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Regulation of Transcription Ontology
Last uploaded:
December 4, 2018
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| Preferred Name | Muscular dystrophy congenital LMNA-related | |
| Synonyms |
MDCL |
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| Definitions |
(MDCL) - A form of congenital muscular dystrophy. Patients present at birth, or within the first few months of life, with hypotonia, muscle weakness and often with joint contractures. |
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| ID |
http://identifiers.org/omim/613205 |
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| altLabel |
MDCL
|
|
| definition |
(MDCL) - A form of congenital muscular dystrophy. Patients present at birth, or within the first few months of life, with hypotonia, muscle weakness and often with joint contractures.
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|
| id |
OMIM:613205
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|
| notation |
OMIM:613205
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| prefLabel |
Muscular dystrophy congenital LMNA-related
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| subClassOf |
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