Fatal Infantile Hypertonic Myofibrillar Myopathy
Disease ID: disease_node_18977
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| Dbxref | MIM:613869 |
|---|---|
| Subclassof | DOID_0080307, DOID_0050737 |
| Data Source | DOID |
| Doid Label | fatal infantile hypertonic myofibrillar myopathy |
| Doid Description | A myofibrillar myopathy that has_material_basis_in homozygous mutation in the CRYAB gene on chromosome 11q23. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_18977 |
| Doid Id | DOID_0080309 |
| Label | Fatal Infantile Hypertonic Myofibrillar Myopathy |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)