Joubert syndrome 26
Joubert syndrome characterized by global developmental delay and cerebellar hypoplasia that has material basis in homozygous mutation in the KIAA0556 gene on chromosome 16p12
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Joubert syndrome 26
Summary
Joubert syndrome 26 is a class of disease[1].
Key Facts
- Joubert syndrome 26's instance of is recorded as class of disease[2].
- Joubert syndrome 26's subclass of is recorded as Joubert syndrome[3].
- Joubert syndrome 26's OMIM ID is recorded as 616784[4].
- Joubert syndrome 26's Disease Ontology ID is recorded as DOID:0110995[5].
- Joubert syndrome 26's genetic association is recorded as KATNIP[6].
- Joubert syndrome 26's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0110995[7].
- Joubert syndrome 26's exact match is recorded as http://identifiers.org/doid/DOID:0110995[8].
- Joubert syndrome 26's UMLS CUI is recorded as C4084843[9].
- Joubert syndrome 26's on focus list of Wikimedia project is recorded as WikiProject Medicine[10].
- Joubert syndrome 26's Mondo ID is recorded as MONDO_0014771[11].
- Joubert syndrome 26's UniProt disease ID is recorded as DI-04615[12].