amyotrophic lateral sclerosis type 20
Go to external page http://purl.obolibrary.org/obo/MONDO_0014181
Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the HNRNPA1 gene. [ MONDO:patterns/disease_series_by_gene ]
Synonyms: amyotrophic lateral sclerosis 20 ALS20 amyotrophic lateral sclerosis caused by mutation in HNRNPA1 amyotrophic lateral sclerosis type 20 HNRNPA1 amyotrophic lateral sclerosis
Term information
- UMLS:C3715156 (MONDO:equivalentTo)
- MEDGEN:811608 (MONDO:equivalentTo)
- GARD:15964 (MONDO:GARD)
- DOID:0060211 (MONDO:equivalentTo)
- OMIM:615426 (MONDO:equivalentTo)
gard_rare, rare, nord_rare
https://omim.org/entry/615426
http://purl.obolibrary.org/obo/DOID_0060211
http://linkedlifedata.com/resource/umls/id/C3715156
http://identifiers.org/medgen/811608