Mondo Disease Ontology

Last uploaded: June 6, 2019
Preferred Name

amyotrophic lateral sclerosis type 16

Synonyms

ALS16

amyotrophic lateral sclerosis 16, juvenile

SIGMAR1 amyotrophic lateral sclerosis

amyotrophic lateral sclerosis 16, juvenile; ALS16

amyotrophic lateral sclerosis caused by mutation in SIGMAR1

amyotrophic lateral sclerosis 16

Definitions

Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the SIGMAR1 gene.

ID

http://purl.obolibrary.org/obo/MONDO_0013715

database_cross_reference

OMIM:614373

DOID:0060207

UMLS:C3280587

definition

Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the SIGMAR1 gene.

exactMatch

http://identifiers.org/omim/614373

http://linkedlifedata.com/resource/umls/id/C3280587

http://purl.obolibrary.org/obo/DOID_0060207

has_exact_synonym

ALS16

SIGMAR1 amyotrophic lateral sclerosis

amyotrophic lateral sclerosis caused by mutation in SIGMAR1

amyotrophic lateral sclerosis 16

has_related_synonym

amyotrophic lateral sclerosis 16, juvenile

amyotrophic lateral sclerosis 16, juvenile; ALS16

id

MONDO:0013715

label

amyotrophic lateral sclerosis type 16

notation

MONDO:0013715

prefLabel

amyotrophic lateral sclerosis type 16

treeView

http://purl.obolibrary.org/obo/MONDO_0017593

subClassOf

http://purl.obolibrary.org/obo/MONDO_0017593

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http://purl.obolibrary.org/obo/DOID_0060207 DOID LOOM
http://purl.obolibrary.org/obo/DOID_0060207 NIFSTD LOOM