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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/230000
http://purl.bioontology.org/ontology/OMIM/230000
|
|---|---|
| Preferred Name | FUCOSIDOSIS |
| Synonyms |
ALPHA-L-FUCOSIDASE DEFICIENCY
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | ALPHA-L-FUCOSIDASE DEFICIENCY
|
|---|---|
| prefLabel | FUCOSIDOSIS
|
| Gene Symbol | FUCA1
|
| Scope Statement | Two types - severe infantile form (type I) and milder form (type II) [MISCELLANEOUS]
Majority of patients from Italy and Southwestern United States [MISCELLANEOUS]
Caused by mutation in the alpha-L-fucosidase gene (FUCA1, 612280.0001) [MOLECULAR BASIS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 1p34
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 230000
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C0016788
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
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| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |