Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/618404
http://purl.bioontology.org/ontology/OMIM/618404
Preferred Name

LEUKODYSTROPHY, HYPOMYELINATING, 18
Synonyms
HLD18
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
HLD18
prefLabel
LEUKODYSTROPHY, HYPOMYELINATING, 18
Gene Symbol
DEGS1
DES1
MLD
HLD18
Scope Statement
Caused by mutation in the delta(4)-desaturase, sphingolipid 1 gene (DEGS1, 615843.0001) [MOLECULAR BASIS]
Onset in first months or years of life [MISCELLANEOUS]
Early death may occur [MISCELLANEOUS]
Variable severity [MISCELLANEOUS]
Progressive disorder [MISCELLANEOUS]
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU053234
http://purl.bioontology.org/ontology/OMIM/MTHU001739
http://purl.bioontology.org/ontology/OMIM/MTHU010663
http://purl.bioontology.org/ontology/OMIM/MTHU000474
http://purl.bioontology.org/ontology/OMIM/MTHU057831
http://purl.bioontology.org/ontology/OMIM/MTHU023235
http://purl.bioontology.org/ontology/OMIM/MTHU025317
http://purl.bioontology.org/ontology/OMIM/MTHU001239
http://purl.bioontology.org/ontology/OMIM/MTHU064611
http://purl.bioontology.org/ontology/OMIM/MTHU063758
http://purl.bioontology.org/ontology/OMIM/MTHU000136
http://purl.bioontology.org/ontology/OMIM/MTHU024399
http://purl.bioontology.org/ontology/OMIM/MTHU061712
http://purl.bioontology.org/ontology/OMIM/MTHU064612
http://purl.bioontology.org/ontology/OMIM/MTHU000628
http://purl.bioontology.org/ontology/OMIM/MTHU033513
http://purl.bioontology.org/ontology/OMIM/MTHU000283
http://purl.bioontology.org/ontology/OMIM/MTHU020670
http://purl.bioontology.org/ontology/OMIM/MTHU064613
http://purl.bioontology.org/ontology/OMIM/MTHU028612
http://purl.bioontology.org/ontology/OMIM/MTHU000036
http://purl.bioontology.org/ontology/OMIM/MTHU000282
http://purl.bioontology.org/ontology/OMIM/MTHU002543
http://purl.bioontology.org/ontology/OMIM/MTHU059862
http://purl.bioontology.org/ontology/OMIM/MTHU064247
http://purl.bioontology.org/ontology/OMIM/MTHU036384
http://purl.bioontology.org/ontology/OMIM/MTHU000680
http://purl.bioontology.org/ontology/OMIM/MTHU064616
http://purl.bioontology.org/ontology/OMIM/MTHU001721
http://purl.bioontology.org/ontology/OMIM/MTHU000081
http://purl.bioontology.org/ontology/OMIM/MTHU064618
http://purl.bioontology.org/ontology/OMIM/MTHU014230
http://purl.bioontology.org/ontology/OMIM/MTHU064614
http://purl.bioontology.org/ontology/OMIM/MTHU000235
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tui
T047
Gene Locus
1q42.11
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
618404
Semantic type UMLS property
Has inheritance type
cui
C5193078
OMIM Entry Type
3
OMIM MimType Value
pound
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