Joubert syndrome 21
Joubert syndrome that has material basis in homozygous or compound heterozygous mutation in the CSPP1 gene on chromosome 8q13
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Joubert syndrome 21
Summary
Joubert syndrome 21 is a class of disease[1].
Key Facts
- Joubert syndrome 21's instance of is recorded as class of disease[2].
- Joubert syndrome 21's subclass of is recorded as Joubert syndrome[3].
- Joubert syndrome 21's subclass of is recorded as Joubert syndrome with Jeune asphyxiating thoracic dystrophy[4].
- Joubert syndrome 21's OMIM ID is recorded as 615636[5].
- Joubert syndrome 21's Disease Ontology ID is recorded as DOID:0110990[6].
- Joubert syndrome 21's genetic association is recorded as CSPP1[7].
- Joubert syndrome 21's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0110990[8].
- Joubert syndrome 21's exact match is recorded as http://identifiers.org/doid/DOID:0110990[9].
- Joubert syndrome 21's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_397715[10].
- Joubert syndrome 21's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_475[11].
- Joubert syndrome 21's UMLS CUI is recorded as C3810212[12].
- Joubert syndrome 21's on focus list of Wikimedia project is recorded as WikiProject Medicine[13].
- Joubert syndrome 21's Mondo ID is recorded as MONDO_0014288[14].
- Joubert syndrome 21's UniProt disease ID is recorded as DI-04019[15].