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loading...| Preferred Name |
Galactokinase deficiency |
| ID |
http://www.orpha.net/ORDO/Orphanet_79237 |
| alternative_term |
Galactokinase deficiency galactosemia GALK deficiency Galactosemia type 2 GALK-D |
| definition |
A rare mild form of galactosemia characterized by early onset of cataract and an absence of the usual signs of classic galactosemia, i.e. feeding difficulties, poor weight gain and growth, lethargy, and jaundice. |
| definition_citation |
Orphanet |
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79237 |
| has_age_of_onset |
Neonatal Infancy |
| has_inheritance |
Autosomal recessive |
| hasDbXref |
MeSH:C535999 ICD-11:5C51.41 ICD-10:E74.2 UMLS:C0268155 OMIM:230200 |
| label |
Galactokinase deficiency |
| notation |
ORPHA:79237 |
| part_of | |
| prefixIRI |
ORDO:Orphanet_79237 |
| prefLabel |
Galactokinase deficiency |
| present_in |
Worldwide AND has_point_prevalence_range : Unknown |
| treeView | |
| subClassOf |
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