| Metadata | |
|---|---|
| ID | DOID:0070616 |
| Name | glycine encephalopathy 1 |
| Definition | A glycine encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the GLDC gene, a member of the mitochondrial glycine cleavage system that encodes the P protein, on chromosome 9p24. https://medlineplus.gov/genetics/condition/nonketotic-hyperglycinemia/, https://www.ncbi.nlm.nih.gov/books/NBK1357/ |
| Xrefs | |
| SKOS |
exactMatch MIM:605899 |
| Synonyms |
GCE1 [EXACT] |
| Parent Relationships |