Jump to:
loading...| Preferred Name | Mucopolysaccharidosis Type IVB | |
| Synonyms |
|
|
| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Mucopolysaccharidosis_Type_IVB |
|
| DEFINITION |
A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme beta galactosidase. It is characterized by skeletal dysplasia and short stature. |
|
| FULL_SYN |
MPS IV B |
|
| isDefinedBy |
A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme beta galactosidase. It is characterized by skeletal dysplasia and short stature. |
|
| label |
Mucopolysaccharidosis Type IVB |
|
| prefixIRI |
Thesaurus:Mucopolysaccharidosis_Type_IVB |
|
| prefLabel |
Mucopolysaccharidosis Type IVB |
|
| Synonym |
MPS IV B |
|
| subClassOf |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Morquio_Syndrome |
Create mapping