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loading...| Preferred Name |
HEREDITARY MYOPATHY WITH EARLY RESPIRATORY FAILURE |
| Synonyms |
MPRM |
| ID |
http://purl.bioontology.org/ontology/OMIM/603689 |
| altLabel |
MPRM EDSTROM MYOPATHY HMERF MYOPATHY, PROXIMAL, WITH EARLY RESPIRATORY MUSCLE INVOLVEMENT |
| cui |
C1863599 |
| Gene Locus |
2q31 |
| Gene Symbol |
MPRM SALMY LGMD2J TMD HMERF TTN CMD1G |
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
| notation |
603689 |
| OMIM Entry Type |
3 |
| OMIM MimType Value |
pound |
| prefLabel |
HEREDITARY MYOPATHY WITH EARLY RESPIRATORY FAILURE |
| tui |
T047 |
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| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.bioontology.org/ontology/MESH/C566343 | Medical Subject Headings | CUI | |
| http://purl.bioontology.org/ontology/MESH/C566343 | Medical Subject Headings | LOOM |