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| Term | MASA syndrome | ID (Ontology) | DOID:0060246 (Human Disease) |
| Definition | A hereditary spastic paraplegia that is characterized by hydrocephalus, spasticity of the lower limbs, adducted thumbs, aphasia, seizures, agenesis of the corpus callosum and intellectual disability in the mild to moderate range. | ||
| Also Known As | "CRASH syndrome" ; "Gareis-Mason syndrome" ; "hereditary spastic paraplegia 1" (for all, see Synonyms field below) | ||
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| 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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X-linked monogenic disease |__X-linked recessive disease_____ central nervous system disease | |__brain disease__________________| paraplegia | |__hereditary spastic paraplegia__| MASA syndrome 6 rec. |
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| Is a |
X-linked recessive disease hereditary spastic paraplegia brain disease |
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Synonyms & Secondary IDs
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External Crossreferences & Linkouts
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GARD:6986 MESH:C536029 MIM:303350 NCI:C129930 ORDO:2466 SNOMEDCT_US_2023_03_01:716996008 UMLS_CUI:C0795953 |
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