loading...| Preferred Name |
alpha-Mannosidosis [Disease/Finding] |
|
| Synonyms |
Mannosidosis, alpha B, Lysosomal |
|
| ID |
http://purl.bioontology.org/ontology/NDFRT/N0000001940 |
|
| altLabel |
Mannosidosis, alpha B, Lysosomal Mannosidosis, alpha B Lysosomal Lysosomal alpha-D-Mannosidase Deficiency Lysosomal Alpha B Mannosidosis Alpha-Mannosidase B Deficiency Alpha-D-Mannosidosis alpha-Mannosidosis Alpha-Mannosidosis, Type I alpha Mannosidase B Deficiency alpha-Mannosidase Deficiency |
|
| cui |
C0024748 |
|
| MESH DEFINITION |
An inborn error of metabolism marked by a defect in the lysosomal isoform of ALPHA-MANNOSIDASE activity that results in lysosomal accumulation of mannose-rich intermediate metabolites. Virtually all patients have psychomotor retardation, facial coarsening, and some degree of dysostosis multiplex. It is thought to be an autosomal recessive disorder. |
|
| MESH DUI |
D008363 |
|
| MeSH name |
alpha-Mannosidosis |
|
| MESH UI |
M0013006 |
|
| NDFRT kind |
DISEASE_KIND |
|
| notation |
N0000001940 |
|
| NUI |
N0000001940 |
|
| prefLabel |
alpha-Mannosidosis [Disease/Finding] |
|
| SNOMED CID |
124466001 |
|
| tui |
T047 |
|
| subClassOf |