National Drug File - Reference Terminology - Mucopolysaccharidosis IV [Disease/Finding] - Classes

Last uploaded: July 6, 2018

Id	http://purl.bioontology.org/ontology/NDFRT/N0000002046 http://purl.bioontology.org/ontology/NDFRT/N0000002046
Preferred Name	Mucopolysaccharidosis IV [Disease/Finding]
Synonyms	Mucopolysaccharidosis 4 Mucopolysaccharidosis Type IV Eccentroosteochondrodysplasia Morquio's Syndrome Mucopolysaccharidosis IV Eccentro-Osteochondrodysplasia Morquio's Disease Morquio Disease Morquio Syndrome
Type	http://www.w3.org/2002/07/owl#Class

altLabel	Mucopolysaccharidosis 4 Mucopolysaccharidosis Type IV Eccentroosteochondrodysplasia Morquio's Syndrome Mucopolysaccharidosis IV Eccentro-Osteochondrodysplasia Morquio's Disease Morquio Disease Morquio Syndrome See more See less
prefLabel	Mucopolysaccharidosis IV [Disease/Finding]
notation	N0000002046
May be treated by	http://purl.bioontology.org/ontology/NDFRT/N0000190127 http://purl.bioontology.org/ontology/NDFRT/N0000190475
MESH DEFINITION	Genetic disorder of mucopolysaccharide metabolism characterized by skeletal abnormalities, joint instability, development of cervical myelopathy, and excessive urinary keratan sulfate. There are two biochemically distinct forms, each due to a deficiency of a different enzyme.
MESH UI	M0014173
subClassOf	http://purl.bioontology.org/ontology/NDFRT/N0000002044
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
MeSH name	Mucopolysaccharidosis IV
NDFRT kind	DISEASE_KIND
type	http://www.w3.org/2002/07/owl#Class
SNOMED CID	378007
tui	T047
NUI	N0000002046
cui	C0026707
MESH DUI	D009085

Delete	Subject	Author	Type	Created
No notes to display