Joubert syndrome 6

Joubert syndrome that has material basis in homozygous or compound heterozygous mutation in the TMEM67 on chromosome 8q22

Wikidata entity: Q32145884

P2888 exact match Url Ontology Lookup Service (OLS) ???
P2888 exact match Url Ontology Lookup Service (OLS) ???
P2888 exact match Url Disease Ontology - Institute for Genome Sciences @ University of Maryland ???
P2293 genetic association ... Q18048458 (TMEM67) TMEM67
P31 instance of ... Q112193867 (class of disease) class of disease
P5008 on focus list of Wikimedia project ... Q4099686 (WikiProject Medicine) WikiProject Medicine
P279 subclass of ... Q1101694 (Joubert syndrome) Joubert syndrome
External Ids
P699Disease Ontology IDDOID:0111001
P486MeSH descriptor IDC537689
P5270Mondo IDMONDO_0012539
P492OMIM ID610688
P492OMIM ID610688
P2892UMLS CUIC1853153
P11430UniProt disease IDDI-00609

Why not click here or view trends?

log id: 8674372