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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/614083
http://purl.bioontology.org/ontology/OMIM/614083
|
|---|---|
| Preferred Name | FANCONI ANEMIA, COMPLEMENTATION GROUP L |
| Synonyms |
FANCL
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | FANCL
|
|---|---|
| prefLabel | FANCONI ANEMIA, COMPLEMENTATION GROUP L
|
| Gene Symbol |
FANCL
PHF9
|
| Scope Statement | Caused by mutation in the FANCL gene (FANCL, 608111.0001) [MOLECULAR BASIS]
Four unrelated patients have been reported (last curated September 2015) [MISCELLANEOUS]
Highly variable phenotype [MISCELLANEOUS]
Two unrelated patients had multiple congenital anomalies and died in early infancy [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 2p16.1
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 614083
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C3469528
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |