Joubert syndrome 9
Joubert syndrome that has material basis in homozygous or compound heterozygous mutation in the CC2D2A gene on chromosome 4p15
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Joubert syndrome 9
Summary
Joubert syndrome 9 is a rare disease[1].
Key Facts
- Joubert syndrome 9's instance of is recorded as rare disease[2].
- Joubert syndrome 9's instance of is recorded as class of disease[3].
- Joubert syndrome 9's subclass of is recorded as Joubert syndrome[4].
- Joubert syndrome 9's subclass of is recorded as Joubert syndrome with oculorenal defect[5].
- Joubert syndrome 9's MeSH descriptor ID is recorded as C567364[6].
- Joubert syndrome 9's OMIM ID is recorded as 612285[7].
- Joubert syndrome 9's Disease Ontology ID is recorded as DOID:0111004[8].
- Joubert syndrome 9's NCI Thesaurus ID is recorded as C181002[9].
- Joubert syndrome 9's genetic association is recorded as CC2D2A[10].
- Joubert syndrome 9's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0111004[11].
- Joubert syndrome 9's exact match is recorded as http://identifiers.org/doid/DOID:0111004[12].
- Joubert syndrome 9's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_2318[13].
- Joubert syndrome 9's UMLS CUI is recorded as C2676788[14].
- Joubert syndrome 9's on focus list of Wikimedia project is recorded as WikiProject Medicine[15].
- Joubert syndrome 9's Mondo ID is recorded as MONDO_0012849[16].
- Joubert syndrome 9's UniProt disease ID is recorded as DI-00612[17].