About: Wolman 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	Wolman Disease
rdfs:subClassOf	Lysosomal Storage Diseases
Has_NICHD_Parent	Metabolism, Inborn Errors Autosomal Recessive Inherited Disorder
Concept_In_Subset	NICHD Terminology Neonatal Research Network Terminology
Semantic_Type	Disease or Syndrome
Preferred_Name	Wolman Disease
UMLS_CUI	C0043208
Contributing_Source	NICHD
Legacy_Concept_Name	Wolman_Disease
FULL_SYN	Wolman DiseasePTNCI Wolman's DiseasePTNICHD
DEFINITION	A very rare, autosomal recessive inherited lysosomal storage disease caused by mutations in the LIPA gene. Signs and symptoms appear in infancy and include developmental delay, vomiting, abdominal distention, hepatosplenomegaly, jaundice, anemia, steatorrhea, and calcification of the adrenal glands.NCI
code	C61271
http://linked.open...y/mesh/hasConcept	http://linked.opendata.cz/resource/mesh/concept/M0023386
is sameAs of	Wolman Disease

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