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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/618578
http://purl.bioontology.org/ontology/OMIM/618578
|
|---|---|
| Preferred Name | CONGENITAL MYOPATHY 19 |
| Synonyms |
MYOSCO
CMYO19
MYOPATHY, CONGENITAL, PROGRESSIVE, WITH SCOLIOSIS
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
MYOSCO
CMYO19
MYOPATHY, CONGENITAL, PROGRESSIVE, WITH SCOLIOSIS
|
|---|---|
| prefLabel | CONGENITAL MYOPATHY 19
|
| Gene Symbol |
PAX7
RMS2
CMYO19
|
| Scope Statement | Caused by mutation in the paired box gene 7 gene (PAX7, 167410.0001) [MOLECULAR BASIS]
Onset in infancy [MISCELLANEOUS]
Variable severity [MISCELLANEOUS]
Patient 1 was the most severely affected and had extra-skeletal congenital anomalies [MISCELLANEOUS]
Progressive disorder [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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See less
|
| tui | T047
|
| Gene Locus | 1p36.2-p36.12
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 618578
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C5231417
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |