Details of Disease | DrugMAP

General Information of Disease (ID: DISXH2KM)

Disease Name	Olmsted syndrome, X-linked
Synonyms	Olmsted syndrome, X-linked; palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, X-linked; Olmsted syndrome, X-linked, X-linked recessive
Disease Hierarchy	DISB4C35: Olmsted syndrome DISXH2KM: Olmsted syndrome, X-linked
Disease Identifiers	MONDO ID MONDO_0010486 UMLS CUI C3806745 OMIM ID 300918 MedGen ID 813075

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
MBTPS2	OT67CC7W	Limited	X-linked	[1]
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References

1	Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.