basal laminar drusen

retinal drusen characterized by yellow-white deposits (drusen) that accumulate beneath the retinal pigment epithelium on Bruch membrane and that has material basis in mutations in the CFH gene on chromosome 1q31.3

Wikidata entity: Q28065549

P2888 exact match Url Ontology Lookup Service (OLS) ???
P2888 exact match Url Disease Ontology - Institute for Genome Sciences @ University of Maryland ???
P2293 genetic association ... Q14911975 (CFH) CFH
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 ... Q1140528 (drusen) drusen
P279 subclass of ... Q1225194 (monogenic disease) monogenic disease
External Ids
P699Disease Ontology IDDOID:0060746
P4229ICD-10-CMH35.5
P665KEGG IDH02108
P486MeSH descriptor IDC563034
P5270Mondo IDMONDO_0007472
P492OMIM ID126700
P492OMIM ID126700
P1550Orphanet ID75376
P2892UMLS CUIC0730295
P11430UniProt disease IDDI-02606

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