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DO Term : frontotemporal dementia and/or amyotrophic lateral sclerosis 7 [DOID:0111227] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A frontotemporal dementia and/or amyotrophic lateral sclerosis that has_material_basis_in heterozygous mutation in CHMP2B on 3p11.2.
  • synonyms:
  • MESH:C579991,
  • 600795,
  • FTD3,
  • FRONTOTEMPORAL DEMENTIA,
  • amyotrophic lateral sclerosis type 17,
  • OMIM:600795,
  • DOID:0060208,
  • ALS17,
  • chromosome 3-linked frontotemporal dementia,
  • AMYOTROPHIC LATERAL SCLEROSIS 17 (FORMERLY),
  • CHMP2B-related frontotemporal dementia,
  • CHMP2B-RELATED,
  • AMYOTROPHIC LATERAL SCLEROSIS,
  • FTDALS7
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