Preferred Name | Mucopolysaccharidosis Type IVA | |
Synonyms |
|
|
ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Mucopolysaccharidosis_Type_IVA |
|
DEFINITION |
A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme galactosamine-6-sulfatase. It is characterized by skeletal and central nervous system deficits. |
|
FULL_SYN |
MPS IV A |
|
isDefinedBy |
A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme galactosamine-6-sulfatase. It is characterized by skeletal and central nervous system deficits. |
|
label |
Mucopolysaccharidosis Type IVA |
|
prefixIRI |
Thesaurus:Mucopolysaccharidosis_Type_IVA |
|
prefLabel |
Mucopolysaccharidosis Type IVA |
|
Synonym |
MPS IV A |
|
subClassOf |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Morquio_Syndrome |
Create mapping