loading...| Preferred Name | galactosemia | |
| Synonyms |
galactose intolerance galactosaemia galactosemia |
|
| 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 |
|
| curated_content_resource |
https://search.clinicalgenome.org/kb/conditions/MONDO:0018116 |
|
| database_cross_reference |
NCIT:C84723 UMLS:C0016952 SCTID:190745006 SCTID:190749000 MEDGEN:8943 MedDRA:10017604 Orphanet:352 MESH:D005693 OMIMPS:230400 DOID:9870 GARD:2424 ICD9:271.1 NORD:1170 |
|
| 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. |
|
| has_exact_synonym |
galactose intolerance galactosaemia galactosemia |
|
| id |
MONDO:0018116 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#clingen http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_group_of_disorders http://purl.obolibrary.org/obo/mondo/mondo-base#disease_grouping |
|
| label |
galactosemia |
|
| notation |
MONDO:0018116 |
|
| preferred label |
galactosemia |
|
| prefLabel |
galactosemia |
|
| skos_closeMatch | ||
| skos_exactMatch |
http://purl.obolibrary.org/obo/DOID_9870 http://purl.obolibrary.org/obo/NCIT_C84723 http://identifiers.org/medgen/8943 http://linkedlifedata.com/resource/umls/id/C0016952 http://identifiers.org/snomedct/190745006 https://omim.org/phenotypicSeries/PS230400 |
|
| subClassOf | ||
| excluded_subClassOf |