About: hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism

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About: hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism Goto Sponge NotDistinct Permalink

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://b50939414
label	hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0060797
database_cross_reference	ICD10CM:G11.1 OMIM:614381
has_exact_synonym	HLD8 (en)
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of early childhood onset of cerebellar ataxia, mild intellectual disabilities associated with diffuse hypomyelination and variable development of oligodontia and/or hypogonadotropic hypogonadism that has_material_basis_in compound heterozygous mutation in the POLR3B gene on chromosome 12q23.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50939415

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