Joubert syndrome 8
Joubert syndrome that has material basis in mutation in the ARL13B gene on chromosome 3q11.1-q11.2
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Joubert syndrome 8
Summary
Joubert syndrome 8 is a class of disease[1].
Key Facts
- Joubert syndrome 8's instance of is recorded as class of disease[2].
- Joubert syndrome 8's subclass of is recorded as Joubert syndrome[3].
- Joubert syndrome 8's MeSH descriptor ID is recorded as C567358[4].
- Joubert syndrome 8's OMIM ID is recorded as 612291[5].
- Joubert syndrome 8's Disease Ontology ID is recorded as DOID:0111003[6].
- Joubert syndrome 8's genetic association is recorded as ARL13B[7].
- Joubert syndrome 8's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0111003[8].
- Joubert syndrome 8's exact match is recorded as http://identifiers.org/doid/DOID:0111003[9].
- Joubert syndrome 8's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_475[10].
- Joubert syndrome 8's UMLS CUI is recorded as C2676771[11].
- Joubert syndrome 8's on focus list of Wikimedia project is recorded as WikiProject Medicine[12].
- Joubert syndrome 8's Mondo ID is recorded as MONDO_0012855[13].
- Joubert syndrome 8's UniProt disease ID is recorded as DI-00611[14].