autosomal dominant non-syndromic intellectual disability 9

autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of KIF1A on chromosome 2q37.3

Wikidata entity: Q50349613

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 ... Q17835924 (KIF1A) KIF1A
P31 instance of ... Q112193867 (class of disease) class of disease
P31 instance of ... Q929833 (rare disease) rare disease
P1748 NCI Thesaurus ID String C133742 ???
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:0070039
P5270Mondo IDMONDO_0013656
P492OMIM ID614255
P492OMIM ID614255
P2892UMLS CUIC3280283
P11430UniProt disease IDDI-03252

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