About: Krabbe Disease

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An Entity of Type : owl:Class, within Data Space : linked.opendata.cz associated with source document(s)

Attributes	Values
rdf:type	Class
rdfs:label	Krabbe Disease
rdfs:subClassOf	Leukodystrophy
Has_NICHD_Parent	Enzyme Deficiency
Concept_In_Subset	NICHD Terminology Neonatal Research Network Terminology
Semantic_Type	Disease or Syndrome
Preferred_Name	Krabbe Disease
UMLS_CUI	C0023521
Contributing_Source	NICHD
Legacy_Concept_Name	Krabbe_Disease
FULL_SYN	Krabbe DiseasePTNCI Globoid Cell LeukodystrophySYNCI Galactosylceramide Beta-Galactosidase DeficiencyPTNICHD
DEFINITION	A rare inherited neurodegenerative disorder that belongs to the group of leukodystrophies. It is characterized by myelin destruction, gliosis in the brain, and the presence of multinucleated globoid cells. Signs and symptoms include irritability, mental and motor developmental disturbances, muscle weakness, seizures, blindness, and deafness.NCI
code	C61254
http://linked.open...y/mesh/hasConcept	http://linked.opendata.cz/resource/mesh/concept/M0012415
is sameAs of	Leukodystrophy, Globoid Cell

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