Congenital Myopathy 10B
Disease ID: disease_node_18943
Connections displayed (default: 10).
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| Dbxref | MIM:620249 |
|---|---|
| Subclassof | DOID_0050737, DOID_0081337 |
| Data Source | DOID |
| Doid Label | congenital myopathy 10B |
| Doid Description | A congenital myopathy that is characterized by infantile- or childhood-onset myopathy, areflexia, dysphagia, and respiratory distress that usually requires nocturnal ventilation and that has_material_basis_in homozygous or compound heterozygous mutation in the MEGF10 gene on chromosome 5q23. Biallelic mutation in the MEGF10 gene also causes a more severe congenital myopathy with overlapping features. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_18943 |
| Doid Id | DOID_0081345 |
| Label | Congenital Myopathy 10B |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Congenital Myopathy(ID:disease_node_18926) (Disease)