Joubert syndrome 24
Joubert syndrome characterized by delayed psychomotor development and molar tooth sign on brain MRI that has material basis in homozygous mutation in the TCTN2 gene on chromosome 12q24
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Joubert syndrome 24
Summary
Joubert syndrome 24 is a class of disease[1].
Key Facts
- Joubert syndrome 24's instance of is recorded as class of disease[2].
- Joubert syndrome 24's subclass of is recorded as Joubert syndrome[3].
- Joubert syndrome 24's OMIM ID is recorded as 616654[4].
- Joubert syndrome 24's Disease Ontology ID is recorded as DOID:0110993[5].
- Joubert syndrome 24's genetic association is recorded as TCTN2[6].
- Joubert syndrome 24's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0110993[7].
- Joubert syndrome 24's exact match is recorded as http://identifiers.org/doid/DOID:0110993[8].
- Joubert syndrome 24's UMLS CUI is recorded as C4084841[9].
- Joubert syndrome 24's on focus list of Wikimedia project is recorded as WikiProject Medicine[10].
- Joubert syndrome 24's Mondo ID is recorded as MONDO_0014724[11].
- Joubert syndrome 24's UniProt disease ID is recorded as DI-04579[12].