amyotrophic lateral sclerosis type 15
Go to external page http://purl.obolibrary.org/obo/MONDO_0010459
Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the UBQLN2 gene. [ MONDO:patterns/disease_series_by_gene ]
Synonyms: UBQLN2 amyotrophic lateral sclerosis amyotrophic lateral sclerosis 15, with or without frontotemporal dementia, X-linked dominant amyotrophic lateral sclerosis caused by mutation in UBQLN2 amyotrophic lateral sclerosis 15 ALS15 amyotrophic lateral sclerosis type 15 amyotrophic lateral sclerosis 15, with or without frontotemporal dementia
Term information
- DOID:0060206 (MONDO:equivalentTo)
- OMIM:300857 (MONDO:equivalentTo)
- GARD:15269 (OMIM:300857)
- UMLS:C3275459 (OMIM:300857)
gard_rare, rare, nord_rare, clingen
http://purl.obolibrary.org/obo/DOID_0060206
http://linkedlifedata.com/resource/umls/id/C3275459
https://omim.org/entry/300857