Osteosclerotic Metaphyseal Dysplasia |
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Dense metaphyseal bands, Metaphyseal dysplasia, Increased bone mineral density, Elevated circulat... |
OMIM:615198 |
Hemoglobin D Disease |
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Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Fibular Hemimelia |
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Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... |
ORPHA:93323 |
Epiphyseal Chondrodysplasia, Miura Type |
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Osteopenia, Epiphyseal dysplasia, Arachnodactyly, Elevated alkaline phosphatase of bone origin, B... |
OMIM:615923 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
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Bulging epiphyses, Bowing of the long bones, Delayed epiphyseal ossification, Rickets, Genu varum... |
OMIM:600785 |
Syndactyly Type 4 |
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1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Limitation of join... |
ORPHA:93405 |
Sinoatrial Node Dysfunction And Deafness |
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Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia |
OMIM:614896 |
Hypophosphatasia, Adult |
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Arthropathy, Recurrent fractures, Osteomalacia, Rickets, Low alkaline phosphatase, Increased susc... |
OMIM:146300 |
Acrocapitofemoral Dysplasia |
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Micromelia, Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Short pal... |
OMIM:607778 |
Van Buchem Disease |
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Elevated circulating alkaline phosphatase concentration, Increased bone mineral density, Cranial ... |
OMIM:239100 |
Osteosarcoma |
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Abnormal femoral metaphysis morphology, Increased circulating lactate dehydrogenase concentration... |
ORPHA:668 |
Sickle Cell Anemia |
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Hemolytic anemia, Reticulocytosis, Osteomyelitis, Microcytic anemia, Abnormality of the spleen, L... |
ORPHA:232 |
Atrial Standstill |
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Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... |
ORPHA:1344 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
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Micromelia, Coronal cleft vertebrae, Short long bone, Epiphyseal stippling, Short 3rd metacarpal,... |
OMIM:118651 |
Acromesomelic Dysplasia 2A |
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Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... |
OMIM:200700 |
Osebold-Remondini Syndrome |
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Decreased finger mobility, Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna,... |
OMIM:112910 |
Congenital Amegakaryocytic Thrombocytopenia |
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Abnormal hemoglobin, Short neck, Thrombocytopenia, Abnormal form of the vertebral bodies, Scolios... |
ORPHA:3319 |
Leri-Weill Dyschondrosteosis |
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Abnormal femoral neck morphology, Limited elbow movement, Abnormal metatarsal morphology, Abnorma... |
OMIM:127300 |
Paget Disease Of Bone 4 |
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Elevated circulating alkaline phosphatase concentration, Osteolysis |
OMIM:606263 |
Calvarial Doughnut Lesions With Bone Fragility |
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Osteopenia, Recurrent fractures, Osteoporosis, Femoral bowing, Elevated circulating alkaline phos... |
OMIM:126550 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
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Finger syndactyly, Delayed skeletal maturation, Abnormality of the elbow, Abnormal rib morphology... |
ORPHA:3268 |
Atrial Fibrillation, Familial, 18 |
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Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio... |
OMIM:617280 |
Diamond-Blackfan Anemia 6 |
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Macrocytic anemia, Micrognathia, Short thumb, Persistence of hemoglobin F, Mitral regurgitation, ... |
OMIM:612561 |
Bone Marrow Failure And Diabetes Mellitus Syndrome |
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Type I diabetes mellitus, Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphobla... |
OMIM:620044 |
Acromesomelic Dysplasia, Grebe Type |
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Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... |
ORPHA:2098 |
Multiple Epiphyseal Dysplasia Type 5 |
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Osteoarthritis of the small joints of the hand, Decreased hip abduction, Abnormal acetabulum morp... |
ORPHA:93311 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
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Aplasia/Hypoplasia of the thumb, Short humerus, Long clavicles, Lateral clavicle hook, Elbow disl... |
OMIM:171480 |
Osteogenesis Imperfecta, Type Xi |
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Osteopenia, Joint laxity, Recurrent fractures, Protrusio acetabuli, Kyphoscoliosis, Vertebral wed... |
OMIM:610968 |
Metatropic Dysplasia |
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Abnormal metaphyseal vascular invasion, Enlarged joints, Flexion contracture, Long coccyx, Halber... |
OMIM:156530 |
Thrombocytopenia 5 |
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Epistaxis, Thrombocytopenia, B Acute Lymphoblastic Leukemia, Increased mean corpuscular volume, N... |
OMIM:616216 |
Léri-Weill Dyschondrosteosis |
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Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... |
ORPHA:240 |
Acromesomelic Dysplasia 2C |
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Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida... |
OMIM:201250 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
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Sideroblastic anemia, Hypochromia, Decreased mean corpuscular volume, Anemia |
OMIM:205950 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
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Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... |
OMIM:619041 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
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Short neck, Clinodactyly, Coxa vara, Reduced bone mineral density, Pectus carinatum, Iron deficie... |
ORPHA:93315 |
Fibrodysplasia Ossificans Progressiva |
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Hallux valgus, Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Ecto... |
OMIM:135100 |
Spondylometaphyseal Dysplasia, Type A4 |
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Brachydactyly, Ovoid vertebral bodies, Coxa valga, Metaphyseal sclerosis, Enlargement of the cost... |
OMIM:609052 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 18 |
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Bradycardia |
OMIM:619521 |
Intrinsic Factor Deficiency |
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Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Increased RBC distributio... |
OMIM:261000 |
Familial Expansile Osteolysis |
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Bowing of the long bones, Osteolysis, Elevated circulating alkaline phosphatase concentration, Pa... |
OMIM:174810 |
Bone Marrow Failure Syndrome 6 |
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Osteopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphope... |
OMIM:618849 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
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Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
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Enlargement of the ankles, Bulging epiphyses, Recurrent fractures, Bowing of the legs, Enlargemen... |
OMIM:600081 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
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Sideroblastic anemia, Extramedullary hematopoiesis, Thrombocytopenia, Hypertension, Second degree... |
OMIM:617021 |
Vitamin D-Dependent Rickets, Type 3 |
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Osteopenia, Bowing of the legs, Flared metaphysis, Elevated circulating alkaline phosphatase conc... |
OMIM:619073 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
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Craniofacial hyperostosis, Thickened ribs, Cortical sclerosis, Craniofacial osteosclerosis, Diaph... |
OMIM:122860 |
Methylcobalamin Deficiency Type Cble |
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Syndactyly, Macrocytic anemia, Pancytopenia, Osteoporosis, Hypertension, Increased mean corpuscul... |
ORPHA:2169 |
Spondylocostal Dysostosis 5 |
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Vertebral fusion, Low back pain, Missing ribs, Short neck, Hemivertebrae, Pectus carinatum, Poste... |
OMIM:122600 |
Brachydactyly, Type B1 |
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Type B brachydactyly, Vertebral fusion, Syndactyly, Hypoplastic sacrum, Thoracolumbar scoliosis, ... |
OMIM:113000 |
Otopalatodigital Syndrome Type 1 |
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Increased bone mineral density, Bowing of the long bones, Sandal gap, Proximal placement of thumb... |
ORPHA:90650 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
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Back pain, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosi... |
OMIM:277300 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
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Impaired glucose tolerance, Tapered finger, Long fingers, Atrioventricular block, Glucose intoler... |
OMIM:614407 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
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Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia |
OMIM:611938 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
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Micromelia, Osteoarthritis, Abnormal carpal morphology, Short metatarsal, Coxa vara, Pectus carin... |
ORPHA:93351 |
Oslam Syndrome |
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Clinodactyly of the 5th finger, Radioulnar synostosis, Increased mean corpuscular volume, Abnorma... |
ORPHA:2760 |
Camurati-Engelmann Disease, Type 2 |
|
Osteopenia, Hip contracture, Thoracolumbar scoliosis, Knee flexion contracture, Hyperostosis, Ele... |
OMIM:606631 |
Dehydrated Hereditary Stomatocytosis |
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Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Splenomega... |
ORPHA:3202 |
Sillence Syndrome |
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Brachydactyly, Abnormal distal phalanx morphology of finger, Large tarsal bones, Metatarsus adduc... |
ORPHA:3168 |
Hypophosphatasia, Childhood |
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Rachitic rosary, Low alkaline phosphatase, Craniosynostosis, Bowing of the legs |
OMIM:241510 |
Diaphanospondylodysostosis |
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Short neck, Missing ribs, Short thorax, Enlarged thorax, Narrow pelvis bone, Absent or minimally ... |
ORPHA:66637 |
Intermediate Osteopetrosis |
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Sandwich appearance of vertebral bodies, Osteomyelitis, Recurrent fractures, Cortical sclerosis, ... |
ORPHA:210110 |
Myopathy, Myofibrillar, 1 |
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Hyporeflexia of lower limbs, Dilated cardiomyopathy, Third degree atrioventricular block, Bradyca... |
OMIM:601419 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
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Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Micrognathia |
OMIM:300946 |
Spastic Paraplegia-Paget Disease Of Bone Syndrome |
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Elevated circulating alkaline phosphatase concentration, Increased spinal bone density, Recurrent... |
ORPHA:329475 |
Metaphyseal Chondrodysplasia, Schmid Type |
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Broad proximal phalanges of the hand, Short tubular bones of the hand, Bowing of the legs, Proxim... |
ORPHA:174 |
Dehydrated Hereditary Stomatocytosis 2 |
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Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog... |
OMIM:616689 |
Langer Mesomelic Dysplasia |
|
Hypoplasia of the ulna, Lumbar hyperlordosis, Radial bowing, Micrognathia, Hypoplasia of the radi... |
OMIM:249700 |
Fibrodysplasia Ossificans Progressiva |
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Hallux valgus, Short hallux, Spinal rigidity, Limitation of joint mobility, Ectopic ossification ... |
ORPHA:337 |
Diamond-Blackfan Anemia 7 |
|
Osteopenia, Macrocytic anemia, Short thumb, Osteoporosis, Increased mean corpuscular volume, Scol... |
OMIM:612562 |
Long Qt Syndrome 15 |
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Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... |
OMIM:616249 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
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Osteopenia, Broad tibial metaphyses, Tibial bowing, Humerus varus, Exostoses of the ulna, Scleros... |
ORPHA:85188 |
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia |
|
Sick sinus syndrome, Bradycardia |
OMIM:617173 |
Aarskog-Scott Syndrome |
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Finger syndactyly, Inguinal hernia, Pes planus, Genu recurvatum, Camptodactyly of finger, Talipes... |
ORPHA:915 |
Diamond-Blackfan Anemia 1 |
|
Short neck, Micrognathia, Reticulocytopenia, Hypoplastic coccygeal vertebrae, Narrow chest, Triph... |
OMIM:105650 |
Chronic Atrial And Intestinal Dysrhythmia |
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Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Mitral regurgitation, Sick sinus ... |
OMIM:616201 |
Kyphomelic Dysplasia |
|
Bowing of the long bones, Anterior rib cupping, Micromelia, Missing ribs, Lateral clavicle hook, ... |
ORPHA:1801 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
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Hypoplasia of the ulna, Short femur, Absent thumb, Delayed skeletal maturation, Fibular hypoplasi... |
OMIM:612447 |
Diamond-Blackfan Anemia 8 |
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Macrocytic anemia, Increased mean corpuscular volume, Neutropenia |
OMIM:612563 |
Shwachman-Diamond Syndrome |
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Osteopenia, Normocytic anemia, Transient neutropenia, Aplastic anemia, Metaphyseal chondrodysplas... |
ORPHA:811 |
Bent Bone Dysplasia Syndrome 2 |
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Osteopenia, Ulnar deviation of the hand, Bowed humerus, Short neck, Short tibia, Ulnar bowing, Th... |
OMIM:620076 |
Coronary Artery Disease, Autosomal Dominant 2 |
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Impaired glucose tolerance, Sudden cardiac death, Myocardial infarction, Osteoporosis, Gout, Hype... |
OMIM:610947 |
Metatropic Dysplasia |
|
Abnormal intervertebral disk morphology, Camptodactyly of finger, Micromelia, Abnormal enchondral... |
ORPHA:2635 |
Hemoglobin E Disease |
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Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
Endosteal Hyperostosis, Worth Type |
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Craniofacial hyperostosis, Sclerotic vertebral body, Generalized osteosclerosis, Abnormal rib mor... |
ORPHA:2790 |
Kniest Dysplasia |
|
Arthropathy, Enlarged epiphyses, Enlarged joints, Abnormality of the epiphysis of the femoral hea... |
ORPHA:485 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Flexion contracture, Bradycardia |
OMIM:618815 |
Paget Disease Of Bone 6 |
|
Elevated circulating alkaline phosphatase concentration, Osteoarthritis, Recurrent fractures |
OMIM:616833 |
Mesomelic Dysplasia, Savarirayan Type |
|
Delayed closure of the anterior fontanelle, Abnormal foot morphology, Abnormal thorax morphology,... |
OMIM:605274 |
Majeed Syndrome |
|
Osteomyelitis, Anemia of inadequate production, Microcytic anemia, Delayed skeletal maturation, F... |
OMIM:609628 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Enlargement of the ankles, Bulging epiphyses, Recurrent fractures, Bowing of the legs, Enlargemen... |
OMIM:241530 |
Immunoerythromyeloid Hypoplasia |
|
Absent leukocyte alkaline phosphatase |
OMIM:242880 |
Thrombocytopenia-Absent Radius Syndrome |
|
Finger syndactyly, Tibial torsion, Aplasia/Hypoplasia of the patella, Micrognathia, Absent radius... |
ORPHA:3320 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Vertebral fusion, Sacral dimple, Short thorax, Short long bone, Vertebral segmentation defect, Ta... |
OMIM:618845 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Hypertrophic cardiomyopathy, Bradycardia, Scoliosis |
OMIM:616276 |
Isolated Klippel-Feil Syndrome |
|
Short neck, Abnormal sacrum morphology, Abnormal rib morphology, Abnormal shoulder morphology, Ab... |
ORPHA:2345 |
Long Qt Syndrome 16 |
|
Second degree atrioventricular block, Prolonged QTc interval, T-wave alternans, Bradycardia |
OMIM:618782 |
Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Metaphyseal dysplasia, Pancytopenia, Congenital hip dislocation, Aplastic... |
OMIM:617052 |
Holt-Oram Syndrome |
|
Abnormal clavicle morphology, Paroxysmal atrial fibrillation, First degree atrioventricular block... |
ORPHA:392 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormal clavicle morphology, Hyperlordosis, Pectus excavatum, Short neck, Kyphosis, Micrognathia... |
ORPHA:2522 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Elbow contracture, Multiple pterygia, Short neck, Hemivertebrae, Pectus carinatum, Knee flexion c... |
OMIM:178110 |
Femoral-Facial Syndrome |
|
Inguinal hernia, Short femur, Maternal diabetes, Micrognathia, Abnormal sacrum morphology, Rib fu... |
ORPHA:1988 |
Hypophosphatemic Rickets, Autosomal Dominant |
|
Hypophosphatemic rickets, Elevated circulating alkaline phosphatase concentration, Rickets, Osteo... |
OMIM:193100 |
Neutrophilia, Hereditary |
|
Elevated leukocyte alkaline phosphatase |
OMIM:162830 |
Paget Disease Of Bone 3 |
|
Fractures of the long bones, Elevated circulating alkaline phosphatase concentration, Osteolysis,... |
OMIM:167250 |
Multiple Synostoses Syndrome 2 |
|
Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Proximal symp... |
OMIM:610017 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Thoracic kyphoscoliosis, Vertebral fusion, Lumbar hyperlordosis, 2-3 toe syndactyly, Pectus carin... |
ORPHA:313892 |
Hereditary Central Diabetes Insipidus |
|
Polydipsia, Weight loss |
ORPHA:30925 |
Lethal Faciocardiomelic Dysplasia |
|
Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ... |
ORPHA:1972 |
Paroxysmal Extreme Pain Disorder |
|
Tachycardia, Bradycardia |
OMIM:167400 |
Idiopathic Congenital Hypothyroidism |
|
Delayed proximal femoral epiphyseal ossification, Abnormal epiphysis morphology, Bradycardia, Umb... |
ORPHA:95717 |
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Abnormal sacrum morphology, Fused cervical vertebrae, Short middle phalanx of finger, Type II dia... |
ORPHA:1436 |
Familial Pseudohyperkalemia |
|
Reticulocytosis, Hypertension, Stomatocytosis, Increased mean corpuscular volume, Episodic hemoly... |
ORPHA:90044 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Anisocytosis, Abnormal erythrocyte morphology, Melena, Increased mean corpuscular volume, Poikilo... |
ORPHA:98870 |
Acquired Central Diabetes Insipidus |
|
Polydipsia, Weight loss |
ORPHA:95626 |
Heart-Hand Syndrome Type 2 |
|
Abnormal clavicle morphology, Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micro... |
ORPHA:1350 |
Stuve-Wiedemann Syndrome 1 |
|
Enlarged joints, Short neck, Micrognathia, Knee flexion contracture, Femoral bowing, Tibial bowin... |
OMIM:601559 |
Eiken Syndrome |
|
Short palm, Absence of the sacrum, Abnormal trabecular bone morphology, Abnormal acetabulum morph... |
ORPHA:79106 |
Microcephaly With Cervical Spine Fusion Anomalies |
|
Vertebral fusion, Spinal instability |
OMIM:251250 |
Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Prolonged QT interval, Osteopenia, Tachycardia, Atrial fibrillation, Lipodystrophy, Accelerated s... |
OMIM:613327 |
Beta-Thalassemia Intermedia |
|
Osteopenia, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Diabetes mellitus, Anemia of... |
ORPHA:231222 |
Paget Disease Of Bone 2, Early-Onset |
|
Sandwich appearance of vertebral bodies, Bowing of the long bones, Short femur, Fractures of the ... |
OMIM:602080 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis |
OMIM:241520 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Splenomegaly, Abnormal bone structure, Anemia |
ORPHA:46532 |
Mesomelic Dysplasia, Kantaputra Type |
|
Camptodactyly of finger, Tarsal synostosis, Talipes, Abnormality of the humerus, Abnormal rib mor... |
ORPHA:1836 |
Axial Spondylometaphyseal Dysplasia |
|
Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Proximal femoral metaphyseal... |
ORPHA:168549 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia |
OMIM:613839 |
Congenital Heart Block |
|
First degree atrioventricular block, Gallop rhythm, Congestive heart failure, Atrioventricular bl... |
ORPHA:60041 |
Weismann-Netter Syndrome |
|
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Kyphosis, Abno... |
ORPHA:3344 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Congestive heart failure, Hypoglycemia, Bradycardia |
OMIM:619048 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6 |
|
Osteopenia, Hip contracture, Toe syndactyly, Elbow flexion contracture, 2-3 toe syndactyly, Short... |
OMIM:616809 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Metaphyseal dysplasia, Short metacarpal, Lumbar hyperlordosis, Hypoplastic sacrum, Capitate-hamat... |
OMIM:271650 |
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Sick sinus syndrome, Bradycardia |
OMIM:617182 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Abnormal hemoglobin, Anemia |
ORPHA:231249 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Shortening of the talar neck, Osteomalacia, Bowing of the legs, Osteoarthritis, Rickets, Trapezoi... |
OMIM:307800 |
Refractory Anemia With Excess Blasts |
|
Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Bone pain, Retinal hemorrh... |
ORPHA:86839 |
Orofaciodigital Syndrome Type 10 |
|
Radial deviation of the hand, Tarsal synostosis, Duplication of thumb phalanx, Micrognathia, Shor... |
ORPHA:2756 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... |
OMIM:616117 |
X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Bradycardia |
ORPHA:2898 |
Pseudoachondroplasia |
|
Genu recurvatum, Limited hip extension, Spatulate ribs, Delayed epiphyseal ossification, Osteoart... |
OMIM:177170 |
Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures |
|
Low alkaline phosphatase, Brachydactyly |
OMIM:618879 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Enlargement of the ankles, Bulging epiphyses, Recurrent fractures, Bowing of the legs, Subperiost... |
OMIM:264700 |
Dominant Beta-Thalassemia |
|
Bowing of the long bones, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin con... |
ORPHA:231226 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Absent phalangeal c... |
OMIM:618469 |
Central Diabetes Insipidus |
|
Polydipsia, Failure to thrive, Anorexia, Weight loss |
ORPHA:178029 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Anterior wedging of T12, Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Gen... |
OMIM:300106 |
Atrial Septal Defect 6 |
|
Atrial fibrillation, Bradycardia |
OMIM:613087 |
Craniometadiaphyseal Dysplasia |
|
Osteopenia, Broad long bones, Coxa valga, Flared metaphysis, Genu valgum, Sclerosis of skull base... |
OMIM:269300 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration, Decreased... |
OMIM:616829 |
Bile Acid Conjugation Defect 1 |
|
Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala... |
OMIM:619232 |
Familial Short Qt Syndrome |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... |
ORPHA:51083 |
Trimethylaminuria |
|
Tachycardia, Splenomegaly, Hypertension, Neutropenia, Anemia |
OMIM:602079 |
Congenital Myopathy 22A, Classic |
|
Hip contracture, Scapular winging, Thoracic scoliosis, Tricuspid regurgitation, Talipes, Spinal r... |
OMIM:620351 |
Mitochondrial Complex I Deficiency, Nuclear Type 13 |
|
Hypertrophic cardiomyopathy, Bradycardia, Cardiac arrest |
OMIM:618235 |
16Q24.3 Microdeletion Syndrome |
|
Proximal placement of thumb, Micrognathia, Kyphosis, Dilated cardiomyopathy, Mitral regurgitation... |
ORPHA:261250 |
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
|
Prominent metopic ridge, Fused cervical vertebrae, Glucose intolerance, Short middle phalanx of f... |
OMIM:309620 |
Progressive Familial Heart Block, Type Ib |
|
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... |
OMIM:604559 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral fusion, Abnormal odontoid process morphology, Block vertebrae, Missing ribs, Pectus exc... |
OMIM:613686 |
X-Linked Hypophosphatemia |
|
Beaded ribs, Bowing of the legs, Generalized osteosclerosis, Trapezoidal distal femoral condyles,... |
ORPHA:89936 |
Diastrophic Dysplasia |
|
Joint dislocation, Abnormal clavicle morphology, Micromelia, Micrognathia, Proximal placement of ... |
ORPHA:628 |
Atelosteogenesis, Type I |
|
Short neck, Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Narrow chest, Verteb... |
OMIM:108720 |
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive |
|
Bradycardia |
OMIM:620265 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Irregular vertebral endplates, Narrow greater sciatic notch, Hypoplastic iliac wing, Lumbar hyper... |
OMIM:609616 |
Beta-Thalassemia Major |
|
Bowing of the long bones, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin con... |
ORPHA:231214 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Pulmonary embolism, Splenomegaly, Stomatocytosis, Increased me... |
OMIM:185000 |
Aminoacylase 1 Deficiency |
|
Bradycardia |
OMIM:609924 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Hypertrophic cardiomyopathy, Bradycardia |
OMIM:616277 |
Kbg Syndrome |
|
Vertebral fusion, Persistent open anterior fontanelle, Short neck, Delayed skeletal maturation, C... |
ORPHA:2332 |
Acheiropody |
|
Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of the ulna, Absent radiu... |
OMIM:200500 |
Acitretin/Etretinate Embryopathy |
|
Aplasia/hypoplasia involving bones of the lower limbs, Aplasia/Hypoplasia of the maxilla, Aplasia... |
ORPHA:40366 |
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis |
|
Posterior fusion of lumbosacral vertebrae |
OMIM:192800 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... |
OMIM:600858 |
Ring Chromosome 21 Syndrome |
|
Fused thoracic vertebrae, Syndactyly, Abnormal thorax morphology, Small hand, Scoliosis, Thoracic... |
ORPHA:1445 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Thrombocytopenia, Osteoporosis, Leukopenia, Increased mean corpuscular volume, B... |
OMIM:127550 |
Tibial Hemimelia |
|
Hemivertebrae, Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contrac... |
ORPHA:93322 |
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Brachydactyly, Bifid distal phalanx of the thumb, Triangular shaped distal phalanx of the thumb, ... |
ORPHA:370010 |
Slc35A2-Cdg |
|
Osteopenia, Limb joint contracture, Camptodactyly of finger, Craniosynostosis, Coxa valga, Metata... |
ORPHA:356961 |
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
|
Sacral dimple, Tarsal synostosis, Joint stiffness, Abnormal form of the vertebral bodies, Posteri... |
ORPHA:2064 |
Vitamin D-Dependent Rickets, Type 2A |
|
Enlargement of the ankles, Bulging epiphyses, Recurrent fractures, Bowing of the legs, Subperiost... |
OMIM:277440 |
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Fusion of midcervical facet joints, Cervical vertebral bodies with decreased anteroposterior diam... |
OMIM:606842 |
Atrial Fibrillation, Familial, 10 |
|
Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Permanent atrial fibrill... |
OMIM:614022 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Short neck, Micrognathia, Hemivertebrae, Short palm, Thoracic hemivertebrae, Duplication of the d... |
OMIM:268310 |
Osteogenesis Imperfecta, Type Ix |
|
Short lower limbs, Recurrent fractures, Beaded ribs, Pectus excavatum, Kyphosis, Multiple prenata... |
OMIM:259440 |
Hypophosphatemic Rickets, Autosomal Recessive, 2 |
|
Coxa valga, Genu valgum, Elevated circulating alkaline phosphatase concentration, Hypophosphatemi... |
OMIM:613312 |
Sudden Cardiac Failure, Infantile |
|
Sudden cardiac death, Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyop... |
OMIM:617222 |
Multiple Pterygium Syndrome, X-Linked |
|
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Micrognathia... |
OMIM:312150 |
Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Pure red cell aplasia, Short neck, Micrognathia, Erythroid hypoplasia, Sh... |
ORPHA:124 |
Spondylocarpotarsal Synostosis Syndrome |
|
Short neck, Coxa vara, Pectus carinatum, Vertebral segmentation defect, Clinodactyly of the 5th f... |
OMIM:272460 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Joint stiffness, Cupped ribs, Metaphyseal w... |
OMIM:608940 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Omphalocele, Abnormal clavicle morphology, Bowing of the long bones, Rhizomelia, Proximal placeme... |
ORPHA:93267 |
Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
Atelosteogenesis Type Iii |
|
Short tubular bones of the hand, Micrognathia, Knee dislocation, Short tibia, Vertebral hypoplasi... |
ORPHA:56305 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Short neck, Micrognathia, Flexion contracture, Hemivertebrae, Tibial bowing, Narrow chest, Hypopl... |
ORPHA:96334 |
Timothy Syndrome |
|
Prolonged QT interval, Hypoglycemia, Ventricular tachycardia, Atrioventricular block, Cutaneous s... |
OMIM:601005 |
Microcephaly-Micromelia Syndrome |
|
Craniosynostosis, Short neck, Missing ribs, Micromelia, Micrognathia, Humeroradial synostosis, Ab... |
OMIM:251230 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Hypoglycemia, Cardiac arrest, Ventricular tachycardia, Atrioventricular block, Premature ventricu... |
OMIM:212138 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
|
11 pairs of ribs, Overlapping toe, Micrognathia, Fibular hypoplasia, Talipes equinovarus, Triphal... |
OMIM:201170 |
Long Qt Syndrome 8 |
|
Syndactyly, Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolo... |
OMIM:618447 |
Developmental And Epileptic Encephalopathy 101 |
|
Third degree atrioventricular block, Limb joint contracture, Bradycardia |
OMIM:619814 |
Dyggve-Melchior-Clausen Disease |
|
Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Pectus carinatum, Femoral... |
OMIM:223800 |
Myeloproliferative Disease, Autosomal Recessive |
|
Reduced leukocyte alkaline phosphatase |
OMIM:254700 |
Heart Defects-Limb Shortening Syndrome |
|
Accelerated skeletal maturation, Mesomelic/rhizomelic limb shortening, Kyphosis, Abnormal rib mor... |
ORPHA:1354 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Vertebral fusion, Hyperlordosis, Kyphosis, Achilles tendon contracture, Dilated cardiomyopathy, A... |
OMIM:607155 |
Glutamine Deficiency, Congenital |
|
Flexion contracture, Bradycardia, Micromelia, Camptodactyly |
OMIM:610015 |
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Atrial fibrillation, Bradycardia |
OMIM:614302 |
Osteogenesis Imperfecta, Type Ii |
|
Crumpled long bones, Broad long bones, Recurrent fractures, Beaded ribs, Multiple prenatal fractu... |
OMIM:166210 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Spondylometaphyseal Dysplasia, Axial |
|
Rhizomelia, Anterior rib cupping, Splenomegaly, Proximal femoral metaphyseal irregularity, Coxa v... |
OMIM:602271 |
Osteopetrosis, Autosomal Recessive 1 |
|
Sandwich appearance of vertebral bodies, Increased bone mineral density, Osteomyelitis, Increased... |
OMIM:259700 |
Long Qt Syndrome 9 |
|
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... |
OMIM:611818 |
Hypophosphatasia, Infantile |
|
Craniosynostosis, Bowing of the legs, Vertebral clefting, Low alkaline phosphatase, Increased sus... |
OMIM:241500 |
Endove Syndrome, Limb-Only Type |
|
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti... |
OMIM:619217 |
Neurodevelopmental Disorder With Or Without Hypotonia, Seizures, And Cerebellar Atrophy |
|
Elevated circulating alkaline phosphatase concentration |
OMIM:616917 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Inguinal hernia, Joint contracture, Bradycardia, Micrognathia |
OMIM:614498 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Delayed epiphyseal ossification, Abnormal epiphysis morphology, Bradycardia, Umbilical hernia, Ab... |
ORPHA:226313 |
Jeune Syndrome |
|
Abnormal clavicle morphology, Toe syndactyly, Micromelia, Postaxial hand polydactyly, Short thora... |
ORPHA:474 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Vertebral fusion, Elbow contracture, Hyperlordosis, Kyphosis, Achilles tendon contracture, Calf m... |
OMIM:606612 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Osteopenia, Thoracic scoliosis, Short neck, Micrognathia, Osteoarthritis, Generalized joint laxit... |
OMIM:618000 |
Frontometaphyseal Dysplasia 1 |
|
Limited elbow movement, Absent frontal sinuses, Knee flexion contracture, Increased density of lo... |
OMIM:305620 |
Multiple Pterygium Syndrome, Lethal Type |
|
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Micrognathia... |
OMIM:253290 |
Grant Syndrome |
|
Joint dislocation, Bowing of the long bones, Micrognathia, Abnormal cortical bone morphology, Abn... |
ORPHA:2097 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Delayed epiphyseal ossification, F... |
ORPHA:166016 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:231393 |
Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Cardiac arrest, Abnormal thorax morphology, Bradycardia, Hypotension |
ORPHA:70587 |
Hemochromatosis, Type 4 |
|
Diabetes mellitus, Impaired glucose tolerance, Osteoarthritis, Cardiomyopathy, Glucose intoleranc... |
OMIM:606069 |
Glycosylphosphatidylinositol Biosynthesis Defect 25 |
|
Low alkaline phosphatase, Ankle flexion contracture |
OMIM:619985 |
Necrotizing Enterocolitis |
|
Shock, Leukocytosis, Bradycardia, Hypotension, Neutropenia, Abnormal glucose homeostasis, Hypergl... |
ORPHA:391673 |
Keratoconus Posticus Circumscriptus |
|
Limited elbow extension and supination, Short neck, Clinodactyly of the 5th finger, Abnormal vert... |
OMIM:244600 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Dysplastic iliac wing, Lumbar hyperlordosis, Ovoid vertebral bodies, Micromelia, Bowing of the le... |
OMIM:608728 |
Orofaciodigital Syndrome Viii |
|
Syndactyly, Short tibia, Polydactyly |
OMIM:300484 |
Renal Glucosuria |
|
Polydipsia, Polyphagia |
OMIM:233100 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Anisocytosis, Splenomegaly, Hepatosplenomegaly, Decreased mean corpuscular volume, Type II diabet... |
OMIM:616860 |
Microphthalmia With Limb Anomalies |
|
Micrognathia, Abnormal form of the vertebral bodies, Tibial bowing, Camptodactyly of 2nd-5th fing... |
ORPHA:1106 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia |
OMIM:246570 |
Cln3 Disease |
|
T-wave inversion, Vacuolated lymphocytes, Bradycardia |
ORPHA:228346 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Radial bowing, Rhizomelia, Irregular sclerotic endplates, Delayed skeletal maturation, Osteoarthr... |
OMIM:602111 |
Chromosome 8Q22.1 Duplication Syndrome |
|
Hallux valgus, Enlarged interphalangeal joints, Short metacarpal, Genu recurvatum, Interphalangea... |
OMIM:151200 |
Caudal Regression Syndrome |
|
Maternal diabetes, Missing ribs, Joint stiffness, Aplasia/Hypoplasia of the sacrum, Abnormal ilia... |
ORPHA:3027 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Pes planus, Inguinal hernia, Club-shaped proximal femur, Brachydactyly, Anterior rib cupping, Hyp... |
OMIM:184250 |
Hemoglobin H Disease |
|
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ... |
OMIM:609813 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Elevated circulating alkaline phosphatase concentration, Jaundice, Elevated circulating alanine a... |
OMIM:619658 |
Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... |
OMIM:163800 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Enlarged joints, Irregular, rachitic-like metaphyses, Short neck, Coxa vara, Pectus carinatum, Ha... |
OMIM:184252 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Omphalocele, Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyl... |
ORPHA:3329 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Joint dislocation, Recurrent fractures, Osteomalacia, Bone cyst, Genu varum, Osteolysis, Abnormal... |
ORPHA:93160 |
Lipoyltransferase 1 Deficiency |
|
Pulmonary arterial hypertension, Bradycardia |
OMIM:616299 |
Familial Thyroid Dyshormonogenesis |
|
Delayed proximal femoral epiphyseal ossification, Abnormal epiphysis morphology, Bradycardia, Umb... |
ORPHA:95716 |
Eisenmenger Syndrome |
|
Ventricular tachycardia, Pedal edema, Iron deficiency anemia, Supraventricular tachycardia, Tricu... |
ORPHA:97214 |
Type 1 Diabetes Mellitus |
|
Polydipsia, Polyphagia |
OMIM:222100 |
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
|
Short tibia, Hypoplasia of the radius, Pseudoarthrosis |
OMIM:156230 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Short humerus, Short femur, Rhizomelia, Hypoglycemia, Sandal gap, Hypoplasia of the radius, Short... |
OMIM:607143 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Joint laxity, Hypoplasia of the ulna, Pes planus, Short neck, Tapered finger, Multiple joint disl... |
OMIM:618395 |
Eiken Syndrome |
|
Broad femoral neck, Delayed epiphyseal ossification, Long thumb, Flat acetabular roof, Fibular hy... |
OMIM:600002 |
Cardiomyopathy, Dilated, 1A |
|
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, C... |
OMIM:115200 |
Short Qt Syndrome 2 |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... |
OMIM:609621 |
Tako-Tsubo Cardiomyopathy |
|
Prolonged QT interval, Atrial fibrillation, Mildly reduced left ventricular ejection fraction, An... |
ORPHA:66529 |
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Lateral clavicle hook, Postaxial hand polydactyly, Postaxial foot polydactyly, Trident acetabulum... |
OMIM:617405 |
Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Pancytopenia, Anterior rib cupping, Ovoid vertebral bodies, Metaphyseal s... |
OMIM:260400 |
Pseudo-Torch Syndrome 2 |
|
Thrombocytopenia, Bradycardia, Cerebral hemorrhage, Thin ribs |
OMIM:617397 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Vertebral fusion, Vaginal hernia, Abnormal dental enamel morphology, Elbow dislocation, Kyphosis,... |
ORPHA:2916 |
Achondrogenesis Type 1B |
|
Femoral hernia, Micromelia, Abnormal enchondral ossification, Short neck, Micrognathia, Short tho... |
ORPHA:93298 |
Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Short metacarpal, Brachydactyly, Short toe, Split hand, Short tibia, Finger symphalangism, Contra... |
OMIM:612576 |
Otopalatodigital Syndrome Type 2 |
|
Micrognathia, Preaxial polydactyly, Narrow chest, Short palm, Abnormal vertebral segmentation and... |
ORPHA:90652 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Joint dislocation, Knee flexion contracture, Femoral bowing, Short 5th metacarpal, Radial bowing,... |
OMIM:618019 |
Long Qt Syndrome 5 |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... |
OMIM:613695 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... |
OMIM:603902 |
Mucopolysaccharidosis Type 4 |
|
Joint dislocation, Short neck, Pectus carinatum, Reduced bone mineral density, Hernia, Abnormal d... |
ORPHA:582 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Omphalocele, Microretrognathia, Rhizomelia, Postaxial polydactyly, Unicoronal synostosis, Squared... |
OMIM:616300 |
Occipital Horn Syndrome |
|
Osteopenia, Coxa vara, Pectus carinatum, Humerus varus, Narrow chest, Short palm, Large iliac win... |
ORPHA:198 |
Cartilage-Hair Hypoplasia |
|
Micromelia, Short neck, Heart block, Accelerated skeletal maturation, Metaphyseal chondrodysplasi... |
ORPHA:175 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Hypertrophic cardiomyopathy, Hypoglycemia, Bradycardia |
OMIM:614702 |
Sick Sinus Syndrome 4 |
|
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... |
OMIM:619464 |
Progressive Familial Heart Block, Type Ii |
|
Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin... |
OMIM:140400 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Cardiomyopathy, Arrhythmia, Diabetes mellitus, Bradycardia |
OMIM:609286 |
Atrial Standstill 2 |
|
Atrial cardiomyopathy, Absent P wave, Scarring, Atrial standstill, Cardiomyopathy, Bradycardia, P... |
OMIM:615745 |
Hypophosphatasia |
|
Bowing of the long bones, Recurrent fractures, Craniosynostosis, Abnormal rib morphology, Narrow ... |
ORPHA:436 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hemolytic anemia, Reticulocytosis, Rickets, Hepatosplenomegaly, Decreased mean corpuscular volume |
OMIM:611590 |
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Abnormal rib morphology |
ORPHA:2435 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Tricuspid regurgitation, Lateral clavicle hook, Preaxial hand polydactyly, Postaxial hand polydac... |
OMIM:263520 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Elevated circulating alkaline phosphatase concentration, Rickets, Osteomalacia, Bowing of the legs |
ORPHA:89937 |
Wild Type Attr Amyloidosis |
|
Abnormal EKG, Myocardial infarction, Congestive heart failure, Pedal edema, Bradycardia, Arrhythm... |
ORPHA:330001 |
Thrombocytopenia-Absent Radius Syndrome |
|
Edema of the dorsum of feet, Micrognathia, Lateral clavicle hook, Femoral bowing, Abnormal should... |
OMIM:274000 |
Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Postaxial polydactyly, Micrognathia, Pectus excavatum, Hand polydactyly, Foot pol... |
OMIM:258860 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Short neck, Micrognathia, Short metatarsal,... |
OMIM:609945 |
Brugada Syndrome |
|
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... |
ORPHA:130 |
Osteopetrosis, Autosomal Recessive 9 |
|
Increased bone mineral density, Cortical sclerosis, Elevated circulating alkaline phosphatase con... |
OMIM:620366 |
Oncogenic Osteomalacia |
|
Abnormal pelvis bone morphology, Abnormality of the tarsal bones, Fibrous dysplasia of the bones,... |
ORPHA:352540 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Omphalocele, Abnormally ossified vertebrae, Bowing of the long bones, Radial bowing, Micrognathia... |
ORPHA:3035 |
Romano-Ward Syndrome |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Abnormal T-wave, Prolonged ... |
ORPHA:101016 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Hyperlordosis, Osteolysis, Increased susceptibility to fractures, Abnormal long bone morphology, ... |
ORPHA:52430 |
Illum Syndrome |
|
Arthrogryposis multiplex congenita, Bradycardia |
OMIM:208155 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
Atrial Fibrillation, Familial, 7 |
|
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... |
OMIM:612240 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Erythroid hyperplasia, Decreased mean corpuscular volume, Hypochromia, Anemia |
OMIM:206100 |
Proximal Spinal Muscular Atrophy |
|
Multiple joint contractures, Flexion contracture, Hip dislocation, Elbow flexion contracture, Abs... |
ORPHA:70 |
Larsen Syndrome |
|
Cervical kyphosis, Short metatarsal, Pectus carinatum, Knee dislocation, Spina bifida occulta, Hy... |
OMIM:150250 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Congenital foot contractures, Ankle clonus, Bradycardia, Scoliosis, Prominent calcaneus, Neonatal... |
ORPHA:565624 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Congenital diaphragmatic hernia, Short neck, Micrognathia, Flexion c... |
OMIM:265000 |
Verheij Syndrome |
|
Joint laxity, Vertebral fusion, Short neck, Hemivertebrae, Hip dislocation, Short 5th finger, Sco... |
OMIM:615583 |
Melnick-Needles Syndrome |
|
Omphalocele, Craniofacial hyperostosis, Bowing of the long bones, Delayed cranial suture closure,... |
ORPHA:2484 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Short neck, Fused cervical vertebrae, Scoliosis, Cervical C2/C3 vertebral fusion, Sprengel anomaly |
OMIM:214300 |
Beta-Thalassemia |
|
Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Reduced bone mineral dens... |
ORPHA:848 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Enlargement of the ankles, Wide cranial sutures, Elevated alkaline phosphatase of bone origin, Os... |
ORPHA:289157 |
Acromesomelic Dysplasia 4 |
|
Thoracic scoliosis, Accelerated skeletal maturation, Short metatarsal, Short phalanx of finger, G... |
OMIM:619636 |
Spondylometaphyseal Dysplasia, A4 Type |
|
Micromelia, Limitation of joint mobility, Coxa vara, Platyspondyly, Flared, irregular rib ends, S... |
ORPHA:168555 |
Kenny-Caffey Syndrome, Type 1 |
|
Long clavicles, Delayed closure of the anterior fontanelle, Thin clavicles, Delayed skeletal matu... |
OMIM:244460 |
Coenzyme Q10 Deficiency, Primary, 5 |
|
Bradycardia |
OMIM:614654 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia |
ORPHA:542306 |
Gorlin Syndrome |
|
Vertebral fusion, Arachnodactyly, Plantar pits, Hemivertebrae, Vertebral wedging, Scoliosis, Brac... |
ORPHA:377 |
Osteogenesis Imperfecta, Type Iii |
|
Recurrent fractures, Protrusio acetabuli, Severe generalized osteoporosis, Multiple prenatal frac... |
OMIM:259420 |
Dyggve-Melchior-Clausen Disease |
|
Glenoid fossa hypoplasia, Short neck, Coxa vara, Pectus carinatum, Broad ribs, Iliac crest serrat... |
ORPHA:239 |
Klippel-Feil Syndrome 3, Autosomal Dominant |
|
Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion |
OMIM:613702 |
Achondrogenesis Type 1A |
|
Multiple rib fractures, Femoral hernia, Recurrent fractures, Micromelia, Short neck, Abnormal enc... |
ORPHA:93299 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Micromelia, Short neck, Narrow chest, Severe limb shortening, Radial bowing, Rhizomelia, Dumbbell... |
OMIM:151210 |
Basal Cell Nevus Syndrome 1 |
|
Vertebral fusion, Short distal phalanx of the thumb, Down-sloping shoulders, Kyphoscoliosis, Plan... |
OMIM:109400 |
Simpson-Golabi-Behmel Syndrome |
|
Bundle branch block, Congenital hip dislocation, Congenital diaphragmatic hernia, Short neck, Acc... |
ORPHA:373 |
Sick Sinus Syndrome 1 |
|
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... |
OMIM:608567 |
Gorham-Stout Disease |
|
Osteopenia, Osteomyelitis, Elevated alkaline phosphatase of bone origin, Abnormal pelvis bone mor... |
ORPHA:73 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,... |
OMIM:604772 |
Frontometaphyseal Dysplasia |
|
Limited elbow movement, Micrognathia, Metaphyseal widening, Short metatarsal, Spina bifida occult... |
ORPHA:1826 |
Immunodeficiency 96 |
|
Conjunctival telangiectasia, Increased proportion of gamma-delta T cells, Increased mean corpuscu... |
OMIM:619774 |
Cardiac Arrhythmia, Ankyrin-B-Related |
|
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope |
OMIM:600919 |
Osteogenesis Imperfecta, Type X |
|
Osteopenia, Thoracic scoliosis, Micromelia, Micrognathia, Generalized joint laxity, Tibial bowing... |
OMIM:613848 |
Kleine-Levin Syndrome |
|
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Agitatio... |
ORPHA:33543 |
Poland Syndrome |
|
Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Short neck, Hemivertebrae, Pect... |
ORPHA:2911 |
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Genu varum, Joint laxity, Lumbar... |
OMIM:250420 |
Craniodiaphyseal Dysplasia |
|
Craniofacial hyperostosis, Abnormal rib morphology, Diaphyseal thickening |
ORPHA:1513 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Normochromic anemia, Bradycardia, Hypertrophic cardiomyopathy, Thro... |
OMIM:618775 |
Alkaptonuria |
|
Arthropathy, Vertebral fusion, Kyphosis, Limited shoulder movement, Arthritis, Limited hip moveme... |
OMIM:203500 |
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
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Thoracolumbar scoliosis, Short neck, Micrognathia, Flexion contracture, Cardiomyopathy, Cervical ... |
OMIM:616549 |
Abnormal Hair, Joint Laxity, And Developmental Delay |
|
Short fourth metatarsal, Tricuspid regurgitation, Short fifth metatarsal, Clinodactyly of the 5th... |
OMIM:261990 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Superior rib anomalies, Hyperglycemia, Abnormality of the cervical spine, Glucose intolerance |
OMIM:307500 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Tachycardia, Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturity-onset diabe... |
ORPHA:324575 |
Incessant Infant Ventricular Tachycardia |
|
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... |
ORPHA:45453 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Vertebral fusion, Inguinal hernia, Block vertebrae, Short neck, Missing ribs, Rib fusion, Hemiver... |
OMIM:271520 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short neck, Delayed epiphyseal ossification, Long fibula, Narrow chest, Narrow greater sciatic no... |
OMIM:250220 |
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication |
OMIM:188740 |
Fibrochondrogenesis 1 |
|
Short neck, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Widely pate... |
OMIM:228520 |
Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Short neck, Abnormal rib morphology, Scoliosis, Cervical C2/C3 vertebral fusion, Sprengel anomaly... |
OMIM:118100 |
Greenberg Dysplasia |
|
Micromelia, Beaded ribs, Multiple prenatal fractures, Micrognathia, Patchy variation in bone mine... |
OMIM:215140 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Enlargement of the ankles, Bulging epiphyses, Recurrent fractures, Osteomalacia, Bowing of the le... |
OMIM:300554 |
Omodysplasia 1 |
|
Short humerus, Rhizomelia, Increased fibular diameter, Short neck, Limited knee flexion, Microgna... |
OMIM:258315 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteopenia, Osteomyelitis, Neutrophilia, Splenomegaly, Periostitis, Osteolysis, Fused cervical ve... |
OMIM:612852 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short metacarpal, Abnormal scapula morphology, Iliac crest serration, Accelerated skeletal matura... |
ORPHA:93317 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Thoracic hypoplasia, Metaphyseal spurs, Postaxial polydactyly, Lateral cl... |
OMIM:613091 |
Cardiomyopathy, Dilated, 1D |
|
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... |
OMIM:601494 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
Mucopolysaccharidosis, Type Ivb |
|
Epiphyseal deformities of tubular bones, Metaphyseal widening, Flaring of rib cage, Joint laxity,... |
OMIM:253010 |
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Short neck, Metaphyseal widening, Flexion contracture, Coxa vara, Metaphyseal cupping of metacarp... |
OMIM:300232 |
Combined Oxidative Phosphorylation Deficiency 39 |
|
Flexion contracture, Sinus bradycardia, Ankle clonus, Congenital contracture, Scoliosis, Type I d... |
OMIM:618397 |
Hypophosphatemic Bone Disease |
|
Rickets, Osteomalacia, Bowing of the legs |
OMIM:146350 |
Tetanus |
|
Hypertension, Tachycardia, Stiff neck, Bradycardia |
ORPHA:3299 |
Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Osteopenia, Hip contracture, Bowing of the long bones, Metaphyseal chondrodysplasia, Knee flexion... |
OMIM:156400 |
Autosomal Dominant Spondylocostal Dysostosis |
|
Short neck, Missing ribs, Hyperlordosis, Abnormal sacrum morphology, Short thorax, Abnormal rib m... |
ORPHA:1797 |
Fibrous Dysplasia Of Bone |
|
Abnormal morphology of the radius, Thin bony cortex, Cortical irregularity, Bowing of the long bo... |
ORPHA:249 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Elevated circulating alkaline phosphatase concentration |
OMIM:174050 |
Mucopolysaccharidosis, Type Iva |
|
Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening, Pectus carinatum, Ante... |
OMIM:253000 |
Becker Nevus Syndrome |
|
Lipoatrophy, Micromelia, Lower limb asymmetry, Pectus excavatum, Kyphosis, Abnormal tibia morphol... |
ORPHA:64755 |
Osteogenesis Imperfecta, Type Viii |
|
Osteopenia, Multiple prenatal fractures, Femoral bowing, Tibial bowing, Decreased skull ossificat... |
OMIM:610915 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Abnormal pelvic girdle bone morphology, Paget disease of bone, Lumbar hyperlordosis, Elevated alk... |
OMIM:167320 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Tachycardia, Maternal diabetes, Hyperinsulinemia, Hypoglycemic seizures, Syncope, Palpitations, F... |
ORPHA:276580 |
Aapoaiv Amyloidosis |
|
Back pain, Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Diabetes m... |
ORPHA:439232 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Osteopenia, Multiple rib fractures, Short femur, Fractured radius, Beaded ribs, Short neck, Multi... |
OMIM:616897 |
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Abnormality of alkaline phosphatase level, Short distal phalanx of toe, Bilateral triphalangeal t... |
OMIM:619356 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Postaxial polydactyly, Short neck, Lateral clavicle hook, Micrognathia, Preaxial polydactyly, Hyp... |
OMIM:617925 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Abnormal circulating enzyme concentration or... |
ORPHA:79303 |
Dermatosparaxis Ehlers-Danlos Syndrome |
|
Osteopenia, Joint dislocation, Osteomalacia, Joint stiffness, Coxa valga, Avascular necrosis of t... |
ORPHA:1901 |
Acro-Renal-Mandibular Syndrome |
|
Abnormal clavicle morphology, Hypoplasia of the ulna, Hypoplastic scapulae, Finger syndactyly, Co... |
ORPHA:958 |
Boudin-Mortier Syndrome |
|
Joint laxity, Mallet finger, Long toe, Elevated alkaline phosphatase of bone origin, Arachnodacty... |
OMIM:619543 |
Dysosteosclerosis |
|
Osteopenia, Sclerosis of hand bone, Micrognathia, Increased intervertebral space, Absent frontal ... |
OMIM:224300 |
Delta-Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
Cartilage-Hair Hypoplasia |
|
Metaphyseal widening, Coxa vara, Femoral bowing, Narrow chest, Short palm, Neutropenia, Joint lax... |
OMIM:250250 |
Amyotrophic Lateral Sclerosis 20 |
|
Elevated circulating alkaline phosphatase concentration |
OMIM:615426 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Increased mean corpuscular volume, Megaloblastic anemia |
OMIM:277410 |
Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Elevated hepatic transaminase, Intrahepatic cholestasis, Elevated circulating alkaline phosphatas... |
OMIM:619484 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Osteopenia, Short humerus, Increased bone mineral density, Bowing of the long bones, Recurrent fr... |
OMIM:239000 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Proximal placement of thumb, Micrognathia, Aplasia of the epiglottis, Clinodactyly of the 5th fin... |
OMIM:268305 |
Senior-Loken Syndrome 4 |
|
Polydipsia |
OMIM:606996 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Delayed skeletal maturation, Abnormal rib morphology, Abnormal epiphysis morphology, Neutropenia,... |
ORPHA:2643 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Broad hallux phalanx, Toe syndactyly, Short neck, Micrognathia, Kyphosis, Postaxial hand polydact... |
ORPHA:3082 |
Schneckenbecken Dysplasia |
|
Short neck, Lateral clavicle hook, Snail-like ilia, Narrow chest, Dumbbell-shaped long bone, Flat... |
OMIM:269250 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Elevated alkaline phosphatase of bone origin, Osteomalacia, Bowing of the legs, Reduced bone mine... |
ORPHA:157215 |
Lateral Meningocele Syndrome |
|
Vertebral fusion, Inguinal hernia, Short neck, Pectus excavatum, Kyphosis, Micrognathia, Keloids,... |
OMIM:130720 |
3M Syndrome |
|
Congenital hip dislocation, Micromelia, Short neck, Increased vertebral height, Enlarged thorax, ... |
ORPHA:2616 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric... |
OMIM:614021 |
Orofaciodigital Syndrome Ix |
|
Short tibia, Toe syndactyly, Hand polydactyly, Camptodactyly |
OMIM:258865 |
Osteogenesis Imperfecta, Type Xvi |
|
Osteopenia, Multiple rib fractures, Microretrognathia, Angulated humerus, Rhizomelia, Recurrent f... |
OMIM:616229 |
Multifocal Atrial Tachycardia |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Paroxysmal atrial tachycardia, Effort-induced p... |
ORPHA:3282 |
Laurin-Sandrow Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Talipes, A... |
ORPHA:2378 |
Achondrogenesis, Type Ia |
|
Abnormal femoral metaphysis morphology, Micromelia, Beaded ribs, Short neck, Abnormal hand bone o... |
OMIM:200600 |
Fibrochondrogenesis 2 |
|
Hypoplastic ischia, Micrognathia, Hypoplastic ilia, Cupped ribs, Metaphyseal widening, Hypoplasti... |
OMIM:614524 |
Cholestasis-Lymphedema Syndrome |
|
Elevated hepatic transaminase, Jaundice, Elevated circulating alkaline phosphatase concentration |
OMIM:214900 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis, Hypochromia, Anemia |
OMIM:615234 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Prolonged QRS complex, Left axis deviation, Congestive heart failure, ST segment elevation, Short... |
OMIM:261740 |
Bardet-Biedl Syndrome 9 |
|
Truncal obesity, Polydipsia, Polyphagia, Obesity |
OMIM:615986 |
Osteogenesis Imperfecta, Type Xviii |
|
Joint laxity, Thin bony cortex, Bowing of the long bones, Recurrent fractures, Joint hypermobilit... |
OMIM:617952 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Femoral bowing, Tibial bowing, Small... |
ORPHA:93356 |
Gollop-Wolfgang Complex |
|
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o... |
ORPHA:1986 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Hyperextensibility of the finger joints, Short neck, Micrognathia, Hemivertebrae, Narrow chest, V... |
OMIM:213980 |
Juberg-Hayward Syndrome |
|
Toe syndactyly, Short thumb, Abnormality of the elbow, Abnormal rib morphology, Abnormal finger m... |
ORPHA:2319 |
Peripartum Cardiomyopathy |
|
Ventricular tachycardia, Left bundle branch block, Pedal edema, Abnormal T-wave, Dilated cardiomy... |
ORPHA:563 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Recurrent fractures, Short neck, Micrognathia, Limitation of joint mobility, Abnormal rib morphol... |
ORPHA:1486 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Joint dislocation, Arthropathy, Genu recurvatum, Limited hip extension, Short neck, Flexion contr... |
OMIM:143095 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Microcytic anemia, Short neck, Micrognathia, Short toe, Flexion contracture, Pectus carinatum, Ta... |
ORPHA:98791 |
Acquired Methemoglobinemia |
|
Tachycardia, Syncope, Palpitations, Arrhythmia, Methemoglobinemia |
ORPHA:464453 |
Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy... |
OMIM:619897 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
11 pairs of ribs, Rhizomelia, Metaphyseal cupping of proximal phalanges, Thin ribs, Metaphyseal c... |
OMIM:300863 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Short neck, Micrognathia, Delayed proximal femoral epiphyseal ossification, Flexion contracture, ... |
OMIM:271640 |
Cenani-Lenz Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Abnormal dental enamel morphology, Mic... |
ORPHA:3258 |
Sepsis In Premature Infants |
|
Tachycardia, Thrombocytopenia, Leukocytosis, Splenomegaly, Bradycardia, Hypotension, Neutropenia,... |
ORPHA:90051 |
Laurin-Sandrow Syndrome |
|
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B... |
OMIM:135750 |
Kniest Dysplasia |
|
Enlarged joints, Short neck, Delayed epiphyseal ossification, Coxa vara, Tibial bowing, Genu varu... |
OMIM:156550 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Elevated hepatic transaminase, Intrahepatic cholestasis, Jaundice, Elevated circulating alkaline ... |
OMIM:235555 |
Cantú Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Ovoid vertebral bodies, Short hallux, Accelerated skelet... |
ORPHA:1517 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Abnormal trabecular bone morphology, Increased bone mineral density, Elevated alkaline phosphatas... |
ORPHA:289176 |
Hyperparathyroidism, Transient Neonatal |
|
Osteopenia, Wide cranial sutures, Short femur, Recurrent fractures, Metaphyseal spurs, Undulate r... |
OMIM:618188 |
Mosaic Trisomy 14 |
|
Camptodactyly of finger, Micrognathia, Short neck, Lower limb asymmetry, Abnormal rib morphology,... |
ORPHA:1703 |
Thoracolaryngopelvic Dysplasia |
|
Metaphyseal widening, Irregular chondrocostal junctions, Bell-shaped thorax, Irregular vertebral ... |
OMIM:187760 |
Mucopolysaccharidosis, Type Vi |
|
Metaphyseal widening, Flexion contracture, Pectus carinatum, Hypoplastic iliac wing, Broad ribs, ... |
OMIM:253200 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Postaxial polydactyly, Lateral clavicle hook, Bell-shaped thorax, Short long bone, Thoracic dyspl... |
OMIM:615633 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Rib segmentation abnormalities, Finger syndactyly, Inguinal hernia, Abnormal intervertebral disk ... |
ORPHA:2311 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Tachycardia, Limited hip extension, Flexion contracture, Retinal hemorrhage, Corneal scarring, Hy... |
OMIM:614653 |
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Osteopenia, Elevated circulating alkaline phosphatase concentration, Osteoporosis |
ORPHA:529665 |
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 |
Cyanosis, Transient Neonatal |
|
Reticulocytosis, Methemoglobinemia, Anemia |
OMIM:613977 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Osteopenia, Thoracic scoliosis, Short neck, Micrognathia, Vertebral segmentation defect, Rhizomel... |
OMIM:611209 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Arachnodactyly, Abnormal dental enamel morphology, Pectus excavatum, Kyphosis, ... |
ORPHA:96169 |
Kyphomelic Dysplasia |
|
Micromelia, Micrognathia, Lateral clavicle hook, Femoral bowing, Tibial bowing, Pterygium, Short ... |
OMIM:211350 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Pulmonary arterial hypertension, Inguinal hernia, Bradycardia |
OMIM:619272 |
Cooper-Jabs Syndrome |
|
Camptodactyly of finger, Congenital diaphragmatic hernia, Missing ribs, Proximal placement of thu... |
ORPHA:1488 |
Ivic Syndrome |
|
Aplastic clavicle, Joint stiffness, Preaxial hand polydactyly, Leukocytosis, Hypoplasia of the ra... |
ORPHA:2307 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Prominent metopic ridge, Sacral dimple, Pectus excavatum, Kyphosis, Hip disloca... |
OMIM:610443 |
Hb Bart'S Hydrops Fetalis |
|
Pericarditis, Abnormal hemoglobin, Splenomegaly, Congestive heart failure, Anemia |
ORPHA:163596 |
Acro-Renal-Ocular Syndrome |
|
Vertebral fusion, Hypoplasia of the ulna, Finger syndactyly, Broad hallux phalanx, Toe syndactyly... |
ORPHA:959 |
Lujo Hemorrhagic Fever |
|
Shock, Stiff neck, Myocarditis, Leukocytosis, Subconjunctival hemorrhage, Leukopenia, Bradycardia... |
ORPHA:319213 |
Multiple Synostoses Syndrome 1 |
|
Hypoplastic spinal processes, Symphalangism affecting the phalanges of the hand, Cutaneous finger... |
OMIM:186500 |
Mucopolysaccharidosis, Type Iiia |
|
Inguinal hernia, Thickened ribs, Joint stiffness, Splenomegaly, Ovoid thoracolumbar vertebrae, As... |
OMIM:252900 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Stenosis of the medullary cavity of the long bones, Thin clavicles, Delayed skeletal maturation, ... |
ORPHA:93324 |
Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia |
ORPHA:846 |
Nephronophthisis-Like Nephropathy 2 |
|
Polydipsia |
OMIM:619468 |
Specific Granule Deficiency 1 |
|
Low neutrophil alkaline phosphatase |
OMIM:245480 |
Kbg Syndrome |
|
Vertebral fusion, Syndactyly, Short neck, Delayed skeletal maturation, Rib fusion, Vertebral arch... |
OMIM:148050 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Distal symphalangism, Coxa vara, Tibial bowing, Narrow chest, Hypoplastic iliac wing, Clinodactyl... |
OMIM:210720 |
Poland Syndrome |
|
Syndactyly, Unilateral oligodactyly, Rib fusion, Hemivertebrae, Unilateral brachydactyly, Short r... |
OMIM:173800 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
Ophthalmomandibulomelic Dysplasia |
|
Radial bowing, Coxa valga, Elbow dislocation, Abnormal thorax morphology, Ulnar deviated club han... |
OMIM:164900 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Short neck, Vertebral clefting, Rib fusion, Hemivertebrae, Vertebral segmentation defect |
OMIM:608681 |
Myhre Syndrome |
|
Vertebral fusion, Overlapping toe, Short neck, Joint stiffness, Hypoplastic iliac wing, Clinodact... |
OMIM:139210 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
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 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala... |
ORPHA:79302 |
Mesomelic Dysplasia, Savarirayan Type |
|
Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Elbow dislocation, H... |
ORPHA:85170 |
Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Elevated circulating alkaline phosphatase concentration, Intrahepatic cholestasis, Jaundice |
OMIM:605479 |
Faciodigitogenital Syndrome, Autosomal Recessive |
|
Vertebral fusion, Inguinal hernia, Syndactyly, Down-sloping shoulders, Pectus excavatum, Metatars... |
OMIM:227330 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi... |
OMIM:263300 |
Stapes Ankylosis With Broad Thumbs And Toes |
|
Toe syndactyly, Broad hallux, Proximal/middle symphalangism of 5th finger, Fused cervical vertebr... |
OMIM:184460 |
Loeys-Dietz Syndrome 6 |
|
Arachnodactyly, Knee osteoarthritis, Scoliosis, Hip osteoarthritis, Intervertebral disc degeneration |
OMIM:619656 |
Fibrochondrogenesis |
|
Omphalocele, Hypoplastic scapulae, Camptodactyly of finger, Micromelia, Short neck, Abnormal rib ... |
ORPHA:2021 |
Cleidocranial Dysplasia |
|
Micrognathia, Coxa vara, Narrow chest, Hypoplastic inferior ilia, Clinodactyly of the 5th finger,... |
ORPHA:1452 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Inguinal hernia, Micrognathia, Thrombocytopenia, Delayed skeletal maturation, Bell-shaped thorax,... |
OMIM:614857 |
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
|
Hypoplastic distal segments of scapulae, Micrognathia, Pectus excavatum, Abnormal rib morphology,... |
OMIM:602196 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Tricuspid regurgitation, Congenital diaphragmatic hernia, Proximal placement of thumb, Abnormal t... |
ORPHA:1120 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Increased bone mineral density, Broad femoral neck, Micrognathia, Short tubular bones... |
ORPHA:85184 |
Osteogenesis Imperfecta |
|
Osteopenia, Cervical kyphosis, Micromelia, Micrognathia, Osteoarthritis, Flexion contracture, Bon... |
ORPHA:666 |
Sprengel Deformity |
|
Rib segmentation abnormalities, Cervical segmentation defect, Hemivertebrae, Scoliosis, Sprengel ... |
OMIM:184400 |
D-Glyceric Aciduria |
|
Hypoglycemia, Bradycardia |
OMIM:220120 |
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Elbow dislocation, Radial head s... |
ORPHA:2634 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Short neck, Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Abnorm... |
ORPHA:2234 |
Schwartz-Jampel Syndrome |
|
Micromelia, Short neck, Micrognathia, Coxa vara, Pectus carinatum, Sprengel anomaly, Wrist flexio... |
ORPHA:800 |
Lamb-Shaffer Syndrome |
|
Micrognathia, Fused cervical vertebrae, Hip dysplasia, Thoracic kyphosis, Scoliosis |
ORPHA:530983 |
Nestor-Guillermo Progeria Syndrome |
|
Limited elbow movement, Micrognathia, Flexion contracture, Rib osteolysis, Microretrognathia, Ost... |
OMIM:614008 |
Gm1-Gangliosidosis, Type I |
|
Beaking of vertebral bodies, Inguinal hernia, Thickened ribs, Short neck, Joint stiffness, Conges... |
OMIM:230500 |
Saul-Wilson Syndrome |
|
Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Micrognathia, Pectus ex... |
OMIM:618150 |
Dent Disease 1 |
|
Enlargement of the ankles, Bulging epiphyses, Recurrent fractures, Osteomalacia, Bowing of the le... |
OMIM:300009 |
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
|
Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia... |
ORPHA:988 |
Primary Familial Polycythemia |
|
Abnormal hemoglobin, Polycythemia, Epistaxis |
ORPHA:90042 |
Glossopharyngeal Neuralgia |
|
Abnormality of the cervical spine, Syncope, Jaw claudication, Bradycardia |
ORPHA:221098 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Ulnar deviation of the wrist, Elbow contracture, 2-3 toe syndactyly, Knee flexion contracture, Ir... |
OMIM:618162 |
Renpenning Syndrome |
|
Diabetes mellitus, Joint stiffness, Pectus excavatum, Abnormal thumb morphology, Abnormal rib mor... |
ORPHA:3242 |
Fanconi Renotubular Syndrome 1 |
|
Elevated circulating alkaline phosphatase concentration, Rickets, Osteomalacia |
OMIM:134600 |
Phaver Syndrome |
|
Broad hallux phalanx, Camptodactyly of finger, Joint stiffness, Short thumb, Abnormal rib morphol... |
ORPHA:2876 |
Fanconi-Bickel Syndrome |
|
Osteopenia, Bowing of the long bones, Elevated circulating aspartate aminotransferase concentrati... |
ORPHA:2088 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, First degree atrioventricular block, Heart block, Ventricular tac... |
ORPHA:216694 |
Elliptocytosis 3 |
|
Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia |
OMIM:617948 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Recurrent fractures, Micromelia, Abnormal rib morphology, Joint hyperflexibility, Decreased calva... |
ORPHA:2772 |
White Forelock With Malformations |
|
Finger syndactyly, Delayed skeletal maturation, Abnormal rib morphology, Joint hyperflexibility, ... |
ORPHA:2475 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3 |
|
Elevated circulating alkaline phosphatase concentration |
OMIM:615424 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Abnormal epiphysis morphology, Umbilical hernia, Delayed proximal femoral epiphyseal ossification... |
ORPHA:90673 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Thoracic scoliosis, Short neck, Micrognathia, Generalized joint laxity, Thoracic kyphosis, Hyperm... |
ORPHA:508498 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Anisopoikilocytosis, Reticulocytopenia, Hepatosplenomegaly, Decreased mean corpuscular volume, Dy... |
ORPHA:300298 |
Mosaic Trisomy 20 |
|
Vertebral fusion, Down-sloping shoulders, Micrognathia, Kyphosis, Spinal canal stenosis, Fused ce... |
ORPHA:1724 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Short tibia, Tricuspid regurgitation, Talipes equinovarus, Short femur |
OMIM:620306 |
Congenital Disorder Of Glycosylation, Type Iij |
|
Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration, Hepatic f... |
OMIM:613489 |
Acrorenal-Mandibular Syndrome |
|
Congenital diaphragmatic hernia, Micrognathia, Hemivertebrae, Narrow chest, Hypoplasia of the uln... |
OMIM:200980 |
Vascular Malformation, Primary Intraosseous |
|
Elevated circulating alkaline phosphatase concentration |
OMIM:606893 |
Mucopolysaccharidosis, Type Iiic |
|
Thickened ribs, Kyphoscoliosis, Joint stiffness, Splenomegaly, Ovoid thoracolumbar vertebrae, Asy... |
OMIM:252930 |
Mucopolysaccharidosis, Type X |
|
Aortic regurgitation, Beaking of vertebral bodies, Irregular acetabular roof, Spatulate ribs, Bro... |
OMIM:619698 |
Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Micrognathia, Abnormal thorax morphology, Metaphyseal widening, Abnormal form of the vertebral bo... |
ORPHA:73230 |
Fanconi Anemia, Complementation Group I |
|
Short neck, Absent thumb, Short thumb, Hypoplasia of the radius, Fused cervical vertebrae, Neutro... |
OMIM:609053 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Sandal gap, Abnormal dental enamel morphology, Abnormal rib morphology, Hemivertebrae, Abnormal f... |
ORPHA:2180 |
Glycosylphosphatidylinositol Biosynthesis Defect 11 |
|
Elevated circulating alkaline phosphatase concentration |
OMIM:616025 |
Bohring-Opitz Syndrome |
|
Joint dislocation, Prominent metopic ridge, Ulnar deviation of the wrist, Micrognathia, Pectus ex... |
ORPHA:97297 |
Neuroleptic Malignant Syndrome |
|
Tachycardia, Pulmonary embolism, Thrombocytopenia, Leukocytosis, Hypertension, Bradycardia, Hypot... |
ORPHA:94093 |
Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Polydipsia, Failure to thrive |
OMIM:125800 |
Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Polydipsia, Failure to thrive |
OMIM:304800 |
Kagami-Ogata Syndrome |
|
Omphalocele, Inguinal hernia, Long clavicles, Kyphoscoliosis, Micrognathia, Coxa valga, Splenomeg... |
OMIM:608149 |
Acromelic Frontonasal Dysostosis |
|
Tubulonodular pericallosal lipoma, Syndactyly, Preaxial polydactyly, Preaxial foot polydactyly, P... |
OMIM:603671 |
Marburg Hemorrhagic Fever |
|
Shock, Back pain, Tachycardia, Pericarditis, Reticulocytosis, Lymphopenia, Hypoglycemia, Hypovole... |
ORPHA:99826 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Stiff neck, Abnormal left ventricular function, Leukopenia, Internal hemorrh... |
ORPHA:99827 |
Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Short hallux, Aplasia of the 3rd finger, Split hand, Patellar aplasia, Hand monodactyly, Split fo... |
OMIM:119100 |
Congenital Heart Defects, Multiple Types, 3 |
|
Tachycardia, Atrial fibrillation, Atrioventricular block, Right bundle branch block, Atrioventric... |
OMIM:614954 |
Congenital Disorder Of Glycosylation, Type Im |
|
Dilated cardiomyopathy, Bradycardia, Hypoketotic hypoglycemia |
OMIM:610768 |
Familial Cold Urticaria |
|
Polydipsia |
ORPHA:47045 |
Aggressive Systemic Mastocytosis |
|
Portal hypertension, Osteoporosis, Osteolysis, Elevated circulating alkaline phosphatase concentr... |
ORPHA:98850 |
Acromesomelic Dysplasia 2B |
|
Short metacarpal, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Absent toe, Short meta... |
OMIM:228900 |
Cole-Carpenter Syndrome |
|
Crumpled long bones, Bowing of the long bones, Recurrent fractures, Abnormal dental enamel morpho... |
ORPHA:2050 |
Aicardi Syndrome |
|
Block vertebrae, Missing ribs, Hiatus hernia, Rib fusion, Small hand, Multiple lipomas, Hip dyspl... |
ORPHA:50 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Arachnodactyly, Missing ribs, Abnormal rib morphology, Hemivertebrae, Abnormal form of the verteb... |
ORPHA:2759 |
Sheehan Syndrome |
|
Orthostatic hypotension, Hypoglycemia, Normochromic anemia, Palpitations, Bradycardia |
ORPHA:91355 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Micromelia, Short neck, Micrognathia, Bowing of the legs, Pectus carinatum, Knee flexion contract... |
OMIM:271665 |
Developmental And Epileptic Encephalopathy 95 |
|
Joint laxity, Short fourth metatarsal, Multiple joint contractures, Brachydactyly, Low alkaline p... |
OMIM:618143 |
Encephalitis Lethargica |
|
Limb pain, Stiff neck, Bradycardia |
ORPHA:83600 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Delayed skeletal maturation, Delayed proximal femoral epiphyseal ossification, Bradycardia, Abnor... |
ORPHA:90674 |
Craniosynostosis, Herrmann-Opitz Type |
|
Finger syndactyly, Craniosynostosis, Micrognathia, Micromelia, Split hand, Abnormal rib morpholog... |
ORPHA:2145 |
Spondylometaphyseal Dysplasia, Algerian Type |
|
Metaphyseal dysplasia, Lumbar hyperlordosis, Bowed humerus, Anterior rib cupping, Kyphoscoliosis,... |
OMIM:184253 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Elevated circulating aspartate aminotransferase concentration, Portal hype... |
OMIM:278000 |
Wildervanck Syndrome |
|
Fused cervical vertebrae |
OMIM:314600 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Hip contracture, Interphalangeal joint contracture of finger, Ankle flexion contracture, Kyphosco... |
ORPHA:1145 |
Familial Osteodysplasia, Anderson Type |
|
Recurrent fractures, Aplastic clavicle, Missing ribs, Elbow dislocation, Kyphosis, Abnormal rib m... |
ORPHA:2769 |
Duane-Radial Ray Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Radial deviation of the hand, Pes planus, Sandal gap, Short h... |
OMIM:607323 |
Shashi-Pena Syndrome |
|
Short metacarpal, Hypoglycemia, Accelerated skeletal maturation, Kyphosis, Osteoporosis, Scoliosi... |
OMIM:617190 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Elevated circulating alkaline phosphatase concentration, Shortening of all distal phalanges of th... |
OMIM:615716 |
Mucopolysaccharidosis, Type Vii |
|
Spatulate ribs, Short neck, Accelerated skeletal maturation, Flexion contracture, Pectus carinatu... |
OMIM:253220 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Bradycardia |
OMIM:608800 |
Mucolipidosis Iii Alpha/Beta |
|
Aortic regurgitation, Soft tissue swelling of interphalangeal joints, Craniosynostosis, Irregular... |
OMIM:252600 |
Stiff-Person Syndrome |
|
Tachycardia, Diabetes mellitus, Lumbar hyperlordosis, Hypertension, Anemia |
OMIM:184850 |
Antley-Bixler Syndrome |
|
Arachnodactyly, Recurrent fractures, Craniosynostosis, Joint stiffness, Camptodactyly of finger, ... |
ORPHA:83 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Elevated circulating aspartate aminotransferase concentration, Intrahepatic cholestasis, Jaundice... |
OMIM:613812 |
Cog4-Cdg |
|
Elevated hepatic transaminase, Fatal liver failure in infancy, Elevated circulating alkaline phos... |
ORPHA:263501 |
Mucopolysaccharidosis Type 6 |
|
Epiphyseal dysplasia, Ovoid vertebral bodies, Joint stiffness, Short neck, Kyphosis, Splenomegaly... |
ORPHA:583 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Omphalocele, Syndactyly, Thoracic hypoplasia, Micromelia, Postaxial polydactyly, Lateral clavicle... |
OMIM:617895 |
Osteofibrous Dysplasia, Susceptibility To |
|
Pectus excavatum, Pathologic fracture, Pseudoarthrosis, Fibular hypoplasia |
OMIM:607278 |
Axial Mesodermal Dysplasia Spectrum |
|
Omphalocele, Abnormality of the knee, Congenital diaphragmatic hernia, Short neck, Missing ribs, ... |
ORPHA:1834 |
Acromesomelic Dysplasia 3 |
|
Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Delayed skeletal maturation, Short toe,... |
OMIM:609441 |
Mucopolysaccharidosis, Type Iiib |
|
Thickened ribs, Joint stiffness, Splenomegaly, Ovoid thoracolumbar vertebrae, Asymmetric septal h... |
OMIM:252920 |
Teratoma, Pineal |
|
Polydipsia |
OMIM:273120 |
Meier-Gorlin Syndrome 1 |
|
Genu recurvatum, Micrognathia, Lateral clavicle hook, Flat glenoid fossa, Flexion contracture, He... |
OMIM:224690 |
Graft Versus Host Disease |
|
Elevated hepatic transaminase, Dupuytren contracture, Acute hepatitis, Limited elbow movement, Ja... |
ORPHA:39812 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Short neck, Aplasia/hypoplasia of the extremities, Hemivertebrae, Pectus carinatum, Femoral bowin... |
OMIM:276820 |
Femoral-Facial Syndrome |
|
Short fourth metatarsal, Limited elbow movement, Maternal diabetes, Micrognathia, Hemivertebrae, ... |
OMIM:134780 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Ovoid vertebral bodies, ... |
ORPHA:85167 |
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis |
|
Cervical C2/C3 vertebral fusion, Talipes equinovarus, Joint hypermobility, Camptodactyly |
OMIM:617333 |
Microphthalmia With Limb Anomalies |
|
Sacral dimple, Toe syndactyly, Sandal gap, Capitate-hamate fusion, 2-3 toe cutaneous syndactyly, ... |
OMIM:206920 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration, Rickets |
OMIM:616026 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Intrahepatic cholestasis, Jaundice, Rickets,... |
OMIM:607765 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Joint laxity, Elevated circulating aspartate aminotransferase concentration, Intrahepatic cholest... |
OMIM:617093 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Elevated circulating aspartate aminotransferase concentration, Portal hypertension, Jaundice, Ele... |
OMIM:619662 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Osteopenia, Genu recurvatum, Micrognathia, Lateral clavicle hook, Metaphyseal widening, Pectus ca... |
OMIM:182212 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Anisocytosis, Decreased mean corpuscular volume, Elliptocytosis, Poikilocytosis, Anemia |
OMIM:616959 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Hypoglycemia, Short neck, Delayed proximal femoral epiphyseal ossification, Hand polydactyly, Bra... |
ORPHA:226307 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Osteopenia, Arachnodactyly, Pectus excavatum, Delayed skeletal maturation, Thin metacarpal cortic... |
ORPHA:2463 |
Hurler Syndrome |
|
Abnormal clavicle morphology, Angina pectoris, Camptodactyly of finger, Short neck, Splenomegaly,... |
ORPHA:93473 |
Cole-Carpenter Syndrome 2 |
|
Osteopenia, Microretrognathia, Wide cranial sutures, Recurrent fractures, Pectus excavatum, Kypho... |
OMIM:616294 |
Aicardi Syndrome |
|
Block vertebrae, Proximal placement of thumb, Missing ribs, Hiatus hernia, Hemivertebrae, Rib fus... |
OMIM:304050 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Second degree atrioventricular block, Syncope, Palpitations, Sinus bradycardia |
OMIM:616812 |
Seckel Syndrome 1 |
|
11 pairs of ribs, Pes planus, Pancytopenia, Ivory epiphyses, Sandal gap, Abnormal finger flexion ... |
OMIM:210600 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Osteopenia, Tricuspid regurgitation, Sandal gap, Elevated hemoglobin A1c, Joint stiffness, Pectus... |
OMIM:619127 |
Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Tachycardia, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilo... |
ORPHA:35858 |
Robinow Syndrome |
|
Fused thoracic vertebrae, Syndactyly, Brachydactyly, Kyphoscoliosis, Missing ribs, Micrognathia, ... |
ORPHA:97360 |
Campomelic Dysplasia |
|
11 pairs of ribs, Poorly ossified cervical vertebrae, Bowing of the long bones, Small abnormally ... |
ORPHA:140 |
Wolf-Hirschhorn Syndrome |
|
Micrognathia, Abnormal form of the vertebral bodies, Accessory spleen, Vertebral fusion, Pseudoep... |
OMIM:194190 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Lateral clavicle hook, Early ossification of capital femoral epiphyses, C... |
OMIM:208500 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Cervical kyphosis, Hypoplastic cervical vertebrae, Vertebral hypoplasia, Calcaneal epiphyseal sti... |
ORPHA:79345 |
Frontometaphyseal Dysplasia 2 |
|
Hip contracture, Short metacarpal, Congenital hip dislocation, Ulnar deviation of the hand, Elbow... |
OMIM:617137 |
Microphthalmia, Syndromic 3 |
|
Vertebral fusion, Missing ribs, Rib fusion, Hemivertebrae, Supernumerary ribs, Butterfly vertebra... |
OMIM:206900 |
Familial Congenital Mirror Movements |
|
Fused cervical vertebrae |
ORPHA:238722 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Rhizomelia, Micrognathia, Hypoplastic iliac wing, Metaphyseal chondrodysplasia, Abnormality of th... |
ORPHA:163966 |
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Aplasia/Hypoplasia of the distal phalanges of the toes, Tachycardia, Syncope, Premature ventricul... |
OMIM:192445 |
Acrofacial Dysostosis, RodrÃguez Type |
|
Microretrognathia, Finger syndactyly, Hand oligodactyly, Abnormal form of the vertebral bodies, F... |
ORPHA:1788 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Inguinal hernia, Arachnodactyly, Congenital diaphragmatic hernia, Micrognathia, Pectus excavatum,... |
OMIM:614437 |
Castleman Disease |
|
Myelofibrosis, Anemia, Decreased mean corpuscular volume, Restrictive cardiomyopathy, Thrombocyto... |
ORPHA:160 |
Duane Retraction Syndrome |
|
Aplasia/Hypoplasia of the thumb, Short neck, Micrognathia, Absent radius, Preaxial hand polydacty... |
ORPHA:233 |
Apert Syndrome |
|
Limited elbow movement, Delayed epiphyseal ossification, Pectus carinatum, Cutaneous finger synda... |
OMIM:101200 |
Cystinosis |
|
Polydipsia, Failure to thrive, Abnormal repetitive mannerisms |
ORPHA:213 |
Osteogenesis Imperfecta, Type Xv |
|
Recurrent fractures, Thin ribs, Platyspondyly, Bowing of limbs due to multiple fractures, Scolios... |
OMIM:615220 |
10Q22.3Q23.3 Microduplication Syndrome |
|
Microretrognathia, Abnormal clavicle morphology, Abnormal rib morphology |
ORPHA:276422 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Tachycardia, Neutrophilia, Eosinophilia, Splenomegaly,... |
ORPHA:98849 |
Fanconi-Bickel Syndrome |
|
Elevated circulating aspartate aminotransferase concentration, Osteomalacia, Intrahepatic cholest... |
OMIM:227810 |
Van Den Ende-Gupta Syndrome |
|
Glenoid fossa hypoplasia, Micrognathia, Lateral clavicle hook, 2-3 toe cutaneous syndactyly, Narr... |
OMIM:600920 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Elevated hepatic transaminase, Hepatic failure, Elevated alkaline phosphatase of bone origin, Pro... |
OMIM:616828 |
Orofaciodigital Syndrome Type 2 |
|
Finger syndactyly, Broad hallux, Micrognathia, Short tibia, Adactyly, Broad first metatarsal, Pos... |
ORPHA:2751 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Elevated hepatic transaminase, Postaxial polydactyly, Elevated circulating alkaline phosphatase c... |
OMIM:614576 |
Occipital Horn Syndrome |
|
Persistent open anterior fontanelle, Pectus carinatum, Narrow chest, Broad ribs, Joint laxity, Pe... |
OMIM:304150 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hemolytic anemia, Reticulocytosis, Anisocytosis, Pectus excavatum, Leukocytosis, Hepatosplenomega... |
OMIM:618278 |
Nephrogenic Diabetes Insipidus |
|
Polydipsia, Failure to thrive, Anorexia |
ORPHA:223 |
Ochoa Syndrome |
|
Polydipsia |
ORPHA:2704 |
Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Scapular winging, Lumbar hyperlordosis, Pectus carinatum, Lumbar scoliosis, Cervical C2/C3 verteb... |
OMIM:617796 |
Premature Aging Syndrome, Penttinen Type |
|
Hyperextensibility of the knee, Micrognathia, Palmoplantar hyperkeratosis, Tibial bowing, Short p... |
OMIM:601812 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Intrahepatic cholestasis, Elevated circulating alkaline phosphatase concentration, Intermittent j... |
OMIM:601847 |
Wildervanck Syndrome |
|
Fused cervical vertebrae, Short neck |
ORPHA:3456 |
Campomelic Dysplasia |
|
Thoracic scoliosis, Cervical kyphosis, Anterior tibial bowing, Micrognathia, Delayed epiphyseal o... |
OMIM:114290 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Flexion contracture, Femoral bowing, Narrow chest, Abnormality of the wrist, Elbow ankylosis, Abn... |
ORPHA:95699 |
Xylt1-Cdg |
|
Joint dislocation, Joint laxity, Pes planus, Accelerated skeletal maturation, Coxa valga, Flared ... |
ORPHA:370930 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Vertebral segmentation defect, Abnormal rib morphology, Short neck |
ORPHA:2578 |
Alagille Syndrome |
|
Hypoplasia of the ulna, Telangiectasia of the skin, Micrognathia, Delayed skeletal maturation, Ab... |
ORPHA:52 |
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
|
Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Popliteal pterygiu... |
OMIM:119800 |
Achondrogenesis, Type Ii |
|
Barrel-shaped chest, Absent vertebral body mineralization, Microretrognathia, Broad long bones, S... |
OMIM:200610 |
Axial Osteomalacia |
|
Increased bone mineral density, Osteomalacia |
OMIM:109130 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Osteopenia, Jaundice, Rickets, Intrahepatic cholestasis with episodic jaundice |
OMIM:211600 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Craniofacial hyperostosis, Hyperlordosis, Delayed skeletal maturation, Limitation of joint mobili... |
ORPHA:3068 |
Three M Syndrome 2 |
|
Scapular winging, Lumbar hyperlordosis, Short neck, Hyperlordosis, Delayed skeletal maturation, S... |
OMIM:612921 |
Cousin Syndrome |
|
Short neck, Micrognathia, Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of th... |
OMIM:260660 |
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Persistence of hemoglobin F, Anterior concavity of thoracic vertebrae, Joint hypermobility, Micro... |
OMIM:617101 |
Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Increased fibular diameter, Micromelia, Short neck, Lateral clavicle hook, ... |
ORPHA:3144 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Pedal edema, Sinus bradycardia |
OMIM:126320 |
Sifrim-Hitz-Weiss Syndrome |
|
Tapered finger, Flat acetabular roof, Fused cervical vertebrae, Short clavicles, Short femoral ne... |
OMIM:617159 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Craniosynostosis, Micrognathia, Thin ribs, Slender long bone, Decreased calvarial ossification, A... |
OMIM:618265 |
Yellow Fever |
|
Shock, Low back pain, Neutrophilia, Supraventricular arrhythmia, Hematemesis, Leukocytosis, Capil... |
ORPHA:99829 |
Lethal Congenital Contracture Syndrome 10 |
|
Omphalocele, Thoracic scoliosis, Stiff neck, Overlapping fingers, Short neck, Micrognathia, Femor... |
OMIM:617022 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Hypophosphatemic rickets, Elevated circulating alkaline phosphatase concentration, Elevated hepat... |
ORPHA:263455 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
|
Left unicoronal synostosis, Elevated circulating alkaline phosphatase concentration, Broad hallux... |
OMIM:614749 |
Familial Hyperaldosteronism Type I |
|
Polydipsia |
ORPHA:403 |
Omodysplasia 2 |
|
Short humerus, Micrognathia, Short 1st metacarpal, Fibular hypoplasia, Limited elbow flexion/exte... |
OMIM:164745 |
Osteogenesis Imperfecta, Type Vii |
|
Osteopenia, Multiple rib fractures, Wide cranial sutures, Crumpled long bones, Rhizomelia, Recurr... |
OMIM:610682 |
Mosaic Trisomy 8 |
|
Camptodactyly of finger, Short neck, Micrognathia, Limitation of joint mobility, Abnormal rib mor... |
ORPHA:96061 |
Xq12-Q13.3 Duplication Syndrome |
|
Cutaneous finger syndactyly, Low alkaline phosphatase, 2-3 toe syndactyly |
ORPHA:314389 |
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly |
OMIM:228250 |
Bardet-Biedl Syndrome 17 |
|
Polydipsia, Obesity |
OMIM:615994 |
Apparent Mineralocorticoid Excess |
|
Polydipsia, Failure to thrive |
ORPHA:320 |
Ventricular Fibrillation, Paroxysmal Familial, 1 |
|
Tachycardia, Syncope, Ventricular fibrillation |
OMIM:603829 |
Renal Tubular Acidosis Iii |
|
Rickets, Osteomalacia |
OMIM:267200 |
Cat-Eye Syndrome |
|
Hip dysplasia, Abnormal rib morphology |
ORPHA:195 |
Coronary Arterial Fistula |
|
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect... |
ORPHA:2041 |
Pediatric-Onset Graves Disease |
|
Failure to thrive, Hyperactivity, Polydipsia, Polyphagia |
ORPHA:525731 |
Cardiospondylocarpofacial Syndrome |
|
Joint laxity, Tarsal synostosis, Congenital diaphragmatic hernia, Delayed skeletal maturation, Ri... |
OMIM:157800 |
Caffey Disease |
|
Joint hypermobility, Bowing of the legs, Periosteal thickening of long tubular bones, Tibial bowi... |
OMIM:114000 |
Alpha-Mannosidosis, Infantile Form |
|
Osteopenia, Thickened ribs, Short neck, Pectus carinatum, Cortical thickening of long bone diaphy... |
ORPHA:309282 |
Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
|
Slender long bone, Abnormal pelvic girdle bone morphology, Abnormal rib morphology |
ORPHA:1506 |
Aspergillosis |
|
Osteomyelitis, Eosinophilia, Abnormal rib morphology, Intracranial hemorrhage, Abnormal long bone... |
ORPHA:1163 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Finger syndactyly, Prominent metopic ridge, Inguinal hernia, Arachnodactyly, Camptodactyly of fin... |
ORPHA:2215 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Abnormal fingertip morphology, Dilated cardiomyopathy, Osteoporosis, Bradycardia, Mitten deformit... |
ORPHA:79404 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Splenomegaly, Congestive heart failure, Tachycardia, Autoimmune hemolytic anemia |
ORPHA:90037 |
Rh Deficiency Syndrome |
|
Hemolytic anemia, Tachycardia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Spherocytosis, H... |
ORPHA:71275 |
Weill-Marchesani Syndrome 2 |
|
Short metatarsal, Broad ribs, Broad metacarpals, Short metacarpal, Lumbar hyperlordosis, Delayed ... |
OMIM:608328 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Persistent open anterior fontanelle, Elevated circulating aspartate aminotransferase concentratio... |
OMIM:614866 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Pectus excavatum, Fused cervical vertebrae, Sprengel anomaly, Spina bifida occulta, Butterfly ver... |
OMIM:619227 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Tapered finger, Short toe, Elevated circulating alkaline phosphatase concentration, Delayed ossif... |
OMIM:239300 |
Oculocerebrocutaneous Syndrome |
|
Finger syndactyly, Congenital hip dislocation, Talipes, Congenital diaphragmatic hernia, Missing ... |
ORPHA:1647 |
Pyknoachondrogenesis |
|
Craniofacial hyperostosis, Abnormal intramembranous ossification, Micromelia, Short iliac bones, ... |
ORPHA:3003 |
Apert Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Micromelia, Cervical C5/C6 ve... |
ORPHA:87 |
Autosomal Recessive Malignant Osteopetrosis |
|
Bowing of the long bones, Recurrent fractures, Craniosynostosis, Splenomegaly, Bone pain, Abnorma... |
ORPHA:667 |
Ellis-Van Creveld Syndrome |
|
Hypoplastic iliac wing, Capitate-hamate fusion, Postaxial hand polydactyly, Pectus carinatum, Gen... |
OMIM:225500 |
Hyperphosphatasia-Intellectual Disability Syndrome |
|
Shortening of all distal phalanges of the fingers, Elevated circulating alkaline phosphatase conc... |
ORPHA:247262 |
Trichohepatoneurodevelopmental Syndrome |
|
Joint laxity, Overlapping toe, Hip dislocation, Short foot, Elevated circulating alkaline phospha... |
OMIM:618268 |
Trisomy 13 |
|
Kyphosis, Postaxial hand polydactyly, Abnormal rib morphology, Abnormal pelvic girdle bone morpho... |
ORPHA:3378 |
Estrogen Resistance Syndrome |
|
Osteopenia, Delayed epiphyseal ossification, Osteoporosis, Elevated tissue non-specific alkaline ... |
ORPHA:785 |
Infantile Systemic Hyalinosis |
|
Osteopenia, Recurrent fractures, Osteomalacia, Camptodactyly of finger, Joint stiffness, Osteopor... |
ORPHA:2176 |
Gallbladder Disease 1 |
|
Elevated hepatic transaminase, Jaundice, Elevated circulating alkaline phosphatase concentration |
OMIM:600803 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Shortening of all distal phalanges of the fingers, Elevated circulating alkaline phosphatase conc... |
OMIM:614207 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Kyphoscoliosis, Tapered finger, Absent frontal sinuses, Kyphosis, Coxa valga, Reduced alpha/beta ... |
OMIM:301040 |
Lymphangiectasia, Intestinal |
|
Lymphopenia, Prominent floating ribs, Pedal edema |
OMIM:152800 |
Dextrocardia |
|
Abnormal EKG, Congenital hip dislocation, Abnormality of the spleen, Abnormal foot morphology, Ab... |
ORPHA:1666 |
Faciocardiomelic Dysplasia, Lethal |
|
Hypoplasia of the ulna, Radial deviation of the hand, Talipes, Micrognathia, Short thumb, Hypopla... |
OMIM:227270 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Joint laxity, Omphalocele, Inguinal hernia, Long toe, Overlapping toe, Pectus excavatum, Flexion ... |
ORPHA:254528 |
Short-Rib Thoracic Dysplasia 12 |
|
Omphalocele, Inguinal hernia, Hypoplastic scapulae, Short neck, Bowing of the legs, Splenomegaly,... |
OMIM:269860 |
Mucopolysaccharidosis, Type Iiid |
|
Epiphyseal dysplasia, Thoracic scoliosis, Thickened ribs, Pilonidal sinus, Inguinal hernia, Short... |
OMIM:252940 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Vertebral fusion, Abnormal sacrum morphology, Abnormal form of the vertebral bodies, Vertebral se... |
ORPHA:3109 |
Hereditary Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:621 |
Prune Belly Syndrome |
|
Congenital hip dislocation, Pectus excavatum, Abnormal rib morphology, Vertebral segmentation def... |
ORPHA:2970 |
Septopreoptic Holoprosencephaly |
|
Abnormal rib morphology, Abnormal vertebral morphology |
ORPHA:280195 |
Cystic Echinococcosis |
|
Elevated hepatic transaminase, Jaundice, Bone cyst, Elevated circulating alkaline phosphatase con... |
ORPHA:400 |
Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Elbow contracture, Short neck, Micrognathia, Short metatarsal, Femora... |
OMIM:304120 |
Lathosterolosis |
|
Elevated hepatic transaminase, Toe syndactyly, Intrahepatic cholestasis, Postaxial hand polydacty... |
OMIM:607330 |
Hypercholanemia, Familial 1 |
|
Rickets |
OMIM:607748 |
Holzgreve Syndrome |
|
Abnormally ossified vertebrae, Abnormal morphology of ulna, Joint stiffness, Abnormal rib morphol... |
ORPHA:2167 |
Hyperaldosteronism, Familial, Type Iii |
|
Polydipsia |
OMIM:613677 |
Campomelia, Cumming Type |
|
Abnormally ossified vertebrae, Bowing of the long bones, Micromelia, Abnormal thorax morphology, ... |
ORPHA:1318 |
Nephronophthisis 4 |
|
Polydipsia |
OMIM:606966 |
Trisomy 1Q |
|
Omphalocele, Microretrognathia, Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Congenit... |
ORPHA:261344 |
Renal Hypoplasia |
|
Polydipsia, Small for gestational age |
ORPHA:93101 |
3-Methylglutaconic Aciduria, Type Viii |
|
Bradycardia, Neonatal hypoglycemia, Neutropenia |
OMIM:617248 |
Congenital Myopathy 22B, Severe Fetal |
|
Hip contracture, Scapular winging, Thoracic scoliosis, Limb joint contracture, Shoulder flexion c... |
OMIM:620369 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Finger syndactyly, Inguinal hernia, Camptodactyly of finger, Multiple pterygia, Micrognathia, Pec... |
ORPHA:2990 |
Severe Congenital Nemaline Myopathy |
|
Increased connective tissue, Multiple prenatal fractures, Abnormal thorax morphology, Flexion con... |
ORPHA:171430 |
Arnold-Chiari Malformation Type I |
|
Stiff neck, Abnormality of the musculature of the lower limbs, Fused cervical vertebrae, Fatigabl... |
ORPHA:268882 |
Dent Disease |
|
Enlarged epiphyses, Enlargement of the ankles, Bulging epiphyses, Recurrent fractures, Osteomalac... |
ORPHA:1652 |
Fanconi Renotubular Syndrome 3 |
|
Rickets, Bowing of the legs |
OMIM:615605 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
Fanconi Renotubular Syndrome 2 |
|
Osteopenia, Recurrent fractures, Osteomalacia, Rickets |
OMIM:613388 |
Weill-Marchesani Syndrome 1 |
|
Lumbar hyperlordosis, Joint stiffness, Broad metatarsal, Spinal canal stenosis, Mitral regurgitat... |
OMIM:277600 |
East Syndrome |
|
Polydipsia, Salt craving |
ORPHA:199343 |
Mucopolysaccharidosis Type 3 |
|
Abnormal clavicle morphology, Craniofacial hyperostosis, Inguinal hernia, Joint stiffness, Avascu... |
ORPHA:581 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Elevated circulating alkaline phosphatase concentration, Elevated gamma-glutamyltransferase level... |
OMIM:613095 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormality of the spleen, Abnormal rib morphology, Abnormal form of the vertebral bodies |
ORPHA:93941 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Sprengel anomaly, Abnormality of the vertebral column, Abnormal rib morphology, Micrognathia |
OMIM:601076 |
Familial Hyperaldosteronism Type Iii |
|
Polydipsia |
ORPHA:251274 |
Lethal Congenital Contracture Syndrome 5 |
|
Flexion contracture, Subdural hemorrhage, Retinal hemorrhage, Thin ribs, Congenital contracture |
OMIM:615368 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Postaxial hand polydactyly, Abnormal rib morphology, Pulmonary arterial hypertension, Abnormal st... |
ORPHA:2519 |
Cog1-Cdg |
|
Osteopenia, Irregularity of vertebral bodies, Rhizomelia, Kyphoscoliosis, Short neck, Micrognathi... |
ORPHA:263508 |
Chromosome 16P13.3 Duplication Syndrome |
|
Sacral dimple, Inguinal hernia, Sandal gap, Rocker bottom foot, Proximal placement of thumb, Shor... |
OMIM:613458 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Osteopenia, Craniosynostosis, Low alkaline phosphatase, Upper limb undergrowth, Slender long bone... |
ORPHA:369837 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Gastrointestinal hemorrhage, Osteopenia, Joint dislocation, Congenital hip dislocation, Joint lax... |
OMIM:225400 |
Septo-Optic Dysplasia Spectrum |
|
Polydipsia, Obesity |
ORPHA:3157 |
Senior-Loken Syndrome 3 |
|
Polydipsia |
OMIM:606995 |
Aneurysm-Osteoarthritis Syndrome |
|
Joint laxity, Osteoarthritis of the small joints of the hand, Arachnodactyly, Camptodactyly of fi... |
ORPHA:284984 |
Whipple Disease |
|
Cachexia, Polydipsia, Anorexia |
ORPHA:3452 |
Myhre Syndrome |
|
Craniofacial hyperostosis, Inguinal hernia, Brachydactyly, Femoral hernia, Joint stiffness, Abnor... |
ORPHA:2588 |
Gracile Bone Dysplasia |
|
Asplenia, Flared metaphysis, Thin ribs, Slender long bone, Hypoplastic spleen, Decreased skull os... |
OMIM:602361 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Hyperextensibility of the finger joints, Micrognathia, Hemivertebrae, Knee flexion contracture, C... |
OMIM:151050 |
Developmental And Epileptic Encephalopathy 80 |
|
Elevated circulating alkaline phosphatase concentration, Short distal phalanx of finger, Triphala... |
OMIM:618580 |
Hyperparathyroidism, Neonatal Severe |
|
Polydipsia, Failure to thrive |
OMIM:239200 |
Osteopathia Striata With Cranial Sclerosis |
|
Micrognathia, Craniofacial osteosclerosis, Osteopathia striata, Clinodactyly of the 5th finger, B... |
OMIM:300373 |
Cerebrofaciothoracic Dysplasia |
|
Short neck, Rib fusion, Hemivertebrae, Vertebral segmentation defect, Narrow chest, Bifid ribs, S... |
ORPHA:1394 |
Mccune-Albright Syndrome |
|
Recurrent fractures, Osteomalacia, Fibrous dysplasia of the bones, Hepatitis, Abnormal femur morp... |
ORPHA:562 |
Camptodactyly Syndrome, Guadalajara Type 3 |
|
Osteopenia, Short neck, Delayed skeletal maturation, Abnormal rib morphology, Small hand, Short f... |
ORPHA:488434 |
Heterotaxy, Visceral, 1, X-Linked |
|
Omphalocele, Absence of the sacrum, Congenital hip dislocation, Block vertebrae, Asplenia, Short ... |
OMIM:306955 |
Primary Biliary Cholangitis |
|
Portal hypertension, Jaundice, Osteoporosis, Hepatitis, Elevated circulating alkaline phosphatase... |
ORPHA:186 |
Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Inguinal hernia, Long clavicles, Severe B lymphocytopenia, Arachnodactyly, Overlapping toe, Micro... |
ORPHA:83617 |
Atypical Werner Syndrome |
|
Sclerosis of hand bone, Increased bone mineral density, Rocker bottom foot, Limitation of joint m... |
ORPHA:79474 |
Parenteral Nutrition-Associated Cholestasis |
|
Elevated hepatic transaminase, Portal hypertension, Jaundice, Elevated circulating alkaline phosp... |
ORPHA:567983 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypophosphatemic rickets, Rickets, Rachitic rosary |
OMIM:612089 |
Fibular Dimelia-Diplopodia Syndrome |
|
Absent tibia, Sacrococcygeal teratoma |
ORPHA:1757 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Elevated hepatic transaminase, 11 pairs of ribs, Portal hypertension, Craniosynostosis, Tapered f... |
OMIM:620005 |
Lead Poisoning |
|
Delayed skeletal maturation, Cranial hyperostosis, Imbalanced hemoglobin synthesis, Abnormal T ce... |
ORPHA:330015 |
Nephronophthisis 3 |
|
Polydipsia |
OMIM:604387 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Elevated circulating aspartate aminotransferase concentration, Intrahepatic cholestasis, Elevated... |
OMIM:605814 |
Nephronophthisis 1 |
|
Polydipsia |
OMIM:256100 |
Raine Syndrome |
|
Increased bone mineral density, Bowing of the long bones, Elevated circulating alkaline phosphata... |
OMIM:259775 |
Primary Unilateral Adrenal Hyperplasia |
|
Polydipsia |
ORPHA:231580 |
Vacterl/Vater Association |
|
Omphalocele, Finger syndactyly, Abnormal intervertebral disk morphology, Congenital diaphragmatic... |
ORPHA:887 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Rickets |
OMIM:602722 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Abnormal hemoglobin, Joint stiffness, Flexion contracture, Talipes equinovarus, Clinodactyly of t... |
ORPHA:847 |
Isolated Biliary Atresia |
|
Elevated hepatic transaminase, Jaundice, Elevated circulating alkaline phosphatase concentration,... |
ORPHA:30391 |
Sclerosteosis 1 |
|
Syndactyly, Sclerotic scapulae, Broad clavicles, 2-3 finger syndactyly, Facial palsy secondary to... |
OMIM:269500 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Sacrococcygeal teratoma, Long clavicles, Increased density of long bones, Short neck, Wide distal... |
OMIM:269150 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Umbilical hernia, Delayed skeletal maturation, Bradycardia |
OMIM:218700 |
Radio-Renal Syndrome |
|
Micromelia, Short neck, Micrognathia, Abnormality of the elbow, Abnormal rib morphology, Hypoplas... |
ORPHA:3015 |
Intrahepatic Cholestasis Of Pregnancy |
|
Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration, Jaundice |
ORPHA:69665 |
Autosomal Recessive Robinow Syndrome |
|
Short neck, Micrognathia, Pectus carinatum, Vertebral segmentation defect, Clinodactyly of the 5t... |
ORPHA:1507 |
Ulbright-Hodes Syndrome |
|
Short humerus, Short metacarpal, Maternal diabetes, Short neck, Micrognathia, Humeroradial synost... |
ORPHA:3404 |
Renal Tubular Acidosis, Distal, 1 |
|
Pathologic fracture, Osteomalacia |
OMIM:179800 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Polydipsia |
ORPHA:369929 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Wormian bones, Cervical C2/C3 vertebral fusion, Micrognathia, Congestive heart failure, Small han... |
ORPHA:444077 |
Cranioectodermal Dysplasia 1 |
|
Narrow chest, Joint laxity, Rhizomelia, Sagittal craniosynostosis, Short toe, Short thorax, Osteo... |
OMIM:218330 |
Tetraamelia-Multiple Malformations Syndrome |
|
Abnormally ossified vertebrae, Micrognathia, Missing ribs, Abnormal rib morphology, Aplasia/Hypop... |
ORPHA:3301 |
Osteopetrosis, Autosomal Recessive 7 |
|
Multiple rib fractures, Abnormal trabecular bone morphology, Femur fracture, Splenomegaly, Osteop... |
OMIM:612301 |
Neu-Laxova Syndrome |
|
Osteopenia, Osteomalacia, Flexion contracture, Osteoporosis, Rickets, Scoliosis, Arthrogryposis m... |
ORPHA:2671 |
Acromelic Frontonasal Dysplasia |
|
Midline central nervous system lipomas, Patellar hypoplasia, Talipes equinovarus, Preaxial foot p... |
ORPHA:1827 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Osteoporosis, Rickets |
OMIM:560000 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Avascular necrosis of the capital femoral epiphysis, Elevated circulating alkaline phosphatase co... |
ORPHA:247691 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Osteopenia, Abnormally ossified vertebrae, Brachydactyly, Abnormal distal phalanx morphology of f... |
ORPHA:2636 |
Lowe Oculocerebrorenal Syndrome |
|
Increased circulating lactate dehydrogenase concentration, Camptodactyly of finger, Osteomalacia,... |
OMIM:309000 |
Caroli Disease |
|
Portal hypertension, Intrahepatic cholestasis, Jaundice, Elevated circulating alanine aminotransf... |
ORPHA:53035 |
Nephronophthisis 11 |
|
Polydipsia |
OMIM:613550 |
Oligomeganephronia |
|
Polydipsia, Small for gestational age |
ORPHA:2260 |
Osteoporosis-Pseudoglioma Syndrome |
|
Barrel-shaped chest, Osteopenia, Recurrent fractures, Kyphoscoliosis, Kyphosis, Metaphyseal widen... |
OMIM:259770 |
Leukemia, Chronic Myeloid |
|
Reduced leukocyte alkaline phosphatase |
OMIM:608232 |
Gitelman Syndrome |
|
Failure to thrive, Polydipsia, Salt craving |
OMIM:263800 |
Acheiropodia |
|
Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e... |
ORPHA:931 |
Hallermann-Streiff Syndrome |
|
Wormian bones, Hyperlordosis, Pectus excavatum, Micrognathia, Metaphyseal widening, Telangiectasi... |
OMIM:234100 |
Autosomal Dominant Popliteal Pterygium Syndrome |
|
Finger syndactyly, Toe syndactyly, Micrognathia, Joint stiffness, Split hand, Abnormal rib morpho... |
ORPHA:1300 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Pes planus, Hypoglycemia, Hyperlordosis, Tapered finger, Hip dislocation, Genu valgum, Hepatosple... |
OMIM:301066 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Persistence of hemoglobin F, Umbilical hernia, Hiatus hernia |
OMIM:619769 |
Wolf-Hirschhorn Syndrome |
|
Hypoplastic pubic ramus, Congenital diaphragmatic hernia, Micrognathia, Abnormal form of the vert... |
ORPHA:280 |
Thymoma |
|
Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Rheumatoid arthritis, Le... |
ORPHA:99867 |
Monosomy 9Q22.3 |
|
Accelerated skeletal maturation, Pectus excavatum, Short neck, Kyphosis, Plantar pits, Abnormal r... |
ORPHA:77301 |
Hydrolethalus Syndrome 1 |
|
Accessory spleen, Omphalocele, Micrognathia, Preaxial hand polydactyly, Postaxial hand polydactyl... |
OMIM:236680 |
Phocomelia, Schinzel Type |
|
Bowing of the long bones, Radial bowing, Talipes, Micromelia, Micrognathia, Short neck, Aplasia o... |
ORPHA:2879 |
Thakker-Donnai Syndrome |
|
Cervical C2/C3 vertebral fusion, Hemivertebrae, Congenital diaphragmatic hernia, Short neck |
ORPHA:1780 |
Estrogen Resistance |
|
Osteopenia, Elevated alkaline phosphatase of bone origin |
OMIM:615363 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Craniosynostosis, Congenital diaphragmatic hernia, Micrognathia, Rib fusion, Hand polydactyly, Sc... |
ORPHA:261197 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4 |
|
Elevated circulating alkaline phosphatase concentration, Scoliosis |
OMIM:618548 |
Chops Syndrome |
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Tracheomalacia, Cervical C2/C3 vertebral fusion, Brachydactyly, Splenomegaly |
OMIM:616368 |
Kinsship Syndrome |
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Osteopenia, Pes planus, Sacral dimple, Short neck, Micrognathia, Coxa valga, Hip dislocation, Fib... |
OMIM:619297 |
Kindler Epidermolysis Bullosa |
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Finger syndactyly, Abnormal dental enamel morphology, Camptodactyly of finger, Flexion contractur... |
ORPHA:2908 |
Cerebrocostomandibular Syndrome |
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Rib gap, 10 pairs of ribs, 11 pairs of ribs, Congenital hip dislocation, Anomalous rib insertion ... |
OMIM:117650 |
Congenital Disorder Of Glycosylation, Type Iiw |
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Elevated hepatic transaminase, Elevated circulating aspartate aminotransferase concentration, Ele... |
OMIM:619525 |
Oculocerebrorenal Syndrome Of Lowe |
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Micrognathia, Osteomalacia, Abnormal dental enamel morphology, Abnormal rib morphology, Joint hyp... |
ORPHA:534 |
Pagod Syndrome |
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Omphalocele, Abnormal clavicle morphology, Sudden cardiac death, Congenital diaphragmatic hernia,... |
ORPHA:991 |
Renal Cysts And Diabetes Syndrome |
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Abnormality of alkaline phosphatase level, Gout, Elevated hepatic transaminase |
OMIM:137920 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
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Elevated circulating aspartate aminotransferase concentration, Broad 2nd toe, Elevated circulatin... |
OMIM:280000 |
Mucopolysaccharidosis Type 2, Severe Form |
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Inguinal hernia, Thickened ribs, Camptodactyly of finger, Diaphyseal thickening, Splenomegaly, Fl... |
ORPHA:217085 |
Hypomagnesemia 3, Renal |
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Polydipsia, Failure to thrive |
OMIM:248250 |
Kagami-Ogata Syndrome |
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Omphalocele, Inguinal hernia, Kyphoscoliosis, Short neck, Micrognathia, Coxa valga, Limitation of... |
ORPHA:254519 |
Senior-Loken Syndrome 1 |
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Polydipsia |
OMIM:266900 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
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Flexion contracture, Thin ribs |
OMIM:614833 |
Cranioectodermal Dysplasia 2 |
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Joint laxity, Syndactyly, Inguinal hernia, Rhizomelia, Craniosynostosis, Short neck, Pectus excav... |
OMIM:613610 |
Short Qt Syndrome 3 |
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Shortened QT interval, Tachycardia, Palpitations |
OMIM:609622 |
Charge Syndrome |
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Omphalocele, Hypoplasia of the ulna, Down-sloping shoulders, Micrognathia, Absent radius, Short t... |
OMIM:214800 |
Wilson Disease |
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Acute hepatic failure, Osteomalacia, Elevated circulating aspartate aminotransferase concentratio... |
OMIM:277900 |
Coccidioidomycosis |
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Pericarditis, Osteomyelitis, Eosinophilia, Abnormality of the spleen, Vasculitis, Osteolysis, Aty... |
ORPHA:228123 |
Tibial Hemimelia |
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Absent tibia |
OMIM:275220 |
Mucopolysaccharidosis Type 2, Attenuated Form |
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Inguinal hernia, Thickened ribs, Camptodactyly of finger, Diaphyseal thickening, Splenomegaly, Fl... |
ORPHA:217093 |
Refractory Celiac Disease |
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Elevated hepatic transaminase, Osteoporosis, Elevated alkaline phosphatase of bone origin |
ORPHA:398063 |
Osteopetrosis With Renal Tubular Acidosis |
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Pancytopenia, Recurrent fractures, Micrognathia, Pectus excavatum, Thrombocytopenia, Leukopenia, ... |
ORPHA:2785 |
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
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Polydipsia, Salt craving |
OMIM:612780 |
Toxic Epidermal Necrolysis |
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Polydipsia, Weight loss, Dysphagia |
ORPHA:537 |
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome |
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Joint hypermobility, Thin ribs |
ORPHA:456328 |
Amoebiasis Due To Entamoeba Histolytica |
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Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration |
ORPHA:67 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
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Low alkaline phosphatase |
OMIM:201100 |
Pituitary Dermoid And Epidermoid Cysts |
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Polydipsia |
ORPHA:91351 |
Ear-Patella-Short Stature Syndrome |
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Camptodactyly of finger, Aplastic clavicle, Craniosynostosis, Elbow dislocation, Micrognathia, De... |
ORPHA:2554 |
Baller-Gerold Syndrome |
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Limited elbow movement, Micrognathia, Patellar hypoplasia, Spina bifida occulta, Abnormal vertebr... |
OMIM:218600 |
Helix Syndrome |
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Polydipsia |
OMIM:617671 |
Infantile Nephropathic Cystinosis |
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Polydipsia, Failure to thrive |
ORPHA:411629 |
Mirizzi Syndrome |
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Elevated hepatic transaminase, Jaundice, Elevated circulating alkaline phosphatase concentration |
ORPHA:521219 |
Senior-Boichis Syndrome |
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Polydipsia, Agitation, Attention deficit hyperactivity disorder, Aggressive behavior |
ORPHA:84081 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
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Hip contracture, Flexion contracture, Elbow flexion contracture, Knee flexion contracture, Elevat... |
OMIM:300868 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
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Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration, Hepatic f... |
OMIM:617156 |
Trisomy 18 |
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Omphalocele, Microretrognathia, Camptodactyly of finger, Congenital diaphragmatic hernia, Abnorma... |
ORPHA:3380 |
Pallister-Hall Syndrome |
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Syndactyly, Mesoaxial foot polydactyly, Toe syndactyly, Mesoaxial hand polydactyly, Radial head s... |
OMIM:146510 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
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Elevated hepatic transaminase, Interface hepatitis, Elevated circulating alkaline phosphatase con... |
ORPHA:562639 |
Schinzel-Giedion Syndrome |
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Abnormal clavicle morphology, Short neck, Micrognathia, Tibial bowing, Broad ribs, Myeloid leukem... |
ORPHA:798 |
Panhypophysitis |
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Polydipsia |
ORPHA:95513 |
Methemoglobinemia And Ambiguous Genitalia |
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Methemoglobinemia |
OMIM:250790 |
Erdheim-Chester Disease |
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Polydipsia, Weight loss |
ORPHA:35687 |
Celiac Disease, Susceptibility To, 1 |
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Elevated hepatic transaminase, Osteoporosis, Rickets |
OMIM:212750 |
Smith-Lemli-Opitz Syndrome |
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Congenital diaphragmatic hernia, Short neck, Micrognathia, Proximal placement of thumb, Abnormal ... |
ORPHA:818 |
Loeys-Dietz Syndrome 3 |
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Joint laxity, Arachnodactyly, Protrusio acetabuli, Craniosynostosis, Osteoarthritis, Knee osteoar... |
OMIM:613795 |
Caroli Syndrome |
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Elevated hepatic transaminase, Portal hypertension, Intrahepatic cholestasis, Jaundice, Elevated ... |
ORPHA:480520 |
Generalized Arterial Calcification Of Infancy |
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Abnormality of the knee, Transient ischemic attack, Osteomalacia, Retinal hemorrhage, Stippled ca... |
ORPHA:51608 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
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Rickets, Recurrent fractures |
OMIM:268315 |
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
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HbH hemoglobin |
ORPHA:423479 |
Craniotubular Dysplasia, Ikegawa Type |
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Metaphyseal dysplasia, Broad femoral neck, Increased intervertebral space, Broad ischia, Diaphyse... |
OMIM:619727 |
Monosomy 9P |
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Congenital diaphragmatic hernia, Short neck, Micrognathia, Proximal placement of thumb, Abnormali... |
ORPHA:261112 |
Hereditary Acrokeratotic Poikiloderma |
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Finger syndactyly, Telangiectasia of the skin, Camptodactyly of finger, Abnormal rib morphology, ... |
ORPHA:2907 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
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Osteopenia, Joint laxity, Elevated hepatic transaminase, Portal hypertension, Rickets, Reduced bo... |
OMIM:613658 |
Lysosomal Acid Lipase Deficiency |
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Elevated hepatic transaminase, Fatal liver failure in infancy, Jaundice, Elevated circulating alk... |
ORPHA:275761 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
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Osteomalacia, Chondrocalcinosis |
OMIM:600740 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
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Kyphosis, Scoliosis, Sinus bradycardia |
OMIM:619482 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
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Rickets |
OMIM:219900 |
Thoracic Outlet Syndrome |
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Abnormal rib morphology |
ORPHA:97330 |
Parathyroid Carcinoma |
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Polydipsia, Weight loss, Dysphagia |
ORPHA:143 |
Myotubular Myopathy With Abnormal Genital Development |
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Joint hypermobility, Thin ribs |
OMIM:300219 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
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Omphalocele, Umbilical hernia, Coat hanger sign of ribs, Thoracic hypoplasia |
ORPHA:254534 |
Fryns Syndrome |
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Omphalocele, Microretrognathia, Rocker bottom foot, Proximal placement of thumb, Short neck, Shor... |
OMIM:229850 |
Brain-Lung-Thyroid Syndrome |
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Hyperactivity, Abnormal eating behavior, Abnormal drinking behavior, Compulsive behaviors, Failur... |
ORPHA:209905 |
Al Amyloidosis |
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Elevated circulating alkaline phosphatase concentration |
ORPHA:85443 |
Pontine Tegmental Cap Dysplasia |
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Ankle clonus, Rib fusion, Hemivertebrae, Scoliosis |
OMIM:614688 |
Distal Renal Tubular Acidosis |
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Polydipsia, Failure to thrive |
ORPHA:18 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
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Elevated hepatic transaminase, Jaundice, Elevated circulating alkaline phosphatase concentration,... |
ORPHA:247598 |
Fetal Akinesia Deformation Sequence 1 |
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Hip contracture, Ulnar deviation of the hand, Elbow contracture, Camptodactyly of finger, Short n... |
OMIM:208150 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
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Polydipsia, Failure to thrive |
OMIM:602522 |
Primary Hepatic Neuroendocrine Carcinoma |
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Elevated hepatic transaminase, Intrahepatic cholestasis with episodic jaundice, Intermittent jaun... |
ORPHA:100085 |
Zttk Syndrome |
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Aortic regurgitation, Craniosynostosis, Kyphosis, Flexion contracture, Rib fusion, Hemivertebrae,... |
OMIM:617140 |
Juvenile Nephropathic Cystinosis |
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Polydipsia, Failure to thrive |
ORPHA:411634 |
Autosomal Dominant Centronuclear Myopathy |
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Calf muscle hypertrophy, Abnormality of the foot musculature, Areflexia of lower limbs, Thin ribs |
ORPHA:169189 |
Rabson-Mendenhall Syndrome |
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Polydipsia |
ORPHA:769 |
Orofaciodigital Syndrome Type 4 |
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Joint dislocation, Finger syndactyly, Camptodactyly of finger, Micromelia, Micrognathia, Preaxial... |
ORPHA:2753 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
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Sacral dimple, Inguinal hernia, Tapered toe, Tapered finger, Rib fusion, Clinodactyly of the 5th ... |
ORPHA:544488 |
1P36 Deletion Syndrome |
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11 pairs of ribs, Camptodactyly of finger, Joint stiffness, Lower limb asymmetry, Kyphosis, Abnor... |
ORPHA:1606 |
Cystinosis, Nephropathic |
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Failure to thrive in infancy, Oral-pharyngeal dysphagia, Weight loss, Dysphagia, Polydipsia |
OMIM:219800 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
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Aggressive behavior, Obesity, Self-injurious behavior, Compulsive behaviors, Polydipsia, Polyphagia |
ORPHA:293987 |
Wiedemann-Rautenstrauch Syndrome |
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Short neck, Micrognathia, Flexion contracture, Hypoplasia of the thymus, Narrow chest, Genu varum... |
OMIM:264090 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
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Postaxial polydactyly, Splenomegaly, Postaxial hand polydactyly, Aplasia of the epiglottis, Cone-... |
OMIM:617088 |
Pancreatic Triacylglycerol Lipase Deficiency |
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Osteoporosis, Osteomalacia, Rickets |
ORPHA:309031 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
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Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration, Elevated ... |
OMIM:124000 |
Wolfram Syndrome |
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Polydipsia |
ORPHA:3463 |
Digeorge Syndrome |
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Patellar dislocation, Scoliosis, Intervertebral disc degeneration |
OMIM:188400 |
Primary Sclerosing Cholangitis |
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Osteopenia, Acute hepatic failure, Elevated hepatic transaminase, Portal hypertension, Jaundice, ... |
ORPHA:171 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
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Osteopenia, Syndactyly, Elevated circulating aspartate aminotransferase concentration, Portal hyp... |
OMIM:619534 |
Gitelman Syndrome |
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Failure to thrive, Polydipsia, Salt craving |
ORPHA:358 |
Vater/Vacterl Association |
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Syndactyly, Absent radius, Short thumb, Hypoplasia of the radius, Abnormal rib morphology, Preaxi... |
OMIM:192350 |
Hyperparathyroidism-Jaw Tumor Syndrome |
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Polydipsia, Dysphagia |
ORPHA:99880 |
Proximal Renal Tubular Acidosis |
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Polydipsia, Failure to thrive |
ORPHA:47159 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
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Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Polycythemia, Fingerpa... |
OMIM:600376 |
Elsahy-Waters Syndrome |
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Pectus excavatum, Shortening of all phalanges of fingers, Cutaneous finger syndactyly, Cervical C... |
OMIM:211380 |
Bartter Syndrome, Type 2, Antenatal |
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Polydipsia, Failure to thrive, Small for gestational age |
OMIM:241200 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Polydipsia |
ORPHA:93111 |
Reynolds Syndrome |
|
Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration, Jaundice |
OMIM:613471 |
Gallbladder Neuroendocrine Tumor |
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Elevated alkaline phosphatase of hepatic origin, Elevated gamma-glutamyltransferase level, Interm... |
ORPHA:100086 |
Arima Syndrome |
|
Polydipsia |
OMIM:243910 |
Restrictive Dermopathy |
|
Osteopenia, Thoracic kyphoscoliosis, Aplasia/Hypoplasia of the clavicles, Multiple joint contract... |
ORPHA:1662 |
Charge Syndrome |
|
Talipes, Abnormal tibia morphology, Abnormal rib morphology, Hemivertebrae, Bifid femur, Abnormal... |
ORPHA:138 |
Craniofacial Microsomia 1 |
|
Block vertebrae, Micrognathia, Partial duplication of thumb phalanx, Hemivertebrae, Genu valgum, ... |
OMIM:164210 |
Pallister-Hall Syndrome |
|
Hemivertebrae, Microretrognathia, Mesoaxial polydactyly, Radial bowing, Rib fusion, Umbilical her... |
ORPHA:672 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
11 pairs of ribs, Noncompaction cardiomyopathy, Camptodactyly of finger, Delayed closure of the a... |
OMIM:607872 |
Familial Hypocalciuric Hypercalcemia |
|
Osteomalacia, Chondrocalcinosis |
ORPHA:405 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Lumbar hyperlordosis, Transient ischemic attack, Arachnodactyly, Kyphoscoliosis, Sagittal cranios... |
ORPHA:500150 |
Alagille Syndrome 1 |
|
Hypoplasia of the ulna, Abnormal rib morphology, Hemivertebrae, Butterfly vertebral arch, Short d... |
OMIM:118450 |
Townes-Brocks Syndrome |
|
Broad hallux phalanx, Pes planus, Toe syndactyly, Lower limb asymmetry, Abnormal foot morphology,... |
ORPHA:857 |
Autosomal Recessive Polycystic Kidney Disease |
|
Polydipsia |
ORPHA:731 |
Immunodeficiency 82 With Systemic Inflammation |
|
Osteomyelitis, Osteomalacia, Hepatitis, Arthritis, Joint swelling |
OMIM:619381 |
Primary Fanconi Renotubular Syndrome |
|
Hypophosphatemic rickets, Osteomalacia, Increased susceptibility to fractures |
ORPHA:3337 |