Thomsen And Becker Disease |
|
Myotonia |
ORPHA:614 |
Hypertriglyceridemia 2 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:619324 |
Proximal Myotonic Myopathy |
|
Myotonia |
ORPHA:606 |
Atherosclerosis Susceptibility |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:108725 |
Rippling Muscle Disease 1 |
|
Muscle mounding, Percussion-induced rapid rolling muscle contractions |
OMIM:600332 |
Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
Normokalemic Periodic Paralysis |
|
Percussion myotonia |
OMIM:170600 |
Myotonia Congenita, Autosomal Dominant |
|
Handgrip myotonia, Percussion myotonia, Myotonia, EMG: myotonic runs, Myotonia with warm-up pheno... |
OMIM:160800 |
Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia |
OMIM:619855 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Increased HDL cholesterol concentration, Hyperlipoproteinemia, Hypotriglyceridemia, Hyperlipidemi... |
ORPHA:79506 |
Sitosterolemia 2 |
|
Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:144300 |
Hypercholesterolemia, Familial, 4 |
|
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:603813 |
Glycogen Storage Disease Vi |
|
Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia |
OMIM:232700 |
Fish-Eye Disease |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentr... |
OMIM:136120 |
Myopathy, Granulovacuolar Lobular, With Electrical Myotonia |
|
Myotonia |
OMIM:254950 |
Paramyotonia Congenita Of Von Eulenburg |
|
Myotonia of the upper limb, Handgrip myotonia, Myotonia of the jaw, Percussion myotonia, Myotonia... |
ORPHA:684 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Osteoporosis, Gout |
OMIM:610947 |
Myotonia Congenita, Autosomal Recessive |
|
Percussion myotonia, EMG: myotonic runs, Myotonia, Myotonia with warm-up phenomenon |
OMIM:255700 |
Muscular Dystrophy, Barnes Type |
|
Myotonia |
OMIM:158800 |
Hyperlipidemia, Familial Combined, 3 |
|
Increased LDL cholesterol concentration, Elevated circulating apolipoprotein A-II concentration, ... |
OMIM:144250 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypertriglyceridemia |
ORPHA:366 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia |
OMIM:608320 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hypertriglyceridemia |
OMIM:619175 |
Paramyotonia Congenita Of Von Eulenburg |
|
Paradoxical myotonia, Percussion myotonia, Handgrip myotonia |
OMIM:168300 |
Morbid Obesity And Spermatogenic Failure |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentr... |
OMIM:615703 |
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentration, Hype... |
OMIM:616516 |
Hepatic Lipase Deficiency |
|
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:614025 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia |
OMIM:615863 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... |
OMIM:616829 |
Hypertriglyceridemia 1 |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration |
OMIM:145750 |
Analbuminemia |
|
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Osteopor... |
OMIM:616000 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Hypercholesterolemia |
OMIM:301033 |
Hyperkalemic Periodic Paralysis |
|
Myotonia |
OMIM:170500 |
Rippling Muscle Disease 2 |
|
Muscle mounding, Percussion-induced rapid rolling muscle contractions |
OMIM:606072 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Craniosynostosis, Rickets, Increased bone mineral density, Hypophosphatemia, Hypophosphatemic ric... |
OMIM:241520 |
Papular Xanthoma |
|
Hyperlipidemia |
ORPHA:158008 |
Brody Disease |
|
Percussion myotonia, Myotonia |
OMIM:601003 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Hypertriglyceridemia |
OMIM:618010 |
Lipase Deficiency, Combined |
|
Hypertriglyceridemia |
OMIM:246650 |
Glycogen Storage Disease Ixa1 |
|
Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia |
OMIM:306000 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Decreased HDL cholesterol concentration, Decreased circulating apolipoprotein A-I concentration, ... |
OMIM:620058 |
Myotonia, Potassium-Aggravated |
|
Percussion myotonia, Myotonia, Handgrip myotonia |
OMIM:608390 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Conjugated hyperbilirubinemia, Increased total bilirubin, Increased serum bile acid concentration... |
OMIM:619868 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:245900 |
Myotonia Fluctuans |
|
Myotonia of the upper limb, Myotonia of the lower limb, Handgrip myotonia, Myotonia of the face, ... |
ORPHA:99734 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hypertriglyceridemia |
OMIM:608898 |
Cholesteryl Ester Storage Disease |
|
Hypertriglyceridemia, Hypercholesterolemia |
ORPHA:75234 |
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency |
|
Myotonia |
ORPHA:371 |
Hypercholesterolemia, Familial, 3 |
|
Abnormal LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia |
OMIM:603776 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Hypertriglyceridemia |
ORPHA:436182 |
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency |
|
Hypertriglyceridemia, Increased HDL cholesterol concentration |
ORPHA:140905 |
Distal Myopathy, Tateyama Type |
|
Abnormal circulating creatine kinase concentration, Hypercholesterolemia |
ORPHA:488650 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hypertriglyceridemia |
OMIM:615924 |
Hypertriglyceridemia, Transient Infantile |
|
Hypertriglyceridemia |
OMIM:614480 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypertriglyceridemia, Hypocalcemia, Hypercholesterolemia |
OMIM:612526 |
Hypercholesterolemia, Familial, 2 |
|
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia |
OMIM:144010 |
Neutral Lipid Storage Disease With Myopathy |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration |
OMIM:610717 |
Niemann-Pick Disease, Type B |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentr... |
OMIM:607616 |
Apolipoprotein C-Ii Deficiency |
|
Hypertriglyceridemia, Decreased circulating apolipoprotein C-II concentration, Hypercholesterolem... |
OMIM:207750 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
ORPHA:94124 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:607250 |
Hypophosphatemic Bone Disease |
|
Rickets, Hypophosphatemia, Osteomalacia |
OMIM:146350 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hyperammonemia, Hypercholesterolemia, Increased C-peptide level |
OMIM:620211 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertriglyceridemia |
ORPHA:71529 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulating creatine kina... |
OMIM:616828 |
Hypobetalipoproteinemia, Familial, 1 |
|
Decreased LDL cholesterol concentration, Steatorrhea, Hypertriglyceridemia, Decreased HDL cholest... |
OMIM:615558 |
Hypokalemic Periodic Paralysis, Type 1 |
|
Myotonia |
OMIM:170400 |
Body Mass Index Quantitative Trait Locus 19 |
|
Hypertriglyceridemia, Hyperlipidemia |
OMIM:617885 |
Growth Hormone Insensitivity Syndrome |
|
Hypercholesterolemia |
ORPHA:181393 |
Hypercholanemia, Familial 1 |
|
Increased serum bile acid concentration, Steatorrhea, Rickets |
OMIM:607748 |
Hypophosphatemic Rickets, Autosomal Dominant |
|
Rickets, Osteomalacia, Hypophosphatemia, Hypophosphatemic rickets |
OMIM:193100 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Joint hypermobility, Hypercholesterolemia |
ORPHA:254531 |
Morgagni-Stewart-Morel Syndrome |
|
Hyperostosis frontalis interna, Hyperuricemia, Osteoporosis, Osteoarthritis, Hypercholesterolemia |
ORPHA:77296 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hypertriglyceridemia, Increased circulating ferritin concentration |
OMIM:603552 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypercholesterolemia, Hypertyrosinemia, Hyperthreoninemia, Hypermethioninemia, Elevated plasma ci... |
OMIM:605814 |
Temple Syndrome |
|
Hypertriglyceridemia, Flexion contracture, Joint hypermobility, Hypercholesterolemia |
OMIM:616222 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentr... |
OMIM:618620 |
Axial Osteomalacia |
|
Increased bone mineral density, Osteomalacia, Elevated circulating creatine kinase concentration |
OMIM:109130 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia |
ORPHA:280356 |
Lipodystrophy, Familial Partial, Type 4 |
|
Hypertriglyceridemia |
OMIM:613877 |
Protoporphyria, Erythropoietic, 1 |
|
Hypertriglyceridemia |
OMIM:177000 |
Hyperlipoproteinemia, Type I |
|
Increased circulating chylomicron concentration, Hyperlipidemia, Hypercholesterolemia, Lactescent... |
OMIM:238600 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hypertriglyceridemia, Increased circulating ferritin concentration |
OMIM:300635 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hypertriglyceridemia, Increased circulating ferritin concentration |
OMIM:613101 |
Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:615812 |
Myotonia With Skeletal Abnormalities And Mental Retardation |
|
Myotonia |
OMIM:255710 |
Bile Acid Conjugation Defect 1 |
|
Rickets, Conjugated hyperbilirubinemia |
OMIM:619232 |
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 |
|
Percussion myotonia |
ORPHA:34516 |
Ataxia-Oculomotor Apraxia 4 |
|
Elevated circulating alpha-fetoprotein concentration, Hypercholesterolemia, Hypoalbuminemia |
OMIM:616267 |
Laron Syndrome |
|
Osteoarthritis, Hypercholesterolemia |
ORPHA:633 |
Acetazolamide-Responsive Myotonia |
|
Myotonia |
ORPHA:99736 |
Lipodystrophy, Familial Partial, Type 1 |
|
Hypertriglyceridemia |
OMIM:608600 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypertriglyceridemia, Joint hypermobility, Hypoalbuminemia |
OMIM:619013 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypertriglyceridemia, Abnormal circulating lipid concentration, Hypercholesterolemia, Hypoalbumin... |
ORPHA:567548 |
Renal Tubular Acidosis Iii |
|
Rickets, Hypokalemia, Osteomalacia |
OMIM:267200 |
Lcat Deficiency |
|
Hypertriglyceridemia, Decreased circulating apolipoprotein A-I concentration, Decreased HDL chole... |
ORPHA:650 |
Ataxia With Vitamin E Deficiency |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia |
OMIM:277460 |
Dysbetalipoproteinemia |
|
Increased LDL cholesterol concentration, Gout, Hypertriglyceridemia, Decreased HDL cholesterol co... |
ORPHA:412 |
Lipodystrophy, Familial Partial, Type 5 |
|
Hypertriglyceridemia, Increased C-peptide level |
OMIM:615238 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia |
ORPHA:209902 |
Renal Tubular Acidosis, Distal, 1 |
|
Pathologic fracture, Hypokalemia, Osteomalacia, Hypocalcemia, Elevated circulating creatinine con... |
OMIM:179800 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Hyperlipidemia |
ORPHA:79085 |
Citrullinemia, Type Ii, Adult-Onset |
|
Hypertriglyceridemia, Hyperargininemia, Hyperammonemia, Elevated plasma citrulline |
OMIM:603471 |
Congenital Generalized Lipodystrophy |
|
Hypertriglyceridemia, Bone cyst, Increased C-peptide level, Hypercholesterolemia |
ORPHA:528 |
Tangier Disease |
|
Hypertriglyceridemia, Decreased circulating apolipoprotein A-I concentration, Decreased HDL chole... |
OMIM:205400 |
Mandibuloacral Dysplasia |
|
Acroosteolysis of distal phalanges (feet), Osteolytic defects of the distal phalanges of the hand... |
ORPHA:2457 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Hypertriglyceridemia, Osteoporosis, Joint contracture |
OMIM:615381 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypercholesterolemia, Elevated circulating creatine kinase concentration, Hypoalbuminemia |
OMIM:208920 |
Pancreatic Lipase Deficiency |
|
Steatorrhea, Hypocholesterolemia |
OMIM:614338 |
Congenital Analbuminemia |
|
Hypoproteinemia, Hyperlipidemia, Increased alpha-globulin, Hypercholesterolemia, Hypoalbuminemia |
ORPHA:86816 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Abnormal circulating lipid concentration, Increased LDL cholesterol concentration, Hyperammonemia... |
ORPHA:247598 |
Smith-Magenis Syndrome |
|
Hypertriglyceridemia, Hypercholesterolemia |
OMIM:182290 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Rickets, Rickets of the lower limbs, Delayed epiphyseal ossification, Sparse bone trabeculae, Thi... |
OMIM:600785 |
Hyperlipoproteinemia, Type Id |
|
Decreased LDL cholesterol concentration, Hyperlipoproteinemia, Hypertriglyceridemia, Decreased HD... |
OMIM:615947 |
Citrullinemia Type Ii |
|
Hypoproteinemia, Acute hyperammonemia, Elevated plasma citrulline, Hypertriglyceridemia, Hyperlip... |
ORPHA:247585 |
Hypophosphatasia, Adult |
|
Rickets, Pathologic fracture, Osteomalacia, Increased susceptibility to fractures, Recurrent frac... |
OMIM:146300 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Increased LDL cholesterol concentration, Joint stiffness, Decreased cervical spine flexion due to... |
ORPHA:98855 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Rickets, Steatorrhea, Hypocholesterolemia, Conjugated hyperbilirubinemia |
OMIM:607765 |
Myopathy, X-Linked, With Excessive Autophagy |
|
Myotonia |
OMIM:310440 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Elevated circulating alpha-fetoprotein concentration, Hypercholesterolemia, Elevated circulating ... |
ORPHA:64753 |
Galactokinase Deficiency |
|
Hypergalactosemia, Increased level of galactitol in plasma, Hypercholesterolemia |
ORPHA:79237 |
Lipodystrophy, Familial Partial, Type 3 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hyperuricemia |
OMIM:604367 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hypertriglyceridemia |
ORPHA:363400 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hypoproteinemia, Increased LDL cholesterol concentration, Increased total bilirubin, Hypertriglyc... |
OMIM:267700 |
Xp21 Deletion Syndrome |
|
Reduced bone mineral density, Osteoporosis, Elevated circulating creatine kinase concentration, H... |
ORPHA:261476 |
Cog4-Cdg |
|
Hypercholesterolemia |
ORPHA:263501 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Joint hypermobility, Hypercholesterolemia |
ORPHA:96184 |
Chylomicron Retention Disease |
|
Hypertriglyceridemia, Steatorrhea, Hypocholesterolemia |
ORPHA:71 |
Werner Syndrome |
|
Elevated hemoglobin A1c, Reduced bone mineral density, Osteoporosis, Hypertriglyceridemia |
OMIM:277700 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Rickets, Hypophosphatemia, Hypocalcemia, Osteomalacia |
ORPHA:89937 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Hypertriglyceridemia, Increased circulating ferritin concentration |
OMIM:618398 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Increased LDL cholesterol concentration, Joint stiffness, Decreased cervical spine flexion due to... |
ORPHA:98863 |
Nephrotic Syndrome, Type 11 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:616730 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Increased LDL cholesterol concentration, Joint stiffness, Decreased cervical spine flexion due to... |
ORPHA:98853 |
Emery-Dreifuss Muscular Dystrophy |
|
Increased LDL cholesterol concentration, Joint stiffness, Decreased cervical spine flexion due to... |
ORPHA:261 |
Cidec-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Hyperlipidemia |
ORPHA:435651 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Hyperbilirubinemia, Hypertriglyceridemia, Increased circulating ferritin concentration, Elevated ... |
ORPHA:158057 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Camptodactyly, Acroosteolysis of distal phalanges (feet), Osteolytic defects of the distal phalan... |
OMIM:248370 |
Episodic Ataxia, Type 2 |
|
Myotonia |
OMIM:108500 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Reduced bone mineral density, Hypophosphatemia, Pathologic fracture, Increased circulating beta-C... |
ORPHA:157215 |
Cholesteryl Ester Storage Disease |
|
Increased LDL cholesterol concentration, Steatorrhea, Hypertriglyceridemia, Decreased HDL cholest... |
OMIM:278000 |
Lipe-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Hyperlipidemia, Elevated circulating creatine kinase concentration |
ORPHA:435660 |
Autosomal Recessive Axonal Neuropathy With Neuromyotonia |
|
Myotonia, Handgrip myotonia, Percussion-induced rapid rolling muscle contractions |
ORPHA:324442 |
Sitosterolemia 1 |
|
Reduced haptoglobin level, Elevated circulating sitosterol concentration, Arthritis, Xanthelasma,... |
OMIM:210250 |
Fanconi-Bickel Syndrome |
|
Hypertriglyceridemia, Rickets, Hypophosphatemia, Osteopenia |
ORPHA:2088 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Osteolysis, Hypophosphatemia, Osteomalacia, Coarse metaphyseal trabecularization, Bone cyst, Recu... |
ORPHA:93160 |
Hypokalemic Periodic Paralysis |
|
Myotonia |
ORPHA:681 |
Fanconi Renotubular Syndrome 2 |
|
Rickets, Hypophosphatemia, Osteomalacia, Osteopenia, Recurrent fractures |
OMIM:613388 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Rickets, Hypophosphatemia, Osteomalacia, Hypophosphatemic rickets, Delayed epiphyseal ossificatio... |
OMIM:300554 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Elevated circulating alpha-fetoprotein concentration, Increased serum bile acid concentration, Hy... |
OMIM:619662 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Rickets, Hypophosphatemia, Delayed epiphyseal ossification, Sparse bone trabeculae, Hypocalcemia,... |
OMIM:600081 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Rickets, Hypokalemia |
OMIM:602722 |
Macrophage Activation Syndrome |
|
Juvenile rheumatoid arthritis, Hypertriglyceridemia, Elevated circulating C-reactive protein conc... |
ORPHA:158061 |
Myofibrillar Myopathy 10 |
|
Percussion myotonia |
OMIM:619040 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hyperlipidemia, Osteoporosis, Osteopenia |
ORPHA:369 |
Smith-Magenis Syndrome |
|
Hypertriglyceridemia, Hypercholesterolemia, Joint stiffness |
ORPHA:819 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypertriglyceridemia, Hypercholesterolemia |
OMIM:610644 |
Myotonia Permanens |
|
Myotonia |
ORPHA:99735 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hyperlipidemia, Hyperuricemia |
ORPHA:364 |
Fanconi Renotubular Syndrome 3 |
|
Rickets, Elevated circulating creatinine concentration |
OMIM:615605 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperlipidemia |
ORPHA:329249 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Hypercholesterolemia |
ORPHA:401923 |
Glycogen Storage Disease Ixc |
|
Hypertriglyceridemia |
OMIM:613027 |
Megalocornea-Intellectual Disability Syndrome |
|
Joint hyperflexibility, Hypercholesterolemia, Osteopenia |
ORPHA:2479 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Rickets, Hypophosphatemia, Abnormal circulating calcium concentration, Hypophosphatemic rickets, ... |
OMIM:241530 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Osteoporosis, Hypercholesterolemia, Elevated circulating creatine kinase co... |
ORPHA:79240 |
Episodic Ataxia Type 1 |
|
Myotonia |
ORPHA:37612 |
Megalocornea-Mental Retardation Syndrome |
|
Hypercholesterolemia, Osteopenia |
OMIM:249310 |
Zebra Body Myopathy |
|
Handgrip myotonia |
ORPHA:97240 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Rickets, Osteopenia, Conjugated hyperbilirubinemia |
OMIM:211600 |
Focal Segmental Glomerulosclerosis 1 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:603278 |
Cholestasis-Lymphedema Syndrome |
|
Hyperlipidemia, Conjugated hyperbilirubinemia |
OMIM:214900 |
Nephrotic Syndrome, Type 14 |
|
Hypertriglyceridemia, Hypoalbuminemia |
OMIM:617575 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Osteoporosis, Hypercholesterolemia, Elevated circulating creatine kinase co... |
ORPHA:264580 |
Fanconi Renotubular Syndrome 1 |
|
Rickets, Hypophosphatemia, Hypokalemia, Osteomalacia |
OMIM:134600 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Mildly elevated creatine kinase, Hyperlipidemia |
OMIM:604484 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Hypertriglyceridemia, Increased circulating ferritin concentration |
OMIM:619313 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Osteoporosis, Osteopenia, Elevated circulating creatine kinase concentration, Hypertriglyceridemi... |
OMIM:613327 |
Glycogen Storage Disease Iii |
|
Hyperlipidemia, Elevated circulating creatine kinase concentration |
OMIM:232400 |
Galloway-Mowat Syndrome 7 |
|
Hypercholesterolemia |
OMIM:618348 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Rickets, Hypophosphatemia, Abnormal circulating calcium concentration, Osteoarthritis, Hypophosph... |
OMIM:307800 |
Griscelli Syndrome Type 1 |
|
Hyperlipidemia |
ORPHA:79476 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypertriglyceridemia |
ORPHA:66628 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Myotonia |
ORPHA:391307 |
Myotonic Dystrophy 1 |
|
Myotonia |
OMIM:160900 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Rickets, Hypophosphatemia, Hypocalcemic seizures, Delayed epiphyseal ossification, Sparse bone tr... |
OMIM:264700 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypertriglyceridemia |
ORPHA:179494 |
Alstrom Syndrome |
|
Hypertriglyceridemia, Hyperostosis frontalis interna, Decreased HDL cholesterol concentration, Hy... |
OMIM:203800 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Hypertriglyceridemia |
ORPHA:2348 |
Pparg-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Hyperuricemia |
ORPHA:79083 |
Lysinuric Protein Intolerance |
|
Increased LDL cholesterol concentration, Hyperammonemia, Hyperglutaminemia, Pathologic fracture, ... |
ORPHA:470 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Rickets, Hypokalemia |
OMIM:611590 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Rickets, Hypophosphatemia, Hypocalcemic seizures, Osteomalacia, Delayed epiphyseal ossification, ... |
ORPHA:289157 |
Hypophosphatemic Rickets And Hyperparathyroidism |
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Rickets, Hypercalcemia, Hypophosphatemia, Hypophosphatemic rickets |
OMIM:612089 |
Acquired Generalized Lipodystrophy |
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Hypertriglyceridemia, Abnormal circulating lipid concentration, Unicameral bone cyst |
ORPHA:79086 |
Infantile Systemic Hyalinosis |
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Camptodactyly of finger, Joint stiffness, Steatorrhea, Osteoporosis, Osteomalacia, Osteopenia, In... |
ORPHA:2176 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
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Hypoproteinemia, Increased total bilirubin, Hypertriglyceridemia, Increased circulating ferritin ... |
OMIM:603553 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
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Hypertriglyceridemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration |
ORPHA:370 |
Lipodystrophy, Familial Partial, Type 6 |
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Hyperlipidemia, Abnormal circulating lipid concentration, Elevated circulating creatine kinase co... |
OMIM:615980 |
Dent Disease 1 |
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Rickets, Hypophosphatemia, Osteomalacia, Delayed epiphyseal ossification, Sparse bone trabeculae,... |
OMIM:300009 |
Vitamin D-Dependent Rickets, Type 2A |
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Rickets, Hypophosphatemia, Hypocalcemic seizures, Delayed epiphyseal ossification, Sparse bone tr... |
OMIM:277440 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
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Hypertriglyceridemia, Flexion contracture, Arthritis |
OMIM:617591 |
Disorder Of Bile Acid Synthesis |
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Rickets |
ORPHA:79168 |
Myotonic Dystrophy 2 |
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Myotonia, Handgrip myotonia |
OMIM:602668 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
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Hypercholesterolemia |
ORPHA:90065 |
Richieri Costa-Da Silva Syndrome |
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Myotonia of the upper limb, Handgrip myotonia |
ORPHA:3101 |
Familial Hemophagocytic Lymphohistiocytosis |
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Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoalbuminemia |
ORPHA:540 |
Immunodeficiency 97 With Autoinflammation |
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Hypertriglyceridemia, Increased circulating ferritin concentration |
OMIM:619802 |
Gaisböck Syndrome |
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Increased circulating renin level, Hyperuricemia, Gout, Hyperproteinemia, Hypertriglyceridemia, H... |
ORPHA:90041 |
Spastic Paraplegia 79B, Autosomal Recessive |
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Myotonia |
OMIM:615491 |
Congenital-Onset Steinert Myotonic Dystrophy |
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Myotonia |
ORPHA:589821 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
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Hyperuricemia, Gout, Osteoporosis, Osteopenia, Hypertriglyceridemia, Hyperlipidemia, Xanthelasma,... |
ORPHA:79259 |
Congenital Bile Acid Synthesis Defect Type 2 |
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Rickets, Steatorrhea, Conjugated hyperbilirubinemia, Hyperbilirubinemia, Abnormal serum bile acid... |
ORPHA:79303 |
Fibrous Dysplasia Of Bone |
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Rickets, Patchy reduction of bone mineral density, Osteolysis, Hypophosphatemia, Fibrous dysplasi... |
ORPHA:249 |
Cholestasis-Lymphedema Syndrome |
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Hyperlipidemia, Reduced bone mineral density |
ORPHA:1414 |
Microtriplication 11Q24.1 |
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Hyperlipidemia, Limitation of joint mobility |
ORPHA:289522 |
Isolated Thyroid-Stimulating Hormone Deficiency |
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Abnormal circulating thyroglobulin level, Delayed proximal femoral epiphyseal ossification, Neona... |
ORPHA:90674 |
Hyperkalemic Periodic Paralysis |
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Myotonia |
ORPHA:682 |
Lipodystrophy, Familial Partial, Type 2 |
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Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:151660 |
Familial Chylomicronemia Syndrome |
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Hypertriglyceridemia, Hyperlipidemia, Increased circulating chylomicron concentration |
ORPHA:444490 |
Low Phospholipid-Associated Cholelithiasis |
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Hypercholesterolemia |
ORPHA:69663 |
H Syndrome |
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Hypertriglyceridemia, Camptodactyly, Osteolysis, Recurrent fractures |
ORPHA:168569 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
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Hypertriglyceridemia, Acroosteolysis of distal phalanges (feet), Decreased HDL cholesterol concen... |
ORPHA:280365 |
Diarrhea 10, Protein-Losing Enteropathy Type |
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Hypertriglyceridemia, Hypomagnesemia, Hypocalcemia, Hyponatremia, Hypoalbuminemia |
OMIM:618183 |
Glycerol Kinase Deficiency |
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Hypertriglyceridemia, Osteoporosis, Pathologic fracture, Hyperglycerolemia |
OMIM:307030 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
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Hypouricemia, Rickets, Hypophosphatemia |
OMIM:616026 |
Lowe Oculocerebrorenal Syndrome |
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Rickets, Camptodactyly of finger, Pathologic fracture, Bicarbonaturia, Elevated circulating creat... |
OMIM:309000 |
Cystinosis |
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Rickets, Hypophosphatemia, Hypokalemia |
ORPHA:213 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
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Craniosynostosis, Osteopenia, Hypertriglyceridemia, Joint hypermobility, Hypercalcemia |
ORPHA:369837 |
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
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EMG: myotonic runs |
ORPHA:353 |
Autosomal Recessive Hypophosphatemic Rickets |
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Craniosynostosis, Rickets of the lower limbs, Renal hypophosphatemia, Increased bone mineral dens... |
ORPHA:289176 |
Neutral Lipid Storage Disease With Ichthyosis |
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Hypertriglyceridemia, Abnormal circulating creatine kinase concentration |
ORPHA:98907 |
Dermatosparaxis Ehlers-Danlos Syndrome |
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Rickets, Joint stiffness, Osteoporosis, Osteopenia, Osteomalacia, Joint hyperflexibility |
ORPHA:1901 |
Fanconi-Bickel Syndrome |
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Rickets, Hypophosphatemia, Hypouricemia, Hypergalactosemia, Hypokalemia, Osteomalacia, Increased ... |
OMIM:227810 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
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Hypertriglyceridemia, Hypercholesterolemia |
ORPHA:363618 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
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Increased LDL cholesterol concentration, Abnormal circulating lipid concentration, Pathologic fra... |
ORPHA:77293 |
Mccune-Albright Syndrome |
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Fibrous dysplasia of the bones, Hypophosphatemia, Increased circulating cortisol level, Primary h... |
ORPHA:562 |
Tangier Disease |
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Hypertriglyceridemia, Hypocholesterolemia |
ORPHA:31150 |
Schwartz-Jampel Syndrome, Type 1 |
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Percussion myotonia |
OMIM:255800 |
Lysosomal Acid Lipase Deficiency |
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Steatorrhea, Hyponatremia, Hyperkalemia, Hypertriglyceridemia, Xanthelasma, Hypercholesterolemia |
ORPHA:275761 |
Seckel Syndrome 10 |
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Elevated hemoglobin A1c, Hypertriglyceridemia |
OMIM:617253 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
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Rickets, Osteoporosis |
OMIM:560000 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
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Hypertriglyceridemia, Joint hypermobility, Osteopenia |
ORPHA:536532 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
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Hyperlipidemia |
ORPHA:2089 |
Dent Disease |
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Rickets, Renal hypophosphatemia, Osteomalacia, Elevated circulating creatine kinase concentration... |
ORPHA:1652 |
Immunodeficiency 47 |
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Joint hypermobility, Decreased circulating copper concentration, Hypercholesterolemia |
OMIM:300972 |
Nephrotic Syndrome, Type 1 |
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Hyperlipidemia, Hypoproteinemia, Hypoalbuminemia |
OMIM:256300 |
Pancreatic Triacylglycerol Lipase Deficiency |
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Rickets, Steatorrhea, Osteoporosis, Osteomalacia |
ORPHA:309031 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
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Osteomalacia, Hypophosphatemia, Hypermagnesemia, Hypercalcemia |
OMIM:600740 |
Combined Deficiency Of Factor V And Factor Viii |
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Hyperlipidemia, Hyperuricemia, Joint hemorrhage |
ORPHA:35909 |
Bardet-Biedl Syndrome 20 |
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Hypercholesterolemia |
OMIM:619471 |
Hemophagocytic Syndrome Associated With An Infection |
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Hypertriglyceridemia, Hyperproteinemia, Increased circulating ferritin concentration |
ORPHA:158048 |
Hypophosphatemic Rickets |
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Rickets, Craniofacial osteosclerosis, Hypophosphatemia, Joint stiffness, Enthesitis, Hyperostosis... |
ORPHA:437 |
X-Linked Hypophosphatemia |
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Rickets, Craniosynostosis, Reduced bone mineral density, Generalized osteosclerosis, Hypophosphat... |
ORPHA:89936 |
Oculocerebrorenal Syndrome Of Lowe |
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Hyperaldosteronism, Hypophosphatemia, Hypercholesterolemia, Joint stiffness, Hypokalemia, Osteoma... |
ORPHA:534 |
Celiac Disease, Susceptibility To, 1 |
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Rickets, Steatorrhea, Osteoporosis, Hypocalcemia |
OMIM:212750 |
Mandibuloacral Dysplasia Progeroid Syndrome |
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Joint stiffness, Osteopenia, Osteolytic defects of the phalanges of the hand, Hypertriglyceridemi... |
OMIM:619127 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
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Osteolysis, Acroosteolysis of distal phalanges (feet), Osteolytic defects of the distal phalanges... |
ORPHA:90153 |
Methanol Poisoning |
|
Hyperlipidemia |
ORPHA:31825 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
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Hypertriglyceridemia, Joint hypermobility |
OMIM:619418 |
Chédiak-Higashi Syndrome |
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Increased circulating ferritin concentration, Hypoproteinemia, Hypertriglyceridemia, Hyponatremia |
ORPHA:167 |
Idiopathic Camptocormia |
|
Myotonia |
ORPHA:1320 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
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Osteolysis, Acroosteolysis of distal phalanges (feet), Osteolytic defects of the distal phalanges... |
ORPHA:90154 |
Griscelli Syndrome Type 2 |
|
Hyperlipidemia |
ORPHA:79477 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
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Acroosteolysis of distal phalanges (feet), Progressive clavicular acroosteolysis, Osteolytic defe... |
OMIM:608612 |
Stuve-Wiedemann Syndrome 1 |
|
Myotonia |
OMIM:601559 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
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Hyperaldosteronism, Increased circulating cortisol level, Osteoporosis, Hyperlipidemia, Paradoxic... |
ORPHA:189427 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Rickets, Recurrent fractures |
OMIM:268315 |
Atypical Werner Syndrome |
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Increased bone mineral density, Reduced bone mineral density, Sclerosis of hand bone, Progressive... |
ORPHA:79474 |
Primary Fanconi Renotubular Syndrome |
|
Hypophosphatemia, Hypouricemia, Bicarbonaturia, Hypokalemia, Hypophosphatemic rickets, Osteomalac... |
ORPHA:3337 |
Neu-Laxova Syndrome |
|
Rickets, Arthrogryposis multiplex congenita, Osteoporosis, Osteopenia, Osteomalacia, Flexion cont... |
ORPHA:2671 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Handgrip myotonia |
ORPHA:438216 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Elevated hemoglobin A1c, Hypertriglyceridemia, Cystic angiomatosis of bone |
OMIM:269700 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Hypertriglyceridemia, Cystic angiomatosis of bone |
OMIM:608594 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Rickets |
OMIM:219900 |
Wilson Disease |
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Hypouricemia, Osteoporosis, Increased circulating copper concentration, Osteoarthritis, Osteomala... |
OMIM:277900 |
Glycogen Storage Disease Ia |
|
Hyperuricemia, Gout, Osteoporosis, Hyperlipidemia, Xanthelasma |
OMIM:232200 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Camptodactyly of finger, Flexion contracture of toe, Flexion contracture of finger, Hypertriglyce... |
OMIM:256040 |
Alagille Syndrome 1 |
|
Hypertriglyceridemia, Hypercholesterolemia |
OMIM:118450 |
Neutral Lipid Storage Myopathy |
|
Hypertriglyceridemia, Abnormal circulating creatine kinase concentration |
ORPHA:98908 |
Distal Renal Tubular Acidosis |
|
Rickets, Reduced bone mineral density, Hypokalemia, Osteomalacia, Increased susceptibility to fra... |
ORPHA:18 |
Immunodeficiency 87 And Autoimmunity |
|
Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Hypokalemia |
OMIM:619573 |
Infantile Nephropathic Cystinosis |
|
Rickets, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia |
ORPHA:411629 |
Schwartz-Jampel Syndrome |
|
Myotonia |
ORPHA:800 |
Aromatase Deficiency |
|
Delayed epiphyseal ossification, Hyperlipidemia, Osteoporosis, Osteopenia |
ORPHA:91 |
Familial Hypocalciuric Hypercalcemia |
|
Renal hypophosphatemia, Hypocalcemic seizures, Hypermagnesemia, Osteomalacia, Hypercalcemia |
ORPHA:405 |
Obsolete: Primary Pigmented Nodular Adrenocortical Disease |
|
Increased circulating cortisol level, Osteoporosis, Hyperlipidemia, Paradoxical increased cortiso... |
ORPHA:189439 |
Glycogen Storage Disease Ib |
|
Hyperuricemia, Gout, Osteoporosis, Hyperlipidemia, Xanthelasma |
OMIM:232220 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Rickets, Reduced bone mineral density, Osteopenia, Unconjugated hyperbilirubinemia, Joint laxity,... |
OMIM:613658 |
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
EMG: myotonic runs |
ORPHA:206549 |
Thyrotoxic Periodic Paralysis |
|
Myotonia |
ORPHA:79102 |
Lipodystrophy, Familial Partial, Type 7 |
|
Hypertriglyceridemia, Hypercholesterolemia |
OMIM:606721 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Decreased plasma free carnitine, Elevated circulating acylcarnitine concentration, Elevated circu... |
ORPHA:157 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Hyperlipidemia, Increased blood urea nitrogen, Elevated circulating creatinine concentration |
OMIM:235400 |
Primary Lipodystrophy |
|
Hyperlipidemia |
ORPHA:90970 |
Familial Multiple Lipomatosis |
|
Hyperlipidemia |
ORPHA:199276 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hyperammonemia, Decreased plasma free carnitine, Elevated circulating acylcarnitine concentration... |
ORPHA:228308 |
Steinert Myotonic Dystrophy |
|
Hypercholesterolemia |
ORPHA:273 |
Aapoaiv Amyloidosis |
|
Hyperlipidemia, Elevated circulating creatinine concentration |
ORPHA:439232 |
X-Linked Lymphoproliferative Disease |
|
Hypertriglyceridemia, Increased circulating ferritin concentration |
ORPHA:2442 |
Occipital Horn Syndrome |
|
Rickets, Osteolysis, Osteoporosis, Synostosis of joints, Osteopenia, Osteomalacia, Joint hyperfle... |
ORPHA:198 |
Cystinosis, Nephropathic |
|
Rickets, Hypophosphatemia, Hypokalemia, Hypophosphatemic rickets, Reduced blood urea nitrogen, De... |
OMIM:219800 |
Wiedemann-Rautenstrauch Syndrome |
|
Hypertriglyceridemia, Flexion contracture |
OMIM:264090 |
Wiedemann-Rautenstrauch Syndrome |
|
Camptodactyly of finger, Osteopenia, Hypertriglyceridemia, Joint hypermobility, Synovitis |
ORPHA:3455 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Conjugated hyperbilirubinemia, Osteopenia, Hyperbilirubinemia, Elevated circulating creatinine co... |
OMIM:619534 |
Homozygous Familial Hypercholesterolemia |
|
Hyperlipidemia, Increased LDL cholesterol concentration, Hypercholesterolemia |
ORPHA:391665 |
Parenteral Nutrition-Associated Cholestasis |
|
Hyperlipidemia, Abnormal circulating fatty-acid concentration, Conjugated hyperbilirubinemia |
ORPHA:567983 |
Glycogen Storage Disease Ic |
|
Hyperlipidemia, Gout, Xanthelasma, Hyperuricemia |
OMIM:232240 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Hyperlipidemia, Hypoalbuminemia |
ORPHA:567546 |
Immunodeficiency 82 With Systemic Inflammation |
|
Arthritis, Osteomalacia, Elevated circulating C-reactive protein concentration, Osteomyelitis, Hy... |
OMIM:619381 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Rickets, Osteoporosis, Osteopenia, Osteomalacia, Abnormally ossified vertebrae |
ORPHA:2636 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Hyperlipidemia, Elevated circulating creatine kinase concentration |
ORPHA:565612 |
Woodhouse-Sakati Syndrome |
|
Hyperlipidemia, Osteopenia |
ORPHA:3464 |
Generalized Arterial Calcification Of Infancy |
|
Fused cervical vertebrae, Osteomalacia, Abnormal calcification of the carpal bones, Hypophosphate... |
ORPHA:51608 |
Woodhouse-Sakati Syndrome |
|
Hyperlipidemia |
OMIM:241080 |
Alström Syndrome |
|
Hypertriglyceridemia, Hyperlipidemia, Hyperostosis frontalis interna |
ORPHA:64 |