JSON

alpha-mannosidosis

^ http://purl.obolibrary.org/obo/MONDO_0009561

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

Term info

database cross reference
  • OMIM:248500 (Orphanet:61/e)
  • SCTID:65524005 (MONDO:equivalentTo)
  • Orphanet:61 (OMIM:248500)
  • ICD9:271.8 (MONDO:relatedTo)
  • GARD:0006968 (MONDO:equivalentTo)
  • DOID:3413 (MONDO:equivalentTo)
  • NCIT:C84548 (MONDO:equivalentTo)
  • UMLS:C0024748 (Orphanet:61/e)
  • MESH:D008363 (Orphanet:61/e)
Subsets

gard_rare, ordo_disease

abbreviation
MANSA [ MONDO:Lexical OMIM:248500 ]

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/4521, https://github.com/monarch-initiative/mondo/issues/4948

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/mesh/D008363, http://purl.obolibrary.org/obo/NCIT_C84548, http://purl.obolibrary.org/obo/Orphanet_61, http://linkedlifedata.com/resource/umls/id/C0024748, https://omim.org/entry/248500, http://identifiers.org/snomedct/65524005

has exact synonym

Alpha-D-mannosidosis, mannosidosis, alpha-, types I and II, 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, lysosomal Alpha-D-mannosidase deficiency, Alpha mannosidase B deficiency

id

MONDO:0009561

seeAlso

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