(Q18966146)

English

pontocerebellar hypoplasia type 1B

human disease

PCH1B
PONTOCEREBELLAR HYPOPLASIA, TYPE 1B
PONTOCEREBELLAR HYPOPLASIA, TYPE 1B; PCH1B

In more languages

Statements

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class of disease

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non-syndromic pontocerebellar hypoplasia

1 reference

Disease Ontology

30 November 2020

Disease Ontology ID

pontocerebellar hypoplasia type 1

1 reference

Monarch Disease Ontology release 2018-06-29

3 July 2018

genetic association

2 references

UniProt protein ID

13 August 2019

Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration

on focus list of Wikimedia project

WikiProject Medicine

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NCI Thesaurus ID

C190872

0 references

http://purl.obolibrary.org/obo/DOID_0060266

1 reference

Disease Ontology

30 November 2020

Disease Ontology ID

http://identifiers.org/doid/DOID:0060266

1 reference

Identifiers.org

https://registry.identifiers.org/registry/doid

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

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Identifiers

Disease Ontology ID

1 reference

Disease Ontology

30 November 2020

Disease Ontology ID

0 references

1 reference

Disease Ontology

28 August 2019

Disease Ontology ID

1 reference

Disease Ontology

28 August 2019

Disease Ontology ID

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

3 July 2018

UniProt disease ID

0 references

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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