WormBase Tree Display for DO_term: DOID:0110992
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| DOID:0110992 | Name | Joubert syndrome 23 | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| Definition | A Joubert syndrome characterized by delayed development, abnormal eye movements, and abnormal breathing pattern, and molar tooth sign on brain MRI that has_material_basis_in homozygous or compound heterozygous mutation in the KIAA0586 gene on chromosome 14q23. | ||||
| Synonym | Exact | JBTS23 | |||
| Parent | Is_a | DOID:0050777 | |||
| DB_info | Database | OMIM | disease | 616490 |
