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Metadata
ID DOID:0111001
Name Joubert syndrome 6
Definition A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM67 gene on chromosome 8q22.
https://www.ncbi.nlm.nih.gov/pubmed/17160906
Xrefs

MESH:C537689

OMIM:610688

Synonyms

JBTS6 [EXACT]

Parent Relationships

is_a Joubert syndrome

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