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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

MESH:C567582

OMIM:300804

Synonyms

JBTS10 [EXACT]

Parent Relationships

is_a X-linked recessive disease

is_a Joubert syndrome

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