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GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
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Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
LM-GlycoRepo
Repository for lectin-assisted multimodality data
All Resources
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GALAXY
MCAW
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Guidelines
MIRAGE
classic galactosemia
Summary
- Synonym
-
- GALT deficiency
- galactose-1-phosphate uridyltransferase deficiency
- galactosemia type 1
- Definition
- A galactosemia that has_material_basis_in homozygous or compound heterozygous mutation in the GALT gene on chromosome 9p13.3.
- Super Class
- autosomal recessive disease galactosemia
External Links
- Disease Ontology
- DOID:0111459
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- ORDO
- GARD
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000028 | Cryptorchidism |
| HP:0000518 | Cataract |
| HP:0000707 | Abnormality of the nervous system |
| HP:0000716 | Depression |
| HP:0000729 | Autistic behavior |
| HP:0000739 | Anxiety |
| HP:0000750 | Delayed speech and language development |
| HP:0000786 | Primary amenorrhea |
| HP:0000823 | Delayed puberty |
| HP:0000868 | Decreased fertility in females |
