loading...| Preferred Name |
GALACTOSEMIA I |
|
| Synonyms |
GALT DEFICIENCY |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/230400 |
|
| altLabel |
GALT DEFICIENCY GALACTOSEMIA, DUARTE VARIANT GALAC1 GALACTOSEMIA, CLASSIC GALACTOSE-1-PHOSPHATE URIDYLYLTRANSFERASE DEFICIENCY |
|
| cui |
C0268151 C3278146 |
|
| Gene Locus |
9p13 |
|
| Gene Symbol |
GALT |
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU006276 http://purl.bioontology.org/ontology/OMIM/MTHU012906 http://purl.bioontology.org/ontology/OMIM/MTHU004637 http://purl.bioontology.org/ontology/OMIM/MTHU012910 http://purl.bioontology.org/ontology/OMIM/MTHU012908 http://purl.bioontology.org/ontology/OMIM/MTHU041910 http://purl.bioontology.org/ontology/OMIM/MTHU000226 http://purl.bioontology.org/ontology/OMIM/MTHU000225 http://purl.bioontology.org/ontology/OMIM/MTHU012911 http://purl.bioontology.org/ontology/OMIM/MTHU036371 http://purl.bioontology.org/ontology/OMIM/MTHU012909 |
|
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
|
| notation |
230400 |
|
| OMIM Entry Type |
3 |
|
| OMIM MimType Value |
pound |
|
| prefLabel |
GALACTOSEMIA I |
|
| Scope Statement |
Caused by mutation in galactose-1-phosphate uridyltransferase gene (GALT, 606999.0001) [MOLECULAR BASIS] High incidence of E. coli sepsis in untreated neonates [MISCELLANEOUS] |
|
| tui |
T047 |