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English
neuronal ceroid lipofuscinosis 11
human disease
CLN11
Ceroid Lipofuscinosis, Neuronal, type 11
CEROID LIPOFUSCINOSIS, NEURONAL, 11
neuronal ceroid lipofuscinosis type 11
CLN11 disease
CEROID LIPOFUSCINOSIS, NEURONAL, 11; CLN11
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Statements
instance of
rare disease
0 references
class of disease
0 references
subclass of
neuronal ceroid lipofuscinosis
1 reference
stated in
Disease Ontology
retrieved
29 November 2021
Disease Ontology ID
DOID:0110732
adult neuronal ceroid lipofuscinosis
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
3 July 2018
Mondo ID
MONDO_0013866
genetic disease
1 reference
stated in
Disease Ontology
retrieved
30 November 2020
Disease Ontology ID
DOID:0110732
genetic association
GRN
4 references
stated in
UniProt
UniProt protein ID
P28799
retrieved
13 August 2019
stated in
Accelerated lipofuscinosis and ubiquitination in granulin knockout mice suggest a role for progranulin in successful aging
stated in
Open Targets Platform
retrieved
24 August 2023
reference URL
https://platform.opentargets.org/evidence/ENSG00000030582/MONDO_0013866
based on heuristic
inferred from an Open Targets association score over 0.7
stated in
Open Targets Platform
retrieved
24 August 2023
reference URL
https://platform.opentargets.org/evidence/ENSG00000030582/Orphanet_314629
based on heuristic
inferred from an Open Targets association score over 0.7
on focus list of Wikimedia project
WikiProject Medicine
0 references
NCI Thesaurus ID
C188214
0 references
exact match
http://purl.obolibrary.org/obo/DOID_0110732
1 reference
stated in
Disease Ontology
retrieved
29 November 2021
Disease Ontology ID
DOID:0110732
http://identifiers.org/doid/DOID:0110732
1 reference
stated in
Identifiers.org
reference URL
https://registry.identifiers.org/registry/doid
http://www.orpha.net/ORDO/Orphanet_314629
0 references
http://www.orpha.net/ORDO/Orphanet_79262
0 references
Identifiers
Disease Ontology ID
DOID:0110732
1 reference
stated in
Disease Ontology
retrieved
29 November 2021
Disease Ontology ID
DOID:0110732
ICD-10-CM
E75.4
2 references
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0110732
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
3 July 2018
Mondo ID
MONDO_0013866
Mondo ID
MONDO_0013866
0 references
OMIM ID
614706
1 reference
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0110732
Orphanet ID
314629
1 reference
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0110732
UMLS CUI
C3539123
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
3 July 2018
Mondo ID
MONDO_0013866
UniProt disease ID
DI-03493
0 references
Sitelinks
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(0 entries)
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Wikinews
(0 entries)
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Wikiquote
(0 entries)
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Wikisource
(0 entries)
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Wikiversity
(0 entries)
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Wikivoyage
(0 entries)
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Wiktionary
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Multilingual sites
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