Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
Atherosclerosis Susceptibility |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:108725 |
Retinal Dysplasia, Primary |
|
Falciform retinal fold, Retinal dysplasia |
OMIM:312550 |
Fish-Eye Disease |
|
Increased LDL cholesterol concentration, Increased VLDL cholesterol concentration, Decreased HDL ... |
OMIM:136120 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Hyperlipoproteinemia, Hypercholesterolemia, Hypotriglyceridemia, Increased HDL ch... |
ORPHA:79506 |
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Increased LDL cholesterol concentration, Gait disturbance, Hypertriglyceridemia, Elevated circula... |
OMIM:616516 |
Glycogen Storage Disease Vi |
|
Hypercholesterolemia, Hypertriglyceridemia, Hyperlipidemia |
OMIM:232700 |
Glycogen Storage Disease Ixa1 |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:306000 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:144300 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hyperactivity, Dystonia, Ataxia, Hypertriglyceridemia |
OMIM:615924 |
Hypophosphatemia, Renal, With Intracerebral Calcifications |
|
Renal hypophosphatemia |
OMIM:241519 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypertriglyceridemia |
ORPHA:366 |
Niemann-Pick Disease, Type B |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... |
OMIM:607616 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Retinal detachment, Hypertriglyceridemia |
ORPHA:436182 |
Hypercholesterolemia, Familial, 4 |
|
Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia |
OMIM:603813 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Hypercholesterolemia, Hypertriglyceridemia, Hyperlipidemia |
OMIM:610947 |
Hypoparathyroidism, Familial Isolated, 2 |
|
Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia |
OMIM:618883 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemia, Hypophosphatemic rickets |
OMIM:241520 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hypertriglyceridemia |
OMIM:619175 |
Pseudohypoparathyroidism Type 2 |
|
Hypocalcemic tetany, Hypocalcemic seizures, Laryngeal dystonia, Hypocalcemia, Hyperphosphatemia |
ORPHA:94090 |
Hyperlipoproteinemia, Type Iv |
|
Increased VLDL cholesterol concentration, Hypertriglyceridemia |
OMIM:144600 |
Hypertriglyceridemia 1 |
|
Increased VLDL cholesterol concentration, Hypertriglyceridemia |
OMIM:145750 |
Vitamin D-Dependent Rickets, Type 3 |
|
Hypophosphatemia, Hypocalcemia |
OMIM:619073 |
Morbid Obesity And Spermatogenic Failure |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypercholestero... |
OMIM:615703 |
Retinoschisis 1, X-Linked, Juvenile |
|
Macular atrophy, Retinal degeneration, Mizuo phenomenon, Retinal pigment epithelial atrophy, Reti... |
OMIM:312700 |
Lipodystrophy, Familial Partial, Type 5 |
|
Abnormal circulating lipid concentration, Hypertriglyceridemia |
OMIM:615238 |
Hypercalcemia, Infantile, 2 |
|
Hypercalcemia, Hypophosphatemia |
OMIM:616963 |
Ataxia With Vitamin E Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Xanthelasma, Ataxia, Hypertriglyce... |
OMIM:277460 |
Pseudohypoparathyroidism, Type Ii |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:203330 |
Neutral Lipid Storage Disease With Myopathy |
|
Elevated circulating creatine kinase concentration, Difficulty walking, Hypertriglyceridemia |
OMIM:610717 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Decreased HDL cholesterol concentration, Hyperbilirubinemia, Hypercholesterolemia, Hypertriglycer... |
OMIM:605814 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Hypertriglyceridemia |
OMIM:618010 |
Linear Verrucous Nevus Syndrome |
|
Aplasia/Hypoplasia of the fovea, Hypophosphatemia, Retinopathy |
ORPHA:2611 |
Lipodystrophy, Familial Partial, Type 7 |
|
Dysmetria, Hypercholesterolemia, Hypertriglyceridemia, Pigmentary retinopathy, Gait ataxia |
OMIM:606721 |
Lipase Deficiency, Combined |
|
Hypertriglyceridemia |
OMIM:246650 |
Hypophosphatemic Bone Disease |
|
Hypophosphatemia |
OMIM:146350 |
Exudative Vitreoretinopathy 3 |
|
Retinal fold, Exudative vitreoretinopathy, Retinal hole, Retinal exudate, Retinal detachment |
OMIM:605750 |
Hypophosphatemic Rickets, Autosomal Dominant |
|
Hypophosphatemia, Hypophosphatemic rickets |
OMIM:193100 |
Hypertriglyceridemia, Transient Infantile |
|
Hypertriglyceridemia |
OMIM:614480 |
Familial Drusen |
|
Hypoautofluorescent macular lesion, Macular atrophy, Abnormality of retinal pigmentation, Macular... |
ORPHA:75376 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:245900 |
Lipodystrophy, Familial Partial, Type 4 |
|
Hypertriglyceridemia |
OMIM:613877 |
Hypobetalipoproteinemia, Familial, 1 |
|
Decreased LDL cholesterol concentration, Ataxia, Retinal degeneration, Rod-cone dystrophy |
OMIM:615558 |
Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hypertriglyceridemia |
OMIM:608898 |
Dent Disease 2 |
|
Elevated circulating creatine kinase concentration, Hypophosphatemia |
OMIM:300555 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hypomagnesemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia |
ORPHA:2239 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Waddling gait, Hypophosphatemia, Hypophosphatemic rickets, Increased circulating beta-C-terminal ... |
ORPHA:157215 |
Cystinosis |
|
Gait disturbance, Hypophosphatemia, Retinopathy, Hypokalemia |
ORPHA:213 |
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency |
|
Hypertriglyceridemia, Increased HDL cholesterol concentration |
ORPHA:140905 |
Apolipoprotein C-Ii Deficiency |
|
Lipemia retinalis, Hypercholesterolemia, Hypertriglyceridemia, Decreased circulating apolipoprote... |
OMIM:207750 |
Familial Isolated Hyperparathyroidism |
|
Hypercalcemia, Infantile hypercalcemia, Hypophosphatemia |
ORPHA:99879 |
Fanconi Renotubular Syndrome 5 |
|
Hypophosphatemia, Hypophosphatemic rickets |
OMIM:618913 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypercholesterolemia, Hypertriglyceridemia, Hypocalcemia |
OMIM:612526 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Hypophosphatemia |
OMIM:612287 |
Fanconi Renotubular Syndrome 2 |
|
Hypophosphatemia |
OMIM:613388 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:146200 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertriglyceridemia |
ORPHA:71529 |
Hyperlipidemia, Familial Combined, 3 |
|
Hyperlipidemia, Increased LDL cholesterol concentration, Increased VLDL cholesterol concentration... |
OMIM:144250 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Retinal degeneration, Hydroxyprolinemia, Hyperuricemia, Retinopathy, Hyperphosphatemia, Macular s... |
OMIM:239000 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Hypophosphatemia |
OMIM:612286 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypercalcemia, Hypophosphatemia, Hypophosphatemic rickets |
OMIM:612089 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hyperactivity, Ataxia, Hypertriglyceridemia, Gait ataxia, Limb dystonia |
ORPHA:363400 |
Pseudohypoparathyroidism, Type Ib |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:603233 |
Fanconi Renotubular Syndrome 1 |
|
Hypophosphatemia, Hypokalemia |
OMIM:134600 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Hypophosphatemia, Hypocalcemia |
ORPHA:89937 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Hypophosphatemia |
OMIM:308990 |
Cholesteryl Ester Storage Disease |
|
Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:75234 |
Glycerol Kinase Deficiency |
|
Hypertriglyceridemia, Lethargy |
OMIM:307030 |
Malignant Hyperthermia, Susceptibility To, 2 |
|
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration |
OMIM:154275 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:603552 |
Temple Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:616222 |
Smith-Magenis Syndrome |
|
Hypercholesterolemia, Hyperactivity, Retinal detachment, Hypertriglyceridemia |
OMIM:182290 |
Refractory Celiac Disease |
|
Hypoproteinemia, Hypoalbuminemia, Hypophosphatemia, Hypomagnesemia, Hypocalcemia |
ORPHA:398063 |
Griscelli Syndrome Type 1 |
|
Ataxia, Retinopathy, Hyperlipidemia |
ORPHA:79476 |
Malignant Hyperthermia, Susceptibility To, 3 |
|
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration |
OMIM:154276 |
Hypocalcemia, Autosomal Dominant 1 |
|
Hypokalemia, Hypomagnesemia, Hypocalcemia, Increased circulating renin level, Hyperphosphatemia |
OMIM:601198 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Gait disturbance, Hypophosphatemia, Hypocalcemia |
ORPHA:93160 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Hypophosphatemia, Difficulty walking |
OMIM:600081 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Hypophosphatemia, Difficulty walking, Hypophosphatemic rickets |
OMIM:241530 |
Hyperphosphatemia, Polyuria, And Seizures |
|
Hyperphosphatemia |
OMIM:239350 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:613101 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia |
ORPHA:280356 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:300635 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration |
OMIM:145600 |
Protoporphyria, Erythropoietic, 1 |
|
Hypertriglyceridemia |
OMIM:177000 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Hypophosphatemia, Difficulty walking, Hypocalcemic seizures |
OMIM:264700 |
Fanconi-Bickel Syndrome |
|
Hypouricemia, Hypophosphatemia, Hypokalemia |
OMIM:227810 |
Colchicine Poisoning |
|
Hyponatremia, Hypokalemia, Hypophosphatemia, Hypomagnesemia, Hypocalcemia, Abnormal blood ion con... |
ORPHA:31824 |
Vitamin D-Dependent Rickets, Type 2A |
|
Hypophosphatemia, Difficulty walking, Hypocalcemic seizures |
OMIM:277440 |
Oncogenic Osteomalacia |
|
Gait disturbance, Hypophosphatemia, Hypocalcemia |
ORPHA:352540 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Hypercalcemia, Waddling gait, Hypophosphatemia |
OMIM:156400 |
Kenny-Caffey Syndrome, Type 2 |
|
Retinal calcification, Papilledema, Hypocalcemia, Transient hypophosphatemia, Hyperphosphatemia |
OMIM:127000 |
Citrullinemia Type Ii |
|
Hypoproteinemia, Decreased HDL cholesterol concentration, Hyperlipidemia, Hypercholesterolemia, A... |
ORPHA:247585 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:615863 |
Uremic Pruritus |
|
Hypermagnesemia, Hypercalcemia, Increased blood urea nitrogen, Renal hypophosphatemia |
ORPHA:94059 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Hypophosphatemia, Hypophosphatemic rickets |
OMIM:307800 |
Autoimmune Hypoparathyroidism |
|
Hypocalcemic tetany, Hypocalcemic seizures, Laryngeal dystonia, Hypocalcemia, Hyperphosphatemia |
ORPHA:36913 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Hypoproteinemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol... |
OMIM:267700 |
Hereditary Fructose Intolerance |
|
Hypermagnesemia, Lethargy, Hypophosphatemia, Hyperuricemia |
ORPHA:469 |
Lipodystrophy, Familial Partial, Type 1 |
|
Hypertriglyceridemia |
OMIM:608600 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Hypophosphatemia, Difficulty walking, Hypocalcemic seizures, Hypocalcemia |
ORPHA:289157 |
Fanconi-Bickel Syndrome |
|
Hypophosphatemia, Hypertriglyceridemia |
ORPHA:2088 |
Blue Diaper Syndrome |
|
Hypercalcemia, Hyperphosphatemia |
ORPHA:94086 |
Hyperlipoproteinemia, Type I |
|
Hyperlipidemia, Lipemia retinalis, Lactescent serum, Hypercholesterolemia, Increased circulating ... |
OMIM:238600 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... |
OMIM:618620 |
Lcat Deficiency |
|
Decreased circulating apolipoprotein AI concentration, Decreased HDL cholesterol concentration, H... |
ORPHA:650 |
Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Hypophosphatemia, Hypophosphatemic rickets |
OMIM:300554 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypermagnesemia, Hypercalcemia, Hypophosphatemia |
OMIM:600740 |
Citrullinemia, Type Ii, Adult-Onset |
|
Hyperargininemia, Elevated plasma citrulline, Hypertriglyceridemia, Hyperammonemia |
OMIM:603471 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Gait disturbance, Increased LDL cholesterol concentration, Elevated circulating creatine kinase c... |
ORPHA:98855 |
Hyperparathyroidism, Neonatal Severe |
|
Hypercalcemia, Calcinosis, Hypophosphatemia |
OMIM:239200 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Gait disturbance, Mildly elevated creatine kinase, Hyperlipidemia |
OMIM:604484 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Hyperlipidemia |
ORPHA:79085 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Calcinosis, Hyperphosphatemia, Angioid streaks of the fundus |
OMIM:211900 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypertriglyceridemia, Hypoalbuminemia |
OMIM:619013 |
Nephrotic Syndrome, Type 14 |
|
Ataxia, Hypertriglyceridemia, Hypoalbuminemia |
OMIM:617575 |
Pseudohypoparathyroidism Type 1B |
|
Hypocalcemic tetany, Hypocalcemic seizures, Laryngeal dystonia, Hypocalcemia, Hyperphosphatemia |
ORPHA:94089 |
Infantile Nephropathic Cystinosis |
|
Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Pigmentary retinopathy |
ORPHA:411629 |
Lipodystrophy, Familial Partial, Type 3 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hyperuricemia |
OMIM:604367 |
Focal Segmental Glomerulosclerosis 1 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:603278 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Gait disturbance, Increased LDL cholesterol concentration, Elevated circulating creatine kinase c... |
ORPHA:98863 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Gait disturbance, Increased LDL cholesterol concentration, Elevated circulating creatine kinase c... |
ORPHA:98853 |
Emery-Dreifuss Muscular Dystrophy |
|
Gait disturbance, Increased LDL cholesterol concentration, Elevated circulating creatine kinase c... |
ORPHA:261 |
Smith-Magenis Syndrome |
|
Gait disturbance, Hypercholesterolemia, Retinal detachment, Hypertriglyceridemia, Attention defic... |
ORPHA:819 |
Hyperphosphatasia With Mental Retardation Syndrome 3 |
|
Hyperphosphatemia |
OMIM:614207 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... |
ORPHA:158057 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Abnormal circulating lipid concentration, Hypercholesterolemia, Hypertriglyceridemia, Hypoalbumin... |
ORPHA:567548 |
Genetic Recurrent Myoglobinuria |
|
Hyperkalemia, Highly elevated creatine kinase, Hyperphosphatemia, Hypocalcemia, Difficulty walking |
ORPHA:99845 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Abnormal circulating glutamine concentration, Abnormal circulating serine concentration, Abnormal... |
ORPHA:247598 |
Fibrous Dysplasia Of Bone |
|
Hypercalcemia, Increased circulating cortisol level, Hypophosphatemia, Antalgic gait, Difficulty ... |
ORPHA:249 |
Cidec-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Hyperlipidemia |
ORPHA:435651 |
Juvenile Nephropathic Cystinosis |
|
Hypouricemia, Hyponatremia, Hypocalcemic tetany, Hypokalemia, Elevated circulating creatinine con... |
ORPHA:411634 |
Opsismodysplasia |
|
Hypophosphatemia |
OMIM:258480 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:618398 |
Lipe-Related Familial Partial Lipodystrophy |
|
Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Hyperlipidemia |
ORPHA:435660 |
Dent Disease 1 |
|
Hypophosphatemia |
OMIM:300009 |
Primary Fanconi Renotubular Syndrome |
|
Hypouricemia, Hypokalemia, Hypophosphatemia, Hyperuricosuria, Decreased plasma carnitine, Bicarbo... |
ORPHA:3337 |
Alport Syndrome 3, Autosomal Dominant |
|
Azotemia, Hypophosphatemia |
OMIM:104200 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Hypercalcemia, Hyperphosphatemia |
OMIM:617994 |
Calciphylaxis |
|
Hyperphosphatemia |
ORPHA:280062 |
Familial Hypocalciuric Hypercalcemia |
|
Hypercalcemia, Hypocalcemic seizures, Infantile hypercalcemia, Renal hypophosphatemia, Hypermagne... |
ORPHA:405 |
Fructose Intolerance, Hereditary |
|
Hypophosphatemia, Hyperbilirubinemia, Hyperuricemia, Hyperuricosuria, Bicarbonaturia, Lethargy |
OMIM:229600 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hypoproteinemia, Increased total bilirubin, Increased circulating ferritin concentr... |
OMIM:603553 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypoalbuminemia, Hypomagnesemia, Hypertriglyceridemia, Hypocalcemia |
OMIM:618183 |
Pearson Syndrome |
|
Hypokalemia, Hypophosphatemia, Hypocalcemia, Hyperalaninemia, Hypomagnesemia, Ataxia, Steatorrhea... |
ORPHA:699 |
Mccune-Albright Syndrome |
|
Primary hypercortisolism, Increased circulating cortisol level, Hypophosphatemia |
ORPHA:562 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia |
OMIM:241410 |
Autosomal Dominant Hypocalcemia |
|
Optic atrophy, Writer's cramp, Hypomagnesemia, Hypocalcemia, Hyperphosphatemia |
ORPHA:428 |
Congenital Generalized Lipodystrophy |
|
Hypercholesterolemia, Increased C-peptide level, Hypertriglyceridemia |
ORPHA:528 |
Alstrom Syndrome |
|
Decreased HDL cholesterol concentration, Hyperuricemia, Hypertriglyceridemia, Pigmentary retinopa... |
OMIM:203800 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:209902 |
Macrophage Activation Syndrome |
|
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... |
ORPHA:158061 |
Pseudohypoparathyroidism, Type Ic |
|
Hypocalcemic tetany, Hyperphosphatemia |
OMIM:612462 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Hypertriglyceridemia |
OMIM:615381 |
Lysosomal Acid Lipase Deficiency |
|
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Hypercholestero... |
OMIM:278000 |
Raine Syndrome |
|
Hypophosphatemia |
OMIM:259775 |
Body Mass Index Quantitative Trait Locus 19 |
|
Hyperlipidemia |
OMIM:617885 |
Glycogen Storage Disease Ixc |
|
Hypertriglyceridemia |
OMIM:613027 |
Pseudohypoparathyroidism, Type Ia |
|
Hypocalcemic tetany, Hyperphosphatemia |
OMIM:103580 |
Dysbetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Hypercholestero... |
ORPHA:412 |
Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyponatremia, Hypokalemia, Chorioretinal dysplasia, Hypophosphatemia, Hypercholesterolemia, Hyper... |
ORPHA:534 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hyperlipidemia, Hyperuricemia |
ORPHA:364 |
Familial Chylomicronemia Syndrome |
|
Hyperlipidemia, Hypertriglyceridemia, Lipemia retinalis, Increased circulating chylomicron concen... |
ORPHA:444490 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Ataxia, Abnormal circulating creatine kinase concentration, Difficulty walking, Hypertriglyceridemia |
ORPHA:98907 |
Thyrotoxic Periodic Paralysis |
|
Hyperkalemia, Episodic hypokalemia, Mildly elevated creatine kinase, Hypomagnesemia, Transient hy... |
ORPHA:79102 |
Mandibuloacral Dysplasia |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating free fatty acid level |
ORPHA:2457 |
Cholestasis-Lymphedema Syndrome |
|
Conjugated hyperbilirubinemia, Hyperlipidemia |
OMIM:214900 |
Pparg-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Hyperuricemia |
ORPHA:79083 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Hyperlipidemia, Lethargy |
ORPHA:2089 |
Neuroleptic Malignant Syndrome |
|
Hyperkalemia, Hyponatremia, Hypernatremia, Elevated circulating creatine kinase concentration, Hy... |
ORPHA:94093 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Hypertriglyceridemia |
ORPHA:2348 |
Glycogen Storage Disease Iii |
|
Elevated circulating creatine kinase concentration, Hyperlipidemia |
OMIM:232400 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:619313 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Hypercalcemia, Infantile hypercalcemia, Hypophosphatemia |
ORPHA:99880 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypertriglyceridemia |
ORPHA:66628 |
Parathyroid Carcinoma |
|
Hypercalcemia, Infantile hypercalcemia, Hypophosphatemia |
ORPHA:143 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia |
ORPHA:540 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypertriglyceridemia |
ORPHA:179494 |
Chédiak-Higashi Syndrome |
|
Hypoproteinemia, Abnormality of retinal pigmentation, Hyponatremia, Gait disturbance, Increased c... |
ORPHA:167 |
Autosomal Recessive Malignant Osteopetrosis |
|
Optic nerve compression, Hypophosphatemia, Hypocalcemia |
ORPHA:667 |
Sanjad-Sakati Syndrome |
|
Hyperphosphatemia, Hypocalcemia |
ORPHA:2323 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Retinal calcification, Hypocalcemic tetany, Hypocalcemic seizures, Papilledema, Hyperphosphatemia |
ORPHA:93325 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Elevated circulating creatine kinase concentration, Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:79240 |
Dent Disease |
|
Elevated circulating creatine kinase concentration, Renal hypophosphatemia, Hyperuricosuria |
ORPHA:1652 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Elevated circulating creatine kinase concentration, Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:370 |
Lysinuric Protein Intolerance |
|
Abnormal circulating serine concentration, Decreased HDL cholesterol concentration, Increased LDL... |
ORPHA:470 |
Xp21 Deletion Syndrome |
|
Elevated circulating creatine kinase concentration, Hypertriglyceridemia |
ORPHA:261476 |
Pseudohypoparathyroidism Type 1C |
|
Calcinosis, Hypocalcemic tetany, Hypocalcemic seizures, Laryngeal dystonia, Hypocalcemia, Hyperph... |
ORPHA:79444 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:610644 |
Seckel Syndrome 10 |
|
Retinal detachment, Elevated hemoglobin A1c, Hypertriglyceridemia |
OMIM:617253 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Elevated circulating creatine kinase concentration, Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:264580 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Elevated circulating creatine kinase concentration, Hypertriglyceridemia |
OMIM:613327 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Renal hypophosphatemia, Hypophosphatemic rickets |
ORPHA:289176 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Decreased HDL cholesterol concentration, Hyperlipidemia, Cherry red spot of the macula, Increased... |
ORPHA:77293 |
Hemophagocytic Syndrome Associated With An Infection |
|
Increased circulating ferritin concentration, Ataxia, Hypertriglyceridemia, Hyperproteinemia |
ORPHA:158048 |
X-Linked Hypophosphatemia |
|
Hypophosphatemia |
ORPHA:89936 |
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy |
|
Hyperphosphatemia |
ORPHA:457059 |
Malignant Hyperthermia Of Anesthesia |
|
Hyperkalemia, Hyperphosphatemia, Elevated creatine kinase after exercise |
ORPHA:423 |
Hypophosphatemic Rickets |
|
Hypercalcemia, Hypophosphatemia |
ORPHA:437 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Optic atrophy, Hyperphosphatemia |
OMIM:101800 |
Acquired Generalized Lipodystrophy |
|
Abnormal circulating lipid concentration, Hypertriglyceridemia |
ORPHA:79086 |
Methanol Poisoning |
|
Abnormality of the optic nerve, Hyperlipidemia |
ORPHA:31825 |
Microtriplication 11Q24.1 |
|
Hyperlipidemia |
ORPHA:289522 |
Pseudohypoparathyroidism Type 1A |
|
Calcinosis, Hypocalcemic tetany, Hypocalcemic seizures, Laryngeal dystonia, Hypocalcemia, Hyperph... |
ORPHA:79443 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hyperlipidemia |
ORPHA:369 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia |
ORPHA:280365 |
Lysosomal Acid Lipase Deficiency |
|
Hyperkalemia, Hyponatremia, Hypercholesterolemia, Xanthelasma, Steatorrhea, Hypertriglyceridemia |
ORPHA:275761 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypercalcemia, Hypertriglyceridemia |
ORPHA:369837 |
Lipodystrophy, Familial Partial, Type 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:151660 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Hypertriglyceridemia |
OMIM:617591 |
Exercise-Induced Malignant Hyperthermia |
|
Hyperkalemia, Elevated circulating creatine kinase concentration, Ataxia, Hypocalcemia, Hyperphos... |
ORPHA:466650 |
Gaisböck Syndrome |
|
Hyperproteinemia, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Increased circulatin... |
ORPHA:90041 |
H Syndrome |
|
Hypertriglyceridemia |
ORPHA:168569 |
Nephrotic Syndrome, Type 1 |
|
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:256300 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Macular atrophy, Hypertriglyceridemia |
OMIM:619418 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:363618 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Hypertriglyceridemia |
ORPHA:536532 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hyperlipidemia, Hyperuricemia, Hypercholesterolemia, Xanthelasma, Hypertriglyceridemia |
ORPHA:79259 |
Tangier Disease |
|
Hypocholesterolemia, Hypertriglyceridemia |
ORPHA:31150 |
Congenital Analbuminemia |
|
Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia, Increased alpha-globulin |
ORPHA:86816 |
Alagille Syndrome 1 |
|
Hypercholesterolemia, Hypertriglyceridemia, Chorioretinal atrophy, Pigmentary retinopathy |
OMIM:118450 |
Acrodysostosis With Multiple Hormone Resistance |
|
Hyperactivity, Hyperphosphatemia, Hypocalcemia |
ORPHA:280651 |
Neutral Lipid Storage Myopathy |
|
Abnormal circulating creatine kinase concentration, Difficulty walking, Hypertriglyceridemia |
ORPHA:98908 |
Familial Multiple Lipomatosis |
|
Hyperlipidemia, Chorioretinitis |
ORPHA:199276 |
Griscelli Syndrome Type 2 |
|
Hyperlipidemia |
ORPHA:79477 |
Immunodeficiency 87 And Autoimmunity |
|
Elevated circulating C-reactive protein concentration, Hypertriglyceridemia, Hypokalemia |
OMIM:619573 |
Cholestasis-Lymphedema Syndrome |
|
Hyperlipidemia |
ORPHA:1414 |
19P13.12 Microdeletion Syndrome |
|
Hyperactivity, Hyperlipidemia |
ORPHA:254346 |
Hemorrhagic Fever-Renal Syndrome |
|
Hyperkalemia, Elevated circulating creatinine concentration, Hyperphosphatemia |
ORPHA:340 |
Combined Deficiency Of Factor V And Factor Viii |
|
Hyperlipidemia, Hyperuricemia |
ORPHA:35909 |
Wiedemann-Rautenstrauch Syndrome |
|
Hypertriglyceridemia, Truncal ataxia |
OMIM:264090 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Decreased HDL cholesterol concentration, Elevated circulating C-reactive protein concentration, H... |
OMIM:256040 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Elevated hemoglobin A1c, Hypertriglyceridemia |
OMIM:619127 |
Glycogen Storage Disease Ia |
|
Xanthelasma, Hyperlipidemia, Lipemia retinalis, Hyperuricemia |
OMIM:232200 |
Wiedemann-Rautenstrauch Syndrome |
|
Optic atrophy, Optic disc hypoplasia, Ataxia, Hypertriglyceridemia, Truncal ataxia, Pigmentary re... |
ORPHA:3455 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Hypertriglyceridemia |
OMIM:608594 |
Atypical Werner Syndrome |
|
Abnormality of retinal pigmentation, Retinal degeneration, Hypertriglyceridemia |
ORPHA:79474 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Decreased plasma free carnitine, Hyperlipidemia, Elevated circulating creatine kinase concentrati... |
ORPHA:157 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Hypertriglyceridemia |
OMIM:269700 |
Glycogen Storage Disease Ib |
|
Xanthelasma, Hyperlipidemia, Lipemia retinalis, Hyperuricemia |
OMIM:232220 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Hyperlipidemia |
OMIM:235400 |
X-Linked Lymphoproliferative Disease |
|
Increased circulating ferritin concentration, Hypertriglyceridemia |
ORPHA:2442 |
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia |
|
Increased circulating cortisol level, Hyperaldosteronism, Hyperlipidemia, Paradoxical increased c... |
ORPHA:189427 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Decreased plasma free carnitine, Hyperlipidemia, Elevated circulating creatine kinase concentrati... |
ORPHA:228308 |
Primary Lipodystrophy |
|
Hyperlipidemia |
ORPHA:90970 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Hyperlipidemia |
OMIM:608612 |
Schimke Immuno-Osseous Dysplasia |
|
Hyperlipidemia |
ORPHA:1830 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Calcinosis, Hyperlipidemia |
ORPHA:90154 |
Aapoaiv Amyloidosis |
|
Elevated circulating creatinine concentration, Hyperlipidemia |
ORPHA:439232 |
Primary Pigmented Nodular Adrenocortical Disease |
|
Increased circulating cortisol level, Hyperlipidemia, Paradoxical increased cortisol secretion on... |
ORPHA:189439 |
Parenteral Nutrition-Associated Cholestasis |
|
Abnormal circulating fatty-acid concentration, Conjugated hyperbilirubinemia, Hyperlipidemia |
ORPHA:567983 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Calcinosis, Hyperlipidemia |
OMIM:248370 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Hyperlipidemia |
ORPHA:90153 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Hyperlipidemia, Hypoalbuminemia |
ORPHA:567546 |
Woodhouse-Sakati Syndrome |
|
Dystonia, Hyperlipidemia |
OMIM:241080 |
Glycogen Storage Disease Ic |
|
Xanthelasma, Hyperlipidemia, Hyperuricemia |
OMIM:232240 |
Alström Syndrome |
|
Optic disc pallor, Hyperlipidemia, Drusen, Retinal dystrophy, Retinal pigment epithelial atrophy,... |
ORPHA:64 |
Fabry Disease |
|
Abnormal circulating lipid concentration, Optic atrophy, Hyperlipidemia |
ORPHA:324 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 15 |
|
Hyperalaninemia, Hyperglycinemia, Pigmentary retinopathy |
OMIM:619059 |
Triglyceride Deposit Cardiomyovasculopathy |
|
Elevated circulating creatine kinase concentration, Hyperlipidemia |
ORPHA:565612 |
Woodhouse-Sakati Syndrome |
|
Dystonia, Hyperlipidemia |
ORPHA:3464 |
Aromatase Deficiency |
|
Hyperlipidemia |
ORPHA:91 |
Homozygous Familial Hypercholesterolemia |
|
Increased LDL cholesterol concentration, Optic neuropathy, Hypercholesterolemia, Hyperlipidemia |
ORPHA:391665 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyponatremia, Hyperlipidemia |
ORPHA:293987 |
Turner Syndrome |
|
Attention deficit hyperactivity disorder, Hyperlipidemia |
ORPHA:881 |
Mosaic Monosomy X |
|
Attention deficit hyperactivity disorder, Hyperlipidemia |
ORPHA:99228 |
Monosomy X |
|
Attention deficit hyperactivity disorder, Hyperlipidemia |
ORPHA:99226 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Attention deficit hyperactivity disorder, Hyperlipidemia |
ORPHA:99413 |