(Q18966162)

English

pontocerebellar hypoplasia type 9

human disease

PONTOCEREBELLAR HYPOPLASIA, TYPE 9
PONTOCEREBELLAR HYPOPLASIA, TYPE 9; PCH9
PCH9

In more languages

Statements

developmental defect during embryogenesis

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

class of disease

0 references

non-syndromic pontocerebellar hypoplasia

2 references

Monarch Disease Ontology release 2018-06-29

3 July 2018

Disease Ontology

29 November 2021

Disease Ontology ID

health specialty

medical genetics

0 references

genetic association

3 references

UniProt protein ID

13 August 2019

AMPD2 regulates GTP synthesis and is mutated in a potentially treatable neurodegenerative brainstem disorder

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000116337/MONDO_0014351

based on heuristic

inferred from an Open Targets association score over 0.7

on focus list of Wikimedia project

WikiProject Medicine

0 references

http://purl.obolibrary.org/obo/DOID_0060278

1 reference

Disease Ontology

29 November 2021

Disease Ontology ID

http://identifiers.org/doid/DOID:0060278

1 reference

Identifiers.org

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

http://www.orpha.net/ORDO/Orphanet_369920

0 references

Identifiers

Disease Ontology ID

1 reference

Disease Ontology

29 November 2021

Disease Ontology ID

2 references

Disease Ontology

28 August 2019

Disease Ontology ID

Monarch Disease Ontology release 2018-06-29

3 July 2018

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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