Joubert syndrome 27
Joubert syndrome that has material basis in homozygous or compound heterozygous mutation in the B9D1 gene on chromosome 17p11
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Joubert syndrome 27
Summary
Joubert syndrome 27 is a class of disease[1].
Key Facts
- Joubert syndrome 27's instance of is recorded as class of disease[2].
- Joubert syndrome 27's subclass of is recorded as Joubert syndrome[3].
- Joubert syndrome 27's OMIM ID is recorded as 617120[4].
- Joubert syndrome 27's Disease Ontology ID is recorded as DOID:0110996[5].
- Joubert syndrome 27's genetic association is recorded as B9D1[6].
- Joubert syndrome 27's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0110996[7].
- Joubert syndrome 27's exact match is recorded as http://identifiers.org/doid/DOID:0110996[8].
- Joubert syndrome 27's UMLS CUI is recorded as C4310706[9].
- Joubert syndrome 27's on focus list of Wikimedia project is recorded as WikiProject Medicine[10].
- Joubert syndrome 27's Mondo ID is recorded as MONDO_0014927[11].
- Joubert syndrome 27's UniProt disease ID is recorded as DI-04819[12].