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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/600638
http://purl.bioontology.org/ontology/OMIM/600638
|
|---|---|
| Preferred Name | FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT |
| Synonyms |
CFEOM3A
FEOM3 LOCUS
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
CFEOM3A
FEOM3 LOCUS
|
|---|---|
| prefLabel | FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT
|
| Gene Symbol |
CFEOM3A
CDCBM1
TUBB4
TUBB3
|
| Scope Statement | Caused by mutation in the tubulin beta-3 gene (TUBB3, 602661.0001) [MOLECULAR BASIS]
Some patients have isolated CFEOM [MISCELLANEOUS]
Variable phenotype [MISCELLANEOUS]
Some patients have additional neurologic involvement [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 16q24.3
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 600638
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C2748801
|
| Moved from | 604361
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |