Joubert syndrome 3
Joubert syndrome that has material basis in homozygous mutation in the AHI1 gene on chromosome 6q23.3
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Joubert syndrome 3
Summary
Joubert syndrome 3 is a rare disease[1].
Key Facts
- Joubert syndrome 3's instance of is recorded as rare disease[2].
- Joubert syndrome 3's instance of is recorded as class of disease[3].
- Joubert syndrome 3's subclass of is recorded as Joubert syndrome[4].
- Joubert syndrome 3's subclass of is recorded as Joubert syndrome with ocular defect[5].
- Joubert syndrome 3's MeSH descriptor ID is recorded as C536295[6].
- Joubert syndrome 3's OMIM ID is recorded as 608629[7].
- Joubert syndrome 3's Disease Ontology ID is recorded as DOID:0110998[8].
- Joubert syndrome 3's NCI Thesaurus ID is recorded as C148259[9].
- Joubert syndrome 3's genetic association is recorded as AHI1[10].
- Joubert syndrome 3's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0110998[11].
- Joubert syndrome 3's exact match is recorded as http://identifiers.org/doid/DOID:0110998[12].
- Joubert syndrome 3's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_220493[13].
- Joubert syndrome 3's UMLS CUI is recorded as C1837713[14].
- Joubert syndrome 3's on focus list of Wikimedia project is recorded as WikiProject Medicine[15].
- Joubert syndrome 3's Mondo ID is recorded as MONDO_0012078[16].
- Joubert syndrome 3's UniProt disease ID is recorded as DI-00606[17].