Nemaline Myopathy 11
Disease ID: disease_node_18933
Connections displayed (default: 10).
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| Dbxref | MIM:617336 |
|---|---|
| Subclassof | DOID_3191, DOID_0050737 |
| Data Source | DOID |
| Synonyms | NEM11, nemaline myopathy 11, autosomal recessive |
| Doid Label | nemaline myopathy 11 |
| Doid Description | A nemaline myopathy characterized by onset of slowly progressive muscle weakness in the first decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the MYPN gene on chromosome 10q21. |
| Has Symptom | SYMP_0000363, SYMP_0000094 |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_18933 |
| Doid Id | DOID_0110933 |
| Label | Nemaline Myopathy 11 |
- Outgoing r'ship
HAS_SYMPTOMto/from Muscle Weakness(ID:disease_node_9835;disease_node_21022) (Disease) - Outgoing r'ship
HAS_SYMPTOMto/from Progressive Weakness(ID:disease_node_21078) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Myopathies, Nemaline(ID:disease_node_9296) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)