Megaconial Type Congenital Muscular Dystrophy
Disease ID: disease_node_17421
Connections displayed (default: 10).
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| Dbxref | ICD10CM:G71.2, MIM:602541, ORDO:280671 |
|---|---|
| Subclassof | DOID_0050737, DOID_0050557 |
| Data Source | DOID |
| Synonyms | congenital megaconial myopathy, congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect, congenital muscular dystrophy with mitochondrial structural abnormalities, megaconial congenital muscular dystrophy |
| Doid Label | megaconial type congenital muscular dystrophy |
| Doid Description | A congenital muscular dystrophy characterized by autosomal recessive inheritance of early-onset muscle wasting and intellectual disability with enlarged mitochondria that are more prevalent towards the periphery of the fibers that has_material_basis_in homozygous or compound heterozygous mutation in the CHKB gene on chromosome 22q13. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_17421 |
| Doid Id | DOID_0110632 |
| Disease Has Basis In | HP_0001197 |
| Label | Megaconial Type Congenital Muscular Dystrophy |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Congenital Muscular Dystrophy(ID:disease_node_17393) (Disease)