Muscular Dystrophy, Duchenne
Disease ID: disease_node_10569
Connections displayed (default: 10).
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| Dbxref | GARD:6291, MESH:D020388, MIM:310200, NCI:C75482, SNOMEDCT_US_2023_03_01:155095006, UMLS_CUI:C0013264 |
|---|---|
| Subclassof | DOID_0080012, DOID_9884 |
| Data Source | DOID, MESH |
| Synonyms | Muscular dystrophy, Duchenne |
| Mesh Id | D020388 |
| Mesh Label | Muscular Dystrophy, Duchenne |
| Mesh Subclassof | D040181, D009136 |
| Doid Label | Duchenne muscular dystrophy |
| Doid Description | A muscular dystrophy that has_material_basis_in X-linked mutations in the DMD gene found on the X chromosome. It is characterized by rapidly progressing muscle weakness and muscle atrophy initially involving the lower extremities and eventually affecting the whole body. It affects males whereas females can be carriers. The symptoms start before the age of six and may appear at infancy. OMIM mapping confirmed by DO. [SN]. |
| Has Symptom | SYMP_0000363, SYMP_0000094 |
| Has Material Basis In | GENO_0000149 |
| Disease Node Id | disease_node_10569 |
| Doid Id | DOID_11723 |
| Label | Muscular Dystrophy, Duchenne |
- Outgoing r'ship
HAS_SYMPTOMto/from Muscle Weakness(ID:disease_node_9835;disease_node_21022) (Disease) - Outgoing r'ship
HAS_SYMPTOMto/from Progressive Weakness(ID:disease_node_21078) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from X-Linked Recessive Disease(ID:disease_node_13254) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Muscular Dystrophies(ID:disease_node_5318) (Disease)