Joubert syndrome 16
Joubert syndrome characterized by molar tooth sign on brain imaging, oculomotor apraxia, variable coloboma, and rare kidney involvement that has material basis in homozygous mutation in the TMEM138 gene on chromosome 11q
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Joubert syndrome 16
Summary
Joubert syndrome 16 is a rare disease[1].
Key Facts
- Joubert syndrome 16's instance of is recorded as rare disease[2].
- Joubert syndrome 16's instance of is recorded as class of disease[3].
- Joubert syndrome 16's subclass of is recorded as Joubert syndrome[4].
- Joubert syndrome 16's subclass of is recorded as Joubert syndrome with oculorenal defect[5].
- Joubert syndrome 16's OMIM ID is recorded as 614465[6].
- Joubert syndrome 16's Disease Ontology ID is recorded as DOID:0110985[7].
- Joubert syndrome 16's genetic association is recorded as TMEM138[8].
- Joubert syndrome 16's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0110985[9].
- Joubert syndrome 16's exact match is recorded as http://identifiers.org/doid/DOID:0110985[10].
- Joubert syndrome 16's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_2318[11].
- Joubert syndrome 16's UMLS CUI is recorded as C3280906[12].
- Joubert syndrome 16's on focus list of Wikimedia project is recorded as WikiProject Medicine[13].
- Joubert syndrome 16's Mondo ID is recorded as MONDO_0013764[14].
- Joubert syndrome 16's UniProt disease ID is recorded as DI-03315[15].