About: Mannosidosis

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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	Mannosidosis
rdfs:subClassOf	Lysosomal Storage Diseases
Has_NICHD_Parent	Lysosomal Storage Diseases Autosomal Recessive Inherited Disorder
Concept_In_Subset	NICHD Terminology Neonatal Research Network Terminology
Semantic_Type	Disease or Syndrome
Preferred_Name	Mannosidosis
UMLS_CUI	C1257960
Contributing_Source	NICHD
Legacy_Concept_Name	Mannosidosis
FULL_SYN	MannosidosisPTNCI MannosidosisPTNICHD
DEFINITION	A rare autosomal recessive lysosomal storage disease characterized by a deficient activity of the enzymes alpha-D-mannosidase or beta-mannosidase. Clincal signs and symptoms include hepatomegaly, splenomegaly, hearing loss, mental retardation, skeletal abnormalities, and recurrent respiratory infections.NCI
code	C61275
http://linked.open...y/mesh/hasConcept	http://linked.opendata.cz/resource/mesh/concept/M0446510
is rdfs:subClassOf of	alpha-Mannosidosis beta-Mannosidosis
is sameAs of	Mannosidase Deficiency Diseases

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