Congenital Muscular Dystrophy Due To Lmna Mutation
Disease ID: disease_node_17428
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| Dbxref | ICD10CM:G71.2, MIM:613205, ORDO:157973 |
|---|---|
| Subclassof | DOID_0050736, DOID_0050557 |
| Data Source | DOID |
| Synonyms | L-CMD, LMNA-related congenital muscular dystrophy, congenital muscular dystrophy LMNA-related |
| Doid Label | congenital muscular dystrophy due to LMNA mutation |
| Doid Description | A congenital muscular dystrophy characterized by autosomal domit inheritance that has_material_basis_in heterozygous mutation in the LMNA gene on chromosome 1q22. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_17428 |
| Doid Id | DOID_0110640 |
| Disease Has Basis In | HP_0001197 |
| Label | Congenital Muscular Dystrophy Due To Lmna Mutation |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Congenital Muscular Dystrophy(ID:disease_node_17393) (Disease)