Descriptions of Phenotypes

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Descriptions of phenotypes September 27, 2006 Contents 1 Mapping of disease names onto ICD-9 codes 7 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, Hyperproline- mia, 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 1 2 2.19 Alopecia areata . 22 2.20 Alzheimer’s disease . 22 2.21 Amebiasis . 22 2.22 Amyotrophic lateral sclerosis . 23 2.23 Anaerobic infection . 23 2.24 Aniridia (eye abnormalities) . 23 2.25 Ankylosing spondylitis . 23 2.26 Anthrax . 24 2.27 Aortic aneurysm . 24 2.28 Aplastic anemia . 24 2.29 Attention Deficit Hyperactivity Disorder . 24 2.30 Autism . 25 3 Disease list and descriptions: B 25 3.1 Behcet’s syndrome . 25 3.2 Benign neoplasms . 26 3.3 Bipolar disorder . 26 3.4 Breast cancer (male) . 26 3.5 Breast cancer . 26 3.6 Brucellosis . 27 3.7 Budd-Chiari syndrome . 27 3.8 Bundle branch block . 27 3.9 Buphthalmos . 27 3.10 Burkitt lymphoma . 28 4 Disease list and descriptions: C 28 4.1 Carbohydrate transport and metabolism (Glycogen storage disease, Lactose intolerance, Galactosemia) . 28 4.1.1 Glycogen storage disease . 28 4.1.2 Lactose intolerance . 28 4.1.3 Galactosemia . 29 4.2 Carcinoma in situ . 29 4.3 Cardiomyopathy . 29 4.4 Celiac sprue (celiac disease) . 29 4.5 Cerebral palsy . 30 4.6 Cervical rib . 30 4.7 Charcot-Marie-Tooth disease . 30 4.8 Cholelithiasis (gallstones) . 30 4.9 Cholera . 31 4.10 Chondrodystrophy (achondroplasia) . 31 4.11 Congenital absence of vertebrae . 31 4.12 Congenital spinal fusion (congenital spinal stenosis) . 32 4.13 Cystic fibrosis . 32 5 Disease list and descriptions: D 33 5.1 Dejerine-Sottas syndrome . 33 5.2 Depression . 33 5.3 Dermatomyositis-polymyositis . 34 5.4 Diabetes mellitus . 34 5.5 Diphtheria . 34 3 6 Disease list and descriptions: E 35 6.1 E. coli intestinal disease . 35 6.2 Edward’s syndrome . 35 6.3 Enzyme-deficiency (hemolytic anemia) . ..

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