| D009084 |
Mucopolysaccharidosis III |
Mucopolysaccharidosis characterized by heparitin sulfate in the urine, progressive mental retardation, mild dwarfism, and other skeletal disorders. There are four clinically indistinguishable but biochemically distinct forms, each due to a deficiency of a different enzyme. |
Polydystrophic Oligophrenia,Sanfilippo's Syndrome,Acetyl-CoA:alpha-Glucosaminide N-Acetyltransferase Deficiency,Heparan Sulfate Sulfatase Deficiency,MPS 3 A,MPS 3 B,MPS 3 C,MPS 3 D,MPS III A,MPS III B,MPS III C,MPS III D,MPS IIIA,MPS IIIB,MPS IIIC,MPS IIID,MPS3A,MPS3B,MPS3C,Mucopolysaccharidosis 3,Mucopolysaccharidosis Type 3 A,Mucopolysaccharidosis Type 3 A Sanfilippo Syndrome,Mucopolysaccharidosis Type 3 B,Mucopolysaccharidosis Type 3 C,Mucopolysaccharidosis Type 3 D,Mucopolysaccharidosis Type IIIA,Mucopolysaccharidosis Type IIIB,Mucopolysaccharidosis Type IIIC,Mucopolysaccharidosis Type IIID,N-Acetyl-alpha-D-Glucosaminidase Deficiency,N-Acetylglucosamine-6-Sulfatase Deficiency,N-Acetylglucosamine-6-Sulfate Sulfatase Deficiency,NAGLU Deficiency,San Filippo's Syndrome,Sanfilippo Syndrome,Sanfilippo Syndrome A,Sanfilippo Syndrome B,Sanfilippo Syndrome C,Sanfilippo Syndrome D,Sulfamidase Deficiency,Acetyl CoA:alpha Glucosaminide N Acetyltransferase Deficiency,Acetyl-CoA:alpha-Glucosaminide N-Acetyltransferase Deficiencies,Deficiencies, Acetyl-CoA:alpha-Glucosaminide N-Acetyltransferase,Deficiencies, N-Acetyl-alpha-D-Glucosaminidase,Deficiencies, N-Acetylglucosamine-6-Sulfatase,Deficiencies, N-Acetylglucosamine-6-Sulfate Sulfatase,Deficiencies, NAGLU,Deficiencies, Sulfamidase,Deficiency, Acetyl-CoA:alpha-Glucosaminide N-Acetyltransferase,Deficiency, N-Acetyl-alpha-D-Glucosaminidase,Deficiency, N-Acetylglucosamine-6-Sulfatase,Deficiency, N-Acetylglucosamine-6-Sulfate Sulfatase,Deficiency, NAGLU,Deficiency, Sulfamidase,MPS IIIDs,Mucopolysaccharidosis IIIs,Mucopolysaccharidosis Type IIIAs,Mucopolysaccharidosis Type IIIBs,Mucopolysaccharidosis Type IIICs,Mucopolysaccharidosis Type IIIDs,N Acetyl alpha D Glucosaminidase Deficiency,N Acetylglucosamine 6 Sulfatase Deficiency,N Acetylglucosamine 6 Sulfate Sulfatase Deficiency,N-Acetyl-alpha-D-Glucosaminidase Deficiencies,N-Acetylglucosamine-6-Sulfatase Deficiencies,N-Acetylglucosamine-6-Sulfate Sulfatase Deficiencies,N-Acetyltransferase Deficiencies, Acetyl-CoA:alpha-Glucosaminide,N-Acetyltransferase Deficiency, Acetyl-CoA:alpha-Glucosaminide,NAGLU Deficiencies,Oligophrenia, Polydystrophic,Oligophrenias, Polydystrophic,Polydystrophic Oligophrenias,San Filippo Syndrome,San Filippos Syndrome,Sanfilippo Syndromes,Sanfilippos Syndrome,Sulfamidase Deficiencies,Sulfatase Deficiencies, N-Acetylglucosamine-6-Sulfate,Sulfatase Deficiency, N-Acetylglucosamine-6-Sulfate,Syndrome, San Filippo's,Syndrome, Sanfilippo,Syndrome, Sanfilippo's,Syndromes, Sanfilippo |
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| D004252 |
DNA Mutational Analysis |
Biochemical identification of mutational changes in a nucleotide sequence. |
Mutational Analysis, DNA,Analysis, DNA Mutational,Analyses, DNA Mutational,DNA Mutational Analyses,Mutational Analyses, DNA |
|
| D005347 |
Fibroblasts |
Connective tissue cells which secrete an extracellular matrix rich in collagen and other macromolecules. |
Fibroblast |
|
| D006801 |
Humans |
Members of the species Homo sapiens. |
Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man |
|
| D006867 |
Hydrolases |
Any member of the class of enzymes that catalyze the cleavage of the substrate and the addition of water to the resulting molecules, e.g., ESTERASES, glycosidases (GLYCOSIDE HYDROLASES), lipases, NUCLEOTIDASES, peptidases (PEPTIDE HYDROLASES), and phosphatases (PHOSPHORIC MONOESTER HYDROLASES). EC 3. |
Hydrolase |
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| D000118 |
Acetylglucosaminidase |
A beta-N-Acetylhexosaminidase that catalyzes the hydrolysis of terminal, non-reducing 2-acetamido-2-deoxy-beta-glucose residues in chitobiose and higher analogs as well as in glycoproteins. Has been used widely in structural studies on bacterial cell walls and in the study of diseases such as MUCOLIPIDOSIS and various inflammatory disorders of muscle and connective tissue. |
N-Acetyl-beta-D-glucosaminidase,Chitobiase,N,N-Diacetylchitobiase,N-Ac-beta-Glucosaminidase,NAGase,beta-D-Acetamido-2-Deoxyglucosidase,beta-D-N-acetylglucosaminidase,beta-N-Acetylglucosaminidase,N Ac beta Glucosaminidase,N Acetyl beta D glucosaminidase,N,N Diacetylchitobiase,beta D Acetamido 2 Deoxyglucosidase,beta D N acetylglucosaminidase,beta N Acetylglucosaminidase |
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| D014644 |
Genetic Variation |
Genotypic differences observed among individuals in a population. |
Genetic Diversity,Variation, Genetic,Diversity, Genetic,Diversities, Genetic,Genetic Diversities,Genetic Variations,Variations, Genetic |
|
| D017354 |
Point Mutation |
A mutation caused by the substitution of one nucleotide for another. This results in the DNA molecule having a change in a single base pair. |
Mutation, Point,Mutations, Point,Point Mutations |
|
| D017931 |
DNA Primers |
Short sequences (generally about 10 base pairs) of DNA that are complementary to sequences of messenger RNA and allow reverse transcriptases to start copying the adjacent sequences of mRNA. Primers are used extensively in genetic and molecular biology techniques. |
DNA Primer,Oligodeoxyribonucleotide Primer,Oligodeoxyribonucleotide Primers,Oligonucleotide Primer,Oligonucleotide Primers,Primer, DNA,Primer, Oligodeoxyribonucleotide,Primer, Oligonucleotide,Primers, DNA,Primers, Oligodeoxyribonucleotide,Primers, Oligonucleotide |
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| D020125 |
Mutation, Missense |
A mutation in which a codon is mutated to one directing the incorporation of a different amino acid. This substitution may result in an inactive or unstable product. (From A Dictionary of Genetics, King & Stansfield, 5th ed) |
Missense Mutation,Missense Mutations,Mutations, Missense |
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