amyotrophic lateral sclerosis type 22

amyotrophic lateral sclerosis type 22

http://purl.obolibrary.org/obo/MONDO_0014531

Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the TUBA4A gene. [ MONDO:patterns/disease_series_by_gene ]

Synonyms: amyotrophic lateral sclerosis type 22 TUBA4A amyotrophic lateral sclerosis amyotrophic lateral sclerosis 22 with or without frontotemporal dementia ALS 22 amyotrophic lateral sclerosis caused by mutation in TUBA4A amyotrophic lateral sclerosis 22

Tree view
Term mappings

Preferred root terms

All terms

This is just here as a test because I lose it

Term information

database cross reference

UMLS:C4015512 (MONDO:ncbi_mim2gene_medline)
GARD:16068 (OMIM:616208)
DOID:0060355 (MONDO:equivalentTo)
OMIM:616208 (MONDO:equivalentTo)

Subsets

gard_rare, rare, nord_rare, clingen

exactMatch

http://purl.obolibrary.org/obo/DOID_0060355

https://omim.org/entry/616208

http://linkedlifedata.com/resource/umls/id/C4015512

has related synonym

ALS22

MONDO:0014531

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0014531

Term relations

Subclass of:

familial amyotrophic lateral sclerosis