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DO Term : congenital sucrase-isomaltase deficiency [DOID:0111633] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

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.

synonyms:
MESH:C538139,
222900,
NCI:C128190,
MEDDRA:10066387,
GARD:7710,
SI deficiency,
ORDO:35122,
congenital sucrase-isomaltose malabsorption,
disaccharide intolerance,
congenital sucrose intolerance,
SNOMEDCT_US_2023_03_01:78373000,
OMIM:222900,
CSID,
ICD10CM:E74.31,
UMLS_CUI:C1283620

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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