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(Q18966121)
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English
mast syndrome
hereditary spastic paraplegia associated with dementia
autosomal recessive spastic paraplegia 21
autosomal recessive spastic paraplegia type 21
SPG21
hereditary spastic paraplegia 21
Mast syndrome
Spastic Paraplegia 21, Autosomal Recessive
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Statements
instance of
rare disease
0 references
class of disease
0 references
subclass of
hereditary spastic paraplegia
1 reference
stated in
Disease Ontology
retrieved
30 November 2020
Disease Ontology ID
DOID:0060245
pure or complex autosomal recessive spastic paraplegia
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
3 July 2018
Mondo ID
MONDO_0009568
health specialty
neurology
0 references
genetic association
SPG21
3 references
stated in
UniProt
UniProt protein ID
Q9NZD8
retrieved
13 August 2019
stated in
Maspardin is mutated in mast syndrome, a complicated form of hereditary spastic paraplegia associated with dementia
stated in
Open Targets Platform
retrieved
24 August 2023
reference URL
https://platform.opentargets.org/evidence/ENSG00000090487/MONDO_0009568
based on heuristic
inferred from an Open Targets association score over 0.7
on focus list of Wikimedia project
WikiProject Medicine
0 references
exact match
http://purl.obolibrary.org/obo/DOID_0060245
1 reference
stated in
Disease Ontology
retrieved
30 November 2020
Disease Ontology ID
DOID:0060245
http://identifiers.org/doid/DOID:0060245
1 reference
stated in
Identifiers.org
reference URL
https://registry.identifiers.org/registry/doid
http://www.orpha.net/ORDO/Orphanet_101001
0 references
Identifiers
MeSH descriptor ID
C565409
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
3 July 2018
Mondo ID
MONDO_0009568
C565409
1 reference
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0060245
Disease Ontology ID
DOID:0060245
1 reference
stated in
Disease Ontology
retrieved
30 November 2020
Disease Ontology ID
DOID:0060245
ICD-10-CM
G11.4
2 references
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0060245
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
3 July 2018
Mondo ID
MONDO_0009568
Mondo ID
MONDO_0009568
0 references
OMIM ID
248900
1 reference
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0060245
Orphanet ID
101001
1 reference
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0060245
UMLS CUI
C1855346
mapping relation type
close match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
3 July 2018
Mondo ID
MONDO_0009568
UniProt disease ID
DI-01048
0 references
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Wikiversity
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Wikivoyage
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Wiktionary
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Multilingual sites
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