galactosemia
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
- GARD:0002424 (MONDO:equivalentTo)
- UMLS:C0016952 (Orphanet:352/e)
- OMIMPS:230400 (MONDO:equivalentTo)
- NCIT:C84723 (MONDO:equivalentTo)
- SCTID:190749000 (MONDO:relatedTo)
- ICD9:271.1 (MONDO:i2s)
- Orphanet:352 (MONDO:equivalentTo)
- MESH:D005693 (Orphanet:352/e)
- DOID:9870 (MONDO:equivalentTo)
- MedDRA:10017604 (Orphanet:352/e)
- SCTID:190745006 (MONDO:equivalentTo)
disease_grouping, ordo_group_of_disorders
http://identifiers.org/meddra/10017604
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.
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
http://purl.obolibrary.org/obo/MONDO_0019743
galactosaemia, galactose intolerance, galactosemia
MONDO:0018116
Term relations
- disorder of galactose metabolism
- eye disorder
- disease has feature some metabolic disease
- has characteristic some rare