Spinal Muscular Atrophies Of Childhood
Disease ID: disease_node_7964
Connections displayed (default: 10).
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| Dbxref | MESH:D014897, MIM:253550, NCI:C156310, SNOMEDCT_US_2023_03_01:128212001, UMLS_CUI:C0393538 |
|---|---|
| Subclassof | DOID_0060160, DOID_0050737 |
| Data Source | DOID, MESH |
| Synonyms | MUSCULAR ATROPHY, SPINAL, INFANTILE CHRONIC FORM, MUSCULAR ATROPHY, SPINAL, INTERMEDIATE TYPE, SMA II, SMA2, spinal muscular atrophy 2, spinal muscular atrophy type II |
| Mesh Id | D014897 |
| Mesh Label | Spinal Muscular Atrophies of Childhood |
| Mesh Subclassof | D009134, D020271 |
| Doid Label | intermediate spinal muscular atrophy |
| Doid Description | A childhood spinal muscular atrophy that is characterized by progressive muscular weakness and respiratory failure, develops in children between the ages of 6 and 12 months and drastically reduces length of life, and has_material_basis_in mutations in the SMN1 or SMN2 genes that are required for the survival of motor neurons. OMIM mapping confirmed by DO. [SN]. |
| Existence Starts During | HP_0011463 |
| Has Symptom | SYMP_0000363, SYMP_0000094 |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_7964 |
| Doid Id | DOID_0050530 |
| Label | Spinal Muscular Atrophies Of Childhood |
- 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 Autosomal Recessive Disease(ID:disease_node_13241) (Disease)