Joubert syndrome 2
Joubert syndrome characterized by molar tooth sign on brain MRI, hypotonia, developmental delay, oculomotor apraxia, and breathing abnormalities that has material basis in mutation in the TMEM216 gene on chromosome 11q12.2
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Joubert syndrome 2
Summary
Joubert syndrome 2 is a rare disease[1].
Key Facts
- Joubert syndrome 2's instance of is recorded as rare disease[2].
- Joubert syndrome 2's instance of is recorded as class of disease[3].
- Joubert syndrome 2's subclass of is recorded as Joubert syndrome[4].
- Joubert syndrome 2's subclass of is recorded as Joubert syndrome with oculorenal defect[5].
- Joubert syndrome 2's MeSH descriptor ID is recorded as C536294[6].
- Joubert syndrome 2's OMIM ID is recorded as 608091[7].
- Joubert syndrome 2's Disease Ontology ID is recorded as DOID:0110988[8].
- Joubert syndrome 2's genetic association is recorded as TMEM216[9].
- Joubert syndrome 2's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0110988[10].
- Joubert syndrome 2's exact match is recorded as http://identifiers.org/doid/DOID:0110988[11].
- Joubert syndrome 2's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_2318[12].
- Joubert syndrome 2's UMLS CUI is recorded as C1842577[13].
- Joubert syndrome 2's GARD rare disease ID is recorded as 10167[14].
- Joubert syndrome 2's on focus list of Wikimedia project is recorded as WikiProject Medicine[15].
- Joubert syndrome 2's Mondo ID is recorded as MONDO_0011963[16].
- Joubert syndrome 2's UniProt disease ID is recorded as DI-02621[17].