Congenital Muscular Dystrophy-Dystroglycanopathy Type A
Disease ID: disease_node_17406
Connections displayed (default: 10).
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| Dbxref | MIM:PS236670, ORDO:352687 |
|---|---|
| Subclassof | DOID_0112374, DOID_0050737 |
| Data Source | DOID |
| Synonyms | MDDGA, congenital muscular alpha-dystroglycanopathy with brain and eye anomalies, klissencephaly type 2 with muscular and ocular involvement |
| Doid Label | congenital muscular dystrophy-dystroglycanopathy type A |
| Doid Description | A congenital muscular dystrophy-dystroglycanopathy characterized by cobblestone lissencephaly, muscle weakness, and brain and eye anomalies that has_material_basis_in autosomal recessive inheritance a defect in alpha-dystroglycan post-translational processing. |
| Has Symptom | SYMP_0000094 |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_17406 |
| Doid Id | DOID_0111229 |
| Disease Has Basis In | HP_0001197 |
| Label | Congenital Muscular Dystrophy-Dystroglycanopathy Type A |
- Outgoing r'ship
HAS_SYMPTOMto/from Muscle Weakness(ID:disease_node_9835;disease_node_21022) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Fukuyama Congenital Muscular Dystrophy(ID:disease_node_17415) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Congenital Muscular Dystrophy-Dystroglycanopathy Type A6(ID:disease_node_17416) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Congenital Muscular Dystrophy-Dystroglycanopathy Type A5(ID:disease_node_17417) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Congenital Muscular Dystrophy-Dystroglycanopathy Type A9(ID:disease_node_17412) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Congenital Muscular Dystrophy-Dystroglycanopathy Type A14(ID:disease_node_17411) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Congenital Muscular Dystrophy-Dystroglycanopathy Type A12(ID:disease_node_17409) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Congenital Muscular Dystrophy-Dystroglycanopathy Type A10(ID:disease_node_17419) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Congenital Muscular Dystrophy-Dystroglycanopathy Type A7(ID:disease_node_17410) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Congenital Muscular Dystrophy-Dystroglycanopathy Type A13(ID:disease_node_17420) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Congenital Muscular Dystrophy-Dystroglycanopathy Type A11(ID:disease_node_17414) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Congenital Muscular Dystrophy-Dystroglycanopathy Type A3(ID:disease_node_17408) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Muscular Dystrophy-Dystroglycanopathy(ID:disease_node_17394) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Congenital Muscular Dystrophy-Dystroglycanopathy Type A8(ID:disease_node_17413) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Congenital Muscular Dystrophy-Dystroglycanopathy Type A2(ID:disease_node_17418) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Congenital Muscular Dystrophy-Dystroglycanopathy Type A1(ID:disease_node_17407) (Disease)