Superior Transverse Scapular Ligament, Calcification Of, Familial |
|
Ectopic ossification in ligament tissue |
OMIM:601708 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Anemia, Elevated transferrin saturation, Sideroblastic anemia, Decreased mean corpuscular volume,... |
OMIM:205950 |
Hypertriglyceridemia 2 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:619324 |
Atherosclerosis Susceptibility |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:108725 |
Melorheostosis With Osteopoikilosis |
|
Abnormal cortical bone morphology, Osteopoikilosis |
ORPHA:1879 |
Hemoglobin D Disease |
|
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... |
ORPHA:90039 |
Osteomesopyknosis |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2777 |
Hyperostosis Corticalis Generalisata |
|
Cranial hyperostosis, Abnormal cortical bone morphology, Generalized osteosclerosis |
ORPHA:3416 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Thrombocytopenia, Increased mean corpuscular volume |
OMIM:252270 |
Gnathodiaphyseal Dysplasia |
|
Thickened cortex of long bones, Mandibular osteomyelitis, Osteopenia, Recurrent fractures |
ORPHA:53697 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Anemia, Erythroid hyperplasia, Decreased mean corpuscular volume, Elevated hepatic iron concentra... |
OMIM:206100 |
Diamond-Blackfan Anemia 3 |
|
Reticulocytopenia, Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular vol... |
OMIM:610629 |
Fish-Eye Disease |
|
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Hypertriglyceri... |
OMIM:136120 |
Intrinsic Factor Deficiency |
|
Reduced haptoglobin level, Megaloblastic anemia, Increased RBC distribution width, Increased mean... |
OMIM:261000 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular hemoglobin concentration, Hemolytic anemia, Anisopoikilocytosis, Hyper... |
OMIM:616689 |
Endosteal Hyperostosis, Worth Type |
|
Clavicular sclerosis, Craniofacial hyperostosis, Abnormal cortical bone morphology, Generalized o... |
ORPHA:2790 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Anemia, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Hypertriglyceridemia |
OMIM:608898 |
Familial Pseudohyperkalemia |
|
Stomatocytosis, Hyperkalemia, Reticulocytosis, Episodic hemolytic anemia, Increased mean corpuscu... |
ORPHA:90044 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Anemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia... |
OMIM:619041 |
Ghosal Hematodiaphyseal Dysplasia |
|
Anemia, Craniofacial hyperostosis, Abnormal cortical bone morphology, Splenomegaly |
ORPHA:1802 |
Mazabraud Syndrome |
|
Fibrous dysplasia of the bones, Recurrent fractures |
ORPHA:57782 |
Sclerosteosis |
|
Increased bone mineral density, Craniofacial hyperostosis, Abnormal cortical bone morphology |
ORPHA:3152 |
Hemoglobin E Disease |
|
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Hypochromi... |
ORPHA:2133 |
Osteopenia And Sparse Hair |
|
Joint laxity, Osteopenia |
OMIM:259690 |
Osteochondrosis Of The Metatarsal Bone |
|
Arthritis, Sclerosis of foot bone, Joint stiffness, Thickened cortex of bones |
ORPHA:564003 |
Hypercholesterolemia, Familial, 4 |
|
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:603813 |
Papular Xanthoma |
|
Histiocytosis, Hyperlipidemia |
ORPHA:158008 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:144300 |
Familial Expansile Osteolysis |
|
Thin bony cortex, Pathologic fracture, Osteolysis |
OMIM:174810 |
Dysplastic Cortical Hyperostosis |
|
Increased bone mineral density, Abnormal cortical bone morphology, Splenomegaly |
ORPHA:2204 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Increased circulating ferritin concentration, Abnormal hemoglobin |
ORPHA:231249 |
Dentin Dysplasia With Sclerotic Bones |
|
Cortical sclerosis |
OMIM:125440 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hypertriglyceridemia, Splenomegaly |
OMIM:619175 |
12q14 microdeletion syndrome |
|
Osteopoikilosis |
DECIPHER:76 |
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hemolytic anemia, Normochromic anemia |
OMIM:245900 |
Van Buchem Disease |
|
Thickened cortex of long bones, Increased bone mineral density, Cranial hyperostosis |
OMIM:239100 |
Osteomesopyknosis |
|
Increased bone mineral density |
OMIM:166450 |
Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
T-cell acute lymphoblastic leukemias, Pancytopenia, Increased mean corpuscular volume |
OMIM:620044 |
Glycogen Storage Disease Vi |
|
Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia |
OMIM:232700 |
Sickle Cell Anemia |
|
Hemolytic anemia, Unconjugated hyperbilirubinemia, Reticulocytosis, Persistence of hemoglobin F, ... |
ORPHA:232 |
Dehydrated Hereditary Stomatocytosis |
|
Increased total bilirubin, Increased mean corpuscular hemoglobin concentration, Congenital hemoly... |
ORPHA:3202 |
Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Osteolysis, Foot acroosteolysis, Abnormal cortical bone morphology, Reduced bone mineral density |
ORPHA:970 |
Caffey Disease |
|
Joint hypermobility, Cortical irregularity, Subperiosteal bone formation, Calvarial hyperostosis,... |
OMIM:114000 |
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Pathologic fracture, Abnormal cortical bone morphology, Limitation of joint mobility |
ORPHA:166277 |
Pyknoachondrogenesis |
|
Increased bone mineral density |
OMIM:265880 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypertriglyceridemia |
ORPHA:366 |
Diamond-Blackfan Anemia 8 |
|
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia |
OMIM:612563 |
Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Hemolytic anemia, Abnormal mean corpuscular volume, Decreased mean corpuscular he... |
ORPHA:3203 |
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia |
|
Osteopenia, Osteoporosis |
OMIM:615269 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Anemia, Increased total iron binding capacity, Hyperbilirubinemia, Poikilocytosis, Abnormal eryth... |
ORPHA:98870 |
Elliptocytosis 3 |
|
Decreased mean corpuscular volume, Elliptocytosis, Chronic hemolytic anemia, Pyropoikilocytosis |
OMIM:617948 |
Caffey Disease |
|
Calvarial hyperostosis, Periosteal thickening of long tubular bones, Cortical irregularity, Corti... |
ORPHA:1310 |
Cranio-Osteoarthropathy |
|
Arthritis, Joint stiffness, Abnormal cortical bone morphology, Osteoarthritis |
ORPHA:1525 |
Osteoporosis |
|
Osteoporosis |
OMIM:166710 |
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
|
Increased bone mineral density |
ORPHA:75325 |
Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Anemia, Increased LDL cholesterol concentration, Decreased HDL cholestero... |
OMIM:607616 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Increased mean corpuscular volume, Elevated red cell adenosine deaminase level, Macrocytic anemia... |
OMIM:300946 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Increased HDL cholesterol concentration, Hyperlipoproteinemia, Hyperlipidemia, Hypercholesterolem... |
ORPHA:79506 |
Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Increased bone mineral density, Ectopic ossification |
OMIM:602475 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Metacarpal diaphyseal endosteal sclerosis, Thickened cortex of long bones, Clavicular sclerosis, ... |
OMIM:144750 |
Pyle Disease |
|
Limited elbow extension, Thin bony cortex, Reduced bone mineral density |
OMIM:265900 |
Hyperlipoproteinemia, Type Iv |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration |
OMIM:144600 |
Hypertriglyceridemia 1 |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration |
OMIM:145750 |
Osteopoikilosis And Dacryocystitis |
|
Osteopoikilosis |
OMIM:166705 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Anemia, Erythroid hyperplasia, Hepatosplenomegaly, Decreased mean corpuscular volume, Anisocytosi... |
OMIM:616860 |
Glutathione Peroxidase Deficiency |
|
Compensated hemolytic anemia, Neonatal hyperbilirubinemia, Heinz bodies |
OMIM:614164 |
Osteogenesis Imperfecta, Type Xxii |
|
Thin bony cortex, Multiple prenatal fractures, Recurrent fractures, Reduced bone mineral density |
OMIM:619795 |
Bone Marrow Failure Syndrome 6 |
|
Anemia, Lymphopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia |
OMIM:618849 |
Melorheostosis, Isolated |
|
Increased bone mineral density, Hyperostosis |
OMIM:155950 |
Oslam Syndrome |
|
Increased mean corpuscular volume, Abnormality of neutrophils |
ORPHA:2760 |
Dentin Dysplasia |
|
Increased bone mineral density |
ORPHA:1653 |
Autosomal Recessive Primary Microcephaly |
|
Abnormal cortical bone morphology |
ORPHA:2512 |
Osteopetrosis, Autosomal Dominant 1 |
|
Thickened cortex of long bones, Osteopetrosis, Generalized osteosclerosis, Calvarial osteosclerosis |
OMIM:607634 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Anemia, Elevated transferrin saturation, Poikilocytosis, Decreased mean corpuscular volume, Incre... |
OMIM:615234 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Anemia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hemophagocytosis, Thr... |
OMIM:603552 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Thin bony cortex, Generalized bone demineralization, Rickets of the lower limbs, Sparse bone trab... |
OMIM:600785 |
Metatropic Dysplasia |
|
Camptodactyly of finger, Abnormal enchondral ossification, Coarse metaphyseal trabecularization, ... |
ORPHA:2635 |
Gnathodiaphyseal Dysplasia |
|
Increased susceptibility to fractures, Osteomyelitis, Osteopenia, Diaphyseal cortical sclerosis |
OMIM:166260 |
Osteoporosis, Juvenile |
|
Osteoporosis |
OMIM:259750 |
Eiken Syndrome |
|
Thin bony cortex, Abnormal bone ossification, Abnormal trabecular bone morphology, Limited hip mo... |
ORPHA:79106 |
Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
Proteus Syndrome |
|
Thin bony cortex, Facial hyperostosis, Calvarial hyperostosis, Splenomegaly, Mandibular hyperostosis |
OMIM:176920 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Abnormal cortical bone morphology, Recurrent fractures, Limitation of joint mobility |
ORPHA:1486 |
Morbid Obesity And Spermatogenic Failure |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Decreased HDL cholesterol concentr... |
OMIM:615703 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Anemia, Hepatosplenomegaly, Increased circulating ferritin concentration, Hemophagocytosis, Throm... |
OMIM:613101 |
Lipase Deficiency, Combined |
|
Hypertriglyceridemia |
OMIM:246650 |
Distal Osteosclerosis |
|
Diaphyseal sclerosis, Craniofacial osteosclerosis, Hyperostosis |
OMIM:126250 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia |
OMIM:610947 |
Grant Syndrome |
|
Joint hyperflexibility, Abnormal cortical bone morphology, Decreased skull ossification |
ORPHA:2097 |
Ck Syndrome |
|
Abnormal cortical bone morphology, Joint hypermobility |
OMIM:300831 |
Hip Dysplasia, Beukes Type |
|
Osteoarthritis, Abnormal bone ossification, Abnormality of bone mineral density, Abnormal ossific... |
ORPHA:2114 |
Osteosclerosis With Ichthyosis And Fractures |
|
Increased bone mineral density, Cortical thickening of long bone diaphyses, Recurrent fractures |
OMIM:166740 |
Gorham-Stout Disease |
|
Abnormal bone ossification, Osteomyelitis, Osteolysis involving bones of the upper limbs, Osteoly... |
ORPHA:73 |
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency |
|
Hypertriglyceridemia, Increased HDL cholesterol concentration |
ORPHA:140905 |
Protoporphyria, Erythropoietic, 1 |
|
Hypertriglyceridemia, Hemolytic anemia |
OMIM:177000 |
Hypertriglyceridemia, Transient Infantile |
|
Hypertriglyceridemia, Splenomegaly |
OMIM:614480 |
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... |
OMIM:616516 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Anemia, Pancytopenia, Increased circulating ferritin concentration, Hemophagocytosis, Hypertrigly... |
OMIM:618398 |
Hypobetalipoproteinemia, Familial, 1 |
|
Decreased LDL cholesterol concentration, Steatorrhea, Decreased HDL cholesterol concentration, Hy... |
OMIM:615558 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Hypertriglyceridemia |
OMIM:618010 |
Hyperlipidemia, Familial Combined, 3 |
|
Hypercholesterolemia, Increased VLDL cholesterol concentration, Elevated circulating apolipoprote... |
OMIM:144250 |
Dacryocystitis-Osteopoikilosis Syndrome |
|
Increased bone mineral density, Osteopoikilosis |
ORPHA:1562 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia, Pancytopenia |
OMIM:613839 |
Glycogen Storage Disease Ixa1 |
|
Hypertriglyceridemia, Hyperuricemia, Splenomegaly, Hypercholesterolemia |
OMIM:306000 |
Focal Segmental Glomerulosclerosis 1 |
|
Anemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:603278 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Rickets, Increased bone mineral density, Hypophosphatemic rickets, Craniosynostosis |
OMIM:241520 |
Angioosteohypotrophic Syndrome |
|
Abnormal trabecular bone morphology, Thin bony cortex |
ORPHA:75508 |
Intermediate Osteopetrosis |
|
Increased susceptibility to fractures, Anemia, Osteomyelitis, Recurrent fractures, Generalized os... |
ORPHA:210110 |
Delta-Beta-Thalassemia |
|
Anemia, Abnormal hemoglobin, Microcytic anemia |
ORPHA:231237 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Megaloblastic anemia, Methylmalonic acidemia, Hyperhomocystinemia, Hypomethioninemia, Increased m... |
OMIM:277410 |
Diamond-Blackfan Anemia 6 |
|
Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F |
OMIM:612561 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Decreased HDL cholesterol concentr... |
OMIM:618620 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Pancytopenia, Increased circulating ferritin concentration, Hemophagocytosis, Aplastic anemia, Hy... |
OMIM:300635 |
Osteogenesis Imperfecta, Type Xviii |
|
Thin bony cortex, Recurrent fractures, Joint laxity, Joint hypermobility, Generalized osteoporosis |
OMIM:617952 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Diaphyseal sclerosis, Craniofacial osteosclerosis, Craniofacial hyperostosis, Cortical sclerosis |
OMIM:122860 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Hypertriglyceridemia |
ORPHA:436182 |
Majeed Syndrome |
|
Erythroid hyperplasia, Hepatosplenomegaly, Decreased mean corpuscular volume, Anemia of inadequat... |
OMIM:609628 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Anemia, Dysplastic erythropoesis, Reticulocytopenia, Anisopoikilocytosis, Decreased transferrin s... |
ORPHA:300298 |
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia |
|
Osteoporosis, Osteopenia |
OMIM:615270 |
Methylcobalamin Deficiency Type Cble |
|
Hyperhomocystinemia, Hypomethioninemia, Pancytopenia, Macrocytic anemia, Increased mean corpuscul... |
ORPHA:2169 |
Cholesteryl Ester Storage Disease |
|
Hypertriglyceridemia, Splenomegaly, Hypercholesterolemia |
ORPHA:75234 |
Apolipoprotein C-Ii Deficiency |
|
Decreased circulating apolipoprotein C-II concentration, Hypercholesterolemia, Increased circulat... |
OMIM:207750 |
Iron-Refractory Iron Deficiency Anemia |
|
Hypochromic microcytic anemia, Anisocytosis, Elevated circulating hepcidin concentration, Poikilo... |
OMIM:206200 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Anemia, Reduced natural killer cell count, Hypertriglyceridemia, Hyperbil... |
ORPHA:158057 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatosplenomegaly, Hypercholesterolemia, Hypocalcemia, Hypertriglyceridemia, Splenomegaly |
OMIM:612526 |
Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Thin bony cortex |
OMIM:619638 |
Neutral Lipid Storage Disease With Myopathy |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration |
OMIM:610717 |
Weismann-Netter Syndrome |
|
Anemia, Abnormal cortical bone morphology |
ORPHA:3344 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hypertriglyceridemia |
OMIM:615924 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Anisocytosis, Anemia of inadequate production, Oval macrocytosis, Poikilocytosis |
OMIM:603529 |
Lcat Deficiency |
|
Decreased circulating apolipoprotein A-I concentration, Hypertriglyceridemia, Decreased HDL chole... |
ORPHA:650 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Thin bony cortex, Recurrent fractures, Sparse bone trabeculae, Rickets, Delayed epiphyseal ossifi... |
OMIM:600081 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Thin bony cortex, Recurrent fractures, Osteomalacia, Sparse bone trabeculae, Rickets, Hypophospha... |
OMIM:300554 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertriglyceridemia |
ORPHA:71529 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hemolytic anemia, Hypokalemia, Reticulocytosis, Hepatosplenomegaly, Decreased mean corpuscular vo... |
OMIM:611590 |
Body Mass Index Quantitative Trait Locus 19 |
|
Hypertriglyceridemia, Hyperlipidemia |
OMIM:617885 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Anemia, Elliptocytosis, Decreased serum iron, Poikilocytosis, Decreased mean corpuscular volume, ... |
OMIM:616959 |
Ghosal Hematodiaphyseal Dysplasia |
|
Leukopenia, Hyperostosis cranialis interna, Increased bone mineral density, Myelofibrosis, Refrac... |
OMIM:231095 |
Refractory Anemia With Excess Blasts |
|
Abnormal circulating albumin concentration, Acute myeloid leukemia, Abnormal mean corpuscular vol... |
ORPHA:86839 |
Body Mass Index Quantitative Trait Locus 20 |
|
Increased bone mineral density |
OMIM:618406 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Increased total bilirubin, Leukopenia, Anemia, Increased VLDL cholesterol concentration, Increase... |
OMIM:267700 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Thin bony cortex, Recurrent fractures, Sparse bone trabeculae, Rickets, Hypophosphatemic rickets,... |
OMIM:241530 |
Immunodeficiency 96 |
|
Increased mean corpuscular volume, Increased proportion of gamma-delta T cells |
OMIM:619774 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Thin bony cortex, Increased bone mineral density, Osteopenia |
ORPHA:85184 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Thin bony cortex, Increased bone mineral density, Coarse metaphyseal trabecularization, Sclerosis... |
ORPHA:85188 |
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Stomatocytosis, Hemolytic anemia, Hyperbilirubinemia, Erythroid hyperplasia, Reticulocytosis |
OMIM:301083 |
Macrophage Activation Syndrome |
|
Abnormal natural killer cell count, Anemia, Hypertriglyceridemia, Increased circulating ferritin ... |
ORPHA:158061 |
Shwachman-Diamond Syndrome |
|
Acute myeloid leukemia, Chronic neutropenia, Leukopenia, Anemia, Neutropenia, Hypoamylasemia, Imp... |
ORPHA:811 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypertriglyceridemia, Hypoalbuminemia, Microcytic anemia, Hepatosplenomegaly |
OMIM:619013 |
Immunodeficiency 97 With Autoinflammation |
|
Reduced natural killer cell count, Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T ... |
OMIM:619802 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Reduced natural killer cell count, Hypoplasia of the thymus, T lymphocytopenia, B lymphocytopenia... |
OMIM:619313 |
Dent Disease 1 |
|
Thin bony cortex, Recurrent fractures, Osteomalacia, Sparse bone trabeculae, Rickets, Delayed epi... |
OMIM:300009 |
Melnick-Needles Syndrome |
|
Osteolytic defects of the phalanges of the hand, Craniofacial hyperostosis, Abnormal cortical bon... |
ORPHA:2484 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia |
OMIM:615863 |
Diamond-Blackfan Anemia 7 |
|
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia |
OMIM:612562 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Leukopenia, Anemia, Lymphopenia, Increased mean corpuscular volume, Thrombocytopenia, Aplastic an... |
OMIM:127550 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Thin bony cortex, Recurrent fractures, Sparse bone trabeculae, Rickets, Delayed epiphyseal ossifi... |
OMIM:264700 |
Lipodystrophy, Familial Partial, Type 4 |
|
Hypertriglyceridemia |
OMIM:613877 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia |
ORPHA:280356 |
Lysosomal Acid Lipase Deficiency |
|
Leukopenia, Anemia, Hypersplenism, Steatorrhea, Hepatosplenomegaly, Increased LDL cholesterol con... |
OMIM:278000 |
Vitamin D-Dependent Rickets, Type 2A |
|
Thin bony cortex, Recurrent fractures, Sparse bone trabeculae, Rickets, Delayed epiphyseal ossifi... |
OMIM:277440 |
Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Osteoporosis, Osteopenia, Increased susceptibility to fractures |
OMIM:612287 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hyperlysinemia, Hyperthreoninemia, Hypermethioninemia, Hyperbilirubinemia, Hypertyrosinemia, Decr... |
OMIM:605814 |
Axial Osteomalacia |
|
Increased bone mineral density, Osteomalacia |
OMIM:109130 |
Hyperlipoproteinemia, Type I |
|
Lactescent serum, Hepatosplenomegaly, Hyperlipidemia, Hypercholesterolemia, Increased circulating... |
OMIM:238600 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Thin bony cortex, Increased susceptibility to fractures, Osteomalacia, Sparse bone trabeculae, Ri... |
ORPHA:289157 |
Tangier Disease |
|
Decreased HDL cholesterol concentration, Decreased circulating apolipoprotein A-I concentration, ... |
OMIM:205400 |
Pachydermoperiostosis |
|
Splenomegaly, Anemia, Osteomyelitis, Arthritis, Abnormal cortical bone morphology, Limitation of ... |
ORPHA:2796 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hyperlysinemia, Abnormal circulating lipid concentration, Hypergalactosemia, Hepatosplenomegaly, ... |
ORPHA:247598 |
Hyperlipoproteinemia, Type Id |
|
Decreased LDL cholesterol concentration, Hyperlipoproteinemia, Decreased HDL cholesterol concentr... |
OMIM:615947 |
Beta-Thalassemia Intermedia |
|
Abnormality of iron homeostasis, Increased HbA2 hemoglobin, Elevated hepatic iron concentration, ... |
ORPHA:231222 |
Chylomicron Retention Disease |
|
Hypocholesterolemia, Hypertriglyceridemia, Steatorrhea, Acanthocytosis |
ORPHA:71 |
Blackfan-Diamond Anemia |
|
Acute myeloid leukemia, Leukopenia, Reticulocytopenia, Pure red cell aplasia, Erythroid hypoplasi... |
ORPHA:124 |
Gm1-Gangliosidosis, Type Ii |
|
Thin bony cortex, Joint stiffness, Sea-blue histiocytosis, Splenomegaly |
OMIM:230600 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Abnormal cortical bone morphology |
OMIM:614886 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Increased total bilirubin, Leukopenia, Anemia, Pancytopenia, Hepatosplenomegaly, Increased circul... |
OMIM:603553 |
16Q24.3 Microdeletion Syndrome |
|
Increased mean corpuscular volume, Thrombocytopenia |
ORPHA:261250 |
Lipodystrophy, Familial Partial, Type 1 |
|
Hypertriglyceridemia |
OMIM:608600 |
Lipodystrophy, Familial Partial, Type 5 |
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Increased C-peptide level, Hypertriglyceridemia |
OMIM:615238 |
Citrullinemia, Type Ii, Adult-Onset |
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Hypertriglyceridemia, Hyperammonemia, Hyperargininemia, Elevated plasma citrulline |
OMIM:603471 |
Stüve-Wiedemann Syndrome |
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Camptodactyly of finger, Knee flexion contracture, Flexion contracture, Recurrent fractures, Elbo... |
ORPHA:3206 |
Akt2-Related Familial Partial Lipodystrophy |
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Hypertriglyceridemia, Hyperlipidemia |
ORPHA:79085 |
Elliptocytosis 2 |
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Elliptocytosis, Neonatal hyperbilirubinemia, Hemolytic anemia, Reticulocytosis |
OMIM:130600 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
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Thin bony cortex, Wrist flexion contracture, Hip contracture, Metatarsal osteolysis, Camptodactyl... |
OMIM:259600 |
Glycerol Kinase Deficiency |
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Hypertriglyceridemia |
OMIM:307030 |
Autosomal Recessive Hypophosphatemic Rickets |
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Osteomalacia, Abnormal trabecular bone morphology, Increased bone mineral density, Rickets of the... |
ORPHA:289176 |
Familial Osteodysplasia, Anderson Type |
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Increased susceptibility to fractures, Abnormal cortical bone morphology, Recurrent fractures |
ORPHA:2769 |
Fibrous Dysplasia Of Bone |
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Thin bony cortex, Osteomalacia, Rickets, Osteolysis, Cortical irregularity, Abnormal bone structu... |
ORPHA:249 |
Hemophagocytic Syndrome Associated With An Infection |
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Abnormal natural killer cell count, Abnormal T cell subset distribution, Anemia, Hyperproteinemia... |
ORPHA:158048 |
Familial Hemophagocytic Lymphohistiocytosis |
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Anemia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hemophagocytosis, Thr... |
ORPHA:540 |
Dominant Beta-Thalassemia |
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Abnormality of iron homeostasis, Hypersplenism, Reduced hemoglobin A, Decreased mean corpuscular ... |
ORPHA:231226 |
Temple Syndrome |
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Hypertriglyceridemia, Hypercholesterolemia |
OMIM:616222 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
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Abnormal circulating lipid concentration, Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterol... |
ORPHA:567548 |
Beta-Thalassemia Major |
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Abnormality of iron homeostasis, Hypersplenism, Reduced hemoglobin A, Anisopoikilocytosis, Decrea... |
ORPHA:231214 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
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Hypertriglyceridemia |
ORPHA:363400 |
Lipodystrophy, Familial Partial, Type 3 |
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Hypertriglyceridemia, Hyperuricemia, Decreased HDL cholesterol concentration |
OMIM:604367 |
Abdominal Obesity-Metabolic Syndrome 3 |
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Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:615812 |
Glycogen Storage Disease Ixc |
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Hypertriglyceridemia, Splenomegaly |
OMIM:613027 |
Smith-Magenis Syndrome |
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Hypertriglyceridemia, Hypercholesterolemia |
OMIM:182290 |
Dent Disease |
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Thin bony cortex, Recurrent fractures, Osteomalacia, Sparse bone trabeculae, Rickets, Delayed epi... |
ORPHA:1652 |
Citrullinemia Type Ii |
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Acute hyperammonemia, Hypoproteinemia, Decreased HDL cholesterol concentration, Hyperlipidemia, H... |
ORPHA:247585 |
Osteogenesis Imperfecta, Type X |
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Thin bony cortex, Generalized joint laxity, Joint laxity, Decreased calvarial ossification, Osteo... |
OMIM:613848 |
Cidec-Related Familial Partial Lipodystrophy |
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Hypertriglyceridemia, Hyperlipidemia |
ORPHA:435651 |
Lipe-Related Familial Partial Lipodystrophy |
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Hypertriglyceridemia, Hyperlipidemia, Elevated circulating creatine kinase concentration |
ORPHA:435660 |
Cholestasis-Lymphedema Syndrome |
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Conjugated hyperbilirubinemia, Splenomegaly, Hyperlipidemia |
OMIM:214900 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
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Anemia, Lymphopenia, Thrombocytopenia, Hypertriglyceridemia, Splenomegaly |
OMIM:617591 |
Ataxia With Vitamin E Deficiency |
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Increased LDL cholesterol concentration, Hypertriglyceridemia, Xanthelasma, Hypercholesterolemia |
OMIM:277460 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
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Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia |
ORPHA:209902 |
Nephrotic Syndrome, Type 14 |
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Hypertriglyceridemia, Lymphopenia, Hypoalbuminemia |
OMIM:617575 |
Lenz-Majewski Hyperostotic Dwarfism |
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Increased bone mineral density, Elbow ankylosis, Abnormal cortical bone morphology, Limitation of... |
ORPHA:2658 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
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Hemolytic anemia, Unconjugated hyperbilirubinemia, Elliptocytosis, Reticulocytosis, Hepatosplenom... |
OMIM:618278 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
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Thin bony cortex, Osteoporosis, Hyperextensibility of the finger joints, Recurrent fractures |
OMIM:309583 |
Obesity Due To Congenital Leptin Deficiency |
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Hypertriglyceridemia, Decreased proportion of CD4-positive helper T cells |
ORPHA:66628 |
Gaisböck Syndrome |
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Increased mean corpuscular hemoglobin concentration, Hyperproteinemia, Hyperuricemia, Increased r... |
ORPHA:90041 |
Obesity Due To Leptin Receptor Gene Deficiency |
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Hypertriglyceridemia, Decreased proportion of CD4-positive helper T cells |
ORPHA:179494 |
Dysbetalipoproteinemia |
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Hypercholesterolemia, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentr... |
ORPHA:412 |
Oculodentodigital Dysplasia |
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Camptodactyly of finger, Cranial hyperostosis, Abnormal cortical bone morphology, Hyperostosis |
ORPHA:2710 |
Congenital Generalized Lipodystrophy |
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Increased C-peptide level, Hypertriglyceridemia, Hypercholesterolemia |
ORPHA:528 |
Tangier Disease |
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Anemia, Hepatosplenomegaly, Hypocholesterolemia, Thrombocytopenia, Hypertriglyceridemia |
ORPHA:31150 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
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Anemia, Abnormal erythrocyte enzyme level, Elevated circulating creatine kinase concentration, Hy... |
ORPHA:264580 |
Faciocardiomelic Syndrome |
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Thin bony cortex, Osteopenia |
OMIM:612731 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
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Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... |
ORPHA:98855 |
Pparg-Related Familial Partial Lipodystrophy |
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Hypertriglyceridemia, Hyperuricemia, Splenomegaly |
ORPHA:79083 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
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Hyperuricemia, Hyperlipidemia |
ORPHA:364 |
Familial Partial Lipodystrophy, Dunnigan Type |
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Hypertriglyceridemia, Splenomegaly |
ORPHA:2348 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
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Anemia, Elevated circulating creatine kinase concentration, Hypercholesterolemia, Hypertriglyceri... |
ORPHA:79240 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
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Hypertriglyceridemia |
OMIM:615381 |
Chédiak-Higashi Syndrome |
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Anemia, Hypertriglyceridemia, Neutropenia, Pancytopenia, Hepatosplenomegaly, Increased circulatin... |
ORPHA:167 |
Smith-Magenis Syndrome |
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Hypertriglyceridemia, Hypercholesterolemia |
ORPHA:819 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
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Abnormal erythrocyte enzyme level, Elevated circulating creatine kinase concentration, Hyperchole... |
ORPHA:370 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
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Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... |
ORPHA:98863 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
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Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... |
ORPHA:98853 |
Emery-Dreifuss Muscular Dystrophy |
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Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... |
ORPHA:261 |
Mandibuloacral Dysplasia |
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Hypertriglyceridemia, Increased circulating free fatty acid level, Hypercholesterolemia |
ORPHA:2457 |
Mulibrey Nanism |
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Thickened cortex of long bones |
OMIM:253250 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
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Hyperlipidemia |
ORPHA:329249 |
Weill-Marchesani Syndrome 1 |
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Thin bony cortex, Joint stiffness |
OMIM:277600 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
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Microangiopathic hemolytic anemia, Reticulocytosis, Increased blood urea nitrogen, Schistocytosis... |
OMIM:235400 |
Griscelli Syndrome Type 2 |
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Pancytopenia, Hemophagocytosis, Hyperlipidemia, Neutropenia, Splenomegaly |
ORPHA:79477 |
Werner Syndrome |
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Hypertriglyceridemia, Elevated hemoglobin A1c |
OMIM:277700 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
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Hyperlipidemia, Mildly elevated creatine kinase |
OMIM:604484 |
Lysinuric Protein Intolerance |
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Leukopenia, Anemia, Hyperalaninemia, Hyperglycinemia, Hyperglutaminemia, Steatorrhea, Hepatosplen... |
ORPHA:470 |
Glycogen Storage Disease Iii |
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Hyperlipidemia, Elevated circulating creatine kinase concentration |
OMIM:232400 |
Castleman Disease |
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Decreased mean corpuscular volume, Thrombocytopenia, Elevated circulating C-reactive protein conc... |
ORPHA:160 |
Spondyloocular Syndrome |
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Thin bony cortex, Osteopenia |
OMIM:605822 |
Neutral Lipid Storage Disease With Ichthyosis |
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Abnormal circulating creatine kinase concentration, Hypertriglyceridemia, Abnormal granulocyte mo... |
ORPHA:98907 |
Lysosomal Acid Lipase Deficiency |
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Hypercholesterolemia, Anemia, Hypersplenism, Hyperkalemia, Steatorrhea, Hepatosplenomegaly, Bone-... |
ORPHA:275761 |
Lipodystrophy, Familial Partial, Type 6 |
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Abnormal circulating lipid concentration, Hyperlipidemia, Elevated circulating creatine kinase co... |
OMIM:615980 |
Eisenmenger Syndrome |
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Hyperuricemia, Hypochromic microcytic anemia, Abnormal B-type natriuretic peptide concentration, ... |
ORPHA:97214 |
Alstrom Syndrome |
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Hypertriglyceridemia, Hyperuricemia, Decreased HDL cholesterol concentration |
OMIM:203800 |
Griscelli Syndrome Type 1 |
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Hyperlipidemia |
ORPHA:79476 |
Familial Chylomicronemia Syndrome |
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Increased circulating chylomicron concentration, Hypertriglyceridemia, Hyperlipidemia, Hepatosple... |
ORPHA:444490 |
Osteogenesis Imperfecta |
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Increased susceptibility to fractures, Flexion contracture, Recurrent fractures, Abnormal cortica... |
ORPHA:666 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
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Hypertriglyceridemia, Hypercholesterolemia |
OMIM:610644 |
X-Linked Lymphoproliferative Disease |
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Increased B cell count, Reduced natural killer cell count, Hypertriglyceridemia, T lymphocytopeni... |
ORPHA:2442 |
Frank-Ter Haar Syndrome |
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Osteoporosis, Cortical irregularity, Camptodactyly, Osteopenia |
OMIM:249420 |
Kenny-Caffey Syndrome, Type 2 |
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Thickened cortex of long bones, Increased bone mineral density, Anemia |
OMIM:127000 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
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Thin bony cortex, Anemia, Joint laxity, Pancytopenia, Rickets, Osteopenia, Reduced bone mineral d... |
OMIM:613658 |
Xp21 Deletion Syndrome |
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Hypertriglyceridemia, Elevated circulating creatine kinase concentration |
ORPHA:261476 |
Fanconi-Bickel Syndrome |
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Hypophosphatemia, Hypertriglyceridemia |
ORPHA:2088 |
H Syndrome |
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Hypertriglyceridemia, Histiocytosis, Microcytic anemia, Hepatosplenomegaly |
ORPHA:168569 |
Diarrhea 10, Protein-Losing Enteropathy Type |
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Hyponatremia, Hypocalcemia, Hypertriglyceridemia, Hypomagnesemia, Hypoalbuminemia |
OMIM:618183 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Hypertriglyceridemia, Splenomegaly, Elevated circulating creatine kinase concentration |
OMIM:613327 |
Seckel Syndrome 10 |
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Hypertriglyceridemia, Elevated hemoglobin A1c |
OMIM:617253 |
Weill-Marchesani Syndrome 2 |
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Thin bony cortex, Elbow flexion contracture, Flexion contracture of toe, Joint stiffness |
OMIM:608328 |
Craniotubular Dysplasia, Ikegawa Type |
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Thin bony cortex, Sclerosis of skull base |
OMIM:619727 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
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Hypercholesterolemia, Chronic neutropenia, Anemia, Hyperuricemia, Abnormal myeloid leukocyte morp... |
ORPHA:79259 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
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Hypertriglyceridemia, Decreased HDL cholesterol concentration, Splenomegaly |
ORPHA:280365 |
Immunodeficiency 87 And Autoimmunity |
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Decreased CD4:CD8 ratio, Hemolytic anemia, Hypokalemia, Lymphopenia, Decreased proportion of CD4-... |
OMIM:619573 |
Acquired Generalized Lipodystrophy |
|
Abnormal circulating lipid concentration, Hypertriglyceridemia |
ORPHA:79086 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
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Abnormal circulating lipid concentration, Hypersplenism, Acute promyelocytic leukemia, Autoimmune... |
ORPHA:77293 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
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Anemia, Polysplenia, Accessory spleen, Hypertriglyceridemia, Splenomegaly |
OMIM:619418 |
Aspartylglucosaminuria |
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Arthritis, Joint stiffness, Abnormal cortical bone morphology, Splenomegaly |
ORPHA:93 |
Lipodystrophy, Familial Partial, Type 2 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:151660 |
Camptodactyly Syndrome, Guadalajara Type 3 |
|
Thickened cortex of long bones, Osteopenia |
ORPHA:488434 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypertriglyceridemia, Hypercalcemia |
ORPHA:369837 |
Nephrotic Syndrome, Type 1 |
|
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:256300 |
Congenital Analbuminemia |
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Increased alpha-globulin, Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia |
ORPHA:86816 |
Cholestasis-Lymphedema Syndrome |
|
Splenomegaly, Hyperlipidemia |
ORPHA:1414 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Hypertriglyceridemia |
ORPHA:536532 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Hypertriglyceridemia, Hypercholesterolemia |
ORPHA:363618 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Hyperlipidemia |
ORPHA:2089 |
Stuve-Wiedemann Syndrome 1 |
|
Knee flexion contracture, Elbow flexion contracture, Camptodactyly, Thickened cortex of long bone... |
OMIM:601559 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Decreased HDL cholesterol concentration, Elevated circulating C-reactive protein concentration, T... |
OMIM:256040 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Hypertriglyceridemia, Elevated hemoglobin A1c, Splenomegaly |
OMIM:269700 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Hypertriglyceridemia, Elevated hemoglobin A1c |
OMIM:619127 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Hypertriglyceridemia, Splenomegaly |
OMIM:608594 |
Neutral Lipid Storage Myopathy |
|
Abnormal circulating creatine kinase concentration, Hypertriglyceridemia |
ORPHA:98908 |
Combined Deficiency Of Factor V And Factor Viii |
|
Hyperuricemia, Hyperlipidemia |
ORPHA:35909 |
Alagille Syndrome 1 |
|
Hypertriglyceridemia, Hypercholesterolemia |
OMIM:118450 |
Primary Lipodystrophy |
|
Splenomegaly, Hyperlipidemia |
ORPHA:90970 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Elevated circulating acylcarnitine concentration, Decreased plasma free carnitine, Elevated circu... |
ORPHA:157 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Thickened cortex of long bones, Sclerosis of skull base, Increased density of long bones, Splenop... |
OMIM:269150 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Elevated circulating acylcarnitine concentration, Decreased plasma free carnitine, Elevated circu... |
ORPHA:228308 |
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia |
|
Increased circulating cortisol level, Paradoxical increased cortisol secretion on dexamethasone s... |
ORPHA:189427 |
Wiedemann-Rautenstrauch Syndrome |
|
Hypertriglyceridemia, Hypoplasia of the thymus |
OMIM:264090 |
Atypical Werner Syndrome |
|
Hypertriglyceridemia |
ORPHA:79474 |
Parenteral Nutrition-Associated Cholestasis |
|
Hyperlipidemia, Splenomegaly, Abnormal circulating fatty-acid concentration, Conjugated hyperbili... |
ORPHA:567983 |
Glycogen Storage Disease Ib |
|
Hyperuricemia, Hyperlipidemia, Xanthelasma, Neutropenia, Splenomegaly |
OMIM:232220 |
Lipodystrophy, Familial Partial, Type 7 |
|
Hypertriglyceridemia, Hypercholesterolemia |
OMIM:606721 |
Wiedemann-Rautenstrauch Syndrome |
|
Hypertriglyceridemia |
ORPHA:3455 |
Glycogen Storage Disease Ia |
|
Hyperuricemia, Hyperlipidemia, Xanthelasma |
OMIM:232200 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Vacuolated lymphocytes, Splenomegaly, Hyperlipidemia, Elevated circulating creatine kinase concen... |
ORPHA:565612 |
Glycogen Storage Disease Ic |
|
Hyperuricemia, Cyclic neutropenia, Hyperlipidemia, Xanthelasma |
OMIM:232240 |
17Q11 Microdeletion Syndrome |
|
Thickened cortex of long bones, Osteolysis, Osteoporosis, Osteopenia, Leukemia |
ORPHA:97685 |
Alström Syndrome |
|
Hypertriglyceridemia, Splenomegaly, Hyperlipidemia, Hepatosplenomegaly |
ORPHA:64 |
Homozygous Familial Hypercholesterolemia |
|
Increased LDL cholesterol concentration, Hyperlipidemia, Hypercholesterolemia |
ORPHA:391665 |