Fucosidosis is an extremely rare lysosomal storage disorder characterized by a highly variable phenotype with common manifestations including neurologic deterioration, coarse facial features, growth retardation, and recurrent sinopulmonary infections, as well as seizures, visceromegaly, angiokeratoma and dysostosis. [ Orphanet:349 ]

This is just here as a test because I lose it

Term information

database cross reference
  • MESH:D005645 (Orphanet:349)
  • Orphanet:349 (OMIM:230000)
  • SCTID:64716005 (MONDO:equivalentTo)
  • DOID:14500 (MONDO:equivalentTo)
  • ICD9:271.8 (i2s)
  • GARD:0006473 (MONDO:equivalentTo)
  • NCIT:C61274 (MONDO:equivalentTo)
  • UMLS:C0016788 (Orphanet:349)
  • ICD10:E77.1 (Orphanet:349)
  • OMIM:230000 (Orphanet:349)
Subsets

gard_rare, ordo_disease

closeMatch

http://identifiers.org/snomedct/190937009

definition

Fucosidosis is an extremely rare lysosomal storage disorder characterized by a highly variable phenotype with common manifestations including neurologic deterioration, coarse facial features, growth retardation, and recurrent sinopulmonary infections, as well as seizures, visceromegaly, angiokeratoma and dysostosis.

exactMatch

http://linkedlifedata.com/resource/umls/id/C0016788

http://identifiers.org/mesh/D005645

http://www.orpha.net/ORDO/Orphanet_349

http://identifiers.org/snomedct/64716005

http://identifiers.org/omim/230000

http://purl.obolibrary.org/obo/NCIT_C61274

http://purl.obolibrary.org/obo/DOID_14500

has exact synonym

A-fucosidase deficiency

Alpha-L-fucosidase deficiency

alpha fucosidase deficiency

fucosidosis

has related synonym

lysosomal storage disease caused by defective alpha-L-fucosidase with accumulation of fucose in the tissues

id

MONDO:0009254

seeAlso

https://rarediseases.info.nih.gov/diseases/6473/fucosidosis