About: Pelizaeus-Merzbacher disease

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An Entity of Type : owl:Class, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

Attributes	Values
type	Class
subClassOf	hypomyelinating leukodystrophy X-linked recessive disease nodeID://b50951663
label	Pelizaeus-Merzbacher disease
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:3210
database_cross_reference	GARD:4265 MESH:D020371 NCI:C75487 OMIM:312080 ORDO:702 SNOMEDCT_US_2021_09_01:64855000 UMLS_CUI:C0205711
has_exact_synonym	HLD1 (en) Leukodystrophy, sudanophilic (en) PMD (en) Pelizaeus Merzbacher brain sclerosis (en) Pelizaeus-Merzbacher brain sclerosis (en) diffuse familial brain sclerosis (en) hypomyelinating leukodystrophy 1 (en) sudanophilic leukodystrophy, Paelizeus-Merzbacher type (en)
has_obo_namespace	disease_ontology
in_subset	NCIthesaurus
http://purl.obolib...g/obo/IAO_0000115	A hypomyelinating leukodystrophy characterized by impaired myelin formation, nystagmus, spastic quadriplegia, ataxia, and developmental delay that has_material_basis_in mutation in the PLP1 gene on chromosome Xq22.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50951664

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