Preferred Name |
Mucopolysaccharidosis Type IVA |
|
Synonyms |
|
|
Definitions |
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. |
|
ID |
http://purl.obolibrary.org/obo/NCIT_C84901 |
|
code |
C84901 |
|
Contributing_Source |
Cellosaurus |
|
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. |
|
in_subset | ||
label |
Mucopolysaccharidosis Type IVA |
|
Preferred_Name |
Mucopolysaccharidosis Type IVA |
|
prefixIRI |
NCIT:C84901 |
|
prefLabel |
Mucopolysaccharidosis Type IVA |
|
Semantic_Type |
Disease or Syndrome |
|
UMLS_CUI |
C0086651 |
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subClassOf |
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