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Metadata
ID DOID:0110998
Name Joubert syndrome 3
Definition A Joubert syndrome that has_material_basis_in homozygous mutation in the AHI1 gene on chromosome 6q23.3.
https://www.ncbi.nlm.nih.gov/pubmed/15322546
Xrefs

MESH:C536295

OMIM:608629

Synonyms

JBTS3 [EXACT]

Parent Relationships

is_a Joubert syndrome

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