Human Gene Set: HP_CARDIAC_AMYLOIDOSIS


Standard name HP_CARDIAC_AMYLOIDOSIS
Systematic name M50006
Brief description Cardiac amyloidosis
Full description or abstract Extracellular deposition in cardiac tissue of a proteinaceous material that, when stained with Congo red, demonstrates apple-green birefringence under polarized light and that has a distinct color when stained with sulfated Alcian blue. Viewed with electron microscopy, the amyloid deposits are seen to be composed of a beta-sheet fibrillar material. These nonbranching fibrils have a diameter of 7.5 to 10 nm and are the result of protein misfolding. [https://orcid.org/0000-0002-0736-9199, PMID:16186440]
Collection C5: Ontology
      HPO: Human Phenotype Ontology
Source publication  
Exact source HP:0030843
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External links https://hpo.jax.org/app/browse/term/HP:0030843
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Source species Homo sapiens
Contributed by Human Phenotype Ontology Group (The Jackson Laboratory (JAX))
Source platform or
identifier namespace		 Human_NCBI_Gene_ID
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Version history 2026.1.Hs: Updated to HPO Release 2026-01-08.


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