(Q18966144)

English

pontocerebellar hypoplasia type 1A

human disease

Pontocerebellar Hypoplasia With Infantile Spinal Muscular Atrophy
Pch1
PONTOCEREBELLAR HYPOPLASIA, TYPE 1A
PONTOCEREBELLAR HYPOPLASIA, TYPE 1A; PCH1A
Pontocerebellar Hypoplasia With Anterior Horn Cell Disease
PCH1A

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Statements

0 references

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

autosomal recessive disease

1 reference

Disease Ontology

29 November 2021

Disease Ontology ID

genetic association

2 references

UniProt protein ID

13 August 2019

Spinal muscular atrophy with pontocerebellar hypoplasia is caused by a mutation in the VRK1 gene

on focus list of Wikimedia project

WikiProject Medicine

0 references

http://purl.obolibrary.org/obo/DOID_0060265

1 reference

Disease Ontology

29 November 2021

Disease Ontology ID

http://identifiers.org/doid/DOID:0060265

1 reference

Identifiers.org

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

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

0 references

Identifiers

Disease Ontology ID

1 reference

Disease Ontology

29 November 2021

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

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Wikinews(0 entries)

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Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

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