Joubert syndrome 15
Joubert syndrome characterized by ataxia, hypotonia, delayed psychomotor development, and variable mental retardation that has material basis in homozygous mutation in the CEP41 gene on chromosome 7q32
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Joubert syndrome 15
Summary
Joubert syndrome 15 is a class of disease[1].
Key Facts
- Joubert syndrome 15's instance of is recorded as class of disease[2].
- Joubert syndrome 15's subclass of is recorded as Joubert syndrome[3].
- Joubert syndrome 15's subclass of is recorded as Joubert syndrome with ocular defect[4].
- Joubert syndrome 15's OMIM ID is recorded as 614464[5].
- Joubert syndrome 15's Disease Ontology ID is recorded as DOID:0110984[6].
- Joubert syndrome 15's genetic association is recorded as CEP41[7].
- Joubert syndrome 15's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0110984[8].
- Joubert syndrome 15's exact match is recorded as http://identifiers.org/doid/DOID:0110984[9].
- Joubert syndrome 15's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_220493[10].
- Joubert syndrome 15's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_475[11].
- Joubert syndrome 15's UMLS CUI is recorded as C3280898[12].
- Joubert syndrome 15's UMLS CUI is recorded as C3280899[13].
- Joubert syndrome 15's UMLS CUI is recorded as C3280897[14].
- Joubert syndrome 15's on focus list of Wikimedia project is recorded as WikiProject Medicine[15].
- Joubert syndrome 15's Mondo ID is recorded as MONDO_0013763[16].
- Joubert syndrome 15's UniProt disease ID is recorded as DI-03314[17].