List of Rare Diseases
List of Rare Diseases | A-Z Database | NORD
The NORD Rare Disease Database is an inclusive and comprehensive list of rare diseases based on information from established rare disease ontologies and it is ...
GARD - Genetic and Rare Diseases Information Center
Browse by Disease · 10q22.3q23.3 microdeletion syndrome · 10q22.3q23.3 microduplication syndrome · 11p15.4 microduplication syndrome · 11q22.2q22.3 microdeletion ...
Category:Rare diseases - Wikipedia
D · D-Glyceric acidemia · Danon disease · Darier's disease · GLUT1 deficiency · Deficiency of the interleukin-1–receptor antagonist · Degos disease · Dejerine–Sottas ...
Rare Disease Articles (Symptoms, Diagnostic Workup, Treatment)
Rare Diseases · Acrodermatitis Enteropathica · Alkaptonuria (Black Urine Disease) · Carnitine Deficiency · Cerebrotendinous Xanthomatosis (CTX) · Congenital Adrenal ...
National Organization for Rare Disorders | NORD
NORD is dedicated to supporting education, elevating care, advancing research, and driving policy for rare diseases.
List of rare diseases and synonyms in alphabetical order | Orphanet
Orphanet provides a comprehensive list of all rare diseases registered in the Orphanet database, published annually. In Orphanet, rare diseases ...
Rare Diseases List - Rare Genomics Institute
Rare Disease List · 15q 26.2 Deletion · 48,XXYY Syndrome · Abetalipoproteinemia · Acute Hepatic Porphyria/Acute Intermittent Porphyria (AIP) · Acute Flaccid ...
Knowledge on rare diseases and orphan drugs - Orphanet
Orphanet maintains the Orphanet nomenclature of rare diseases, essential in improving the visibility of rare diseases in health and research information ...
Rare Diseases and Disorders We Treat | UPMC Children's Hospital
Common Types of Rare Diseases in Kids · Alpha-1-Antitrypsin Deficiency (AATD). This disease can cause liver and lung damage. · Fabry Disease. When a child's body ...
Rare diseases - World Health Organization (WHO)
What is the ICD? The International Classification serves to record and report health and health-related conditions globally. · Does ICD-11 include Rare Diseases?
A-Z Rare Diseases – Rare Awareness Rare Education - RARE Portal
A more exhaustive list of rare disease information pages can be found at the Genetic and Rare Diseases (GARD) Information Center and Orphanet websites.
Genetic and Rare Diseases Information Center | GARD
Discover how the Genetic and Rare Diseases Information Center Website and Contact Center can help patients and families who have a rare disease.
Rare diseases - Public Health - European Commission
Rare diseases · between 27 and 36 million people live with a rare disease · between 6 000 and 8 000 distinct rare diseases are estimated to exist today · while one ...
MRDS Rare Diseases List - Malaysian Rare Disorders Society
Over six to seven thousand rare diseases have been discovered and these diseases are serious, often chronic and progressive. There is no cure for most of rare ...
Rare Diseases PHGKB|Public Health Genomics and Precision ...
Selected Rare Diseases · Alpha-1 Antitrypsin Deficiency · Amyotrophic Lateral Sclerosis · Brugada Syndrome · Cerebral Palsy · Cystic Fibrosis · Duchenne Muscular ...
The Orphan Drug Act defines a rare disease as a disease or condition that affects less than 200,000 people in the United States. Back to top.
Over 10,000 diseases have been classified as a rare disease, start your search here to learn more about your disease state.
What are rare diseases? | Genetic disorders | Beacon
What are the most common rare diseases? · Ehlers –Danlos Syndrome (EDS) · Sickle Cell · Cystic Fibrosis · Duchenne Muscular Dystrophy (DMD) · Haemophilia.
Rare Diseases | Health Department Haryana | India
7. Osteopetrosis, 8. Fanconi Anemia ; 9. Laron's Syndrome, 10. Tyrosinemia ; 11. Glycogen storage disorders (GSD) I, III and IV, 12. Multiple liver adenomas ; 13.
Rare Disease: Pioneering the Science of Breakthroughs - Pfizer
We bring deep scientific expertise and years of exploring medical frontiers. Our partners are some of the world's leading research organizations. Together we ...