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Joubert syndrome and related disorders
Disease Summary
Associated Targets (40)
Tbio
37
Tdark
2
Tclin
1
Mondo Description Joubert syndrome (JS) and related disorders (JSRD) are a group of developmental delay/multiple congenital anomaly syndromes in which the mandatory feature is the "molar tooth sign'' (MTS), a complex midbrain-hindbrain malformation recognizable on brain imaging. The MTS is characterized by cerebellar vermis hypodysplasia, thickening and malorientation of the superior cerebellar peduncles and abnormally deep interpeduncular fossa.
Mondo Term and Equivalent IDs
MONDO:0015369: Joubert syndrome and related disorders
Download Data for Joubert syndrome and related disorders
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Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
Orphanet:140874
UMLS:CN199461
MONDO:0015369
High level summary of knowledge for a disease, including descriptions and datasource references.