Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia,... |
OMIM:610021 |
Type 2 Diabetes Mellitus |
|
Insulin resistance, Increased waist to hip ratio, Type II diabetes mellitus |
OMIM:125853 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Nesidioblastosis |
OMIM:601820 |
Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:609968 |
Acid-Labile Subunit Deficiency |
|
Insulin insensitivity, Decreased serum insulin-like growth factor 1, Delayed puberty, Mild postna... |
OMIM:615961 |
Short Stature Due To Primary Acid-Labile Subunit Deficiency |
|
Truncal obesity, Delayed puberty, Insulin resistance, Growth delay, Decreased serum insulin-like ... |
ORPHA:140941 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Large for gestational age, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypo... |
OMIM:256450 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus |
OMIM:602485 |
Rhizomelic Chondrodysplasia Punctata, Type 3 |
|
Failure to thrive, Short femur, Short humerus, Rhizomelia, Epiphyseal stippling |
OMIM:600121 |
Pancreas, Dorsal, Agenesis Of |
|
Abnormality of the pancreas, Diabetes mellitus |
OMIM:167755 |
Diabetes Mellitus, Transient Neonatal, 2 |
|
Transient neonatal diabetes mellitus, Type II diabetes mellitus |
OMIM:610374 |
Hyperproinsulinemia |
|
Hyperinsulinemia, Hyperglycemia |
OMIM:616214 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Glucose intolerance, Hyperlipidemia, Sudden cardiac death, Osteoporosis, Gout, Impaired glucose t... |
OMIM:610947 |
Parana Hard-Skin Syndrome |
|
Severe postnatal growth retardation, Restricted chest movement |
OMIM:260530 |
Diabetes Mellitus, Ketosis-Prone |
|
Insulin resistance, Beta-cell dysfunction, Diabetes mellitus |
OMIM:612227 |
Hyperinsulinism Due To Insr Deficiency |
|
Hyperinsulinemic hypoglycemia, Hypoglycemia, Fasting hyperinsulinemia, Insulin resistance, Recurr... |
ORPHA:263458 |
Rhizomelic Dysplasia, Ain-Naz Type |
|
Short femur, Short humerus, Hypoplasia of the femoral head, Short femoral neck, Wide distal femor... |
OMIM:619598 |
Pancreatic Beta Cell Agenesis With Neonatal Diabetes Mellitus |
|
Neonatal insulin-dependent diabetes mellitus |
OMIM:600089 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Failure to thrive, Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia, Hypo... |
OMIM:606762 |
12q14 microdeletion syndrome |
|
Proportionate short stature, Osteopoikilosis |
DECIPHER:76 |
Insulin Autoimmune Syndrome |
|
Hyperinsulinemic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Nonketotic hypoglycemia... |
ORPHA:411593 |
Insulinomatosis And Diabetes Mellitus |
|
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Impaired glucose tolerance, Insulinoma,... |
OMIM:147630 |
Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:609975 |
Acromesomelic Dysplasia 2A |
|
Flexion contracture, Short femur, Hypoplasia of the radius, Short tibia, Short humerus, Aplasia/H... |
OMIM:200700 |
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement |
|
Insulin resistance |
OMIM:200170 |
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 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Abnormal circulating insulin concentration, Increased hepatic glycogen content, Hypoketotic hypog... |
ORPHA:293964 |
Cortisone Reductase Deficiency 2 |
|
Insulin resistance, Obesity, Premature pubarche |
OMIM:614662 |
Hypoplastic Femurs And Pelvis |
|
Hypoplastic pelvis, Short femur |
OMIM:619545 |
Acrocapitofemoral Dysplasia |
|
Cone-shaped epiphyses of the phalanges of the hand, Hypoplasia of the radius, Cone-shaped epiphys... |
OMIM:607778 |
Hyperinsulinism Due To Glucokinase Deficiency |
|
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Fasting hyper... |
ORPHA:79299 |
Multiple Epiphyseal Dysplasia With Robin Phenotype |
|
Dislocated radial head, Coxa vara, Flat capital femoral epiphysis, Talipes equinovarus, Flexion c... |
OMIM:601560 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hyperinsulinemia, Pancreatitis, Hepatomegaly, Insulin resistance, Diabetes mellitus, Polycystic o... |
ORPHA:79084 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Ectrodactyly, Aplasia/Hypoplasia... |
ORPHA:3329 |
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
|
Coxa vara, Flat capital femoral epiphysis, Short femur, Micrognathia, Wide capital femoral epiphy... |
OMIM:147891 |
Morbid Obesity And Spermatogenic Failure |
|
Type II diabetes mellitus, Increased LDL cholesterol concentration, Decreased HDL cholesterol con... |
OMIM:615703 |
Maturity-Onset Diabetes Of The Young, Type 11 |
|
Maturity-onset diabetes of the young, Obesity, Overweight, Diabetes mellitus |
OMIM:613375 |
Growth Hormone Insensitivity Syndrome |
|
Failure to thrive, Type II diabetes mellitus, Short stature, Truncal obesity, Hypoglycemia, Hypog... |
ORPHA:181393 |
Multiple Symmetric Lipomatosis |
|
Insulin resistance, Hepatomegaly |
ORPHA:2398 |
Osteochondrosis Of The Metatarsal Bone |
|
Abnormality of the third metatarsal bone, Joint stiffness, Thickened cortex of bones, Sclerosis o... |
ORPHA:564003 |
Melorheostosis With Osteopoikilosis |
|
Complete duplication of the distal phalanges of the hand, Abnormal cortical bone morphology, Hype... |
ORPHA:1879 |
Fibular Hemimelia |
|
Craniosynostosis, Talipes equinovalgus, Structural foot deformity, Arthralgia of the hip, Abnorma... |
ORPHA:93323 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Small for gestational age, Maturit... |
ORPHA:324575 |
Body Mass Index Quantitative Trait Locus 20 |
|
Obesity, Hyperinsulinemia |
OMIM:618406 |
Diabetes Mellitus, Transient Neonatal, 1 |
|
Transient neonatal diabetes mellitus, Severe failure to thrive, Intrauterine growth retardation, ... |
OMIM:601410 |
Short Stature, Dauber-Argente Type |
|
Decreased fibular diameter, Reduced bone mineral density, Arachnodactyly, Osteopenia, Long finger... |
OMIM:619489 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Hypoglycemia, Failure to thrive, Hyperinsulinemia |
OMIM:606528 |
Eiken Syndrome |
|
Epiphyseal dysplasia, Metaphyseal irregularity, Short toe, Delayed epiphyseal ossification, Abnor... |
ORPHA:79106 |
Phosphoserine Phosphatase Deficiency |
|
Postnatal growth retardation, Intrauterine growth retardation |
OMIM:614023 |
Epiphyseal Dysplasia, Multiple, 5 |
|
Epiphyseal dysplasia, Coxa vara, Metaphyseal irregularity, Delayed ossification of carpal bones, ... |
OMIM:607078 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Failure to thrive, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Centr... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Failure to thrive, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Centr... |
ORPHA:71526 |
Mandibuloacral Dysplasia |
|
Glucose intolerance, Short clavicles, Hyperinsulinemia, Insulin resistance, Micrognathia, Acroost... |
ORPHA:2457 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Obesity, Hyperinsulinemia, Short stature |
ORPHA:329249 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Obesity, Childhood-onset truncal obesity, Hyperinsulinemia, Type II diabetes mellitus |
ORPHA:71529 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Short tibia, Micromelia, Short 3rd metacarpal, Limb undergrowth, Short 2nd metacarpal, Short 4th ... |
OMIM:118651 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Abnormal circulating insulin concentration, Short stature, Decreased circulating free T3, Increas... |
ORPHA:171706 |
Transient Neonatal Diabetes Mellitus |
|
Failure to thrive, Hypoinsulinemia, Small for gestational age, Maturity-onset diabetes of the you... |
ORPHA:99886 |
Pituitary Hormone Deficiency, Combined, 4 |
|
Adrenal insufficiency, Short stature, Severe postnatal growth retardation, Pituitary dwarfism, Hy... |
OMIM:262700 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplas... |
ORPHA:276580 |
Hip Dysplasia, Beukes Type |
|
Abnormality of the epiphysis of the femoral head, Coxa vara, Abnormal bone ossification, Abnormal... |
ORPHA:2114 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Reactive hypoglycemia,... |
ORPHA:276608 |
Temple Syndrome |
|
Joint hypermobility, Flexion contracture, Small for gestational age, Small hand, Micrognathia, Ma... |
OMIM:616222 |
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 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Femoral bowing, Short long bone, Metaphyseal cupping of proximal phalanges, Metaphyseal irregular... |
ORPHA:174 |
Prader-Willi Habitus, Osteopenia, And Camptodactyly |
|
Joint contracture of the hand, Osteopenia, Osteoporosis, Camptodactyly, Enlarged epiphyses, Obesity |
OMIM:264010 |
Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Maturity-onset diabetes of the young, Diabetes mellitus, Intrauterine grow... |
OMIM:613370 |
Hypoglycemia, Leucine-Induced |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
Mody |
|
Glucose intolerance, Exocrine pancreatic insufficiency, Hypoinsulinemia, Hyperinsulinemic hypogly... |
ORPHA:552 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplas... |
ORPHA:276575 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Hyperinsulinemic hypoglycemia, Osteoporosis, Joint laxity, Delayed thelarche, Diabetes mellitus, ... |
OMIM:616033 |
Lipodystrophy-Intellectual Disability-Deafness Syndrome |
|
Slender build, Failure to thrive, Slender long bones with narrow diaphyses, Small for gestational... |
ORPHA:50811 |
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia |
|
Coxa vara, Epiphyseal dysplasia, Flat distal femoral epiphysis, Broad femoral neck, Short femoral... |
OMIM:609324 |
Body Mass Index Quantitative Trait Locus 19 |
|
Insulin resistance, Obesity, Hyperinsulinemia, Increased serum leptin |
OMIM:617885 |
Metaphyseal Chondrodysplasia, Spahr Type |
|
Metaphyseal dysplasia, Reduced bone mineral density, Genu varum, Short lower limbs, Abnormal epip... |
ORPHA:2501 |
Glycogen Storage Disease Vi |
|
Hyperlipidemia, Hepatomegaly, Increased hepatic glycogen content, Hypoglycemia, Hypertriglyceride... |
OMIM:232700 |
Epiphyseal Dysplasia, Multiple, 7 |
|
Epiphyseal dysplasia, Advanced ossification of carpal bones, Monkey wrench femoral neck, Hypoplas... |
OMIM:617719 |
Ghosal Hematodiaphyseal Dysplasia |
|
Abnormality of femur morphology, Craniofacial hyperostosis, Splenomegaly, Anemia, Abnormality of ... |
ORPHA:1802 |
Spondyloepimetaphyseal Dysplasia With Hypotrichosis |
|
Delayed epiphyseal ossification, Decreased hip abduction, Proximal humeral metaphyseal irregulari... |
OMIM:183849 |
Metaphyseal Anadysplasia 2 |
|
Bowing of the legs, Metaphyseal irregularity, Metaphyseal widening, Micromelia, Short femoral nec... |
OMIM:613073 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hyperinsulinemia, Calf muscle hypertrophy, Insulin-resistant diabetes mellitus at puberty, Hypert... |
ORPHA:280356 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Postprandial hyperglycemia, Hyperinsulinemia, Precocious puberty, Small for gestational age, Diab... |
OMIM:262190 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Metaphyseal irregularity, Tibial bowing, Femoral bowing, Flared metaphysis, Genu varum, Flattened... |
ORPHA:93356 |
Syndactyly Type 4 |
|
Short tibia, Camptodactyly of finger, 6 metacarpals, Triphalangeal thumb, Hand polydactyly, Foot ... |
ORPHA:93405 |
Congenital Generalized Lipodystrophy |
|
Failure to thrive, Precocious puberty in females, Hyperinsulinemia, Bone cyst, Hepatomegaly, Incr... |
ORPHA:528 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Hepatomegaly, Flexion contracture, Micrognathia, Osteoporosis, Hypertriglyceridemia, Diabetes mel... |
OMIM:615381 |
Atherosclerosis Susceptibility |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Myocardial infarction |
OMIM:108725 |
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, And Cerebellar Atrophy |
|
Postnatal growth retardation, Contractures of the large joints, Osteoporosis, Short stature |
OMIM:608278 |
Epiphyseal Dysplasia, Multiple, 4 |
|
Epiphyseal dysplasia, Flat capital femoral epiphysis, Talipes equinovarus, Brachydactyly, Hypopla... |
OMIM:226900 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hepatomegaly, Splenomegaly, Osteopenia, Hypocholesterolemia, Hypersplenism, Anemia, Thrombocytope... |
OMIM:610539 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Sensorineural hearing impairment, Failure to thrive, Congenital sensorineural hearing impairment,... |
ORPHA:73272 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Myocardial infarction, Hypertension, Hypercholesterolemia |
OMIM:608320 |
Obesity Due To Sim1 Deficiency |
|
Glucose intolerance, Hyperinsulinemia, Obesity |
ORPHA:369873 |
Epiphyseal Dysplasia, Multiple, 1 |
|
Joint stiffness, Delayed epiphyseal ossification, Epiphyseal dysplasia, Generalized joint laxity,... |
OMIM:132400 |
Senior-Loken Syndrome |
|
Hypertension, Cone-shaped epiphysis, Abnormality of bone mineral density, Congenital hepatic fibr... |
ORPHA:3156 |
Estrogen Resistance |
|
Glucose intolerance, Hyperinsulinemia, Impaired glucose tolerance |
OMIM:615363 |
Epiphyseal Dysplasia, Multiple, With Miniepiphyses |
|
Epiphyseal dysplasia, Generalized joint laxity, Broad femoral neck, Short femoral neck, Genu varu... |
OMIM:609325 |
Polyendocrine-Polyneuropathy Syndrome |
|
Short stature, Hypoglycemia, Hypogonadism, Postnatal growth retardation, Central hypothyroidism |
OMIM:616113 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Sensorineural hearing impairment, Failure to thrive, Joint contracture of the hand, Flexion contr... |
OMIM:214150 |
Angioosteohypotrophic Syndrome |
|
Telangiectasia of the skin, Hypoplasia of the radius, Short humerus, Upper limb undergrowth, Thin... |
ORPHA:75508 |
Pseudoachondroplasia |
|
Irregular carpal bones, Cone-shaped epiphysis, Hypoplasia of the capital femoral epiphysis, Irreg... |
ORPHA:750 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia |
ORPHA:35878 |
Lipodystrophy, Familial Partial, Type 6 |
|
Abdominal obesity, Hyperlipidemia, Abnormal circulating lipid concentration, Pes cavus, Elevated ... |
OMIM:615980 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Absent thumb, Short femur, Short tibia, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius,... |
OMIM:612447 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Elevated circulating growth hormone concentration, Hyperinsulinemic hypoglycemia, Increased circu... |
ORPHA:79644 |
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Short femur, Femoral bowing, Metaphyseal widening, Micrognathia, Brachydactyly, Micromelia, Hypop... |
ORPHA:440354 |
Femoral-Facial Syndrome |
|
Coxa vara, Aplasia/Hypoplasia of the tibia, Talipes equinovarus, Inguinal hernia, Short femur, Mi... |
ORPHA:1988 |
Morgagni-Stewart-Morel Syndrome |
|
Abnormality of the endocrine system, Abnormality of the thyroid gland, Osteoarthritis, Osteoporos... |
ORPHA:77296 |
Neutral Lipid Storage Disease With Myopathy |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Diabetes ... |
OMIM:610717 |
Glycerol Kinase Deficiency |
|
Adrenal insufficiency, Small for gestational age, Osteoporosis, Pathologic fracture, Hypoglycemia... |
OMIM:307030 |
Acquired Generalized Lipodystrophy |
|
Hyperinsulinemia, Hepatomegaly, Abnormal circulating lipid concentration, Cirrhosis, Calf muscle ... |
ORPHA:79086 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Failure to thrive, Abnormal circulating acetylcarnitine concentration, Hyperinsulinemic hypoglyce... |
ORPHA:71212 |
Placental Insufficiency |
|
Insulin resistance, Proportionate short stature, Intrauterine growth retardation, Small for gesta... |
ORPHA:439167 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Short distal phalanx of finger, Metaphyseal irregularity, Metaphyseal cupping of proximal phalang... |
OMIM:156500 |
Pituitary Hormone Deficiency, Combined Or Isolated, 7 |
|
Abdominal obesity, Decreased response to growth hormone stimulation test, Short stature, Truncal ... |
OMIM:618160 |
Obesity Due To Congenital Leptin Deficiency |
|
Hyperinsulinemia, Hypoplasia of the ovary, Decreased serum testosterone concentration, Hypergonad... |
ORPHA:66628 |
Juvenile Paget Disease |
|
Recurrent fractures, Osteoporosis, Bowing of the long bones, Hyperuricemia, Hypertension, Coarse ... |
ORPHA:2801 |
Osteoporosis |
|
Osteoporosis |
OMIM:166710 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossification, Bowing of the legs, Fai... |
OMIM:600081 |
Sclerosteosis |
|
Craniofacial hyperostosis, Increased bone mineral density, Finger syndactyly, 2-3 finger syndacty... |
ORPHA:3152 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Ulnar deviation of the hand, Metatarsal osteolysis, Hypertension, Micrognathia, Pes cavus, Osteop... |
OMIM:166300 |
Lipodystrophy, Familial Partial, Type 4 |
|
Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Insulin resistance, Hypertension, Hepa... |
OMIM:613877 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hyperinsulinemic hypoglycemia, Hepatomegaly, Excessive insulin response to glucagon test, Hypoket... |
ORPHA:276556 |
Hyperostosis Corticalis Generalisata |
|
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis, Diaphyseal t... |
ORPHA:3416 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Glucose intolerance, Short clavicles, Hyperinsulinemia, Flexion contracture, Loss of truncal subc... |
OMIM:608612 |
Thalidomide Embryopathy |
|
Aplasia/Hypoplasia of the ulna, Split hand, Aplasia/hypoplasia of the humerus, Upper limb phocome... |
ORPHA:3312 |
Lipodystrophy, Familial Partial, Type 3 |
|
Type II diabetes mellitus, Hyperinsulinemia, Cirrhosis, Decreased HDL cholesterol concentration, ... |
OMIM:604367 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Decreased fibular diameter, Flexion contracture, Adducted thumb, Short femur, Short ribs, Flared ... |
OMIM:616897 |
Osteosclerosis With Ichthyosis And Fractures |
|
Recurrent fractures, Tibial bowing, Cortical thickening of long bone diaphyses, Increased bone mi... |
OMIM:166740 |
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
Weismann-Netter Syndrome |
|
Abnormality of femur morphology, Tibial bowing, Abnormality of the thyroid gland, Abnormal morpho... |
ORPHA:3344 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hyperinsulinemia, Hypoplasia of the ovary, Decreased serum testosterone concentration, Hypergonad... |
ORPHA:179494 |
Endosteal Hyperostosis, Worth Type |
|
Craniofacial hyperostosis, Clavicular sclerosis, Generalized osteosclerosis, Abnormal cortical bo... |
ORPHA:2790 |
Slc35A2-Cdg |
|
Precocious puberty, Talipes equinovarus, Craniosynostosis, Increased circulating thyroglobulin le... |
ORPHA:356961 |
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentration, Arrh... |
OMIM:616516 |
Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-releasing hormo... |
OMIM:619326 |
Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Abnormal hip bone morphology, Reduced bone mineral density, Foot acroosteolysis, Abnormality of t... |
ORPHA:970 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Elevated circulating growth hormone concentration, Insulin resistance, Insulin-resistant diabetes... |
ORPHA:90301 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Secondary hyperparathyroidism, Metaphyseal irregularity, Tibial bowing, Subperiosteal bone resorp... |
OMIM:264700 |
Léri-Weill Dyschondrosteosis |
|
Abnormality of femur morphology, Hypoplasia of the radius, Cone-shaped epiphysis, Abnormality of ... |
ORPHA:240 |
Osebold-Remondini Syndrome |
|
Carpal synostosis, Short toe, Dysplastic distal radial epiphyses, Hypoplasia of the radius, Short... |
OMIM:112910 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Hyperinsulinemia, Osteopenia, Down-sloping shoulders, Acroos... |
OMIM:248370 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Failure to thrive, Hyperlipidemia, Hepatomegaly, Increased hepatic glycogen content, Osteopenia, ... |
ORPHA:369 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Short toe, Hyperinsulinemia, Type II diabetes mellitus, Hypergonadotropic hypogonadism, Brachydac... |
ORPHA:3085 |
Bangstad Syndrome |
|
Hyperinsulinemia, Increased circulating cortisol level, Short stature, Abnormality of the parathy... |
ORPHA:1227 |
Lipodystrophy, Familial Partial, Type 1 |
|
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Hype... |
OMIM:608600 |
Acromesomelic Dysplasia, Grebe Type |
|
Joint stiffness, Short toe, Short tibia, Aplasia of the middle phalanges of the toes, Brachydacty... |
ORPHA:2098 |
Atelosteogenesis Type Ii |
|
Broad phalanx, Micromelia, Upper limb undergrowth, Rhizomelic arm shortening, Genu valgum, Rhizom... |
ORPHA:56304 |
Potocki-Shaffer Syndrome |
|
Micrognathia, Hypothyroidism, Delayed puberty, Hypertension, Anemia, Decreased skull ossification |
ORPHA:52022 |
Spondyloepiphyseal Dysplasia Congenita |
|
Laryngotracheomalacia, Dysplasia of the femoral head, Reduced bone mineral density, Abnormally os... |
ORPHA:94068 |
Leri-Weill Dyschondrosteosis |
|
Short toe, Tibial bowing, Abnormal femoral neck morphology, Radial bowing, Coxa valga, Hypoplasia... |
OMIM:127300 |
Fanconi-Bickel Syndrome |
|
Postprandial hyperglycemia, Failure to thrive, Hypophosphatemia, Hepatomegaly, Increased hepatic ... |
ORPHA:2088 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Insulin resistance, Decreased serum leptin, Insulin-resistant diabetes mellitus, Po... |
ORPHA:79085 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Abdominal obesity, Increased circulating cortisol level, Macronodular adrenal hyperplasia, Osteop... |
OMIM:615954 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Aplasia/Hypoplasia of the ulna, Hypoplasia of the radius, Femoral bowing, Congenital hip dislocat... |
OMIM:228930 |
Insulinoma |
|
Abnormality of the pancreatic islet cells, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Neopl... |
ORPHA:97279 |
Hyperinsulinism Due To Hnf4A Deficiency |
|
Hypophosphatemic rickets, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Abnormal circulating f... |
ORPHA:263455 |
Buschke-Ollendorff Syndrome |
|
Joint stiffness, Recurrent fractures, Abnormal metaphysis morphology, Craniosynostosis, Flexion c... |
ORPHA:1306 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Increased circulating cortisol level, Osteopenia, Osteoporosis, Adrenal hyperplasia, Primary hype... |
OMIM:615830 |
Hypertension And Brachydactyly Syndrome |
|
Cone-shaped epiphysis, Brachydactyly, Short phalanx of finger, Hypertension, Short metacarpal |
OMIM:112410 |
Lethal Faciocardiomelic Dysplasia |
|
Microretrognathia, Hypoplasia of the radius, Radial club hand, Short tibia, Short 5th finger, Hyp... |
ORPHA:1972 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Upper limb metaphyseal widening, Humerus varus, Thin bony cortex, Hypoplasia of the u... |
ORPHA:85188 |
Paget Disease Of Bone 2, Early-Onset |
|
Sclerosis of skull base, Short femur, Fractures of the long bones, Femoral bowing, Osteolysis, In... |
OMIM:602080 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Diabetes mellitus, Insulin resistance, Hepatic st... |
OMIM:612526 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hypocalcemia, Hepatomegaly, Jaundice, Hypoproteinemia, Small for gestational age, Hyperammonemia,... |
ORPHA:26793 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hypertriglyceridemia, Hepatomegaly, Failure to thrive in infancy, Splenomegaly |
OMIM:619175 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Hypertriglyceridemia, Clinodactyly of the 5th finger, Clinodactyly of the 5th toe |
OMIM:618010 |
Pelviscapular Dysplasia |
|
Mesomelic leg shortening, Short femur, Hypoplastic ilia, Congenital hip dislocation, Brachydactyl... |
ORPHA:93333 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypoglycemia, Hypertriglyceridemia |
ORPHA:366 |
Pyknoachondrogenesis |
|
Increased bone mineral density |
OMIM:265880 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hyperinsulinemia, Hepatomegaly, Cirrhosis, Hypertriglyceridemia, Insulin resistance, Hypertension... |
ORPHA:363400 |
Seckel Syndrome 10 |
|
Glucose intolerance, Microretrognathia, Metaphyseal widening, Cone-shaped epiphysis, Elevated hem... |
OMIM:617253 |
Melorheostosis, Isolated |
|
Increased bone mineral density, Hyperostosis |
OMIM:155950 |
Vitamin D-Dependent Rickets, Type 2A |
|
Secondary hyperparathyroidism, Metaphyseal irregularity, Tibial bowing, Subperiosteal bone resorp... |
OMIM:277440 |
Acquired Partial Lipodystrophy |
|
Insulin resistance, Hearing impairment, Lipoatrophy, Lymphocytosis |
ORPHA:79087 |
Estrogen Resistance Syndrome |
|
Glucose intolerance, Delayed epiphyseal ossification, Hyperinsulinemia, Osteopenia, Absence of pu... |
ORPHA:785 |
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Failure to thrive, Flat capital femoral epiphysis, Flexion contracture, Osteopenia, Broad femoral... |
ORPHA:157965 |
Isolated Osteopoikilosis |
|
Joint stiffness, Abnormality of femur morphology, Abnormal bone ossification, Sclerosis of foot b... |
ORPHA:166119 |
Alstrom Syndrome |
|
Hyperinsulinemia, Hepatomegaly, Decreased response to growth hormone stimulation test, Chronic ac... |
OMIM:203800 |
Short Rib-Polydactyly Syndrome |
|
Cone-shaped epiphysis, Micromelia, Hepatic cysts, Bowing of the long bones, Short long bone, Acet... |
ORPHA:1505 |
Osteogenesis Imperfecta, Type Xxii |
|
Recurrent fractures, Abnormal circulating calcium concentration, Reduced bone mineral density, Sl... |
OMIM:619795 |
Ivic Syndrome |
|
Carpal synostosis, Short clavicles, Absent thumb, Limited interphalangeal movement, Hypoplasia of... |
OMIM:147750 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Failure to thrive, Decreased circulating IgA level, Hyperinsulinemia, Hepatomegaly, Flexion contr... |
OMIM:613327 |
Retinitis Pigmentosa |
|
Type II diabetes mellitus, Hyperinsulinemia, Hypogonadism, Obesity, Abnormal testis morphology |
ORPHA:791 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Amelia, Foot oligodactyly, Omphalocele, Short femur |
OMIM:601357 |
Insulin-Resistance Syndrome Type B |
|
Hyperinsulinemia, Glycosuria, Abnormality of circulating leptin level, Polycystic ovaries, Increa... |
ORPHA:2298 |
Acromesomelic Dysplasia 2C |
|
Distal femoral bowing, Radial bowing, Hypoplasia of the radius, Short tibia, Shortening of all pr... |
OMIM:201250 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossification, Bowing of the legs, Fai... |
OMIM:241530 |
Spastic Paraplegia-Nephritis-Deafness Syndrome |
|
Hypertension, Clinodactyly of the 5th finger |
ORPHA:2820 |
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Slender build, Failure to thrive, Slender long bones with narrow diaphyses, Small for gestational... |
OMIM:608154 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Paradoxical increased cortisol secretion on dexamethasone suppression test, Pigmented micronodula... |
OMIM:610475 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Micrognathia, Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Primary gonadal insuffic... |
ORPHA:436182 |
Dysplastic Cortical Hyperostosis |
|
Hepatomegaly, Increased bone mineral density, Splenomegaly, Abnormality of limb bone morphology, ... |
ORPHA:2204 |
Epiphyseal Dysplasia, Baumann Type |
|
Epiphyseal dysplasia, Metaphyseal irregularity, Clinodactyly of the 5th finger, Carpal bone aplas... |
OMIM:610797 |
Pparg-Related Familial Partial Lipodystrophy |
|
Pancreatitis, Hepatomegaly, Splenomegaly, Cirrhosis, Maternal diabetes, Calf muscle pseudohypertr... |
ORPHA:79083 |
Langer Mesomelic Dysplasia |
|
Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula, Micromelia, Short femoral neck, Me... |
ORPHA:2632 |
Kyphomelic Dysplasia |
|
Tibial bowing, Radial bowing, Talipes equinovarus, Short metacarpal, Short femur, Femoral bowing,... |
OMIM:211350 |
Atelosteogenesis, Type I |
|
Aplasia/Hypoplasia of the ulna, 11 pairs of ribs, Rhizomelia, Multinucleated giant chondrocytes i... |
OMIM:108720 |
Osteopetrosis, Autosomal Recessive 6 |
|
Osteopetrosis, Dense metaphyseal bands, Cortical sclerosis of the iliac wing, Erlenmeyer flask de... |
OMIM:611497 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Metaphyseal irregularity, Hypophosphatemic rickets, Tibial bowing, Bowing of the legs, Trapezoida... |
OMIM:307800 |
Gnathodiaphyseal Dysplasia |
|
Recurrent fractures, Mandibular osteomyelitis, Osteopenia, Bowing of the long bones, Thickened co... |
ORPHA:53697 |
Thanatophoric Dysplasia Type 1 |
|
Joint stiffness, Wide anterior fontanel, Short femur, Femoral bowing, Hypoplastic ilia, Brachydac... |
ORPHA:1860 |
Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Hepatomegaly, Increased LDL cholesterol concentration, Splenomegaly, Decr... |
OMIM:607616 |
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition |
|
Metaphyseal irregularity, Slender finger, Flared metaphysis, Broad femoral neck, Flattened epiphy... |
OMIM:601668 |
Brachydactyly-Arterial Hypertension Syndrome |
|
Hypertension, Brachydactyly, Short phalanx of finger, Short metacarpal |
ORPHA:1276 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Granulocytopenia, Hemophagocytosis, Hepatosplenomegaly, Reduced natural killer cell activity, Hyp... |
OMIM:608898 |
Stuve-Wiedemann Syndrome 1 |
|
Femoral bowing, Ulnar deviation of finger, Contracture of the proximal interphalangeal joint of t... |
OMIM:601559 |
Preeclampsia |
|
Abnormality of the hepatic vasculature, Small for gestational age, Elevated systolic blood pressu... |
ORPHA:275555 |
Aromatase Deficiency |
|
Delayed epiphyseal ossification, Hyperlipidemia, Type II diabetes mellitus, Eunuchoid habitus, Hy... |
ORPHA:91 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hypertension, Rhizomelia, Thrombocytopenia |
OMIM:166990 |
Hypertriglyceridemia 2 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:619324 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Short distal phalanx of finger, Hyperlipidemia, Insulin resistance, Aplasia/Hypoplasia of the cla... |
ORPHA:90154 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Supraventricular arrhythmia, Pancreatitis, Hepatomegaly, Decreased adiponectin level, Splenomegal... |
ORPHA:280365 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Paradoxical increased cortisol secretion on dexamethasone suppression test, Increased serum testo... |
OMIM:610489 |
Werner Syndrome |
|
Slender build, Telangiectasia of the skin, Joint stiffness, Type II diabetes mellitus, Thyroid ca... |
ORPHA:902 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Failure to thrive, Talipes equinovarus, Short femur, Hypoplasia of the radius, Short tibia, Small... |
OMIM:607143 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Hypergonadotropic hypogonadism, Glucose intolerance, Male hypogonadism, Hyperglycemia |
OMIM:307500 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Hyperinsulinemia, Splenomegaly |
ORPHA:66518 |
Maternally-Inherited Diabetes And Deafness |
|
Type II diabetes mellitus, Abnormal circulating lipid concentration, Arrhythmia, Hypertension, Hy... |
ORPHA:225 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Secondary hyperparathyroidism, Delayed epiphyseal ossification, Tibial bowing, Subperiosteal bone... |
ORPHA:289157 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Coxa vara, Tibial bowing, Metaphyseal cupping, Radial bowing, Flared iliac wing, Femoral bowing, ... |
OMIM:602111 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Increased circulating cortisol level, Osteopenia, Macronodular adrenal hyperplasia, Osteoporosis,... |
OMIM:219080 |
Abdominal Obesity-Metabolic Syndrome 1 |
|
Abdominal obesity, Hypertension |
OMIM:605552 |
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2 |
|
Abdominal obesity, Hypertension |
OMIM:605572 |
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia |
|
Abdominal obesity, Paradoxical increased cortisol secretion on dexamethasone suppression test, Gl... |
ORPHA:189427 |
Metatropic Dysplasia |
|
Joint stiffness, Abnormal enchondral ossification, Halberd-shaped pelvis, Clinodactyly of the 5th... |
ORPHA:2635 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Failure to thrive, Hepatomegaly, Splenomegaly, Cirrhosis, Elevated circulating creatine kinase co... |
ORPHA:264580 |
Congenital Disorder Of Glycosylation, Type Im |
|
Failure to thrive, Hypoketotic hypoglycemia, Dilated cardiomyopathy, Increased circulating free f... |
OMIM:610768 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossification, Bowing of the legs, Hyp... |
OMIM:300554 |
Lipodystrophy, Familial Partial, Type 5 |
|
Hepatomegaly, Diabetic ketoacidosis, Increased C-peptide level, Decreased serum leptin, Hypertrig... |
OMIM:615238 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Arachnodactyly, Hepatosplenomegaly, Hypothyroidism, Hypertriglyceridemia, Microcytic anemia, Hypo... |
OMIM:619013 |
Donohue Syndrome |
|
Postprandial hyperglycemia, Precocious puberty, Hyperinsulinemia, Severe failure to thrive, Pancr... |
OMIM:246200 |
Fanconi Renotubular Syndrome 5 |
|
Hypophosphatemic rickets, Hypophosphatemia, Glycosuria, Genu valgum, Hypertension |
OMIM:618913 |
Hypertriglyceridemia 1 |
|
Hypertriglyceridemia, Glucose intolerance, Increased VLDL cholesterol concentration, Hypopituitarism |
OMIM:145750 |
Hyperlipoproteinemia, Type Iv |
|
Hypertriglyceridemia, Glucose intolerance, Increased VLDL cholesterol concentration, Hypopituitarism |
OMIM:144600 |
H Syndrome |
|
Histiocytosis, Recurrent fractures, Hepatosplenomegaly, Camptodactyly, Hypertriglyceridemia, Pes ... |
ORPHA:168569 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Recurrent fractures, Bone cyst, Abnormal adipose tissue morphology, Abnormal hip bone morphology,... |
ORPHA:93160 |
Atypical Werner Syndrome |
|
Telangiectasia of the skin, Hyperinsulinemia, Finger clinodactyly, Glycosuria, Osteolytic defects... |
ORPHA:79474 |
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Toe clinodactyly, Upper limb undergrowth, Pathologic fracture, Short foot, Abnormal cortical bone... |
ORPHA:166277 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Short distal phalanx of finger, Hyperlipidemia, Flexion contracture, Insulin resistance, Aplasia/... |
ORPHA:90153 |
Atelosteogenesis Type I |
|
Talipes equinovarus, Abnormal ossification involving the femoral head and neck, Short femur, Micr... |
ORPHA:1190 |
Dent Disease 1 |
|
Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossification, Bowing of the legs, Spa... |
OMIM:300009 |
Gnathodiaphyseal Dysplasia |
|
Osteomyelitis, Diaphyseal cortical sclerosis, Osteopenia, Increased susceptibility to fractures, ... |
OMIM:166260 |
Primary Lipodystrophy |
|
Angina pectoris, Hyperlipidemia, Type II diabetes mellitus, Pancreatitis, Splenomegaly, Cirrhosis... |
ORPHA:90970 |
Galactokinase Deficiency |
|
Failure to thrive, Hyperinsulinemia, Hepatomegaly, Small for gestational age, Hypergonadotropic h... |
ORPHA:79237 |
Preeclampsia/Eclampsia 1 |
|
Hypertension, Thrombocytopenia |
OMIM:189800 |
Multiple Epiphyseal Dysplasia Type 4 |
|
Short metacarpal, Arthralgia of the hip, Upper limb undergrowth, Abnormal hand morphology, Genu v... |
ORPHA:93307 |
Congenital Pulmonary Veins Atresia Or Stenosis |
|
Hypertension |
ORPHA:3188 |
Marbach-Rustad Progeroid Syndrome |
|
Short clavicles, Reduced bone mineral density, Micrognathia, Pulmonary insufficiency, Right bundl... |
OMIM:619322 |
Methylcobalamin Deficiency Type Cble |
|
Increased mean corpuscular volume, Failure to thrive, Neutropenia, Hypomethioninemia, Syndactyly,... |
ORPHA:2169 |
Xp21 Deletion Syndrome |
|
Adrenal insufficiency, Reduced bone mineral density, Calf muscle hypertrophy, Hypogonadotropic hy... |
ORPHA:261476 |
Methanol Poisoning |
|
Permanent atrial fibrillation, Hyperlipidemia, Type II diabetes mellitus, Cerebral hemorrhage, In... |
ORPHA:31825 |
Diabetes Mellitus, Permanent Neonatal, 1 |
|
Small for gestational age, Type I diabetes mellitus, Diabetes mellitus, Intrauterine growth retar... |
OMIM:606176 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Type II diabetes mellitus, Increased LDL cholesterol concentration, Elevated hemoglobin A1c, Decr... |
OMIM:618620 |
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 2 |
|
Hypertension, Transient ischemic attack, Lacunar stroke |
OMIM:616779 |
Primary Pigmented Nodular Adrenocortical Disease |
|
Abdominal obesity, Paradoxical increased cortisol secretion on dexamethasone suppression test, Gl... |
ORPHA:189439 |
Silver-Russell Syndrome Due To 11P15 Microduplication |
|
Severe intrauterine growth retardation, Failure to thrive, Short stature, Small for gestational a... |
ORPHA:231144 |
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia |
|
Osteopenia, Osteoporosis, Delayed puberty |
OMIM:615270 |
Perlman Syndrome |
|
Hyperinsulinemia, Cryptorchidism, Abnormal pancreas morphology, Hepatomegaly |
ORPHA:2849 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Increased circulating ferritin concentration, Hepatomegaly, Hemophagocytosis, Splenomegaly, Hyper... |
OMIM:603552 |
Ck Syndrome |
|
Slender build, Micrognathia, Abnormal digit morphology, Joint hypermobility, Abnormal cortical bo... |
OMIM:300831 |
Ollier Disease |
|
Joint stiffness, Precocious puberty, Anemia, Micromelia, Abnormal cartilage morphology, Osteolysi... |
ORPHA:296 |
Focal Segmental Glomerulosclerosis 1 |
|
Hypertension, Anemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:603278 |
Hypocalcemia, Autosomal Dominant 2 |
|
Postnatal growth retardation |
OMIM:615361 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Broad metacarpals, Osteolysis involving bones of the lower limbs, Osteopenia, Premature thelarche... |
ORPHA:371428 |
Osteomesopyknosis |
|
Abnormal cortical bone morphology, Increased bone mineral density |
ORPHA:2777 |
Intracranial Hypertension, Idiopathic |
|
Hypertension |
OMIM:243200 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Bowing of the legs, Metaphyseal spurs, Dysplastic iliac wing, Narrow greater sciatic notch, Femor... |
OMIM:608728 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Pulmonary venous hypertension, Pancreatitis, Hepatomegaly, Osteopenia, Gout, Hepatocellular adeno... |
ORPHA:79259 |
Short Syndrome |
|
Sensorineural hearing impairment, Inguinal hernia, Joint hyperflexibility, Brachydactyly, Lipodys... |
ORPHA:3163 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Increased circulating ferritin concentration, Hepatomegaly, Hemophagocytosis, Splenomegaly, Aplas... |
OMIM:300635 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Abnormal natural ki... |
OMIM:613101 |
Cranio-Osteoarthropathy |
|
Joint stiffness, Osteoarthritis, Deviation of finger, Abnormality of tibia morphology, Arthritis,... |
ORPHA:1525 |
Lysosomal Acid Lipase Deficiency |
|
Hepatomegaly, Steatorrhea, Hepatic bridging fibrosis, Adrenal insufficiency, Splenomegaly, Cirrho... |
OMIM:278000 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Supraventricular arrhythmia, Joint stiffness, Decreased cervical spine flexion due to contracture... |
ORPHA:98855 |
Hyperaldosteronism, Familial, Type Iv |
|
Hypertension |
OMIM:617027 |
Fibrous Dysplasia Of Bone |
|
Abnormality of femur morphology, Abnormality of the humerus, Thin bony cortex, Abnormal bone stru... |
ORPHA:249 |
Grant Syndrome |
|
Abnormality of the glenoid fossa, Micrognathia, Joint hyperflexibility, Bowing of the long bones,... |
ORPHA:2097 |
Langer Mesomelic Dysplasia |
|
Radial bowing, Hypoplasia of the radius, Broad ulna, Short tibia, Micrognathia, Rudimentary fibul... |
OMIM:249700 |
Familial Expansile Osteolysis |
|
Pathologic fracture, Osteolysis, Bowing of the long bones, Thin bony cortex |
OMIM:174810 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:144300 |
Spondyloepiphyseal Dysplasia Tarda |
|
Abnormally ossified vertebrae, Arthralgia of the hip, Abnormal cartilage morphology, Knee osteoar... |
ORPHA:93284 |
Schimke Immunoosseous Dysplasia |
|
Transient ischemic attack, Talipes equinovarus, Abnormal T cell morphology, Lymphopenia, Small fo... |
OMIM:242900 |
Orofaciodigital Syndrome Viii |
|
Short tibia, Syndactyly, Polydactyly |
OMIM:300484 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Myocardial infarction, Hypophosphatemic rickets, Hypertension, Congestive heart failure |
OMIM:614473 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hypertriglyceridemia, Hepatomegaly |
OMIM:615924 |
Rothmund-Thomson Syndrome Type 1 |
|
Metaphyseal sclerosis, Osteopenia, Aplastic anemia, Hypogonadism, Calcinosis, Abnormality of the ... |
ORPHA:221008 |
Lipase Deficiency, Combined |
|
Hypertriglyceridemia, Type II diabetes mellitus, Pancreatitis |
OMIM:246650 |
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
|
Hypoplasia of the radius, Short tibia, Pseudoarthrosis |
OMIM:156230 |
Schimke Immuno-Osseous Dysplasia |
|
Pancreatitis, Impaired T cell function, Abnormal femoral head morphology, Abnormal proportion of ... |
ORPHA:1830 |
Dermatosparaxis Ehlers-Danlos Syndrome |
|
Joint stiffness, Coxa vara, Scarring, Coxa valga, Hiatus hernia, Inguinal hernia, Osteopenia, Mic... |
ORPHA:1901 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatomegaly, Splenomegaly, Hypertriglyceridemia, Hepatic fibrosis, Hepatic steatosis |
OMIM:614480 |
Fish-Eye Disease |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased VLDL cholesterol concent... |
OMIM:136120 |
D-Glyceric Aciduria |
|
Nonketotic hyperglycinemia, Hyperglycinemia, Increased circulating free fatty acid level |
ORPHA:941 |
Peroxisome Biogenesis Disorder 3B |
|
Failure to thrive, Hepatomegaly, Steatorrhea, Osteoporosis, Hypocholesterolemia |
OMIM:266510 |
Emery-Dreifuss Muscular Dystrophy |
|
Supraventricular arrhythmia, Joint stiffness, Decreased cervical spine flexion due to contracture... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Supraventricular arrhythmia, Joint stiffness, Decreased cervical spine flexion due to contracture... |
ORPHA:98853 |
Lipe-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Insulin resistance, Decreased serum leptin, Insulin-resistant diabetes mellitus, Po... |
ORPHA:435660 |
Microcephaly-Micromelia Syndrome |
|
Forearm undergrowth, Talipes equinovarus, Craniosynostosis, Short tibia, Micrognathia, Micromelia... |
OMIM:251230 |
Orofaciodigital Syndrome Type 10 |
|
Hypoplasia of proximal radius, Short toe, Mesomelic leg shortening, Preaxial polydactyly, Short t... |
ORPHA:2756 |
Grange Syndrome |
|
Syndactyly, Aortic regurgitation, Increased susceptibility to fractures, Hypertension, Short palm |
ORPHA:79094 |
Mpi-Cdg |
|
Failure to thrive, Hyperinsulinemic hypoglycemia, Hepatomegaly, Hypothyroidism, Hepatic fibrosis,... |
ORPHA:79319 |
Glycogen Storage Disease Ia |
|
Hyperlipidemia, Pancreatitis, Hepatomegaly, Hepatocellular carcinoma, Osteoporosis, Gout, Hypogly... |
OMIM:232200 |
X-Linked Hypohidrotic Ectodermal Dysplasia |
|
Short distal phalanx of finger, Anterior hypopituitarism, Hypohidrosis, Type I diabetes mellitus,... |
ORPHA:181 |
Trimethylaminuria |
|
Splenomegaly, Tachycardia, Neutropenia, Hypertension, Anemia |
OMIM:602079 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Joint stiffness, Tibial bowing, Metaphyseal irregularity, Metaphyseal cupping, Coxa vara, Narrow ... |
OMIM:608940 |
Osteogenesis Imperfecta, Type Xiv |
|
Recurrent fractures, Osteopenia, Increased susceptibility to fractures, Femoral bowing |
OMIM:615066 |
Silver-Russell Syndrome |
|
Precocious puberty, Postnatal growth retardation, Short stature, Cachexia, Insulin resistance, Re... |
ORPHA:813 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Pancreatitis, Hepatomegaly, Splenomegaly, Hypertriglyceridemia, Diabetes mellitus, Insulin resist... |
ORPHA:2348 |
Pseudohypoparathyroidism Type 1A |
|
Hypergonadotropic hypogonadism, Elevated circulating parathyroid hormone level, Short 3rd metacar... |
ORPHA:79443 |
Weismann-Netter Syndrome |
|
Calvarial hyperostosis, Fibular bowing, Lateral femoral bowing, Anterior tibial bowing, Squared i... |
OMIM:112350 |
Overlap Myositis |
|
Distal lower limb muscle weakness, Subluxation of the small joints of the hand, Raynaud phenomeno... |
ORPHA:206572 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Dislocated radial head, Epiphyseal dysplasia, Fragmented epiphyses, Delayed epiphyseal ossificati... |
ORPHA:166016 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Supraventricular arrhythmia, Joint stiffness, Decreased cervical spine flexion due to contracture... |
ORPHA:98863 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Overlapping toe, Wide anterior fontanel, Talipes equinovarus, Short tibia, Micrognathia, 11 pairs... |
OMIM:201170 |
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
Decreased body weight, Short stature, Small for gestational age, Hypoglycemia, Neonatal hypoglyce... |
ORPHA:231140 |
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Joint stiffness, Osteoarthritis, Pulmonary embolism, Arrhythmia, Hypertension, Hypertrophic cardi... |
ORPHA:1345 |
X-Linked Hypophosphatemia |
|
Craniosynostosis, Upper limb metaphyseal widening, Genu valgum, Abnormal epiphysis morphology, En... |
ORPHA:89936 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Splenomegaly, Ketotic hypoglycemia, Recurrent hypoglycemia, Cirrhosis, Elevated cir... |
ORPHA:79240 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Rickets of the lower limbs, Coxa vara, Tibial bowing, Distal femoral bowing, Pseudo-fractures, In... |
ORPHA:289176 |
Smith-Magenis Syndrome |
|
Abnormality of the thyroid gland, Brachydactyly, Hypertriglyceridemia, Pes planus, Hypercholester... |
OMIM:182290 |
Chromosome 17Q23.1-Q23.2 Deletion Syndrome |
|
Talipes equinovarus, Slender finger, Small for gestational age, Long fingers, Hypertension, Pulmo... |
OMIM:613355 |
Dysbetalipoproteinemia |
|
Angina pectoris, Hepatomegaly, Increased LDL cholesterol concentration, Decreased HDL cholesterol... |
ORPHA:412 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Hypertension, Anemia, Type I diabetes mellitus, Limitation of joint mobility |
ORPHA:1192 |
Bangstad Syndrome |
|
Goiter, Small for gestational age, Insulin-resistant diabetes mellitus, Primary gonadal insuffici... |
OMIM:210740 |
Ganglioneuroma |
|
Neoplasm of the adrenal gland, Abnormality of the adrenal glands, Abnormal bone structure, Gastro... |
ORPHA:251992 |
Gaisböck Syndrome |
|
Angina pectoris, Increased hematocrit, Hypovolemia, Elevated plasma cell count, Hyperproteinemia,... |
ORPHA:90041 |
Tibial Hemimelia |
|
Radial club hand, Aplasia of the 2nd metacarpal, Talipes equinovarus, Absent hallux, Polydactyly,... |
ORPHA:93322 |
Fanconi Renotubular Syndrome 3 |
|
Bowing of the legs, Glycosuria, Rickets |
OMIM:615605 |
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
|
Irregular tarsal ossification, Cone-shaped epiphyses of the phalanges of the hand, Ivory epiphyse... |
OMIM:226980 |
Paragangliomas 6 |
|
Hypertension, Elevated circulating catecholamine level, Paraganglioma |
OMIM:618464 |
Glycogen Storage Disease Ib |
|
Hyperlipidemia, Neutropenia, Pancreatitis, Hepatomegaly, Splenomegaly, Pancreatic fibrosis, Hepat... |
OMIM:232220 |
Takayasu Arteritis |
|
Hypertrophic cardiomyopathy, Anemia, Vasculitis, Cerebral ischemia, Arthritis, Myocardial infarct... |
ORPHA:3287 |
Ravine Syndrome |
|
Failure to thrive, Decreased body weight, Abnormal auditory evoked potentials |
ORPHA:99852 |
Whipple Disease |
|
Hepatomegaly, Splenomegaly, Anemia, Cachexia, Myocarditis, Hypotension, Arthritis, Myocardial inf... |
ORPHA:3452 |
Rothmund-Thomson Syndrome |
|
Telangiectasia of the skin, Small for gestational age, Reduced bone mineral density, Broad ulna, ... |
ORPHA:2909 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Hypogonadotropic hypogonadism, Camptodactyly of finger, Micrognathia, Osteoporosis, Hypoglycemia,... |
ORPHA:48431 |
Pancreatic Agenesis 1 |
|
Failure to thrive, Exocrine pancreatic insufficiency, Pancreatic hypoplasia, Pancreatic aplasia, ... |
OMIM:260370 |
Gorham-Stout Disease |
|
Abnormality of femur morphology, Abnormality of finger, Abnormal bone ossification, Osteomyelitis... |
ORPHA:73 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Decreased fibular diameter, Glucose intolerance, Joint stiffness, Hepatomegaly, Tricuspid regurgi... |
OMIM:619127 |
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome |
|
Bowing of the legs, Broad phalanx, Metaphyseal dysplasia, Metaphyseal widening, Flared metaphysis... |
ORPHA:2502 |
Prader-Willi Syndrome |
|
Hyperinsulinemia, Osteopenia, Genu valgum, Failure to thrive in infancy, Abdominal obesity, Adren... |
OMIM:176270 |
Caffey Disease |
|
Increased circulating antibody level, Cortical thickening of long bone diaphyses, Periosteal thic... |
ORPHA:1310 |
Acromesomelic Dysplasia 3 |
|
Carpal synostosis, Short toe, Talipes equinovarus, Elevated circulating follicle stimulating horm... |
OMIM:609441 |
Adrenocortical Carcinoma |
|
Paradoxical increased cortisol secretion on dexamethasone suppression test, Adrenocorticotropic h... |
ORPHA:1501 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Failure to thrive, Osteoporosis, Type I diabetes mellitus, Hearing impairment, Rickets |
OMIM:560000 |
Ophthalmomandibulomelic Dysplasia |
|
Lateral humeral condyle aplasia, Camptodactyly of finger, Synostosis of carpal bones, Symphalangi... |
ORPHA:2741 |
Multiple Endocrine Neoplasia Type 4 |
|
Pituitary growth hormone cell adenoma, Thymoma, Elevated circulating parathyroid hormone level, N... |
ORPHA:276152 |
X-Linked Acrogigantism |
|
Abnormality of the pituitary gland, Decreased thyroid-stimulating hormone level, Adrenocorticotro... |
ORPHA:300373 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Talipes equinovarus, Abnormal auditory evoked potentia... |
OMIM:601382 |
Glycogen Storage Disease Ixa1 |
|
Hepatomegaly, Splenomegaly, Hypoglycemia, Hypertriglyceridemia, Hyperuricemia, Hypercholesterolemia |
OMIM:306000 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Sensorineural hearing impairment, Hypophosphatemic rickets, Increased bone mineral density, Crani... |
OMIM:241520 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Hypertension, Elevated circulating creatinine concentration, Flexion contracture, Small for gesta... |
OMIM:616733 |
Immunodeficiency 97 With Autoinflammation |
|
Increased circulating ferritin concentration, Hemophagocytosis, Decreased proportion of CD4+CD25+... |
OMIM:619802 |
Growth Hormone Deficiency, Isolated Partial |
|
Postnatal growth retardation, Short stature |
OMIM:615925 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Splenomegaly, Adrenal calcification, Cirrhosis, Hypertriglyceridemia, Hypercholeste... |
ORPHA:75234 |
Smith-Magenis Syndrome |
|
Joint stiffness, Clinodactyly of the 5th finger, Precocious puberty, Micrognathia, Brachydactyly,... |
ORPHA:819 |
Prader-Willi Syndrome |
|
Central adrenal insufficiency, Osteopenia, Decreased inhibin B level, Hypogonadism, Abdominal obe... |
ORPHA:739 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypoparathyroidism, Decreased circulating IgA level, Precocious puberty, Craniosynostosis, Restri... |
ORPHA:369837 |
Cholestasis-Lymphedema Syndrome |
|
Hyperlipidemia, Hepatomegaly, Splenomegaly, Reduced bone mineral density, Cirrhosis, Biliary trac... |
ORPHA:1414 |
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Wolff-Parkinson-White syndrome, Abnormal left ventricular function, Arrhythmia, Diabetes mellitus... |
OMIM:540000 |
Pediatric-Onset Graves Disease |
|
Failure to thrive, Neutropenia in presence of anti-neutropil antibodies, Graves disease, Hepatome... |
ORPHA:525731 |
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy |
|
Left anterior fascicular block, Abnormal left ventricular function, Limitation of movement at ank... |
ORPHA:437572 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Hypertension, Elevated circulating creatinine concentration, Synovitis, Arthritis |
ORPHA:567544 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Abnormality of toe, Knee dislocation, Equinus calcaneus, Joint hypermobility, Arachnodactyly, Mic... |
ORPHA:536532 |
Polyendocrine-Polyneuropathy Syndrome |
|
Type II diabetes mellitus, Decreased serum testosterone concentration, Hypoinsulinemia, Hypogonad... |
ORPHA:453533 |
Familial Osteodysplasia, Anderson Type |
|
Recurrent fractures, Clinodactyly of the 5th finger, Aplastic clavicle, Aplasia/hypoplasia of the... |
ORPHA:2769 |
Werner Syndrome |
|
Reduced bone mineral density, Elevated hemoglobin A1c, Osteoporosis, Hypertriglyceridemia, Diabet... |
OMIM:277700 |
Rabson-Mendenhall Syndrome |
|
Postprandial hyperglycemia, Increased serum testosterone level, Intrauterine growth retardation, ... |
ORPHA:769 |
Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Femoral bowing, Thin bony cortex, Broad thumb, Rhizomelia, Pes planus, Short 4th metacarpal, Shor... |
OMIM:619638 |
Aapoaiv Amyloidosis |
|
Sinus bradycardia, Left bundle branch block, Hyperlipidemia, Left ventricular outflow tract obstr... |
ORPHA:439232 |
Bruck Syndrome 2 |
|
Talipes equinovarus, Flexion contracture, Inguinal hernia, Osteopenia, Femoral bowing, Elbow flex... |
OMIM:609220 |
Renal Failure, Progressive, With Hypertension |
|
Hypertension, Elevated circulating creatinine concentration |
OMIM:161900 |
Pachydermoperiostosis |
|
Osteomyelitis, Elevated circulating growth hormone concentration, Hepatomegaly, Splenomegaly, Sma... |
ORPHA:2796 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Cerebral hemorrhage, ST segment depression, Leukocytosis, Cerebral ischemia, Syncope, Prolonged Q... |
ORPHA:90065 |
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity |
|
Postnatal growth retardation, Intrauterine growth retardation |
OMIM:600546 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Failure to thrive, Giant cell hepatitis, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Steatorr... |
OMIM:607765 |
Hypophosphatemic Bone Disease |
|
Bowing of the legs, Osteomalacia, Rickets |
OMIM:146350 |
Acrocraniofacial Dysostosis |
|
Sensorineural hearing impairment, Conductive hearing impairment, Craniosynostosis, Short 1st meta... |
OMIM:201050 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Increased circulating ferritin concentration, Neutropenia, Elevated circulating C-reactive protei... |
ORPHA:158057 |
Pituitary Adenoma 4, Acth-Secreting |
|
Abdominal obesity, Glucose intolerance, Pituitary adenoma, Hypokalemia, Increased circulating ACT... |
OMIM:219090 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Hemolytic anemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration, Normochromic anemia |
OMIM:245900 |
Cidec-Related Familial Partial Lipodystrophy |
|
Hyperlipidemia, Pancreatitis, Hepatomegaly, Calf muscle hypertrophy, Decreased serum leptin, Hype... |
ORPHA:435651 |
Stiff Skin Syndrome |
|
Hypertension, Type II diabetes mellitus, Limitation of joint mobility, Abnormal circulating lipid... |
ORPHA:2833 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Recurrent fractures, Abnormal hip bone morphology, Micrognathia, Slender long bone, Abnormal cort... |
ORPHA:1486 |
Caffey Disease |
|
Bowing of the legs, Tibial bowing, Periosteal thickening of long tubular bones, Joint hypermobili... |
OMIM:114000 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Decreased circulating parathyroid hormone level, Bowing of the legs, Hypophosphatemic rickets, Re... |
ORPHA:157215 |
Squalene Synthase Deficiency |
|
2-3 toe syndactyly, Micrognathia, Slender long bone, Increased circulating farnesol concentration... |
OMIM:618156 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Femoral bowing, Micromelia, 11 pairs of ribs, Long foot, Absent knee epiphyses, Flexion contractu... |
OMIM:210710 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Hyperinsulinemia, Hepatomegaly, Splenomegaly, Cystic angiomatosis of bone, Cirrhosis, Decreased s... |
OMIM:608594 |
Microtriplication 11Q24.1 |
|
Clinodactyly of the 5th finger, Talipes equinovarus, Hyperlipidemia, Small hand, Genu valgum, Sho... |
ORPHA:289522 |
Dacryocystitis-Osteopoikilosis Syndrome |
|
Increased bone mineral density, Osteopoikilosis |
ORPHA:1562 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Decreased circulating apolipoprotein AI concentration, Hypocholesterolemia, Decreased HDL cholest... |
OMIM:620058 |
Auditory Neuropathy, Autosomal Dominant 1 |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:609129 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Elbow ankylosis, Decreased circulating androgen concentration, Craniosynostosis, Decreased circul... |
ORPHA:95699 |
Fabry Disease |
|
Angina pectoris, Abnormality of femur morphology, Telangiectasia of the skin, Transient ischemic ... |
ORPHA:324 |
Nestor-Guillermo Progeria Syndrome |
|
Failure to thrive, Joint stiffness, Microretrognathia, Flexion contracture, Micrognathia, Mitral ... |
OMIM:614008 |
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert |
|
Hypertension, Telangiectases producing 'marbled' skin |
OMIM:206570 |
Lipodystrophy, Familial Partial, Type 2 |
|
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Hyperinsulinemia, ... |
OMIM:151660 |
Coproporphyria, Hereditary |
|
Hepatomegaly, Splenomegaly, Tachycardia, Hypertension, Jaundice |
OMIM:121300 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Metaphyseal cupping, Short ribs, Small for gestational age, Iliac crest serration, Micromelia, Hy... |
OMIM:613320 |
Deafness, Autosomal Recessive 9 |
|
Sensorineural hearing impairment, Absent brainstem auditory responses |
OMIM:601071 |
Tropical Pancreatitis |
|
Chronic calcifying pancreatitis, Abnormal pancreatic duct morphology, Maternal diabetes, Insulin-... |
ORPHA:103918 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Abnormal humeral metaphysis morphology, Premature osteoarthritis, Limb joint contracture, Abnorma... |
ORPHA:93314 |
Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment |
OMIM:616515 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Failure to thrive, Hepatomegaly, Splenomegaly, Cirrhosis, Elevated circulating creatine kinase co... |
ORPHA:370 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Failure to thrive, Hyperbilirubinemia, Cirrhosis, Decreased HDL cholesterol concentration, Hyperm... |
OMIM:605814 |
Woodhouse-Sakati Syndrome |
|
Hyperinsulinemia, Hyperlipidemia, Abnormal T-wave, Decreased serum testosterone concentration, St... |
ORPHA:3464 |
Microphthalmia With Limb Anomalies |
|
Sandal gap, Bowing of the long bones, Short long bone, Clinodactyly of the 5th finger, Talipes eq... |
ORPHA:1106 |
Low Phospholipid-Associated Cholelithiasis |
|
Cholelithiasis, Neoplasm of the liver, Pancreatitis, Hepatocellular carcinoma, Sclerosing cholang... |
ORPHA:69663 |
Temple Syndrome |
|
Precocious puberty, Type II diabetes mellitus, Decreased response to growth hormone stimulation t... |
ORPHA:254516 |
Familial Chylomicronemia Syndrome |
|
Failure to thrive, Hyperlipidemia, Decreased body weight, Hepatosplenomegaly, Pulmonary embolism,... |
ORPHA:444490 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Intrauterine growth retardation, Precocious puberty, Maturity-onset diabetes of the young, Postna... |
ORPHA:254531 |
Peripartum Cardiomyopathy |
|
Myocarditis, Heart murmur, Pedal edema, Reduced left ventricular ejection fraction, Left bundle b... |
ORPHA:563 |
Hypophosphatasia, Adult |
|
Recurrent fractures, Chondrocalcinosis, Osteomalacia, Pathologic fracture, Abnormal foot morpholo... |
OMIM:146300 |
Mesomelic Dysplasia, Savarirayan Type |
|
Dislocated radial head, Short tibia, Talipes equinovalgus, Mesomelia, Abnormal foot morphology, H... |
OMIM:605274 |
Alkaptonuria |
|
Joint stiffness, Prostatitis, Reduced bone mineral density, Osteoarthritis, Cartilage destruction... |
ORPHA:56 |
Aicardi-Goutieres Syndrome 9 |
|
Failure to thrive, Hepatomegaly, Anemia, Hepatosplenomegaly, Osteoporosis, Pericarditis, Hemolyti... |
OMIM:619487 |
Fanconi Renotubular Syndrome 2 |
|
Osteopenia, Glycosuria, Rickets |
OMIM:613388 |
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome |
|
Neonatal insulin-dependent diabetes mellitus, Aplasia/Hypoplasia of the pancreas |
ORPHA:65288 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Hyperinsulinemia, Type II diabetes mellitus, Hepatomegaly, Splenomegaly, Cystic angiomatosis of b... |
OMIM:269700 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Hyperinsulinemia, Short sternum, Osteopenia, Irregular proximal tibial epiphyses, High urinary go... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Hyperinsulinemia, Short sternum, Osteopenia, Irregular proximal tibial epiphyses, High urinary go... |
ORPHA:99228 |
Monosomy X |
|
Hyperinsulinemia, Short sternum, Osteopenia, Irregular proximal tibial epiphyses, High urinary go... |
ORPHA:99226 |
Turner Syndrome |
|
Hyperinsulinemia, Short sternum, Osteopenia, Irregular proximal tibial epiphyses, High urinary go... |
ORPHA:881 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Wide anterior fontanel, Increased bone mineral density, Micrognathia, Osteopenia, Broad femoral n... |
ORPHA:85184 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Tibial bowing, Hand oligodactyly, Short tibia, Syndactyly, Foot oligodactyly, Fibular aplasia |
OMIM:246570 |
Acheiropody |
|
Aplasia of the ulna, Absent hand, Short tibia, Lower limb peromelia, Carpal bone aplasia, Short h... |
OMIM:200500 |
Melnick-Needles Syndrome |
|
Short distal phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand, Short clavicl... |
ORPHA:2484 |
Bardet-Biedl Syndrome 1 |
|
Abdominal obesity, Nephrogenic diabetes insipidus, Postaxial polydactyly, Insulin resistance, Bra... |
OMIM:209900 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Failure to thrive, Increased circulating antibody level, Lymphopenia, Hepatomegaly, Flexion contr... |
OMIM:617591 |
Diffuse Cutaneous Systemic Sclerosis |
|
Telangiectasia of the skin, Narrow foramen obturatorium, Flexion contracture, Xerostomia, Arthrit... |
ORPHA:220393 |
Hypercholesterolemia, Familial, 4 |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Hypercholesterolemia |
OMIM:603813 |
Arthrogryposis, Distal, Type 2A |
|
Flexion contracture of finger, Rocker bottom foot, Talipes equinovarus, Ulnar deviation of the ha... |
OMIM:193700 |
Rothmund-Thomson Syndrome Type 2 |
|
Metaphyseal sclerosis, Osteopenia, Aplastic anemia, Calcinosis, Abnormality of the radial head, L... |
ORPHA:221016 |
Endove Syndrome, Limb-Only Type |
|
Aplasia of the distal phalanges of the toes, Short middle phalanx of the 2nd finger, Cutaneous sy... |
OMIM:619217 |
Infantile Systemic Hyalinosis |
|
Recurrent fractures, Joint stiffness, Failure to thrive, Osteopenia, Camptodactyly of finger, Abn... |
ORPHA:2176 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Metaphyseal irregularity, Dislocated radial head, Knee dislocation, Short femoral neck, Tapered f... |
OMIM:618395 |
Proteus Syndrome |
|
Hypertrophy of skin of soles, Calvarial hyperostosis, Splenomegaly, Thin bony cortex, Mandibular ... |
OMIM:176920 |
Alg12-Cdg |
|
B lymphocytopenia, Sandal gap, Complete or near-complete absence of specific antibody response to... |
ORPHA:79324 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Lymphopenia, Abnormal circulating lipid concentration, Pes cavus, Truncal obesity, Limb undergrow... |
OMIM:616541 |
Dent Disease |
|
Metaphyseal irregularity, Delayed epiphyseal ossification, Bowing of the legs, Sparse bone trabec... |
ORPHA:1652 |
Rhabdoid Tumor |
|
Neoplasm of the liver, Weight loss, Internal hemorrhage, Hypercalcemia, Hypertension, Anemia, Thr... |
ORPHA:69077 |
Monosomy 13Q34 |
|
Infantile hypercalcemia, Pulmonic stenosis, Micrognathia, Hematochezia, Postaxial hand polydactyl... |
ORPHA:96168 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Flexion contracture of thumb, Hepatomegaly, Hepatoblastoma, Absent glenoid fossa, Clinodactyly of... |
ORPHA:96334 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Failure to thrive, Pulmonary arterial hypertension, Hypertension |
OMIM:605711 |
Osteopetrosis, Autosomal Recessive 7 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Hepatomegaly, Splenomegaly, Ost... |
OMIM:612301 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi... |
ORPHA:79506 |
Otopalatodigital Syndrome, Type I |
|
Short 3rd metacarpal, Broad hallux, Sandal gap, Omphalocele, Broad distal phalanx of the thumb, A... |
OMIM:311300 |
Macrophage Activation Syndrome |
|
Increased circulating ferritin concentration, Neutropenia, Elevated circulating C-reactive protei... |
ORPHA:158061 |
Orofaciodigital Syndrome Ix |
|
Hand polydactyly, Short tibia, Camptodactyly, Toe syndactyly |
OMIM:258865 |
Hepatic Lipase Deficiency |
|
Angina pectoris, Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:614025 |
Nail-Patella-Like Renal Disease |
|
Hypertension |
ORPHA:2613 |
Florid Cemento-Osseous Dysplasia |
|
Abnormal bone structure, Multiple bony cystic lesions, Mandibular osteomyelitis, Abnormal trabecu... |
ORPHA:83451 |
Lysinuric Protein Intolerance |
|
Increased circulating ferritin concentration, Pancreatitis, Hepatomegaly, Hemophagocytosis, Steat... |
ORPHA:470 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, EEG abnormality, Facial pa... |
OMIM:617519 |
Osteogenesis Imperfecta, Type Ii |
|
Recurrent fractures, Tibial bowing, Small for gestational age, Pulmonary insufficiency, Limb unde... |
OMIM:166210 |
Gitelman Syndrome |
|
Graves disease, Gout, Type I diabetes mellitus, Primary hyperaldosteronism, Prolonged QT interval... |
ORPHA:358 |
Gaucher Disease, Type I |
|
Aortic valve stenosis, Hepatomegaly, Splenomegaly, Mitral regurgitation, Thrombocytopenia, Pathol... |
OMIM:230800 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Aplasia/Hypoplasia of the thumb, Anterior vertebral fusion, Mesomelic arm shortening, Short humer... |
OMIM:171480 |
Hutchinson-Gilford Progeria Syndrome |
|
Angina pectoris, Limitation of movement at ankles, Pubertal developmental failure in females, Myo... |
ORPHA:740 |
19P13.12 Microdeletion Syndrome |
|
Clinodactyly of the 5th finger, Toe clinodactyly, Deep plantar creases, Hyperlipidemia, Craniosyn... |
ORPHA:254346 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Failure to thrive, Hyperinsulinemic hypoglycemia, Hepatomegaly, Cirrhosis, Hepatic fibrosis |
OMIM:602579 |
Primary Membranoproliferative Glomerulonephritis |
|
Myocardial infarction, Hypertension, Hypoalbuminemia |
ORPHA:54370 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Sensorineural hearing impairment, Recurrent fractures, Glycosuria, Rickets, Optic atrophy, Optic ... |
OMIM:268315 |
Glomerulopathy With Fibronectin Deposits 2 |
|
Hypertension |
OMIM:601894 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Wide anterior fontanel, Narrow greater sciatic notch, Postaxial polydactyly, Preaxial polydactyly... |
OMIM:617925 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Failure to thrive, Hypertension |
OMIM:616069 |
Lead Poisoning |
|
Increased LDL cholesterol concentration, Small for gestational age, Decreased HDL cholesterol con... |
ORPHA:330015 |
Osteogenesis Imperfecta, Type Xviii |
|
Recurrent fractures, Femoral bowing, Micrognathia, Thin bony cortex, Joint laxity, Bowing of the ... |
OMIM:617952 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Recurrent fractures, Episodic hemolytic anemia, Increased blood urea nitrogen, Craniosynostosis, ... |
ORPHA:251004 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Failure to thrive, Hepatomegaly, Flexion contracture, Short femur, Short humerus, Polydactyly, Hy... |
ORPHA:17 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Severe intrauterine growth retardation, Failure to thrive, Precocious puberty, Decreased response... |
ORPHA:96182 |
Nephrotic Syndrome, Type 14 |
|
Adrenal insufficiency, Lymphopenia, Hypoglycemia, Hypertriglyceridemia, Hypothyroidism, Hypoalbum... |
OMIM:617575 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Flexion contracture, Tachycardia, Tapered finger, Hypertension, Contractures of the interphalange... |
OMIM:613870 |
Familial Multiple Lipomatosis |
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Insulin resistance, Hyperlipidemia, Bowing of the long bones |
ORPHA:199276 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
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Increased circulating ferritin concentration, Failure to thrive, Hepatomegaly, Hemophagocytosis, ... |
OMIM:267700 |
Spondyloenchondrodysplasia |
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Short distal phalanx of finger, Bowing of the legs, Metaphyseal dysplasia, Decreased response to ... |
ORPHA:1855 |
Post-Traumatic Pituitary Deficiency |
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Abnormal prolactin level, Decreased response to growth hormone stimulation test, Osteopenia, Hypo... |
ORPHA:95619 |
Autosomal Dominant Hypophosphatemic Rickets |
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Bowing of the legs, Osteomalacia, Iron deficiency anemia, Tooth abscess, Rickets |
ORPHA:89937 |
Glomerulopathy With Fibronectin Deposits 1 |
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Hypertension |
OMIM:137950 |
Caudal Regression Syndrome |
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Joint stiffness, Hypoplastic vertebral bodies, Abnormal iliac wing morphology, Talipes equinovaru... |
ORPHA:3027 |
Growth Factors, Combined Defect Of |
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Reduced subcutaneous adipose tissue, Flexion contracture, Micrognathia, Plantar hyperkeratosis, L... |
OMIM:233805 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
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Glycosuria, Large for gestational age, Hypoglycemia, Diabetes mellitus, Rickets |
OMIM:616026 |
Osteogenesis Imperfecta, Type Viii |
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Recurrent fractures, Tibial bowing, Wide anterior fontanel, Radial bowing, Short metacarpal, Dent... |
OMIM:610915 |
Calvarial Doughnut Lesions With Bone Fragility |
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Recurrent fractures, Osteopenia, Osteoporosis, Femoral bowing |
OMIM:126550 |
Multiple Osteochondromas |
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Abnormality of femur morphology, Hemothorax, Abnormal hand morphology, Abnormality of fibula morp... |
ORPHA:321 |
Glycogen Storage Disease Iii |
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Hyperlipidemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Hypoglycemia, H... |
OMIM:232400 |
Citrullinemia Type Ii |
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