Tay-Sachs Disease - FOLIO Ontology

Identification

IRI:

https://folio.openlegalstandard.org/RCeiGFdK6TTSZb0MaH3Uj3P

Label Tay-Sachs Disease

Preferred Label N/A

Identifier N/A

Alternative Labels

GM2 Gangliosidosis Type I Hexosaminidase A Deficiency

Definition

Tay-Sachs disease is a rare, inherited neurodegenerative disorder caused by a deficiency of the enzyme hexosaminidase A. This deficiency leads to the accumulation of GM2 gangliosides, which are toxic to nerve cells.

Class Relationships

Sub Class Of

• Congenital Disorders that Affect Multiple Body Systems
• Neurocognitive Disorders

Is Defined By

N/A

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Additional Information

Metadata

Comment

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Description

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Notes

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Editorial Information

History Note

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Editorial Note

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Deprecated

Source and Origin

No source or origin information available