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 ]
Term information
- 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)
ordo_disease
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.
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
beta-mannosidase deficiency
Beta-mannosidase deficiency
lysosomal beta-mannosidase deficiency
Beta-D-mannosidosis
beta-mannosidosis