Fragile X Syndrome - FOLIO Ontology

Identification

IRI:

https://folio.openlegalstandard.org/RBm4FfOtNNc2YXqnz3Pkqce

Label Fragile X Syndrome

Preferred Label N/A

Identifier N/A

Alternative Labels

FXS Fragile X Mental Retardation Syndrome

Definition

Fragile X Syndrome is a genetic disorder caused by a mutation on the FMR1 gene located on the X chromosome. This mutation leads to a lack of the fragile X mental retardation protein (FMRP), which is crucial for normal brain development.

Class Relationships

Sub Class Of

• Congenital Disorders that Affect Multiple Body Systems

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

No

Source and Origin

No source or origin information available