Details of Disease | DrugMAP

General Information of Disease (ID: DISK1HCT)

Disease Name	Intermediate severe Salla disease
Synonyms	Intermediate Salla disease
Disease Hierarchy	DIS6ZIDS: Disorder of carbohydrate transmembrane transport and absorption DISBHKLW: Free sialic acid storage disease DISK1HCT: Intermediate severe Salla disease
Disease Identifiers	MONDO ID MONDO_0017737 UMLS CUI C5681076 MedGen ID 1843217 Orphanet ID 309331

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC17A5	DTWLACT	Supportive	Autosomal recessive	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SLC17A5	OTM5EC0O	Supportive	Autosomal recessive	[1]
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References

1	Free Sialic Acid Storage Disorders. 2003 Jun 13 [updated 2020 Jan 23]. 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.