galactosemia
Information
- Disease name
- galactosemia
- Disease ID
- DOID:9870
- Description
- "A carbohydrate metabolic disorder that involves a defect in galactose metabolism resulting in toxic levels of galactose 1-phosphate in various tissues." [url:http\://en.wikipedia.org/wiki/Galactosemia]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT00309400 | Completed | The Early History of Universal Screening for Metabolic Disorders | January 2006 | June 2008 | |
| NCT04948658 | Recruiting | Gonadal Tissue Freezing for Fertility Preservation in Individuals at Risk for Ovarian Dysfunction, Premature Ovarian Insufficiency and Clinically Indicated Gonadectomy | September 13, 2021 | July 31, 2030 | |
| NCT00619333 | Unknown status | N/A | Inactive FSH in Galactosemia | March 2007 |
- Disase is a (Disease Ontology)
- DOID:2978
- Cross Reference ID (Disease Ontology)
- GARD:2424
- Cross Reference ID (Disease Ontology)
- ICD10CM:E74.21
- Cross Reference ID (Disease Ontology)
- ICD9CM:271.1
- Cross Reference ID (Disease Ontology)
- MESH:D005693
- Cross Reference ID (Disease Ontology)
- NCI:C84723
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:38177000
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0016952
- Exact Synonym (Disease Ontology)
- Galactosaemia
- Exact Synonym (Disease Ontology)
- Galactose intolerance
- OrphaNumber from OrphaNet (Orphanet)
- 352