Preferred Name |
alpha-mannosidosis |
|
Synonyms |
alpha-mannosidosis lysosomal alpha-D-mannosidase deficiency alpha-mannosidase deficiency Alpha-D-mannosidosis deficiency of alpha-mannosidase mannosidosis, alpha-, types I and II lysosomal Alpha-D-mannosidase deficiency mannosidosis, ALPHA B, lysosomal Alpha-mannosidase B deficiency Alpha mannosidase B deficiency mannosidosis, alpha B lysosomal MANSA |
|
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 |
|
database_cross_reference |
Orphanet:61 MESH:D008363 UMLS:C0024748 NANDO:1200126 NCIT:C84548 SCTID:65524005 OMIM:248500 DOID:3413 GARD:6968 ICD9:271.8 NORD:755 |
|
definition |
Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit. |
|
exactMatch |
http://linkedlifedata.com/resource/umls/id/C0024748 http://identifiers.org/snomedct/65524005 http://identifiers.org/mesh/D008363 http://purl.obolibrary.org/obo/Orphanet_61 http://purl.obolibrary.org/obo/NCIT_C84548 |
|
has_exact_synonym |
alpha-mannosidosis lysosomal alpha-D-mannosidase deficiency alpha-mannosidase deficiency Alpha-D-mannosidosis deficiency of alpha-mannosidase mannosidosis, alpha-, types I and II |
|
has_related_synonym |
lysosomal Alpha-D-mannosidase deficiency mannosidosis, ALPHA B, lysosomal Alpha-mannosidase B deficiency Alpha mannosidase B deficiency mannosidosis, alpha B lysosomal MANSA |
|
IAO_0000233 | ||
id |
MONDO:0009561 |
|
in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_disease |
|
label |
alpha-mannosidosis |
|
notation |
MONDO:0009561 |
|
prefLabel |
alpha-mannosidosis |
|
see also |
https://rarediseases.info.nih.gov/diseases/6968/alpha-mannosidosis |
|
subClassOf |
http://www.ebi.ac.uk/efo/EFO_0003966 |