Coronary Artery Disease, Autosomal Dominant 2 |
|
Hypertriglyceridemia, Impaired glucose tolerance, Osteoporosis, Gout, Increased LDL cholesterol c... |
OMIM:610947 |
Syndactyly Type 4 |
|
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Limitation of join... |
ORPHA:93405 |
Osteochondrosis Of The Metatarsal Bone |
|
Flattened metatarsal heads, Abnormality of the fifth metatarsal bone, Sclerosis of foot bone, Abn... |
ORPHA:564003 |
Mueller-Weiss Syndrome |
|
Limitation of movement at ankles, Pes planus, Edema of the dorsum of feet, Sclerosis of foot bone... |
ORPHA:566943 |
Buschke-Ollendorff Syndrome |
|
Lower limb asymmetry, Connective tissue nevi, Joint stiffness, Osteopoikilosis, Flexion contracture |
OMIM:166700 |
Acromesomelic Dysplasia 2A |
|
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... |
OMIM:200700 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Micromelia, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb undergrowth, Short ... |
OMIM:118651 |
Melorheostosis With Osteopoikilosis |
|
Complete duplication of the distal phalanges of the hand, Osteopoikilosis, Abnormal cortical bone... |
ORPHA:1879 |
Glycogen Storage Disease Vi |
|
Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia, Hypoglycemia |
OMIM:232700 |
Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Ectopic ossification, Increased bone mineral density, Diabetes mellitus |
OMIM:602475 |
Lipodystrophy, Familial Partial, Type 1 |
|
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipodystrophy, Increased subc... |
OMIM:608600 |
Osteosclerotic Metaphyseal Dysplasia |
|
Dense metaphyseal bands, Metaphyseal dysplasia, Increased bone mineral density, Clavicular sclerosis |
OMIM:615198 |
Fibular Hemimelia |
|
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... |
ORPHA:93323 |
Isolated Osteopoikilosis |
|
Syndactyly, Abnormally ossified vertebrae, Increased bone mineral density, Abnormal pelvis bone m... |
ORPHA:166119 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Broad tibial metaphyses, Tibial bowing, Humerus varus, Exostoses of the ulna, Scleros... |
ORPHA:85188 |
Osebold-Remondini Syndrome |
|
Decreased finger mobility, Broad toe, Dysplastic distal radial epiphyses, Hypoplasia of the ulna,... |
OMIM:112910 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypertriglyceridemia, Hypoglycemia |
ORPHA:366 |
Acromesomelic Dysplasia, Grebe Type |
|
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... |
ORPHA:2098 |
Atherosclerosis Susceptibility |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:108725 |
Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
Acromesomelic Dysplasia 2C |
|
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida... |
OMIM:201250 |
Leri-Weill Dyschondrosteosis |
|
Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul... |
OMIM:127300 |
Lipodystrophy, Familial Partial, Type 3 |
|
Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su... |
OMIM:604367 |
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Elbow flexion contractu... |
OMIM:616516 |
Plin1-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... |
ORPHA:280356 |
Lipase Deficiency, Combined |
|
Hypertriglyceridemia, Lipodystrophy, Type II diabetes mellitus |
OMIM:246650 |
Sclerosteosis |
|
Craniofacial hyperostosis, Increased bone mineral density, Finger syndactyly, 2-3 finger syndacty... |
ORPHA:3152 |
Léri-Weill Dyschondrosteosis |
|
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... |
ORPHA:240 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Increased bone mineral density, Craniosynostosis, Rickets, Hypophosphatemia, Hypophosphatemic ric... |
OMIM:241520 |
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
|
Increased bone mineral density, Pedal edema |
ORPHA:75325 |
Morbid Obesity And Spermatogenic Failure |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin resistance, Increased LDL ... |
OMIM:615703 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Bulging epiphyses, Bowing of the long bones, Delayed epiphyseal ossification, Rickets, Genu varum... |
OMIM:600785 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Reduced subcutaneous adipose tissue, Diabetes mellitus, Hypertriglyceridemia, Lipodystrophy, Insu... |
OMIM:612526 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertriglyceridemia, Hyperinsulinemia, Type II diabetes mellitus, Increased adipose tissue |
ORPHA:71529 |
Dentin Dysplasia |
|
Increased bone mineral density, Abnormal dental enamel morphology |
ORPHA:1653 |
Hyperostosis Corticalis Generalisata |
|
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis, Diaphyseal t... |
ORPHA:3416 |
Lethal Faciocardiomelic Dysplasia |
|
Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ... |
ORPHA:1972 |
Osteosclerosis With Ichthyosis And Fractures |
|
Increased bone mineral density, Recurrent fractures, Femoral bowing, Tibial bowing, Cortical thic... |
OMIM:166740 |
Osteomesopyknosis |
|
Increased bone mineral density |
OMIM:166450 |
Acrocapitofemoral Dysplasia |
|
Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short... |
OMIM:607778 |
Fish-Eye Disease |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... |
OMIM:136120 |
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Clinodactyly of the 5th finger, Hypertriglyceridemia, Clinodactyly of the 5th toe |
OMIM:618010 |
12q14 microdeletion syndrome |
|
Osteopoikilosis |
DECIPHER:76 |
Mandibuloacral Dysplasia |
|
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Increased subcut... |
ORPHA:2457 |
Hypertriglyceridemia 1 |
|
Glucose intolerance, Hypertriglyceridemia, Increased VLDL cholesterol concentration |
OMIM:145750 |
Endosteal Hyperostosis, Worth Type |
|
Craniofacial hyperostosis, Generalized osteosclerosis, Clavicular sclerosis, Abnormal cortical bo... |
ORPHA:2790 |
Otopalatodigital Syndrome Type 1 |
|
Increased bone mineral density, Bowing of the long bones, Sandal gap, Proximal placement of thumb... |
ORPHA:90650 |
Lipodystrophy, Familial Partial, Type 4 |
|
Hypertriglyceridemia, Lipodystrophy, Lipoatrophy, Insulin-resistant diabetes mellitus, Insulin re... |
OMIM:613877 |
Pyknoachondrogenesis |
|
Increased bone mineral density |
OMIM:265880 |
Eiken Syndrome |
|
Short palm, Abnormal trabecular bone morphology, Absence of the sacrum, Abnormal acetabulum morph... |
ORPHA:79106 |
Melorheostosis |
|
Increased bone mineral density, Joint stiffness, Lower limb asymmetry, Atypical scarring of skin,... |
ORPHA:2485 |
Langer Mesomelic Dysplasia |
|
Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Short femoral neck... |
OMIM:249700 |
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood urea nitrogen |
OMIM:620085 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:144300 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Tremor, Hypertriglyceridemia, Dystonia |
OMIM:615924 |
Osteomesopyknosis |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2777 |
Neutral Lipid Storage Disease With Myopathy |
|
Diabetes mellitus, Hypertriglyceridemia, Elevated circulating creatine kinase concentration |
OMIM:610717 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Micrognathia |
ORPHA:436182 |
Axial Osteomalacia |
|
Increased bone mineral density, Osteomalacia, Elevated circulating creatine kinase concentration |
OMIM:109130 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Shortening of the talar neck, Osteomalacia, Bowing of the legs, Abnormal circulating calcium conc... |
OMIM:307800 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Elevated circulating creatinine concentration, Hypoglycemia, Increased blood urea nitrogen |
OMIM:617872 |
Flynn-Aird Syndrome |
|
Increased bone mineral density, Osteoporosis, Increased bone density with cystic changes, Joint s... |
OMIM:136300 |
Acheiropody |
|
Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t... |
OMIM:200500 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hypertriglyceridemia |
OMIM:619175 |
Osteopoikilosis And Dacryocystitis |
|
Osteopoikilosis |
OMIM:166705 |
Van Buchem Disease |
|
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones |
OMIM:239100 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Limb undergrowth, Increased bone mineral density, Abnormal cortical bone morphology, Abnormal lim... |
ORPHA:2204 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Diabetes mellitus, Lipodystro... |
OMIM:615381 |
Osteopetrosis, Autosomal Recessive 9 |
|
Increased bone mineral density, Cortical sclerosis, Elevated circulating creatinine concentration... |
OMIM:620366 |
Diabetes Mellitus, Permanent Neonatal, 2 |
|
Type I diabetes mellitus, Reduced C-peptide level, Hyperglycemia, Flexion contracture |
OMIM:618856 |
Intermediate Osteopetrosis |
|
Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Increased sus... |
ORPHA:210110 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia |
OMIM:246570 |
Lipe-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipodystrophy, Elevated circu... |
ORPHA:435660 |
Glycogen Storage Disease Ixa1 |
|
Hypercholesterolemia, Hypertriglyceridemia, Hypoglycemia, Hyperuricemia |
OMIM:306000 |
Hypophosphatemic Bone Disease |
|
Bowing of the legs, Rickets, Osteomalacia, Hypophosphatemia |
OMIM:146350 |
Lethal Recessive Chondrodysplasia |
|
Micromelia, Micrognathia, Generalized osteosclerosis, Short long bone, Flared elbow metaphyses, L... |
ORPHA:1423 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Reduced intraabdominal adipose tissue,... |
ORPHA:363400 |
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Increased bone mineral density, Craniosynostosis |
ORPHA:178377 |
Hypercholesterolemia, Familial, 4 |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration |
OMIM:603813 |
Temple Syndrome |
|
Hypertriglyceridemia, Maturity-onset diabetes of the young, Micrognathia, Flexion contracture, Sm... |
OMIM:616222 |
Endove Syndrome, Limb-Only Type |
|
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti... |
OMIM:619217 |
Body Mass Index Quantitative Trait Locus 20 |
|
Increased bone mineral density, Hyperinsulinemia |
OMIM:618406 |
Orofaciodigital Syndrome Type 10 |
|
Radial deviation of the hand, Tarsal synostosis, Duplication of thumb phalanx, Micrognathia, Shor... |
ORPHA:2756 |
Slc35A2-Cdg |
|
Osteopenia, Limb joint contracture, Increased circulating thyroglobulin level, Craniosynostosis, ... |
ORPHA:356961 |
Osteopetrosis, Autosomal Recessive 6 |
|
Dense metaphyseal bands, Osteopetrosis, Erlenmeyer flask deformity of the femurs, Cortical sclero... |
OMIM:611497 |
Diastrophic Dysplasia |
|
Increased bone mineral density, Bowing of the long bones, Camptodactyly of finger, Micromelia, Jo... |
ORPHA:628 |
Congenital Generalized Lipodystrophy |
|
Hypertriglyceridemia, Diabetes mellitus, Lipodystrophy, Adipose tissue loss, Insulin resistance, ... |
ORPHA:528 |
Albers-Schönberg Osteopetrosis |
|
Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Generalized osteosclerosis, Osteoar... |
ORPHA:53 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Bowing of the legs, Delayed ep... |
OMIM:600081 |
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
|
Short tibia, Hypoplasia of the radius, Pseudoarthrosis |
OMIM:156230 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ... |
OMIM:612447 |
Lipodystrophy, Familial Partial, Type 2 |
|
Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su... |
OMIM:151660 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Omphalocele, Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyl... |
ORPHA:3329 |
Dacryocystitis-Osteopoikilosis Syndrome |
|
Increased bone mineral density, Osteopoikilosis |
ORPHA:1562 |
Mesomelic Dysplasia, Savarirayan Type |
|
Abnormal foot morphology, Talipes equinovalgus, Hip dislocation, Mesomelia, Short tibia, Dislocat... |
OMIM:605274 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Osteomalacia, Bowing of the le... |
OMIM:300554 |
Hip Dysplasia, Beukes Type |
|
Abnormality of the epiphysis of the femoral head, Abnormal ossification involving the femoral hea... |
ORPHA:2114 |
Tibial Hemimelia |
|
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased... |
ORPHA:93322 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Osteomalacia, Recurrent fractures, Bone cyst, Genu varum, Osteolysis, Genu valgum, Abnormal adipo... |
ORPHA:93160 |
Fanconi-Bickel Syndrome |
|
Osteopenia, Bowing of the long bones, Hypertriglyceridemia, Diabetes mellitus, Impaired glucose t... |
ORPHA:2088 |
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication |
OMIM:188740 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Osteopenia, Short humerus, Increased bone mineral density, Bowing of the long bones, Recurrent fr... |
OMIM:239000 |
Osteopetrosis, Autosomal Dominant 1 |
|
Generalized osteosclerosis, Abnormal pelvic girdle bone morphology, Osteopetrosis, Calvarial oste... |
OMIM:607634 |
Fanconi Renotubular Syndrome 3 |
|
Bowing of the legs, Glycosuria, Elevated circulating creatinine concentration, Rickets |
OMIM:615605 |
Spondyloepiphyseal Dysplasia Tarda |
|
Osteoarthritis of the distal interphalangeal joint, Abnormality of the tibial plateaux, Limited e... |
ORPHA:93284 |
Cidec-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipodystrophy, Insulin-resist... |
ORPHA:435651 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Osteopenia, Micrognathia, Flexion contracture, Hyperglycemia, Calcinosis, Short clavicles, Short ... |
OMIM:248370 |
Body Mass Index Quantitative Trait Locus 19 |
|
Insulin resistance, Hyperlipidemia, Hypertriglyceridemia, Hyperinsulinemia |
OMIM:617885 |
X-Linked Hypophosphatemia |
|
Bowing of the legs, Generalized osteosclerosis, Trapezoidal distal femoral condyles, Reduced bone... |
ORPHA:89936 |
Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Short metacarpal, Brachydactyly, Short toe, Split hand, Short tibia, Finger symphalangism, Contra... |
OMIM:612576 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Lipodystrophy, Insulin-resistant diabetes mellitus, Insulin resistance, Inc... |
ORPHA:79085 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Craniofacial hyperostosis, Craniofacial osteosclerosis, Diaphyseal sclerosis, Cortical sclerosis |
OMIM:122860 |
Trichodentoosseous Syndrome |
|
Increased bone mineral density |
OMIM:190320 |
Chondrodysplasia, Blomstrand Type |
|
Micromelia, Micrognathia, Generalized osteosclerosis, Squared iliac bones, Flared metaphysis, Adv... |
OMIM:215045 |
Lipodystrophy, Familial Partial, Type 5 |
|
Diabetic ketoacidosis, Hypertriglyceridemia, Lipodystrophy, Increased C-peptide level |
OMIM:615238 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hyperlipidemia, Mildly elevated creatine kinase, Hand tremor, Hyperglycemia |
OMIM:604484 |
Orofaciodigital Syndrome Viii |
|
Syndactyly, Short tibia, Polydactyly |
OMIM:300484 |
Interstitial Nephritis, Karyomegalic |
|
Glycosuria, Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:614817 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Bowing of the legs, Abnormal c... |
OMIM:241530 |
Osteogenesis Imperfecta, Type Xiii |
|
Angulated humerus, Increased bone mineral density, Arachnodactyly, Recurrent fractures, Wide dist... |
OMIM:614856 |
Melorheostosis, Isolated |
|
Hyperostosis, Increased bone mineral density |
OMIM:155950 |
Orthostatic Hypotension 1 |
|
Joint hypermobility, Increased blood urea nitrogen, Hypomagnesemia, Neonatal hypoglycemia, Brachy... |
OMIM:223360 |
Hypophosphatemic Rickets, Autosomal Dominant |
|
Osteomalacia, Abnormality of the lower limb, Rickets, Hypophosphatemia, Hypophosphatemic rickets |
OMIM:193100 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Micrognathia,... |
OMIM:608612 |
Niemann-Pick Disease, Type B |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... |
OMIM:607616 |
Osteopetrosis, Autosomal Dominant 2 |
|
Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle... |
OMIM:166600 |
Osteopetrosis, Autosomal Recessive 1 |
|
Increased bone mineral density, Osteomyelitis, Femur fracture, Craniosynostosis, Flared metaphysi... |
OMIM:259700 |
Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:613370 |
Pparg-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Calf muscle pseudohypertrophy, Hypertriglyceridemia... |
ORPHA:79083 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperlipidemia, Hyperinsulinemia, Hyperglycemia |
ORPHA:329249 |
Bent Bone Dysplasia Syndrome 2 |
|
Osteopenia, Ulnar deviation of the hand, Bowed humerus, Short tibia, Ulnar bowing, Femoral bowing... |
OMIM:620076 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Increased bone mineral density, Micrognathia, Coxa valga, Flat acetabular roof, Flattened epiphys... |
ORPHA:163649 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:245900 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Thin bony cortex, Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Bowing of th... |
OMIM:264700 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
|
11 pairs of ribs, Overlapping toe, Micrognathia, Fibular hypoplasia, Talipes equinovarus, Triphal... |
OMIM:201170 |
Gollop-Wolfgang Complex |
|
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o... |
ORPHA:1986 |
Dent Disease 1 |
|
Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Osteomalacia, Bowing of the le... |
OMIM:300009 |
Stuve-Wiedemann Syndrome 1 |
|
Micrognathia, Knee flexion contracture, Femoral bowing, Tibial bowing, Short tibia, Short phalanx... |
OMIM:601559 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Abnormal trabecular bone morphology, Increased bone mineral density, Renal hypophosphatemia, Oste... |
ORPHA:289176 |
Hypertriglyceridemia, Transient Infantile |
|
Hypertriglyceridemia |
OMIM:614480 |
Greig Cephalopolysyndactyly Syndrome |
|
Broad hallux phalanx, Inguinal hernia, Broad hallux, Craniosynostosis, 1-3 toe syndactyly, Preaxi... |
OMIM:175700 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Short humerus, Short femur, Rhizomelia, Sandal gap, Hypoglycemia, Hypoplasia of the radius, Short... |
OMIM:607143 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hypertriglyceridemia |
OMIM:608898 |
Dermatosparaxis Ehlers-Danlos Syndrome |
|
Osteopenia, Inguinal hernia, Scarring, Abnormality of subcutaneous fat tissue, Osteomalacia, Femo... |
ORPHA:1901 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... |
ORPHA:79506 |
Vitamin D-Dependent Rickets, Type 2A |
|
Thin bony cortex, Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Bowing of th... |
OMIM:277440 |
Dentin Dysplasia With Sclerotic Bones |
|
Dentinogenesis imperfecta limited to primary teeth, Cortical sclerosis |
OMIM:125440 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Increased bone mineral density, Broad femoral neck, Short tubular bones of the hand, ... |
ORPHA:85184 |
Maturity-Onset Diabetes Of The Young, Type 13 |
|
Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet... |
OMIM:616329 |
Diabetes Mellitus, Permanent Neonatal, 4 |
|
Elevated hemoglobin A1c, Reduced C-peptide level, Diabetic ketoacidosis, Type I diabetes mellitus... |
OMIM:618858 |
Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Delayed epiphyseal ossification, F... |
ORPHA:166016 |
Acquired Generalized Lipodystrophy |
|
Calf muscle pseudohypertrophy, Hypertriglyceridemia, Insulin resistance, Insulin-resistant diabet... |
ORPHA:79086 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Joint st... |
ORPHA:98855 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Arachnodactyly, Hypertriglyceridemia, Hypoalbuminemia, Joint hypermobility |
OMIM:619013 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Hyperostosis, Abnormal pelvic girdle bone morphology, Metacarpal diaphyseal endosteal sclerosis, ... |
OMIM:144750 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su... |
ORPHA:280365 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:603552 |
Laurin-Sandrow Syndrome |
|
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B... |
OMIM:135750 |
Microphthalmia With Limb Anomalies |
|
Micrognathia, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of... |
ORPHA:1106 |
Lipodystrophy, Familial Partial, Type 6 |
|
Diabetes mellitus, Lipodystrophy, Elevated circulating creatine kinase concentration, Insulin res... |
OMIM:615980 |
Papular Xanthoma |
|
Hyperlipidemia |
ORPHA:158008 |
Hypophosphatasia, Adult |
|
Recurrent fractures, Osteomalacia, Abnormal foot morphology, Rickets, Increased susceptibility to... |
OMIM:146300 |
Weismann-Netter Syndrome |
|
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia... |
ORPHA:3344 |
Dysosteosclerosis |
|
Osteopenia, Sclerosis of hand bone, Sclerotic scapulae, Micrognathia, Absent frontal sinuses, Abn... |
OMIM:224300 |
Diabetes Mellitus, Transient Neonatal, 3 |
|
Elevated hemoglobin A1c, Maternal diabetes, Reduced C-peptide level, Transient neonatal diabetes ... |
OMIM:610582 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Loss of subcutaneous adipose tissue in limbs, Diabetes mellitus, Hypertriglyceridemia, Lipodystro... |
ORPHA:2348 |
Microcephaly-Micromelia Syndrome |
|
Craniosynostosis, Micrognathia, Micromelia, Absent thumb, Absent radius, Humeroradial synostosis,... |
OMIM:251230 |
Hypercholanemia, Familial 1 |
|
Rickets, Increased serum bile acid concentration, Steatorrhea |
OMIM:607748 |
Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small... |
ORPHA:93356 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Thin bony cortex, Enlargement of the ankles, Osteomalacia, Irregular, rachitic-like metaphyses, S... |
ORPHA:289157 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated hemoglobin A1c, Increased... |
OMIM:618620 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Osteomalacia, Bowing of the legs, Increased circulating beta-C-terminal telopeptide concentration... |
ORPHA:157215 |
Diabetes Mellitus, Permanent Neonatal, 1 |
|
Diabetes mellitus, Elevated hemoglobin A1c, Reduced C-peptide level, Type I diabetes mellitus, Hy... |
OMIM:606176 |
Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Postaxial polydactyly, Micrognathia, Hand polydactyly, Foot polydactyly, Short fi... |
OMIM:258860 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Diabetes mellitus, Hypomagnesemia, Hyperuricemia, Increased blood urea nitrogen |
OMIM:613845 |
Xp21 Deletion Syndrome |
|
Joint laxity, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Osteoporo... |
ORPHA:261476 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Joint st... |
ORPHA:98863 |
Drug-Induced Lupus Erythematosus |
|
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... |
ORPHA:231111 |
Emery-Dreifuss Muscular Dystrophy |
|
Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Joint st... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Joint st... |
ORPHA:98853 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Osteomalacia, Bowing of the legs, Rickets, Hypocalcemia, Hypophosphatemia |
ORPHA:89937 |
Dysosteosclerosis |
|
Craniofacial hyperostosis, Increased bone mineral density, Recurrent fractures, Abnormal dental e... |
ORPHA:1782 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:300635 |
Ghosal Hematodiaphyseal Dysplasia |
|
Myelofibrosis, Increased bone mineral density, Diaphyseal dysplasia, Hyperostosis cranialis interna |
OMIM:231095 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Osteopenia, Widened atrophic scar, Equinus calcaneus, Micrognathia, Knee dislocation, Shoulder di... |
ORPHA:536532 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... |
OMIM:228930 |
Cholesteryl Ester Storage Disease |
|
Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:75234 |
Pseudohypoparathyroidism Type 1C |
|
Calcinosis, Increased bone mineral density, Short metacarpal, Short fifth metatarsal, Short metat... |
ORPHA:79444 |
Autoimmune Hypoparathyroidism |
|
Increased bone mineral density, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Laryngeal d... |
ORPHA:36913 |
Pseudohypoparathyroidism Type 1B |
|
Calcinosis, Increased bone mineral density, Cortical subperiosteal resorption of humeral metaphys... |
ORPHA:94089 |
Orofaciodigital Syndrome Ix |
|
Short tibia, Toe syndactyly, Hand polydactyly, Camptodactyly |
OMIM:258865 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Osteopenia, Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentrati... |
OMIM:613327 |
Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
Werner Syndrome |
|
Diabetes mellitus, Hypertriglyceridemia, Elevated hemoglobin A1c, Osteoporosis, Reduced bone mine... |
OMIM:277700 |
Seckel Syndrome 10 |
|
Microretrognathia, Hypertriglyceridemia, Diabetes mellitus, Elevated hemoglobin A1c, Impaired glu... |
OMIM:617253 |
Renal Tubular Acidosis, Distal, 1 |
|
Osteomalacia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia, Pathologi... |
OMIM:179800 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:613101 |
Laurin-Sandrow Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Talipes, A... |
ORPHA:2378 |
Femoral-Facial Syndrome |
|
Inguinal hernia, Short femur, Maternal diabetes, Micrognathia, Coxa vara, Abnormal fibula morphol... |
ORPHA:1988 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Proximal placement of thumb, Micrognathia, Clinodactyly of the 5th finger, Short tibia, Short pha... |
OMIM:268305 |
Transient Neonatal Diabetes Mellitus |
|
Maternal diabetes, Maturity-onset diabetes of the young, Transient neonatal diabetes mellitus, Di... |
ORPHA:99886 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Patellar hy... |
OMIM:609945 |
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
|
Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia... |
ORPHA:988 |
Bile Acid Conjugation Defect 1 |
|
Conjugated hyperbilirubinemia, Rickets |
OMIM:619232 |
Pseudohypoparathyroidism Type 1A |
|
Short metatarsal, Reduced bone mineral density, Choreoathetosis, Hypocalcemia, Hypocalcemic tetan... |
ORPHA:79443 |
Fibrous Dysplasia Of Bone |
|
Abnormal tibia morphology, Abnormal femur morphology, Coxa vara, Patchy reduction of bone mineral... |
ORPHA:249 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Short femur, Abnormal circulating ceruloplasmin concentration, Talipes equinovarus, Abnormal circ... |
OMIM:620306 |
Smith-Magenis Syndrome |
|
Pes planus, Hypertriglyceridemia, Short palm, Hypercholesterolemia, Brachydactyly |
OMIM:182290 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Diabetes mellitus, Hypoglycemia, Hypouricemia, Rickets, Glycosuria, Hypophosphatemia |
OMIM:616026 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hyperlipidemia, Hypoglycemia, Hyperuricemia |
ORPHA:364 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Type II diabetes mellitus, Hyperch... |
OMIM:615812 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Osteopenia, Hyperlipidemia, Osteoporosis, Hypoglycemia |
ORPHA:369 |
Pycnodysostosis |
|
Joint laxity, Increased bone mineral density, Rhizomelia, Micrognathia, Lower limb asymmetry, Gen... |
ORPHA:763 |
Atelosteogenesis Type Iii |
|
Absent humerus, Epiphyseal stippling of the humerus, Micrognathia, Short tubular bones of the han... |
ORPHA:56305 |
Omodysplasia 1 |
|
Short humerus, Rhizomelia, Increased fibular diameter, Micrognathia, Limited knee flexion, Limite... |
OMIM:258315 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Abnormal dental enamel morphology, Recurrent fractures, Hypercalcemia, Craniosynostosis, Increase... |
ORPHA:251004 |
Immunodeficiency 109 With Lymphoproliferation |
|
Hypertriglyceridemia |
OMIM:620282 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Ketotic hypoglycemia, O... |
ORPHA:79240 |
Glycogen Storage Disease Ixc |
|
Hypertriglyceridemia, Hypoglycemia, Fasting hypoglycemia |
OMIM:613027 |
Schnitzler Syndrome |
|
Arthritis, Increased bone mineral density |
ORPHA:37748 |
Werner Syndrome |
|
Increased bone mineral density, Lipodystrophy, Rocker bottom foot, Lipoatrophy, Joint stiffness, ... |
ORPHA:902 |
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency |
|
Hypertriglyceridemia, Increased HDL cholesterol concentration |
ORPHA:140905 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Microretrognathia, Omphalocele, Rhizomelia, Postaxial polydactyly, Squared iliac bones, Preaxial ... |
OMIM:616300 |
Type 1 Diabetes Mellitus |
|
Hyperglycemia, Diabetes mellitus, Decreased level of 1,5 anhydroglucitol in serum |
OMIM:222100 |
Fanconi-Bickel Syndrome |
|
Reduced subcutaneous adipose tissue, Hypouricemia, Osteomalacia, Rickets, Hypophosphatemia, Glyco... |
OMIM:227810 |
Citrullinemia Type Ii |
|
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Tremor, Hype... |
ORPHA:247585 |
Hypobetalipoproteinemia, Familial, 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr... |
OMIM:615558 |
Fanconi Renotubular Syndrome 2 |
|
Osteopenia, Recurrent fractures, Osteomalacia, Rickets, Glycosuria, Hypophosphatemia |
OMIM:613388 |
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Osteopenia, Stenosis of the medullary cavity of the long bones, Diaphyseal cortical sclerosis, Pa... |
OMIM:112250 |
46,Xy Sex Reversal 4 |
|
Micrognathia, Distal symphalangism, Elevated circulating creatinine concentration, Increased bloo... |
OMIM:154230 |
Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo... |
OMIM:119100 |
Dopamine Beta-Hydroxylase Deficiency |
|
Hypoglycemia, Insulin resistance, Hyperinsulinemia, Elevated circulating creatinine concentration... |
ORPHA:230 |
Tangier Disease |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:205400 |
Acromesomelic Dysplasia 2B |
|
Short metacarpal, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Absent toe, Short meta... |
OMIM:228900 |
Osteopetrosis, Autosomal Recessive 4 |
|
Osteopetrosis, Increased bone mineral density, Recurrent fractures |
OMIM:611490 |
Occipital Horn Syndrome |
|
Osteopenia, Coxa vara, Humerus varus, Short palm, Large iliac wing, Femoral hernia, Osteomalacia,... |
ORPHA:198 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Citrullinemia, Type Ii, Adult-Onset |
|
Elevated plasma citrulline, Hypertriglyceridemia, Hyperargininemia, Hyperammonemia |
OMIM:603471 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Increased circulating ferritin concentration, Hypertriglyceridemia, Panniculitis |
OMIM:618398 |
Hyperlipidemia, Familial Combined, 3 |
|
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... |
OMIM:144250 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Head titubation, Increased circulating ferritin concentration, Vestibular areflexia, Osteopetrosi... |
ORPHA:3240 |
Otopalatodigital Syndrome Type 2 |
|
Omphalocele, Increased bone mineral density, Bowing of the long bones, Camptodactyly of finger, T... |
ORPHA:90652 |
Renal Tubular Acidosis Iii |
|
Hypokalemia, Rickets, Osteomalacia |
OMIM:267200 |
Microtriplication 11Q24.1 |
|
Metatarsus adductus, Hyperlipidemia, Limitation of joint mobility, Small hand, Genu valgum, Short... |
ORPHA:289522 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Hypertriglyceridemia, Lipodystrophy, Flexion contracture, Arthritis, Finger swelling, Panniculitis |
OMIM:617591 |
Tricho-Dento-Osseous Syndrome |
|
Finger clinodactyly, Increased bone mineral density, Enamel hypomineralization, Dental enamel pits |
ORPHA:3352 |
Diabetes Mellitus, Transient Neonatal, 1 |
|
Transient neonatal diabetes mellitus, Hyperglycemia |
OMIM:601410 |
Smith-Magenis Syndrome |
|
Pes planus, Hypertriglyceridemia, Toe syndactyly, Micrognathia, Joint stiffness, Hand polydactyly... |
ORPHA:819 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Reduced subcutaneous adipose tissue, Cystic angiomatosis of bone, Hypertriglyceridemia, Diabetes ... |
OMIM:608594 |
Caffey Disease |
|
Cortical irregularity, Bowing of the legs, Periosteal thickening of long tubular bones, Tibial bo... |
OMIM:114000 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Glucose intolerance, Hyperglycemia |
OMIM:307500 |
Dysostosis, Stanescu Type |
|
Increased bone mineral density, Bowing of the long bones, Abnormal dental enamel morphology, Micr... |
ORPHA:1798 |
Glycogen Storage Disease Iii |
|
Hyperlipidemia, Hypoglycemia, Elevated circulating creatine kinase concentration |
OMIM:232400 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati... |
ORPHA:247598 |
Dent Disease |
|
Enlarged epiphyses, Bulging epiphyses, Enlargement of the ankles, Renal hypophosphatemia, Recurre... |
ORPHA:1652 |
Osteopetrosis, Autosomal Recessive 2 |
|
Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Cranial hyperostosis, Diaphyseal sc... |
OMIM:259710 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper... |
OMIM:605814 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Reduced subcutaneous adipose tissue, Cystic angiomatosis of bone, Hypertriglyceridemia, Lipodystr... |
OMIM:269700 |
Lcat Deficiency |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:650 |
Alstrom Syndrome |
|
Pes planus, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin-resistant diab... |
OMIM:203800 |
Dysbetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Diabetes mellitus, Gout, Increased... |
ORPHA:412 |
Schwartz-Jampel Syndrome |
|
Elevated circulating creatine kinase concentration, Micromelia, Micrognathia, Coxa vara, Wrist fl... |
ORPHA:800 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Radial bowing, Rhizomelia, Osteoarthritis, Ulnar bowing, Flared metaphysis, Coxa vara, Tibial bow... |
OMIM:602111 |
Protoporphyria, Erythropoietic, 1 |
|
Hypertriglyceridemia |
OMIM:177000 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Clinodactyly of the 5th finger, Increased bone mineral density, Osteopetrosis, Micrognathia |
OMIM:617306 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Increased circulating ferritin concentration, Hypertriglyceridemia, Hyperbilirubinemia, Elevated ... |
ORPHA:158057 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Hypoglycemia, Elevated circulating creatine kinase concentration, Osteoporo... |
ORPHA:264580 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Increased bone mineral density, Micrognathia, High iliac wing, Osteopetrosis, Large iliac wing, F... |
ORPHA:2780 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... |
OMIM:267700 |
Craniometaphyseal Dysplasia |
|
Craniofacial hyperostosis, Abnormal metaphysis morphology, Osteopetrosis |
ORPHA:1522 |
Reni Syndrome |
|
Hypertriglyceridemia, Hypoalbuminemia, Hypoglycemia |
OMIM:617575 |
Atypical Werner Syndrome |
|
Sclerosis of hand bone, Micrognathia, Fasting hyperinsulinemia, Reduced bone mineral density, Fin... |
ORPHA:79474 |
H Syndrome |
|
Hallux valgus, Pes planus, Hypertriglyceridemia, Diabetes mellitus, Recurrent fractures, Lipodyst... |
ORPHA:168569 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:615863 |
Paget Disease Of Bone 3 |
|
Fractures of the long bones, Osteolysis, Patchy osteosclerosis |
OMIM:167250 |
Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
Macrophage Activation Syndrome |
|
Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Increased circulatin... |
ORPHA:158061 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Calcinosis, Aplasia/Hypoplasia of the clavicles, Abnormal fingertip morphology, Micrognathia, Hyp... |
ORPHA:90154 |
Fanconi Renotubular Syndrome 1 |
|
Osteomalacia, Rickets, Hypophosphatemia, Hypokalemia, Glycosuria |
OMIM:134600 |
Cockayne Syndrome Type 1 |
|
Foot joint contracture, Scarring, Tremor, Increased blood urea nitrogen, Enamel hypoplasia |
ORPHA:90321 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Osteopenia, Hypertriglyceridemia, Sandal gap, Elevated hemoglobin A1c, Joint stiffness, Micrognat... |
OMIM:619127 |
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly |
OMIM:228250 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Tremor, Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:274150 |
Majeed Syndrome |
|
Increased bone mineral density, Osteomyelitis, Flexion contracture, Synovitis, Increased suscepti... |
ORPHA:77297 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Patchy osteosclerosis, Micrognathia, Small hand, Short foot, Hyperphosphatemia, Hypocalcemia, Sho... |
OMIM:241410 |
Mesomelic Dysplasia, Savarirayan Type |
|
Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Hip dislocation, Hig... |
ORPHA:85170 |
Cleidocranial Dysplasia 1 |
|
Micrognathia, Absent frontal sinuses, Short middle phalanx of the 2nd finger, Coxa vara, Hypoplas... |
OMIM:119600 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:235400 |
Mody |
|
Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu... |
ORPHA:552 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612926 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612924 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Postprandial hyperglycemia, Hyperlipidemia, Ketotic hypoglycemia, Glycosuria |
ORPHA:2089 |
Camurati-Engelmann Disease |
|
Reduced subcutaneous adipose tissue, Increased bone mineral density, Diaphyseal sclerosis, Genu v... |
OMIM:131300 |
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Abnormal tibia morphology, Fibul... |
ORPHA:2634 |
Infantile Systemic Hyalinosis |
|
Osteopenia, Short palm, Recurrent fractures, Osteomalacia, Camptodactyly of finger, Joint stiffne... |
ORPHA:2176 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Hypokalemia, Rickets |
OMIM:602722 |
Short Syndrome |
|
Joint laxity, Enlarged epiphyses, Inguinal hernia, Lipodystrophy, Lipoatrophy, Micrognathia, Insu... |
OMIM:269880 |
Obesity Due To Congenital Leptin Deficiency |
|
Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Hyperinsulinemia |
ORPHA:66628 |
Blomstrand Lethal Chondrodysplasia |
|
Increased bone mineral density, Short metacarpal, Rhizomelia, Bowing of the long bones, Aplastic ... |
ORPHA:50945 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Micrognathia, Flexion contracture, Tibial bowing, Hypoplastic iliac wing, Small proximal tibial e... |
ORPHA:96334 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Finger syndactyly, Increased bone mineral density, Inguinal hernia, Femoral hernia, Abnormal dent... |
ORPHA:2658 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid... |
ORPHA:567548 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612925 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Increased skull ossification, Craniofacial osteosclerosis, Metaphyseal widening, Diaphyseal scler... |
OMIM:618476 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Hyperinsulinemia |
ORPHA:179494 |
Acromelic Frontonasal Dysostosis |
|
Tubulonodular pericallosal lipoma, Syndactyly, Preaxial polydactyly, Preaxial foot polydactyly, P... |
OMIM:603671 |
Ataxia With Vitamin E Deficiency |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Xanthelasma, Dystonia, Hypercholes... |
OMIM:277460 |
Apolipoprotein C-Ii Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating chylomicron concentration, Decr... |
OMIM:207750 |
Osteopetrosis, Autosomal Recessive 5 |
|
Increased bone mineral density, Micrognathia, Cranial hyperostosis, Flared metaphysis, Decreased ... |
OMIM:259720 |
Acromesomelic Dysplasia 3 |
|
Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st metacarpal, Widene... |
OMIM:609441 |
Uremic Pruritus |
|
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen |
ORPHA:94059 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hypoglycemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic ketoacidosis, Fasti... |
OMIM:262190 |
Poems Syndrome |
|
Sclerosis of hand bone, Diabetes mellitus, Lipodystrophy, Sclerosis of foot bone, Metaphyseal scl... |
ORPHA:2905 |
Beemer-Ertbruggen Syndrome |
|
Increased bone mineral density, Micrognathia |
ORPHA:1237 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Conjugated hyperbilirubinemia, Osteopenia, Rickets |
OMIM:211600 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal widening, Preaxial ... |
OMIM:613091 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Aplasia/Hypoplasia of the thumb, Short humerus, Absent radius, Ulnar bowing, Split hand, Mesomeli... |
OMIM:171480 |
Kenny-Caffey Syndrome, Type 2 |
|
Transient hypophosphatemia, Increased bone mineral density, Hyperphosphatemia, Hypocalcemia, Thic... |
OMIM:127000 |
Essential Fructosuria |
|
Hyperglycemia |
ORPHA:2056 |
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young |
OMIM:609812 |
12Q14 Microdeletion Syndrome |
|
Diabetes mellitus, Micrognathia, Tremor, Osteopoikilosis, Clinodactyly of the 5th finger |
ORPHA:94063 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Postaxial polydactyly, Micrognathia, Preaxial polydactyly, Hypoplastic pubic bone, Fibular hypopl... |
OMIM:617925 |
Osteofibrous Dysplasia, Susceptibility To |
|
Pathologic fracture, Pseudoarthrosis, Fibular hypoplasia |
OMIM:607278 |
Ophthalmomandibulomelic Dysplasia |
|
Radial bowing, Coxa valga, Ulnar deviated club hands, Lateral humeral condyle aplasia, Fibular hy... |
OMIM:164900 |
Paget Disease Of Bone 2, Early-Onset |
|
Bowing of the long bones, Short femur, Hypercalcemia, Fractures of the long bones, Osteolysis, In... |
OMIM:602080 |
Insulin-Resistance Syndrome Type B |
|
Abnormal circulating fatty-acid concentration, Osteoarthritis, Fasting hyperinsulinemia, Insulin ... |
ORPHA:2298 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Conjugated hyperbilirubinemia, Rickets, Steatorrhea, Hypocholesterolemia |
OMIM:607765 |
Sanjad-Sakati Syndrome |
|
Abnormal dental enamel morphology, Patchy osteosclerosis, Micrognathia, Small hand, Short foot, H... |
ORPHA:2323 |
Raine Syndrome |
|
Increased bone mineral density, Bowing of the long bones, Micromelia, Micrognathia, Subperiosteal... |
OMIM:259775 |
Tyrosinemia Type 1 |
|
Rickets of the lower limbs |
ORPHA:882 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Omphalocele, Abnormally ossified vertebrae, Radial bowing, Bowing of the long bones, Micrognathia... |
ORPHA:3035 |
Hereditary Renal Hypouricemia |
|
Hypouricemia, Increased blood urea nitrogen |
ORPHA:94088 |
Desmosterolosis |
|
Rhizomelia, Micrognathia, Generalized osteosclerosis, Abnormal circulating cholesterol concentrat... |
OMIM:602398 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Abnormal metacarpophalangeal joint morphology, Diabetes mellitus, Joint stiffness, Increased circ... |
ORPHA:465508 |
Pycnodysostosis |
|
Increased bone mineral density, Aplastic clavicle, Micrognathia, Absent frontal sinuses, Osteolyt... |
OMIM:265800 |
Thrombocytopenia-Absent Radius Syndrome |
|
Finger syndactyly, Tibial torsion, Micrognathia, Absent radius, Aplasia/hypoplasia of the humerus... |
ORPHA:3320 |
Bardet-Biedl Syndrome 9 |
|
Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Polyda... |
OMIM:615986 |
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Hyperglycemia |
OMIM:618970 |
Cholestasis-Lymphedema Syndrome |
|
Multiple lipomas, Hyperlipidemia, Reduced bone mineral density |
ORPHA:1414 |
Diabetes Mellitus, Permanent Neonatal, 3 |
|
Type I diabetes mellitus, Athetosis, Hyperglycemia, Glycosuria |
OMIM:618857 |
Orofaciodigital Syndrome Type 2 |
|
Finger syndactyly, Broad hallux, Micrognathia, Short tibia, Adactyly, Broad first metatarsal, Pos... |
ORPHA:2751 |
Cole Disease |
|
Punctate palmoplantar hyperkeratosis, Hyperglycemia, Palmoplantar keratoderma, Abnormal blood pho... |
OMIM:615522 |
Igg4-Related Retroperitoneal Fibrosis |
|
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... |
ORPHA:49041 |
Lysinuric Protein Intolerance |
|
Hyperalaninemia, Decreased HDL cholesterol concentration, Osteopenia, Hypertriglyceridemia, Hyper... |
ORPHA:470 |
Faciocardiomelic Dysplasia, Lethal |
|
Hypoplasia of the ulna, Radial deviation of the hand, Talipes, Micrognathia, Short thumb, Hypopla... |
OMIM:227270 |
Gaucher Disease Type 1 |
|
Osteopenia, Increased bone mineral density, Osteoarthritis, Osteolysis, Pedal edema, Pathologic f... |
ORPHA:77259 |
Gaisböck Syndrome |
|
Hypertriglyceridemia, Diabetes mellitus, Gout, Hyperproteinemia, Increased circulating renin leve... |
ORPHA:90041 |
Glycerol Kinase Deficiency |
|
Hypertriglyceridemia, Hypoglycemia, Hyperglycerolemia, Osteoporosis, Pathologic fracture |
OMIM:307030 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Osteopenia, Hypertriglyceridemia, Hypoglycemia, Hyperlipidemia, Osteoporosis, Gout, Increased sus... |
ORPHA:79259 |
Diabetes And Deafness, Maternally Inherited |
|
Hyperglycemia, Type II diabetes mellitus |
OMIM:520000 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hypokalemia, Rickets |
OMIM:611590 |
Cystinosis |
|
Type I diabetes mellitus, Hypokalemia, Rickets, Hypophosphatemia |
ORPHA:213 |
Microphthalmia With Limb Anomalies |
|
Toe syndactyly, Sandal gap, Capitate-hamate fusion, 2-3 toe cutaneous syndactyly, 4-5 metacarpal ... |
OMIM:206920 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased circulating cortisol level, Osteoporosis, Hyperglycemia |
OMIM:615954 |
Wilson Disease |
|
Decreased circulating ceruloplasmin concentration, Hypouricemia, Osteomalacia, Dystonia, Tremor, ... |
OMIM:277900 |
Desmosterolosis |
|
Increased bone mineral density, Talipes, Micromelia, Micrognathia, Metatarsus adductus, Osteopetr... |
ORPHA:35107 |
Familial Multiple Lipomatosis |
|
Bowing of the long bones, Lipodystrophy, Increased adipose tissue, Insulin resistance, Hyperlipid... |
ORPHA:199276 |
Cholesteryl Ester Storage Disease |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr... |
OMIM:278000 |
Familial Renal Glucosuria |
|
Elevated hemoglobin A1c, Insulin resistance, Glycosuria, Hyperglycemia, Abnormal oral glucose tol... |
ORPHA:69076 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Type I diabetes mellitus, Osteoporosis, Rickets |
OMIM:560000 |
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
|
Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Bilateral talipes ... |
OMIM:119800 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoalbuminemia... |
OMIM:603553 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Osteomalacia, Hypercalcemia, Hypermagnesemia, Multiple lipomas, Hypophosphatemia, Chondrocalcinosis |
OMIM:600740 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Aplasia/Hypoplasia of the clavicles, Hyperlipidemia, Flexion contracture, Limitation of joint mob... |
ORPHA:90153 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Hallux valgus, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypoplastic scapula... |
OMIM:256040 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Joint laxity, Hip contracture, Exaggerated startle response, Genu recurvatum, Overlapping toe, Fl... |
OMIM:617301 |
Eiken Syndrome |
|
Broad femoral neck, Delayed epiphyseal ossification, Flat acetabular roof, Fibular hypoplasia, Fl... |
OMIM:600002 |
Hypokalemic Periodic Paralysis |
|
Postprandial hyperglycemia, Episodic hypokalemia, Mildly elevated creatine kinase |
ORPHA:681 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Exaggerated startle response, Flexion contracture, Absent Achilles reflex, Ankle clonus, Pes cavus |
OMIM:609541 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Tremor, Microretrognathia, Hyperglycemia |
OMIM:619737 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:223900 |
Chylomicron Retention Disease |
|
Hypertriglyceridemia, Steatorrhea, Hypocholesterolemia |
ORPHA:71 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Osteopenia, Hypertriglyceridemia, Hypercalcemia, Craniosynostosis, Micrognathia, Upper limb under... |
ORPHA:369837 |
Trichothiodystrophy |
|
Osteopenia, Increased bone mineral density, Multiple joint contractures, Craniosynostosis, Hypopl... |
ORPHA:33364 |
Oncogenic Osteomalacia |
|
Abnormal pelvis bone morphology, Abnormality of the tarsal bones, Fibrous dysplasia of the bones,... |
ORPHA:352540 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:619313 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypophosphatemic rickets, Rickets, Hypercalcemia, Hypophosphatemia |
OMIM:612089 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia |
ORPHA:540 |
Osteogenesis Imperfecta, Type Viii |
|
Osteopenia, Joint laxity, Short metacarpal, Radial bowing, Inguinal hernia, Recurrent fractures, ... |
OMIM:610915 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Conjugated hyperbilirubinemia, Rickets, Abnormal serum bile acid concentration, Hyperbilirubinemi... |
ORPHA:79303 |
Hyperlipoproteinemia, Type Id |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr... |
OMIM:615947 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Preaxial hand polydactyly, Postaxial hand polydactyly, Disproportionate shortening of the tibia, ... |
OMIM:263520 |
Acheiropodia |
|
Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e... |
ORPHA:931 |
Congenital Analbuminemia |
|
Lipodystrophy, Hyperlipidemia, Pedal edema, Increased alpha-globulin, Hypoalbuminemia, Hyperchole... |
ORPHA:86816 |
Focal Segmental Glomerulosclerosis 1 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:603278 |
Immunodeficiency 97 With Autoinflammation |
|
Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:619802 |
Donohue Syndrome |
|
Adipose tissue loss, Hyperinsulinemia, Large hands, Fasting hypoglycemia, Postprandial hyperglyce... |
OMIM:246200 |
Mccune-Albright Syndrome |
|
Recurrent fractures, Osteomalacia, Primary hypercortisolism, Fibrous dysplasia of the bones, Abno... |
ORPHA:562 |
Gaucher Disease |
|
Osteopenia, Increased bone mineral density, Osteomyelitis, Recurrent fractures, Elevated circulat... |
ORPHA:355 |
Aromatase Deficiency |
|
Osteopenia, Hyperlipidemia, Delayed epiphyseal ossification, Osteoporosis, Insulin resistance, Ge... |
ORPHA:91 |
Lowe Oculocerebrorenal Syndrome |
|
Elevated circulating creatine kinase concentration, Elevated maternal serum alpha-fetoprotein, Os... |
OMIM:309000 |
Osteopetrosis, Autosomal Recessive 8 |
|
Osteopetrosis |
OMIM:615085 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:209902 |
Lipodystrophy, Familial Partial, Type 7 |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... |
OMIM:606721 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Micrognathia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia |
OMIM:618183 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Hyporeflexia of lower limbs, Exaggerated startle response, Multiple joint contractures, Pes cavus |
ORPHA:320406 |
Atelosteogenesis, Type I |
|
Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Vertebral hypoplasia, Short meta... |
OMIM:108720 |
Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response, Flexion contracture |
OMIM:618201 |
Celiac Disease, Susceptibility To, 1 |
|
Osteoporosis, Rickets, Hypocalcemia, Steatorrhea, Type I diabetes mellitus, Enamel hypoplasia |
OMIM:212750 |
Primary Fanconi Renotubular Syndrome |
|
Hypouricemia, Osteomalacia, Hypoglycemia, Bicarbonaturia, Hypophosphatemia, Increased susceptibil... |
ORPHA:3337 |
Hyperlipoproteinemia, Type I |
|
Hypercholesterolemia, Hyperlipidemia, Lactescent serum, Increased circulating chylomicron concent... |
OMIM:238600 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypercholesterolemia, Hypertriglyceridemia, Palmoplantar hyperhidrosis, Palmoplantar keratoderma |
OMIM:610644 |
Glycogen Storage Disease Ia |
|
Hypoglycemia, Hyperlipidemia, Osteoporosis, Gout, Xanthelasma, Hyperuricemia, Fasting hypoglycemia |
OMIM:232200 |
Fibrochondrogenesis 1 |
|
Omphalocele, Hypoplastic scapulae, Rhizomelia, Broad long bones, Dumbbell-shaped long bone, Hypop... |
OMIM:228520 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Microretrognathia, Hypertriglyceridemia, Hypoglycemia, Neonatal hypoglycemia, Joint hypermobility |
OMIM:619418 |
Omodysplasia 2 |
|
Short humerus, Micrognathia, Fibular hypoplasia, Limited elbow flexion/extension, Hypoplastic dis... |
OMIM:164745 |
Erdheim-Chester Disease |
|
Increased bone mineral density, Osteomyelitis, Osteolysis, Xanthelasma, Abnormal epiphysis morpho... |
ORPHA:35687 |
Acrofacial Dysostosis, RodrÃguez Type |
|
Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Radioulnar synostosi... |
ORPHA:1788 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Hyperglycemia, Hypoglycemia, Hyperammonemia |
OMIM:615453 |
Familial Chylomicronemia Syndrome |
|
Diabetes mellitus, Hyperlipidemia, Hypertriglyceridemia, Increased circulating chylomicron concen... |
ORPHA:444490 |
Neu-Laxova Syndrome |
|
Osteopenia, Osteomalacia, Micromelia, Micrognathia, Flexion contracture, Osteoporosis, Rickets, O... |
ORPHA:2671 |
Cholestasis-Lymphedema Syndrome |
|
Conjugated hyperbilirubinemia, Hyperlipidemia |
OMIM:214900 |
Autosomal Recessive Malignant Osteopetrosis |
|
Bowing of the long bones, Recurrent fractures, Craniosynostosis, Tremor, Reduced bone mineral den... |
ORPHA:667 |
Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, 11 pairs of ribs, Bowing of the long bones, Recurrent fractur... |
ORPHA:140 |
Craniosynostosis With Fibular Aplasia |
|
Craniosynostosis, Fibular aplasia |
OMIM:218550 |
Acro-Renal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Congenital diaphragmatic hernia,... |
ORPHA:958 |
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl... |
OMIM:113310 |
19P13.12 Microdeletion Syndrome |
|
Finger syndactyly, Toe clinodactyly, Sandal gap, Craniosynostosis, Hyperlipidemia, Deep plantar c... |
ORPHA:254346 |
Pyruvate Carboxylase Deficiency |
|
Hypoglutaminemia, Increased serum pyruvate, Hyperglutamatemia, Hypoglycemia, Tremor, Hyperammonem... |
ORPHA:3008 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Hypertriglyceridemia, Abnormal circulating creatine kinase concentration |
ORPHA:98907 |
Griscelli Syndrome Type 1 |
|
Hyperlipidemia |
ORPHA:79476 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Rickets, Recurrent fractures, Glycosuria |
OMIM:268315 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Dorsocervical fat pad, Paradoxical increased cortisol secretion on dexamethasone suppression test... |
ORPHA:189427 |
Methanol Poisoning |
|
Type I diabetes mellitus, Hyperlipidemia, Type II diabetes mellitus |
ORPHA:31825 |
Wiedemann-Rautenstrauch Syndrome |
|
Osteopenia, Tremor, Hypoplastic vertebral bodies, Loss of facial adipose tissue, Long toe, 2-3 to... |
ORPHA:3455 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Osteopenia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hyperlipidemia, Osteop... |
ORPHA:77293 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Osteopenia, Micromelia, Micrognathia, Abnormal finger morphology, Short palm, Large iliac wing, C... |
ORPHA:2636 |
Wiedemann-Rautenstrauch Syndrome |
|
Long toe, Short humerus, Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Short femur, ... |
OMIM:264090 |
Kyphomelic Dysplasia |
|
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Micrognat... |
OMIM:211350 |
Hyperoxaluria, Primary, Type I |
|
Hyperoxaluria, Increased bone mineral density, Pathologic fracture |
OMIM:259900 |
Fibular Dimelia-Diplopodia Syndrome |
|
Absent tibia |
ORPHA:1757 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Osteopetrosis |
OMIM:612840 |
Tibial Hemimelia |
|
Absent tibia |
OMIM:275220 |
Hyperekplexia 1 |
|
Umbilical hernia, Exaggerated startle response, Hip dislocation, Inguinal hernia |
OMIM:149400 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Conjugated hyperbilirubinemia, Early ossification of capital femoral epip... |
OMIM:208500 |
Acrorenal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Congenital diaphragmatic hernia, Mi... |
OMIM:200980 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Osteopetrosis |
OMIM:618541 |
Familial Hypocalciuric Hypercalcemia |
|
Renal hypophosphatemia, Osteomalacia, Hypercalcemia, Hypermagnesemia, Lipoma, Chondrocalcinosis, ... |
ORPHA:405 |
Plaa-Associated Neurodevelopmental Disorder |
|
Hyperextensibility of the finger joints, Exaggerated startle response, Edema of the dorsum of fee... |
ORPHA:521426 |
Isolated Sedoheptulokinase Deficiency |
|
Inguinal hernia, Flexion contracture, Hip dysplasia, Steatorrhea, Postprandial hyperglycemia, Art... |
ORPHA:440713 |
Pancreatic And Cerebellar Agenesis |
|
Reduced subcutaneous adipose tissue, Diabetes mellitus, Hypoglycemia, Joint stiffness, Flexion co... |
OMIM:609069 |
Orofaciodigital Syndrome X |
|
Preaxial hand polydactyly, Coalescence of tarsal bones, Hand oligodactyly, Fibular aplasia |
OMIM:165590 |
Tay-Sachs Disease |
|
Exaggerated startle response, Increased serum beta-hexosaminidase, Quadriceps muscle atrophy, Tre... |
ORPHA:845 |
Dend Syndrome |
|
Clinodactyly of the 4th finger, Hyperglycemia, Elevated hemoglobin A1c |
ORPHA:79134 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia, Lipoatrophy |
ORPHA:363618 |
Chédiak-Higashi Syndrome |
|
Hyponatremia, Hypertriglyceridemia, Tremor, Increased circulating ferritin concentration, Hypopro... |
ORPHA:167 |
Stiff Person Spectrum Disorder |
|
Exaggerated startle response, Diabetes mellitus |
ORPHA:3198 |
Osteopetrosis, Autosomal Recessive 7 |
|
Abnormal trabecular bone morphology, Femur fracture, Osteopetrosis, Hypocalcemic seizures |
OMIM:612301 |
Thrombocytopenia-Absent Radius Syndrome |
|
Edema of the dorsum of feet, Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodac... |
OMIM:274000 |
Beta-Ketothiolase Deficiency |
|
Hyperglycemia, Hypoglycemia, Hyperuricemia, Hyperammonemia |
ORPHA:134 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Osteopenia, Joint laxity, Inguinal hernia, Hypoglycemia, Rickets, Reduced bone mineral density, H... |
OMIM:613658 |
Gm1 Gangliosidosis Type 1 |
|
Exaggerated startle response, Hypoplastic vertebral bodies, Flared iliac wing, Short long bone, A... |
ORPHA:79255 |
Osteopetrosis, Autosomal Recessive 3 |
|
Osteopetrosis, Cranial hyperostosis, Diaphyseal sclerosis |
OMIM:259730 |
Williams Syndrome |
|
Osteopenia, Elevated circulating creatine kinase concentration, Micrognathia, Tremor, Clinodactyl... |
ORPHA:904 |
Combined Deficiency Of Factor V And Factor Viii |
|
Hyperlipidemia, Joint hemorrhage, Hyperuricemia |
ORPHA:35909 |
Glycogen Storage Disease Ib |
|
Hypoglycemia, Hyperlipidemia, Osteoporosis, Gout, Xanthelasma, Hyperuricemia |
OMIM:232220 |
Campomelic Dysplasia |
|
Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossification, Patellar hypoplasia, Femor... |
OMIM:114290 |
Hemophagocytic Syndrome Associated With An Infection |
|
Increased circulating ferritin concentration, Hyperproteinemia, Hypertriglyceridemia |
ORPHA:158048 |
Acromelic Frontonasal Dysplasia |
|
Midline central nervous system lipomas, Patellar hypoplasia, Talipes equinovarus, Preaxial foot p... |
ORPHA:1827 |
Infantile Nephropathic Cystinosis |
|
Rickets, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Glycosuria |
ORPHA:411629 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Exaggerated startle response |
OMIM:617028 |
Rabson-Mendenhall Syndrome |
|
Reduced subcutaneous adipose tissue, Impaired glucose tolerance, Insulin resistance, Fasting hype... |
ORPHA:769 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Calf muscle hypertrophy, Exaggerated startle response, Flexion contracture, Elevated circulating ... |
OMIM:253800 |
Leukodystrophy, Hypomyelinating, 13 |
|
Joint contracture, Exaggerated startle response |
OMIM:616881 |
Nephrotic Syndrome, Type 1 |
|
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:256300 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet... |
OMIM:608643 |
Neutral Lipid Storage Myopathy |
|
Diabetes mellitus, Hypertriglyceridemia, Abnormal circulating creatine kinase concentration |
ORPHA:98908 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Ankle clonus, Exaggerated startle response, Overlapping toe |
OMIM:618598 |
Stiff-Person Syndrome |
|
Exaggerated startle response, Diabetes mellitus, Opisthotonus |
OMIM:184850 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Aplasia/hypoplasia of the extremities, Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasia of t... |
OMIM:276820 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hypoammonemia, Micrognathia, Hyponatremia, Osteomalacia, Abnormal dental enamel morphology, Joint... |
ORPHA:534 |
Cranioectodermal Dysplasia 1 |
|
Joint laxity, Broad toe, Brachydactyly, Short humerus, Rhizomelia, Inguinal hernia, Sagittal cran... |
OMIM:218330 |
Cystinosis, Nephropathic |
|
Hyponatremia, Diabetes mellitus, Metaphyseal widening, Rickets, Reduced blood urea nitrogen, Hypo... |
OMIM:219800 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Increased density of long bones, Wide distal femoral metaphysis, Postaxial hand polydactyly, Apla... |
OMIM:269150 |
Phocomelia, Schinzel Type |
|
Bowing of the long bones, Radial bowing, Talipes, Micromelia, Micrognathia, Aplasia of the ulna, ... |
ORPHA:2879 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Tremor, Exaggerated startle response, Limb joint contracture |
OMIM:620327 |
Lysosomal Acid Lipase Deficiency |
|
Hyponatremia, Hypertriglyceridemia, Hyperkalemia, Xanthelasma, Steatorrhea, Hypercholesterolemia |
ORPHA:275761 |
Necrotizing Enterocolitis |
|
Hyponatremia, Hyperglycemia, Abnormal glucose homeostasis |
ORPHA:391673 |
Hyperekplexia 2 |
|
Exaggerated startle response, Hiatus hernia |
OMIM:614619 |
Hyperekplexia 3 |
|
Exaggerated startle response, Hiatus hernia |
OMIM:614618 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hypercholesterolemia, Hyperglycemia |
ORPHA:90065 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Decreased serum iron, Increased blood urea nitrogen, Unconjugated hyperbilirubinemia, Glycosuria,... |
ORPHA:447 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response, Rocker bottom foot, Postaxial polydactyly, Micrognathia, Long finge... |
OMIM:617527 |
Gaucher Disease Type 3 |
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Increased bone mineral density, Osteolysis, Increased susceptibility to fractures |
ORPHA:77261 |
Pancreatic Triacylglycerol Lipase Deficiency |
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Osteoporosis, Osteomalacia, Steatorrhea, Rickets |
ORPHA:309031 |
Sclerosteosis 1 |
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Syndactyly, Sclerotic scapulae, 2-3 finger syndactyly, Facial palsy secondary to cranial hyperost... |
OMIM:269500 |
Carnitine Palmitoyltransferase Ii Deficiency |
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Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... |
ORPHA:157 |
Schneckenbecken Dysplasia |
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Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas... |
ORPHA:3144 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
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Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... |
ORPHA:228308 |
Otopalatodigital Syndrome, Type Ii |
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Congenital hip dislocation, Elbow contracture, Micrognathia, Short metatarsal, Femoral bowing, Ti... |
OMIM:304120 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
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Rickets |
OMIM:219900 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
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Tremor, Exaggerated startle response, Clinodactyly of the 5th finger, Truncal titubation |
OMIM:618056 |
Hyperekplexia-Epilepsy Syndrome |
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Exaggerated startle response |
ORPHA:163985 |
Distal Renal Tubular Acidosis |
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Osteomalacia, Rickets, Increased susceptibility to fractures, Reduced bone mineral density, Hypok... |
ORPHA:18 |
Hydrolethalus Syndrome 1 |
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Omphalocele, Micrognathia, Preaxial hand polydactyly, Postaxial hand polydactyly, Duplication of ... |
OMIM:236680 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
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Joint contracture, Exaggerated startle response |
OMIM:617864 |
Mitchell-Riley Syndrome |
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Hyperglycemia, Diabetes mellitus, Hyperbilirubinemia |
OMIM:615710 |
Primary Hyperoxaluria |
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Hyperoxaluria, Recurrent fractures, Generalized osteosclerosis |
ORPHA:416 |
Tangier Disease |
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Hypertriglyceridemia, Hypocholesterolemia |
ORPHA:31150 |
Alagille Syndrome 1 |
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Hypercholesterolemia, Hypertriglyceridemia, Short distal phalanx of finger, Hypoplasia of the ulna |
OMIM:118450 |
Osteopathia Striata With Cranial Sclerosis |
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Omphalocele, Paranasal sinus hypoplasia, Arachnodactyly, Micrognathia, Craniofacial osteosclerosi... |
OMIM:300373 |
Gm2 Gangliosidosis, Ab Variant |
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Exaggerated startle response, Dystonia |
ORPHA:309246 |
Asparagine Synthetase Deficiency |
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Exaggerated startle response, Micrognathia, Tremor, Large hands, Long foot, Hypoasparaginemia |
OMIM:615574 |
Aapoaiv Amyloidosis |
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Hyperlipidemia, Diabetes mellitus, Elevated circulating creatinine concentration |
ORPHA:439232 |
Developmental And Epileptic Encephalopathy 8 |
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Exaggerated startle response |
OMIM:300607 |
Griscelli Syndrome Type 2 |
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Hyperlipidemia |
ORPHA:79477 |
Immunodeficiency 87 And Autoimmunity |
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Hypokalemia, Hypertriglyceridemia, Elevated circulating C-reactive protein concentration |
OMIM:619573 |
Osteopetrosis With Renal Tubular Acidosis |
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Recurrent fractures, Elevated circulating creatine kinase concentration, Micrognathia, Osteopetro... |
ORPHA:2785 |
Leprechaunism |
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Reduced subcutaneous adipose tissue, Insulin resistance, Hyperinsulinemia, Large hands, Hypokalem... |
ORPHA:508 |
Woodhouse-Sakati Syndrome |
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Osteopenia, Insulin-resistant diabetes mellitus, Hyperlipidemia, Hyperinsulinemia, Choreoathetosi... |
ORPHA:3464 |
Glycogen Storage Disease Ic |
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Hypoglycemia, Hyperlipidemia, Gout, Xanthelasma, Hyperuricemia |
OMIM:232240 |
Thyrotoxic Periodic Paralysis |
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Episodic hypokalemia, Transient hypophosphatemia, Tremor, Hyperkalemia, Hypomagnesemia, Postprand... |
ORPHA:79102 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
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Exaggerated startle response |
OMIM:620114 |
Gm2-Gangliosidosis, Ab Variant |
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Exaggerated startle response, Dystonia |
OMIM:272750 |
Kinsship Syndrome |
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Osteopenia, Pes planus, Micrognathia, Coxa valga, Hip dislocation, Fibular hypoplasia, Polydactyl... |
OMIM:619297 |
Tay-Sachs Disease |
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Exaggerated startle response |
OMIM:272800 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
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Exaggerated startle response |
OMIM:608800 |
Sandhoff Disease, Infantile Form |
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Exaggerated startle response |
ORPHA:309155 |
Isolated Permanent Neonatal Diabetes Mellitus |
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Neonatal insulin-dependent diabetes mellitus, Lower-limb joint contracture, Glycosuria, Arthrogry... |
ORPHA:99885 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
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Exaggerated startle response, Dystonia |
ORPHA:438216 |
Scorpion Envenomation |
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Increased circulating NT-proBNP concentration, Tremor, Glycosuria, Hypokalemia, Increased circula... |
ORPHA:466677 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
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Micrognathia, Small hand, Fibular hypoplasia, Hypoplasia of proximal radius, Tracheomalacia, Cerv... |
ORPHA:444077 |
Orofaciodigital Syndrome Type 4 |
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Finger syndactyly, Camptodactyly of finger, Micromelia, Micrognathia, Preaxial hand polydactyly, ... |
ORPHA:2753 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
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Abnormality of the calf musculature, Hyperlipidemia, Diabetes mellitus, Elevated circulating crea... |
ORPHA:565612 |
Charge Syndrome |
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Omphalocele, Hypoplasia of the ulna, Down-sloping shoulders, Micrognathia, Absent radius, Short t... |
OMIM:214800 |
Immunodeficiency 82 With Systemic Inflammation |
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Osteomyelitis, Osteomalacia, Elevated circulating C-reactive protein concentration, Arthritis, Hy... |
OMIM:619381 |
Goodpasture Syndrome |
|
Increased blood urea nitrogen |
OMIM:233450 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
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Inguinal hernia, Hypoglycemia, Micrognathia, Tremor, Hyperammonemia, Dystonia, Hyperglycemia |
OMIM:220111 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
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Short humerus, Exaggerated startle response, Short femur, Tapered finger |
OMIM:618367 |
Sandhoff Disease |
|
Exaggerated startle response |
OMIM:268800 |
Developmental And Epileptic Encephalopathy 49 |
|
Exaggerated startle response |
OMIM:617281 |
Fabry Disease |
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Hyperlipidemia, Abnormal femur morphology, Reduced bone mineral density, Arthritis, Abnormal circ... |
ORPHA:324 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
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Osteopenia, Joint laxity, Exaggerated startle response, Decreased serum iron, Osteoporosis, Hip d... |
ORPHA:438213 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Hyperlipidemia, Hypoalbuminemia, Pedal edema |
ORPHA:567546 |
Woodhouse-Sakati Syndrome |
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Choreoathetosis, Hyperlipidemia, Diabetes mellitus, Dystonia |
OMIM:241080 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
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Hyponatremia, Hyperlipidemia, Hyperkalemia, Hyperglycemia, Brachydactyly |
ORPHA:293987 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
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Hypertyrosinemia, Recurrent hypoglycemia, Hypoglycemia, Hyperglycemia |
OMIM:124000 |
Parenteral Nutrition-Associated Cholestasis |
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Conjugated hyperbilirubinemia, Hyperlipidemia, Abnormal circulating fatty-acid concentration |
ORPHA:567983 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
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Broad toe, Exaggerated startle response, Tapered finger, Short thumb, Short foot, Short 5th finge... |
OMIM:619522 |
Heart Defects, Congenital, And Other Congenital Anomalies |
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Inguinal hernia, Diabetes mellitus, Congenital diaphragmatic hernia, Aplasia of the left hemidiap... |
OMIM:600001 |
Generalized Arterial Calcification Of Infancy |
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Abnormality of the knee, Osteomalacia, Stippled calcification of the shoulder, Abnormal calcifica... |
ORPHA:51608 |
Alström Syndrome |
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Pes planus, Hypertriglyceridemia, Dorsocervical fat pad, Hyperlipidemia, Short toe, Insulin resis... |
ORPHA:64 |
Homozygous Familial Hypercholesterolemia |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia |
ORPHA:391665 |