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Glycogen Storage disease: Type 3
Cori Disease, Amylo-1, 6-glucosidase deficiency, Debrancher deficiency, Glucogenesis type III
: Glycogen Storage Disease type 3 (GSD 3) is an inherited metabolic disease which is characterized by an enlarged liver, muscle weakness, low blood sugar and growth delay. These problems result from a defect in an enzyme called amylo-1, 6-glucosidase, which is needed for the proper conversion of glycogen into glucose. There are two types of GSD3, type a and b. GSD3a involves both the liver and mus...
Glycogen-Storage Disease Type VI
Hers disease
Glycogen-storage disease type VI (GSD VI) is a rare, inherited condition characterized by low blood sugar (hypoglycemia) during periods of brief fasting. The human body uses sugar (glucose) as its main source of energy. During fasting, blood sugar levels must be maintained at adequate levels in order for the body to function properly. After eating, sugar from the digestion of food is stored in the...
Goldenhar Syndrome
Oculo-Auriculo-Veterbral Spectrum, Hemifacial microsomia
Goldenhar Syndrome is a rare genetic syndrome that is present at birth and results in multiple anomalies of the face. There is a wide spectrum of symptoms and facial involvement with the structures most commonly affected being the cheekbones, jawbones, and the bony structures of the lower skull
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Goodpasture's Syndrome
Anti-Glomerular Basement Membrane Antibody Disease,
Anti GBM disease, Pulmonary Renal Syndrome
Goodpasture’s syndrome (GS) is a disorder of the immune system. Normally, the immune system creates special cells and proteins (known as antibodies) designed to help the body fight off foreign agents, such as infectious bacteria or viruses. An autoimmune disorder occurs when the immune system recognizes a normal substance in the body as foreign and begins to attack it. In Goodpasture’s syndrome, t...
Gorham Stout Disease (GSD)
Gorham's Disease; Massive Osteolysis; Disappearing Bone Disease; Lymphangiomatosis; Gorham Stout Syn
Gorham Stout Disease (GSD) is a rare condition that is characterized by destruction of bone (osteolysis) that is often associated with the abnormal swelling of blood vessels (angiomatosis). In contrast to the natural process of bone growth that involves both production and destruction, GSD represents persistent bone destruction without production.
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Full disease list by letter:
3 |
A |
B |
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D |
E |
F |
G |
H |
I |
J |
K |
L |
M |
N |
O |
P |
R |
S |
T |
U |
V |
W |
X |
Y |
Z |
All