Biomaterial Database

Various genetic traits and diseases among the Jewish ethnic groups. 1974

R M Goodman

UI	MeSH Term	Description	Entries
D007557	Israel	A country in the Middle East, bordering the Mediterranean Sea, between Egypt and Lebanon. The capital is Jerusalem.
D007566	Jaundice, Chronic Idiopathic	A benign, autosomally recessive inherited hyperbilirubinemia characterized by the presence of a dark pigment in the centrilobular region of the liver cells. There is a functional defect in biliary excretion of bilirubin, cholephilic dyes, and porphyrins. Affected persons may be asymptomatic or have vague constitutional or gastrointestinal symptoms. The liver may be slightly enlarged, and oral and intravenous cholangiography fails to visualize the biliary tract.	Dubin-Johnson Syndrome,Hyperbilirubinemia 2,Hyperbilirubinemia II,Chronic Idiopathic Jaundice,Chronic Idiopathic Jaundices,Dubin Johnson Syndrome,Hyperbilirubinemia 2s,Hyperbilirubinemia IIs,Idiopathic Jaundice, Chronic,Idiopathic Jaundices, Chronic,Jaundices, Chronic Idiopathic,Syndrome, Dubin-Johnson
D007585	Jews	An ethnic group with historical ties to the land of ISRAEL and the religion of JUDAISM.	Jew
D008064	Lipidoses	Conditions characterized by abnormal lipid deposition due to disturbance in lipid metabolism, such as hereditary diseases involving lysosomal enzymes required for lipid breakdown. They are classified either by the enzyme defect or by the type of lipid involved.	Lipidosis,Lipoidosis
D009542	Niemann-Pick Diseases	A group of autosomal recessive disorders in which harmful quantities of lipids accumulate in the viscera and the central nervous system. They can be caused by deficiencies of enzyme activities (SPHINGOMYELIN PHOSPHODIESTERASE) or defects in intracellular transport, resulting in the accumulation of SPHINGOMYELINS and CHOLESTEROL. There are various subtypes based on their clinical and genetic differences.	ASM Deficiency,ASM-Deficient Niemann-Pick Disease,Acid Sphingomyelinase Deficiency,Acid Sphingomyelinase-deficient Niemann-Pick Disease,Niemann-Pick Disease,ASM Deficiencies,ASM Deficient Niemann Pick Disease,ASM-Deficient Niemann-Pick Diseases,Acid Sphingomyelinase deficient Niemann Pick Disease,Deficiencies, ASM,Deficiencies, Acid Sphingomyelinase,Deficiency, ASM,Deficiency, Acid Sphingomyelinase,Disease, ASM-Deficient Niemann-Pick,Diseases, ASM-Deficient Niemann-Pick,Niemann Pick Disease,Niemann Pick Diseases,Niemann-Pick Disease, ASM-Deficient,Niemann-Pick Diseases, ASM-Deficient,Sphingomyelinase Deficiencies, Acid,Sphingomyelinase Deficiency, Acid
D010429	Pentoses	Monosaccharide sugar molecules that contain a five carbon backbone.	Pentose,Ketopentose,Ketopentoses
D010505	Familial Mediterranean Fever	A group of HEREDITARY AUTOINFLAMMATION DISEASES, characterized by recurrent fever, abdominal pain, headache, rash, PLEURISY; and ARTHRITIS. ORCHITIS; benign MENINGITIS; and AMYLOIDOSIS may also occur. Homozygous or compound heterozygous mutations in marenostrin gene encoding PYRIN result in autosomal recessive transmission; simple heterozygous, autosomal dominant form of the disease also exists with mutations in the same gene.	Mediterranean Fever, Familial,Periodic Disease,Periodic Disease, Wolff's,Wolff Periodic Disease,Wolff's Periodic Disease,Benign Paroxysmal Peritonitis,Familial Mediterranean Fever, Autosomal Dominant,Familial Mediterranean Fever, Autosomal Recessive,Familial Paroxysmal Polyserositis,Periodic Peritonitis,Polyserositis, Familial Paroxysmal,Polyserositis, Recurrent,Recurrent Polyserositis,Benign Paroxysmal Peritonitides,Disease, Periodic,Disease, Wolff Periodic,Disease, Wolff's Periodic,Diseases, Periodic,Familial Paroxysmal Polyserositides,Paroxysmal Peritonitides, Benign,Paroxysmal Peritonitis, Benign,Paroxysmal Polyserositides, Familial,Paroxysmal Polyserositis, Familial,Periodic Disease, Wolff,Periodic Disease, Wolffs,Periodic Diseases,Periodic Peritonitides,Peritonitides, Benign Paroxysmal,Peritonitides, Periodic,Peritonitis, Benign Paroxysmal,Peritonitis, Periodic,Polyserositides, Familial Paroxysmal,Polyserositides, Recurrent,Recurrent Polyserositides,Wolffs Periodic Disease
D010661	Phenylketonurias	A group of autosomal recessive disorders marked by a deficiency of the hepatic enzyme PHENYLALANINE HYDROXYLASE or less frequently by reduced activity of DIHYDROPTERIDINE REDUCTASE (i.e., atypical phenylketonuria). Classical phenylketonuria is caused by a severe deficiency of phenylalanine hydroxylase and presents in infancy with developmental delay; SEIZURES; skin HYPOPIGMENTATION; ECZEMA; and demyelination in the central nervous system. (From Adams et al., Principles of Neurology, 6th ed, p952).	Biopterin Deficiency,Dihydropteridine Reductase Deficiency Disease,Hyperphenylalaninemia, Non-Phenylketonuric,Phenylalanine Hydroxylase Deficiency Disease,BH4 Deficiency,DHPR Deficiency,Deficiency Disease, Dihydropteridine Reductase,Deficiency Disease, Phenylalanine Hydroxylase,Deficiency Disease, Phenylalanine Hydroxylase, Severe,Dihydropteridine Reductase Deficiency,Folling Disease,Folling's Disease,HPABH4C,Hyperphenylalaninaemia,Hyperphenylalaninemia Caused by a Defect in Biopterin Metabolism,Hyperphenylalaninemia, BH4-Deficient, C,Hyperphenylalaninemia, Tetrahydrobiopterin-Deficient, Due To DHPR Deficiency,Non-Phenylketonuric Hyperphenylalaninemia,Oligophrenia Phenylpyruvica,PAH Deficiency,PKU, Atypical,Phenylalanine Hydroxylase Deficiency,Phenylalanine Hydroxylase Deficiency Disease, Severe,Phenylketonuria,Phenylketonuria I,Phenylketonuria II,Phenylketonuria Type 2,Phenylketonuria, Atypical,Phenylketonuria, Classical,QDPR Deficiency,Quinoid Dihydropteridine Reductase Deficiency,Tetrahydrobiopterin Deficiency,Atypical PKU,Atypical Phenylketonuria,Biopterin Deficiencies,Classical Phenylketonuria,Deficiency, BH4,Deficiency, Biopterin,Deficiency, DHPR,Deficiency, Dihydropteridine Reductase,Deficiency, PAH,Deficiency, Phenylalanine Hydroxylase,Deficiency, QDPR,Deficiency, Tetrahydrobiopterin,Disease, Folling,Disease, Folling's,Hyperphenylalaninemia, Non Phenylketonuric,Non Phenylketonuric Hyperphenylalaninemia,Non-Phenylketonuric Hyperphenylalaninemias
D002239	Carbohydrate Metabolism, Inborn Errors	Dysfunctions of CARBOHYDRATE METABOLISM resulting from inborn genetic mutations that are inherited or acquired in utero.	Carbohydrate Metabolism, Inborn Error
D003878	Dermatoglyphics	The study of the patterns of ridges of the skin of the fingers, palms, toes, and soles.	Fingerprints,Plantar Prints,Fingerprint,Plantar Print,Print, Plantar,Prints, Plantar