loading...| Preferred Name |
galactokinase deficiency |
|
| Synonyms |
galactokinase deficiency galactosemia galactokinase deficiency with cataracts galactosemia type 2 galactosemia II GALK-D galactokinase deficiency GALK deficiency Galk deficiency galactosemia 2 hereditary galactokinase deficiency |
|
| Definitions |
Galactokinase deficiency is 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. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0009255 |
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| has_exact_synonym |
galactokinase deficiency galactosemia galactokinase deficiency with cataracts galactosemia type 2 galactosemia II GALK-D galactokinase deficiency GALK deficiency |
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| has_related_synonym |
Galk deficiency galactosemia 2 hereditary galactokinase deficiency |
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| IAO_0000233 | ||
| label |
galactokinase deficiency |
|
| prefixIRI |
MONDO:0009255 |
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| prefLabel |
galactokinase deficiency |
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| seeAlso |
https://rarediseases.info.nih.gov/diseases/2422/galactokinase-deficiency |
|
| textual definition |
Galactokinase deficiency is 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. |
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| subClassOf |