Beta-mannosidosis is a very rare lysosomal storage disease characterized by developmental delay of varying severity and hearing loss, but that can manifest a wide phenotypic heterogeneity. [ Orphanet:118 ]

This is just here as a test because I lose it

Term information

database cross reference
  • SCTID:238047006 (MONDO:equivalentTo)
  • GARD:0000869 (Orphanet-shared)
  • OMIM:248510 (Orphanet:118)
  • Orphanet:118 (OMIM:248510)
  • MESH:D044905 (Orphanet:118)
  • UMLS:C4048196 (MONDO:equivalentTo)
  • DOID:3633 (MONDO:equivalentTo)
  • ICD9:271.8 (i2s)
  • ICD10:E77.1 (Orphanet:118)
  • NCIT:C84596 (MONDO:equivalentTo)
Subsets

ordo_disease

closeMatch

http://linkedlifedata.com/resource/umls/id/C2931893

definition

Beta-mannosidosis is a very rare lysosomal storage disease characterized by developmental delay of varying severity and hearing loss, but that can manifest a wide phenotypic heterogeneity.

exactMatch

http://purl.obolibrary.org/obo/DOID_3633

http://linkedlifedata.com/resource/umls/id/C0342849

http://identifiers.org/omim/248510

http://www.orpha.net/ORDO/Orphanet_118

http://identifiers.org/snomedct/238047006

http://linkedlifedata.com/resource/umls/id/C4048196

http://purl.obolibrary.org/obo/NCIT_C84596

http://identifiers.org/mesh/D044905

has exact synonym

beta-mannosidase deficiency

Beta-mannosidase deficiency

lysosomal beta-mannosidase deficiency

Beta-D-mannosidosis

beta-mannosidosis

has related synonym

MANSB

lysosomal Beta-mannosidase deficiency

mannosidosis, BETA A, lysosomal

id

MONDO:0009562