Preferred Name |
alpha-mannosidosis |
|
Synonyms |
alpha-mannosidosis lysosomal alpha-D-mannosidase deficiency alpha-mannosidase deficiency mannosidosis, alpha-, types I and II deficiency of alpha-mannosidase Alpha-D-mannosidosis Alpha mannosidase B deficiency lysosomal Alpha-D-mannosidase deficiency mannosidosis, alpha B lysosomal mannosidosis, ALPHA B, lysosomal MANSA Alpha-mannosidase B deficiency |
|
Definitions |
Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit. |
|
ID |
http://purl.obolibrary.org/obo/MONDO_0009561 |
|
disease has feature | ||
has_exact_synonym |
alpha-mannosidosis lysosomal alpha-D-mannosidase deficiency alpha-mannosidase deficiency mannosidosis, alpha-, types I and II deficiency of alpha-mannosidase Alpha-D-mannosidosis |
|
has_related_synonym |
Alpha mannosidase B deficiency lysosomal Alpha-D-mannosidase deficiency mannosidosis, alpha B lysosomal mannosidosis, ALPHA B, lysosomal MANSA Alpha-mannosidase B deficiency |
|
IAO_0000233 | ||
label |
alpha-mannosidosis |
|
prefixIRI |
MONDO:0009561 |
|
prefLabel |
alpha-mannosidosis |
|
seeAlso |
https://rarediseases.info.nih.gov/diseases/6968/alpha-mannosidosis |
|
textual definition |
Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit. |
|
subClassOf |
http://purl.obolibrary.org/obo/MONDO_0019251 |