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| General Information | |||
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| Term | intermediate spinal muscular atrophy | ID (Ontology) | DOID:0050530 (Human Disease) |
| 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. | ||
| Also Known As | "MUSCULAR ATROPHY, SPINAL, INFANTILE CHRONIC FORM" ; "MUSCULAR ATROPHY, SPINAL, INTERMEDIATE TYPE" ; "SMA II" (for all, see Synonyms field below) | ||
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| DO.org | |||
| Annotations | |||
| Records annotated with this term OR any of its CHILD TERMS | |||
Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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autosomal genetic disease |__autosomal recessive disease________ spinal muscular atrophy | |__childhood spinal muscular atrophy__| intermediate spinal muscular atrophy 5 rec. |
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Relationships
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| Is a |
autosomal recessive disease childhood spinal muscular atrophy |
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Synonyms & Secondary IDs
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External Crossreferences & Linkouts
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MESH:D014897 MIM:253550 NCI:C156310 SNOMEDCT_US_2023_03_01:128212001 UMLS_CUI:C0393538 |
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