Joubert syndrome 22
Joubert syndrome that has material basis in homozygous mutation in the PDE6D gene on chromosome 2q37
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Joubert syndrome 22
Summary
Joubert syndrome 22 is a class of disease[1].
Key Facts
- Joubert syndrome 22's instance of is recorded as class of disease[2].
- Joubert syndrome 22's subclass of is recorded as Joubert syndrome[3].
- Joubert syndrome 22's subclass of is recorded as Joubert syndrome with orofaciodigital defect[4].
- Joubert syndrome 22's OMIM ID is recorded as 615665[5].
- Joubert syndrome 22's Disease Ontology ID is recorded as DOID:0110991[6].
- Joubert syndrome 22's genetic association is recorded as PDE6D[7].
- Joubert syndrome 22's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0110991[8].
- Joubert syndrome 22's exact match is recorded as http://identifiers.org/doid/DOID:0110991[9].
- Joubert syndrome 22's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_2754[10].
- Joubert syndrome 22's UMLS CUI is recorded as C3810278[11].
- Joubert syndrome 22's on focus list of Wikimedia project is recorded as WikiProject Medicine[12].
- Joubert syndrome 22's Mondo ID is recorded as MONDO_0014297[13].
- Joubert syndrome 22's UniProt disease ID is recorded as DI-04020[14].