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WormBase Tree Display for DO_term: DOID:0110988

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Name Class

DOID:0110988NameJoubert syndrome 2
StatusValid
DefinitionA Joubert syndrome characterized by molar tooth sign on brain MRI, hypotonia, developmental delay, oculomotor apraxia, and breathing abnormalities that has_material_basis_in mutation in the TMEM216 gene on chromosome 11q12.2.
SynonymExactCORS2
JBTS2
cerebellooculorenal syndrome 2
ParentIs_aDOID:0050777
DB_infoDatabaseOMIMdisease608091
Attribute_ofGene_by_orthologyWBGene00194710