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DO Term : MASA syndrome [DOID:0060246] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

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.

synonyms:
Gareis-Mason syndrome,
MESH:C536029,
GARD:6986,
X-linked complicated hereditary spastic paraplegia type 1,
ORDO:2466,
L1 syndrome,
X-linked spastic paraplegia 1,
303350,
UMLS_CUI:C0795953,
SPG1,
OMIM:303350,
CRASH syndrome,
SNOMEDCT_US_2023_03_01:716996008,
hereditary spastic paraplegia 1,
X-linked corpus callosum agenesis,
NCI:C129930

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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