Human Disease Ontology

Last uploaded: March 29, 2024
Preferred Name

amyotrophic lateral sclerosis type 16

Synonyms

ALS16

Definitions

An amyotrophic lateral sclerosis that has_material_basis_in mutation in the SIGMAR1 gene (SETX) on chromosome 9.

ID

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

created_by

emitraka

creation_date

2014-09-16T15:17:01Z

database_cross_reference

OMIM:614373

definition

An amyotrophic lateral sclerosis that has_material_basis_in mutation in the SIGMAR1 gene (SETX) on chromosome 9.

has exact synonym

ALS16

amyotrophic lateral sclerosis 16

has_obo_namespace

disease_ontology

has_related_synonym

amyotrophic lateral sclerosis 16, juvenile

id

DOID:0060207

label

amyotrophic lateral sclerosis type 16

notation

DOID:0060207

prefLabel

amyotrophic lateral sclerosis type 16

subClassOf

http://purl.obolibrary.org/obo/DOID_332

Delete Subject Author Type Created
No notes to display