1 Child Term
Identifier | Name | Description |
---|---|---|
DOID:0070474 | childhood-onset neurodegeneration with brain atrophy | 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. |
1 Parent Term
Identifier | Name | Description |
---|---|---|
DOID:863 | nervous system disease | A disease of anatomical entity that is located_in the central nervous system or located_in the peripheral nervous system. |