1 Child Term
Identifier | Name | Description |
---|---|---|
DOID:0110989 | Joubert syndrome 20 | A Joubert syndrome that has_material_basis_in compound heterozygous mutation in the TMEM231 gene on chromosome 16q23. |
1 Parent Term
Identifier | Name | Description |
---|---|---|
DOID:331 | central nervous system disease | A nervous system disease that affects either the spinal cord (myelopathy) or brain (encephalopathy) of the central nervous system. |