autosomal dominant non-syndromic intellectual disability 11

autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of EPB41L1 on chromosome 20q11.23

Wikidata entity: Q50349615

P2888 exact match Url Ontology Lookup Service (OLS) ???
P2888 exact match Url Disease Ontology - Institute for Genome Sciences @ University of Maryland ???
P2293 genetic association ... Q20970080 (EPB41L1) EPB41L1
P31 instance of ... Q929833 (rare disease) rare disease
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 ... Q19587382 (autosomal dominant non-syndromic intellectual disability) autosomal dominant non-syndromic intellectual disability
External Ids
P699Disease Ontology IDDOID:0070041
P5270Mondo IDMONDO_0013658
P492OMIM ID614257
P492OMIM ID614257
P2892UMLS CUIC3280285
P11430UniProt disease IDDI-03254

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