The null syndrome is part of the Pelizaeus-Merzbacher disease (PMD) spectrum and is characterized by mild PMD features associated with demyelinating peripheral neuropathy. [ Orphanet:280234 ]
Synonyms: Pelizaeus-Merzbacher disease, null syndrome PLP1 null syndrome
Term information
- GARD:17292 (MONDO:GARD)
- MEDGEN:1740046 (MONDO:equivalentTo)
- UMLS:C5439441 (MONDO:equivalentTo)
- Orphanet:280234 (MONDO:equivalentTo)
gard_rare, otar, ordo_subtype_of_a_disorder, rare, nord_rare
http://www.orpha.net/ORDO/Orphanet_280234
http://identifiers.org/medgen/1740046
http://linkedlifedata.com/resource/umls/id/C5439441