Ullrich Congenital Muscular Dystrophy
Disease ID: disease_node_17423
Connections displayed (default: 10).
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| Dbxref | GARD:4769, ORDO:75840 |
|---|---|
| Subclassof | DOID_0050736, DOID_0050737, DOID_0050557 |
| Data Source | DOID |
| Synonyms | ULLRICH DISEASE, Ullrich scleroatonic muscular dystrophy |
| Doid Label | Ullrich congenital muscular dystrophy |
| Doid Description | A congenital muscular dystrophy that is characterized by congenital weakness, hypotonia, proximal joint contractures, marked hyperlaxity of the distal joints, with a loss of ambulation (if achieved) and uniform respiratory insufficiency during childhood that has_material_basis_in mutations in COL6A1, COL6A2 and COL6A3 genes. |
| Has Symptom | SYMP_0000094 |
| Has Material Basis In | GENO_0000147, GENO_0000148 |
| Disease Node Id | disease_node_17423 |
| Doid Id | DOID_0050558 |
| Disease Has Basis In | HP_0001197 |
| Label | Ullrich Congenital Muscular Dystrophy |
- Outgoing r'ship
HAS_SYMPTOMto/from Muscle Weakness(ID:disease_node_9835;disease_node_21022) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Congenital Muscular Dystrophy(ID:disease_node_17393) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Ullrich Congenital Muscular Dystrophy 1B(ID:disease_node_17427) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Ullrich Congenital Muscular Dystrophy 1A(ID:disease_node_17425) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Ullrich Congenital Muscular Dystrophy 2(ID:disease_node_17424) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Ullrich Congenital Muscular Dystrophy 1C(ID:disease_node_17426) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease)