Congenital Muscular Dystrophy 1B
Disease ID: disease_node_17430
Connections displayed (default: 10).
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| Dbxref | ICD10CM:G71.2, MIM:604801, ORDO:98893 |
|---|---|
| Subclassof | DOID_0050737, DOID_0050557 |
| Data Source | DOID |
| Synonyms | CMD1B, MDC1B, congenital muscular dystrophy type 1B |
| Doid Label | congenital muscular dystrophy 1B |
| Doid Description | A congenital muscular dystrophy characterized by autosomal recessive inheritance of proximal muscle weakness, muscle hypertrophy, and early respiratory failure that has_material_basis_in variation in the chromosome region 1q42. |
| Has Symptom | SYMP_0000094 |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_17430 |
| Doid Id | DOID_0110634 |
| Disease Has Basis In | HP_0001197 |
| Label | Congenital Muscular Dystrophy 1B |
- Outgoing r'ship
HAS_SYMPTOMto/from Muscle Weakness(ID:disease_node_9835;disease_node_21022) (Disease) - 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)