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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/229800
http://purl.bioontology.org/ontology/OMIM/229800
|
|---|---|
| Preferred Name | FRUCTOSURIA, ESSENTIAL |
| Synonyms |
HEPATIC FRUCTOKINASE DEFICIENCY
KETOHEXOKINASE DEFICIENCY
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
HEPATIC FRUCTOKINASE DEFICIENCY
KETOHEXOKINASE DEFICIENCY
|
|---|---|
| prefLabel | FRUCTOSURIA, ESSENTIAL
|
| Gene Symbol |
KHK
FRUCTU
|
| Scope Statement | Caused by mutation in the ketohexokinase gene (KHK, 614058.0001) [MOLECULAR BASIS]
Benign, asymptomatic defect [MISCELLANEOUS]
|
| type | |
| Has manifestation | |
| tui | T047
|
| Gene Locus | 2p23.3-p23.2
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 229800
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C0268160
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |