Human Gene Set: HP_CHILBLAINS


Standard name HP_CHILBLAINS
Systematic name M37400
Brief description Chilblains
Full description or abstract Chilblains, also called perniosis, are an inflammatory skin condition related to an abnormal vascular response to the cold. We are unaware of a reliable estimate of incidence. It typically presents as tender, pruritic red or bluish lesions located symmetrically on the dorsal aspect of the fingers, toes, ears and nose. Less commonly, reports describe involvement of the thighs and buttocks. The lesions present hours after exposure to cold and usually resolve spontaneously in one to three weeks. [https://orcid.org/0000-0002-0736-9199, PMID:1832531, PMID:22025653]
Collection C5: Ontology
      HPO: Human Phenotype Ontology
Source publication  
Exact source HP:0009710
Related gene sets  
External links https://hpo.jax.org/app/browse/term/HP:0009710
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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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