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Pelizeaus-Merzbacher spectrum disorder

Go to external page http://purl.obolibrary.org/obo/MONDO_0010714

An X-linked leukodystrophy characterized by developmental delay, nystagmus, hypotonia, spasticity, and variable intellectual deficit. It is classified into three sub-forms based on the age of onset and severity: connatal, transitional, and classic PMD. [ Orphanet:702 ]

Synonyms: HLD1 Pelizaeus-Merzbacher disease diffuse familial brain sclerosis Pelizeaus-Merzbacher spectrum disorder leukodystrophy, sudanophilic PMD Pelizaeus-Merzbacher disease, X-linked recessive Pelizaeus-Merzbacher brain sclerosis Sudanophilic leukodystrophy, Paelizeus-Merzbacher type sudanophilic leukodystrophy, Paelizeus-Merzbacher type hypomyelinating leukodystrophy 1 Pelizaeus Merzbacher brain sclerosis

This is just here as a test because I lose it

Term information

database cross reference
  • Orphanet:702 (OMIM:312080)
  • NCIT:C75487 (MONDO:equivalentTo)
  • MEDGEN:61440 (MONDO:equivalentTo)
  • icd11.foundation:1313582105 (https://orcid.org/0000-0002-4142-7153)
  • MESH:D020371 (Orphanet:702/e)
  • NANDO:1200576 (https://orcid.org/0000-0003-0011-764X)
  • DOID:3210 (MONDO:equivalentTo)
  • NANDO:2201288 (https://orcid.org/0000-0003-0011-764X)
  • OMIM:312080 (Orphanet:702/e)
  • GARD:4265 (MONDO:GARD)
  • UMLS:C0205711 (MONDO:equivalentTo)
  • MedDRA:10067610 (Orphanet:702/e)
  • DECIPHER:38 (MONDO:equivalentTo)
  • SCTID:64855000 (MONDO:equivalentTo)
Subsets

ordo_disorder, gard_rare, otar, rare, nord_rare, orphanet_rare, clingen

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/7081

https://github.com/monarch-initiative/mondo/issues/5588

https://github.com/monarch-initiative/mondo/issues/4521

closeMatch

http://identifiers.org/meddra/10067610

exactMatch

http://identifiers.org/mesh/D020371

http://linkedlifedata.com/resource/umls/id/C0205711

http://www.orpha.net/ORDO/Orphanet_702

https://omim.org/entry/312080

http://identifiers.org/snomedct/64855000

http://purl.obolibrary.org/obo/DOID_3210

http://identifiers.org/medgen/61440

http://purl.obolibrary.org/obo/NCIT_C75487

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0020119

has related synonym

Pelizaeus Merzbacher disease

leukodystrophy, hypomyelinating, 1

id

MONDO:0010714

seeAlso

https://rarediseases.info.nih.gov/diseases/4265/pelizaeus-merzbacher-disease

Term relations

Subclass of: