Muscle Cramps, Familial |
|
Elevated circulating creatine kinase concentration |
OMIM:158400 |
Isolated Asymptomatic Elevation Of Creatine Phosphokinase |
|
Elevated circulating creatine kinase concentration |
ORPHA:206599 |
Cramps, Familial Adolescent |
|
Elevated circulating creatine kinase concentration |
OMIM:218050 |
Plasma Fibronectin Deficiency |
|
Reduced circulating fibronectin level |
OMIM:614101 |
Pentosuria |
|
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level |
ORPHA:2843 |
Hypophosphatemic Bone Disease |
|
Hypophosphatemia, Osteomalacia, Rickets |
OMIM:146350 |
Hypoparathyroidism, Familial Isolated, 2 |
|
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
OMIM:618883 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Hypophosphatemia, Increased bone mineral density, Craniosynostosis, Ric... |
OMIM:241520 |
Hypophosphatemic Rickets, Autosomal Dominant |
|
Hypophosphatemic rickets, Hypophosphatemia, Osteomalacia, Rickets |
OMIM:193100 |
Rhizomelic Chondrodysplasia Punctata, Type 3 |
|
Failure to thrive, Short femur, Short humerus, Rhizomelia, Epiphyseal stippling |
OMIM:600121 |
Gnathodiaphyseal Dysplasia |
|
Recurrent fractures, Mandibular osteomyelitis, Osteopenia, Scoliosis, Bowing of the long bones, T... |
ORPHA:53697 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Abnormal circulating insulin concentration, Enlarged tonsils, Increased hepatic glycogen content,... |
ORPHA:293964 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Recurrent fractures, Delayed epiphyseal ossification, Hypophosphatemia, Sparse bone trabeculae, M... |
OMIM:600081 |
Vitamin D-Dependent Rickets, Type 3 |
|
Bowing of the legs, Metaphyseal cupping, Hypophosphatemia, Hypocalcemia, Elevated circulating par... |
OMIM:619073 |
Eiken Syndrome |
|
Delayed epiphyseal ossification, Epiphyseal dysplasia, Abnormal bone ossification, Metaphyseal ir... |
ORPHA:79106 |
Blue Diaper Syndrome |
|
Decreased circulating T4 concentration, Increased body weight, Elevated circulating thyroid-stimu... |
ORPHA:94086 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Recurrent fractures, Kyphosis, Failure to thrive, Increased bone mineral density, Short stature, ... |
OMIM:239000 |
Hyperinsulinism Due To Insr Deficiency |
|
Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, Hypoglycemia, Fasting hyperinsulinemia, ... |
ORPHA:263458 |
Pseudohypoparathyroidism, Type Ii |
|
Hypocalcemia, Hyperphosphatemia |
OMIM:203330 |
Osteogenesis Imperfecta, Type Xxii |
|
Recurrent fractures, Abnormal circulating calcium concentration, Reduced bone mineral density, Sh... |
OMIM:619795 |
Axial Osteomalacia |
|
Elevated circulating creatine kinase concentration, Osteomalacia, Increased bone mineral density |
OMIM:109130 |
Hypophosphatemia, Renal, With Intracerebral Calcifications |
|
Renal hypophosphatemia |
OMIM:241519 |
Hyperinsulinism Due To Glucokinase Deficiency |
|
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, Hypoketotic h... |
ORPHA:79299 |
Glycogen Storage Disease Vi |
|
Hyperlipidemia, Hepatomegaly, Increased hepatic glycogen content, Hypoglycemia, Hypertriglyceride... |
OMIM:232700 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity |
|
Platyspondyly, Pectus carinatum, Ulnar deviation of finger, Abnormal epiphysis morphology, Abnorm... |
ORPHA:93359 |
Bruck Syndrome 1 |
|
Hip contracture, Coxa vara, Kyphosis, Talipes equinovarus, Short stature, Platyspondyly, Scoliosi... |
OMIM:259450 |
Metatropic Dysplasia |
|
Halberd-shaped pelvis, Cone-shaped epiphysis, Platyspondyly, Disproportionate short-trunk short s... |
OMIM:156530 |
Osteogenesis Imperfecta, Type Xix |
|
Recurrent fractures, Pectus excavatum, Severe short stature, Osteopenia, Scoliosis, Biconcave ver... |
OMIM:301014 |
Pseudohypoparathyroidism, Type Ia |
|
Short toe, Subcutaneous ossification, Short stature, Elevated circulating parathyroid hormone lev... |
OMIM:103580 |
Spondylometaphyseal Dysplasia, Type A4 |
|
Sclerotic humeral metaphysis, Metaphyseal irregularity, Disproportionate short-limb short stature... |
OMIM:609052 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Bone pain, Recurrent fractures, Hypophosphatemia, Bone cyst, Hypocalcemia, Abnormal hip bone morp... |
ORPHA:93160 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Failure to thrive, Microvesicular hepatic steatosis, Cirrhosis, Cholestasis, Hypoglycemia, Hypoal... |
OMIM:617156 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Abnormal circulating insulin concentration, Decreased circulating free T3, Abnormal circulating s... |
ORPHA:171706 |
Acrocapitofemoral Dysplasia |
|
Cone-shaped epiphyses of the phalanges of the hand, Hypoplasia of the radius, Cone-shaped epiphys... |
OMIM:607778 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Rickets of the lower limbs, Delayed epiphyseal ossification, Sparse bone trabeculae, Metaphyseal ... |
OMIM:600785 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Recurrent fractures, Hypophosphatemic rickets, Hypophosphatemia, Delayed epiphyseal ossification,... |
OMIM:241530 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Femoral bowing, Platyspondyly, Short long bone, Metaphyseal irregularity, Metaphyseal cupping of ... |
ORPHA:174 |
Pseudohypoparathyroidism, Type Ic |
|
Short stature, Elevated circulating parathyroid hormone level, Brachydactyly, Osteoporosis, Hypot... |
OMIM:612462 |
Pseudohypoparathyroidism Type 2 |
|
Hypocalcemia, Elevated circulating parathyroid hormone level, Hypocalcemic tetany, Hyperphosphate... |
ORPHA:94090 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Recurrent fractures, Delayed epiphyseal ossification, Hypophosphatemia, Sparse bone trabeculae, M... |
OMIM:264700 |
Hypophosphatasia |
|
Recurrent fractures, Craniosynostosis, Failure to thrive in infancy, Skin dimple, Hypercalcemia, ... |
ORPHA:436 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Elevated circulating parathyroid hormone level, Osteopenia, Metacarpal periosteal thickening, Hyp... |
OMIM:617994 |
Osteogenesis Imperfecta, Type Ix |
|
Recurrent fractures, Kyphosis, Pectus excavatum, Disproportionate short-limb short stature, Decre... |
OMIM:259440 |
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
|
Short femur, Hypoplasia of the radius, Short tibia, Absent ossification of cervical vertebral bod... |
OMIM:601376 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Clinodactyly of the 5th finger, Short stature, Scoliosis, Pectus carinatum, Radioulnar synostosis... |
ORPHA:3268 |
Pseudohypoparathyroidism, Type Ib |
|
Hypocalcemia, Elevated circulating parathyroid hormone level, Hyperphosphatemia, Obesity, Pseudoh... |
OMIM:603233 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Femoral bowing, Thin bony cortex, Subperiosteal bone resorption, Osteomalacia, Rachitic rosary, I... |
ORPHA:289157 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Epiphyseal dysplasia, Metaphyseal dysplasia, Decreased response to growth hormone stimulation tes... |
OMIM:614732 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Hypophosphatemia, Osteomalacia, Rickets, Hypocalcemia |
ORPHA:89937 |
Spondyloepiphyseal Dysplasia Tarda |
|
Abnormally ossified vertebrae, Barrel-shaped chest, Platyspondyly, Short neck, Biconcave vertebra... |
ORPHA:93284 |
Monosomy 5P |
|
Recurrent fractures, Short stature, Small hand, Short neck, Scoliosis, Abnormality of bone minera... |
ORPHA:281 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Failure to thrive, Hepatomegaly, Splenomegaly, Increased total bilirubin, Conjugated hyperbilirub... |
OMIM:619868 |
Rhizomelic Dysplasia, Ain-Naz Type |
|
Short femur, Short humerus, Hypoplasia of the femoral head, Short femoral neck, Wide distal femor... |
OMIM:619598 |
Renal Tubular Acidosis Iii |
|
Hypokalemia, Osteomalacia, Rickets |
OMIM:267200 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Obesity, Congenital hypothyroidism, Hypoalbuminemia, Craniosynostosis |
ORPHA:88643 |
Growth Hormone Insensitivity Syndrome |
|
Failure to thrive, Type II diabetes mellitus, Hypoplasia of penis, Short stature, Truncal obesity... |
ORPHA:181393 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Small for gestational age, Maturit... |
ORPHA:324575 |
Short Stature Due To Ghsr Deficiency |
|
Decreased body weight, Hypoglycemia, Delayed puberty, Decreased serum insulin-like growth factor ... |
ORPHA:314811 |
Renal Tubular Acidosis, Distal, 1 |
|
Hypokalemia, Hypocalcemia, Osteomalacia, Pathologic fracture, Elevated circulating creatinine con... |
OMIM:179800 |
Fanconi Renotubular Syndrome 1 |
|
Hypophosphatemia, Osteomalacia, Rickets, Hypokalemia |
OMIM:134600 |
Neurologic Disease, Infantile Multisystem, With Osseous Fragility |
|
Recurrent fractures, Hip dislocation, Hip subluxation, Osteoporosis |
OMIM:256720 |
Endosteal Hyperostosis, Worth Type |
|
Clavicular sclerosis, Abnormal form of the vertebral bodies, Abnormal rib morphology, Generalized... |
ORPHA:2790 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Cone-shaped epiphyses of the phalanges of the hand, Accelerated skeletal maturation, Mild postnat... |
OMIM:101800 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Spinal canal stenosis, Metaphyseal irregularity, Hypophosphatemic rickets, Hypophosphatemia, Abno... |
OMIM:307800 |
Morbid Obesity And Spermatogenic Failure |
|
Infertility, Type II diabetes mellitus, Increased LDL cholesterol concentration, Insulin resistan... |
OMIM:615703 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Hypophosphatemic rickets, Hypophosphatemia, Reduced bone mineral density, Osteomalacia, Pathologi... |
ORPHA:157215 |
Metatropic Dysplasia |
|
Narrow chest, Joint stiffness, Kyphosis, Halberd-shaped pelvis, Coarse metaphyseal trabecularizat... |
ORPHA:2635 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Severe intrauterine growth retardation, Hypocalcemia, Decreased response to growth hormone stimul... |
OMIM:241410 |
Hyperparathyroidism 4 |
|
Osteopenia, Primary hyperparathyroidism, Hypercalcemia, Parathyroid carcinoma |
OMIM:617343 |
Osteogenesis Imperfecta, Type Xiv |
|
Recurrent fractures, Short stature, Osteopenia, Femoral bowing, Scoliosis, Increased susceptibili... |
OMIM:615066 |
Fibular Hemimelia |
|
Craniosynostosis, Talipes equinovalgus, Structural foot deformity, Arthralgia of the hip, Abnorma... |
ORPHA:93323 |
Thymic Neuroendocrine Tumor |
|
Pituitary null cell adenoma, Pituitary adenoma, Increased circulating cortisol level, Neuroendocr... |
ORPHA:97289 |
Temple Syndrome |
|
Intrauterine growth retardation, Joint hypermobility, Flexion contracture, Small for gestational ... |
OMIM:616222 |
Mazabraud Syndrome |
|
Recurrent fractures, Bone pain, Fibrous dysplasia of the bones |
ORPHA:57782 |
Progressive Familial Intrahepatic Cholestasis |
|
Failure to thrive, Hypocalcemia, Hepatomegaly, Splenomegaly, Reduced bone mineral density, Choles... |
ORPHA:172 |
Brachyolmia Type 1, Hobaek Type |
|
Sclerotic foci of metaphyses of the elbow, Kyphosis, Squared-off platyspondyly, Back pain, Osteop... |
OMIM:271530 |
Metaphyseal Chondrodysplasia, Spahr Type |
|
Metaphyseal dysplasia, Reduced bone mineral density, Scoliosis, Genu varum, Short lower limbs, Hy... |
ORPHA:2501 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Glucose intolerance, Hyperlipidemia, Osteoporosis, Gout, Impaired glucose tolerance, Hypertriglyc... |
OMIM:610947 |
Pseudohypoparathyroidism Type 1B |
|
Hypocalcemia, Diaphyseal sclerosis, Increased bone mineral density, Short stature, Short neck, Hy... |
ORPHA:94089 |
Familial Isolated Hyperparathyroidism |
|
Hypophosphatemia, Parathyroid adenoma, Elevated circulating parathyroid hormone level, Osteopenia... |
ORPHA:99879 |
Acromesomelic Dysplasia 2A |
|
Flexion contracture, Short femur, Hypoplasia of the radius, Short tibia, Short humerus, Aplasia/H... |
OMIM:200700 |
Osteogenesis Imperfecta, Type Xxi |
|
Recurrent fractures, Coxa vara, Pectus excavatum, Bowing of the legs, Disproportionate short-limb... |
OMIM:619131 |
Calciphylaxis |
|
Skin ulcer, Ectopic ossification, Secondary hyperparathyroidism, Hyperphosphatemia |
ORPHA:280062 |
Analbuminemia |
|
Increased LDL cholesterol concentration, Elevated circulating transferrin concentration, Osteopor... |
OMIM:616000 |
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates |
|
Elevated circulating creatine kinase concentration |
ORPHA:88635 |
Neonatal Hemochromatosis |
|
Increased circulating ferritin concentration, Congenital hepatic fibrosis, Hypoglycemia, Increase... |
ORPHA:446 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Osteopenia, Hypophosphatemia, Osteoporosis, Increased susceptibility to fractures |
OMIM:612287 |
Multiple Epiphyseal Dysplasia With Robin Phenotype |
|
Dislocated radial head, Coxa vara, Flat capital femoral epiphysis, Talipes equinovarus, Flexion c... |
OMIM:601560 |
Osteogenesis Imperfecta, Type V |
|
Recurrent fractures, Limited pronation/supination of forearm, Anterior radial head dislocation, S... |
OMIM:610967 |
Vitamin D-Dependent Rickets, Type 2A |
|
Recurrent fractures, Delayed epiphyseal ossification, Hypophosphatemia, Sparse bone trabeculae, M... |
OMIM:277440 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
ORPHA:2239 |
Osteogenesis Imperfecta, Type Ii |
|
Recurrent fractures, Tibial bowing, Broad long bones, Disproportionate short-limb short stature, ... |
OMIM:166210 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Kyphosis, Osteopenia, Scoliosis, Congenital bilateral hip dislocation, Joint laxity, Increased su... |
OMIM:130060 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Recurrent fractures, Hypophosphatemic rickets, Hypophosphatemia, Delayed epiphyseal ossification,... |
OMIM:300554 |
Immunodeficiency 27A |
|
Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Th... |
OMIM:209950 |
Kyphomelic Dysplasia |
|
Narrow chest, Joint stiffness, Undulate ribs, Anterior rib cupping, Micromelia, Abnormal form of ... |
ORPHA:1801 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Hypoparathyroidism, Decreased circulating parathyroid hormone level, Hypocalcemia, Hyperphosphate... |
OMIM:146200 |
Melorheostosis With Osteopoikilosis |
|
Abnormal cortical bone morphology, Osteopoikilosis |
ORPHA:1879 |
Adamantinoma |
|
Hypercalcemia, Pathologic fracture |
ORPHA:55881 |
Solitary Bone Cyst |
|
Lytic defects of the radius, Abnormal humeral diaphysis morphology, Back pain, Abnormality of the... |
ORPHA:83468 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemia, Large for gestational age, Pancreatic islet-cell hyp... |
OMIM:601820 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypocalcemia, Hepatomegaly, Splenomegaly, Short stature, Hepatosplenomegaly, Primary amenorrhea, ... |
OMIM:612526 |
Bruck Syndrome 2 |
|
Talipes equinovarus, Flexion contracture, Short stature, Osteopenia, Femoral bowing, Platyspondyl... |
OMIM:609220 |
Pseudoachondroplasia |
|
Irregular carpal bones, Cone-shaped epiphysis, Platyspondyly, Hypoplasia of the capital femoral e... |
ORPHA:750 |
X-Linked Hypophosphatemia |
|
Craniosynostosis, Upper limb metaphyseal widening, Genu valgum, Abnormal epiphysis morphology, En... |
ORPHA:89936 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Coxa vara, Disproportionate short-limb short stature, Short metacarpal, Osteoarthritis, Platyspon... |
ORPHA:93351 |
Mody |
|
Glucose intolerance, Exocrine pancreatic insufficiency, Hypoinsulinemia, Hyperinsulinemic hypogly... |
ORPHA:552 |
Osteogenesis Imperfecta, Type Xvi |
|
Narrow chest, Recurrent fractures, Short long bone, Multiple rib fractures, Small for gestational... |
OMIM:616229 |
Insulin Autoimmune Syndrome |
|
Hyperinsulinemic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Nonketotic hypoglycemia... |
ORPHA:411593 |
Hypophosphatasia, Adult |
|
Recurrent fractures, Osteomalacia, Pathologic fracture, Increased susceptibility to fractures, Ri... |
OMIM:146300 |
Gnathodiaphyseal Dysplasia |
|
Osteomyelitis, Diaphyseal cortical sclerosis, Osteopenia, Increased susceptibility to fractures, ... |
OMIM:166260 |
Hypophosphatasia, Infantile |
|
Bowing of the legs, Failure to thrive, Metaphyseal cupping, Disproportionate short-limb short sta... |
OMIM:241500 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Hyperparathyroidism, Anemia, Bone cyst, Hypercalcemia |
ORPHA:2668 |
Transient Neonatal Diabetes Mellitus |
|
Failure to thrive, Hypoinsulinemia, Small for gestational age, Maturity-onset diabetes of the you... |
ORPHA:99886 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Failure to thrive, Hyperlipidemia, Hepatomegaly, Increased hepatic glycogen content, Cirrhosis, O... |
ORPHA:369 |
Hypocalcemia, Autosomal Dominant 1 |
|
Nephrolithiasis, Decreased circulating parathyroid hormone level, Hypomagnesemia, Hypokalemia, Hy... |
OMIM:601198 |
Sanjad-Sakati Syndrome |
|
Spinal canal stenosis, Severe intrauterine growth retardation, Hypocalcemia, Short stature, Small... |
ORPHA:2323 |
Pseudohypoparathyroidism Type 1C |
|
Hypergonadotropic hypogonadism, Elevated circulating parathyroid hormone level, Short 3rd metacar... |
ORPHA:79444 |
Insulin-Resistance Syndrome Type B |
|
Hyperinsulinemia, Abnormal circulating fatty-acid concentration, Glycosuria, Abnormality of circu... |
ORPHA:2298 |
Intermediate Osteopetrosis |
|
Sandwich appearance of vertebral bodies, Recurrent fractures, Cortical sclerosis, Osteomyelitis, ... |
ORPHA:210110 |
Hyperostosis Corticalis Generalisata |
|
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis |
ORPHA:3416 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Corner fracture of metaphysis, Short neck, Platyspondyly, Biconcave vertebral bodies, Pectus cari... |
ORPHA:93315 |
Epiphyseal Dysplasia, Multiple, 5 |
|
Epiphyseal dysplasia, Coxa vara, Metaphyseal irregularity, Delayed ossification of carpal bones, ... |
OMIM:607078 |
Osteomesopyknosis |
|
Abnormal cortical bone morphology, Increased bone mineral density |
ORPHA:2777 |
Spondyloepimetaphyseal Dysplasia With Hypotrichosis |
|
Delayed epiphyseal ossification, Decreased hip abduction, Proximal humeral metaphyseal irregulari... |
OMIM:183849 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia,... |
OMIM:610021 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Osteopenia, Hypophosphatemia, Osteoporosis, Increased susceptibility to fractures |
OMIM:612286 |
Hip Dysplasia, Beukes Type |
|
Abnormality of the epiphysis of the femoral head, Coxa vara, Abnormal bone ossification, Abnormal... |
ORPHA:2114 |
Mirage Syndrome |
|
Hypergonadotropic hypogonadism, Radial club hand, Hypoplastic spleen, Shawl scrotum, Rocker botto... |
OMIM:617053 |
Refractory Celiac Disease |
|
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Increased proportion of HLA DR+ ... |
ORPHA:398063 |
Autoimmune Hypoparathyroidism |
|
Hypocalcemia, Increased bone mineral density, Autoimmune hypoparathyroidism, Hypocalcemic tetany,... |
ORPHA:36913 |
Acromesomelic Dysplasia, Maroteaux Type |
|
Sprengel anomaly, Joint stiffness, Kyphosis, Beaking of vertebral bodies, Brachydactyly, Scoliosi... |
ORPHA:40 |
Osteogenesis Imperfecta, Type Iii |
|
Recurrent fractures, Tibial bowing, Wide anterior fontanel, Kyphosis, Disproportionate short-limb... |
OMIM:259420 |
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta |
|
Asymmetry of the thorax, Thin ribs, Epiphyseal streaking, Clinodactyly of the 4th toe, Short stat... |
OMIM:604922 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Failure to thrive, Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia, Asym... |
OMIM:606762 |
Leishmaniasis |
|
Hepatomegaly, Splenomegaly, Leukopenia, Papule, Abnormal macrophage morphology, Thrombocytopenia,... |
ORPHA:507 |
Juvenile Paget Disease |
|
Recurrent fractures, Abnormal clavicle morphology, Short stature, Osteoporosis, Pectus carinatum,... |
ORPHA:2801 |
Axial Spondylometaphyseal Dysplasia |
|
Mild postnatal growth retardation, Osteopenia, Platyspondyly, Upper limb undergrowth, Disproporti... |
ORPHA:168549 |
Infantile Myofibromatosis |
|
Neoplasm of the pancreas, Bone cyst, Neoplasm of the lung, Osteolysis, Hypercalcemia, Subcutaneou... |
ORPHA:2591 |
Solitary Fibrous Tumor/Hemangiopericytoma |
|
Hypophosphatemic rickets, Neoplasm of the liver, Hypoinsulinemia, Neoplasm of the lung, Abnormali... |
ORPHA:2126 |
Epiphyseal Dysplasia, Multiple, 1 |
|
Irregular vertebral endplates, Joint stiffness, Delayed epiphyseal ossification, Epiphyseal dyspl... |
OMIM:132400 |
Spondyloepimetaphyseal Dysplasia, Di Rocco Type |
|
Bowing of the legs, Metaphyseal dysplasia, Delayed ossification of carpal bones, Reduced bone min... |
OMIM:617974 |
Ulna Metaphyseal Dysplasia Syndrome |
|
Hypercalcemia |
OMIM:191420 |
Fanconi Renotubular Syndrome 2 |
|
Osteopenia, Hypophosphatemia, Rickets |
OMIM:613388 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypophosphatemic rickets, Hypophosphatemia, Elevated circulating parathyroid hormone level, Hyper... |
OMIM:612089 |
Paget Disease Of Bone 2, Early-Onset |
|
Sandwich appearance of vertebral bodies, Sclerosis of skull base, Short femur, Fractures of the l... |
OMIM:602080 |
Albers-Schönberg Osteopetrosis |
|
Short distal phalanx of finger, Recurrent fractures, Mandibular osteomyelitis, Osteomyelitis, Hyp... |
ORPHA:53 |
Kenny-Caffey Syndrome, Type 2 |
|
Hypocalcemia, Severe short stature, Increased bone mineral density, Small for gestational age, Sh... |
OMIM:127000 |
Multiple Enchondromatosis, Maffucci Type |
|
Multiple enchondromatosis, Pathologic fracture |
OMIM:614569 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypoglycemia, Hypertriglyceridemia |
ORPHA:366 |
Growth Factors, Combined Defect Of |
|
Flexion contracture, Thin skin, Dermal atrophy, Insulin-resistant diabetes mellitus |
OMIM:233805 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Precocious puberty, Postnatal growth retardation, Joint hypermobility, Maturity-onset diabetes of... |
ORPHA:254531 |
Dysplasia Epiphysealis Hemimelica |
|
Recurrent fractures, Joint stiffness, Abnormality of femur morphology, Abnormal femoral neck morp... |
ORPHA:1822 |
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy |
|
Recurrent fractures, Abnormal calcium-phosphate regulating hormone level, Precocious puberty, Hyp... |
ORPHA:457059 |
Neonatal Severe Primary Hyperparathyroidism |
|
Narrow chest, Recurrent fractures, Abnormal metaphysis morphology, Short stature |
ORPHA:417 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Neonatal hypoglycemia, Large for gestational age, Truncal obesity |
OMIM:240900 |
Dysosteosclerosis |
|
Short sternum, Osteopenia, Platyspondyly, Sclerotic scapulae, Broad ribs, Progressive bowing of l... |
OMIM:224300 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplas... |
ORPHA:276580 |
Rhabdoid Tumor |
|
Neoplasm of the liver, Thrombocytopenia, Weight loss, Hypercalcemia, Subcutaneous nodule, Anemia,... |
ORPHA:69077 |
Epiphyseal Dysplasia, Multiple, 3 |
|
Delayed epiphyseal ossification, Epiphyseal dysplasia, Osteoarthritis, Elevated circulating creat... |
OMIM:600969 |
Isolated Growth Hormone Deficiency, Type Ia |
|
Hypoglycemia, Reduced circulating growth hormone concentration, Decreased serum insulin-like grow... |
OMIM:262400 |
Pseudohypoparathyroidism Type 1A |
|
Hypergonadotropic hypogonadism, Elevated circulating parathyroid hormone level, Short 3rd metacar... |
ORPHA:79443 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hyperlipidemia, Xanthomatosis, Hypoglycemia, Hyperuricemia, Recurrent respiratory infections |
ORPHA:364 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Recurrent fractures, Abnormal hip bone morphology, Short stature, Short neck, Abnormal form of th... |
ORPHA:1486 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Growth delay, Cortical thickening of long bone diaphyses, Hypocalcemia, Postnatal growth retardat... |
ORPHA:93324 |
Late-Onset Isolated Acth Deficiency |
|
Hypoparathyroidism, Failure to thrive, Adrenocorticotropic hormone deficiency, Graves disease, Pi... |
ORPHA:199299 |
Hypercalcemia, Infantile, 2 |
|
Renal phosphate wasting, Failure to thrive, Hypophosphatemia, Polyuria, Hypercalciuria, Hypercalc... |
OMIM:616963 |
Erythroderma, Lethal Congenital |
|
Failure to thrive, Hypoalbuminemia |
OMIM:227090 |
Osteogenesis Imperfecta, Type Viii |
|
Osteopenia, Decreased calvarial ossification, Barrel-shaped chest, Femoral bowing, Platyspondyly,... |
OMIM:610915 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Irregular vertebral endplates, Hip contracture, Advanced ossification of carpal bones, Kyphoscoli... |
OMIM:618363 |
Pseudoachondroplasia |
|
Fragmented epiphyses, Irregular carpal bones, Fragmented, irregular epiphyses, Platyspondyly, Sma... |
OMIM:177170 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Failure to thrive, Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia |
OMIM:615863 |
Pparg-Related Familial Partial Lipodystrophy |
|
Pancreatitis, Hepatomegaly, Splenomegaly, Cirrhosis, Xanthomatosis, Maternal diabetes, Aplasia/Hy... |
ORPHA:79083 |
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
|
Coxa vara, Flat capital femoral epiphysis, Short femur, Micrognathia, Wide capital femoral epiphy... |
OMIM:147891 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hypophosphatemia, Hepatomegaly, Glycosuria, Hypoglycemia, Large for gestational age, Diabetes mel... |
OMIM:616026 |
Geroderma Osteodysplastica |
|
Recurrent fractures, Beaking of vertebral bodies, Abnormal bone ossification, Severe short statur... |
ORPHA:2078 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Cone-shaped epiphyses of the phalanges of the hand, Platyspondyly, Distal ulnar epiphyseal stippl... |
OMIM:609616 |
Fanconi-Bickel Syndrome |
|
Hepatomegaly, Osteopenia, Glycosuria, Bowing of the long bones, Renal tubular acidosis, Diabetes ... |
ORPHA:2088 |
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type |
|
Coxa vara, Severe short stature, Short long bone, Enlarged metaphyses, Platyspondyly, Irregular f... |
OMIM:618728 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplas... |
ORPHA:276575 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Hypoparathyroidism, Hip contracture, Hypophosphatemia, Clinodactyly of the 5th finger, Metaphysea... |
OMIM:156400 |
Galactokinase Deficiency |
|
Increased level of galactitol in urine, Failure to thrive, Hyperinsulinemia, Hepatomegaly, Small ... |
ORPHA:79237 |
Thyroid Hormone Metabolism, Abnormal, 2 |
|
Elevated circulating reverse T3 concentration, Elevated circulating rT3/T3 ratio, Hypercholestero... |
OMIM:619855 |
3-Methylcrotonyl-Coa Carboxylase Deficiency |
|
Abnormal circulating leucine concentration, Hypoglycemia, Failure to thrive in infancy, Hyperammo... |
ORPHA:6 |
Malignant Hyperthermia, Susceptibility To, 2 |
|
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia |
OMIM:154275 |
Short Stature Due To Partial Ghr Deficiency |
|
Hypoglycemia, Decreased serum insulin-like growth factor 1, Delayed puberty |
ORPHA:314802 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hepatosplenomegaly, Abnormal pulmonary interstitial morphology, Hypothyroidism, Hypertriglyceride... |
OMIM:619013 |
Pituitary Adenoma 4, Acth-Secreting |
|
Abdominal obesity, Glucose intolerance, Pituitary adenoma, Hypokalemia, Increased circulating ACT... |
OMIM:219090 |
Autoinflammation With Infantile Enterocolitis |
|
Increased circulating ferritin concentration, Failure to thrive, Elevated circulating C-reactive ... |
OMIM:616050 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Joint stiffness, Metaphyseal irregularity, Tibial bowing, Metaphyseal cupping, Coxa vara, Narrow ... |
OMIM:608940 |
Urban-Rogers-Meyer Syndrome |
|
Recurrent fractures, Kyphosis, Clinodactyly of the 5th finger, Short stature, Camptodactyly of fi... |
ORPHA:3409 |
Osteogenesis Imperfecta, Type Xi |
|
Coxa vara, Kyphoscoliosis, Short stature, Osteopenia, Scoliosis, Biconcave vertebral bodies, Prot... |
OMIM:610968 |
Bruck Syndrome |
|
Recurrent fractures, Joint stiffness, Kyphosis, Talipes equinovarus, Short stature, Platyspondyly... |
ORPHA:2771 |
Dent Disease 1 |
|
Recurrent fractures, Delayed epiphyseal ossification, Hypophosphatemia, Sparse bone trabeculae, O... |
OMIM:300009 |
Fibrous Dysplasia Of Bone |
|
Abnormality of femur morphology, Ovarian cyst, Abnormality of the humerus, Thin bony cortex, Abno... |
ORPHA:249 |
Mpi-Cdg |
|
Failure to thrive, Hyperinsulinemic hypoglycemia, Hepatomegaly, Hypothyroidism, Hepatic fibrosis,... |
ORPHA:79319 |
Oculoskeletodental Syndrome |
|
Hypocalcemia, Hepatomegaly, Splenomegaly, Renal agenesis, Small for gestational age, Short statur... |
OMIM:618440 |
Osteogenesis Imperfecta, Type Vi |
|
Beaking of vertebral bodies, Coxa vara, Biconcave vertebral bodies, Protrusio acetabuli, Joint la... |
OMIM:613982 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Growth delay, Cortical thickening of long bone diaphyses, Postnatal growth retardation, Stenosis ... |
ORPHA:93325 |
Achondrogenesis Type 1A |
|
Narrow chest, Recurrent fractures, Severe short stature, Multiple rib fractures, Short neck, Micr... |
ORPHA:93299 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Vertebral segmentation defect, Rib fusion, Contracture of the proximal interphalangeal joint of t... |
OMIM:609813 |
Laron Syndrome |
|
Abnormality of the endocrine system, Short toe, Severe short stature, Hypoplasia of penis, Microg... |
ORPHA:633 |
Fanconi-Bickel Syndrome |
|
Hypouricemia, Hypophosphatemia, Osteomalacia, Hypokalemia |
OMIM:227810 |
Malignant Hyperthermia, Susceptibility To, 3 |
|
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia |
OMIM:154276 |
Macroepiphyseal Dysplasia With Osteoporosis, Wrinkled Skin, And Aged Appearance |
|
Recurrent fractures, Epiphyseal dysplasia, Short stature, Osteoporosis, Joint laxity |
OMIM:248010 |
Angioosteohypotrophic Syndrome |
|
Hypoplasia of the radius, Short humerus, Upper limb undergrowth, Abnormal trabecular bone morphol... |
ORPHA:75508 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplasia, Increased C-pe... |
ORPHA:276556 |
Primary Pigmented Nodular Adrenocortical Disease |
|
Abdominal obesity, Glucose intolerance, Paradoxical increased cortisol secretion on dexamethasone... |
ORPHA:189439 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Pectus excavatum, Femoral bowing, Platyspondyly, Micromelia, Small epiphyses, Ovoid vertebral bod... |
OMIM:608728 |
Blue Diaper Syndrome |
|
Hypercalcemia, Abnormal circulating tryptophan concentration |
OMIM:211000 |
Hyperphosphatemia, Polyuria, And Seizures |
|
Hyperphosphatemia |
OMIM:239350 |
Hyperparathyroidism, Neonatal Severe |
|
Failure to thrive, Metaphyseal irregularity, Hypophosphatemia, Hepatomegaly, Aminoaciduria, Recur... |
OMIM:239200 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Asymptomatic hype... |
ORPHA:35878 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi... |
ORPHA:79506 |
Diffuse Neonatal Hemangiomatosis |
|
Abnormal vagina morphology, Renal hypoplasia/aplasia, Hepatomegaly, Renal insufficiency, Hypercal... |
ORPHA:2123 |
Mycetoma |
|
Osteomyelitis, Bone cyst, Back pain, Osteoporosis, Abnormal form of the vertebral bodies, Patholo... |
ORPHA:2583 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Ectrodactyly, Aplasia/Hypoplasia... |
ORPHA:3329 |
Oncogenic Osteomalacia |
|
Abnormality of femur morphology, Tibial bowing, Hypophosphatemia, Fibrous dysplasia of the bones,... |
ORPHA:352540 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Paradoxical increased cortisol secretion on dexamethasone suppression test, Pigmented micronodula... |
OMIM:610475 |
Calvarial Doughnut Lesions With Bone Fragility |
|
Recurrent fractures, Severe short stature, Osteopenia, Femoral bowing, Platyspondyly, Scoliosis, ... |
OMIM:126550 |
Diastrophic Dysplasia |
|
Abnormal clavicle morphology, Micromelia, Symphalangism affecting the phalanges of the hand, Ulna... |
ORPHA:628 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Precocious puberty, Postnatal growth retardation, Joint hypermobility, Small for gestational age,... |
ORPHA:96184 |
Osteosclerosis With Ichthyosis And Fractures |
|
Recurrent fractures, Tibial bowing, Cortical thickening of long bone diaphyses, Increased bone mi... |
OMIM:166740 |
Hypoplastic Femurs And Pelvis |
|
Hypoplastic pelvis, Short femur |
OMIM:619545 |
Gracile Bone Dysplasia |
|
Failure to thrive, Hypocalcemia, Micropenis, Short stature, Flared metaphysis, Brachydactyly, Sle... |
OMIM:602361 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatocellular necrosis, Failure to thrive, Hepatomegaly, Micronodular cirrhosis, Hyperbilirubine... |
OMIM:251880 |
Osteoporosis-Pseudoglioma Syndrome |
|
Abnormal femoral neck/head morphology, Short stature, Osteopenia, Metaphyseal widening, Osteoporo... |
ORPHA:2788 |
Osteoporosis, Childhood- Or Juvenile-Onset, With Developmental Delay |
|
Recurrent fractures, Osteopenia |
OMIM:619884 |
Osteopetrosis, Autosomal Dominant 2 |
|
Recurrent fractures, Mandibular osteomyelitis, Osteopetrosis, Fractures of the long bones, Abnorm... |
OMIM:166600 |
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Coxa vara, Metaphyseal irregularity, Metaphyseal dysplasia, Flexion contracture, Short ribs, Abno... |
OMIM:613330 |
Granulomatous Slack Skin |
|
Nephrocalcinosis, Acute kidney injury, Hypercalcemia, Abnormality of the lymph nodes |
ORPHA:33111 |
Familial Expansile Osteolysis |
|
Thin bony cortex, Pathologic fracture, Osteolysis, Bowing of the long bones, Bone pain |
OMIM:174810 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Metaphyseal sclerosis, Femoral bowing, Distal tibial bowing, Platyspondyly, Irregular acetabular ... |
OMIM:156500 |
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Failure to thrive, Thin skin, Flexion contracture |
ORPHA:157965 |
Glycerol Kinase Deficiency |
|
Adrenal insufficiency, Small for gestational age, Short stature, Increased urinary glycerol, Oste... |
OMIM:307030 |
Alg6-Cdg |
|
Increased circulating androgen concentration, Failure to thrive, Decreased LDL cholesterol concen... |
ORPHA:79320 |
Osteogenesis Imperfecta, Type Xviii |
|
Recurrent fractures, Thin ribs, Femoral bowing, Biconcave vertebral bodies, Thin bony cortex, Joi... |
OMIM:617952 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Paradoxical increased cortisol secretion on dexamethasone suppression test, Increased serum testo... |
OMIM:610489 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Narrow chest, Metaphyseal cupping, Severe limb shortening, Neonatal short-limb short stature, Thi... |
OMIM:151210 |
2P21 Microdeletion Syndrome |
|
Nephrolithiasis, Failure to thrive, Hypocalcemia, Cystinuria, Hypoglycemia, Hypogonadism, Growth ... |
ORPHA:163693 |
Epiphyseal Dysplasia, Multiple, 7 |
|
Epiphyseal dysplasia, Advanced ossification of carpal bones, Monkey wrench femoral neck, Hypoplas... |
OMIM:617719 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Hyperammonemia, Small for gestational age, Increased serum pyruvate, Elevated circulating sebacic... |
OMIM:615160 |
Acrodysostosis With Multiple Hormone Resistance |
|
Elevated circulating parathyroid hormone level, Cone-shaped epiphysis, Hypogonadism, Intrauterine... |
ORPHA:280651 |
Focal Segmental Glomerulosclerosis 1 |
|
Anemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:603278 |
Addison Disease |
|
Thymoma, Decreased circulating cortisol level, Increased circulating renin level, Androgen insuff... |
ORPHA:85138 |
Femoral-Facial Syndrome |
|
Coxa vara, Renal hypoplasia/aplasia, Talipes equinovarus, Aplasia/Hypoplasia of the tibia, Short ... |
ORPHA:1988 |
Heart Defects-Limb Shortening Syndrome |
|
Narrow chest, Kyphosis, Accelerated skeletal maturation, Mesomelic/rhizomelic limb shortening, Ab... |
ORPHA:1354 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Hepatocellular adenoma, Polycystic ovaries, Increased body weight, Renal tubular ac... |
ORPHA:79240 |
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Toe clinodactyly, Short stature, Upper limb undergrowth, Pathologic fracture, Short foot, Abnorma... |
ORPHA:166277 |
Hemochromatosis, Neonatal |
|
Increased circulating ferritin concentration, Hepatocellular necrosis, Cirrhosis, Cholestasis, Ab... |
OMIM:231100 |
Mandibuloacral Dysplasia |
|
Glucose intolerance, Hyperinsulinemia, Increased circulating free fatty acid level, Acroosteolysi... |
ORPHA:2457 |
Osteogenesis Imperfecta, Type Iv |
|
Recurrent fractures, Kyphosis, Femoral bowing present at birth, straightening with time, Reduced ... |
OMIM:166220 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia |
OMIM:145600 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Pancreatitis, Hepatomegaly, Splenomegaly, Xanthomatosis, Aplasia/Hypoplasia of the skin, Hypertri... |
ORPHA:2348 |
Dyggve-Melchior-Clausen Disease |
|
Broad carpal bones, Short neck, Platyspondyly, Hypoplasia of the capital femoral epiphysis, Pectu... |
ORPHA:239 |
Geroderma Osteodysplasticum |
|
Irregular vertebral endplates, Recurrent fractures, Tibial bowing, Beaking of vertebral bodies, K... |
OMIM:231070 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Coxa vara, Tibial bowing, Metaphyseal cupping, Radial bowing, Flared iliac wing, Femoral bowing, ... |
OMIM:602111 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Coxa vara, Metaphyseal dysplasia, Lumbar hyperlordosis, Hypoplastic sacrum, Osteoarthritis, Platy... |
OMIM:271650 |
Hypophosphatemic Rickets |
|
Periapical tooth abscess, Elevated circulating parathyroid hormone level, Hypocalciuria, Bowing o... |
ORPHA:437 |
Hypervitaminosis A, Susceptibility To |
|
Abnormality of the liver, Hypercalcemia |
OMIM:240150 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Calvarial hyperostosis, Short stature, Elevated circulating creatine kinase concentration, Abnorm... |
ORPHA:52430 |
Osteopenia-Intellectual Disability-Sparse Hair Syndrome |
|
Recurrent fractures, 2-3 toe syndactyly, Osteopenia, Postnatal growth retardation, Delayed skelet... |
ORPHA:2324 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Cholestasis, Hepatocellular adenoma, Polycystic ovaries, Increased body weight, Por... |
ORPHA:264580 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Nephrolithiasis, Hurthle cell thyroid adenoma, Parathyroid adenoma, Parathyroid carcinoma, Nephro... |
OMIM:145001 |
Polyendocrine-Polyneuropathy Syndrome |
|
Short stature, Hypoglycemia, Hypogonadism, Postnatal growth retardation, Central hypothyroidism |
OMIM:616113 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Central hypothyroidism, Secondary amenorrhea, Inappropriately normal thyroid-stimulating hormone ... |
OMIM:301033 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Neutropenia, Hepatomegaly, Elevated circulating C-reactive protein concentration, Hemophagocytosi... |
OMIM:308240 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Elevated circulating growth hormone concentration, Hyperinsulinemic hypoglycemia, Increased circu... |
ORPHA:79644 |
Short Stature, Dauber-Argente Type |
|
Decreased fibular diameter, Reduced bone mineral density, Arachnodactyly, Osteopenia, Short statu... |
OMIM:619489 |
Spondyloepiphyseal Dysplasia Tarda, Kohn Type |
|
Short stature, Platyspondyly, Abnormal ilium morphology, Disproportionate short-trunk short statu... |
ORPHA:163665 |
Pituitary Hormone Deficiency, Combined, 4 |
|
Adrenal insufficiency, Short stature, Severe postnatal growth retardation, Pituitary dwarfism, Hy... |
OMIM:262700 |
Greenberg Dysplasia |
|
Anterior rib punctate calcifications, Short metacarpal, Horizontal sacrum, Barrel-shaped chest, P... |
OMIM:215140 |
Myopathy, Tubular Aggregate, 2 |
|
Hypocalcemia, Elevated circulating creatine kinase concentration, Flexion contracture |
OMIM:615883 |
Hypertriglyceridemia 2 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:619324 |
Chylomicron Retention Disease |
|
Failure to thrive, Decreased LDL cholesterol concentration, Hypocholesterolemia, Hypotriglyceride... |
OMIM:246700 |
Spondyloepiphyseal Dysplasia Congenita |
|
Laryngotracheomalacia, Dysplasia of the femoral head, Reduced bone mineral density, Abnormally os... |
ORPHA:94068 |
Glycogen Storage Disease Ixa1 |
|
Hepatomegaly, Splenomegaly, Hypoglycemia, Hypertriglyceridemia, Hyperuricemia, Hypercholesterolemia |
OMIM:306000 |
Dent Disease 2 |
|
Hypophosphatemia, Elevated circulating creatine kinase concentration |
OMIM:300555 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Recurrent fractures, Episodic hemolytic anemia, Increased blood urea nitrogen, Short stature, Cra... |
ORPHA:251004 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Decreased fibular diameter, Flexion contracture, Short ribs, Multiple rib fractures, Osteopenia, ... |
OMIM:616897 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:607250 |
Osteochondrosis Of The Metatarsal Bone |
|
Joint stiffness, Sclerosis of foot bone, Thickened cortex of bones, Arthritis |
ORPHA:564003 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Increased circulating cortisol level, Osteopenia, Osteoporosis, Truncal obesity, Adrenal hyperpla... |
OMIM:219080 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Metaphyseal irregularity, Coxa vara, Severe short stature, Narrow greater sciatic notch, Club-sha... |
OMIM:184250 |
Craniodiaphyseal Dysplasia |
|
Abnormal rib morphology, Diaphyseal thickening, Craniofacial hyperostosis, Short stature |
ORPHA:1513 |
Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
Sclerosteosis |
|
Abnormal cortical bone morphology, Increased bone mineral density, Craniofacial hyperostosis |
ORPHA:3152 |
Spondylometaphyseal Dysplasia, A4 Type |
|
Coxa vara, Severe short stature, Platyspondyly, Micromelia, Short palm, Flared, irregular rib end... |
ORPHA:168555 |
Congenital Generalized Lipodystrophy |
|
Amenorrhea, Failure to thrive, Precocious puberty in females, Hyperinsulinemia, Hepatomegaly, Bon... |
ORPHA:528 |
Fanconi Renotubular Syndrome 5 |
|
Lung adenocarcinoma, Hypophosphatemic rickets, Hypophosphatemia, Glycosuria, Emphysema, Pulmonary... |
OMIM:618913 |
Nephrotic Syndrome, Type 14 |
|
Adrenal insufficiency, Nephrotic syndrome, Lymphopenia, Diffuse mesangial sclerosis, Micropenis, ... |
OMIM:617575 |
Shashi-Pena Syndrome |
|
Nevus, Hypoglycemia, Osteoporosis |
OMIM:617190 |
Osteosarcoma |
|
Abnormal femoral metaphysis morphology, Abnormal tibial metaphysis morphology, Pathologic fractur... |
ORPHA:668 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Rickets of the lower limbs, Pseudo-fractures, Hypophosphatemic rickets, Increased bone mineral de... |
ORPHA:289176 |
Linear Verrucous Nevus Syndrome |
|
Hypophosphatemia, Reduced bone mineral density, Scoliosis, Short metacarpal, Toe syndactyly |
ORPHA:2611 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Failure to thrive, Hepatomegaly, Hyperinsulinemic hypoglycemia, Cirrhosis, Hepatic fibrosis, Hypo... |
OMIM:602579 |
Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Delayed epiphyseal ossification, Pectus excavatum, Spindle-shaped finger, Short stature, Cutaneou... |
ORPHA:166024 |
Hyperparathyroidism 1 |
|
Primary hyperparathyroidism, Hypercalcemia |
OMIM:145000 |
Osteogenesis Imperfecta, Type Xv |
|
Recurrent fractures, Thin ribs, Short stature, Platyspondyly, Scoliosis, Joint hypermobility, Bow... |
OMIM:615220 |
Multiple Endocrine Neoplasia, Type I |
|
Pituitary adenoma, Elevated circulating growth hormone concentration, Glucagonoma, Parathyroid ad... |
OMIM:131100 |
Dyggve-Melchior-Clausen Disease |
|
Cone-shaped epiphyses of the phalanges of the hand, Prominent sternum, Femoral bowing, Barrel-sha... |
OMIM:223800 |
Nephrotic Syndrome, Type 15 |
|
Hypoalbuminemia |
OMIM:617609 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypophosphatemia, Osteomalacia, Hypercalcemia, Hypermagnesemia |
OMIM:600740 |
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts |
|
Decreased calvarial ossification, Bowing of limbs due to multiple fractures, Thin skin, Multiple ... |
OMIM:259410 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Hyperlipidemia, Insulin resistance, Acroosteolysis of distal phalanges (feet), Osteolysis, Osteol... |
ORPHA:90154 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Failure to thrive, Hypocalcemia, Talipes equinovarus, Micropenis, Small for gestational age, Hypo... |
OMIM:607143 |
Dysosteosclerosis |
|
Irregular vertebral endplates, Recurrent fractures, Hypoplastic vertebral bodies, Increased bone ... |
ORPHA:1782 |
Ornithine Transcarbamylase Deficiency |
|
Hypoglycemia, Splenomegaly, Hyperammonemia |
ORPHA:664 |
Weismann-Netter Syndrome |
|
Abnormality of femur morphology, Tibial bowing, Kyphosis, Severe short stature, Abnormal morpholo... |
ORPHA:3344 |
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Failure to thrive, Renal tubular acidosis, Hypercalciuria, Hypercalcemia, Hyperparathyroidism, Ne... |
OMIM:239199 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Abnormal humeral metaphysis morphology, Platyspondyly, Pectus carinatum, Disproportionate short-t... |
ORPHA:93314 |
Multiple Myeloma |
|
Splenomegaly, Osteopenia, Hyperproteinemia, Pathologic fracture, Elevated circulating creatinine ... |
ORPHA:29073 |
Dysspondyloenchondromatosis |
|
Vertebral segmentation defect, Kyphoscoliosis, Generalized joint laxity, Short stature, Osteoarth... |
ORPHA:85198 |
Pseudoprogeria Syndrome |
|
Joint stiffness, Decreased body weight, Failure to thrive, Thin skin |
ORPHA:2985 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Pancreatitis, Microcytic anemia, Hypoalbuminemia, Hepatic steatosis, Failure to thr... |
OMIM:618805 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Narrow chest, Abnormal clavicle morphology, Short neck, Platyspondyly, Abnormal rib morphology, R... |
ORPHA:93267 |
Hypoglycemia, Leucine-Induced |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
Gorham-Stout Disease |
|
Abnormality of femur morphology, Osteomyelitis, Abnormal bone ossification, Abnormality of finger... |
ORPHA:73 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Cone-shaped epiphyses of the phalanges of the hand, Halberd-shaped pelvis, Platyspondyly, Short n... |
OMIM:184252 |
Congenital Lethal Erythroderma |
|
Failure to thrive, Hypoalbuminemia |
ORPHA:1954 |
Osteofibrous Dysplasia, Susceptibility To |
|
Pectus excavatum, Fibular hypoplasia, Pseudoarthrosis, Pathologic fracture |
OMIM:607278 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Elevated creatine kinase after exercise, Annular cutaneous lesion, Erythematous plaque, Intermitt... |
ORPHA:284426 |
Nephrotic Syndrome, Type 9 |
|
Hypoalbuminemia |
OMIM:615573 |
Acute Adrenal Insufficiency |
|
Failure to thrive, Decreased circulating aldosterone level, Decreased circulating cortisol level,... |
ORPHA:95409 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Hyperalaninemia, Failure to thrive, Hypoglycemia, Small for gestational age |
OMIM:614702 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Hypophosphatemia, Renal tubular atrophy, Aminoaciduria, Short stature, Hyposthenuria, Glycosuria,... |
OMIM:308990 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Failure to thrive, Precocious puberty, Congenital hypothyroidism, Hypoglycemia, Hyponatremia, Hyp... |
OMIM:614736 |
Osteopetrosis, Autosomal Recessive 1 |
|
Sandwich appearance of vertebral bodies, Coxa vara, Failure to thrive, Osteomyelitis, Hypocalcemi... |
OMIM:259700 |
Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Recurrent fractures, Short stature, Reduced bone mineral density, Osteoporosis, Delayed puberty, ... |
ORPHA:2410 |
Ghosal Hematodiaphyseal Dysplasia |
|
Abnormality of femur morphology, Craniofacial hyperostosis, Abnormal form of the vertebral bodies... |
ORPHA:1802 |
Buschke-Ollendorff Syndrome |
|
Joint stiffness, Recurrent fractures, Flexion contracture, Craniosynostosis, Cutaneous finger syn... |
ORPHA:1306 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Calcinosis, Hyperphosphatemia, Hyperostosis, Subperiosteal bone formation |
OMIM:211900 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Increased circulating ferritin concentration, Failure to thrive, Hepatomegaly, Hypoproteinemia, I... |
OMIM:267700 |
Mccune-Albright Syndrome |
|
Abnormality of femur morphology, Pancreatitis, Abnormal endocrine physiology, Ovarian cyst, Chole... |
ORPHA:562 |
Wolcott-Rallison Syndrome |
|
Exocrine pancreatic insufficiency, Decreased body weight, Hepatomegaly, Hyperbilirubinemia, Lymph... |
ORPHA:1667 |
Kenny-Caffey Syndrome, Type 1 |
|
Hypomagnesemia, Hypocalcemia, Thin ribs, Long clavicles, Small hand, Thin clavicles, Birth length... |
OMIM:244460 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia, Hepatomegaly |
OMIM:609016 |
Exostoses-Anetodermia-Brachydactyly Type E Syndrome |
|
Aplasia/Hypoplasia of the skin, Macule, Dermal atrophy |
ORPHA:1962 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Metaphyseal irregularity, Tibial bowing, Femoral bowing, Flared metaphysis, Genu varum, Flattened... |
ORPHA:93356 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Hypoglycemia, Hepatomegaly |
OMIM:615158 |
Dent Disease |
|
Recurrent fractures, Delayed epiphyseal ossification, Sparse bone trabeculae, Renal hypophosphate... |
ORPHA:1652 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Decreased prealbumin level, Type I diabetes mellitus, Pneumonia, Failure to thrive in infancy, Ab... |
ORPHA:37042 |
Cystinosis |
|
Failure to thrive, Nephrogenic diabetes insipidus, Hypophosphatemia, Hypokalemia, Hypothyroidism,... |
ORPHA:213 |
Propionic Acidemia |
|
Hypoglycemia, Hepatomegaly, Hyperammonemia |
ORPHA:35 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Hypoglycemia, Failure to thrive, Hyperinsulinemia |
OMIM:606528 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia |
OMIM:608320 |
Hypercholanemia, Familial 1 |
|
Rickets, Increased serum bile acid concentration, Steatorrhea |
OMIM:607748 |
3-Methylglutaconic Aciduria Type 1 |
|
Hypoglycemia, Failure to thrive, Hepatomegaly |
ORPHA:67046 |
Infantile Systemic Hyalinosis |
|
Recurrent fractures, Joint stiffness, Steatorrhea, Osteopenia, Camptodactyly of finger, Osteomala... |
ORPHA:2176 |
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone |
|
Hypoglycemia |
OMIM:223500 |
Sitosterolemia 2 |
|
Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
Grant Syndrome |
|
Sprengel anomaly, Narrow chest, Short stature, Abnormality of the glenoid fossa, Decreased skull ... |
ORPHA:2097 |
Mesomelic Dysplasia, Kantaputra Type |
|
Vertebral segmentation defect, Clinodactyly of the 5th finger, Short stature, Camptodactyly of fi... |
ORPHA:1836 |
Carnitine Deficiency, Systemic Primary |
|
Failure to thrive, Hepatomegaly, Hyperammonemia, Hypoglycemia, Decreased plasma carnitine, Decrea... |
OMIM:212140 |
Silver-Russell Syndrome 2 |
|
Neonatal hypoglycemia, Thin skin |
OMIM:618905 |
Spastic Paraplegia-Paget Disease Of Bone Syndrome |
|
Recurrent fractures, Bone pain, Increased spinal bone density |
ORPHA:329475 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypo... |
OMIM:256450 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Adrenal insufficiency, Pancreatitis, Elevated circulating creatine kinase concentration, Hypoglyc... |
OMIM:619386 |
Genetic Recurrent Myoglobinuria |
|
Dark urine, Recurrent myoglobinuria, Hypocalcemia, Oliguria, Hyperphosphatemia, Renal insufficien... |
ORPHA:99845 |
Parathyroid Carcinoma |
|
Hyperparathyroidism, Hypercalcemia, Parathyroid carcinoma |
OMIM:608266 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Distal shortening of limbs, Metaphyseal cupping of proximal phalanges, Metaphyseal cupping, Thin ... |
OMIM:300863 |
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Slender build, Failure to thrive, Slender long bones with narrow diaphyses, Abnormal rib cage mor... |
OMIM:608154 |
Glucocorticoid Deficiency 3 |
|
Recurrent hypoglycemia |
OMIM:609197 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Increased circulating ferritin concentration, Hypoplasia of the thymus, B lymphocytopenia, T lymp... |
OMIM:619313 |
Orthostatic Hypotension 1 |
|
Hypomagnesemia, Increased blood urea nitrogen, Reduced circulating prolactin concentration, Joint... |
OMIM:223360 |
Greenberg Dysplasia |
|
Narrow chest, Severe short-limb dwarfism, Abnormal bone ossification, Anterior rib punctate calci... |
ORPHA:1426 |
Marshall-Smith Syndrome |
|
Failure to thrive, Accelerated skeletal maturation, Reduced bone mineral density, Craniosynostosi... |
ORPHA:561 |
Mastocytosis |
|
Macule, Recurrent fractures, Hepatomegaly, Splenomegaly, Osteoporosis, Mastocytosis, Chronic leuk... |
ORPHA:98292 |
Oculocerebrodental Syndrome |
|
Metaphyseal dysplasia, Hypocalcemia, Short stature, Short 5th finger, Hypoplasia of the capital f... |
ORPHA:557003 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Platyspondyly, Short neck, Abnormal epiphysis morphology, Generalized bone demineralization, Prem... |
ORPHA:93352 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating protein concentration, Weight loss, Abnormal circulating polysaccharide conc... |
ORPHA:103910 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus |
OMIM:602485 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
ORPHA:94124 |
Focal Segmental Glomerulosclerosis 6 |
|
Hypoalbuminemia |
OMIM:614131 |
Multiple Endocrine Neoplasia Type 4 |
|
Thymoma, Pituitary growth hormone cell adenoma, Elevated circulating parathyroid hormone level, A... |
ORPHA:276152 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Irregular vertebral endplates, Metaphyseal irregularity, Dislocated radial head, Thin ribs, Short... |
OMIM:618395 |
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
Clinodactyly of the 5th finger, Decreased body weight, Abnormal external genitalia, Small for ges... |
ORPHA:231140 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Cholestasis, Hepatocellular adenoma, Polycystic ovaries, Portal fibrosis, Renal tub... |
ORPHA:370 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Delayed proximal femoral epiphyseal ossification, Short neck, 11 pairs of ribs, Platyspondyly, Ge... |
OMIM:271640 |
Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Foot acroosteolysis, Abnormal cortical bone morphology, Osteolysis, Reduced bone mineral density |
ORPHA:970 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Failure to thrive, Severe intrauterine growth retardation, Clinodactyly of the 5th finger, Small ... |
ORPHA:73272 |
Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
Mucopolysaccharidosis Type 4 |
|
Spinal canal stenosis, Kyphosis, Reduced bone mineral density, Short stature, Short neck, Platysp... |
ORPHA:582 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Delayed epiphyseal ossification, Metaphyseal irregularity, Coxa vara, Lumbar hyperlordosis, Narro... |
OMIM:602557 |
Fructose And Galactose Intolerance |
|
Hypoglycemia |
OMIM:229500 |
Uremic Pruritus |
|
Increased blood urea nitrogen, Renal hypophosphatemia, Papule, Hypercalcemia, Hypermagnesemia |
ORPHA:94059 |
Macrophage Activation Syndrome |
|
Increased circulating ferritin concentration, Neutropenia, Hepatomegaly, Elevated circulating C-r... |
ORPHA:158061 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Recurrent fractures, Disproportionate short-limb short stature, Decreased calvarial ossification,... |
ORPHA:2772 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Cholestatic liver disease, Hepatomegaly, Prolonged neonatal jaundice, Increased LDL cholesterol c... |
OMIM:616828 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Failure to thrive, Hepatomegaly, Hypoglycemia, Decreased plasma free carnitine, Hyperalaninemia, ... |
OMIM:619048 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Hyperlipidemia, Flexion contracture, Acroosteolysis of distal phalanges (feet), Osteolysis, Osteo... |
ORPHA:90153 |
Hyperinsulinism Due To Hnf4A Deficiency |
|
Hypophosphatemic rickets, Hyperinsulinemia, Hepatomegaly, Abnormal circulating fatty-acid concent... |
ORPHA:263455 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Failure to thrive, Hepatomegaly, Cholestasis, Camptodactyly, Hypothyroidism, Elevated circulating... |
OMIM:608104 |
Glycogen Storage Disease Iii |
|
Hyperlipidemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Hypoglycemia, H... |
OMIM:232400 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral segmentation defect, Rib fusion, Short stature, Hemivertebrae, Spina bifida occulta, Ab... |
OMIM:613686 |
Immunodeficiency 43 |
|
Bronchiectasis, Recurrent respiratory infections, Hypoalbuminemia, Hypoproteinemia |
OMIM:241600 |
Interstitial Nephritis, Karyomegalic |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Glycosuria |
OMIM:614817 |
Galloway-Mowat Syndrome 6 |
|
Hypothyroidism, Decreased response to growth hormone stimulation test, Decreased body weight, Hyp... |
OMIM:618347 |
Fibrodysplasia Ossificans Progressiva |
|
Failure to thrive, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the phalanges of the hal... |
ORPHA:337 |
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency |
|
Hypoglycemia, Failure to thrive, Anemia |
OMIM:610090 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Pancreatitis, Hepatomegaly, Splenomegaly, Decreased HDL cholesterol concentration, Xanthomatosis,... |
ORPHA:280365 |
Opsismodysplasia |
|
Short neck, Rhizomelia, Severe platyspondyly, Posterior rib cupping, Short long bone, Disproporti... |
OMIM:258480 |
Absence Of Fingerprints-Congenital Milia Syndrome |
|
Camptodactyly of finger, Milia, Thin skin |
ORPHA:1658 |
Acrogeria |
|
Aplasia/Hypoplasia of the skin, Skin ulcer, Joint hyperflexibility, Thin skin |
ORPHA:2500 |
Jeune Syndrome |
|
Narrow chest, Abnormal sternum morphology, Abnormal clavicle morphology, Short stature, Cone-shap... |
ORPHA:474 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Thickened ribs, Cortical sclerosis, Diaphyseal sclerosis, Short stature, Craniofacial osteosclero... |
OMIM:122860 |
Hypercalcemia, Infantile, 1 |
|
Nephrolithiasis, Failure to thrive, Polyuria, Hypercalciuria, Infantile hypercalcemia, Weight los... |
OMIM:143880 |
Cole-Carpenter Syndrome |
|
Recurrent fractures, Kyphosis, Short stature, Crumpled long bones, Scoliosis, Abnormal form of th... |
ORPHA:2050 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Hypoglycemia, Ankle flexion contracture, Elevated circulating creatine kinase concentration, Hype... |
OMIM:618120 |
Primary Intestinal Lymphangiectasia |
|
Hypomagnesemia, Hypocalcemia, Peritoneal effusion, Lymphopenia, Hypoproteinemia, Abnormal lymphat... |
ORPHA:90362 |
Metaphyseal Dysostosis, Mental Retardation, And Conductive Deafness |
|
Broad phalanx, Genu valgum, Irregular iliac crest, Short long bone, Metaphyseal irregularity, Dis... |
OMIM:250420 |
Bartter Syndrome, Type 1, Antenatal |
|
Hyperactive renin-angiotensin system, Hyperprostaglandinuria, Renal juxtaglomerular cell hypertro... |
OMIM:601678 |
X-Linked Agammaglobulinemia |
|
Failure to thrive, Hypocalcemia, Osteomyelitis, Abnormality of the lymphatic system, Arthritis, A... |
ORPHA:47 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Hyperphosphatemia |
OMIM:614207 |
Non-Functioning Paraganglioma |
|
Elevated urinary dopamine, Paraganglioma of head and neck, Paraganglioma, Hematuria, Weight loss,... |
ORPHA:94080 |
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Short femur, Femoral bowing, Metaphyseal widening, Micrognathia, Brachydactyly, Micromelia, Hypop... |
ORPHA:440354 |
Ollier Disease |
|
Bone pain, Joint stiffness, Platyspondyly, Micromelia, Osteolysis, Abnormal cartilage morphology,... |
ORPHA:296 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Absent thumb, Short femur, Micropenis, Short tibia, Short stature, Hypoplasia of the ulna, Aplasi... |
OMIM:612447 |
Mehmo Syndrome |
|
Decreased response to growth hormone stimulation test, Small for gestational age, Micropenis, Bir... |
OMIM:300148 |
Dysplastic Cortical Hyperostosis |
|
Hepatomegaly, Increased bone mineral density, Splenomegaly, Abnormal cortical bone morphology, Ap... |
ORPHA:2204 |
Pycnodysostosis |
|
Abnormal clavicle morphology, Rhizomelia, Intrauterine growth retardation, Disproportionate short... |
ORPHA:763 |
Dermatosparaxis Ehlers-Danlos Syndrome |
|
Joint stiffness, Osteopenia, Osteomalacia, Osteoporosis, Joint hyperflexibility, Rickets |
ORPHA:1901 |
Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, Recurrent fractures, Small abnormally formed scapulae, Narrow... |
ORPHA:140 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Hypocalcemia, Splenomegaly, Elevated circulating gamma-aminobutyric acid concentration, Cholestas... |
OMIM:619658 |
Aplasia Cutis Congenita Of Limbs, Autosomal Recessive |
|
Congenital absence of skin of limbs, Aplasia cutis congenita |
OMIM:600360 |
Atelosteogenesis Type Ii |
|
Broad phalanx, Micromelia, Upper limb undergrowth, Rhizomelic arm shortening, Genu valgum, Rhizom... |
ORPHA:56304 |
Familial Osteodysplasia, Anderson Type |
|
Recurrent fractures, Kyphosis, Clinodactyly of the 5th finger, Scoliosis, Abnormal form of the ve... |
ORPHA:2769 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 |
|
Hypoalbuminemia, Periostosis, Hyperostosis |
OMIM:614441 |
Familial Hypocalciuric Hypercalcemia |
|
Renal hypophosphatemia, Osteomalacia, Hypercalcemia, Hypermagnesemia, Infantile hypercalcemia, Hy... |
ORPHA:405 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Abnormal urine output, Diffuse mesangial sclerosis, Abnormal circulating lipid concentration, Per... |
ORPHA:567548 |
Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:609968 |
Pearson Syndrome |
|
Exocrine pancreatic insufficiency, Hepatomegaly, Steatorrhea, Glycosuria, Proteinuria, Hypoplasti... |
ORPHA:699 |
Hypochondroplasia |
|
Spinal canal stenosis, Abnormality of femur morphology, Short toe, Childhood onset short-limb sho... |
ORPHA:429 |
Parathyroid Carcinoma |
|
Pancreatitis, Elevated circulating parathyroid hormone level, Weight loss, Nephrolithiasis, Thyro... |
ORPHA:143 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Upper limb metaphyseal widening, Humerus varus, Thin bony cortex, Hypoplasia of the u... |
ORPHA:85188 |
Achondrogenesis Type 1B |
|
Narrow chest, Talipes equinovarus, Severe short stature, Short neck, Micromelia, Abnormal rib mor... |
ORPHA:93298 |
Hypercholanemia, Familial, 2 |
|
Osteopenia, Unconjugated hyperbilirubinemia, Increased serum bile acid concentration |
OMIM:619256 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Failure to thrive, Decreased body weight, Skin erosion, Flexion contracture, Abnormal circulating... |
ORPHA:89842 |
Pyridoxal Phosphate-Responsive Seizures |
|
Abnormal circulating tyrosine concentration, Failure to thrive, Hypoargininemia, Abnormal circula... |
ORPHA:79096 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:144300 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Hepatic steatosis, Decreased circulating ceruloplasmin concentration, Increased LDL cholesterol c... |
OMIM:616829 |
Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
Galloway-Mowat Syndrome 8 |
|
Hypoalbuminemia |
OMIM:618349 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Splenomegaly, Adrenal calcification, Cirrhosis, Hypertriglyceridemia, Hypercholeste... |
ORPHA:75234 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hyperinsulinemia, Type II diabetes mellitus, Hypertriglyceridemia, Childhood-onset truncal obesit... |
ORPHA:71529 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Osteopenia, Cholestasis, Thin bony cortex, Pancytopenia, Bile duct proliferation, Slender build, ... |
OMIM:613658 |
Hepatoportal Sclerosis |
|
Intrahepatic portal vein sclerosis, Abnormality of the hepatic vasculature, Hyperbilirubinemia, P... |
ORPHA:64743 |
Short Stature, Brussels Type |
|
Narrow chest, Delayed epiphyseal ossification, Short stature, Calcification of cartilage, Growth ... |
ORPHA:2867 |
Lysosomal Acid Lipase Deficiency |
|
Hepatomegaly, Steatorrhea, Hepatic bridging fibrosis, Adrenal insufficiency, Splenomegaly, Cirrho... |
OMIM:278000 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Reactive hypoglycemia,... |
ORPHA:276608 |
Hypotonia-Cystinuria Syndrome |
|
Nephrolithiasis, Failure to thrive, Hypocalcemia, Decreased response to growth hormone stimulatio... |
OMIM:606407 |
Primary Membranoproliferative Glomerulonephritis |
|
Hypoalbuminemia |
ORPHA:54370 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Joint contracture of the hand, Osteopenia, Camptodactyly of finger, Joint laxity, Thin skin, Webb... |
OMIM:612350 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Failure to thrive, Hepatomegaly, Hypoglycemia, Primary adrenal insufficiency, Hypogonadism, Pancy... |
OMIM:617872 |
Nephrotic Syndrome, Type 11 |
|
Nephrotic syndrome, Renal tubular atrophy, Diffuse mesangial sclerosis, Arachnodactyly, Micrognat... |
OMIM:616730 |
Vipoma |
|
Hepatomegaly, Adrenocortical adenoma, Increased circulating prolactin concentration, Weight loss,... |
ORPHA:97282 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating acylcarnitine concentration, Failure to thrive, Hepatic steatosis, Ketotic h... |
ORPHA:26792 |
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome |
|
Recurrent fractures |
ORPHA:2773 |
Mitochondrial Pyruvate Carrier Deficiency |
|
Hypoglycemia, Increased serum pyruvate, Hepatomegaly |
OMIM:614741 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
Hypocalcemia, T lymphocytopenia |
DECIPHER:16 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Failure to thrive, Hyperbilirubinemia, Cirrhosis, Decreased HDL cholesterol concentration, Hyperm... |
OMIM:605814 |
Hemochromatosis, Type 4 |
|
Increased circulating ferritin concentration, Glucose intolerance, Hepatomegaly, Cirrhosis, Osteo... |
OMIM:606069 |
Alpha-Heavy Chain Disease |
|
Hypocalcemia, Hepatomegaly, Splenomegaly, Growth delay, Anemia, Lymphadenopathy, Premature ovaria... |
ORPHA:100025 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Ambiguous genitalia, female, Decreased fertility in males, Decreased circulating cortisol level, ... |
ORPHA:90791 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Increased circulating ferritin concentration, Failure to thrive, Hepatomegaly, Hypoproteinemia, H... |
OMIM:603553 |
Endocardial Fibroelastosis |
|
Hypoplasia of penis, Micrognathia, Anterior hypopituitarism, Hypoglycemia, Sandal gap, Cryptorchi... |
ORPHA:2022 |
Melnick-Needles Syndrome |
|
Narrow chest, Short distal phalanx of finger, Short clavicles, Cone-shaped epiphyses of the phala... |
ORPHA:2484 |
Post-Traumatic Pituitary Deficiency |
|
Amenorrhea, Growth delay, Infertility, Abnormal prolactin level, Decreased response to growth hor... |
ORPHA:95619 |
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis |
|
Elevated circulating C-reactive protein concentration, Reduced bone mineral density, Interphalang... |
ORPHA:85435 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Joint stiffness, Hyperlipoproteinemia, Flexion contracture, Abnormal circulating lipid concentrat... |
ORPHA:1979 |
Mucolipidosis Iii Gamma |
|
Joint stiffness, Kyphosis, Flat capital femoral epiphysis, Abnormal rib cage morphology, Flared i... |
OMIM:252605 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Failure to thrive, Hyperammonemia, Elevated alpha-fetoprotein, Cirrhosis, Hypoglycemia, Conjugate... |
OMIM:617049 |
Multiple Epiphyseal Dysplasia Type 5 |
|
Delayed proximal femoral epiphyseal ossification, Arthralgia of the hip, Genu valgum, Knee pain, ... |
ORPHA:93311 |
Short Syndrome |
|
Glucose intolerance, Small for gestational age, Joint laxity, Thin skin, Insulin-resistant diabet... |
OMIM:269880 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hypoglycemia, Hepatic steatosis, Impaired gluconeogenesis |
OMIM:261650 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Hyperinsulinemia, Hepatomegaly, Osteopenia, Down-sloping shoulders, Acroosteolysis of distal phal... |
OMIM:248370 |
Hypocalcemia, Autosomal Dominant 2 |
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Hypocalcemia |
OMIM:615361 |
Congenital Disorder Of Glycosylation, Type Iig |
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Vertebral segmentation defect, Butterfly vertebrae, Talipes equinovarus, Small hand, Osteopenia, ... |
OMIM:611209 |
X-Linked Ehlers-Danlos Syndrome |
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Joint hyperflexibility, Thin skin |
ORPHA:75497 |
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
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Prominent sternum, Short neck, Platyspondyly, Cone-shaped capital femoral epiphysis, Small epiphy... |
OMIM:300232 |
Maffucci Syndrome |
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Recurrent fractures, Short stature, Scoliosis, Osteolysis, Multiple enchondromatosis, Growth dela... |
ORPHA:163634 |
Hepatocellular Carcinoma |
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Abnormality of the hepatic vasculature, Hypokalemia, Hepatomegaly, Hyperbilirubinemia, Hemobilia,... |
ORPHA:88673 |
Pyruvate Dehydrogenase E3 Deficiency |
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Failure to thrive, Hepatomegaly, Hyperammonemia, Hyperisoleucinemia, Hypoglycemia, Decreased plas... |
ORPHA:2394 |
Cleidocranial Dysplasia |
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Down-sloping shoulders, Tapered finger, Genu valgum, Abnormal epiphysis morphology, Clinodactyly ... |
ORPHA:1452 |
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
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Flexion contracture, Osteopenia, Thin skin, Atrophic scars, Atypical scarring of skin, Joint hype... |
ORPHA:75496 |
Erythrocyte Lactate Transporter Defect |
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Elevated circulating creatine kinase concentration |
OMIM:245340 |
Atelosteogenesis Type I |
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Talipes equinovarus, Short femur, Abnormal ossification involving the femoral head and neck, Micr... |
ORPHA:1190 |
Timothy Syndrome |
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Hypocalcemia, Hypoglycemia, Hypothyroidism, Bronchitis, Pneumonia |
OMIM:601005 |
Osteogenesis Imperfecta, Type Vii |
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Narrow chest, Recurrent fractures, Coxa vara, Pectus excavatum, Wide anterior fontanel, Bowing of... |
OMIM:610682 |
Combined Malonic And Methylmalonic Acidemia |
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Hypoglycemia, Failure to thrive, Methylmalonic acidemia, Dicarboxylic acidemia |
ORPHA:289504 |
Spondylometaphyseal Dysplasia, Axial |
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Narrow chest, Coxa vara, Narrow greater sciatic notch, Short stature, Platyspondyly, Anterior rib... |
OMIM:602271 |
Idiopathic Juvenile Osteoporosis |
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Recurrent fractures, Kyphosis, Osteoporosis, Vertebral compression fracture, Bone pain |
ORPHA:85193 |
Hyperparathyroidism-Jaw Tumor Syndrome |
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Nephrolithiasis, Abnormality of the parathyroid morphology, Hypophosphatemia, Pancreatitis, Thyro... |
ORPHA:99880 |
Thanatophoric Dysplasia Type 1 |
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Joint stiffness, Wide anterior fontanel, Short femur, Femoral bowing, Hypoplastic ilia, Brachydac... |
ORPHA:1860 |
Epiphyseal Dysplasia, Multiple, With Miniepiphyses |
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Epiphyseal dysplasia, Generalized joint laxity, Broad femoral neck, Short femoral neck, Genu varu... |
OMIM:609325 |
Kniest Dysplasia |
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Pectus excavatum, Short neck, Platyspondyly, Disproportionate short-trunk short stature, Hypoplas... |
OMIM:156550 |
Pelviscapular Dysplasia |
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Mesomelic leg shortening, Short femur, Hypoplastic ilia, Congenital hip dislocation, Brachydactyl... |
ORPHA:93333 |
Three M Syndrome 1 |
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Growth delay, Increased vertebral height, Pectus excavatum, Clinodactyly of the 5th finger, Postn... |
OMIM:273750 |
Acropectorovertebral Dysplasia |
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Finger syndactyly, Radial deviation of the 2nd finger, Spina bifida occulta at L5, Synostosis of ... |
OMIM:102510 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
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Pancreatitis, Hepatomegaly, Osteopenia, Gout, Hepatocellular adenoma, Enlarged kidney, Proteinuri... |
ORPHA:79259 |
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality |
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Atypical scarring of skin, Striae distensae, Thin skin, Joint laxity |
OMIM:225310 |
Atelosteogenesis, Type I |
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Aplasia/Hypoplasia of the ulna, 11 pairs of ribs, Rhizomelia, Multinucleated giant chondrocytes i... |
OMIM:108720 |
Spondylometaphyseal Dysplasia, Pagnamenta Type |
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Femoral bowing, Platyspondyly, Thin bony cortex, Thoracic kyphosis, Broad thumb, Rhizomelia, Shor... |
OMIM:619638 |
Glycogen Storage Disease Ixc |
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Growth delay, Hepatomegaly, Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Hypoglyc... |
OMIM:613027 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
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Postprandial hyperglycemia, Hyperinsulinemia, Precocious puberty, Small for gestational age, Diab... |
OMIM:262190 |
Citrullinemia Type Ii |
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Acute hyperammonemia, Hyperlipidemia, Pancreatitis, Hepatomegaly, Hypoproteinemia, Delayed menarc... |
ORPHA:247585 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
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Cholelithiasis, Failure to thrive, Hepatomegaly, Splenomegaly, Cirrhosis, Osteopenia, Rickets, Co... |
OMIM:211600 |
Majeed Syndrome |
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Metaphyseal irregularity, Failure to thrive, Osteomyelit |