Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
Preferred Name

LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER

Synonyms

OVARIOLEUKODYSTROPHY

ID

http://purl.bioontology.org/ontology/OMIM/603896

altLabel

OVARIOLEUKODYSTROPHY

VANISHING WHITE MATTER LEUKODYSTROPHY WITH OVARIAN FAILURE

VANISHING WHITE MATTER LEUKODYSTROPHY

CREE LEUKOENCEPHALOPATHY

CLE

CACH

VWM

CHILDHOOD ATAXIA WITH CENTRAL NERVOUS SYSTEM HYPOMYELINIZATION

cui

C1847967

C1858991

Gene Locus

2p23.3

Gene Symbol

EIF2B4

Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU037936

http://purl.bioontology.org/ontology/OMIM/MTHU036360

http://purl.bioontology.org/ontology/OMIM/MTHU004977

http://purl.bioontology.org/ontology/OMIM/MTHU000283

http://purl.bioontology.org/ontology/OMIM/MTHU020346

http://purl.bioontology.org/ontology/OMIM/MTHU036678

http://purl.bioontology.org/ontology/OMIM/MTHU038626

http://purl.bioontology.org/ontology/OMIM/MTHU004914

http://purl.bioontology.org/ontology/OMIM/MTHU004981

http://purl.bioontology.org/ontology/OMIM/MTHU004987

http://purl.bioontology.org/ontology/OMIM/MTHU004975

http://purl.bioontology.org/ontology/OMIM/MTHU002478

http://purl.bioontology.org/ontology/OMIM/MTHU004979

http://purl.bioontology.org/ontology/OMIM/MTHU004973

http://purl.bioontology.org/ontology/OMIM/MTHU000539

http://purl.bioontology.org/ontology/OMIM/MTHU004999

http://purl.bioontology.org/ontology/OMIM/MTHU004997

http://purl.bioontology.org/ontology/OMIM/MTHU004985

http://purl.bioontology.org/ontology/OMIM/MTHU004983

http://purl.bioontology.org/ontology/OMIM/MTHU004989

http://purl.bioontology.org/ontology/OMIM/MTHU005006

http://purl.bioontology.org/ontology/OMIM/MTHU004991

http://purl.bioontology.org/ontology/OMIM/MTHU029363

http://purl.bioontology.org/ontology/OMIM/MTHU029361

http://purl.bioontology.org/ontology/OMIM/MTHU025364

http://purl.bioontology.org/ontology/OMIM/MTHU029365

http://purl.bioontology.org/ontology/OMIM/MTHU004025

http://purl.bioontology.org/ontology/OMIM/MTHU004995

http://purl.bioontology.org/ontology/OMIM/MTHU004993

http://purl.bioontology.org/ontology/OMIM/MTHU036650

http://purl.bioontology.org/ontology/OMIM/MTHU001203

http://purl.bioontology.org/ontology/OMIM/MTHU004978

http://purl.bioontology.org/ontology/OMIM/MTHU042046

http://purl.bioontology.org/ontology/OMIM/MTHU000300

http://purl.bioontology.org/ontology/OMIM/MTHU000242

http://purl.bioontology.org/ontology/OMIM/MTHU004988

http://purl.bioontology.org/ontology/OMIM/MTHU025365

http://purl.bioontology.org/ontology/OMIM/MTHU004986

http://purl.bioontology.org/ontology/OMIM/MTHU004976

http://purl.bioontology.org/ontology/OMIM/MTHU004984

http://purl.bioontology.org/ontology/OMIM/MTHU004982

http://purl.bioontology.org/ontology/OMIM/MTHU004980

http://purl.bioontology.org/ontology/OMIM/MTHU004994

http://purl.bioontology.org/ontology/OMIM/MTHU004992

http://purl.bioontology.org/ontology/OMIM/MTHU004998

http://purl.bioontology.org/ontology/OMIM/MTHU004990

http://purl.bioontology.org/ontology/OMIM/MTHU005007

http://purl.bioontology.org/ontology/OMIM/MTHU036852

http://purl.bioontology.org/ontology/OMIM/MTHU029364

http://purl.bioontology.org/ontology/OMIM/MTHU029362

http://purl.bioontology.org/ontology/OMIM/MTHU005005

http://purl.bioontology.org/ontology/OMIM/MTHU000197

MIMTYPEMEANING

Phenotype description, molecular basis known.

notation

603896

OMIM Entry Type

3

OMIM MimType Value

pound

prefLabel

LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER

tui

T047

Delete Subject Author Type Created
No notes to display
Create New Mapping

Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_0060868 Human Disease Ontology 123 LOOM
http://purl.bioontology.org/ontology/MESH/D056784 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/C565836 Medical Subject Headings CUI
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C122664 National Cancer Institute Thesaurus LOOM