Nemaline Myopathy 3
Disease ID: disease_node_18932
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| Dbxref | MIM:161800 |
|---|---|
| Subclassof | DOID_3191, DOID_0050737 |
| Data Source | DOID |
| Synonyms | NEM3, congenital myopathy 2A, nemaline myopathy 3, autosomal dominant or recessive |
| Doid Label | nemaline myopathy 3 |
| Doid Description | A nemaline myopathy that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the ACTA1 gene on chromosome 1q42. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_18932 |
| Doid Id | DOID_0110927 |
| Label | Nemaline Myopathy 3 |
- 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)