Medical Subject Headings

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/MESH/C567166
http://purl.bioontology.org/ontology/MESH/C567166
Preferred Name

Leukodystrophy, Hypomyelinating, 5
Synonyms
Hypomyelination And Congenital Cataract
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
Hypomyelination And Congenital Cataract
prefLabel
Leukodystrophy, Hypomyelinating, 5
Scope Statement
mutation on hyccin (FAM126A)
type
tui
T047
Has mapping qualifier
HM
D020279
D002386/Q000151
SC
3
TERMUI
T809881
T831192
TH
OMIM (2013)
GHR (2014)
MMR
20131024
notation
C567166
Semantic type UMLS property
cui
C1864663
MeSH Frequency
6
DSC
20121105
Inverse of RB
0
Mapped to
MDA
20121105
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