Stress-Induced Childhood-Onset Neurodegeneration With Variable Ataxia And Seizures
Disease ID: disease_node_16102
Connections displayed (default: 10).
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| Dbxref | MIM:618170 |
|---|---|
| Subclassof | DOID_1289, DOID_0050737 |
| Data Source | DOID |
| Synonyms | CONDSIAS |
| Doid Label | stress-induced childhood-onset neurodegeneration with variable ataxia and seizures |
| Doid Description | A neurodegenerative disease characterized by variable ataxia and seizures, has_material_basis_in homozygous mutation in the ADPRHL2 gene on chromosome 1p34, and has_symptom seizures, muscle weakness, giat ataxia, impaired speech, hearing loss, and cerebellar atrophy. |
| Has Symptom | SYMP_0000124, SYMP_0000005, SYMP_0000094 |
| Existence Starts During | HP_0011463 |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_16102 |
| Doid Id | DOID_0070352 |
| Label | Stress-Induced Childhood-Onset Neurodegeneration With Variable Ataxia And Seizures |
- Outgoing r'ship
HAS_SYMPTOMto/from Ataxia(ID:disease_node_1424;disease_node_21621) (Disease) - Outgoing r'ship
HAS_SYMPTOMto/from Muscle Weakness(ID:disease_node_9835;disease_node_21022) (Disease) - Outgoing r'ship
HAS_SYMPTOMto/from Seizure(ID:disease_node_21382) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Neurodegenerative Diseases(ID:disease_node_9989) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)