cataract 45

cataract that has material basis in homozygous mutation in the SIPA1L3 gene on chromosome 19q13

Wikidata entity: Q27429764



P2888 exact match Url Ontology Lookup Service (OLS) ???
P2888 exact match Url Disease Ontology - Institute for Genome Sciences @ University of Maryland ???
P2293 genetic association ... Q18036719 (SIPA1L3) SIPA1L3
P1995 health specialty ... Q1071953 (medical genetics) medical genetics
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 ... Q127724 (cataract) cataract
P279 subclass of ... Q10267817 (autosomal recessive disease) autosomal recessive disease

External Ids
P699Disease Ontology IDDOID:0110262
P4229ICD-10-CMQ12.0
P5270Mondo IDMONDO_0014799
P492OMIM ID616851
P492OMIM ID616851
P2892UMLS CUIC4225182
P11430UniProt disease IDDI-04671

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