WormBase Tree Display for DO_term: DOID:0111038
expand all nodes | collapse all nodes | view schema
| DOID:0111038 | Name | hypermethioninemia due to adenosine kinase deficiency | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| Definition | A hypermethioninemia characterized by autosomal recessive inheritance of developmental delay, early-onset seizures, mild dysmorphic features, and characteristic biochemical anomalies, including persistent hypermethioninemia that has_material_basis_in homozygous mutation in the ADK gene on chromosome 10q22. | ||||
| Synonym | Exact | ADK hypermethioninemia | |||
| MRT8 | |||||
| autosomal recessive mental retardation 8 | |||||
| hypermethioninemia encephalopathy due to ADK deficiency | |||||
| hypermethioninemia encephalopathy due to adenosine kinase deficiency | |||||
| Parent | Is_a | DOID:0050544 | |||
| DB_info | Database | OMIM | disease | 614300 | |
| Attribute_of | Gene_by_orthology | WBGene00011128 |
