loading...| Preferred Name |
Mannosidosis |
|
| Synonyms |
Mannosidosis |
|
| Definitions |
A rare autosomal recessive lysosomal storage disease characterized by a deficient activity of the enzymes alpha-D-mannosidase or beta-mannosidase. Clinical signs and symptoms include hepatomegaly, splenomegaly, hearing loss, mental retardation, skeletal abnormalities, and recurrent respiratory infections. |
|
| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C61275 |
|
| code |
C61275 |
|
| 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 |
|
| Contributing_Source |
CTRP NICHD |
|
| DEFINITION |
A rare autosomal recessive lysosomal storage disease characterized by a deficient activity of the enzymes alpha-D-mannosidase or beta-mannosidase. Clinical signs and symptoms include hepatomegaly, splenomegaly, hearing loss, mental retardation, skeletal abnormalities, and recurrent respiratory infections. |
|
| Display_Name |
Mannosidosis |
|
| FULL_SYN |
Mannosidosis |
|
| label |
Mannosidosis |
|
| Legacy Concept Name |
Mannosidosis |
|
| Preferred_Name |
Mannosidosis |
|
| prefixIRI |
Thesaurus:C61275 |
|
| Semantic_Type |
Disease or Syndrome |
|
| UMLS_CUI |
C1257960 |
|
| subClassOf |