Joubert syndrome 13
Joubert syndrome that has material basis in homozygous or compound heterozygous mutation in the TCTN1 gene on chromosome 12q24
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Joubert syndrome 13
Summary
Joubert syndrome 13 is a class of disease[1].
Key Facts
- Joubert syndrome 13's instance of is recorded as class of disease[2].
- Joubert syndrome 13's subclass of is recorded as Joubert syndrome[3].
- Joubert syndrome 13's OMIM ID is recorded as 614173[4].
- Joubert syndrome 13's Disease Ontology ID is recorded as DOID:0110982[5].
- Joubert syndrome 13's genetic association is recorded as TCTN1[6].
- Joubert syndrome 13's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0110982[7].
- Joubert syndrome 13's exact match is recorded as http://identifiers.org/doid/DOID:0110982[8].
- Joubert syndrome 13's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_475[9].
- Joubert syndrome 13's UMLS CUI is recorded as C3280031[10].
- Joubert syndrome 13's on focus list of Wikimedia project is recorded as WikiProject Medicine[11].
- Joubert syndrome 13's Mondo ID is recorded as MONDO_0013608[12].
- Joubert syndrome 13's UniProt disease ID is recorded as DI-03232[13].