autosomal dominant non-syndromic intellectual disability 21

autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of CTCF on chromosome 16q22.1

Wikidata entity: Q50349625

P2888 exact match Url Ontology Lookup Service (OLS) ???
P2888 exact match Url Disease Ontology - Institute for Genome Sciences @ University of Maryland ???
P2888 exact match Url Ontology Lookup Service (OLS) ???
P2293 genetic association ... Q21163346 (CTCF) CTCF
P31 instance of ... Q929833 (rare disease) rare disease
P31 instance of ... Q55788864 (developmental defect during embryogenesis) developmental defect during embryogenesis
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
P279 subclass of ... Q55785288 (multiple congenital anomalies/dysmorphic syndrome-intellectual disability) multiple congenital anomalies/dysmorphic syndrome-intellectual disability
P279 subclass of ... Q55785866 (genetic syndromic intellectual disability) genetic syndromic intellectual disability
External Ids
P699Disease Ontology IDDOID:0070051
P4229ICD-10-CMQ87.8
P5270Mondo IDMONDO_0014213
P492OMIM ID615502
P492OMIM ID615502
P1550Orphanet ID363611
P2892UMLS CUIC3809686
P2892UMLS CUIC5680985
P11430UniProt disease IDDI-03927

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