About: hypomyelinating leukodystrophy 5

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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://b50939406
label	hypomyelinating leukodystrophy 5
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0060793
database_cross_reference	ICD10CM:G37.8 OMIM:610532 ORDO:85163
has_exact_synonym	HLD5 (en) hypomyelination-congenital cataract syndrome (en)
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of congenital cataract, progressive neurologic impairment, and diffuse myelin deficiency that has_material_basis_in homozygous mutation in the FAM126A gene on chromosome 7p15.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50939407

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