Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit. [ Orphanet:61 ]

This is just here as a test because I lose it

Term information

database cross reference
  • DOID:3413 (MONDO:equivalentTo)
  • OMIM:248500 (Orphanet:61)
  • Orphanet:61 (OMIM:248500)
  • NCIT:C84548 (MONDO:equivalentTo)
  • SCTID:65524005 (MONDO:equivalentTo)
  • UMLS:C0024748 (Orphanet:61)
  • GARD:0006968 (MONDO:equivalentTo)
  • ICD10:E77.1 (Orphanet:61)
  • MESH:D008363 (Orphanet:61)
  • ICD9:271.8 (i2s)
Subsets

gard_rare, ordo_disease

closeMatch

http://identifiers.org/snomedct/124466001

definition

Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit.

exactMatch

http://purl.obolibrary.org/obo/DOID_3413

http://identifiers.org/omim/248500

http://identifiers.org/mesh/D008363

http://purl.obolibrary.org/obo/NCIT_C84548

http://linkedlifedata.com/resource/umls/id/C0024748

http://www.orpha.net/ORDO/Orphanet_61

http://identifiers.org/snomedct/65524005

has exact synonym

Alpha-D-mannosidosis

lysosomal alpha-D-mannosidase deficiency

alpha-mannosidosis

deficiency of alpha-mannosidase

alpha-mannosidase deficiency

has related synonym

Alpha-mannosidase B deficiency

MANSA

mannosidosis, alpha B lysosomal

mannosidosis, ALPHA B, lysosomal

Alpha mannosidase B deficiency

lysosomal Alpha-D-mannosidase deficiency

id

MONDO:0009561

seeAlso

https://rarediseases.info.nih.gov/diseases/6968/alpha-mannosidosis