Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
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Preferred Name

SUCRASE-ISOMALTASE DEFICIENCY, CONGENITAL
Synonyms

SUCROSE INTOLERANCE, CONGENITAL
ID

http://purl.bioontology.org/ontology/OMIM/222900
altLabel

SUCROSE INTOLERANCE, CONGENITAL

SUCROSE-ISOMALTOSE MALABSORPTION, CONGENITAL

SI DEFICIENCY

DISACCHARIDE INTOLERANCE I

CSID
cui

C1283620
Gene Locus

3q25-q26
Gene Symbol

SI
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

222900
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

SUCRASE-ISOMALTASE DEFICIENCY, CONGENITAL
tui

T047
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http://purl.bioontology.org/ontology/MESH/C538139 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/C538139 Medical Subject Headings LOOM
http://purl.bioontology.org/ontology/ICD10CM/E74.31 International Classification of Diseases, Version 10 - Clinical Modification CUI