| Metadata | |
|---|---|
| ID | DOID:0050530 |
| Name | intermediate spinal muscular atrophy |
| Definition | 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. https://rarediseases.info.nih.gov/diseases/4945/spinal-muscular-atrophy-type-2 |
| Xrefs |
SNOMEDCT_US_2023_03_01:128212001 |
| Subsets |
DO_FlyBase_slim NCIthesaurus |
| Synonyms |
MUSCULAR ATROPHY, SPINAL, INFANTILE CHRONIC FORM [EXACT] MUSCULAR ATROPHY, SPINAL, INTERMEDIATE TYPE [EXACT] SMA II [EXACT] SMA2 [EXACT] spinal muscular atrophy 2 [EXACT] spinal muscular atrophy type II [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has symptom some progressive weakness existence starts during some Childhood onset has material basis in some autosomal recessive inheritance has symptom some muscle weakness |