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Preferred Name

leukoencephalopathy with vanishing white matter 5
Synonyms

Cree leukoencephalopathy
Definitions

A leukoencephalopathy with vanishing white matter that has_material_basis_in homozygous or compound heterozygous mutation in the EIF2B5 gene on chromosome 3q27. 'Cree leukoencephalopathy' synonym included in this subtype because of genetic link. The severity of this disease remains variable [JAB].
ID

http://purl.obolibrary.org/obo/DOID_0070367
comment

'Cree leukoencephalopathy' synonym included in this subtype because of genetic link. The severity of this disease remains variable [JAB].
alternative label

Cree leukoencephalopathy
database_cross_reference

OMIM:620315

ORDO:99854
definition

A leukoencephalopathy with vanishing white matter that has_material_basis_in homozygous or compound heterozygous mutation in the EIF2B5 gene on chromosome 3q27.

'Cree leukoencephalopathy' synonym included in this subtype because of genetic link. The severity of this disease remains variable [JAB].
has close match

OMIM:620315

ORDO:99854
has exact match

OMIM:620315

ORDO:99854
has exact synonym

Cree leukoencephalopathy
has_obo_namespace

disease_ontology
id

DOID:0070367
in_subset

http://purl.obolibrary.org/obo/doid#DO_rare_slim
label

leukoencephalopathy with vanishing white matter 5
notation

DOID:0070367
note

A leukoencephalopathy with vanishing white matter that has_material_basis_in homozygous or compound heterozygous mutation in the EIF2B5 gene on chromosome 3q27.

'Cree leukoencephalopathy' synonym included in this subtype because of genetic link. The severity of this disease remains variable [JAB].
preferred label

leukoencephalopathy with vanishing white matter 5
prefLabel

leukoencephalopathy with vanishing white matter 5
subClassOf

http://purl.obolibrary.org/obo/DOID_0060868
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