Joubert syndrome 6
Joubert syndrome that has material basis in homozygous or compound heterozygous mutation in the TMEM67 on chromosome 8q22
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Joubert syndrome 6
Summary
Joubert syndrome 6 is a class of disease[1].
Key Facts
- Joubert syndrome 6's instance of is recorded as class of disease[2].
- Joubert syndrome 6's subclass of is recorded as Joubert syndrome[3].
- Joubert syndrome 6's MeSH descriptor ID is recorded as C537689[4].
- Joubert syndrome 6's OMIM ID is recorded as 610688[5].
- Joubert syndrome 6's Disease Ontology ID is recorded as DOID:0111001[6].
- Joubert syndrome 6's genetic association is recorded as TMEM67[7].
- Joubert syndrome 6's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0111001[8].
- Joubert syndrome 6's exact match is recorded as http://identifiers.org/doid/DOID:0111001[9].
- Joubert syndrome 6's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_475[10].
- Joubert syndrome 6's UMLS CUI is recorded as C1853153[11].
- Joubert syndrome 6's on focus list of Wikimedia project is recorded as WikiProject Medicine[12].
- Joubert syndrome 6's Mondo ID is recorded as MONDO_0012539[13].
- Joubert syndrome 6's UniProt disease ID is recorded as DI-00609[14].