Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly
Disease ID: disease_node_16442
Connections displayed (default: 10).
Loading graph...
| Dbxref | MIM:616281, ORDO:477673, UMLS_CUI:C4225388, UMLS_CUI:C5567787 |
|---|---|
| Subclassof | DOID_0060308, DOID_9252 |
| Data Source | DOID |
| Synonyms | GPT2 deficiency, MRT49, NEDSPM, autosomal recessive mental retardation 49, glutamate pyruvate transaminase 2 deficiency |
| Doid Label | neurodevelopmental disorder with spastic paraplegia and microcephaly |
| Doid Description | An amino acid metabolic disorder characterized delayed psychomotor development with delayed walking, moderately to severely impaired intellectual development, and poor or absent speech that has_material_basis_in homozygous or compound heterozygous mutation in the GPT2 gene on chromosome 16q11.2. Postnatal microcephaly and spastic paraplegia are also common. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_16442 |
| Doid Id | DOID_0070542 |
| Label | Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly |
- Outgoing r'ship
SUBCLASS_OFto/from Amino Acid Metabolism, Inborn Errors(ID:disease_node_1143) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Intellectual Developmental Disorder(ID:disease_node_16368) (Disease)