About: hypomyelinating leukodystrophy 10

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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://b50939396
label	hypomyelinating leukodystrophy 10
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0060788
database_cross_reference	OMIM:616420
has_exact_synonym	HLD10 (en)
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of progressive postnatal microcephaly, severely delayed psychomotor development and hypomyelination that has_material_basis_in homozygous mutation in the PYCR2 gene on chromosome 1q42.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50939397

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