Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Disease ID: disease_node_16833
Connections displayed (default: 10).
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| Dbxref | MIM:619121 |
|---|---|
| Subclassof | DOID_700, DOID_0050737, DOID_9252 |
| Data Source | DOID |
| Synonyms | NEDCASB |
| Doid Label | neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities |
| Doid Description | An mitochondrial metabolism disease characterized by global neurodevelopmental delay, severely impaired intellectual development, poor overall growth, spasticity of the lower limbs resulting in gait difficulties, and progressive hypertrophic cardiomyopathy or cardiac developmental anomalies that has_material_basis_in homozygous or compound heterozygous mutation in the SHMT2 gene on chromosome 12q13.3. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_16833 |
| Doid Id | DOID_0070543 |
| Label | Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Amino Acid Metabolism, Inborn Errors(ID:disease_node_1143) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Mitochondrial Diseases(ID:disease_node_10985) (Disease)