ZFIN Human Disease: congenital sucrase-isomaltase deficiency

OBO ID: DOID:0111633

Term Name:	congenital sucrase-isomaltase deficiency		Search Ontology:
Synonyms:	congenital sucrase-isomaltose malabsorption congenital sucrose intolerance CSID disaccharide intolerance SI deficiency
Definition:	A carbohydrate metabolic disorder characterized by malabsorption of oligosaccharides and disaccharides that has_material_basis_in homozygous or compound heterozygous mutation in SI on chromosome 3q26.1. (2)
References:	GARD:7710 ICD10CM:E74.31 MEDDRA:10066387 MESH:C538139 NCI:C128190 OMIM:222900 ORDO:35122 SNOMEDCT_US_2023_03_01:78373000 UMLS_CUI:C1283620
Ontology:	Human Disease ( DOID:0111633 )

Relationships

is a type of:	autosomal recessive disease carbohydrate metabolic disorder physical disorder autosomal recessive disease carbohydrate metabolic disorder physical disorder Show first 5 Terms

OTHER congenital sucrase-isomaltase deficiency PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
SI	si	Sucrase-isomaltase deficiency, congenital	222900

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None