Joubert syndrome 10
Joubert syndrome that has material basis in X-linked recessive inheritance of mutation in the OFD1 gene on chromosome Xp22.2
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Joubert syndrome 10
Summary
Joubert syndrome 10 is a class of disease[1].
Key Facts
- Joubert syndrome 10's instance of is recorded as class of disease[2].
- Joubert syndrome 10's subclass of is recorded as Joubert syndrome[3].
- Joubert syndrome 10's subclass of is recorded as Joubert syndrome with orofaciodigital defect[4].
- Joubert syndrome 10's subclass of is recorded as X-linked recessive disease[5].
- Joubert syndrome 10's MeSH descriptor ID is recorded as C567582[6].
- Joubert syndrome 10's OMIM ID is recorded as 300804[7].
- Joubert syndrome 10's Disease Ontology ID is recorded as DOID:0110981[8].
- Joubert syndrome 10's genetic association is recorded as OFD1[9].
- Joubert syndrome 10's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0110981[10].
- Joubert syndrome 10's exact match is recorded as http://identifiers.org/doid/DOID:0110981[11].
- Joubert syndrome 10's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_2754[12].
- Joubert syndrome 10's UMLS CUI is recorded as C2749019[13].
- Joubert syndrome 10's on focus list of Wikimedia project is recorded as WikiProject Medicine[14].
- Joubert syndrome 10's Mondo ID is recorded as MONDO_0010431[15].
- Joubert syndrome 10's UniProt disease ID is recorded as DI-02504[16].