DISEASE DIRECTORY

Monday, September 06, 2010

Genetic Disorders

 Aarskog Syndrome
Aase Syndrome
Ablepharon-Macrostomia Syndrome
Alagille Syndrome
Alkaptonuria
Alpha-1 Antitrypsin Deficiency
Batten
Beckwith-Wiedemann Syndrome
Coffin Lowry Syndrome
Costello Syndrome
Cowden Syndrome
Craniofrontonasal Dysplasia
Crigler-Najjar Syndrome
Cystic Fibrosis
DiGeorge Syndrome
Down Syndrome
Dubowitz Syndrome
Ectodermal Dysplasia
Familial Hypercholesterolemia
Fatty Oxidation
Floating-Harbor Syndrome
Fragile X Syndrome
Glutaricaciduria
Hailey-Hailey Disease
Hemihypertrophy
Hemochromatosis
Hereditary Angioedema
Hereditary Spastic Paraplegia
Incontinentia Pigmenti
Joubert Syndrome
Klinefelter Syndrome
Laurence-Moon Syndrome
Lesch-Nyhan Syndrome
Lowe Syndrome
Machado-Joseph
Mannosidosis
McArdle's
Meckel-Gruber Syndrome
Mobius Syndrome
Nail Patella Syndrome
Noonan Syndrome
Opitz Syndrome
Organizations
Pallister-Hall Syndrome
Pallister Killian Mosaic Syndrome
Personal Pages
Popliteal Pterygium Syndrome
Prader-Willi Syndrome
Propionic Acidemia
Proteus Syndrome
Prune Belly Syndrome
Pseudoxanthoma Elasticum
Robinow Syndrome
Russell Silver Syndrome
Sanfilippo Syndrome
Schizencephaly
Shwachman Syndrome
Smith-Magenis Syndrome
Smith Lemli Opitz Syndrome
Soto's Syndrome
Sturge-Weber Syndrome
Thrombocytopenia Absent Radius Syndrome
Turner Syndrome
Urea Cycle
Usher Syndrome
Velo-Cardio-Facial Syndrome
Von Hippel-Lindau
Waardenburg Syndrome
Weaver Syndrome
Williams Syndrome
Xeroderma Pigmentosum
Zellweger Syndrome

  • Alkaptonuria - A brief discussion about this disease and its statistics world wide. Followed by a case study of a 4 year old boy, whose parents noted the darkening of the urine to an almost black color when it was left standing.
  • Alkaptonuria - Alkaptonuria. Disease type: Genetic Disorder Chromosome : 3 Pathology. Aetiology. The gene for Alkaptonuria is a recessive mutation.
  • Alkaptonuria - Alkaptonuria is a rare hereditary disorder in which homogentisic acid accumulates in the body and destroys connective tissue and bone, creating a condition
  • ALKAPTONURIA - Features Listed For ALKAPTONURIA. McKusick: 203500. Abnormal urinary colour; Aminoaciduria; Arterial stenosis; Blue sclera; Calcification of ear cartilage;
  • Alkaptonuria - Alkaptonuria. Alkaptonuria (AKU; McKusick nº 203500) is a rare autosomal recessive disorder of both historical and medical interest.
  • Alkaptonuria - V |W | X| Y | Z |. Back Home Next. Alkaptonuria. Alkaptonuria and Ochronosis Notebook. Alliance of Genetic Support Groups - national
  • Alkaptonuria - More Alkaptonuria Categories: » Submit Your Site to the Alkaptonuria category. Submit Your Site to the Alkaptonuria category. Featured Partners.
  • ALKAPTONURIA - ALKAPTONURIA - The excretion of homogentisic acid (alkapton) in the urine due to the congenital absence of the enzyme homogentisate 1,2-dioxygenase.
  • Alkaptonuria - Wikipedia - Alkaptonuria. Alkaptonuria also known as alcaptonuria or ochronosis is a rare inherited, genetic disorder of tyrosine metabolism.
  • Alkaptonuria and Ochronosis - A detailed look at these disorders, how it affects the many body parts, diagnosis, diet and treatment are discussed.
  • alkaptonuria definition of alkaptonuria. What is alkaptonuria? ... - Definition of alkaptonuria in the Dictionary and Thesaurus. Provides examples from classic literature, search by definition of alkaptonuria.
  • Alkaptonuria Information Diseases Database - Alkaptonuria,Homogentisate 1,2-dioxygenase deficiency,Homogentisic acid oxidase deficiency,Ochronosis, Disease Database Information.
  • Alkaptonuria, Alcaptonuria, Alkaptonuric Ochronosis, Hereditary ... - Alkaptonuria, Alcaptonuria, Alkaptonuric Ochronosis, Hereditary Alkaptonuria, Homogentisic Acid Oxidase Deficiency, Homogentisic Acidura, Ochronosis
  • Alkaptonuria/Ochronosis Study Group - Alkaptonuria/Ochronosis Study Group. Members and Contributors. Aims Electronic collection of clinical data. Sites of interest. Scopi Cos'è l'alcaptonuria.
  • ALKAPTONURIA: CASE REPORT AND REVIEW OF THE LITERATURE - 442 Annals of Saudi Medicine, Vol 18, No 5, 1998 ALKAPTONURIA: CASE REPORT AND REVIEW OF THE LITERATURE M. Al-Essa, MD; L. Al-Shamsan; MS Rashed, PhD ; PT Ozand
  • Clinical Trial: Study of Alkaptonuria - Study of Alkaptonuria. This study is currently recruiting patients. Patients with alkaptonuria who are at least one month old may be eligible for this study.
  • Diagnose-Me: Conditions: Ochronosis / Alkaptonuria - Ochronosis / Alkaptonuria, Signs, symptoms & indicators of Ochronosis / Alkaptonuria: Symptoms - Nails, Blue and brown fingernails.
  • GeneReviews: Alkaptonuria - Your browser does not support HTML frames so you must view Alkaptonuria in a slightly less readable form. Please follow this link to do so.
  • MedicineNet.com : Alkaptonuria - An article about this disease beginning with an explanation as to what it is, followed by how it is inherited, how it affects the joints, symptoms, diagnosis and treatment.
  • ORPHANET® : Alkaptonuria - ORPHANET. ORPHANET database access. Alkaptonuria. Direct access to details Alias : Home Page.
  • SearchBug Open Directory -> Health -> Conditions_and_Diseases ... - Search: Alkaptonuria, Alkaptonuria - http://www.kfshrc.edu.sa/annals/185/98-055.html A brief discussion about this disease and its statistics world wide.
  • Turner Syndrome - NCERx presents the symptoms of and treatments for Turner Syndrome, a rare disease that affects only females.
  • University of Miami School of Medicine - Glossary - Alkaptonuria ... - Diseases and Conditions. Alkaptonuria (Ochronosis). Alkaptonuria is also known as homogentisic acid oxidase deficiency. Alkaptonuria At A Glance.