Associated Graphics
In this section, you will be able to download illustrations associated with many of the conditions in the list of disorders section. These files provide graphic information regarding relevant biochemical pathways, which would be useful as additional learning and teaching tools for students, academics, and physicians. In addition to the normal pathway sequence, the metabolic and clinical consequences of the relevant mutation are illustrated. Click on the camera icon specific to each disorder to gain access to these graphics, or use the information icon to gain access to clinical description of these disorders.
You will need Adobe Reader® to open these PDF files: 
CONDITIONS | GRAPHICS | DESCRIPTIONS | |||||||
| Adenomatous Polyposis of the Colon | |||||||||
| Adrenal Hyperplasia II | |||||||||
| Adrenal Hyperplasia IV | |||||||||
| Adrenal Hyperplasia V | |||||||||
| Albinism Type 1B | |||||||||
| Alstrom Syndrome | |||||||||
| Androgen Insensitivity Syndrome | |||||||||
| Ataxia-telangiectasia | |||||||||
| Biotin Deficiency | |||||||||
| Carnitine Palmitoyl Transferase Deficiency | |||||||||
| Cartilage-hair hypoplasia | |||||||||
| Cerebellar hypoplasia (VLDR-associated) | |||||||||
| Cholestasis, Familial Intrahepatic | |||||||||
| Cleidocranial dysostosis | |||||||||
| Congenital Hypothyroidism | |||||||||
| Congenital nephrotic syndrome, Finnish type | |||||||||
| Congenital sodium diarrhea | |||||||||
| Corticosterone Methyl Oxidase Type I Deficiency | |||||||||
| Cortisol 11-Beta-Ketoreductase Deficiency | |||||||||
| Crigler Najjar Syndrome | |||||||||
| Cystic Fibrosis | |||||||||
| Cystinosis | |||||||||
| Cystinuria | |||||||||
| Desmoid disease | |||||||||
| Factor V Leiden Heterozygosity | |||||||||
| Familial Dysalbuminemic Hyperthyroxinemia | |||||||||
| Gitelman Syndrome | |||||||||
| Glutaric Aciduria | |||||||||
| Glycogen Storage Disease | |||||||||
| GM3 Synthase Deficiency | |||||||||
| Hemophilia B | |||||||||
| Hereditary non-polyposis colon cancer | |||||||||
| Homocystinuria | |||||||||
| Hypercholanemia | |||||||||
| Hypertrophic cardiomyopathy | |||||||||
| Hypophosphatasia | |||||||||
| Infantile Refsum | |||||||||
| Jackson-Weiss Syndrome |  |  | |||||||
| Malignant Hyperthermia | | | |||||||
| Maple Syrup Urine Disease | |||||||||
| Methylcrotonyl-CoA Carboxylase-2 (MCCC2) Deficiency | |||||||||
| Medium Chain Acyl-CoA (MCAD) Deficiency | |||||||||
| Methylmalonic Aciduria | |||||||||
| Mevalonate Kinase Deficiency | |||||||||
| Mitochondrial DNA depletion syndrome | |||||||||
| Mucopolysaccharidosis, type VII | |||||||||
| Nemaline myopathy 5 (Amish type) | |||||||||
| Osteogenesis Imperfecta Type I | |||||||||
| Plasminogen activator inhibitor-1 deficiency | |||||||||
| Pantothenate Kinase 2 Deficiency | |||||||||
| Phenylketonuria | |||||||||
| Pituitary Dwarfism III | |||||||||
| Prolidase Deficiency | |||||||||
| Propionic Acidemia | |||||||||
| Protease Inhibitor 1 Deficiency | |||||||||
| Pyruvate Kinase Deficiency | |||||||||
| Severe Combined Immunodeficiency | |||||||||
| Sitosterolemia | |||||||||
| Thrombasthenia, Glansmann | |||||||||
| Thyroid Hormone Dysgenesis | |||||||||
| Thyroid Oxidase Deficiency | |||||||||
| Tyrosinemia | |||||||||
| Von Willebrand Disease | |||||||||
New malformation syndrome in Hutterites found
