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Disease Ontology Browser
MASA syndrome (DOID:0060246)
Synonyms: CRASH syndrome; Gareis-Mason syndrome; hereditary spastic paraplegia 1; L1 syndrome; SPG1; X-linked complicated hereditary spastic paraplegia type 1; X-linked corpus callosum agenesis; X-linked spastic paraplegia 1
Alt IDs: OMIM:303350, ICD10CM:G11.4, MESH:C536029, ORDO:2466, UMLS_CUI:C0795953
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.

Disease References using Mouse Models (1)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
05/23/2017
MGI 6.09
The Jackson Laboratory