loading...| Preferred Name |
Galactokinase Deficiency |
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| Synonyms |
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| Definitions |
An autosomal recessive disorder caused by mutations in the GALK1 gene. The disorder is characterized by an accumulation of galactose and galactitol secondary to the decreased conversion of galactose to galactose-1-phosphate by galactokinase. Its major clinical symptom is the development of cataracts during the first weeks or months of life. |
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| ID |
http://purl.obolibrary.org/obo/NCIT_C114767 |
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| code |
C114767 |
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| Contributing_Source |
Cellosaurus |
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| definition |
An autosomal recessive disorder caused by mutations in the GALK1 gene. The disorder is characterized by an accumulation of galactose and galactitol secondary to the decreased conversion of galactose to galactose-1-phosphate by galactokinase. Its major clinical symptom is the development of cataracts during the first weeks or months of life. |
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| in_subset | ||
| label |
Galactokinase Deficiency |
|
| Preferred_Name |
Galactokinase Deficiency |
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| prefixIRI |
NCIT:C114767 |
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| prefLabel |
Galactokinase Deficiency |
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| Semantic_Type |
Disease or Syndrome |
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| UMLS_CUI |
C0268155 |
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| subClassOf |