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classic galactosemia
Summary
- Synonym
-
- GALT deficiency
- galactose-1-phosphate uridyltransferase deficiency
- galactosemia type 1
- Definition
- A galactosemia that has_material_basis_in homozygous or compund 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
- OMIM
- GARD
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000869 | Secondary amenorrhea |
| HP:0000876 | Oligomenorrhea |
| HP:0000939 | Osteoporosis |
| HP:0000952 | Jaundice |
| HP:0001250 | Seizure |
| HP:0001251 | Ataxia |
| HP:0001254 | Lethargy |
| HP:0001256 | Intellectual disability, mild |
| HP:0001260 | Dysarthria |
| HP:0001263 | Global developmental delay |
