Osteosclerotic Metaphyseal Dysplasia |
|
Increased bone mineral density, Elevated circulating alkaline phosphatase concentration, Clavicul... |
OMIM:615198 |
Acrocapitofemoral Dysplasia |
|
Short tibia, Flared iliac wing, Short proximal phalanx of finger, Pectus excavatum, Short femur, ... |
OMIM:607778 |
Hemoglobin D Disease |
|
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... |
ORPHA:90039 |
Fibular Hemimelia |
|
Short tibia, Hip subluxation, Limited knee flexion/extension, Hypoplastic acetabulae, Toe syndact... |
ORPHA:93323 |
Epiphyseal Chondrodysplasia, Miura Type |
|
Elevated alkaline phosphatase of bone origin, Long hallux, Epiphyseal dysplasia, Broad hallux, Sc... |
OMIM:615923 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Thin bony cortex, Generalized bone demineralization, Genu valgum, Genu varum, Metaphyseal irregul... |
OMIM:600785 |
Syndactyly Type 4 |
|
Triphalangeal thumb, Camptodactyly of finger, Short tibia, Foot polydactyly, Toe syndactyly, Hand... |
ORPHA:93405 |
Hypophosphatasia, Adult |
|
Low alkaline phosphatase, Increased susceptibility to fractures, Recurrent fractures, Osteomalaci... |
OMIM:146300 |
Sinoatrial Node Dysfunction And Deafness |
|
Abnormal QRS complex, Increased heart rate variability, Syncope, Bradycardia |
OMIM:614896 |
Van Buchem Disease |
|
Elevated circulating alkaline phosphatase concentration, Increased bone mineral density, Cranial ... |
OMIM:239100 |
Osteosarcoma |
|
Abnormal metaphysis morphology, Abnormal femoral metaphysis morphology, Elevated circulating alka... |
ORPHA:668 |
Sickle Cell Anemia |
|
Avascular necrosis, Osteomyelitis, Hemolytic anemia, Reticulocytosis, Persistence of hemoglobin F... |
ORPHA:232 |
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
|
Short tibia, Absent ossification of thoracic vertebral bodies, Hypoplasia of the radius, Absent o... |
OMIM:601376 |
Atrial Standstill |
|
Right bundle branch block, Mobitz I atrioventricular block, Ischemic stroke, Reduced left ventric... |
ORPHA:1344 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Short tibia, Short 4th metacarpal, Short long bone, Epiphyseal stippling, Short 3rd metacarpal, L... |
OMIM:118651 |
Osebold-Remondini Syndrome |
|
Short tibia, Short toe, Short phalanx of finger, Hypoplasia of the radius, Carpal synostosis, Dec... |
OMIM:112910 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Short neck, Decreased skull ossification, Scoliosis, Thrombocytopenia, Abnormal hemoglobi... |
ORPHA:3319 |
Acromesomelic Dysplasia 2A |
|
Short tibia, Short phalanx of finger, Flexion contracture, Aplasia/Hypoplasia involving the metac... |
OMIM:200700 |
Leri-Weill Dyschondrosteosis |
|
Short tibia, Short 4th metacarpal, Coxa valga, Abnormal carpal morphology, Increased carrying ang... |
OMIM:127300 |
Paget Disease Of Bone 4 |
|
Elevated circulating alkaline phosphatase concentration, Osteolysis |
OMIM:606263 |
Diamond-Blackfan Anemia 6 |
|
Triphalangeal thumb, Micrognathia, Tracheomalacia, Persistence of hemoglobin F, Mitral regurgitat... |
OMIM:612561 |
Atrial Fibrillation, Familial, 18 |
|
Third degree atrioventricular block, Permanent atrial fibrillation, Palpitations, Bradycardia, Fi... |
OMIM:617280 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Finger syndactyly, Abnormality of the elbow, Clinodactyly of the 5th finger, Radioulnar synostosi... |
ORPHA:3268 |
Calvarial Doughnut Lesions With Bone Fragility |
|
Recurrent fractures, Femoral bowing, Elevated circulating alkaline phosphatase concentration, Ost... |
OMIM:126550 |
Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
T-cell acute lymphoblastic leukemias, Type I diabetes mellitus, Pancytopenia, Increased mean corp... |
OMIM:620044 |
Acromesomelic Dysplasia, Grebe Type |
|
Short tibia, Short toe, Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia involving the metacar... |
ORPHA:2098 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Shoulder dislocation, Genu varum, Aplasia/Hypoplasia of the thumb, Asymmetric radial dysplasia, A... |
OMIM:171480 |
Multiple Epiphyseal Dysplasia Type 5 |
|
Genu varum, Genu valgum, Avascular necrosis of the capital femoral epiphysis, Decreased hip abduc... |
ORPHA:93311 |
Metatropic Dysplasia |
|
Flexion contracture, Flared iliac wing, Long coccyx, Delayed skeletal maturation, Enlarged joints... |
OMIM:156530 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Decreased mean corpuscular volume, Anemia, Sideroblastic anemia, Hypochromia |
OMIM:205950 |
Acromesomelic Dysplasia 2C |
|
Short tibia, Short foot, Hypoplasia of the radius, Radial bowing, Cuboidal metacarpal, Hip disloc... |
OMIM:201250 |
Léri-Weill Dyschondrosteosis |
|
Short tibia, Abnormal carpal morphology, Elbow dislocation, Madelung deformity, Abnormal metaphys... |
ORPHA:240 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Anemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia... |
OMIM:619041 |
Osteogenesis Imperfecta, Type Xi |
|
Increased susceptibility to fractures, Protrusio acetabuli, Biconcave vertebral bodies, Coxa vara... |
OMIM:610968 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Vertebral hypoplasia, Corner fracture of metaphysis, Limb pain, Short neck, Ovoid vertebral bodie... |
ORPHA:93315 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 18 |
|
Bradycardia |
OMIM:619521 |
Spondylometaphyseal Dysplasia, Type A4 |
|
Metaphyseal irregularity, Enlargement of the costochondral junction, Coxa valga, Sclerotic humera... |
OMIM:609052 |
Intellectual Developmental Disorder With Cardiac Arrhythmia |
|
Bradycardia, Sick sinus syndrome, Arrhythmia |
OMIM:617173 |
Fibrodysplasia Ossificans Progressiva |
|
Broad femoral neck, Ectopic ossification in ligament tissue, Small cervical vertebral bodies, Hal... |
OMIM:135100 |
Bone Marrow Failure Syndrome 6 |
|
Anemia, Lymphopenia, Persistence of hemoglobin F, Osteopenia, Increased mean corpuscular volume, ... |
OMIM:618849 |
Familial Expansile Osteolysis |
|
Thin bony cortex, Elevated circulating alkaline phosphatase concentration, Osteolysis, Pathologic... |
OMIM:174810 |
Intrinsic Factor Deficiency |
|
Increased mean corpuscular volume, Increased RBC distribution width, Megaloblastic anemia, Megalo... |
OMIM:261000 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Thrombocytopenia, Increased mean corpuscular volume |
OMIM:252270 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Thin bony cortex, Metaphyseal irregularity, Enlargement of the costochondral junction, Bulging of... |
OMIM:600081 |
Vitamin D-Dependent Rickets, Type 3 |
|
Genu varum, Metaphyseal cupping, Elevated circulating alkaline phosphatase concentration, Bowing ... |
OMIM:619073 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Micrognathia, Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, ... |
OMIM:300946 |
Methylcobalamin Deficiency Type Cble |
|
Clinodactyly, Hypertension, Pancytopenia, Syndactyly, Scoliosis, Macrocytic anemia, Increased mea... |
ORPHA:2169 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Thickened ribs, Craniofacial hyperostosis, Elevated circulating alkaline phosphatase concentratio... |
OMIM:122860 |
Spondylocostal Dysostosis 5 |
|
Vertebral fusion, Low back pain, Supernumerary ribs, Missing ribs, Posterior rib fusion, Butterfl... |
OMIM:122600 |
Camurati-Engelmann Disease, Type 2 |
|
Knee flexion contracture, Thoracolumbar scoliosis, Hip contracture, Elevated circulating alkaline... |
OMIM:606631 |
Brachydactyly, Type B1 |
|
Delayed cranial suture closure, Hypoplastic sacrum, Vertebral fusion, Thoracolumbar scoliosis, Jo... |
OMIM:113000 |
Oslam Syndrome |
|
Increased mean corpuscular volume, Radioulnar synostosis, Clinodactyly of the 5th finger, Abnorma... |
ORPHA:2760 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Back pain, Vertebral fusion, Block vertebrae, Vertebral segmentation defect, Kyphoscoliosis, Shor... |
OMIM:277300 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Polymorphic ventricular tachycardia, Ventricular tachycardia, Syncope, Bradycardia |
OMIM:611938 |
Otopalatodigital Syndrome Type 1 |
|
Hypoplastic frontal sinuses, Abnormality of the tarsal bones, Increased bone mineral density, Syn... |
ORPHA:90650 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Broad foot, Abnormal carpal morphology, Abnormal rib morphology, Abnormal metaphysis morphology, ... |
ORPHA:93351 |
Dehydrated Hereditary Stomatocytosis |
|
Increased mean corpuscular hemoglobin concentration, Congenital hemolytic anemia, Hemolytic anemi... |
ORPHA:3202 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Tapered finger, Impaired glucose tolerance, Clinodactyly of the 5th finger, Atrioventricular bloc... |
OMIM:614407 |
Intermediate Osteopetrosis |
|
Increased susceptibility to fractures, Osteomyelitis, Recurrent fractures, Erlenmeyer flask defor... |
ORPHA:210110 |
Hypophosphatasia, Childhood |
|
Bowing of the legs, Low alkaline phosphatase, Rachitic rosary, Craniosynostosis |
OMIM:241510 |
Diaphanospondylodysostosis |
|
Enlarged thorax, Short thorax, Absent or minimally ossified vertebral bodies, Missing ribs, Narro... |
ORPHA:66637 |
Myopathy, Myofibrillar, 1 |
|
Restrictive cardiomyopathy, Third degree atrioventricular block, Hyporeflexia of lower limbs, Dil... |
OMIM:601419 |
Sillence Syndrome |
|
Bulbous tips of toes, Large iliac wing, Large tarsal bones, Flat acetabular roof, Camptodactyly, ... |
ORPHA:3168 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular hemoglobin concentration, Hemolytic anemia, Anisopoikilocytosis, Retic... |
OMIM:616689 |
Spastic Paraplegia-Paget Disease Of Bone Syndrome |
|
Elevated circulating alkaline phosphatase concentration, Recurrent fractures, Increased spinal bo... |
ORPHA:329475 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Short tubular bones of the hand, Limb undergrowth, Metaphyseal cupping of proximal phalanges, Lum... |
ORPHA:174 |
Diamond-Blackfan Anemia 7 |
|
Triphalangeal thumb, Osteopenia, Macrocytic anemia, Scoliosis, Sprengel anomaly, Increased mean c... |
OMIM:612562 |
Langer Mesomelic Dysplasia |
|
Short tibia, Broad ulna, Short femoral neck, Hypoplasia of the radius, Micrognathia, Radial bowin... |
OMIM:249700 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Thin bony cortex, Broad tibial metaphyses, Increased bone mineral density, Broad femoral head, Fi... |
ORPHA:85188 |
Long Qt Syndrome 15 |
|
Polymorphic ventricular tachycardia, Ventricular ectopy, Cardiac arrest, Syncope, Ventricular fib... |
OMIM:616249 |
Chronic Atrial And Intestinal Dysrhythmia |
|
Pulmonic stenosis, Ventricular escape rhythm, Mitral regurgitation, Atrial flutter, Bradycardia, ... |
OMIM:616201 |
Shwachman-Diamond Syndrome |
|
Acute myeloid leukemia, Impaired neutrophil chemotaxis, Delayed skeletal maturation, Metaphyseal ... |
ORPHA:811 |
Aarskog-Scott Syndrome |
|
Camptodactyly of finger, Broad foot, Abnormality of the cervical spine, Short foot, Finger syndac... |
ORPHA:915 |
Diamond-Blackfan Anemia 3 |
|
Reticulocytopenia, Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular vol... |
OMIM:610629 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Short tibia, Absent thumb, Supernumerary ribs, Short femur, Hypoplasia of the ulna, Aplasia/Hypop... |
OMIM:612447 |
Diamond-Blackfan Anemia 8 |
|
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia |
OMIM:612563 |
Majeed Syndrome |
|
Flexion contracture, Osteomyelitis, Erythroid hyperplasia, Hepatosplenomegaly, Decreased mean cor... |
OMIM:609628 |
Hemoglobin E Disease |
|
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Hypochromi... |
ORPHA:2133 |
Metatropic Dysplasia |
|
Camptodactyly of finger, Abnormal enchondral ossification, Kyphosis, Narrow chest, Halberd-shaped... |
ORPHA:2635 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Sudden cardiac death, Impaired glucose tolerance, Type II diabetes mellitus, Hypertension, Gout, ... |
OMIM:610947 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Hypertrophic cardiomyopathy, Flexion contracture, Bradycardia, Dilated cardiomyopathy |
OMIM:618815 |
Kyphomelic Dysplasia |
|
Short thorax, Anterior rib cupping, Micrognathia, Missing ribs, Flat acetabular roof, Limitation ... |
ORPHA:1801 |
Endosteal Hyperostosis, Worth Type |
|
Abnormal cortical bone morphology, Craniofacial hyperostosis, Generalized osteosclerosis, Clavicu... |
ORPHA:2790 |
Kniest Dysplasia |
|
Dumbbell-shaped long bone, Short neck, Enlarged joints, Delayed patellar ossification, Delayed ep... |
ORPHA:485 |
Mesomelic Dysplasia, Savarirayan Type |
|
Short tibia, Delayed closure of the anterior fontanelle, Abnormal foot morphology, Abnormal thora... |
OMIM:605274 |
Paget Disease Of Bone 6 |
|
Elevated circulating alkaline phosphatase concentration, Recurrent fractures, Osteoarthritis |
OMIM:616833 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Thin bony cortex, Metaphyseal irregularity, Enlargement of the costochondral junction, Bulging of... |
OMIM:241530 |
Immunoerythromyeloid Hypoplasia |
|
Absent leukocyte alkaline phosphatase |
OMIM:242880 |
Thrombocytopenia-Absent Radius Syndrome |
|
Genu varum, Coxa valga, Patellar dislocation, Finger syndactyly, Tibial torsion, Micrognathia, Fu... |
ORPHA:3320 |
Bent Bone Dysplasia Syndrome 2 |
|
Short sternum, Short tibia, Hypoplastic iliac wing, Hypoplastic acetabulae, Short 1st metacarpal,... |
OMIM:620076 |
Long Qt Syndrome 16 |
|
T-wave alternans, Second degree atrioventricular block, Bradycardia, Prolonged QTc interval |
OMIM:618782 |
Hyperostosis Frontalis Interna |
|
Elevated circulating alkaline phosphatase concentration, Hyperostosis frontalis interna |
OMIM:144800 |
Short Rib-Polydactyly Syndrome |
|
Horizontal ribs, Short tibia, Polydactyly, Absent or minimally ossified vertebral bodies, Thoraci... |
ORPHA:1505 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Hypertrophic cardiomyopathy, Bradycardia, Scoliosis |
OMIM:616276 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Sacral dimple, Vertebral fusion, Short thorax, Short long bone, Vertebral segmentation defect, Ta... |
OMIM:618845 |
Isolated Klippel-Feil Syndrome |
|
Abnormal sacrum morphology, Abnormal vertebral segmentation and fusion, Sprengel anomaly, Short n... |
ORPHA:2345 |
Holt-Oram Syndrome |
|
Absent thumb, Pectus excavatum, Phocomelia, Abnormal rib morphology, Abnormality of the humerus, ... |
ORPHA:392 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Hyperlordosis, Kyphosis, Micrognathia, Fused cervical vertebrae, Pectus excavatum, Abnormal clavi... |
ORPHA:2522 |
Hypophosphatemic Rickets, Autosomal Dominant |
|
Elevated circulating alkaline phosphatase concentration, Hypophosphatemic rickets, Rickets, Osteo... |
OMIM:193100 |
Hereditary Central Diabetes Insipidus |
|
Polydipsia, Weight loss |
ORPHA:30925 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Anemia, Poikilocytosis, Abnormal erythrocyte morphology, Anisocytosis, Increased mean corpuscular... |
ORPHA:98870 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Elbow flexion contracture, Camptodactyly, Elbow contracture, Short neck, Arthrogryposis multiplex... |
OMIM:178110 |
Familial Pseudohyperkalemia |
|
Stomatocytosis, Hypertension, Reticulocytosis, Episodic hemolytic anemia, Increased mean corpuscu... |
ORPHA:90044 |
Multiple Synostoses Syndrome 2 |
|
Vertebral fusion, Humeroradial synostosis, Finger symphalangism, Carpal synostosis, Proximal symp... |
OMIM:610017 |
Lethal Faciocardiomelic Dysplasia |
|
Short tibia, Radial club hand, Short 5th finger, Hypoplasia of the radius, Microretrognathia, Hyp... |
ORPHA:1972 |
Neutrophilia, Hereditary |
|
Elevated leukocyte alkaline phosphatase |
OMIM:162830 |
Femoral-Facial Syndrome |
|
Aplasia/Hypoplasia of the tibia, Coxa vara, Micrognathia, Hip dysplasia, Maternal diabetes, Preax... |
ORPHA:1988 |
Paroxysmal Extreme Pain Disorder |
|
Bradycardia, Tachycardia |
OMIM:167400 |
Paget Disease Of Bone 3 |
|
Elevated circulating alkaline phosphatase concentration, Osteolysis, Patchy osteosclerosis, Fract... |
OMIM:167250 |
Idiopathic Congenital Hypothyroidism |
|
Delayed cranial suture closure, Delayed proximal femoral epiphyseal ossification, Abnormal epiphy... |
ORPHA:95717 |
Acquired Central Diabetes Insipidus |
|
Polydipsia, Weight loss |
ORPHA:95626 |
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Thoracic hemivertebrae, Type II diabetes mellitus, Fused cervical vertebrae, Abnormal sacrum morp... |
ORPHA:1436 |
Beta-Thalassemia Intermedia |
|
Pulmonary arterial hypertension, Increased susceptibility to fractures, Increased HbA2 hemoglobin... |
ORPHA:231222 |
Eiken Syndrome |
|
Short phalanx of finger, Broad foot, Short toe, Metaphyseal irregularity, Thin bony cortex, Abnor... |
ORPHA:79106 |
Microcephaly With Cervical Spine Fusion Anomalies |
|
Vertebral fusion, Spinal instability |
OMIM:251250 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Abnormal bone structure, Persistence of hemoglobin F |
ORPHA:46532 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Rickets, Increased bone mineral density, Hypophosphatemic rickets, Craniosynostosis |
OMIM:241520 |
Mesomelic Dysplasia, Kantaputra Type |
|
Camptodactyly of finger, Abnormality of the humerus, Synostosis of carpal bones, Abnormality of t... |
ORPHA:1836 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Hypoglycemia, Bradycardia, Congestive heart failure |
OMIM:619048 |
Stuve-Wiedemann Syndrome 1 |
|
Short phalanx of finger, Short tibia, Micrognathia, Metaphyseal rarefaction, Elbow flexion contra... |
OMIM:601559 |
Paget Disease Of Bone 2, Early-Onset |
|
Increased susceptibility to fractures, Bowing of the long bones, Short femur, Elevated circulatin... |
OMIM:602080 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Hyperlordosis, Splenomegaly, Hyperinsulinemia, Flexion contracture, Spinal rigidity, Accelerated ... |
OMIM:613327 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia, Pancytopenia |
OMIM:613839 |
Axial Spondylometaphyseal Dysplasia |
|
Thoracic hypoplasia, Flattened femoral head, Aplasia/Hypoplasia of the vertebrae, Narrow greater ... |
ORPHA:168549 |
Weismann-Netter Syndrome |
|
Anemia, Kyphosis, Abnormality of the humerus, Tibial bowing, Abnormal cortical bone morphology, F... |
ORPHA:3344 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Broad foot, Hypoplastic sacrum, Enlargement of the costochondral junction, Genu valgum, Metaphyse... |
OMIM:271650 |
Refractory Anemia With Excess Blasts |
|
Acute myeloid leukemia, Retinal hemorrhage, Pedal edema, Abnormal mean corpuscular volume, Palpit... |
ORPHA:86839 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Shortening of the talar neck, Trapezoidal distal femoral condyles, Genu valgum, Metaphyseal irreg... |
OMIM:307800 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
2-3 toe syndactyly, Vertebral fusion, Butterfly vertebrae, Thoracic kyphoscoliosis, Mitral regurg... |
ORPHA:313892 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6 |
|
Knee flexion contracture, 2-3 toe syndactyly, Hip contracture, Toe syndactyly, Hip dysplasia, Elb... |
OMIM:616809 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Right bundle branch block, Cardiac arrest, Paroxysmal supraventricular tachycardia, Congestive he... |
OMIM:616117 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Dominant Beta-Thalassemia |
|
Genu valgum, Hypersplenism, Reduced hemoglobin A, Decreased mean corpuscular hemoglobin concentra... |
ORPHA:231226 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Thin bony cortex, Metaphyseal irregularity, Enlargement of the costochondral junction, Bulging of... |
OMIM:264700 |
Atrial Septal Defect 6 |
|
Bradycardia, Atrial fibrillation |
OMIM:613087 |
X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Bradycardia |
ORPHA:2898 |
Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures |
|
Low alkaline phosphatase, Brachydactyly |
OMIM:618879 |
Familial Short Qt Syndrome |
|
Sudden cardiac death, Ventricular arrhythmia, Syncope, Ventricular fibrillation, Palpitations, At... |
ORPHA:51083 |
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Bradycardia, Sick sinus syndrome |
OMIM:617182 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Elevated circulating alkaline phosphatase concentration, Elevated hepatic transaminase, Decreased... |
OMIM:616829 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Short phalanx of finger, Coxa valga, Abnormality of alkaline phosphatase level, Flared iliac wing... |
OMIM:300106 |
X-Linked Hypophosphatemia |
|
Abnormal lower-limb metaphysis morphology, Flared iliac wing, Rachitic rosary, Sacroiliac joint s... |
ORPHA:89936 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Absent phalangeal crease, Flexion contracture, Fused cervical vertebrae, Antecubital pterygium, S... |
OMIM:618469 |
16Q24.3 Microdeletion Syndrome |
|
Kyphosis, Micrognathia, Hip dysplasia, Dilated cardiomyopathy, Mitral regurgitation, Proximal pla... |
ORPHA:261250 |
Bile Acid Conjugation Defect 1 |
|
Elevated circulating alanine aminotransferase concentration, Hepatic failure, Jaundice, Elevated ... |
OMIM:619232 |
Orofaciodigital Syndrome Type 10 |
|
Short tibia, Short toe, Mesomelic leg shortening, Micrognathia, Metatarsal synostosis, Oligodacty... |
ORPHA:2756 |
Progressive Familial Heart Block, Type Ib |
|
Right bundle branch block, Syncope, Shortened PR interval, Prolonged QT interval, Left anterior f... |
OMIM:604559 |
Craniometadiaphyseal Dysplasia |
|
Genu varum, Genu valgum, Coxa valga, Broad ribs, Elevated circulating alkaline phosphatase concen... |
OMIM:269300 |
Trimethylaminuria |
|
Anemia, Hypertension, Tachycardia, Neutropenia, Splenomegaly |
OMIM:602079 |
Pseudoachondroplasia |
|
Short phalanx of finger, Atlantoaxial dislocation, Irregular carpal bones, Limited elbow extensio... |
OMIM:177170 |
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
|
Thoracic hemivertebrae, Fused cervical vertebrae, Scoliosis, Prominent metopic ridge, Short middl... |
OMIM:309620 |
Diastrophic Dysplasia |
|
Camptodactyly of finger, Micrognathia, Increased bone mineral density, Elbow dislocation, Hypopla... |
ORPHA:628 |
Beta-Thalassemia Major |
|
Genu valgum, Hypersplenism, Reduced hemoglobin A, Anisopoikilocytosis, Decreased mean corpuscular... |
ORPHA:231214 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Leukopenia, Anemia, Lymphopenia, Increased mean corpuscular volume, Thrombocytopenia, Aplastic an... |
OMIM:127550 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Bell-shaped thorax, Vertebral fusion, Short thorax, Block vertebrae, Vertebral segmentation defec... |
OMIM:613686 |
Atelosteogenesis, Type I |
|
Thoracic hypoplasia, Vertebral hypoplasia, Micrognathia, Distal tapering femur, Short femur, Elbo... |
OMIM:108720 |
Timothy Syndrome |
|
Syndactyly, Prolonged QT interval, Hypoglycemia, Bradycardia, Cutaneous syndactyly |
OMIM:601005 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Beaking of vertebral bodies, Narrow greater sciatic notch, Mesomelic arm shortening, Lumbar hyper... |
OMIM:609616 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Hypertrophic cardiomyopathy, Bradycardia |
OMIM:616277 |
Aminoacylase 1 Deficiency |
|
Bradycardia |
OMIM:609924 |
Kbg Syndrome |
|
Vertebral fusion, Thoracic kyphosis, Cervical ribs, Short neck, Delayed skeletal maturation, Scol... |
ORPHA:2332 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Syncope, Congestive heart failure, Asymmetric septal hypertrophy,... |
OMIM:600858 |
Acheiropody |
|
Short tibia, Aplasia of the phalanges of the hand, Absent toe, Aplasia of metacarpal bones, Aplas... |
OMIM:200500 |
Acitretin/Etretinate Embryopathy |
|
Third degree atrioventricular block, Hypoplasia of the thymus, Abnormality of the calcaneus, Micr... |
ORPHA:40366 |
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis |
|
Posterior fusion of lumbosacral vertebrae |
OMIM:192800 |
Tibial Hemimelia |
|
Short tibia, Polydactyly, Coxa valga, Hip dislocation, Metatarsus adductus, Aplasia of the 2nd me... |
ORPHA:93322 |
Atrial Fibrillation, Familial, 10 |
|
Permanent atrial fibrillation, Tricuspid regurgitation, Atrial flutter, Bradycardia, Paroxysmal a... |
OMIM:614022 |
Sudden Cardiac Failure, Infantile |
|
Sudden cardiac death, Congestive heart failure, Hypertrophic cardiomyopathy, Myocarditis, Bradyca... |
OMIM:617222 |
Vitamin D-Dependent Rickets, Type 2A |
|
Thin bony cortex, Metaphyseal irregularity, Bulging of the costochondral junction, Recurrent frac... |
OMIM:277440 |
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
|
Sacral dimple, Posterior fusion of lumbosacral vertebrae, Joint stiffness, Tarsal synostosis, Abn... |
ORPHA:2064 |
Hypophosphatemic Rickets, Autosomal Recessive, 2 |
|
Genu varum, Genu valgum, Coxa valga, Elevated circulating alkaline phosphatase concentration, Hyp... |
OMIM:613312 |
Osteogenesis Imperfecta, Type Ix |
|
Dentinogenesis imperfecta, Bowing of limbs due to multiple fractures, Recurrent fractures, Kyphos... |
OMIM:259440 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Delayed cranial suture closure, Micrognathia, Pectus excavatum, Dislocated radial head, Radial de... |
OMIM:268310 |
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Global systolic dysfunction, Fusion of midcervical facet joints, Widening of cervical spinal cana... |
OMIM:606842 |
Ring Chromosome 21 Syndrome |
|
Small hand, Thoracic hemivertebrae, Abnormal thorax morphology, Clinodactyly, Syndactyly, Scolios... |
ORPHA:1445 |
Slc35A2-Cdg |
|
Short tibia, Camptodactyly of finger, Hip subluxation, Coxa valga, Abnormal long bone morphology,... |
ORPHA:356961 |
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Short toe, Bifid distal phalanx of the thumb, Curved distal phalanx of the thumb, Triangular shap... |
ORPHA:370010 |
Multiple Pterygium Syndrome, X-Linked |
|
Increased susceptibility to fractures, Vertebral fusion, Flexion contracture, Joint dislocation, ... |
OMIM:312150 |
Blackfan-Diamond Anemia |
|
Triphalangeal thumb, Acute myeloid leukemia, Leukopenia, Absent thumb, Reticulocytopenia, Short t... |
ORPHA:124 |
Developmental And Epileptic Encephalopathy 101 |
|
Limb joint contracture, Third degree atrioventricular block, Bradycardia |
OMIM:619814 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Metaphyseal irregularity, Metaphyseal cupping, Coxa vara, Rhizomelia, Short metacarpal, Severe pl... |
OMIM:608940 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Absent ossification of capital femoral epiphysis, Abnormal epiphysis morphology, Bradycardia, Umb... |
ORPHA:226313 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Omphalocele, Rhizomelia, Narrow chest, Micrognathia, Abnormal clavicle morphology, Short neck, Pr... |
ORPHA:93267 |
Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Hypotension, Cardiac arrest, Neonatal hypoglycemia, Premature ventricular contraction, Hypoglycem... |
OMIM:212138 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Short tibia, Flexion contracture, Thoracic hypoplasia, Coxa valga, Micrognathia, Epiphyseal stipp... |
ORPHA:96334 |
Long Qt Syndrome 8 |
|
Sudden cardiac death, Syncope, Ventricular fibrillation, Syndactyly, Aborted sudden cardiac death... |
OMIM:618447 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
|
11 pairs of ribs, Short tibia, Triphalangeal thumb, Micrognathia, Clinodactyly, Oligodactyly, Ove... |
OMIM:201170 |
Spondylocarpotarsal Synostosis Syndrome |
|
Short neck, Delayed skeletal maturation, Limited elbow extension, Scapular winging, Talipes equin... |
OMIM:272460 |
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Bradycardia, Atrial fibrillation |
OMIM:614302 |
Dyggve-Melchior-Clausen Disease |
|
Broad foot, Camptodactyly, Short neck, Flat glenoid fossa, Beaking of vertebral bodies, Narrow gr... |
OMIM:223800 |
Glutamine Deficiency, Congenital |
|
Camptodactyly, Flexion contracture, Bradycardia, Micromelia |
OMIM:610015 |
Myeloproliferative Disease, Autosomal Recessive |
|
Reduced leukocyte alkaline phosphatase |
OMIM:254700 |
Spondylometaphyseal Dysplasia, Axial |
|
Anterior rib cupping, Thoracic hypoplasia, Coxa vara, Rhizomelia, Short femoral neck, Proximal fe... |
OMIM:602271 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Hyperlordosis, Vertebral fusion, Kyphosis, Calf muscle hypertrophy, Achilles tendon contracture, ... |
OMIM:607155 |
Hypophosphatasia, Infantile |
|
Vertebral clefting, Low alkaline phosphatase, Increased susceptibility to fractures, Metaphyseal ... |
OMIM:241500 |
Long Qt Syndrome 9 |
|
Cardiac arrest, Ventricular arrhythmia, Syncope, Prolonged QT interval, Abnormal U wave, Sinus br... |
OMIM:611818 |
Osteogenesis Imperfecta, Type Ii |
|
Crumpled long bones, Bell-shaped thorax, Thoracic hypoplasia, Pulmonary insufficiency, Recurrent ... |
OMIM:166210 |
Heart Defects-Limb Shortening Syndrome |
|
Mesomelic/rhizomelic limb shortening, Kyphosis, Accelerated skeletal maturation, Narrow chest, Ab... |
ORPHA:1354 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Osteopetrosis, Autosomal Recessive 1 |
|
Femur fracture, Osteomyelitis, Coxa vara, Calvarial osteosclerosis, Increased bone mineral densit... |
OMIM:259700 |
Jeune Syndrome |
|
Abnormal sternum morphology, Short thorax, Narrow chest, Toe syndactyly, Abnormal pelvic girdle b... |
ORPHA:474 |
Microcephaly-Micromelia Syndrome |
|
Short tibia, Absent thumb, Humeroradial synostosis, Micrognathia, Missing ribs, Absent radius, Ol... |
OMIM:251230 |
Verheij Syndrome |
|
Vertebral fusion, Short 5th finger, Clinodactyly, Hip dislocation, Short neck, Scoliosis, Hemiver... |
OMIM:615583 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Inguinal hernia, Micrognathia, Joint contracture, Bradycardia |
OMIM:614498 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Hyperlordosis, Vertebral fusion, Kyphosis, Calf muscle hypertrophy, Achilles tendon contracture, ... |
OMIM:606612 |
Endove Syndrome, Limb-Only Type |
|
Aplasia of the distal phalanges of the toes, Disproportionate shortening of the tibia, Cutaneous ... |
OMIM:619217 |
Atelosteogenesis Type Iii |
|
Short tibia, Thoracic hypoplasia, Patellar dislocation, Short tubular bones of the hand, Vertebra... |
ORPHA:56305 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231393 |
Multiple Pterygium Syndrome, Lethal Type |
|
Increased susceptibility to fractures, Vertebral fusion, Flexion contracture, Joint dislocation, ... |
OMIM:253290 |
Necrotizing Enterocolitis |
|
Hypotension, Abnormal glucose homeostasis, Shock, Leukocytosis, Hyperglycemia, Thrombocytopenia, ... |
ORPHA:391673 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Knee flexion contracture, Abnormal sternum morphology, Genu valgum, Rhizomelia, Fixed elbow flexi... |
ORPHA:166016 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Shoulder dislocation, Hallux valgus, Micrognathia, Hip dislocation, Short neck, Knee dislocation,... |
OMIM:618000 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Anemia, Type II diabetes mellitus, Erythroid hyperplasia, Hepatosplenomegaly, Decreased mean corp... |
OMIM:616860 |
Frontometaphyseal Dysplasia 1 |
|
Camptodactyly of finger, Wrist flexion contracture, Coxa valga, Elbow flexion contracture, Disloc... |
OMIM:305620 |
Infant Acute Respiratory Distress Syndrome |
|
Hypotension, Cardiac arrest, Abnormal thorax morphology, Bradycardia, Tachycardia |
ORPHA:70587 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Grant Syndrome |
|
Joint dislocation, Narrow chest, Micrognathia, Abnormal cortical bone morphology, Abnormality of ... |
ORPHA:2097 |
Hemochromatosis, Type 4 |
|
Anemia, Impaired glucose tolerance, Diabetes mellitus, Arrhythmia, Glucose intolerance, Osteoarth... |
OMIM:606069 |
Glycosylphosphatidylinositol Biosynthesis Defect 25 |
|
Low alkaline phosphatase, Ankle flexion contracture |
OMIM:619985 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Short tibia, Rhizomelia, Short ribs, Hypoplasia of the radius, Butterfly vertebrae, Short femur, ... |
OMIM:607143 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Dysplastic iliac wing, Thoracic hypoplasia, Hypoplastic pubic bone, Short long bone, Lumbar hyper... |
OMIM:608728 |
Renal Glucosuria |
|
Polyphagia, Polydipsia |
OMIM:233100 |
Keratoconus Posticus Circumscriptus |
|
Clinodactyly of the 5th finger, Abnormal vertebral segmentation and fusion, Short neck, Brachydac... |
OMIM:244600 |
Orofaciodigital Syndrome Viii |
|
Short tibia, Polydactyly, Syndactyly |
OMIM:300484 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Irregular sclerotic endplates, Flared, irregular rib ends, Genu varum, Metaphyseal cupping, Pear-... |
OMIM:602111 |
Hemoglobin H Disease |
|
HbH hemoglobin, Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:613978 |
Familial Thyroid Dyshormonogenesis |
|
Delayed cranial suture closure, Delayed proximal femoral epiphyseal ossification, Abnormal epiphy... |
ORPHA:95716 |
Sick Sinus Syndrome 2 |
|
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Syncope, Aortic regurgitation, Atrial f... |
OMIM:163800 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Hyperlordosis, Metaphyseal irregularity, Genu valgum, Anterior rib cupping, Coxa vara, Hypoplasti... |
OMIM:184250 |
Eisenmenger Syndrome |
|
Pedal edema, Ventricular arrhythmia, Supraventricular arrhythmia, Angina pectoris, Palpitations, ... |
ORPHA:97214 |
Cln3 Disease |
|
T-wave inversion, Bradycardia, Vacuolated lymphocytes |
ORPHA:228346 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Kyphosis, Vertebral segmentation defect, Hypoplasia of the odontoid process, Supernumerary verteb... |
OMIM:609813 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Genu varum, Genu valgum, Joint dislocation, Recurrent fractures, Osteomalacia, Coarse metaphyseal... |
ORPHA:93160 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Short tibia, Foot oligodactyly, Hand oligodactyly, Syndactyly, Fibular aplasia, Tibial bowing |
OMIM:246570 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Flared iliac wing, Elbow flexion contracture, Irregular capital femoral epiphysis, Short neck, De... |
OMIM:184252 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Elevated circulating alkaline phosphatase concentration, Jaundice, Elevated circulating alanine a... |
OMIM:619658 |
Chromosome 8Q22.1 Duplication Syndrome |
|
Short phalanx of finger, Hallux valgus, Short metacarpal, Limitation of joint mobility, Joint sti... |
OMIM:151200 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Aplasia/Hypoplasia of the tibia, Omphalocele, Preaxial hand polydactyly, Finger syndactyly, Patel... |
ORPHA:3329 |
Lipoyltransferase 1 Deficiency |
|
Pulmonary arterial hypertension, Bradycardia |
OMIM:616299 |
Type 1 Diabetes Mellitus |
|
Polyphagia, Polydipsia |
OMIM:222100 |
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
|
Short tibia, Hypoplasia of the radius, Pseudoarthrosis |
OMIM:156230 |
Central Diabetes Insipidus |
|
Failure to thrive, Polydipsia, Weight loss |
ORPHA:178029 |
Microphthalmia With Limb Anomalies |
|
Short tibia, Toe syndactyly, Micrognathia, Hip dislocation, Elbow dislocation, Postaxial hand pol... |
ORPHA:1106 |
Short Qt Syndrome 2 |
|
Sudden cardiac death, Syncope, Ventricular fibrillation, Shortened QT interval, Bradycardia, Atri... |
OMIM:609621 |
Neurodevelopmental Disorder With Or Without Hypotonia, Seizures, And Cerebellar Atrophy |
|
Elevated circulating alkaline phosphatase concentration |
OMIM:616917 |
Tako-Tsubo Cardiomyopathy |
|
Hypotension, T-wave inversion, Ventricular arrhythmia, Cardiogenic shock, Mildly reduced left ven... |
ORPHA:66529 |
Caudal Regression Syndrome |
|
Missing ribs, Maternal diabetes, Hypertension, Hypoplastic vertebral bodies, Abnormal pelvic gird... |
ORPHA:3027 |
Cardiomyopathy, Dilated, 1A |
|
Sudden cardiac death, Third degree atrioventricular block, Ventricular arrhythmia, Dilated cardio... |
OMIM:115200 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Metaphyseal irregularity, Irregular vertebral endplates, Tapered finger, Patellar dislocation, Sh... |
OMIM:618395 |
Atrial Standstill 2 |
|
Scarring, Atrial standstill, Atrial cardiomyopathy, Palpitations, Atrial arrhythmia, Absent P wav... |
OMIM:615745 |
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Horizontal ribs, Short ribs, Postaxial foot polydactyly, Postaxial hand polydactyly, Lateral clav... |
OMIM:617405 |
Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Short tibia, Short toe, Short phalanx of finger, Absent toe, Short metacarpal, Finger symphalangi... |
OMIM:612576 |
Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Anemia, Irregular ossification at anterior rib ends, Anterior rib cupping... |
OMIM:260400 |
Achondrogenesis Type 1B |
|
Umbilical hernia, Short thorax, Femoral hernia, Abnormal enchondral ossification, Narrow chest, M... |
ORPHA:93298 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Vertebral fusion, Patellar dislocation, Kyphosis, Clinodactyly of the 5th finger, Vaginal hernia,... |
ORPHA:2916 |
Eiken Syndrome |
|
Broad femoral neck, Pseudoepiphyses, Long hallux, Flat acetabular roof, Delayed ossification of c... |
OMIM:600002 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly, Decreased mean corpuscular volume, Rickets |
OMIM:611590 |
Long Qt Syndrome 5 |
|
Sudden cardiac death, Torsade de pointes, Syncope, Ventricular fibrillation, Prolonged QTc interv... |
OMIM:613695 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he... |
OMIM:603902 |
Sick Sinus Syndrome 4 |
|
Sinoatrial block, Syncope, Abnormal PR interval, Abnormal QRS complex, Chronotropic incompetence,... |
OMIM:619464 |
Mucopolysaccharidosis Type 4 |
|
Coxa valga, Grayish enamel, Short neck, Delayed skeletal maturation, Abnormal rib morphology, Abn... |
ORPHA:582 |
Otopalatodigital Syndrome Type 2 |
|
Camptodactyly of finger, Hypoplastic frontal sinuses, Micrognathia, Flared iliac wing, Increased ... |
ORPHA:90652 |
Progressive Familial Heart Block, Type Ii |
|
Sudden cardiac death, Complete heart block with narrow QRS complexes, Syncope, Atrioventricular b... |
OMIM:140400 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Hypertrophic cardiomyopathy, Hypoglycemia, Bradycardia |
OMIM:614702 |
Cartilage-Hair Hypoplasia |
|
Heart block, Abnormal distal phalanx morphology of finger, Short neck, Delayed skeletal maturatio... |
ORPHA:175 |
Occipital Horn Syndrome |
|
Delayed cranial suture closure, Coxa valga, Large iliac wing, Scarring, Hip dislocation, Abnormal... |
ORPHA:198 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Horizontal ribs, Bell-shaped thorax, Short tibia, Rhizomelia, Short ribs, Short long bone, Flat a... |
OMIM:616300 |
Pseudo-Torch Syndrome 2 |
|
Thrombocytopenia, Bradycardia, Cerebral hemorrhage, Thin ribs |
OMIM:617397 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Cardiomyopathy, Bradycardia, Diabetes mellitus, Arrhythmia |
OMIM:609286 |
Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Abnormal vertebral segmentation and fusion, Sprengel anomaly, Short neck, Scoliosis, Abnormal rib... |
OMIM:118100 |
Wild Type Attr Amyloidosis |
|
Orthostatic hypotension due to autonomic dysfunction, Pedal edema, Abnormal EKG, Congestive heart... |
ORPHA:330001 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Horizontal ribs, Thoracic hypoplasia, Short 4th metacarpal, Camptodactyly, Broad hallux, Limb und... |
OMIM:618019 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Elevated circulating alkaline phosphatase concentration, Bowing of the legs, Rickets, Osteomalacia |
ORPHA:89937 |
Hypophosphatasia |
|
Anemia, Recurrent fractures, Craniosynostosis, Narrow chest, Abnormal metaphysis morphology, Bowi... |
ORPHA:436 |
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Abnormal rib morphology |
ORPHA:2435 |
Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Hemolytic anemia, Abnormal mean corpuscular volume, Decreased mean corpuscular he... |
ORPHA:3203 |
Brugada Syndrome |
|
Supraventricular tachycardia, Right bundle branch block, Trifascicular block, Cardiac arrest, Ven... |
ORPHA:130 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Decreased mean corpuscular volume, Anemia, Hypochromia, Erythroid hyperplasia |
OMIM:206100 |
Proximal Spinal Muscular Atrophy |
|
Knee flexion contracture, Flexion contracture, Multiple joint contractures, Thoracic kyphosis, El... |
ORPHA:70 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Horizontal ribs, Disproportionate shortening of the tibia, Preaxial hand polydactyly, Short ribs,... |
OMIM:263520 |
Romano-Ward Syndrome |
|
Sudden cardiac death, Torsade de pointes, Abnormal T-wave, Ventricular arrhythmia, Syncope, Prolo... |
ORPHA:101016 |
Atrial Fibrillation, Familial, 7 |
|
Permanent atrial fibrillation, Premature atrial contractions, Palpitations, Prolonged PR interval... |
OMIM:612240 |
Oncogenic Osteomalacia |
|
Increased susceptibility to fractures, Abnormality of the tarsal bones, Abnormal vertebral morpho... |
ORPHA:352540 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Dyschondrosteosis And Nephritis |
|
Short tibia, Short forearm, Radial bowing, Ulnar bowing, Madelung deformity |
OMIM:127350 |
Orofaciodigital Syndrome Iv |
|
Short tibia, Toe syndactyly, Micrognathia, Foot polydactyly, Short finger, Hand polydactyly, Clin... |
OMIM:258860 |
Beta-Thalassemia |
|
Anemia, Hypertrophic cardiomyopathy, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly, Microcy... |
ORPHA:848 |
Coenzyme Q10 Deficiency, Primary, 5 |
|
Bradycardia |
OMIM:614654 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Short phalanx of finger, Toe syndactyly, Micrognathia, Flared iliac wing, Aplasia/hypoplasia of t... |
OMIM:609945 |
Spondylometaphyseal Dysplasia, A4 Type |
|
Flared, irregular rib ends, Coxa vara, Limitation of joint mobility, Platyspondyly, Micromelia, S... |
ORPHA:168555 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Elevated alkaline phosphatase of bone origin, Thin bony cortex, Increased susceptibility to fract... |
ORPHA:289157 |
Acromesomelic Dysplasia 4 |
|
Short phalanx of finger, Beaking of vertebral bodies, Thoracic platyspondyly, Lumbar hyperlordosi... |
OMIM:619636 |
Illum Syndrome |
|
Bradycardia, Arthrogryposis multiplex congenita |
OMIM:208155 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Neck pterygia, Flexion contracture, Multiple joint contractures, Anterior clefting of vertebral b... |
OMIM:265000 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Fused cervical vertebrae, Short neck, Scoliosis, Sprengel anomaly, Cervical C2/C3 vertebral fusion |
OMIM:214300 |
Melnick-Needles Syndrome |
|
Osteolytic defects of the phalanges of the hand, Delayed cranial suture closure, Short thorax, Co... |
ORPHA:2484 |
Thrombocytopenia-Absent Radius Syndrome |
|
Short phalanx of finger, Absent thumb, Coxa valga, Patellar dislocation, Micrognathia, Hip disloc... |
OMIM:274000 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Increased susceptibility to fractures, Hyperlordosis, Abnormal long bone morphology, Elevated cir... |
ORPHA:52430 |
Achondrogenesis Type 1A |
|
Umbilical hernia, Short thorax, Short foot, Recurrent fractures, Abnormal enchondral ossification... |
ORPHA:93299 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Omphalocele, Abnormally ossified vertebrae, Micrognathia, Radial bowing, Lower limb undergrowth, ... |
ORPHA:3035 |
Immunodeficiency 96 |
|
Increased mean corpuscular volume, Conjunctival telangiectasia, Increased proportion of gamma-del... |
OMIM:619774 |
Gorlin Syndrome |
|
Vertebral fusion, Arachnodactyly, Plantar pits, Vertebral wedging, Scoliosis, Brachydactyly, Hemi... |
ORPHA:377 |
Larsen Syndrome |
|
Spatulate thumbs, Hip dislocation, Pectus excavatum, Talipes equinovalgus, Elbow dislocation, Bip... |
OMIM:150250 |
Osteogenesis Imperfecta, Type Iii |
|
Pulmonary arterial hypertension, Protrusio acetabuli, Dentinogenesis imperfecta, Bowing of limbs ... |
OMIM:259420 |
Klippel-Feil Syndrome 3, Autosomal Dominant |
|
Thoracic scoliosis, Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion |
OMIM:613702 |
Dyggve-Melchior-Clausen Disease |
|
Hypoplastic acetabulae, Short neck, Limited elbow extension, Beaking of vertebral bodies, Abnorma... |
ORPHA:239 |
Kenny-Caffey Syndrome, Type 1 |
|
Anemia, Delayed closure of the anterior fontanelle, Thin clavicles, Short foot, Small hand, Calva... |
OMIM:244460 |
Gorham-Stout Disease |
|
Elevated alkaline phosphatase of bone origin, Osteomyelitis, Abnormal bone ossification, Abnormal... |
ORPHA:73 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Dumbbell-shaped long bone, Thoracic hypoplasia, Severe platyspondyly, Limb undergrowth, Short nec... |
OMIM:151210 |
Sick Sinus Syndrome 1 |
|
Ventricular escape rhythm, Prolonged QT interval, Atrioventricular block, Absent P wave, Sick sin... |
OMIM:608567 |
Simpson-Golabi-Behmel Syndrome |
|
Camptodactyly of finger, Broad foot, Toe syndactyly, Pectus excavatum, Hypoglycemia, Short neck, ... |
ORPHA:373 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Sudden cardiac death, Effort-induced polymorphic ventricular tachycardia, Syncope, Atrial standst... |
OMIM:604772 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Hypertrophic cardiomyopathy, Thrombocytopenia, Bradycardia, Normoch... |
OMIM:618775 |
Cardiac Arrhythmia, Ankyrin-B-Related |
|
Sudden cardiac death, Syncope, Prolonged QT interval, Atrial fibrillation, Sinus bradycardia |
OMIM:600919 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hypoketotic hypoglycemia, Hyperinsulinemia, Ketotic hypoglycemia, Syncope, Maternal diabetes, Hyp... |
ORPHA:324575 |
Basal Cell Nevus Syndrome 1 |
|
Bifid ribs, Polydactyly, Abnormal sternum morphology, Vertebral fusion, Short 4th metacarpal, Pla... |
OMIM:109400 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Ankle clonus, Congenital foot contractures, Neonatal hypoglycemia, Prominent calcaneus, Scoliosis... |
ORPHA:565624 |
Poland Syndrome |
|
Spina bifida occulta, Short neck, Abnormal rib morphology, Absent hand, Reduced bone mineral dens... |
ORPHA:2911 |
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Broad foot, Flat glenoid fossa, Short palm, Lumbar hyperlordosis, Genu valgum, Metaphyseal irregu... |
OMIM:250420 |
Alkaptonuria |
|
Vertebral fusion, Kyphosis, Arthropathy, Arthritis, Limited hip movement, Limited shoulder moveme... |
OMIM:203500 |
Craniodiaphyseal Dysplasia |
|
Abnormal rib morphology, Craniofacial hyperostosis, Diaphyseal thickening |
ORPHA:1513 |
Osteogenesis Imperfecta, Type X |
|
Thin bony cortex, Thoracic hypoplasia, Micrognathia, Short femur, Fibular bowing, Dentinogenesis ... |
OMIM:613848 |
Incessant Infant Ventricular Tachycardia |
|
Supraventricular tachycardia, Histiocytoid cardiomyopathy, Cardiac arrest, Wolff-Parkinson-White ... |
ORPHA:45453 |
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Thoracolumbar scoliosis, Flexion contracture, Micrognathia, Acetabular dysplasia, Short neck, Cer... |
OMIM:616549 |
Fibrochondrogenesis 1 |
|
Dumbbell-shaped long bone, Thoracic hypoplasia, Camptodactyly, Short neck, Widely patent coronal ... |
OMIM:228520 |
Abnormal Hair, Joint Laxity, And Developmental Delay |
|
2-3 toe syndactyly, Clinodactyly of the 4th toe, Lower limb pain, Increased carrying angle, Clino... |
OMIM:261990 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Vertebral fusion, Supernumerary vertebrae, Short ribs, Block vertebrae, Missing ribs, Inguinal he... |
OMIM:271520 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Thin bony cortex, Metaphyseal irregularity, Recurrent fractures, Bulging epiphyses, Osteomalacia,... |
OMIM:300554 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short phalanx of finger, Flared iliac wing, Irregular tarsal bones, Short neck, Narrow greater sc... |
OMIM:250220 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Hyperglycemia, Abnormality of the cervical spine, Glucose intolerance, Superior rib anomalies |
OMIM:307500 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Ventricular escape rhythm, Arrhythmia, Prolonged PR interval, Bradycardia, Sick sinus syndrome |
ORPHA:542306 |
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Triphalangeal thumb, Short tibia, Absent tibia, Preaxial polydactyly, Fibular duplication |
OMIM:188740 |
Tetanus |
|
Tachycardia, Stiff neck, Bradycardia, Hypertension |
ORPHA:3299 |
Cardiomyopathy, Dilated, 1D |
|
Sudden cardiac death, Reduced left ventricular ejection fraction, Congestive heart failure, Dilat... |
OMIM:601494 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia |
ORPHA:231242 |
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis |
|
Osteomyelitis, Fused cervical vertebrae, Neutrophilia, Osteolysis, Periostitis, Osteopenia, Joint... |
OMIM:612852 |
Omodysplasia 1 |
|
Short tibia, Limited elbow flexion, Limited knee flexion/extension, Anterolateral radial head dis... |
OMIM:258315 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Horizontal ribs, Thoracic hypoplasia, Cone-shaped epiphysis, Postaxial polydactyly, Short ribs, S... |
OMIM:613091 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Rhizomelic arm shortening, Iliac crest serration, Cone-shaped epiphysis, Short metacarpal, Narrow... |
ORPHA:93317 |
Hypophosphatemic Bone Disease |
|
Rickets, Bowing of the legs, Osteomalacia |
OMIM:146350 |
Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
Frontometaphyseal Dysplasia |
|
Short diaphyses, Camptodactyly of finger, Short phalanx of finger, Wrist flexion contracture, Mic... |
ORPHA:1826 |
Mucopolysaccharidosis, Type Ivb |
|
Pointed proximal second through fifth metacarpals, Coxa valga, Grayish enamel, Constricted iliac ... |
OMIM:253010 |
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Broad foot, Flexion contracture, Flared iliac wing, Short neck, Flattened epiphysis, Delayed skel... |
OMIM:300232 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Knee flexion contracture, Metaphyseal cupping, Hip contracture, Short ribs, Short long bone, Clin... |
OMIM:156400 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hypoketotic hypoglycemia, Hyperinsulinemia, Syncope, Maternal diabetes, Type I diabetes mellitus,... |
ORPHA:276580 |
Fibrous Dysplasia Of Bone |
|
Thin bony cortex, Coxa vara, Abnormality of femur morphology, Osteomalacia, Abnormality of the hu... |
ORPHA:249 |
Mucopolysaccharidosis, Type Iva |
|
Pointed proximal second through fifth metacarpals, Coxa valga, Grayish enamel, Lumbar kyphosis, C... |
OMIM:253000 |
Becker Nevus Syndrome |
|
Kyphosis, Supernumerary ribs, Pectus excavatum, Spina bifida occulta, Abnormality of tibia morpho... |
ORPHA:64755 |
Autosomal Dominant Spondylocostal Dysostosis |
|
Hyperlordosis, Short thorax, Vertebral segmentation defect, Missing ribs, Posterior rib fusion, A... |
ORPHA:1797 |
Aapoaiv Amyloidosis |
|
Left ventricular outflow tract obstruction, Back pain, Abnormal cardiac ventricular function, Hyp... |
ORPHA:439232 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Elevated circulating alkaline phosphatase concentration |
OMIM:174050 |
Combined Oxidative Phosphorylation Deficiency 39 |
|
Ankle clonus, Flexion contracture, Type I diabetes mellitus, Scoliosis, Joint contracture, Arthro... |
OMIM:618397 |
Metaphyseal Acroscyphodysplasia |
|
Short phalanx of finger, Coxa valga, Narrow pelvis bone, Short humerus, Short palm, Short toe, Ac... |
OMIM:250215 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Elevated alkaline phosphatase of bone origin, Abnormal pelvic girdle bone morphology, Paget disea... |
OMIM:167320 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Hepatic failure, Jaundice, Elevated hepatic transaminase, Abnormal circulating enzyme concentrati... |
ORPHA:79303 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Increased mean corpuscular volume, Megaloblastic anemia |
OMIM:277410 |
Greenberg Dysplasia |
|
Short phalanx of finger, Absent or minimally ossified vertebral bodies, Thoracic hypoplasia, Micr... |
OMIM:215140 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Horizontal ribs, Short tibia, Hypoplastic pubic bone, Short ribs, Short long bone, Micrognathia, ... |
OMIM:617925 |
Acro-Renal-Mandibular Syndrome |
|
Pectus carinatum, Finger syndactyly, Kyphosis, Hypoplasia of the radius, Micrognathia, Hip disloc... |
ORPHA:958 |
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Short distal phalanx of finger, Short distal phalanx of toe, Bilateral triphalangeal thumbs, Abno... |
OMIM:619356 |
Osteogenesis Imperfecta, Type Viii |
|
Femoral retroversion, Multiple prenatal fractures, Dentinogenesis imperfecta, Recurrent fractures... |
OMIM:610915 |
Delta-Beta-Thalassemia |
|
Anemia, Abnormal hemoglobin, Microcytic anemia |
ORPHA:231237 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Flexion contracture, Thoracic hypoplasia, Fractured radius, Short ribs, Multiple rib fractures, M... |
OMIM:616897 |
Amyotrophic Lateral Sclerosis 20 |
|
Elevated circulating alkaline phosphatase concentration |
OMIM:615426 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Recurrent fractures, Kyphosis, Increased bone mineral density, Short humerus, Ankylosis, Elevated... |
OMIM:239000 |
Dysosteosclerosis |
|
Short diaphyses, Delayed closure of the anterior fontanelle, Micrognathia, Sclerotic scapulae, Hy... |
OMIM:224300 |
Cartilage-Hair Hypoplasia |
|
Limited elbow extension, Short palm, Lumbar hyperlordosis, Narrow vertebral interpedicular distan... |
OMIM:250250 |
Senior-Loken Syndrome 4 |
|
Polydipsia |
OMIM:606996 |
Boudin-Mortier Syndrome |
|
Elevated alkaline phosphatase of bone origin, Mallet finger, Pseudoepiphysis of the 1st metacarpa... |
OMIM:619543 |
Schneckenbecken Dysplasia |
|
Dumbbell-shaped long bone, Thoracic hypoplasia, Advanced ossification of carpal bones, Lateral cl... |
OMIM:269250 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Enamel hypoplasia, Delayed skeletal maturation, Brachydactyly, Abnormal rib morphology, Abnormal ... |
ORPHA:2643 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Hypotension, T-wave inversion, ST segment depression, Congestive heart failure, Neonatal hypoglyc... |
OMIM:261740 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Metatarsus valgus, Kyphosis, Toe syndactyly, Micrognathia, Aplasia/Hypoplasia of toe, Aplasia/Hyp... |
ORPHA:3082 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Elevated alkaline phosphatase of bone origin, Osteomalacia, Bowing of the legs, Rachitic rosary, ... |
ORPHA:157215 |
Dermatosparaxis Ehlers-Danlos Syndrome |
|
Joint dislocation, Coxa valga, Avascular necrosis of the capital femoral epiphysis, Coxa vara, Os... |
ORPHA:1901 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Polymorphic ventricular tachycardia, Cardiac arrest, Syncope, Paroxysmal ventricular tachycardia,... |
OMIM:614021 |
Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Elevated circulating alkaline phosphatase concentration, Elevated gamma-glutamyltransferase level... |
OMIM:619484 |
3M Syndrome |
|
Horizontal ribs, Enlarged thorax, Short neck, Delayed skeletal maturation, Abnormal metaphysis mo... |
ORPHA:2616 |
Lateral Meningocele Syndrome |
|
Vertebral fusion, Biconcave vertebral bodies, Kyphosis, Keloids, Micrognathia, Joint hypermobilit... |
OMIM:130720 |
Cholestasis-Lymphedema Syndrome |
|
Elevated circulating alkaline phosphatase concentration, Jaundice, Elevated hepatic transaminase |
OMIM:214900 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Short phalanx of finger, Shoulder dislocation, Camptodactyly of finger, Flexion contracture, Devi... |
OMIM:143095 |
Fibrochondrogenesis 2 |
|
Bell-shaped thorax, Metaphyseal cupping, Thoracic hypoplasia, Hypoplastic pubic bone, Hypoplastic... |
OMIM:614524 |
Orofaciodigital Syndrome Ix |
|
Short tibia, Hand polydactyly, Camptodactyly, Toe syndactyly |
OMIM:258865 |
Achondrogenesis, Type Ia |
|
Unossified vertebral bodies, Abnormal hand bone ossification, Short neck, Talipes equinovarus, Be... |
OMIM:200600 |
Laurin-Sandrow Syndrome |
|
Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Preaxial hand polydactyly, Limb duplication... |
ORPHA:2378 |
Osteogenesis Imperfecta, Type Xvi |
|
Rhizomelia, Recurrent fractures, Short long bone, Multiple rib fractures, Microretrognathia, Join... |
OMIM:616229 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Anemia, Poikilocytosis, Decreased mean corpuscular volume, Hypochromia, Splenomegaly |
OMIM:615234 |
Juberg-Hayward Syndrome |
|
Abnormality of the elbow, Abnormal finger morphology, Toe syndactyly, Hypoplasia of the radius, A... |
ORPHA:2319 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Genu varum, Metaphyseal irregularity, Pear-shaped vertebrae, Short lower limbs, Tibial bowing, Fe... |
ORPHA:93356 |
Gollop-Wolfgang Complex |
|
Aplasia/Hypoplasia of the tibia, Hand monodactyly, Bifid femur, Ectrodactyly, Aplasia/Hypoplasia ... |
ORPHA:1986 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Recurrent fractures, Abnormality of the elbow, Micrognathia, Slender long bone, Abnormal cortical... |
ORPHA:1486 |
Asymmetric Short Stature Syndrome |
|
Micrognathia, Lumbar scoliosis, Hemihypotrophy of lower limb, Fused cervical vertebrae |
OMIM:108450 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Short tibia, Short phalanx of finger, Hip subluxation, Short 5th finger, Micrognathia, Hip disloc... |
OMIM:268305 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Short toe, Flexion contracture, Micrognathia, HbH hemoglobin, Short neck, Microcytic anemia, Pect... |
ORPHA:98791 |
Bardet-Biedl Syndrome 9 |
|
Obesity, Polyphagia, Polydipsia, Truncal obesity |
OMIM:615986 |
Peripartum Cardiomyopathy |
|
Pedal edema, Sinus tachycardia, Cardiogenic shock, Palpitations, Elevated jugular venous pressure... |
ORPHA:563 |
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta |
|
Increased susceptibility to fractures, Epiphyseal streaking, Dentinogenesis imperfecta, Delayed c... |
OMIM:604922 |
Osteogenesis Imperfecta, Type Xviii |
|
Thin bony cortex, Biconcave vertebral bodies, Recurrent fractures, Micrognathia, Joint laxity, Fe... |
OMIM:617952 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Micrognathia, Pectus excavatum, Overlapping toe, Short neck, Postaxial hand polydactyly, Beaking ... |
OMIM:213980 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
11 pairs of ribs, Hypoplastic iliac wing, Metaphyseal cupping, Rhizomelia, Distal shortening of l... |
OMIM:300863 |
Cardiomyopathy, Dilated, 2G |
|
Right bundle branch block, Cerebral hemorrhage, Severely reduced left ventricular ejection fracti... |
OMIM:619897 |
Sepsis In Premature Infants |
|
Hypotension, Anemia, Tachycardia, Leukocytosis, Thrombocytopenia, Neutropenia, Bradycardia, Splen... |
ORPHA:90051 |
Cenani-Lenz Syndrome |
|
Foot oligodactyly, Finger syndactyly, Toe syndactyly, Hypoplasia of the radius, Synostosis of car... |
ORPHA:3258 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Elevated alkaline phosphatase of bone origin, Genu varum, Coxa vara, Rickets of the lower limbs, ... |
ORPHA:289176 |
Acquired Methemoglobinemia |
|
Syncope, Palpitations, Arrhythmia, Methemoglobinemia, Tachycardia |
ORPHA:464453 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Hip subluxation, Flexion contracture, Coxa valga, Hallux valgus, Advanced ossification of carpal ... |
OMIM:271640 |
Laurin-Sandrow Syndrome |
|
Triphalangeal thumb, Broad foot, Patellar aplasia, Absent tibia, Hand polydactyly, Syndactyly, Ab... |
OMIM:135750 |
Kniest Dysplasia |
|
Dumbbell-shaped long bone, Hip dislocation, Pectus excavatum, Short neck, Enlarged joints, Flatte... |
OMIM:156550 |
Mucopolysaccharidosis, Type Vi |
|
Hypoplastic acetabulae, Flexion contracture, Sinus tachycardia, Flared iliac wing, Anterior wedgi... |
OMIM:253200 |
Thoracolaryngopelvic Dysplasia |
|
Horizontal ribs, Bell-shaped thorax, Hypoplastic iliac wing, Irregular vertebral endplates, Irreg... |
OMIM:187760 |
Mosaic Trisomy 14 |
|
Camptodactyly of finger, Narrow chest, Micrognathia, Short neck, Abnormal rib morphology, Lower l... |
ORPHA:1703 |
Cantú Syndrome |
|
Umbilical hernia, Coxa valga, Finger syndactyly, Cuboid-shaped vertebral bodies, Accelerated skel... |
ORPHA:1517 |
Cyanosis, Transient Neonatal |
|
Methemoglobinemia, Anemia, Reticulocytosis |
OMIM:613977 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Camptodactyly of finger, Short thorax, Finger syndactyly, Kyphosis, Vertebral segmentation defect... |
ORPHA:2311 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Hepatic failure, Jaundice, Elevated hepatic transaminase, Intrahepatic cholestasis, Elevated circ... |
OMIM:235555 |
Disorder Of Bile Acid Synthesis |
|
Rickets, Elevated hepatic transaminase |
ORPHA:79168 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Kyphosis, Vertebral segmentation defect, Hip dislocation, Pectus excavatum, Joi... |
ORPHA:96169 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Toe syndactyly, Aplasia/hypoplasia of the femur, Postaxial hand polydactyly, Talipes equinovarus,... |
OMIM:228930 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Pulmonary arterial hypertension, Inguinal hernia, Bradycardia |
OMIM:619272 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Horizontal ribs, Bell-shaped thorax, Short long bone, Thoracic dysplasia, Lateral clavicle hook, ... |
OMIM:615633 |
Ivic Syndrome |
|
Triphalangeal thumb, Preaxial hand polydactyly, Aplastic clavicle, Hypoplasia of the radius, Shor... |
ORPHA:2307 |
Hb Bart'S Hydrops Fetalis |
|
Anemia, Congestive heart failure, Pericarditis, Abnormal hemoglobin, Splenomegaly |
ORPHA:163596 |
Lujo Hemorrhagic Fever |
|
Hypotension, Leukopenia, Myocarditis, Stiff neck, Lymphopenia, Shock, Leukocytosis, Thrombocytope... |
ORPHA:319213 |
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Elevated circulating alkaline phosphatase concentration, Osteoporosis, Osteopenia |
ORPHA:529665 |
Hyperparathyroidism, Transient Neonatal |
|
Recurrent fractures, Undulate ribs, Short ribs, Short long bone, Short femur, Elevated circulatin... |
OMIM:618188 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Micrognathia, Camptodactyly, Butterfly vertebrae, Posterior rib gap, Short neck, Thrombocytopenia... |
OMIM:611209 |
Kyphomelic Dysplasia |
|
Thoracic hypoplasia, Micrognathia, Short femur, Lateral clavicle hook, Talipes equinovarus, Ptery... |
OMIM:211350 |
Alpha-Thalassemia |
|
Anemia, Hemolytic anemia, Hypersplenism, Abnormal hemoglobin, Splenomegaly, Microcytic anemia |
ORPHA:846 |
Acro-Renal-Ocular Syndrome |
|
Triphalangeal thumb, Vertebral fusion, Radial club hand, Preaxial hand polydactyly, Finger syndac... |
ORPHA:959 |
Cooper-Jabs Syndrome |
|
Camptodactyly of finger, Missing ribs, Congenital diaphragmatic hernia, Proximal placement of thu... |
ORPHA:1488 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Delayed cranial suture closure, Thin clavicles, Small hand, Calvarial osteosclerosis, Stenosis of... |
ORPHA:93324 |
Ophthalmomandibulomelic Dysplasia |
|
Radioulnar dislocation, Coxa valga, Radial bowing, Abnormal thorax morphology, Lateral humeral co... |
OMIM:164900 |
Multiple Synostoses Syndrome 1 |
|
2-3 toe syndactyly, Pectus excavatum, Dislocated radial head, Short hallux, Radial deviation of f... |
OMIM:186500 |
Nephronophthisis-Like Nephropathy 2 |
|
Polydipsia |
OMIM:619468 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Retinal hemorrhage, Flexion contracture, Limited hip extension, Corneal scarring, Hypertension, B... |
OMIM:614653 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Anemia, Reduced hematocrit, Hemolytic anemia, Circulating nucleated red blood cells, Erythroid hy... |
OMIM:613673 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Narrow pelvis bone, Delayed skeletal maturation, Limited elbow extension, Pseudoepiphyses of the ... |
OMIM:210720 |
Koolen-De Vries Syndrome |
|
Sacral dimple, Vertebral fusion, Kyphosis, Hip dysplasia, Hip dislocation, Positional foot deform... |
OMIM:610443 |
Specific Granule Deficiency 1 |
|
Low neutrophil alkaline phosphatase |
OMIM:245480 |
Kbg Syndrome |
|
Vertebral fusion, Vertebral arch anomaly, Thoracic kyphosis, Clinodactyly of the 5th finger, Cerv... |
OMIM:148050 |
Poland Syndrome |
|
Unilateral oligodactyly, Short ribs, Unilateral brachydactyly, Syndactyly, Rib fusion, Sprengel a... |
OMIM:173800 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia, Splenomegaly, Microcytic anemia |
ORPHA:231401 |
Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Vertebral clefting, Vertebral segmentation defect, Short neck, Rib fusion, Hemivertebrae |
OMIM:608681 |
Polycythemia Vera |
|
Increased red blood cell mass, Cerebral hemorrhage, Cerebral ischemia, Increased hematocrit, Thro... |
OMIM:263300 |
Myhre Syndrome |
|
Hypoplastic iliac wing, 2-3 toe syndactyly, Short toe, Vertebral fusion, Short long bone, Short f... |
OMIM:139210 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Elevated circulating alanine aminotransferase concentration, Hepatic failure, Jaundice, Elevated ... |
ORPHA:79302 |
Mucopolysaccharidosis, Type Iiia |
|
Ovoid thoracolumbar vertebrae, Thickened ribs, Asymmetric septal hypertrophy, Dense calvaria, Ing... |
OMIM:252900 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2 |
|
Elevated circulating alkaline phosphatase concentration, Paget disease of bone |
OMIM:615422 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Asplenia, Splenomegaly, HbS hemoglobin, Reticulocytosis, Persistence of hemoglobin F, Hypochromic... |
ORPHA:251380 |
Mesomelic Dysplasia, Savarirayan Type |
|
Metatarsus valgus, Broad tibial metaphyses, Flared radial metaphysis, Hip dislocation, Elbow disl... |
ORPHA:85170 |
Faciodigitogenital Syndrome, Autosomal Recessive |
|
Vertebral fusion, Camptodactyly, Clinodactyly of the 5th finger, Down-sloping shoulders, Metatars... |
OMIM:227330 |
Cleidocranial Dysplasia |
|
Tapered finger, Micrognathia, Hypoplastic inferior ilia, Spina bifida occulta, Abnormal rib morph... |
ORPHA:1452 |
D-Glyceric Aciduria |
|
Hypoglycemia, Bradycardia |
OMIM:220120 |
Loeys-Dietz Syndrome 6 |
|
Hip osteoarthritis, Scoliosis, Arachnodactyly, Intervertebral disc degeneration, Knee osteoarthritis |
OMIM:619656 |
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
|
Hypoplastic distal segments of scapulae, Micrognathia, Joint hypermobility, Pectus excavatum, Abn... |
OMIM:602196 |
Stapes Ankylosis With Broad Thumbs And Toes |
|
Proximal/middle symphalangism of 5th finger, Toe syndactyly, Fused cervical vertebrae, Broad hall... |
OMIM:184460 |
Fibrochondrogenesis |
|
Camptodactyly of finger, Bell-shaped thorax, Broad ribs, Short ribs, Narrow chest, Brachydactyly,... |
ORPHA:2021 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Triphalangeal thumb, Preaxial hand polydactyly, Vertebral segmentation defect, Abnormal thumb mor... |
ORPHA:1120 |
Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Elevated circulating alkaline phosphatase concentration, Jaundice, Intrahepatic cholestasis |
OMIM:605479 |
Congenital Disorder Of Glycosylation, Type Iij |
|
Elevated circulating alkaline phosphatase concentration, Hepatic failure, Elevated hepatic transa... |
OMIM:613489 |
Osteogenesis Imperfecta |
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