Zinsser Cole Engman Syndrome
Zinsser Cole Engman Syndrome is also known as Cole's syndrome, Cole Rauschkolb Toomey syndrome, Hoyeraal Hreidarsson Syndrome, Zinsser's syndrome, Zinsser Fanconi Cole- Rauschkolb Toomey syndrome, Engman's syndrome, Dyschromatosis Universalis Hereditaria,
Dyskeratosis Congenita Syndrome, Dyskeratosis Congenita, Dyskeratosis Congenita (Autosomal Recessive), Dyskeratosis Congenita (Scoggins Type).
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Acid Beta glucosidase Deficiency
Acid- beta glucosidase deficiency is the most common of the lysosomal storage diseases. It is caused by a hereditary deficiency of the enzyme glucocerebrosidase (also known as acid รข-glucosidase), leading to an accumulation of its substrate, the fatty substance glucocerebroside. Fatty material can collect in the
spleen,
liver, kidneys, lungs, brain and
bone marrow.
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Angioedema Hereditary
Hereditary angioedema (HAE) is an autosomal dominant disorder of C1 inhibitor (C1-INH) deficiency manifested by painless, nonpruritic, and nonpitting swelling of the skin. In hereditary angioedema, specific stimuli that have previously led to attacks may need to be avoided in the future. Individuals with hereditary angioedema may also have systemic
lupus erythematosus or other
autoimmune disorders.
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Gillespie Syndrome
It is laso known as Aniridia, Cerebella Ataxia,
mental deficiency, Aniridia, Cerebella Ataxia, Mental Retardation,Partial Aniridia, Cerebella Ataxia, Mental Retardation,Partial Aniridia, Cerebella Ataxia, Oligophrenia
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Gilford Syndrome
It is also known as Hutchinson-Gilford progeria, Hutchinson-Gilford syndrome, Hutchinson-Gilford disease,Souques-
Charcot syndrome (a variant of this syndrome)
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Gilchrist Disease
It is also called as Chicago disease, Gilchrist?s
mycosis. It is a chronic granulomatous and suppurative systemic disease caused by the fungus Blastomyes dermatiditis.The skin lesions are charecterized by papules or papulopustules which develop in to crusted, warty eruptions and discharging
sinuses.
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Giant platelet syndrome
It is also called as
Bernard-Soulier syndrome. It usually occurs in newboen or early child hood. In this condition there will be lack of ability of the platelets to stick to the blood vessel which is injured resulting in abnormla bleeding.
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Gilbert Dreyfus Syndrome
It is also called as partial
testicular feminization or Lubs syndrome. It is a condition in which there is partal resistant to male hormones,
androgens. The affected individual has physical charecteristics of a woman, despite of genetic make up of a man.
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Young Female Arteritis
Young Female Arteritis is also known as
Takayasu's arteritis is a type of
vasculitis which is rare group of disorders which causes
blood vessel inflammation. It is a chronic progressive, inflammatory disease which leads to the occlusion of the
aorta and its branches, even pulmonary arteries can be involved in the disease.
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Gilbert Syndrome
It is an herditary disease cause for increased
bilirubin. It is an autosomal recessive condition charecterized by intermittent
jaundice int he absence of
hemolysis or
liver disease.It is seen in 5% of the population.The main feature is that it causes jaundice which do not need treatment, caused by unconjugated bilirubin in the blood stream. It is benign condition with no mortality or morbidity.
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