Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Increased circulating ferritin concentration, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis,... |
ORPHA:766 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
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Anemia of inadequate production, Anisocytosis, Oval macrocytosis, Poikilocytosis |
OMIM:603529 |
Iron-Refractory Iron Deficiency Anemia |
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Elevated hepcidin level, Anisocytosis, Hypochromic microcytic anemia, Poikilocytosis |
OMIM:206200 |
Cholesterol-Ester Transfer Protein Deficiency |
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Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi... |
ORPHA:79506 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
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Anemia of inadequate production, Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocy... |
ORPHA:67044 |
Hypertriglyceridemia 2 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:619324 |
Anemia, Congenital Dyserythropoietic, Type Ib |
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Anemia of inadequate production, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis, Reticulocyto... |
OMIM:615631 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
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Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... |
OMIM:300835 |
Anemia, Congenital Dyserythropoietic, Type Iv |
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Circulating nucleated red blood cells, Anemia of inadequate production, Hyperbilirubinemia, Splen... |
OMIM:613673 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
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Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Spl... |
OMIM:616860 |
Overhydrated Hereditary Stomatocytosis |
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Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co... |
ORPHA:3203 |
Anemia, Congenital Dyserythropoietic, Type Ia |
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Anemia of inadequate production, Hyperbilirubinemia, Splenomegaly, Small for gestational age, Ani... |
OMIM:224120 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
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Anisocytosis, Leukopenia, Erythroid hypoplasia, Macrocytic anemia, Thrombocytosis, Acute myeloid ... |
ORPHA:86841 |
Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
Glycogen Storage Disease Vi |
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Hypertriglyceridemia, Hyperlipidemia, Failure to thrive in infancy, Hypercholesterolemia |
OMIM:232700 |
Sitosterolemia 2 |
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Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
Coronary Artery Disease, Autosomal Dominant 2 |
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Hypertriglyceridemia, Hyperlipidemia, Osteoporosis, Hypercholesterolemia |
OMIM:610947 |
Congenital Dyserythropoietic Anemia Type Iii |
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Increased mean corpuscular volume, Hyperbilirubinemia, Anisocytosis, Poikilocytosis, Increased se... |
ORPHA:98870 |
Thyroid Hormone Metabolism, Abnormal, 2 |
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Hypercholesterolemia |
OMIM:619855 |
Coronary Artery Disease, Autosomal Dominant, 1 |
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Hypercholesterolemia |
OMIM:608320 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
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Decreased glucose-6-phosphate dehydrogenase level in blood, Leukocytosis, Splenomegaly, Heinz bod... |
OMIM:300908 |
Hyperlipoproteinemia, Type Ii, And Deafness |
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Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:144300 |
Rh Deficiency Syndrome |
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Hypochromia, Hyperbilirubinemia, Spherocytosis, Anisocytosis, Hepatosplenomegaly, Macrocytic anem... |
ORPHA:71275 |
Orotic Aciduria |
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Hypochromia, Failure to thrive, Folate-unresponsive megaloblastic anemia, Anisocytosis, Poikilocy... |
OMIM:258900 |
Hypercholesterolemia, Familial, 4 |
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Hypertriglyceridemia, Increased VLDL cholesterol concentration, Hypercholesterolemia |
OMIM:603813 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
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Decreased mean corpuscular volume, Anisocytosis, Decreased serum iron, Poikilocytosis, Elliptocyt... |
OMIM:616959 |
Morbid Obesity And Spermatogenic Failure |
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Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... |
OMIM:615703 |
Lambert Syndrome |
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Intrauterine growth retardation, Branchial anomaly |
ORPHA:1296 |
Diarrhea 7, Protein-Losing Enteropathy Type |
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Failure to thrive, Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia |
OMIM:615863 |
Hyperlipidemia, Familial Combined, 3 |
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Elevated circulating apolipoprotein B concentration, Hyperlipidemia, Increased LDL cholesterol co... |
OMIM:144250 |
Citrullinemia, Type Ii, Neonatal-Onset |
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Failure to thrive, Hyperbilirubinemia, Decreased HDL cholesterol concentration, Hypermethioninemi... |
OMIM:605814 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
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Failure to thrive, Splenomegaly, Increased total bilirubin, Conjugated hyperbilirubinemia, Hypoal... |
OMIM:619868 |
Analbuminemia |
|
Increased LDL cholesterol concentration, Elevated circulating transferrin concentration, Osteopor... |
OMIM:616000 |
Congenital Disorder Of Glycosylation, Type Iip |
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Decreased circulating ceruloplasmin concentration, Increased LDL cholesterol concentration, Hyper... |
OMIM:616829 |
Dominant Beta-Thalassemia |
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Decreased mean corpuscular volume, Splenomegaly, Extramedullary hematopoiesis, Anisocytosis, Pers... |
ORPHA:231226 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Hypercholesterolemia |
OMIM:301033 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
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Anisocytosis, Failure to thrive |
OMIM:604273 |
Sitosterolemia 1 |
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Episodic hemolytic anemia, Splenomegaly, Reticulocytosis, Chronic hemolytic anemia, Elevated circ... |
OMIM:210250 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
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Decreased mean corpuscular volume, Failure to thrive, Leukocytosis, Anisocytosis, Hepatosplenomeg... |
OMIM:618278 |
Hepatic Lipase Deficiency |
|
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:614025 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:607250 |
Glycogen Storage Disease Ixa1 |
|
Hypertriglyceridemia, Hypercholesterolemia, Hyperuricemia, Splenomegaly |
OMIM:306000 |
Temple Syndrome |
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Small for gestational age, Truncal obesity, Hypertriglyceridemia, Hypercholesterolemia, Overweight |
OMIM:616222 |
Congenital Disorder Of Glycosylation, Type Iio |
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Increased LDL cholesterol concentration, Splenomegaly, Hepatosplenomegaly, Elevated circulating c... |
OMIM:616828 |
Branchiogenic-Deafness Syndrome |
|
Branchial cyst, Branchial fistula |
OMIM:609166 |
Growth Hormone Insensitivity Syndrome |
|
Failure to thrive, Truncal obesity, Hypercholesterolemia |
ORPHA:181393 |
Branchiootic Syndrome 3 |
|
Branchial cyst |
OMIM:608389 |
Lipodystrophy, Congenital Generalized, Type 3 |
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Hypocalcemia, Splenomegaly, Hepatosplenomegaly, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:612526 |
Congenital Erythropoietic Porphyria |
|
Splenomegaly, Anisocytosis, Leukopenia, Increased erythrocyte protoporphyrin concentration, Osteo... |
ORPHA:79277 |
Cholesteryl Ester Storage Disease |
|
Hypertriglyceridemia, Hypercholesterolemia, Splenomegaly |
ORPHA:75234 |
Distal Myopathy, Tateyama Type |
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Abnormal circulating creatine kinase concentration, Hypercholesterolemia |
ORPHA:488650 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
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Hypoalbuminemia, Hypercholesterolemia |
ORPHA:94124 |
Branchiootic Syndrome 1 |
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Branchial fistula |
OMIM:602588 |
Lysosomal Acid Lipase Deficiency |
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Failure to thrive, Increased LDL cholesterol concentration, Splenomegaly, Steatorrhea, Hepatosple... |
OMIM:278000 |
Morgagni-Stewart-Morel Syndrome |
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Osteoporosis, Hyperostosis frontalis interna, Hyperuricemia, Hypercholesterolemia, Obesity |
ORPHA:77296 |
Hypercholesterolemia, Familial, 3 |
|
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia |
OMIM:603776 |
Apolipoprotein C-Ii Deficiency |
|
Splenomegaly, Decreased circulating apolipoprotein C-II concentration, Hypertriglyceridemia, Incr... |
OMIM:207750 |
Hypercholesterolemia, Familial, 2 |
|
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:144010 |
X-Linked Mandibulofacial Dysostosis |
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Webbed neck, Branchial anomaly |
ORPHA:1131 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
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Obesity, Hypercholesterolemia |
ORPHA:254531 |
Branchiogenic Deafness Syndrome |
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Branchial cyst, Branchial fistula |
ORPHA:50815 |
Branchiootic Syndrome |
|
Branchial fistula, Facial palsy |
ORPHA:52429 |
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
|
Branchial cyst |
ORPHA:435938 |
Galactokinase Deficiency |
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Failure to thrive, Small for gestational age, Hepatosplenomegaly, Increased level of galactitol i... |
ORPHA:79237 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
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Hypermethioninemia, Abnormal circulating arginine concentration, Abnormal circulating glutamine c... |
ORPHA:247598 |
Cog4-Cdg |
|
Hepatosplenomegaly, Thrombocytopenia, Failure to thrive in infancy, Hypercholesterolemia |
ORPHA:263501 |
Bor Syndrome |
|
Branchial cyst, Facial palsy |
ORPHA:107 |
Hyperlipoproteinemia, Type I |
|
Hyperlipidemia, Splenomegaly, Hepatosplenomegaly, Lactescent serum, Increased circulating chylomi... |
OMIM:238600 |
Congenital Generalized Lipodystrophy |
|
Failure to thrive, Bone cyst, Increased C-peptide level, Hypertriglyceridemia, Hypercholesterolemia |
ORPHA:528 |
Laron Syndrome |
|
Truncal obesity, Hypercholesterolemia |
ORPHA:633 |
Congenital Analbuminemia |
|
Hyperlipidemia, Hypoproteinemia, Small for gestational age, Increased alpha-globulin, Hypoalbumin... |
ORPHA:86816 |
Smith-Magenis Syndrome |
|
Hypertriglyceridemia, Increased body weight, Hypercholesterolemia |
OMIM:182290 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Failure to thrive, Splenomegaly, Elevated circulating creatine kinase concentration, Abnormal ery... |
ORPHA:264580 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Abdominal obesity, Truncal obesity, Hypercholesterolemia |
OMIM:615812 |
Branchiootorenal Syndrome 1 |
|
Branchial cyst, Branchial fistula, Facial palsy |
OMIM:113650 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Obesity, Small for gestational age, Truncal obesity, Hypercholesterolemia |
ORPHA:96184 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Splenomegaly, Elevated circulating creatine kinase concentration, Osteoporosis, Hypertriglyceride... |
ORPHA:79240 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Elevated circulating creatine kinase concentration, Hypoalbuminemia, Hypercholesterolemia |
OMIM:208920 |
Citrullinemia Type Ii |
|
Acute hyperammonemia, Hyperlipidemia, Hypoproteinemia, Decreased HDL cholesterol concentration, D... |
ORPHA:247585 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hypertriglyceridemia, Obesity, Increased LDL cholesterol concentration, Hypercholesterolemia |
ORPHA:209902 |
Gaisböck Syndrome |
|
Increased hematocrit, Elevated plasma cell count, Hyperproteinemia, Increased mean corpuscular he... |
ORPHA:90041 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Abnormal autonomic nervous system physiology, Cystic hygroma, Branchial anomaly, Intrauterine gro... |
ORPHA:453499 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentra... |
ORPHA:567548 |
Mandibuloacral Dysplasia |
|
Increased circulating free fatty acid level, Acroosteolysis of distal phalanges (feet), Hypertrig... |
ORPHA:2457 |
Holoprosencephaly |
|
Hydrocephalus, Holoprosencephaly, Short neck, Optic atrophy, Spinal dysraphism, Branchial anomaly... |
ORPHA:2162 |
Lysinuric Protein Intolerance |
|
Increased circulating ferritin concentration, Hemophagocytosis, Steatorrhea, Osteopenia, Hyperglu... |
ORPHA:470 |
Dysbetalipoproteinemia |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... |
ORPHA:412 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Overweight, Hypercholesterolemia |
ORPHA:401923 |
Oligomeganephronia |
|
Branchial cyst, Optic disc coloboma |
ORPHA:2260 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Failure to thrive, Splenomegaly, Elevated circulating creatine kinase concentration, Abnormal ery... |
ORPHA:370 |
Nephrotic Syndrome, Type 11 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:616730 |
Smith-Magenis Syndrome |
|
Hypertriglyceridemia, Obesity, Failure to thrive in infancy, Hypercholesterolemia |
ORPHA:819 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Elevated alpha-fetoprotein, Elevated circulating creatine kinase concentration, Hypoalbuminemia, ... |
ORPHA:64753 |
Ataxia With Vitamin E Deficiency |
|
Hypertriglyceridemia, Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:277460 |
Lysosomal Acid Lipase Deficiency |
|
Failure to thrive, Vacuolated lymphocytes, Steatorrhea, Cachexia, Hepatosplenomegaly, Hyperkalemi... |
ORPHA:275761 |
Megalocornea-Mental Retardation Syndrome |
|
Osteopenia, Hypercholesterolemia |
OMIM:249310 |
Megalocornea-Intellectual Disability Syndrome |
|
Osteopenia, Hypercholesterolemia |
ORPHA:2479 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Elevated alpha-fetoprotein, Conjugated hyperbilirubinemia, Increased serum bile acid concentratio... |
OMIM:619662 |
Distal 22Q11.2 Microduplication Syndrome |
|
Hydrocephalus, Branchial fistula, Optic disc coloboma, Webbed neck, Low posterior hairline |
ORPHA:261337 |
Immunodeficiency 47 |
|
Failure to thrive, Splenomegaly, Leukopenia, Accessory spleen, Normocytic anemia, Decreased circu... |
OMIM:300972 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Failure to thrive, Hyperlipidemia, Abnormal myeloid leukocyte morphology, Osteopenia, Osteoporosi... |
ORPHA:79259 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Hyperlipidemia, Osteopenia, Acroosteolysis of distal phalanges (feet), Progressive clavicular acr... |
OMIM:248370 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Leukocytosis, Hypercholesterolemia |
ORPHA:90065 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Optic nerve hypoplasia, Cystic hygroma, Increased nuchal translucency, Branchial anomaly |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Optic nerve hypoplasia, Cystic hygroma, Increased nuchal translucency, Branchial anomaly |
ORPHA:352665 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
|
Branchial anomaly |
ORPHA:466950 |
Low Phospholipid-Associated Cholelithiasis |
|
Obesity, Overweight, Hypercholesterolemia |
ORPHA:69663 |
Galloway-Mowat Syndrome 7 |
|
Hypercholesterolemia |
OMIM:618348 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Failure to thrive, Delayed proximal femoral epiphyseal ossification, Abnormal circulating thyrogl... |
ORPHA:90674 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Branchial fistula, Intrauterine growth retardation |
ORPHA:261330 |
Treacher-Collins Syndrome |
|
Branchial fistula, Encephalocele |
ORPHA:861 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypertriglyceridemia, Hypercholesterolemia |
OMIM:610644 |
Oculocerebrorenal Syndrome Of Lowe |
|
Failure to thrive, Hypophosphatemia, Hypokalemia, Hypoammonemia, Osteomalacia, Hyperaldosteronism... |
ORPHA:534 |
Bardet-Biedl Syndrome 20 |
|
Obesity, Hypercholesterolemia |
OMIM:619471 |
Lowe Oculocerebrorenal Syndrome |
|
Failure to thrive, Osteomalacia, Bicarbonaturia, Hypercholesterolemia, Elevated maternal serum al... |
OMIM:309000 |
Lipodystrophy, Familial Partial, Type 2 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:151660 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Hypertriglyceridemia, Hypercholesterolemia |
ORPHA:363618 |
Branchiooculofacial Syndrome |
|
Short neck, Branchial anomaly, Facial palsy, Intrauterine growth retardation, Low posterior hairline |
OMIM:113620 |
Alagille Syndrome 1 |
|
Hypertriglyceridemia, Failure to thrive, Hypercholesterolemia |
OMIM:118450 |
Witteveen-Kolk Syndrome |
|
Branchial fistula, Intrauterine growth retardation |
OMIM:613406 |
Lipodystrophy, Familial Partial, Type 7 |
|
Hypertriglyceridemia, Small for gestational age, Failure to thrive, Hypercholesterolemia |
OMIM:606721 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Increased circulating ferritin concentration, Failure to thrive, Hyperbilirubinemia, Splenomegaly... |
OMIM:619534 |
8Q24.3 Microdeletion Syndrome |
|
Optic nerve hypoplasia, Short neck, Spina bifida occulta, Branchial cyst, Intrauterine growth ret... |
ORPHA:508488 |
Craniofacial Microsomia |
|
Hydrocephalus, Occipital encephalocele, Branchial anomaly |
OMIM:164210 |
Steinert Myotonic Dystrophy |
|
Hypercholesterolemia |
ORPHA:273 |
Homozygous Familial Hypercholesterolemia |
|
Hyperlipidemia, Increased LDL cholesterol concentration, Hypercholesterolemia |
ORPHA:391665 |
Autosomal Recessive Non-Syndromic Intellectual Disability |
|
|
ORPHA:88616 |
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
|
OMIM:614249 |