Thomsen And Becker Disease |
|
Myotonia |
ORPHA:614 |
Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:619324 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi... |
ORPHA:79506 |
Proximal Myotonic Myopathy |
|
Myotonia |
ORPHA:606 |
Atherosclerosis Susceptibility |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:108725 |
Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
Rippling Muscle Disease 1 |
|
Percussion-induced rapid rolling muscle contractions, Muscle mounding |
OMIM:600332 |
Myotonia Congenita, Autosomal Dominant |
|
Handgrip myotonia, Myotonia with warm-up phenomenon, Myotonia, Percussion myotonia, EMG: myotonic... |
OMIM:160800 |
Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia |
OMIM:619855 |
Sitosterolemia 2 |
|
Hypercholesterolemia, Elevated circulating sitosterol concentration |
OMIM:618666 |
Hypoalphalipoproteinemia, Primary, 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:604091 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:144300 |
Hypercholesterolemia, Familial, 4 |
|
Decreased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:603813 |
Glycogen Storage Disease Vi |
|
Hyperlipidemia, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:232700 |
Fish-Eye Disease |
|
Increased VLDL cholesterol concentration, Increased LDL cholesterol concentration, Decreased HDL ... |
OMIM:136120 |
Myopathy, Granulovacuolar Lobular, With Electrical Myotonia |
|
Myotonia |
OMIM:254950 |
Paramyotonia Congenita Of Von Eulenburg |
|
Handgrip myotonia, Myotonia, Percussion myotonia, Myotonia of the face, Cold-sensitive myotonia, ... |
ORPHA:684 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Osteoporosis, Increased LDL cholesterol concentration, Gout, Hypertriglyceridemia |
OMIM:610947 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypertriglyceridemia |
ORPHA:366 |
Myotonia Congenita, Autosomal Recessive |
|
Percussion myotonia, Myotonia with warm-up phenomenon, Myotonia, EMG: myotonic runs |
OMIM:255700 |
Muscular Dystrophy, Barnes Type |
|
Myotonia |
OMIM:158800 |
Hyperlipidemia, Familial Combined, 3 |
|
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... |
OMIM:144250 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia |
OMIM:608320 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hypertriglyceridemia |
OMIM:619175 |
Paramyotonia Congenita |
|
Handgrip myotonia, Percussion myotonia, Paradoxical myotonia |
OMIM:168300 |
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Elbow flexion contracture, Increased LDL cholesterol concentration, Elevated circulating creatine... |
OMIM:616516 |
Morbid Obesity And Spermatogenic Failure |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Decreased HD... |
OMIM:615703 |
Hepatic Lipase Deficiency |
|
Increased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:614025 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia |
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 |
|
Hypoalbuminemia, Increased LDL cholesterol concentration, Elevated circulating transferrin concen... |
OMIM:616000 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Hypercholesterolemia |
OMIM:301033 |
Hyperkalemic Periodic Paralysis |
|
Myotonia |
OMIM:170500 |
Rippling Muscle Disease 2 |
|
Percussion-induced rapid rolling muscle contractions, Muscle mounding |
OMIM:606072 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Rickets, Hypophosphatemic rickets, Hypophosphatemia, Craniosynostosis, Increased bone mineral den... |
OMIM:241520 |
Brody Disease |
|
Percussion myotonia, Myotonia |
OMIM:601003 |
Lipase Deficiency, Combined |
|
Hypertriglyceridemia |
OMIM:246650 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hypoalbuminemia, Increased total bilirubin, Increased serum bile acid concentration, Hypercholest... |
OMIM:619868 |
Glycogen Storage Disease Ixa1 |
|
Hypercholesterolemia, Hyperuricemia, Hypertriglyceridemia |
OMIM:306000 |
Myotonia, Potassium-Aggravated |
|
Handgrip myotonia, Myotonia, Percussion myotonia |
OMIM:608390 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:245900 |
Hypokalemic Periodic Paralysis, Type 2 |
|
Myotonia |
OMIM:613345 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hypertriglyceridemia |
OMIM:608898 |
Hypercholesterolemia, Familial, 3 |
|
Xanthelasma, Hypercholesterolemia, Abnormal LDL cholesterol concentration |
OMIM:603776 |
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency |
|
Myotonia |
ORPHA:371 |
Distal Myopathy, Tateyama Type |
|
Abnormal circulating creatine kinase concentration, Hypercholesterolemia |
ORPHA:488650 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Hypertriglyceridemia |
ORPHA:436182 |
Cholesteryl Ester Storage Disease |
|
Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:75234 |
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency |
|
Increased HDL cholesterol concentration, Hypertriglyceridemia |
ORPHA:140905 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hypertriglyceridemia |
OMIM:615924 |
Hypertriglyceridemia, Transient Infantile |
|
Hypertriglyceridemia |
OMIM:614480 |
Hypercholesterolemia, Familial, 2 |
|
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:144010 |
Niemann-Pick Disease, Type B |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... |
OMIM:607616 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Increased C-peptide level, Hypercholesterolemia, Hyperammonemia |
OMIM:620211 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
ORPHA:94124 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypercholesterolemia, Hypocalcemia, Hypertriglyceridemia |
OMIM:612526 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:607250 |
Apolipoprotein C-Ii Deficiency |
|
Hypercholesterolemia, Decreased circulating apolipoprotein C-II concentration, Increased circulat... |
OMIM:207750 |
Myotonia Fluctuans |
|
Handgrip myotonia, Myotonia with warm-up phenomenon, Myotonia of the lower limb, Myotonia of the ... |
ORPHA:99734 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertriglyceridemia |
ORPHA:71529 |
Hypophosphatemic Bone Disease |
|
Hypophosphatemia, Rickets, Osteomalacia |
OMIM:146350 |
Hypercholanemia, Familial 1 |
|
Steatorrhea, Rickets, Increased serum bile acid concentration |
OMIM:607748 |
Hypokalemic Periodic Paralysis, Type 1 |
|
Myotonia |
OMIM:170400 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulating creatine kina... |
OMIM:616828 |
Morgagni-Stewart-Morel Syndrome |
|
Hyperuricemia, Hypercholesterolemia, Osteoarthritis, Osteoporosis, Hyperostosis frontalis interna |
ORPHA:77296 |
Body Mass Index Quantitative Trait Locus 19 |
|
Hyperlipidemia, Hypertriglyceridemia |
OMIM:617885 |
Hypobetalipoproteinemia, Familial, 1 |
|
Decreased HDL cholesterol concentration, Hypocholesterolemia, Decreased LDL cholesterol concentra... |
OMIM:615558 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypermethioninemia, Decreased HDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemi... |
OMIM:605814 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Hypercholesterolemia, Joint hypermobility |
ORPHA:254531 |
Renal Tubular Acidosis, Proximal |
|
Elevated circulating creatinine concentration, Rickets, Osteomalacia |
OMIM:179830 |
Hypophosphatemic Rickets, Autosomal Dominant |
|
Hypophosphatemia, Hypophosphatemic rickets, Rickets, Osteomalacia |
OMIM:193100 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:603552 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Elevated hemoglobin A1c, Increased LDL cholesterol concentration, Hypertriglyceridemia, Decreased... |
OMIM:618620 |
Nephrotic Syndrome, Type 2 |
|
Hypoalbuminemia, Hyperlipidemia |
OMIM:600995 |
Protoporphyria, Erythropoietic, 1 |
|
Hypertriglyceridemia |
OMIM:177000 |
Temple Syndrome |
|
Joint hypermobility, Flexion contracture, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:616222 |
Bile Acid Conjugation Defect 1 |
|
Conjugated hyperbilirubinemia, Rickets |
OMIM:619232 |
Lipodystrophy, Familial Partial, Type 4 |
|
Hypertriglyceridemia |
OMIM:613877 |
Immunodeficiency 109 With Lymphoproliferation |
|
Hypertriglyceridemia |
OMIM:620282 |
Axial Osteomalacia |
|
Increased bone mineral density, Osteomalacia, Elevated circulating creatine kinase concentration |
OMIM:109130 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia |
ORPHA:280356 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:300635 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hypertriglyceridemia, Increased circulating ferritin concentration |
OMIM:613101 |
Myotonia With Skeletal Abnormalities And Impaired Intellectual Development |
|
Myotonia |
OMIM:255710 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypoalbuminemia, Joint hypermobility, Hypertriglyceridemia |
OMIM:619013 |
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 |
|
Percussion myotonia |
ORPHA:34516 |
Laron Syndrome |
|
Hypercholesterolemia, Osteoarthritis |
ORPHA:633 |
Acetazolamide-Responsive Myotonia |
|
Myotonia |
ORPHA:99736 |
Lipodystrophy, Familial Partial, Type 1 |
|
Hypertriglyceridemia |
OMIM:608600 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:615812 |
Hyperlipoproteinemia, Type I |
|
Lactescent serum, Hyperlipidemia, Increased circulating chylomicron concentration, Hypercholester... |
OMIM:238600 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Osteomyelitis, Hypertriglyceridemia |
OMIM:618010 |
Ataxia-Oculomotor Apraxia 4 |
|
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration |
OMIM:616267 |
Renal Tubular Acidosis, Distal, 1 |
|
Osteomalacia, Pathologic fracture, Elevated circulating creatinine concentration, Hypocalcemia, H... |
OMIM:179800 |
Citrullinemia, Type Ii, Adult-Onset |
|
Elevated plasma citrulline, Hyperammonemia, Hyperargininemia, Hypertriglyceridemia |
OMIM:603471 |
Lcat Deficiency |
|
Hypertriglyceridemia, Decreased circulating apolipoprotein A-I concentration, Decreased HDL chole... |
ORPHA:650 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentration, Hypertriglycerid... |
ORPHA:567548 |
Renal Tubular Acidosis Iii |
|
Hypokalemia, Rickets, Osteomalacia |
OMIM:267200 |
Ataxia With Vitamin E Deficiency |
|
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:277460 |
Dysbetalipoproteinemia |
|
Xanthelasma, Increased LDL cholesterol concentration, Gout, Hypertriglyceridemia, Hypercholestero... |
ORPHA:412 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Hypermethioninemia, Abnorm... |
ORPHA:247598 |
Lipodystrophy, Familial Partial, Type 5 |
|
Increased C-peptide level, Hypertriglyceridemia |
OMIM:615238 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:209902 |
Tangier Disease |
|
Elevated circulating apolipoprotein A-II concentration, Decreased HDL cholesterol concentration, ... |
OMIM:205400 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Osteoporosis, Joint contracture, Hypertriglyceridemia |
OMIM:615381 |
Mandibuloacral Dysplasia |
|
Increased circulating free fatty acid level, Contractures of the large joints, Acroosteolysis of ... |
ORPHA:2457 |
Congenital Generalized Lipodystrophy |
|
Hypercholesterolemia, Increased C-peptide level, Bone cyst, Hypertriglyceridemia |
ORPHA:528 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration |
OMIM:208920 |
Immunodeficiency 114, Folate-Responsive |
|
Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:620603 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Delayed epiphyseal ossification, Rickets, Rickets of the lower limbs, Sparse bone trabeculae, Gen... |
OMIM:600785 |
Hyperlipoproteinemia, Type Id |
|
Increased circulating chylomicron concentration, Decreased HDL cholesterol concentration, Hyperli... |
OMIM:615947 |
Smith-Magenis Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:182290 |
Congenital Analbuminemia |
|
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia, Hypoproteinemia, Increased alpha-globulin |
ORPHA:86816 |
Citrullinemia Type Ii |
|
Hypoalbuminemia, Decreased HDL cholesterol concentration, Hyperlipidemia, Acute hyperammonemia, H... |
ORPHA:247585 |
Hypophosphatasia, Adult |
|
Rickets, Osteomalacia, Pathologic fracture, Increased susceptibility to fractures, Recurrent frac... |
OMIM:146300 |
Galactokinase Deficiency |
|
Hypercholesterolemia, Hypergalactosemia, Increased level of galactitol in plasma |
ORPHA:79237 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Elbow flexion contracture, Joint stiffness, Increased LDL cholesterol concentration, Decreased ce... |
ORPHA:98855 |
Lipodystrophy, Familial Partial, Type 3 |
|
Decreased HDL cholesterol concentration, Hyperuricemia, Hypertriglyceridemia |
OMIM:604367 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Steatorrhea, Hypocholesterolemia, Conjugated hyperbilirubinemia, Rickets |
OMIM:607765 |
Myopathy, X-Linked, With Excessive Autophagy |
|
Myotonia |
OMIM:310440 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hyperlipidemia, Hyperuricemia |
ORPHA:364 |
Cog4-Cdg |
|
Hypercholesterolemia |
ORPHA:263501 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hypoalbuminemia, Increased circulating ferritin concentration, Increased total bilirubin, Decreas... |
OMIM:267700 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hypertriglyceridemia |
ORPHA:363400 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Hypercholesterolemia, Joint hypermobility |
ORPHA:96184 |
Xp21 Deletion Syndrome |
|
Joint hypermobility, Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Os... |
ORPHA:261476 |
Werner Syndrome |
|
Osteoporosis, Elevated hemoglobin A1c, Reduced bone mineral density, Hypertriglyceridemia |
OMIM:277700 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Hypertriglyceridemia, Increased circulating ferritin concentration |
OMIM:618398 |
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy |
|
Myotonia |
ORPHA:209335 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Elbow flexion contracture, Joint stiffness, Increased LDL cholesterol concentration, Decreased ce... |
ORPHA:98863 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Hypoalbuminemia, Elevated circulating creatine kinase concentration, Hypercholesterolemia, Elevat... |
ORPHA:64753 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Elbow flexion contracture, Joint stiffness, Increased LDL cholesterol concentration, Decreased ce... |
ORPHA:98853 |
Emery-Dreifuss Muscular Dystrophy |
|
Elbow flexion contracture, Joint stiffness, Increased LDL cholesterol concentration, Decreased ce... |
ORPHA:261 |
Nephrotic Syndrome, Type 11 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:616730 |
Episodic Ataxia, Type 2 |
|
Myotonia |
OMIM:108500 |
Pancreatic Lipase Deficiency |
|
Steatorrhea, Hypocholesterolemia |
OMIM:614338 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Osteoporosis, Osteopenia, Hyperlipidemia |
ORPHA:369 |
Cholesteryl Ester Storage Disease |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia, Decreased HD... |
OMIM:278000 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Hypophosphatemia, Rickets, Hypocalcemia, Osteomalacia |
ORPHA:89937 |
Sitosterolemia 1 |
|
Hyperapobetalipoproteinemia, Xanthelasma, Reduced haptoglobin level, Elevated circulating sitoste... |
OMIM:210250 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Elevated circulating C-reactive protein concentration, Hyperbilirubinemia, Increased circulating ... |
ORPHA:158057 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia |
ORPHA:79085 |
Autosomal Recessive Axonal Neuropathy With Neuromyotonia |
|
Handgrip myotonia, Myotonia, Percussion-induced rapid rolling muscle contractions |
ORPHA:324442 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Increased circulating beta-C-terminal telopeptide concentration, Osteomalacia, Pathologic fractur... |
ORPHA:157215 |
Fanconi-Bickel Syndrome |
|
Osteopenia, Hypophosphatemia, Rickets, Hypertriglyceridemia |
ORPHA:2088 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbilir... |
OMIM:619662 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Osteopenia, Elbow flexion contracture, Joint stiffness, Hyperlipidemia, Acroosteolysis of distal ... |
OMIM:248370 |
Cholestasis-Lymphedema Syndrome |
|
Hyperlipidemia, Conjugated hyperbilirubinemia |
OMIM:214900 |
Fanconi Renotubular Syndrome 2 |
|
Osteopenia, Rickets, Osteomalacia, Hypophosphatemia, Recurrent fractures |
OMIM:613388 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Coarse metaphyseal trabecularization, Osteomalacia, Recurrent fractures, Hypocalcemia, Hypophosph... |
ORPHA:93160 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Delayed epiphyseal ossification, Rickets, Osteomalacia, Hypophosphatemic rickets, Sparse bone tra... |
OMIM:300554 |
Myofibrillar Myopathy 10 |
|
Percussion myotonia |
OMIM:619040 |
Myotonia Permanens |
|
Myotonia |
ORPHA:99735 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Delayed epiphyseal ossification, Rickets, Hypocalcemia, Sparse bone trabeculae, Hypophosphatemia,... |
OMIM:600081 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Hypokalemia, Rickets |
OMIM:602722 |
Smith-Magenis Syndrome |
|
Joint stiffness, Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:819 |
Focal Segmental Glomerulosclerosis 1 |
|
Hypoalbuminemia, Hyperlipidemia |
OMIM:603278 |
Fanconi Renotubular Syndrome 3 |
|
Elevated circulating creatinine concentration, Rickets |
OMIM:615605 |
Macrophage Activation Syndrome |
|
Hypoalbuminemia, Increased circulating ferritin concentration, Hypertriglyceridemia, Elevated cir... |
ORPHA:158061 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Osteopenia, Conjugated hyperbilirubinemia, Rickets |
OMIM:211600 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:610644 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Hypercholesterolemia |
ORPHA:401923 |
Richieri Costa-Da Silva Syndrome |
|
Handgrip myotonia, Myotonia of the upper limb |
ORPHA:3101 |
Megalocornea-Intellectual Disability Syndrome |
|
Osteopenia, Hypercholesterolemia, Joint hypermobility |
ORPHA:2479 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hyperlipidemia, Mildly elevated creatine kinase |
OMIM:604484 |
Glycogen Storage Disease Ixc |
|
Hypertriglyceridemia |
OMIM:613027 |
Episodic Ataxia Type 1 |
|
Myotonia |
ORPHA:37612 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Delayed epiphyseal ossification, Rickets, Hypophosphatemic rickets, Sparse bone trabeculae, Hypop... |
OMIM:241530 |
Glycogen Storage Disease Iii |
|
Hyperlipidemia, Elevated circulating creatine kinase concentration |
OMIM:232400 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Osteoporosis, Elevated circulating creatine kinase concentration, Hypercholesterolemia, Hypertrig... |
ORPHA:79240 |
Griscelli Syndrome Type 1 |
|
Hyperlipidemia |
ORPHA:79476 |
Cidec-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia |
ORPHA:435651 |
Zebra Body Myopathy |
|
Handgrip myotonia |
ORPHA:97240 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:619313 |
Lipe-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration |
ORPHA:435660 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Osteopenia, Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Osteoporosi... |
OMIM:613327 |
Reni Syndrome |
|
Hypoalbuminemia, Hypertriglyceridemia |
OMIM:617575 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Osteoporosis, Elevated circulating creatine kinase concentration, Hypercholesterolemia, Hypertrig... |
ORPHA:264580 |
Congenital Disorder Of Glycosylation, Type Iiaa |
|
Hypercholesterolemia, Hyperammonemia, Knee flexion contracture |
OMIM:620454 |
Lipodystrophy, Familial Partial, Type 6 |
|
Hyperlipidemia, Abnormal circulating lipid concentration, Elevated circulating creatine kinase co... |
OMIM:615980 |
Galloway-Mowat Syndrome 7 |
|
Hypercholesterolemia |
OMIM:618348 |
Fanconi Renotubular Syndrome 1 |
|
Hypokalemia, Hypophosphatemia, Rickets, Osteomalacia |
OMIM:134600 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypertriglyceridemia |
ORPHA:66628 |
Neuhauser Syndrome |
|
Osteopenia, Hypercholesterolemia |
OMIM:249310 |
Myotonic Dystrophy 1 |
|
Myotonia |
OMIM:160900 |
Lysinuric Protein Intolerance |
|
Osteopenia, Increased circulating ferritin concentration, Decreased HDL cholesterol concentration... |
ORPHA:470 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Myotonia |
ORPHA:391307 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypertriglyceridemia |
ORPHA:179494 |
Pparg-Related Familial Partial Lipodystrophy |
|
Hyperuricemia, Hypertriglyceridemia |
ORPHA:79083 |
Infantile Systemic Hyalinosis |
|
Osteopenia, Osteomalacia, Camptodactyly of finger, Joint stiffness, Increased susceptibility to f... |
ORPHA:2176 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Delayed epiphyseal ossification, Rickets, Hypocalcemia, Sparse bone trabeculae, Hypophosphatemia,... |
OMIM:264700 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Hypertriglyceridemia |
ORPHA:2348 |
Acquired Generalized Lipodystrophy |
|
Unicameral bone cyst, Abnormal circulating lipid concentration, Hypertriglyceridemia |
ORPHA:79086 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hypoalbuminemia, Increased total bilirubin, Increased circulating ferritin concentration, Hyponat... |
OMIM:603553 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hypokalemia, Rickets |
OMIM:611590 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Flexion contracture, Arthritis, Hypertriglyceridemia |
OMIM:617591 |
Cholestasis-Lymphedema Syndrome |
|
Reduced bone mineral density, Hyperlipidemia |
ORPHA:1414 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Rickets, Hyperbilirubinemia, Abnormal serum bile acid concentration, Steatorrhea, Conjugated hype... |
ORPHA:79303 |
Dent Disease 1 |
|
Delayed epiphyseal ossification, Rickets, Osteomalacia, Sparse bone trabeculae, Hypophosphatemia,... |
OMIM:300009 |
Vitamin D-Dependent Rickets, Type 2A |
|
Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypophosphatemia, Thin bony cor... |
OMIM:277440 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypophosphatemia, Hypophosphatemic rickets, Hypercalcemia, Rickets |
OMIM:612089 |
Microtriplication 11Q24.1 |
|
Limitation of joint mobility, Hyperlipidemia |
ORPHA:289522 |
Gaisböck Syndrome |
|
Gout, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Hyperproteinemia, Increased circ... |
ORPHA:90041 |
Myotonic Dystrophy 2 |
|
Handgrip myotonia, Myotonia |
OMIM:602668 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Rickets, Osteomalacia, Hypophosphatemic rickets, Hypophosphatemia, Osteoarthritis, Abnormal circu... |
OMIM:307800 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Hypoalbuminemia, Increased circulating ferritin concentration, Hypertriglyceridemia |
ORPHA:540 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hypercholesterolemia |
ORPHA:90065 |
Immunodeficiency 97 With Autoinflammation |
|
Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:619802 |
Familial Chylomicronemia Syndrome |
|
Hyperlipidemia, Increased circulating chylomicron concentration, Hypertriglyceridemia |
ORPHA:444490 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Osteopenia, Xanthelasma, Hyperlipidemia, Increased susceptibility to fractures, Hyperuricemia, Go... |
ORPHA:79259 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Abnormal circulating thyroglobulin concentration, Neonatal hyperbilirubinemia, Hypercholesterolem... |
ORPHA:90674 |
Primary Biliary Cholangitis |
|
Hypoalbuminemia, Abnormal circulating lipid concentration, Xanthelasma, Hypercholesterolemia, Ste... |
ORPHA:186 |
Prader-Willi Syndrome |
|
Osteopenia, Decreased HDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, ... |
OMIM:176270 |
Congenital-Onset Steinert Myotonic Dystrophy |
|
Myotonia |
ORPHA:589821 |
Spastic Paraplegia 79B, Autosomal Recessive |
|
Myotonia |
OMIM:615491 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hypouricemia, Hypophosphatemia, Rickets |
OMIM:616026 |
Fibrous Dysplasia Of Bone |
|
Rickets, Increased circulating cortisol level, Osteomalacia, Cortical irregularity, Pathologic fr... |
ORPHA:249 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Delayed epiphyseal ossification, Rickets, Osteomalacia, Hypocalcemia, Increased susceptibility to... |
ORPHA:289157 |
Low Phospholipid-Associated Cholelithiasis |
|
Hypercholesterolemia |
ORPHA:69663 |
Fanconi-Bickel Syndrome |
|
Hypouricemia, Rickets, Osteomalacia, Hyperbilirubinemia, Increased serum bile acid concentration,... |
OMIM:227810 |
Lipodystrophy, Familial Partial, Type 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:151660 |
H Syndrome |
|
Camptodactyly, Osteolysis, Recurrent fractures, Hypertriglyceridemia |
ORPHA:168569 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hyponatremia, Hypertriglyceridemia |
OMIM:618183 |
Hyperkalemic Periodic Paralysis |
|
Myotonia |
ORPHA:682 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Acroosteolysis of distal phalanges (feet), Osteolytic defects of the phalanges of the hand, Decre... |
ORPHA:280365 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Hyperlipidemia |
ORPHA:2089 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Abnormal circulating creatine kinase concentration, Hypertriglyceridemia |
ORPHA:98907 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Renal hypophosphatemia, Abnormal trabecular bone morphology, Pseudo-fractures, Osteomalacia, Rick... |
ORPHA:289176 |
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
EMG: myotonic runs |
ORPHA:353 |
Dermatosparaxis Ehlers-Danlos Syndrome |
|
Osteopenia, Rickets, Osteomalacia, Joint stiffness, Joint hypermobility, Osteoporosis |
ORPHA:1901 |
Cystinosis |
|
Hypokalemia, Hypophosphatemia, Rickets |
ORPHA:213 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Osteopenia, Joint hypermobility, Hypertriglyceridemia, Craniosynostosis, Hypercalcemia |
ORPHA:369837 |
Nephrotic Syndrome, Type 1 |
|
Hypoalbuminemia, Hyperlipidemia, Hypoproteinemia |
OMIM:256300 |
Lowe Oculocerebrorenal Syndrome |
|
Elevated amniotic fluid alpha-fetoprotein, Joint contracture of the hand, Rickets, Osteomalacia, ... |
OMIM:309000 |
Combined Deficiency Of Factor V And Factor Viii |
|
Joint hemorrhage, Hyperlipidemia, Hyperuricemia |
ORPHA:35909 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:363618 |
Glycerol Kinase Deficiency |
|
Pathologic fracture, Hyperglycerolemia, Osteoporosis, Hypertriglyceridemia |
OMIM:307030 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Osteopenia, Abnormal circulating lipid concentration, Pathologic fracture, Increased LDL choleste... |
ORPHA:77293 |
Mccune-Albright Syndrome |
|
Aneurysmal bone cyst, Increased circulating cortisol level, Osteomalacia, Monostotic fibrous dysp... |
ORPHA:562 |
Lysosomal Acid Lipase Deficiency |
|
Xanthelasma, Hyponatremia, Hypercholesterolemia, Hypertriglyceridemia, Steatorrhea, Hyperkalemia |
ORPHA:275761 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Joint hypermobility, Osteopenia, Hypertriglyceridemia |
ORPHA:536532 |
Schwartz-Jampel Syndrome, Type 1 |
|
Percussion myotonia |
OMIM:255800 |
Seckel Syndrome 10 |
|
Elevated hemoglobin A1c, Hypertriglyceridemia |
OMIM:617253 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Osteoporosis, Rickets |
OMIM:560000 |
Dent Disease |
|
Renal hypophosphatemia, Delayed epiphyseal ossification, Rickets, Osteomalacia, Sparse bone trabe... |
ORPHA:1652 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Steatorrhea, Osteoporosis, Rickets, Osteomalacia |
ORPHA:309031 |
Immunodeficiency 47 |
|
Decreased circulating copper concentration, Hypercholesterolemia, Joint hypermobility |
OMIM:300972 |
Tangier Disease |
|
Hypocholesterolemia, Hypertriglyceridemia |
ORPHA:31150 |
Griscelli Syndrome Type 2 |
|
Hyperlipidemia |
ORPHA:79477 |
Alstrom Syndrome |
|
Hypertriglyceridemia, Hyperuricemia, Decreased HDL cholesterol concentration, Elevated hemoglobin... |
OMIM:203800 |
Methanol Poisoning |
|
Hyperlipidemia |
ORPHA:31825 |
Bardet-Biedl Syndrome 20 |
|
Hypercholesterolemia |
OMIM:619471 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Limitation of joint mobility, Hyperlipidemia, Acroosteolysis of distal phalanges (feet), Osteolyt... |
ORPHA:90153 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 23 |
|
Percussion myotonia |
OMIM:620275 |
Neutral Lipid Storage Disease With Myopathy |
|
Elevated circulating creatine kinase concentration, Hypertriglyceridemia |
OMIM:610717 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypermagnesemia, Hypophosphatemia, Hypercalcemia, Osteomalacia |
OMIM:600740 |
Celiac Disease, Susceptibility To, 1 |
|
Steatorrhea, Osteoporosis, Rickets, Hypocalcemia |
OMIM:212750 |
Hemophagocytic Syndrome Associated With An Infection |
|
Hyperproteinemia, Increased circulating ferritin concentration, Hypertriglyceridemia |
ORPHA:158048 |
Oculocerebrorenal Syndrome Of Lowe |
|
Osteomalacia, Hyperaldosteronism, Joint stiffness, Joint hypermobility, Hyponatremia, Hypokalemia... |
ORPHA:534 |
X-Linked Hypophosphatemia |
|
Limitation of joint mobility, Rickets, Hypophosphatemia, Generalized osteosclerosis, Arthritis, E... |
ORPHA:89936 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Hyperlipidemia, Acroosteolysis of distal phalanges (feet), Calcinosis, Osteolytic defects of the ... |
ORPHA:90154 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Osteopenia, Joint stiffness, Osteolytic defects of the phalanges of the hand, Hypertriglyceridemi... |
OMIM:619127 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Hyperlipidemia, Acroosteolysis of distal phalanges (feet), Osteolytic defects of the distal phala... |
OMIM:608612 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Joint hypermobility, Hypertriglyceridemia |
OMIM:619418 |
19P13.12 Microdeletion Syndrome |
|
Craniosynostosis, Arthrogryposis multiplex congenita, Hyperlipidemia |
ORPHA:254346 |
Glycogen Storage Disease Ia |
|
Xanthelasma, Gout, Hyperlipidemia, Hyperuricemia, Osteoporosis |
OMIM:232200 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased circulating cortisol level, Hyperaldosteronism, Hyperlipidemia, Increased susceptibilit... |
ORPHA:189427 |
Chédiak-Higashi Syndrome |
|
Hyponatremia, Hypoproteinemia, Increased circulating ferritin concentration, Hypertriglyceridemia |
ORPHA:167 |
Idiopathic Camptocormia |
|
Myotonia |
ORPHA:1320 |
Stuve-Wiedemann Syndrome 1 |
|
Myotonia |
OMIM:601559 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Rickets, Recurrent fractures |
OMIM:268315 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Handgrip myotonia |
ORPHA:438216 |
Neu-Laxova Syndrome |
|
Osteopenia, Rickets, Osteomalacia, Osteoporosis, Flexion contracture, Arthrogryposis multiplex co... |
ORPHA:2671 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Elevated hemoglobin A1c, Cystic angiomatosis of bone, Hypertriglyceridemia |
OMIM:269700 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Cystic angiomatosis of bone, Hypertriglyceridemia |
OMIM:608594 |
Atypical Werner Syndrome |
|
Limitation of joint mobility, Sclerosis of hand bone, Osteolytic defects of the phalanges of the ... |
ORPHA:79474 |
Primary Fanconi Renotubular Syndrome |
|
Hypouricemia, Decreased circulating carnitine concentration, Osteomalacia, Hypophosphatemic ricke... |
ORPHA:3337 |
Neutral Lipid Storage Myopathy |
|
Abnormal circulating creatine kinase concentration, Hypertriglyceridemia |
ORPHA:98908 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Rickets |
OMIM:219900 |
Aromatase Deficiency |
|
Delayed epiphyseal ossification, Osteopenia, Hyperlipidemia, Osteoporosis |
ORPHA:91 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Camptodactyly of finger, Elbow flexion contracture, Hypertriglyceridemia, Flexion contracture of ... |
OMIM:256040 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Elevated circulating creatinine concentration, Hyperlipidemia, Increased blood urea nitrogen |
OMIM:235400 |
Alagille Syndrome 1 |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:118450 |
Glycogen Storage Disease Ib |
|
Xanthelasma, Gout, Hyperlipidemia, Hyperuricemia, Osteoporosis |
OMIM:232220 |
Immunodeficiency 87 And Autoimmunity |
|
Elevated circulating C-reactive protein concentration, Hypokalemia, Hypertriglyceridemia |
OMIM:619573 |
Distal Renal Tubular Acidosis |
|
Rickets, Osteomalacia, Increased susceptibility to fractures, Hypokalemia, Reduced bone mineral d... |
ORPHA:18 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Elevated circulating acylcarnitine concentration, Decreased plasma free carnitine, Hyperlipidemia... |
ORPHA:157 |
Familial Hypocalciuric Hypercalcemia |
|
Renal hypophosphatemia, Hypermagnesemia, Osteomalacia, Hypocalcemic seizures, Hypercalcemia |
ORPHA:405 |
Schwartz-Jampel Syndrome |
|
Myotonia |
ORPHA:800 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Hypoalbuminemia, Osteopenia, Rickets, Hypocalcemia, Joint hypermobility, Thin bony cortex, Unconj... |
OMIM:613658 |
Infantile Nephropathic Cystinosis |
|
Hypokalemia, Abnormal blood ion concentration, Hypophosphatemia, Rickets |
ORPHA:411629 |
Familial Multiple Lipomatosis |
|
Hyperlipidemia |
ORPHA:199276 |
Aapoaiv Amyloidosis |
|
Elevated circulating creatinine concentration, Hyperlipidemia |
ORPHA:439232 |
Wilson Disease |
|
Hypouricemia, Hypoalbuminemia, Osteomalacia, Hyperbilirubinemia, Increased circulating copper con... |
OMIM:277900 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Elevated circulating acylcarnitine concentration, Decreased plasma free carnitine, Hyperlipidemia... |
ORPHA:228308 |
Lipodystrophy, Familial Partial, Type 7 |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:606721 |
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
EMG: myotonic runs |
ORPHA:206549 |
Schimke Immuno-Osseous Dysplasia |
|
Hyperlipidemia |
ORPHA:1830 |
Parenteral Nutrition-Associated Cholestasis |
|
Hyperlipidemia, Conjugated hyperbilirubinemia, Abnormal circulating fatty-acid concentration |
ORPHA:567983 |
Steinert Myotonic Dystrophy |
|
Hypercholesterolemia |
ORPHA:273 |
Bardet-Biedl Syndrome |
|
Joint hypermobility, Hypertriglyceridemia, Decreased HDL cholesterol concentration |
ORPHA:110 |
Cystinosis, Nephropathic |
|
Decreased circulating carnitine concentration, Rickets, Hypomagnesemia, Hypophosphatemic rickets,... |
OMIM:219800 |
Occipital Horn Syndrome |
|
Synostosis of joints, Osteopenia, Rickets, Osteomalacia, Joint hypermobility, Osteoporosis, Osteo... |
ORPHA:198 |
Wiedemann-Rautenstrauch Syndrome |
|
Osteopenia, Camptodactyly of finger, Joint hypermobility, Synovitis, Hypertriglyceridemia |
ORPHA:3455 |
Wiedemann-Rautenstrauch Syndrome |
|
Flexion contracture, Hypertriglyceridemia |
OMIM:264090 |
Glycogen Storage Disease Ic |
|
Xanthelasma, Gout, Hyperlipidemia, Hyperuricemia |
OMIM:232240 |
Hypomagnesemia 3, Renal |
|
Increased circulating beta-C-terminal telopeptide concentration, Hyperphosphatemia, Rickets, Hypo... |
OMIM:248250 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Hypoalbuminemia, Osteopenia, Increased circulating ferritin concentration, Elevated circulating c... |
OMIM:619534 |
Homozygous Familial Hypercholesterolemia |
|
Hyperlipidemia, Increased LDL cholesterol concentration, Hypercholesterolemia |
ORPHA:391665 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Hypoalbuminemia, Hyperlipidemia |
ORPHA:567546 |
Immunodeficiency 82 With Systemic Inflammation |
|
Hypoalbuminemia, Osteomalacia, Osteomyelitis, Arthritis, Elevated circulating C-reactive protein ... |
OMIM:619381 |
Fabry Disease |
|
Reduced bone mineral density, Hyperlipidemia, Arthritis, Abnormal circulating lipid concentration |
ORPHA:324 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Osteopenia, Rickets, Osteomalacia, Osteoporosis, Abnormally ossified vertebrae |
ORPHA:2636 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Hyperlipidemia, Elevated circulating creatine kinase concentration |
ORPHA:565612 |
Woodhouse-Sakati Syndrome |
|
Osteopenia, Hyperlipidemia |
ORPHA:3464 |
Woodhouse-Sakati Syndrome |
|
Hyperlipidemia |
OMIM:241080 |
Generalized Arterial Calcification Of Infancy |
|
Abnormal calcification of the carpal bones, Hypophosphatemic rickets, Fused cervical vertebrae, O... |
ORPHA:51608 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyponatremia, Hyperlipidemia |
ORPHA:293987 |
Alström Syndrome |
|
Hyperostosis frontalis interna, Hyperlipidemia, Hypertriglyceridemia |
ORPHA:64 |