(Q54963650)

English

encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy; PEBEL

human disease

Encephalopathy, Progressive, Early-Onset, with Brain Edema and/or Leukoencephalopathy
PEBEL

In more languages

Statements

0 references

1 reference

Homozygous mutation in the APOA1BP is associated with a lethal infantile leukoencephalopathy.

genetic disease

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

genetic association

2 references

Homozygous mutation in the APOA1BP is associated with a lethal infantile leukoencephalopathy.

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000163382/EFO_0009158

based on heuristic

inferred from an Open Targets association score over 0.7

1 reference

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000213995/EFO_0009158

based on heuristic

inferred from an Open Targets association score over 0.7

Identifiers

0 references

Experimental Factor Ontology ID

1 reference

based on heuristic

inferred by common MONDO mappings on source and on Wikidata

0 references

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

Sitelinks

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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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