About: hypomyelinating leukodystrophy 3

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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://b50939400
label	hypomyelinating leukodystrophy 3
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0060790
database_cross_reference	ICD10CM:E75.2 OMIM:260600 ORDO:280293
has_exact_synonym	Pelizaeus-Merzbacher-like disease due to AIMP1 mutation (en) HLD3 (en)
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of early infantile onset of global developmental delay, lack of development, lack of speech acquisition, and peripheral spasticity associated with decreased myelination in the central nervous system that has_material_basis_in homozygous mutation in the AIMP1 gene on chromosome 4q24.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50939401

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