Adenylosuccinase Lyase Deficiency
Disease ID: disease_node_20544
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| Dbxref | GARD:550, MIM:103050 |
|---|---|
| Subclassof | DOID_9252 |
| Data Source | DOID |
| Doid Label | adenylosuccinase lyase deficiency |
| Doid Description | An amino acid metabolic disorder that is characterized by microcephaly, aggressive behavior, cerebellar hypoplasia and seizures, has_material_basis_in autosomal recessive inheritance of mutation in the ADSL gene resulting in adenylosuccinate lyase deficiency. |
| Disease Node Id | disease_node_20544 |
| Doid Id | DOID_0050762 |
| Label | Adenylosuccinase Lyase Deficiency |
- Outgoing r'ship
SUBCLASS_OFto/from Amino Acid Metabolism, Inborn Errors(ID:disease_node_1143) (Disease)