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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/616720
http://purl.bioontology.org/ontology/OMIM/616720
|
|---|---|
| Preferred Name | MYASTHENIC SYNDROME, CONGENITAL, 19 |
| Synonyms |
CMS19
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | CMS19
|
|---|---|
| prefLabel | MYASTHENIC SYNDROME, CONGENITAL, 19
|
| Gene Symbol |
COL13A1
CMS19
|
| Scope Statement | Caused by mutation in the collagen, type XIII, alpha-1 gene (COL13A1, 120350.0001) [MOLECULAR BASIS]
Onset at birth [MISCELLANEOUS]
Three patients from 2 unrelated families have been reported (last curated December 2015) [MISCELLANEOUS]
Possible benefit from treatment with 3,4-diaminopyridine and salbutamol [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 10q22
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 616720
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C4225235
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |