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loading...| Preferred Name |
GALACTOSEMIA II |
|
| Synonyms |
GALACTOKINASE DEFICIENCY |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/230200 |
|
| altLabel |
GALACTOKINASE DEFICIENCY GALAC2 GALK DEFICIENCY |
|
| cui |
C0268155 |
|
| Gene Locus |
17q24 |
|
| Gene Symbol |
GALK1 |
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU012915 http://purl.bioontology.org/ontology/OMIM/MTHU023352 http://purl.bioontology.org/ontology/OMIM/MTHU023353 |
|
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
|
| notation |
230200 |
|
| OMIM Entry Type |
3 |
|
| OMIM MimType Value |
pound |
|
| prefLabel |
GALACTOSEMIA II |
|
| Scope Statement |
Distinct disorder from galactosemia (230400) [MISCELLANEOUS] Caused by mutation in the galactokinase 1 gene (GALK1, 604313.0001) [MOLECULAR BASIS] |
|
| tui |
T047 |
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