Term
| Inborn Error of Metabolism |
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Definition
| Affected individuals are homozygous for an autosomal recessive mutation for an enzyme |
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Term
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Definition
| Human disease, urine turns black because they can't break down homogenitisic acid (HA), arthritis later in life |
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Term
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Definition
| Autosomal recessive disorder, can't convert phenylalanine into tyrosine, mental retardation, slow growth, each death |
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Term
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Definition
| Autosomal recessive disorder, can't convert DOPA into melanin producing pale white skin |
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Term
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Definition
| Human genetic disease caused by mutations in the protein Hemoglobin |
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Term
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Definition
| Human genetic disease caused by mutations in the transmembrane conductance regulator |
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Term
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Definition
| Alleles that express the same trait but are located on different genes at different loci |
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Term
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Definition
| The expression of one allele prevents or "masks" the expression of alleles at another locus |
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