amyotrophic lateral sclerosis type 10
Go to external page http://purl.obolibrary.org/obo/MONDO_0012790
Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the TARDBP gene. [ MONDO:patterns/disease_series_by_gene ]
Synonyms: ALS10 amyotrophic lateral sclerosis type 10 TARDBP amyotrophic lateral sclerosis frontotemporal lobar degeneration, TARDBP-related amyotrophic lateral sclerosis 10, with or without FTD amyotrophic lateral sclerosis 10, with or without frontotemporal dementia amyotrophic lateral sclerosis caused by mutation in TARDBP amyotrophic lateral sclerosis 10 TARDBP-related frontotemporal lobar degeneration with Tdp43 inclusions
Term information
- GARD:15540 (OMIM:612069)
- OMIM:612069 (MONDO:equivalentTo)
- UMLS:C2677565 (OMIM:612069)
- MESH:C567429 (MONDO:equivalentTo)
- DOID:0060201 (MONDO:equivalentTo)
gard_rare, rare, nord_rare, clingen
http://purl.obolibrary.org/obo/DOID_0060201
http://identifiers.org/mesh/C567429
https://omim.org/entry/612069
http://linkedlifedata.com/resource/umls/id/C2677565
amyotrophic lateral sclerosis 10 with or without frontotemporal dementia
Ftld-TDP, Tardbp-related
frontotemporal lobar Degeneration with Tdp43 inclusions, Tardbp-related
frontotemporal dementia with Tdp43 inclusions, Tardbp-related
https://search.clinicalgenome.org/kb/conditions/MONDO:0012790
https://rarediseases.info.nih.gov/diseases/10497/amyotrophic-lateral-sclerosis-type-10