Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024
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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
ID

http://purl.bioontology.org/ontology/OMIM/229600
altLabel

ALDOLASE B DEFICIENCY

FRUCTOSEMIA

HFI

FRUCTOSE-1,6-BISPHOSPHATE ALDOLASE B DEFICIENCY

FRUCTOSE-1-PHOSPHATE ALDOLASE DEFICIENCY

ALDOB DEFICIENCY
cui

C0016751
Gene Locus

9q22.3
Gene Symbol

ALDOB
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU009985

http://purl.bioontology.org/ontology/OMIM/MTHU036407

http://purl.bioontology.org/ontology/OMIM/MTHU036657

http://purl.bioontology.org/ontology/OMIM/MTHU026133

http://purl.bioontology.org/ontology/OMIM/MTHU000371

http://purl.bioontology.org/ontology/OMIM/MTHU026130

http://purl.bioontology.org/ontology/OMIM/MTHU026132

http://purl.bioontology.org/ontology/OMIM/MTHU026129

http://purl.bioontology.org/ontology/OMIM/MTHU026060

http://purl.bioontology.org/ontology/OMIM/MTHU006653

http://purl.bioontology.org/ontology/OMIM/MTHU004766

http://purl.bioontology.org/ontology/OMIM/MTHU000225

http://purl.bioontology.org/ontology/OMIM/MTHU002997

http://purl.bioontology.org/ontology/OMIM/MTHU036658

http://purl.bioontology.org/ontology/OMIM/MTHU036371

http://purl.bioontology.org/ontology/OMIM/MTHU002540

http://purl.bioontology.org/ontology/OMIM/MTHU000081

http://purl.bioontology.org/ontology/OMIM/MTHU002081

http://purl.bioontology.org/ontology/OMIM/MTHU002455

http://purl.bioontology.org/ontology/OMIM/MTHU024652

http://purl.bioontology.org/ontology/OMIM/MTHU002080

http://purl.bioontology.org/ontology/OMIM/MTHU036852

http://purl.bioontology.org/ontology/OMIM/MTHU000242

http://purl.bioontology.org/ontology/OMIM/MTHU026131
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

229600
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

FRUCTOSE INTOLERANCE, HEREDITARY
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]
tui

T047
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