Nemaline Myopathy 9
Disease ID: disease_node_18938
Connections displayed (default: 10).
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| Dbxref | MIM:615731 |
|---|---|
| Subclassof | DOID_3191, DOID_0050737 |
| Data Source | DOID |
| Synonyms | NEM9 |
| Doid Label | nemaline myopathy 9 |
| Doid Description | A nemaline myopathy characterized by onset in early infancy of muscle weakness with variable severity that has_material_basis_in homozygous or compound heterozygous mutation in the KLHL41 gene on chromosome 2q31. |
| Has Symptom | SYMP_0000094 |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_18938 |
| Doid Id | DOID_0110929 |
| Label | Nemaline Myopathy 9 |
- Outgoing r'ship
HAS_SYMPTOMto/from Muscle Weakness(ID:disease_node_9835;disease_node_21022) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Myopathies, Nemaline(ID:disease_node_9296) (Disease)