Preferred Name |
Fucosidosis |
|
Synonyms |
Fucosidosis |
|
Definitions |
An autosomal recessive lysosomal storage disease characterized by a defective alpha-L-fucosidase. It results in accumulation of fucose in the tissues. Signs and symptoms include psychomotor retardation, dysostosis multiplex, and neural disturbances. |
|
ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C61274 |
|
code |
C61274 |
|
Concept_In_Subset |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C90259 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C116977 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C192842 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C118168 |
|
Contributing_Source |
Cellosaurus CTRP NICHD |
|
DEFINITION |
An autosomal recessive lysosomal storage disease characterized by a defective alpha-L-fucosidase. It results in accumulation of fucose in the tissues. Signs and symptoms include psychomotor retardation, dysostosis multiplex, and neural disturbances. |
|
Display_Name |
Fucosidosis |
|
FULL_SYN |
Fucosidosis |
|
label |
Fucosidosis |
|
Legacy Concept Name |
Fucosidosis |
|
Preferred_Name |
Fucosidosis |
|
prefixIRI |
Thesaurus:C61274 |
|
Semantic_Type |
Disease or Syndrome |
|
UMLS_CUI |
C0016788 |
|
subClassOf |