About: hypomyelinating leukodystrophy 13

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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://b50939410
label	hypomyelinating leukodystrophy 13
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0060795
database_cross_reference	OMIM:616881
has_exact_synonym	HLD13 (en)
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of infantile onset of delayed psychomotor development, axial hypotonia, and spasticity associated with delayed myelination and periventricular white matter abnormalities that has_material_basis_in homozygous mutation in the C11ORF73 gene on chromosome 11q14.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50939411

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