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