Preferred Name |
galactosemia |
|
Synonyms |
galactosemia galactosaemia galactose intolerance |
|
Definitions |
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. |
|
ID |
http://purl.obolibrary.org/obo/MONDO_0018116 |
|
closeMatch | ||
database_cross_reference |
MedDRA:10017604 NCIT:C84723 MESH:D005693 SCTID:190749000 ICD9:271.1 DOID:9870 OMIMPS:230400 UMLS:C0016952 GARD:2424 SCTID:190745006 NORD:1170 Orphanet:352 |
|
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://purl.obolibrary.org/obo/DOID_9870 http://purl.obolibrary.org/obo/NCIT_C84723 http://linkedlifedata.com/resource/umls/id/C0016952 http://identifiers.org/snomedct/190745006 https://omim.org/phenotypicSeries/PS230400 |
|
has_exact_synonym |
galactosemia galactosaemia galactose intolerance |
|
id |
MONDO:0018116 |
|
in_subset |
http://purl.obolibrary.org/obo/mondo#rare http://purl.obolibrary.org/obo/mondo#nord_rare http://purl.obolibrary.org/obo/mondo#otar http://purl.obolibrary.org/obo/mondo#gard_rare http://purl.obolibrary.org/obo/mondo#disease_grouping http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders |
|
label |
galactosemia |
|
notation |
MONDO:0018116 |
|
prefLabel |
galactosemia |
|
excluded_subClassOf | ||
subClassOf |