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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GTEx compendium
Human tissue compendium (Novartis)
Global Cancer Map (Broad Institute)
NCI-60 cell lines (National Cancer Institute)
Advanced query
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these 11 genes
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11 genes by gene family
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(show 11 source identifiers mapped to 11 genes)
Source Id
NCBI (Entrez) Gene Id
Gene Symbol
Gene Description
100147744
100147744
RNU7-1
RNA, U7 small nuclear 1 [Source:HGNC...
103
103
ADAR
adenosine deaminase RNA specific [So...
10535
10535
RNASEH2A
ribonuclease H2 subunit A [Source:HG...
11277
11277
TREX1
three prime repair exonuclease 1 [So...
134353
134353
LSM11
LSM11, U7 small nuclear RNA associat...
1777
1777
DNASE2
deoxyribonuclease 2, lysosomal [Sour...
25939
25939
SAMHD1
SAM and HD domain containing deoxynu...
64135
64135
IFIH1
interferon induced with helicase C d...
713
713
C1QB
complement C1q B chain [Source:HGNC ...
79621
79621
RNASEH2B
ribonuclease H2 subunit B [Source:HG...
84153
84153
RNASEH2C
ribonuclease H2 subunit C [Source:HG...
Version history
2024.1.Hs: Updated to HPO Release 2024-04-26.
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