Childhood-Onset Neurodegeneration With Brain Atrophy
Disease ID: disease_node_16101
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| Dbxref | GARD:13658, MIM:617672, ORDO:500180, SNOMEDCT_US_2023_03_01:1167373005, UMLS_CUI:C4540086, UMLS_CUI:C5567227 |
|---|---|
| Subclassof | DOID_0050736, DOID_1289 |
| Data Source | DOID |
| Synonyms | CONDBA, childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder |
| Doid Label | childhood-onset neurodegeneration with brain atrophy |
| Doid Description | A neurodegenerative disease characterized by loss of motor and cognitive skills between ages 2 and 7 years with progressive cerebral and cerebellar atrophy, resulting in the inability to walk, absence of language, and profound intellectual disability, that has_material_basis_in heterozygous mutation in the UBTF gene on chromosome 17q21.31. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_16101 |
| Doid Id | DOID_0070474 |
| Label | Childhood-Onset Neurodegeneration With Brain Atrophy |
- Outgoing r'ship
SUBCLASS_OFto/from Neurodegenerative Diseases(ID:disease_node_9989) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease)