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Medical Subject Headings
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/MESH/C580012
http://purl.bioontology.org/ontology/MESH/C580012
|
|---|---|
| Preferred Name | congenital fibrosis of the extraocular muscles |
| Synonyms |
Congenital External Ophthalmoplegia
Cfeom
General Fibrosis Syndrome
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
Congenital External Ophthalmoplegia
Cfeom
General Fibrosis Syndrome
|
|---|---|
| prefLabel | congenital fibrosis of the extraocular muscles
|
| Scope Statement | Includes several inherited STRABISMUS syndromes characterized by congenital restrictive ophthalmoplegia affecting extraocular muscles innervated by the oculomotor and/or trochlear nerves. Classic CFEOM is characterized by bilateral BLEPHAROPTOSIS and ophthalmoplegia with the eyes fixed about 20 to 30 degrees below the horizontal midline. Horizontal extraocular muscles may also be involved. If all affected members of a family have the classic phenotype with bilateral involvement, the disorder is referred to as CFEOM1, which is caused by mutations in the KIF21A (a KINESIN) gene. OMIM: 135700
|
| type | |
| tui | T047
|
| HM |
D000093922
D009886
|
| SC | 3
|
| TERMUI |
T841178
T001119074
T841175
T841174
|
| TH | GHR (2014)
|
| MMR | 20221102
|
| notation | C580012
|
| Semantic type UMLS property | |
| cui |
C1302995
C4721888
|
| MeSH Frequency | 43
|
| PI |
*FIBROSIS (2017-2022)
*EYE DISEASES, HEREDITARY (2013-2016)
|
| DSC | 20131024
|
| Inverse of RB | 0
|
| Mapped to | |
| MDA | 20131024
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |