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

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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) ..