| D009083 |
Mucopolysaccharidoses |
Group of lysosomal storage diseases each caused by an inherited deficiency of an enzyme involved in the degradation of glycosaminoglycans (mucopolysaccharides). The diseases are progressive and often display a wide spectrum of clinical severity within one enzyme deficiency. |
Mucopolysaccharidosis |
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| D010414 |
Pennsylvania |
State bounded on the north by New York and Lake Erie, on the east by Delaware and New Jersey, on the south by Delaware and Maryland, and on the west by Ohio and West Virginia. |
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| D002874 |
Chromosome Mapping |
Any method used for determining the location of and relative distances between genes on a chromosome. |
Gene Mapping,Linkage Mapping,Genome Mapping,Chromosome Mappings,Gene Mappings,Genome Mappings,Linkage Mappings,Mapping, Chromosome,Mapping, Gene,Mapping, Genome,Mapping, Linkage,Mappings, Chromosome,Mappings, Gene,Mappings, Genome,Mappings, Linkage |
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| D002877 |
Chromosomes, Human |
Very long DNA molecules and associated proteins, HISTONES, and non-histone chromosomal proteins (CHROMOSOMAL PROTEINS, NON-HISTONE). Normally 46 chromosomes, including two sex chromosomes are found in the nucleus of human cells. They carry the hereditary information of the individual. |
Chromosome, Human,Human Chromosome,Human Chromosomes |
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| D003241 |
Consanguinity |
The magnitude of INBREEDING in humans. |
Inbreeding, Human,Consanguineous Marriage,Consanguinous Mating,Consanguineous Marriages,Consanguinities,Consanguinous Matings,Human Inbreeding,Human Inbreedings,Inbreedings, Human,Marriage, Consanguineous,Marriages, Consanguineous,Mating, Consanguinous,Matings, Consanguinous |
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| D005006 |
Ethnicity |
A group of people with a common cultural heritage that sets them apart from others in a variety of social relationships. |
Ethnic Groups,Nationality,Ethnic Group,Nationalities |
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| D005260 |
Female |
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Females |
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| D005826 |
Genetics, Medical |
A subdiscipline of human genetics which entails the reliable prediction of certain human disorders as a function of the lineage and/or genetic makeup of an individual or of any two parents or potential parents. |
Medical Genetics |
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| D005828 |
Genetics, Population |
The discipline studying genetic composition of populations and effects of factors such as GENETIC SELECTION, population size, MUTATION, migration, and GENETIC DRIFT on the frequencies of various GENOTYPES and PHENOTYPES using a variety of GENETIC TECHNIQUES. |
Population Genetics |
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| D006801 |
Humans |
Members of the species Homo sapiens. |
Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man |
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