Congenital Muscular Dystrophy
Disease ID: disease_node_17393
Connections displayed (default: 10).
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| Dbxref | GARD:9138, ICD9CM:359.0, MIM:254100, ORDO:97242, SNOMEDCT_US_2023_03_01:193221009, UMLS_CUI:C2937300 |
|---|---|
| Subclassof | DOID_0080015, DOID_9884 |
| Data Source | DOID |
| Doid Label | congenital muscular dystrophy |
| Doid Description | A muscular dystrophy that is characterized by diminished muscle tone (hypotonia), progressive muscle weakness and degeneration (atrophy), abnormally fixed joints, spinal rigidity, and delays in reaching motor milestones such as sitting or standing unassisted. Xref MGI. OMIM mapping confirmed by DO. [SN]. |
| Has Symptom | SYMP_0000363, SYMP_0000094 |
| Disease Node Id | disease_node_17393 |
| Doid Id | DOID_0050557 |
| Disease Has Basis In | HP_0001197 |
| Label | Congenital Muscular Dystrophy |
- 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) - Incoming r'ship
SUBCLASS_OFto/from Ullrich Congenital Muscular Dystrophy(ID:disease_node_17423) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Walker-Warburg Syndrome(ID:disease_node_12527) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Muscular Dystrophy-Dystroglycanopathy(ID:disease_node_17394) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Megaconial Type Congenital Muscular Dystrophy(ID:disease_node_17421) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Congenital Muscular Dystrophy Due To Lmna Mutation(ID:disease_node_17428) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Congenital Muscular Dystrophy 1B(ID:disease_node_17430) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Muscular Dystrophies(ID:disease_node_5318) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Congenital Muscular Dystrophy With Cataracts And Intellectual Disability(ID:disease_node_17422) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Physical Disorder(ID:disease_node_13159) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Congenital Muscular Dystrophy Due To Integrin Alpha-7 Deficiency(ID:disease_node_17429) (Disease)