Joubert syndrome 20
Joubert syndrome that has material basis in compound heterozygous mutation in the TMEM231 gene on chromosome 16q23
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Joubert syndrome 20
Summary
Joubert syndrome 20 is a class of disease[1].
Key Facts
- Joubert syndrome 20's instance of is recorded as class of disease[2].
- Joubert syndrome 20's subclass of is recorded as Joubert syndrome[3].
- Joubert syndrome 20's subclass of is recorded as Joubert syndrome with ocular defect[4].
- Joubert syndrome 20's OMIM ID is recorded as 614970[5].
- Joubert syndrome 20's Disease Ontology ID is recorded as DOID:0110989[6].
- Joubert syndrome 20's genetic association is recorded as TMEM231[7].
- Joubert syndrome 20's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0110989[8].
- Joubert syndrome 20's exact match is recorded as http://identifiers.org/doid/DOID:0110989[9].
- Joubert syndrome 20's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_220493[10].
- Joubert syndrome 20's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_475[11].
- Joubert syndrome 20's UMLS CUI is recorded as C3554235[12].
- Joubert syndrome 20's on focus list of Wikimedia project is recorded as WikiProject Medicine[13].
- Joubert syndrome 20's Mondo ID is recorded as MONDO_0013994[14].
- Joubert syndrome 20's UniProt disease ID is recorded as DI-03599[15].