Joubert syndrome 5
Joubert syndrome that has material basis in mutation in the CEP290 gene on chromosome 12q21
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Joubert syndrome 5
Summary
Joubert syndrome 5 is a rare disease[1].
Key Facts
- Joubert syndrome 5's instance of is recorded as rare disease[2].
- Joubert syndrome 5's instance of is recorded as class of disease[3].
- Joubert syndrome 5's subclass of is recorded as Joubert syndrome[4].
- Joubert syndrome 5's subclass of is recorded as Joubert syndrome with oculorenal defect[5].
- Joubert syndrome 5's MeSH descriptor ID is recorded as C537688[6].
- Joubert syndrome 5's OMIM ID is recorded as 610188[7].
- Joubert syndrome 5's Disease Ontology ID is recorded as DOID:0111000[8].
- Joubert syndrome 5's genetic association is recorded as CEP290[9].
- Joubert syndrome 5's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0111000[10].
- Joubert syndrome 5's exact match is recorded as http://identifiers.org/doid/DOID:0111000[11].
- Joubert syndrome 5's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_2318[12].
- Joubert syndrome 5's UMLS CUI is recorded as C1857780[13].
- Joubert syndrome 5's on focus list of Wikimedia project is recorded as WikiProject Medicine[14].
- Joubert syndrome 5's Mondo ID is recorded as MONDO_0012432[15].
- Joubert syndrome 5's UniProt disease ID is recorded as DI-00608[16].