About: Pelizaeus-Merzbacher Disease

Facets (new session)
Description
Metadata
Settings
- owl:sameAs
- Inference Rule:

About: Pelizaeus-Merzbacher Disease Goto Sponge Distinct Permalink

An Entity of Type : owl:Class, within Data Space : linked.opendata.cz:8890 associated with source document(s)

Attributes	Values
rdf:type	Class
rdfs:label	Pelizaeus-Merzbacher Disease
rdfs:subClassOf	Central Nervous System Degenerative Disorder Rare Non-Neoplastic Disorder
Semantic_Type	Disease or Syndrome
Preferred_Name	Pelizaeus-Merzbacher Disease
UMLS_CUI	C0205711
Legacy_Concept_Name	Pelizaeus_Merzbacher_Disease
FULL_SYN	Pelizaeus-Merzbacher DiseasePTNCI
DEFINITION	An X-linked inherited disorder caused by mutations in the PLP1 gene on chromosome X. The signs and symptoms are the result of defective myelination of the central nervous system and include nystagmus, hypotonia, tremor, ataxia, spastic quadriparesis, and diffuse leukoencephalopathy.NCI
code	C75487
http://linked.open...y/mesh/hasConcept	http://linked.opendata.cz/resource/mesh/concept/M0003895
is someValuesFrom of	nodeID://b694268 nodeID://b699955
is sameAs of	Pelizaeus-Merzbacher Disease

Faceted Search & Find service v1.16.121 as of Mar 31 2025

Alternative Linked Data Documents: ODE Content Formats:

RDF

ODATA

Microdata

About

OpenLink Virtuoso version 07.20.3240 as of Mar 31 2025, on Linux (x86_64-pc-linux-gnu), Single-Server Edition (126 GB total memory, 55 GB memory in use)
Data on this page belongs to its respective rights holders.
Virtuoso Faceted Browser Copyright © 2009-2025 OpenLink Software