loading...| Preferred Name |
GALACTOSEMIA III |
|
| Synonyms |
GALAC3 |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/230350 |
|
| altLabel |
GALAC3 GALACTOSE EPIMERASE DEFICIENCY UDP-GALACTOSE-4-EPIMERASE DEFICIENCY GALE DEFICIENCY |
|
| cui |
C0751161 |
|
| Gene Locus |
1p36-p35 |
|
| Gene Symbol |
GALE |
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU001744 http://purl.bioontology.org/ontology/OMIM/MTHU000364 http://purl.bioontology.org/ontology/OMIM/MTHU012917 http://purl.bioontology.org/ontology/OMIM/MTHU000197 http://purl.bioontology.org/ontology/OMIM/MTHU012915 http://purl.bioontology.org/ontology/OMIM/MTHU001254 http://purl.bioontology.org/ontology/OMIM/MTHU000225 http://purl.bioontology.org/ontology/OMIM/MTHU000661 http://purl.bioontology.org/ontology/OMIM/MTHU002997 http://purl.bioontology.org/ontology/OMIM/MTHU000133 http://purl.bioontology.org/ontology/OMIM/MTHU012913 http://purl.bioontology.org/ontology/OMIM/MTHU036371 http://purl.bioontology.org/ontology/OMIM/MTHU012916 |
|
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
|
| notation |
230350 |
|
| OMIM Entry Type |
3 |
|
| OMIM MimType Value |
pound |
|
| prefLabel |
GALACTOSEMIA III |
|
| Scope Statement |
Caused by mutations in the UDP-galaltose-4-epimerase gene, 'mild' form (GALE, 606953.0001). [MOLECULAR BASIS] Caused by mutations in the UDP-galactose-4-epimerase gene, 'severe' form (GALE, 606953.0008) [MOLECULAR BASIS] UDP-galactose-4-epimerase deficiency in circulating blood cells only ('peripheral' or 'mild' form, usually asymptomatic) [MISCELLANEOUS] |
|
| tui |
T047 |