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Medical Subject Headings
Last uploaded:
August 28, 2024
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| Preferred Name | Congenital myasthenic syndrome with episodic apnea | |
| Synonyms |
Congenital myasthenic syndrome type 1a Myasthenia, Familial Infantile Myasthenia familial infantile Myasthenic Syndrome, Congenital, Associated With Episodic Apnea Myasthenic syndrome, presynaptic, congenital, associated with episodic apnea Myasthenic syndrome congenital associated with episodic apnea Congenital Myasthenic Syndrome Type Ia |
|
| ID |
http://purl.bioontology.org/ontology/MESH/C535759 |
|
| altLabel |
Congenital myasthenic syndrome type 1a Myasthenia, Familial Infantile Myasthenia familial infantile Myasthenic Syndrome, Congenital, Associated With Episodic Apnea Myasthenic syndrome, presynaptic, congenital, associated with episodic apnea Myasthenic syndrome congenital associated with episodic apnea Congenital Myasthenic Syndrome Type Ia
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|
| cui |
C0393929
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|
| HM |
D009157 D001049
|
|
| Inverse of RB |
0
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|
| Mapped to | ||
| MDA |
20100825
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|
| MeSH Frequency |
4
|
|
| MMR |
20120824
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|
| notation |
C535759
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|
| prefLabel |
Congenital myasthenic syndrome with episodic apnea
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|
| SC |
3
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|
| TERMUI |
T737132 T801664 T737134 T737133 T801669 T801667 T737136 T737130
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|
| TH |
OMIM (2013) ORD (2010)
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|
| tui |
T047
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