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Dictionary » Sphingolipidosis


Introduction: Sphingolipidosis

Description of Sphingolipidosis

Sphingolipidosis (medical condition): A group of diseases involving the abnormal metabolism and storage...more »

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  »Introduction: Sphingolipidosis
  »Symptoms of Sphingolipidosis

Sphingolipidosis: A group of inherited metabolic disorders characterized by an excessive intra-lysosomal deposition of glycosphingolipids and phosphosphingolipids in the CENTRAL NERVOUS SYSTEM and, to a variable degree, in visceral structures. Clinical features vary with the specific subtype of the disease, but common features include progressive deterioration in psychomotor and visual function. (From Arch Neurol 1998 Aug;55(8):1055-6; Menkes, Textbook of Child Neurology, 5th ed, p89)
Source: Diseases Database

Sphingolipidosis: lysosomal storage diseases characterized by abnormal storage of spingolipids.
Source: CRISP

Sphingolipidosis: Related Topics

These medical condition or symptom topics may be relevant to medical information for Sphingolipidosis:

Sphingolipidosis: Rare Disease

Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)

Sphingolipidosis is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Sphingolipidosis, or a subtype of Sphingolipidosis, affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)

Sphingolipidosis as a Disease

Sphingolipidosis (medical condition): See Sphingolipidosis (disease information).
  »Introduction: Sphingolipidosis
  »Symptoms of Sphingolipidosis

Sphingolipidosis: Related Diseases

Sphingolipidosis: Sphingolipidosis is listed as a type of (or associated with) the following medical conditions in our database:

More information on medical condition: Sphingolipidosis:

Terms associated with Sphingolipidosis:

Terms Similar to Sphingolipidosis:

Source: Diseases Database

Source - NIH

More specific terms for Sphingolipidosis:

Source - CRISP

Broader terms for Sphingolipidosis

Source - CRISP

The term Sphingolipidosis can be used for:

Source: CRISP

Other terms that may be related to Sphingolipidosis:

Source: CRISP

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