(Q55345961)

English

pontocerebellar hypoplasia type 1

No description defined

Norman disease
PCH1

In more languages

Statements

class of disease

0 references

non-syndromic pontocerebellar hypoplasia

1 reference

Monarch Disease Ontology release 2018-06-29

3 July 2018

genetic association

1 reference

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000100749/MONDO_0016396

based on heuristic

inferred from an Open Targets association score over 0.7

1 reference

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000107371/MONDO_0016396

based on heuristic

inferred from an Open Targets association score over 0.7

http://www.orpha.net/ORDO/Orphanet_2254

0 references

Identifiers

MeSH descriptor ID

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

3 July 2018

GARD rare disease ID

0 references

1 reference

Monarch Disease Ontology release 2018-06-29

3 July 2018

0 references

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

3 July 2018

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

3 July 2018

1 reference

based on heuristic

inferred by common Orphanet mappings on source and on Wikidata

16 June 2023

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

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