Joubert syndrome 18
Joubert syndrome that has material basis in homozygous mutation in the TCTN3 gene on chromosome 10q24
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Joubert syndrome 18
Summary
Joubert syndrome 18 is a class of disease[1].
Key Facts
- Joubert syndrome 18's instance of is recorded as class of disease[2].
- Joubert syndrome 18 is a type of Joubert syndrome[3].
- Joubert syndrome 18 is a type of Joubert syndrome with orofaciodigital defect[4].
- Joubert syndrome 18's genetic association is recorded as TCTN3[5].
- Joubert syndrome 18's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0110987[6].
- Joubert syndrome 18's exact match is recorded as http://identifiers.org/doid/DOID:0110987[7].
- Joubert syndrome 18's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_2754[8].
- Joubert syndrome 18's on focus list of Wikimedia project is recorded as WikiProject Medicine[9].