Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024
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Preferred Name

PELIZAEUS-MERZBACHER DISEASE
Synonyms

HLD1
ID

http://purl.bioontology.org/ontology/OMIM/312080
altLabel

HLD1

PMD

LEUKODYSTROPHY, HYPOMYELINATING, 1
cui

C0205711
Gene Locus

Xq22
Gene Symbol

SPG2

HLD1

PLP1

PMD
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU007001

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

http://purl.bioontology.org/ontology/OMIM/MTHU007000

http://purl.bioontology.org/ontology/OMIM/MTHU006997

http://purl.bioontology.org/ontology/OMIM/MTHU007002

http://purl.bioontology.org/ontology/OMIM/MTHU037278

http://purl.bioontology.org/ontology/OMIM/MTHU036340

http://purl.bioontology.org/ontology/OMIM/MTHU007004

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

http://purl.bioontology.org/ontology/OMIM/MTHU000185

http://purl.bioontology.org/ontology/OMIM/MTHU000328

http://purl.bioontology.org/ontology/OMIM/MTHU065534

http://purl.bioontology.org/ontology/OMIM/MTHU001336

http://purl.bioontology.org/ontology/OMIM/MTHU065533

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

http://purl.bioontology.org/ontology/OMIM/MTHU038541

http://purl.bioontology.org/ontology/OMIM/MTHU001903

http://purl.bioontology.org/ontology/OMIM/MTHU036384

http://purl.bioontology.org/ontology/OMIM/MTHU000133

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

http://purl.bioontology.org/ontology/OMIM/MTHU001895

http://purl.bioontology.org/ontology/OMIM/MTHU036349

http://purl.bioontology.org/ontology/OMIM/MTHU033035

http://purl.bioontology.org/ontology/OMIM/MTHU065535

http://purl.bioontology.org/ontology/OMIM/MTHU006999

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

Phenotype description, molecular basis known.
Moved from

311601
notation

312080
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

PELIZAEUS-MERZBACHER DISEASE
Scope Statement

Slowly progressive [MISCELLANEOUS]

Nystagmus may disappear by mid-childhood [MISCELLANEOUS]

Onset in infancy [MISCELLANEOUS]

Connatal form (type II), most severe with death in first decade [MISCELLANEOUS]

Spastic paraplegia 2 (SPG2, 312920) is an allelic disorder [MISCELLANEOUS]

Hearing impairment may improve with age [MISCELLANEOUS]

Classical form (type I), less severe with survival into adulthood [MISCELLANEOUS]

Caused by mutation in the proteolipid protein 1 gene (PLP1, 300401.0001) [MOLECULAR BASIS]
tui

T047
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Create mapping

Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MDRGER/10067610 MDRGER CUI
http://purl.bioontology.org/ontology/SNOMEDCT/64855000 SNOMEDCT CUI
http://purl.bioontology.org/ontology/NDFRT/N0000004128 NDFRT CUI
http://purl.bioontology.org/ontology/MDRFRE/10067610 MDRFRE CUI
http://purl.bioontology.org/ontology/MSHFRE/D020371 MSHFRE CUI
http://purl.bioontology.org/ontology/RCD/F1002 RCD CUI
http://purl.bioontology.org/ontology/SCTSPA/64855000 SCTSPA CUI
http://purl.bioontology.org/ontology/SNMI/D6-74220 SNMI CUI
http://purl.bioontology.org/ontology/ICD10CM/E75.27 ICD10CM CUI
http://purl.bioontology.org/ontology/MESH/D020371 MESH CUI
http://purl.bioontology.org/ontology/MEDDRA/10067610 MEDDRA CUI
http://purl.bioontology.org/ontology/CSP/1849-5479 CRISP CUI
http://nanbyodata.jp/ontology/NANDO_2201288 NANDO LOOM
http://nanbyodata.jp/ontology/NANDO_1200576 NANDO LOOM
http://purl.obolibrary.org/obo/DOID_3210 DOID LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#20692 OCHV LOOM
http://uri.neuinfo.org/nif/nifstd/birnlex_12546 NIFDYS LOOM
http://uri.neuinfo.org/nif/nifstd/birnlex_12546 NIFSTD LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D020371 RH-MESH LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/64855000 SNOMEDCT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.322.906 RH-MESH LOOM
http://www.phoc.org.cn/pmo/class/PMO_00038280 PMAPP-PMO LOOM
http://purl.obolibrary.org/obo/MONDO_0010714 DOVES LOOM
http://bioontology.org/projects/ontologies/birnlex#birnlex_12546 BIRNLEX LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.228.140.695.625.775 RH-MESH LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Pelizaeus_Merzbacher_Disease CSEO LOOM
http://www.gamuts.net/entity#Pelizaeus_Merzbacher_disease GAMUTS LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0205711 OCHV LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.314.400.775 RH-MESH LOOM
http://purl.jp/bio/4/id/200906000310678682 IOBC LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.228.140.163.100.362.775 RH-MESH LOOM
http://purl.bioontology.org/ontology/RCD/F1002 RCD LOOM
http://purl.obolibrary.org/obo/DOID_3210 CLO LOOM
http://purl.obolibrary.org/obo/DOID_3210 DTO LOOM
http://purl.obolibrary.org/obo/DOID_3210 BAO LOOM
http://purl.obolibrary.org/obo/DOID_3210 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_3210 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_3210 FNS-H LOOM
http://www.orpha.net/ORDO/Orphanet_702 ORDO LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_3210 NATPRO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.648.189.362.775 RH-MESH LOOM
http://purl.bioontology.org/ontology/SNMI/D6-74220 SNMI LOOM
http://purl.obolibrary.org/obo/NCIT_C75487 BERO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.565.189.362.775 RH-MESH LOOM
http://purl.bioontology.org/ontology/ICD10CM/E75.27 ICD10CM LOOM
http://www.limics.org/hrdo/rdfns#pat_id_656 HRDO LOOM
http://purl.bioontology.org/ontology/MESH/D020371 MESH LOOM
http://purl.bioontology.org/ontology/RCTV2/F100200 RCTV2 LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C75487 NCIT LOOM
http://purl.obolibrary.org/obo/OMIT_0020258 OMIT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.132.100.362.775 RH-MESH LOOM
http://purl.bioontology.org/ontology/MEDDRA/10067610 MEDDRA LOOM