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loading...| Preferred Name | Mucopolysaccharidosis Type IVB | |
| Synonyms |
Mucopolysaccharidosis Type IVB MPS IV B |
|
| Definitions |
A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme beta galactosidase. It is characterized by skeletal dysplasia and short stature. |
|
| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84902 |
|
| code |
C84902 |
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| Concept_In_Subset | ||
| Contributing_Source |
Cellosaurus |
|
| 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 |
Mucopolysaccharidosis Type IVB MPS IV B |
|
| label |
Mucopolysaccharidosis Type IVB |
|
| Preferred_Name |
Mucopolysaccharidosis Type IVB |
|
| prefixIRI |
Thesaurus:C84902 |
|
| Semantic_Type |
Disease or Syndrome |
|
| UMLS_CUI |
C0086652 |
|
| subClassOf |
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