| D007791 |
Lactoylglutathione Lyase |
An enzyme that catalyzes the interconversion of methylglyoxal and lactate, with glutathione serving as a coenzyme. EC 4.4.1.5. |
Glyoxalase I,Lactoyl Glutathione Lyase,Methylglyoxalase,Glutathione Lyase, Lactoyl,Lyase, Lactoyl Glutathione,Lyase, Lactoylglutathione |
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| D008040 |
Genetic Linkage |
The co-inheritance of two or more non-allelic GENES due to their being located more or less closely on the same CHROMOSOME. |
Genetic Linkage Analysis,Linkage, Genetic,Analyses, Genetic Linkage,Analysis, Genetic Linkage,Genetic Linkage Analyses,Linkage Analyses, Genetic,Linkage Analysis, Genetic |
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| D010375 |
Pedigree |
The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition. |
Family Tree,Genealogical Tree,Genealogic Tree,Genetic Identity,Identity, Genetic,Family Trees,Genealogic Trees,Genealogical Trees,Genetic Identities,Identities, Genetic,Tree, Family,Tree, Genealogic,Tree, Genealogical,Trees, Family,Trees, Genealogic,Trees, Genealogical |
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| 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 |
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| D011415 |
Complement Factor B |
A glycine-rich, heat-labile serum glycoprotein that contains a component of the C3 CONVERTASE ALTERNATE PATHWAY (C3bBb). Bb, a serine protease, is generated when factor B is cleaved by COMPLEMENT FACTOR D into Ba and Bb. |
C3 Proactivator,C3PA,Complement 3 Proactivator,Factor B,Properdin Factor B,Bb Fragment of Factor B,Complement Factor B Fragment, Bb,Complement Factor B, Alternative Pathway,Complement Factor B-Derived Fragment Bb,Complement Factor Ba,Complement Factor Bb,Complement Protein B,Complement Protein Factor B,Properdin Factor Ba,Properdin Factor Bb,Properdin Factor Bf,Properdin Factor Bf F1,Bb, Complement Factor,Complement Factor B Derived Fragment Bb,Factor B, Complement,Factor B, Properdin,Factor Ba, Complement,Factor Ba, Properdin,Factor Bb, Complement,Factor Bb, Properdin,Factor Bf, Properdin,Proactivator, C3,Proactivator, Complement 3,Protein B, Complement |
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| D002896 |
Chromosomes, Human, Pair 6 |
A specific pair GROUP C CHROMSOMES of the human chromosome classification. |
Chromosome 6 |
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| D005819 |
Genetic Markers |
A phenotypically recognizable genetic trait which can be used to identify a genetic locus, a linkage group, or a recombination event. |
Chromosome Markers,DNA Markers,Markers, DNA,Markers, Genetic,Genetic Marker,Marker, Genetic,Chromosome Marker,DNA Marker,Marker, Chromosome,Marker, DNA,Markers, Chromosome |
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| D006650 |
Histocompatibility Testing |
Identification of the major histocompatibility antigens of transplant DONORS and potential recipients, usually by serological tests. Donor and recipient pairs should be of identical ABO blood group, and in addition should be matched as closely as possible for HISTOCOMPATIBILITY ANTIGENS in order to minimize the likelihood of allograft rejection. (King, Dictionary of Genetics, 4th ed) |
Crossmatching, Tissue,HLA Typing,Tissue Typing,Crossmatchings, Tissue,HLA Typings,Histocompatibility Testings,Testing, Histocompatibility,Testings, Histocompatibility,Tissue Crossmatching,Tissue Crossmatchings,Tissue Typings,Typing, HLA,Typing, Tissue,Typings, HLA,Typings, Tissue |
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| D006801 |
Humans |
Members of the species Homo sapiens. |
Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man |
|
| D000483 |
Alleles |
Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product. |
Allelomorphs,Allele,Allelomorph |
|