(Q28065592)

English

hypomyelinating leukodystrophy 2

Human disease

HLD2
PMLD1
Pelizaeus-Merzbacher-like disease 1
Pelizaeus-Merzbacher-like disease due to GJC2 mutation

In more languages

Statements

0 references

class of disease

0 references

hypomyelinating leukodystrophy

1 reference

Disease Ontology

15 May 2019

Disease Ontology ID

autosomal recessive disease

1 reference

Disease Ontology

15 May 2019

Disease Ontology ID

genetic association

2 references

Mutations in the gene encoding gap junction protein alpha 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like disease

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000198835/Orphanet_280282

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_0060787

1 reference

Disease Ontology

28 August 2019

Disease Ontology ID

http://identifiers.org/doid/DOID:0060787

1 reference

Identifiers.org

http://www.ebi.ac.uk/miriam/main/collections/MIR:00000233

Identifiers

Disease Ontology ID

1 reference

Disease Ontology

28 August 2019

Disease Ontology ID

1 reference

Disease Ontology

28 August 2019

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

1 reference

based on heuristic

inferred by common Orphanet mappings on source and on Wikidata

16 June 2023

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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