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English
pontocerebellar hypoplasia type 2B
human disease
PONTOCEREBELLAR HYPOPLASIA, TYPE 2B
PCH2B
PONTOCEREBELLAR HYPOPLASIA, TYPE 2B; PCH2B
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No label defined
No description defined
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Statements
instance of
rare disease
0 references
class of disease
0 references
subclass of
non-syndromic pontocerebellar hypoplasia
1 reference
stated in
Disease Ontology
retrieved
30 November 2020
Disease Ontology ID
DOID:0060268
pontocerebellar hypoplasia type 2
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
3 July 2018
Mondo ID
MONDO_0012890
genetic association
TSEN2
2 references
stated in
UniProt
UniProt protein ID
Q8NCE0
retrieved
13 August 2019
stated in
tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia
on focus list of Wikimedia project
WikiProject Medicine
0 references
exact match
http://purl.obolibrary.org/obo/DOID_0060268
1 reference
stated in
Disease Ontology
retrieved
30 November 2020
Disease Ontology ID
DOID:0060268
http://identifiers.org/doid/DOID:0060268
1 reference
stated in
Identifiers.org
reference URL
https://registry.identifiers.org/registry/doid
http://www.orpha.net/ORDO/Orphanet_2524
0 references
Identifiers
MeSH descriptor ID
C567325
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
Mondo ID
MONDO_0012890
retrieved
3 July 2018
C567325
1 reference
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0060268
Disease Ontology ID
DOID:0060268
1 reference
stated in
Disease Ontology
retrieved
30 November 2020
Disease Ontology ID
DOID:0060268
Mondo ID
MONDO_0012890
0 references
OMIM ID
612389
1 reference
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0060268
Orphanet ID
2524
1 reference
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0060268
UMLS CUI
C2676466
1 reference
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0060268
UniProt disease ID
DI-02177
0 references
Sitelinks
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Wikinews
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Wikiquote
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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
(0 entries)
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Multilingual sites
(0 entries)
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