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(Q18553720)
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English
amyotrophic lateral sclerosis type 12
amyotrophic lateral sclerosis that has material basis in mutation in the OPTN gene on chromosome 10
ALS12
amyotrophic lateral sclerosis 12
Amyotrophic Lateral Sclerosis type 12
AMYOTROPHIC LATERAL SCLEROSIS 12; ALS12
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Statements
instance of
class of disease
0 references
subclass of
amyotrophic lateral sclerosis
1 reference
stated in
Disease Ontology
retrieved
15 May 2019
Disease Ontology ID
DOID:0060203
familial amyotrophic lateral sclerosis
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
3 July 2018
Mondo ID
MONDO_0013264
genetic association
OPTN
1 reference
stated in
UniProt
UniProt protein ID
Q96CV9
retrieved
13 August 2019
on focus list of Wikimedia project
WikiProject Medicine
0 references
exact match
http://purl.obolibrary.org/obo/DOID_0060203
1 reference
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0060203
http://identifiers.org/doid/DOID:0060203
1 reference
stated in
Identifiers.org
reference URL
http://www.ebi.ac.uk/miriam/main/collections/MIR:00000233
http://www.orpha.net/ORDO/Orphanet_803
0 references
Identifiers
Disease Ontology ID
DOID:0060203
1 reference
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0060203
Mondo ID
MONDO_0013264
0 references
OMIM ID
613435
1 reference
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0060203
UMLS CUI
C3150692
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
3 July 2018
Mondo ID
MONDO_0013264
UniProt disease ID
DI-02705
0 references
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