About   Help   FAQ
Disease Ontology Browser
hereditary fructose intolerance syndrome (DOID:9869)
Alliance: disease page
Synonyms: Fructosaemia; Fructose-1,6-bisphosphate aldolase B deficiency; Fructosemia
Alt IDs: OMIM:229600, ICD10CM:E74.12, ICD9CM:271.2, MESH:D005633, NCI:C84720, UMLS_CUI:C0016751
Definition: A carbohydrate metabolic disorder characterized by recurrent vomiting, abdominal pain, and hypoglycemia that may be fatal after introduction of fructose or sucrose to the diet that has_material_basis_in homozygous or compound heterozygous mutation in the aldolase B gene (ALDOB) on chromosome 9q31.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory