Congenital Muscular Dystrophy Due To Integrin Alpha-7 Deficiency
Disease ID: disease_node_17429
Connections displayed (default: 10).
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| Dbxref | ICD10CM:G71.2, MIM:613204, ORDO:34520 |
|---|---|
| Subclassof | DOID_0050737, DOID_0050557 |
| Data Source | DOID |
| Synonyms | congenital muscular dystrophy with ITGA7 deficiency, congenital muscular dystrophy with integrin alpha-7 deficiency, congenital myopathy due to integrin alpha-7 deficiency |
| Doid Label | congenital muscular dystrophy due to integrin alpha-7 deficiency |
| Doid Description | A congenital muscular dystrophy characterized by autosomal recessive inheritance that has_material_basis_in compound heterozygous mutation in the ITGA7 gene on chromosome 12q13. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_17429 |
| Doid Id | DOID_0110639 |
| Disease Has Basis In | HP_0001197 |
| Label | Congenital Muscular Dystrophy Due To Integrin Alpha-7 Deficiency |
- 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)