Human Phenotype Ontology 
Grandparent Node:
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Abnormal digit morphology (HP:0011297)help
Grandparent Node:
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Abnormality of the hand (HP:0001155)help
Parent Node:
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Abnormality of finger (HP:0001167)help
..Starting node
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Chilblains (HP:0009710)help
Term ID: 9710
Name: Chilblains
Synonym: Chilblain lesions
Definition: 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.
Comments:
Reference: HP:0009710
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormal 2nd finger morphology (HP:0004100) help
..expandAbnormal 3rd finger morphology (HP:0004150) help
..expandAbnormal 4th finger morphology (HP:0004188) help
..expandAbnormal 5th finger morphology (HP:0004207) help
..expandAbnormal finger flexion creases (HP:0006143) help
..expandAbnormal finger phalanx morphology (HP:0005918) help
..expandAbnormal fingertip morphology (HP:0001211) help
..expandAbnormal thumb morphology (HP:0001172) help
..expandAplasia/Hypoplasia of fingers (HP:0006265) help
..expandBroad finger (HP:0001500) help
..expandCurved fingers (HP:0004095) help
..expandDeviation of finger (HP:0004097) help
..expandFinger dactylitis (HP:0031090) help
..expandFinger joint hypermobility (HP:0006094) help
..expandFinger swelling (HP:0025131) help
..expandLong fingers (HP:0100807) help
..expandMacrodactyly of finger (HP:0100746) help
..expandMallet finger (HP:0030771) help
..expandSlender finger (HP:0001238) help
..expandSpindle-shaped finger (HP:0031092) help
..expandSplayed fingers (HP:0030029) help
..expandSwan neck-like deformities of the fingers (HP:0006150) help
..expandTrident hand (HP:0004060) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0009710HP:0009710Chilblains0ADAR CL E G H10351ORPHA1229316225146920
HP:0009710HP:0009710Chilblains0IFIH1 CL E G H6413551ORPHA12828618873606951
HP:0009710HP:0009710Chilblains0RNASEH2A CL E G H1053551ORPHA12113318518606034
HP:0009710HP:0009710Chilblains0RNASEH2B CL E G H7962151ORPHA14214925671610326
HP:0009710HP:0009710Chilblains0RNASEH2C CL E G H8415351ORPHA11511224116610330
HP:0009710HP:0009710Chilblains0SAMHD1 CL E G H2593951ORPHA15720015925606754
HP:0009710HP:0009710Chilblains0SAMHD1 CL E G H25939612952Aicardi Goutieres syndrome 5612952C2749659OMIM15720015925606754
HP:0009710HP:0009710Chilblains0TREX1 CL E G H1127751ORPHA17115312269606609
HP:0009710HP:0009710Chilblains0TREX1 CL E G H11277225750Aicardi Goutieres syndrome 1225750C0796126OMIM17115312269606609
 
HPO disease - gene - phenotype less frequent non-typical associations:


Genes (7) :ADAR IFIH1 RNASEH2A RNASEH2B RNASEH2C SAMHD1 TREX1

Diseases (3) :51 612952 225750
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is June 2019 release.