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English
pontocerebellar hypoplasia type 10
human disease
PONTOCEREBELLAR HYPOPLASIA, TYPE 10; PCH10
CLP1-related pontocerebellar hypoplasia
PCH10
PONTOCEREBELLAR HYPOPLASIA, TYPE 10
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Statements
instance of
developmental defect during embryogenesis
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0014349
rare disease
0 references
class of disease
0 references
subclass of
non-syndromic pontocerebellar hypoplasia
2 references
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
3 July 2018
Mondo ID
MONDO_0014349
stated in
Disease Ontology
retrieved
30 November 2020
Disease Ontology ID
DOID:0060279
genetic association
CLP1
4 references
stated in
UniProt
UniProt protein ID
Q92989
retrieved
13 August 2019
stated in
CLP1 founder mutation links tRNA splicing and maturation to cerebellar development and neurodegeneration
stated in
Human CLP1 mutations alter tRNA biogenesis, affecting both peripheral and central nervous system function
stated in
Open Targets Platform
retrieved
24 August 2023
reference URL
https://platform.opentargets.org/evidence/ENSG00000172409/MONDO_0014349
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_0060279
1 reference
stated in
Disease Ontology
retrieved
30 November 2020
Disease Ontology ID
DOID:0060279
http://identifiers.org/doid/DOID:0060279
1 reference
stated in
Identifiers.org
reference URL
https://registry.identifiers.org/registry/doid
http://www.orpha.net/ORDO/Orphanet_411493
0 references
Identifiers
Disease Ontology ID
DOID:0060279
1 reference
stated in
Disease Ontology
retrieved
30 November 2020
Disease Ontology ID
DOID:0060279
ICD-10-CM
Q04.3
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
3 July 2018
Mondo ID
MONDO_0014349
Mondo ID
MONDO_0014349
0 references
OMIM ID
615803
1 reference
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0060279
Orphanet ID
411493
1 reference
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0060279
UMLS CUI
C4014347
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
3 July 2018
Mondo ID
MONDO_0014349
C5190575
1 reference
based on heuristic
inferred by common Orphanet mappings on source and on Wikidata
stated in
UMLS 2023
retrieved
16 June 2023
UniProt disease ID
DI-04087
0 references
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Wikiversity
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Multilingual sites
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