Details of Disease | DrugMAP

General Information of Disease (ID: DISJ3BV1)

Disease Name	Symptomatic form of fragile X syndrome in female carrier
Disease Hierarchy	DISE8W3A: Fragile X syndrome DISYHHEN: Premature ovarian failure 1 DISJ3BV1: Symptomatic form of fragile X syndrome in female carrier
Disease Identifiers	MONDO ID MONDO_0018670 UMLS CUI C5681104 MedGen ID 1814467 Orphanet ID 449291 SNOMED CT ID 1237344003

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
FMR1	OTWEV0T5	Supportive	X-linked	[1]
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References

1	FMR1 Disorders. 1998 Jun 16 [updated 2024 May 16]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(?) [Internet]. Seattle (WA): University of Washington, Seattle; 1993C2024.