WormBase Tree Display for DO_term: DOID:0110988
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DOID:0110988 | Name | Joubert syndrome 2 | |||
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Status | Valid | ||||
Definition | A 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. | ||||
Synonym | Exact | CORS2 | |||
JBTS2 | |||||
cerebellooculorenal syndrome 2 | |||||
Parent | Is_a | DOID:0050777 | |||
DB_info | Database | OMIM | disease | 608091 | |
Attribute_of | Gene_by_orthology | WBGene00194710 |