JSON

galactosemia

^ http://purl.obolibrary.org/obo/MONDO_0018116

Galactosemia is a group of rare genetic metabolic disorders characterized by impaired galactose metabolism resulting in a range of variable manifestations encompassing a severe, life-threatening disease (classic galactosemia), a rare mild form (galactokinase deficiency) causing cataract, and a very rare form with variable severity (galactose epimerase deficiency) resembling classic galactosemia in the severe form. [ Orphanet:352 ]

Term info

database cross reference
  • NCIT:C84723 (MONDO:equivalentTo)
  • GARD:0002424 (MONDO:equivalentTo)
  • MESH:D005693 (Orphanet:352/e)
  • SCTID:190749000 (MONDO:relatedTo)
  • MedDRA:10017604 (Orphanet:352/e)
  • DOID:9870 (MONDO:equivalentTo)
  • SCTID:190745006 (MONDO:equivalentTo)
  • UMLS:C0016952 (Orphanet:352/e)
  • ICD9:271.1 (MONDO:i2s)
  • OMIMPS:230400 (MONDO:equivalentTo)
  • Orphanet:352 (MONDO:equivalentTo)
Subsets

disease_grouping, ordo_group_of_disorders

closeMatch

http://identifiers.org/meddra/10017604

definition

Galactosemia is a group of rare genetic metabolic disorders characterized by impaired galactose metabolism resulting in a range of variable manifestations encompassing a severe, life-threatening disease (classic galactosemia), a rare mild form (galactokinase deficiency) causing cataract, and a very rare form with variable severity (galactose epimerase deficiency) resembling classic galactosemia in the severe form.

exactMatch

http://linkedlifedata.com/resource/umls/id/C0016952, http://purl.obolibrary.org/obo/NCIT_C84723, https://omim.org/phenotypicSeries/PS230400, http://purl.obolibrary.org/obo/Orphanet_352, http://identifiers.org/mesh/D005693, http://purl.obolibrary.org/obo/DOID_9870, http://identifiers.org/snomedct/190745006

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0019743

has exact synonym

galactosaemia, galactose intolerance, galactosemia

id

MONDO:0018116