About: hypomyelinating leukodystrophy 4

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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	autosomal recessive disease hypomyelinating leukodystrophy nodeID://b50939398
label	hypomyelinating leukodystrophy 4
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0060789
database_cross_reference	ICD10CM:E75.2 OMIM:612233 ORDO:280288
has_exact_synonym	HLD4 (en) MitCHAP60 disease (en) mitochondrial HSP60 chaperonopathy (en) Pelizaeus-Merzbacher-like disease due to HSPD1 mutation (en)
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of hypotonia, nystagmus, psychomotor developmental delay, and severe hypomyelinating leukoencephalopathy that has_material_basis_in homozygous mutation in the HSPD1 gene on chromosome 2q33.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50939399

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