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multiple types of congenital heart defects 6
Summary
- Synonym
-
- DTGA3
- dextro-looped transposition of the great arteries 3
- Definition
- A congenital heart disease that is characterized by a congenital cardiac malformation characterized by atrioventricular concordance and ventriculoarterial discordance and that has_material_basis_in heterozygous mutation in the GDF1 gene on chromosome 19p13.
- Super Class
- autosomal dominant disease congenital heart disease
External Links
- Disease Ontology
- DOID:0060772
- Mondo Disease Ontology
- OMIM
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O75072 | Ribitol-5-phosphate transferase FKTN | |
| P0CG37 | Cryptic protein | |
| P51654 | Glypican-3 | |
| P98160 | Basement membrane-specific heparan sulfate proteoglycan core protein |
