Joubert syndrome 1
Joubert syndrome that has material basis in homozygous mutation in the INPP5E gene on chromosome 9q34
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Joubert syndrome 1
Summary
Joubert syndrome 1 is a class of disease[1].
Key Facts
- Joubert syndrome 1's instance of is recorded as class of disease[2].
- Joubert syndrome 1's subclass of is recorded as Joubert syndrome[3].
- Joubert syndrome 1's OMIM ID is recorded as 213300[4].
- Joubert syndrome 1's Disease Ontology ID is recorded as DOID:0110980[5].
- Joubert syndrome 1's genetic association is recorded as INPP5E[6].
- Joubert syndrome 1's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0110980[7].
- Joubert syndrome 1's exact match is recorded as http://identifiers.org/doid/DOID:0110980[8].
- Joubert syndrome 1's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_475[9].
- Joubert syndrome 1's UMLS CUI is recorded as CN119531[10].
- Joubert syndrome 1's UMLS CUI is recorded as C0431399[11].
- Joubert syndrome 1's on focus list of Wikimedia project is recorded as WikiProject Medicine[12].
- Joubert syndrome 1's Mondo ID is recorded as MONDO_0008944[13].
- Joubert syndrome 1's UniProt disease ID is recorded as DI-02532[14].