Link to this page
Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/229600
http://purl.bioontology.org/ontology/OMIM/229600
|
|---|---|
| Preferred Name | FRUCTOSE INTOLERANCE, HEREDITARY |
| Synonyms |
ALDOLASE B DEFICIENCY
FRUCTOSEMIA
HFI
FRUCTOSE-1,6-BISPHOSPHATE ALDOLASE B DEFICIENCY
FRUCTOSE-1-PHOSPHATE ALDOLASE DEFICIENCY
ALDOB DEFICIENCY
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
ALDOLASE B DEFICIENCY
FRUCTOSEMIA
HFI
FRUCTOSE-1,6-BISPHOSPHATE ALDOLASE B DEFICIENCY
FRUCTOSE-1-PHOSPHATE ALDOLASE DEFICIENCY
ALDOB DEFICIENCY
See more
See less
|
|---|---|
| prefLabel | FRUCTOSE INTOLERANCE, HEREDITARY
|
| Gene Symbol | ALDOB
|
| Scope Statement | Symptoms can be prevented by strict dietary restriction [MISCELLANEOUS]
Persistent exposure to fructose leads to chronic liver and kidney complications [MISCELLANEOUS]
Onset in infancy after weaning [MISCELLANEOUS]
Caused by mutation in the aldolase B, fructose-bisphosphate gene (ALDOB, 612724.0001) [MOLECULAR BASIS]
Some patients with heterozygous mutations may be symptomatic [MISCELLANEOUS]
|
| type | |
| Has manifestation |
See more
See less
|
| tui | T047
|
| Gene Locus | 9q22.3
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 229600
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C0016751
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |