hypomyelinating leukodystrophy 2

Human disease
rdfs:label
"hypomyelinating leukodystrophy 2"@en
skos:altLabel "HLD2"@en
"PMLD1"@en
"Pelizaeus-Merzbacher-like disease 1"@en
"Pelizaeus-Merzbacher-like disease due to GJC2 mutation"@en
schema:description
"Human disease"@en
schema:dateModified "2026-10-23T23:55:33+00:00"^^xsd:dateTime
schema:version 2560160334
wikibase:identifiers 8
wikibase:sitelinks 0
wikibase:statements 18
p:P11430 wd:statement/Q28065592-49d0bd74-42db-a2e3-6a23-96a55d10c9a4
p:P14914 wd:statement/Q28065592-9133A51B-B727-4C0D-B83A-4F9F90653FF5
p:P1550 wd:statement/Q28065592-ED4A9276-F564-4659-99C7-D790A17E94DC
p:P2293 wd:statement/Q28065592-717E809A-E23F-4031-AF3E-27A71180606C
p:P279 wd:statement/Q28065592-1221B7B0-04A5-44D4-9FCC-ECF183FE1953
wd:statement/Q28065592-DABAB5BC-E6D6-4822-B6A9-20F6332AF806
p:P2841 wd:statement/Q28065592-5AF9A41A-726C-4492-AD36-7DCBC9E2CA24
wd:statement/Q28065592-8130E28C-3601-4C9A-AAF6-9A4E5CAEAF5E
p:P2888 wd:statement/Q28065592-0C5A8647-F24D-45F1-BE35-A9342CB3EEB8
wd:statement/Q28065592-E2D19133-66C1-4018-9990-3DB72C974DAC
p:P2892 wd:statement/Q28065592-10049F0E-0D24-465A-9051-1F4FA4CEF7DC
p:P31 wd:statement/Q28065592-55D0356D-853A-4518-9423-6F606235B441
wd:statement/Q28065592-F4F54131-D089-4591-938A-A370BE0D37E1
p:P4229 wd:statement/Q28065592-D0D701D7-2DA2-410D-9D52-AAD3195DB5CA
p:P492 wd:statement/Q28065592-89E47C6F-A14A-4A4C-BEA6-4340859A61C9
p:P5008 wd:statement/Q28065592-909AE291-FDC3-434F-8115-EE067769CFC9
p:P5270 wd:statement/Q28065592-96767DB3-CE0F-4F95-B9B4-68C077CD0156
p:P699 wd:statement/Q28065592-3793B5B9-CA33-403D-9F7B-83458CAF2896
p:direct-normalized/P5270 <http://purl.obolibrary.org/obo/MONDO_0012125>
p:direct-normalized/P699 <http://purl.obolibrary.org/obo/DOID_DOID:0060787>
wdt:P11430 "DI-00649"
wdt:P14914 "D280282"
wdt:P1550 "280282"
wdt:P2293 GJC2
wdt:P279 autosomal recessive disease
hypomyelinating leukodystrophy
wdt:P2841 neonatal onset
infantile onset
wdt:P2888 <http://identifiers.org/doid/DOID:0060787>
<http://purl.obolibrary.org/obo/DOID_0060787>
wdt:P2892 "C1837355"
wdt:P31 type of disease
rare disease
wdt:P4229 "E75.2"
wdt:P492 "608804"
wdt:P5008 WikiProject Medicine
wdt:P5270 "MONDO_0012125"
wdt:P699 "DOID:0060787"
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