Joubert syndrome 17
Joubert syndrome characterized by episodic hyperpnea, abnormal eye movements, ataxia, and global psychomotor retardation that has material basis in compound heterozygous mutation in the C5ORF42 gene on chromosome 5p13
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Joubert syndrome 17
Summary
Joubert syndrome 17 is a class of disease[1].
Key Facts
- Joubert syndrome 17's instance of is recorded as class of disease[2].
- Joubert syndrome 17's subclass of is recorded as Joubert syndrome[3].
- Joubert syndrome 17's OMIM ID is recorded as 614615[4].
- Joubert syndrome 17's Disease Ontology ID is recorded as DOID:0110986[5].
- Joubert syndrome 17's NCI Thesaurus ID is recorded as C175702[6].
- Joubert syndrome 17's genetic association is recorded as CPLANE1[7].
- Joubert syndrome 17's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0110986[8].
- Joubert syndrome 17's exact match is recorded as http://identifiers.org/doid/DOID:0110986[9].
- Joubert syndrome 17's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_475[10].
- Joubert syndrome 17's UMLS CUI is recorded as C3553264[11].
- Joubert syndrome 17's on focus list of Wikimedia project is recorded as WikiProject Medicine[12].
- Joubert syndrome 17's Mondo ID is recorded as MONDO_0013824[13].
- Joubert syndrome 17's UniProt disease ID is recorded as DI-03439[14].