(Q1698867)

English

non-syndromic pontocerebellar hypoplasia

Human disease

PCH
Pontoneocerebellar atrophy
Pontoneocerebllar hypoplasia
pontocerebellar hypoplasia
isolated pontocerebellar hypoplasia
nonsyndromic pontocerebellar hypoplasia

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No description defined

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Statements

instance of

developmental defect during embryogenesis

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

1 reference

30 November 2020

nervous system heredodegenerative disease

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

3 July 2018

Mondo ID

MONDO_0020135

posterior fossa malformation

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

28 July 2018

Mondo ID

MONDO_0020135

rare genetic developmental defect during embryogenesis

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

28 July 2018

Mondo ID

MONDO_0020135

on focus list of Wikimedia project

WikiProject Medicine

0 references

exact match

http://purl.obolibrary.org/obo/DOID_0060264

1 reference

30 November 2020

http://identifiers.org/doid/DOID:0060264

1 reference

stated in

Identifiers.org

reference URL

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

http://www.orpha.net/ORDO/Orphanet_98523

0 references

Commons category

Pontocerebellar hypoplasia

0 references

Identifiers

MeSH descriptor ID

C580383

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

3 July 2018

0 references

0 references

1 reference

30 November 2020

2 references

Monarch Disease Ontology release 2018-06-29

3 July 2018

28 August 2019

0 references

Genetics Home Reference Conditions ID

pontocerebellar-hypoplasia

0 references

ICD-10-CM

Q04.3

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

3 July 2018

Mondo ID

MONDO_0020135

ICD-11 ID (Foundation)

1565266279

0 references

ICD-11 ID (MMS)

LD20.01

subject named as

Pontocerebellar hypoplasia

0 references

Microsoft Academic ID

0 references

0 references

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

3 July 2018

1 reference

28 August 2019

1 reference

inferred by common Orphanet mappings on source and on Wikidata

16 June 2023

Pontocerebellar hypoplasia

0 references

Sitelinks

Wikipedia(3 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(1 entry)

commonswiki Category:Pontocerebellar hypoplasia