Descriptions of phenotypes
ثبت نشده
چکیده
2 Disease list and descriptions: A 15 2.1 Amino acid (AA) metabolism (aromatic) (Albinism, Alkaptonuria, Tyrosinemia, Waardenburg syndrome) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 15 2.1.1 Albinism . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 15 2.1.2 Alkaptonuria . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 15 2.1.3 Tyrosinemia . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 15 2.1.4 Waardenburg syndrome . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 15 2.2 Amino acid (AA) metabolism (branched) (maple syrup urine disease) . . . . . . . . . . . . . 16 2.2.1 Maple syrup urine disease . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 16 2.3 Amino acid (AA) metabolism (Lowe) (Beta-alaninemia, Hydroxyprolinemia, Hyperprolinemia, Sarcosinemia) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 16 2.3.1 Beta-alaninemia . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 16 2.3.2 Hydroxyprolinemia . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 16 2.3.3 Hyperprolinemia . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 16 2.3.4 Sarcosinemia . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 17 2.4 Amino acid (AA) metabolism (sulfur-bearing) (Homocystinuria) . . . . . . . . . . . . . . . . 17 2.4.1 Homocystinuria . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 17 2.5 Amino acid (AA) metabolism (straight-chain) (Hyperglycinemia, Hyperlysinemia, Pipecolic acidemia, Saccharopinuria) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 17 2.5.1 Hyperglycinemia . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 17 2.5.2 Hyperlysinemia . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 17 2.5.3 Pipecolic acidemia . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 17 2.5.4 Saccharopinuria . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 18 2.6 Amino acid (AA) transport (Cystinosis, Cystinuria, Hartnup disease) . . . . . . . . . . . . . 18 2.6.1 Cystinosis . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 18 2.6.2 Cystinuria . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 18 2.6.3 Hartnup disease . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 18 2.7 Acanthosis nigricans . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 18 2.8 Acidosis . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 19 2.9 (Organic) Aciduria . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 19 2.10 Actinomycosis . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 19 2.11 Acute leukemia . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 20 2.12 Acute promyelocytic leukemia . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 20 2.13 Ainhum . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 20 2.14 Albright (-McCune)-Sternberg syndrome . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 21 2.15 Alcoholism . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 21 2.16 Allergic rhinitis . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 21 2.17 Alkalosis . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 21 2.18 Alopecia (baldness) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 22
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