Metadata | |
---|---|
ID | DOID:0110981 |
Name | Joubert syndrome 10 |
Definition | A Joubert syndrome that has_material_basis_in X-linked recessive inheritance of mutation in the OFD1 gene on chromosome Xp22.2. https://www.ncbi.nlm.nih.gov/pubmed/19800048 |
Xrefs | |
Synonyms |
JBTS10 [EXACT] |
Parent Relationships |
is_a X-linked recessive disease is_a Joubert syndrome |