GARD - Genetic and Rare Diseases Information Center
Browse by Disease Explore GARD's list of rare diseases. Filter by category or search by disease name, acronym, or synonym. Rare diseases found on GARD should not be used as policy statements of …
Genetic and Rare Diseases Information Center | GARD
The mission of the Genetic and Rare Diseases (GARD) Information Center is to help the rare disease community meet these common challenges. We do this by providing free access to reliable and easy …
About | GARD - Genetic and Rare Diseases Information Center
At the Genetic and Rare Diseases (GARD) Information Center, our mission is to support people living with a rare disease and their families by providing free access to reliable, easy-to-understand …
Ehlers-Danlos syndrome | About the Disease | GARD - Genetic and Rare ...
Disease Information Summary Ehlers-Danlos syndromes (EDS) are a group of inherited connective tissue disorders caused by abnormalities in the structure, production, and/or processing of collagen. …
Neurodevelopmental disorder with microcephaly, hypotonia, and …
The National Organization for Rare Disorders (NORD) maintains a list of rare disease centers with experts that work together to find treatments and cures for a broad range of rare diseases.
Phenylketonuria | About the Disease | GARD - Genetic and Rare …
Disease Information Summary Phenylketonuria (PKU) is a genetic metabolic disorder that increases the body's levels of phenylalanine. Phenylalanine is one of the building blocks (amino acids) of proteins. …
Leukodystrophy | About the Disease | GARD - Genetic and Rare …
A Leukodystrophy is a type of rare genetic disorder that affects the brain, spinal cord, and other nerves in the body. It is caused by destruction of the white matter of the brain.
Muscular dystrophy | About the Disease | GARD - Genetic and Rare ...
People living with rare diseases often face challenges such as delayed diagnosis, limited treatment options, and difficulty accessing knowledgeable providers. Building a care team that understands …
GARD - Genetic and Rare Diseases Information Center
GARD uses data collected from Orphanet, Online Mendelian Inheritance in Man (OMIM) , and Mondo Disease Ontology to interpret and provide information on rare diseases.
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