Joubert syndrome 28
Joubert syndrome that has material basis in homozygous or compound heterozygous mutation in the MKS1 gene on chromosome 17q23
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Joubert syndrome 28
Summary
Joubert syndrome 28 is a class of disease[1].
Key Facts
- Joubert syndrome 28's instance of is recorded as class of disease[2].
- Joubert syndrome 28's subclass of is recorded as Joubert syndrome[3].
- Joubert syndrome 28's subclass of is recorded as Joubert syndrome with ocular defect[4].
- Joubert syndrome 28's OMIM ID is recorded as 617121[5].
- Joubert syndrome 28's Disease Ontology ID is recorded as DOID:0110997[6].
- Joubert syndrome 28's genetic association is recorded as MKS1[7].
- Joubert syndrome 28's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0110997[8].
- Joubert syndrome 28's exact match is recorded as http://identifiers.org/doid/DOID:0110997[9].
- Joubert syndrome 28's UMLS CUI is recorded as C4310705[10].
- Joubert syndrome 28's on focus list of Wikimedia project is recorded as WikiProject Medicine[11].
- Joubert syndrome 28's Mondo ID is recorded as MONDO_0014928[12].
- Joubert syndrome 28's UniProt disease ID is recorded as DI-04820[13].