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English
neuronal ceroid lipofuscinosis 8
human disease
CLN8
CEROID LIPOFUSCINOSIS, NEURONAL, 8; CLN8
CEROID LIPOFUSCINOSIS, NEURONAL, 8
neuronal ceroid lipofuscinosis type 8
Ceroid Lipofuscinosis, Neuronal, type 8
CLN8 disease
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No label defined
No description defined
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Statements
instance of
class of disease
0 references
subclass of
neuronal ceroid lipofuscinosis
1 reference
stated in
Disease Ontology
retrieved
15 May 2019
Disease Ontology ID
DOID:0110723
Jansky–Bielschowsky disease
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
3 July 2018
Mondo ID
MONDO_0010830
juvenile neuronal ceroid lipofuscinosis
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
3 July 2018
Mondo ID
MONDO_0010830
genetic disease
1 reference
stated in
Disease Ontology
retrieved
15 May 2019
Disease Ontology ID
DOID:0110723
genetic association
CLN8
3 references
stated in
UniProt
UniProt protein ID
Q9UBY8
retrieved
13 August 2019
stated in
Open Targets Platform
retrieved
24 August 2023
reference URL
https://platform.opentargets.org/evidence/ENSG00000182372/MONDO_0010830
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/ENSG00000182372/Orphanet_228354
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_0110723
1 reference
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0110723
http://identifiers.org/doid/DOID:0110723
1 reference
stated in
Identifiers.org
reference URL
http://www.ebi.ac.uk/miriam/main/collections/MIR:00000233
http://www.orpha.net/ORDO/Orphanet_168491
0 references
http://www.orpha.net/ORDO/Orphanet_228354
0 references
http://www.orpha.net/ORDO/Orphanet_79264
0 references
Identifiers
Disease Ontology ID
DOID:0110723
1 reference
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0110723
ICD-10-CM
E75.4
2 references
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0110723
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
3 July 2018
Mondo ID
MONDO_0010830
Mondo ID
MONDO_0010830
0 references
OMIM ID
600143
1 reference
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0110723
Orphanet ID
228354
1 reference
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0110723
UMLS CUI
C1838570
mapping relation type
close match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
3 July 2018
Mondo ID
MONDO_0010830
UniProt disease ID
DI-00816
0 references
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