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(Q18966154)
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English
pontocerebellar hypoplasia type 3
Human disease
CLAM
PCH3
PCH without dyskinesia
PONTOCEREBELLAR HYPOPLASIA, TYPE 3; PCH3
Cerebellar Atrophy With Progressive Microcephaly
PCH with optic atrophy
PONTOCEREBELLAR HYPOPLASIA, TYPE 3
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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_0011948
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_0011948
stated in
Disease Ontology
retrieved
29 November 2020
Disease Ontology ID
DOID:0060272
genetic association
PCLO
2 references
stated in
UniProt
UniProt protein ID
Q9Y6V0
retrieved
13 August 2019
stated in
Loss of PCLO function underlies pontocerebellar hypoplasia type III
on focus list of Wikimedia project
WikiProject Medicine
0 references
exact match
http://purl.obolibrary.org/obo/DOID_0060272
1 reference
stated in
Disease Ontology
retrieved
29 November 2020
Disease Ontology ID
DOID:0060272
http://identifiers.org/doid/DOID:0060272
1 reference
stated in
Identifiers.org
reference URL
https://registry.identifiers.org/registry/doid
http://www.orpha.net/ORDO/Orphanet_97249
0 references
Identifiers
MeSH descriptor ID
C548072
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
Mondo ID
MONDO_0011948
retrieved
3 July 2018
C548072
1 reference
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0060272
Disease Ontology ID
DOID:0060272
1 reference
stated in
Disease Ontology
retrieved
29 November 2020
Disease Ontology ID
DOID:0060272
GARD rare disease ID
10708
2 references
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
3 July 2018
Mondo ID
MONDO_0011948
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0060272
ICD-10-CM
Q04.3
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
3 July 2018
Mondo ID
MONDO_0011948
Mondo ID
MONDO_0011948
0 references
OMIM ID
608027
1 reference
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0060272
Orphanet ID
97249
1 reference
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0060272
UMLS CUI
C1842687
1 reference
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0060272
UniProt disease ID
DI-04470
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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