Human Gene Set: HP_SEA_BLUE_HISTIOCYTOSIS


Standard name HP_SEA_BLUE_HISTIOCYTOSIS
Systematic name M35564
Brief description Sea-blue histiocytosis
Full description or abstract An abnormality of histiocytes, in which the cells take on a sea blue appearance due to abnormally increased lipid content. Histiocytes are a type of macrophage. Sea-blue histiocytes are typically large macrophages from 20 to 60 micrometers in diameter with a single eccentric nucleus whose cytoplasm if packed with sea-blue or blue-green granules when stained with Wright-Giemsa. [https://orcid.org/0000-0002-0736-9199, PMID:8797061]
Collection C5: Ontology
      HPO: Human Phenotype Ontology
Source publication  
Exact source HP:0001982
Related gene sets  
External links https://hpo.jax.org/app/browse/term/HP:0001982
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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
Dataset references  
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Version history 2024.1.Hs: Updated to HPO Release 2024-04-26.

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