Metadata | |
---|---|
ID | DOID:0110980 |
Name | Joubert syndrome 1 |
Definition | A Joubert syndrome that has_material_basis_in homozygous mutation in the INPP5E gene on chromosome 9q34. https://www.ncbi.nlm.nih.gov/pubmed/19668216 |
Xrefs | |
Synonyms |
cerebellooculorenal syndrome 1 [EXACT] cerebelloparenchymal disorder IV [EXACT] CORS1 [EXACT] CPD4 [EXACT] JBTS1 [EXACT] |
Parent Relationships |
is_a Joubert syndrome |