Joubert syndrome 7
Joubert syndrome that has material basis in mutation in the RPGRIP1L gene on chromosome 16q12.2
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Joubert syndrome 7
Summary
Joubert syndrome 7 is a class of disease[1].
Key Facts
- Joubert syndrome 7's instance of is recorded as class of disease[2].
- Joubert syndrome 7's subclass of is recorded as Joubert syndrome[3].
- Joubert syndrome 7's MeSH descriptor ID is recorded as C566916[4].
- Joubert syndrome 7's OMIM ID is recorded as 611560[5].
- Joubert syndrome 7's Disease Ontology ID is recorded as DOID:0111002[6].
- Joubert syndrome 7's NCI Thesaurus ID is recorded as C159653[7].
- Joubert syndrome 7's genetic association is recorded as RPGRIP1L[8].
- Joubert syndrome 7's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0111002[9].
- Joubert syndrome 7's exact match is recorded as http://identifiers.org/doid/DOID:0111002[10].
- Joubert syndrome 7's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_220497[11].
- Joubert syndrome 7's UMLS CUI is recorded as C1969053[12].
- Joubert syndrome 7's on focus list of Wikimedia project is recorded as WikiProject Medicine[13].
- Joubert syndrome 7's Mondo ID is recorded as MONDO_0012694[14].
- Joubert syndrome 7's UniProt disease ID is recorded as DI-00610[15].