Nemaline Myopathy 5B
Disease ID: disease_node_18935
Connections displayed (default: 10).
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| Dbxref | MIM:620386 |
|---|---|
| Subclassof | DOID_3191, DOID_0050737 |
| Data Source | DOID |
| Doid Label | nemaline myopathy 5B |
| Doid Description | A nemaline myopathy that has_material_basis_in autosomal recessive inheritance of a homozygous or compound heterozygous mutation in the TNNT1 gene on chromosome 19q13, with childhood onset. |
| Existence Starts During | HP_0011463 |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_18935 |
| Doid Id | DOID_0081374 |
| Label | Nemaline Myopathy 5B |
- 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)