amyotrophic lateral sclerosis type 12

amyotrophic lateral sclerosis type 12

http://purl.obolibrary.org/obo/MONDO_0013264

Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the OPTN gene. [ MONDO:patterns/disease_series_by_gene ]

Synonyms: amyotrophic lateral sclerosis type 12 amyotrophic lateral sclerosis 12 with or without frontotemporal dementia OPTN amyotrophic lateral sclerosis amyotrophic lateral sclerosis caused by mutation in OPTN amyotrophic lateral sclerosis 12 ALS12

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This is just here as a test because I lose it

Term information

database cross reference

OMIM:613435 (MONDO:equivalentTo)
DOID:0060203 (MONDO:equivalentTo)
UMLS:C3150692 (OMIM:613435)
GARD:15663 (OMIM:613435)

Subsets

gard_rare, rare, nord_rare, clingen

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/4521

exactMatch

http://purl.obolibrary.org/obo/DOID_0060203

http://linkedlifedata.com/resource/umls/id/C3150692

https://omim.org/entry/613435

MONDO:0013264

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0013264

Term relations

Subclass of:

familial amyotrophic lateral sclerosis