About: hypomyelinating leukodystrophy 6

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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 dominant disease hypomyelinating leukodystrophy nodeID://b50939416
label	hypomyelinating leukodystrophy 6
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0060798
database_cross_reference	ICD10CM:E75.2 OMIM:612438 ORDO:139441
has_exact_synonym	hypomyelination with atrophy of basal ganglia and cerebellum (en) H-ABC (en) HABC (en) HLD6 (en) hypomyelinating leukodystrophy with atrophy of the basal ganglia and cerebellum (en)
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	A hypomyelinating leukodystrophy characterized by infant or early childhood onset of delayed motor development and gait instability, followed by extrapyramidal movement disorders, progressive spastic tetraplegia, ataxia, hypomyelination, cerebellar atrophy, and atrophy or disappearance of the putamen that has_material_basis_in heterozygous mutation in the TUBB4A gene on chromosome 19p13.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50939417

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