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Metadata
ID DOID:0111227
Name frontotemporal dementia and/or amyotrophic lateral sclerosis 7
Definition A frontotemporal dementia and/or amyotrophic lateral sclerosis that has_material_basis_in heterozygous mutation in CHMP2B on 3p11.2.
https://medlineplus.gov/genetics/condition/chmp2b-related-frontotemporal-dementia/#resources, https://www.ncbi.nlm.nih.gov/books/NBK1199/, https://www.ncbi.nlm.nih.gov/pubmed/16041373
Xrefs

MESH:C579991

MIM:600795

Alternateids

DOID:0060208

Synonyms

ALS17 [EXACT]

AMYOTROPHIC LATERAL SCLEROSIS 17 (FORMERLY) [EXACT]

AMYOTROPHIC LATERAL SCLEROSIS [EXACT]

amyotrophic lateral sclerosis type 17 [EXACT]

CHMP2B-RELATED [EXACT]

CHMP2B-related frontotemporal dementia [EXACT]

chromosome 3-linked frontotemporal dementia [EXACT]

FRONTOTEMPORAL DEMENTIA [EXACT]

FTD3 [EXACT]

FTDALS7 [EXACT]

Parent Relationships

is_a frontotemporal dementia

is_a amyotrophic lateral sclerosis

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