About: Mucopolysaccharidosis

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About: Mucopolysaccharidosis Goto Sponge NotDistinct Permalink

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

Attributes	Values
rdf:type	Class
rdfs:label	Mucopolysaccharidosis
rdfs:subClassOf	Lysosomal Storage Diseases Carbohydrate Metabolism Disorder
Has_NICHD_Parent	Lysosomal Storage Diseases
Concept_In_Subset	NICHD Terminology Neonatal Research Network Terminology
Semantic_Type	Disease or Syndrome
Preferred_Name	Mucopolysaccharidosis
UMLS_CUI	C0026703
Contributing_Source	NICHD
Legacy_Concept_Name	Mucopolysaccharidosis
FULL_SYN	MucopolysaccharidosisPTNICHD MucopolysaccharidosisPTNCI
DEFINITION	A group of autosomal recessive or X-linked inherited lysosomal storage disorders affecting the metabolism of mucopolysaccharides, resulting in the accumulation of mucopolysaccharides in the body. Signs and symptoms include organomegaly, mental retardation, abnormal skeletal development, heart disorders, hearing loss, and central nervous system deficiencies.NCI
code	C61259
http://linked.open...y/mesh/hasConcept	http://linked.opendata.cz/resource/mesh/concept/M0014167
is rdfs:subClassOf of	Mucopolysaccharidosis IV Mucopolysaccharidosis VI Mucopolysaccharidosis II Mucopolysaccharidosis III Mucopolysaccharidosis VII Mucopolysaccharidosis I
is sameAs of	Mucopolysaccharidoses

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