bon... |
ORPHA:2273 |
Gaucher Disease |
|
Mitral valve calcification, Abnormal heart valve morphology, Abnormal pericardium morphology, Abn... |
ORPHA:355 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Fasciitis, Osteomyelitis, Abscess, Chronic kidney disease, Aplasia of the sweat glands, Septic ar... |
ORPHA:642 |
Shprintzen Omphalocele Syndrome |
|
Omphalocele, Neonatal respiratory distress, Lumbar hyperlordosis, Kyphosis, Narrow chest, Scoliosis |
OMIM:182210 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Respiratory distress, Rhinitis, Eczema |
OMIM:305100 |
Spastic Ataxia, Charlevoix-Saguenay Type |
|
Urinary urgency, Distal amyotrophy, Peroneal muscle atrophy |
OMIM:270550 |
Superficial Siderosis |
|
Subarachnoid hemorrhage, Functional abnormality of the bladder, Abnormal vertebral artery morphol... |
ORPHA:247245 |
Citrullinemia Type Ii |
|
Enuresis, Pancreatitis, Hepatomegaly |
ORPHA:247585 |
Spastic Paraplegia 9A, Autosomal Dominant |
|
Urinary urgency, Generalized amyotrophy, Urinary incontinence |
OMIM:601162 |
Exercise-Induced Malignant Hyperthermia |
|
Crackles, Tachypnea, Rhabdomyolysis, Oliguria, Hypocapnia, Acute kidney injury, Thrombocytopenia |
ORPHA:466650 |
Acute Transverse Myelitis |
|
Urinary incontinence, Abscess, Subarachnoid hemorrhage, Autoimmunity, Systemic lupus erythematosu... |
ORPHA:139417 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Aortic regurgitation, Hallux valgus, Sacral dimple, Inguinal hernia, Ventricular septal defect, A... |
ORPHA:268261 |
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies |
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Short fourth metatarsal, Overlapping toe, Kyphosis, Bilateral camptodactyly, Scoliosis, Prominent... |
OMIM:619557 |
Spinocerebellar Ataxia Type 13 |
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Urinary urgency, Torticollis, Urinary incontinence |
ORPHA:98768 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Bicuspid aortic valve, Flexion contracture, Calcaneovalgus deformity, Pectus carinatum, Abnormali... |
ORPHA:261552 |
Thyrotoxic Periodic Paralysis |
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Rhabdomyolysis, Lower limb muscle weakness, Increased intramyocellular lipid droplets, Abnormal m... |
ORPHA:79102 |
Primrose Syndrome |
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Skeletal muscle atrophy, Cerebral calcification, Flexion contracture, Reduced bone mineral densit... |
OMIM:259050 |
Arachnoid Cyst |
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Encephalocele, Facial palsy, Urinary incontinence, Subarachnoid hemorrhage, Urinary bladder sphin... |
ORPHA:2356 |
Mend Syndrome |
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Sacral dimple, Broad hallux, Overlapping toe, Kyphosis, Long fingers, 2-3 toe syndactyly, Abnorma... |
ORPHA:401973 |
Spinocerebellar Ataxia, Autosomal Recessive 7 |
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Urinary urgency |
OMIM:609270 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
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Urethral stricture, Hypospadias, Urinary incontinence, Ventricular septal defect, Renal agenesis,... |
OMIM:619522 |
Lowe Oculocerebrorenal Syndrome |
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Osteomalacia, Camptodactyly of finger, Kyphosis, Rickets, Hip dislocation, Corneal scarring, Genu... |
OMIM:309000 |
Branchiooculofacial Syndrome |
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Facial palsy, Supernumerary nipple, Microcephaly, Proximal placement of thumb, Short thumb, Preax... |
OMIM:113620 |
Acromegaly |
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Palpebral edema, Acne, Macrodactyly, Tapered finger, Kyphosis, Osteoarthritis, Spinal canal steno... |
ORPHA:963 |
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
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Asthma, Nasal flaring, Brachydactyly, Short palm |
ORPHA:466943 |
Split Cord Malformation |
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Neurogenic bladder, Hypospadias, Urinary incontinence, Detrusor sphincter dyssynergia, Tufted hai... |
ORPHA:573278 |
Spinocerebellar Ataxia Type 10 |
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Urinary urgency |
ORPHA:98761 |
Mowat-Wilson Syndrome |
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Bicuspid aortic valve, Flexion contracture, Calcaneovalgus deformity, Pectus carinatum, Long toe,... |
ORPHA:2152 |
Familial Chylomicronemia Syndrome |
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Precocious atherosclerosis, Pulmonary embolism |
ORPHA:444490 |
Micro Syndrome |
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Kyphosis, Scoliosis, Joint stiffness |
ORPHA:2510 |
Combined Oxidative Phosphorylation Deficiency 12 |
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Ragged-red muscle fibers |
OMIM:614924 |
Perineural Cyst |
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Recurrent urinary tract infections, Urinary bladder sphincter dysfunction, Distal lower limb musc... |
ORPHA:65250 |
Weill-Marchesani Syndrome |
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Short thumb, Brachydactyly |
ORPHA:3449 |
Arachnoiditis |
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Urinary bladder sphincter dysfunction |
ORPHA:137817 |
Melas |
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Myopathy, Ragged-red muscle fibers, Abnormal mitochondria in muscle tissue, Stroke-like episode |
ORPHA:550 |
Somatomammotropinoma |
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Palpebral edema, Macrodactyly, Tapered finger, Kyphosis, Osteoarthritis, Spinal canal stenosis, H... |
ORPHA:314769 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
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Joint laxity, Lumbar hyperlordosis, Facial hypotonia, Arachnodactyly, Kyphoscoliosis, Kyphosis, L... |
ORPHA:457359 |
Autosomal Dominant Spastic Paraplegia Type 9A |
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Urinary urgency, Pollakisuria, Lower limb hypertonia, Urinary incontinence |
ORPHA:447753 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
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Kyphosis |
OMIM:619244 |
Mend Syndrome |
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Sacral dimple, Broad hallux, Overlapping toe, Kyphosis, Long fingers, 2-3 toe syndactyly, Polydac... |
OMIM:300960 |
Orthostatic Hypotension 1 |
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Weakness of facial musculature, Nocturia, Reduced circulating prolactin concentration |
OMIM:223360 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
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Urinary bladder sphincter dysfunction |
ORPHA:64753 |
Beckwith-Wiedemann Syndrome |
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Hepatomegaly, Diastasis recti, Cardiomegaly, Pancreatic hyperplasia, Cardiomyopathy, Macroglossia... |
OMIM:130650 |
Fraser Syndrome 1 |
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Aplasia/Hypoplasia of the thumb, Absent eyebrow, Aplasia/Hypoplasia of the sternum, Absent eyelas... |
OMIM:219000 |
Okamoto Syndrome |
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Ventricular septal defect, Abnormal left ventricle morphology, Primum atrial septal defect, Abnor... |
ORPHA:2729 |
Lafora Disease |
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Recurrent aspiration pneumonia |
ORPHA:501 |
Carney Complex |
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Cardiac myxoma, Hirsutism, Paranasal sinus neoplasm, Ductal carcinoma in situ, Striae distensae |
ORPHA:1359 |
Isolated Arrhinia |
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Respiratory distress |
ORPHA:1134 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
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Distal amyotrophy, Ragged-red muscle fibers |
OMIM:603041 |
Ramon Syndrome |
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Kyphosis, Juvenile rheumatoid arthritis, Scoliosis, Telangiectasia |
OMIM:266270 |
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
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Joint laxity, Arachnodactyly, Hyperlordosis, Kyphosis, Scoliosis |
OMIM:617011 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
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Skeletal muscle atrophy, Ragged-red muscle fibers, Increased intramyocellular lipid droplets |
OMIM:252010 |
Intellectual Disability-Alacrima-Achalasia Syndrome |
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Enuresis |
ORPHA:289483 |
Multiple System Atrophy 1, Susceptibility To |
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Urinary urgency, Skeletal muscle atrophy, Urinary incontinence |
OMIM:146500 |
Enamel-Renal Syndrome |
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Renal insufficiency, Hypophosphaturia, Impaired renal concentrating ability, Nephrocalcinosis, En... |
ORPHA:1031 |
Stiff Skin Syndrome |
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Knee flexion contracture, Lipodystrophy, Elbow flexion contracture, Camptodactyly |
OMIM:184900 |
Hereditary Late-Onset Parkinson Disease |
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Spastic/hyperactive bladder, Hypomimic face |
ORPHA:411602 |
Parkinson Disease, Late-Onset |
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Urinary urgency |
OMIM:168600 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
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Rhabdomyolysis, Ragged-red muscle fibers, Neonatal death |
OMIM:124000 |
Fragile X-Associated Tremor/Ataxia Syndrome |
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Pollakisuria, Urinary bladder sphincter dysfunction |
ORPHA:93256 |
Parkinson Disease 1, Autosomal Dominant |
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Urinary urgency |
OMIM:168601 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
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Cardiomegaly |
ORPHA:79280 |
Autosomal Recessive Spastic Paraplegia Type 35 |
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Kyphosis, Lower limb hypertonia, Foot dorsiflexor weakness |
ORPHA:171629 |
Isolated Posterior Meningocele |
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Meningocele, Lipomyelomeningocele, Enuresis, Neural tube defect, Occipital meningocele |
ORPHA:268810 |
Choreoacanthocytosis |
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Muscle fiber atrophy, Myopathy, Distal amyotrophy, Peroneal muscle atrophy |
ORPHA:2388 |
Parkinson Disease 14, Autosomal Recessive |
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Nocturia, Hypomimic face |
OMIM:612953 |
Isolated Ectopia Lentis |
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Mandibular prognathia, Malar flattening |
ORPHA:1885 |
Glaucoma-Ectopia Lentis-Microspherophakia-Stiff Joints-Short Stature Syndrome |
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ORPHA:2084 |
Ectopia Lentis 1, Isolated, Autosomal Dominant |
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OMIM:129600 |