Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormal digit morphology (HP:0011297)

Grandparent Node:
Abnormality of the hand (HP:0001155)

Parent Node:
Abnormality of finger (HP:0001167)

..Starting node
..Chilblains (HP:0009710)

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:

Abnormal 2nd finger morphology (HP:0004100)

Abnormal 3rd finger morphology (HP:0004150)

Abnormal 4th finger morphology (HP:0004188)

Abnormal 5th finger morphology (HP:0004207)

Abnormal finger flexion creases (HP:0006143)

Abnormal finger phalanx morphology (HP:0005918)

Abnormal fingertip morphology (HP:0001211)

Abnormal thumb morphology (HP:0001172)

Aplasia/Hypoplasia of fingers (HP:0006265)

Broad finger (HP:0001500)

Curved fingers (HP:0004095)

Deviation of finger (HP:0004097)

Finger dactylitis (HP:0031090)

Finger joint hypermobility (HP:0006094)

Finger swelling (HP:0025131)

Long fingers (HP:0100807)

Macrodactyly of finger (HP:0100746)

Mallet finger (HP:0030771)

Slender finger (HP:0001238)

Spindle-shaped finger (HP:0031092)

Splayed fingers (HP:0030029)

Swan neck-like deformities of the fingers (HP:0006150)

Trident hand (HP:0004060)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0009710	HP:0009710	Chilblains	0	ADAR CL E G H	103	225	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent	116
HP:0009710	HP:0009710	Chilblains	0	ADAR CL E G H	103	225	OMIM:615010	Aicardi-Goutieres syndrome 6		116
HP:0009710	HP:0009710	Chilblains	0	DNASE2 CL E G H	1777	2960	OMIM:619858
HP:0009710	HP:0009710	Chilblains	0	IFIH1 CL E G H	64135	18873	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent	28
HP:0009710	HP:0009710	Chilblains	0	IFIH1 CL E G H	64135	18873	OMIM:615846	Aicardi-Goutieres syndrome 7		28
HP:0009710	HP:0009710	Chilblains	0	LSM11 CL E G H	134353	30860	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent
HP:0009710	HP:0009710	Chilblains	0	RNASEH2A CL E G H	10535	18518	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent	33
HP:0009710	HP:0009710	Chilblains	0	RNASEH2B CL E G H	79621	25671	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent	34
HP:0009710	HP:0009710	Chilblains	0	RNASEH2C CL E G H	84153	24116	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent	60
HP:0009710	HP:0009710	Chilblains	0	RNASEH2C CL E G H	84153	24116	OMIM:610329	Aicardi-Goutieres syndrome 3	.	60
HP:0009710	HP:0009710	Chilblains	0	RNU7-1 CL E G H	100147744	34033	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent
HP:0009710	HP:0009710	Chilblains	0	RNU7-1 CL E G H	100147744	34033	OMIM:619487	AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0009710	HP:0009710	Chilblains	0	SAMHD1 CL E G H	25939	15925	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent	55
HP:0009710	HP:0009710	Chilblains	0	SAMHD1 CL E G H	25939	15925	OMIM:612952	Aicardi-Goutieres syndrome 5	.	55
HP:0009710	HP:0009710	Chilblains	0	TREX1 CL E G H	11277	12269	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent	56
HP:0009710	HP:0009710	Chilblains	0	TREX1 CL E G H	11277	12269	OMIM:225750	Aicardi-Goutieres syndrome 1		56
HP:0009710	HP:0009710	Chilblains	0	TREX1 CL E G H	11277	12269	OMIM:610448	Chilblain lupus 1		56

Genes (10) :ADAR DNASE2 IFIH1 LSM11 RNASEH2A RNASEH2B RNASEH2C RNU7-1 SAMHD1 TREX1

Diseases (9) :ORPHA:51 OMIM:615010 OMIM:619858 OMIM:615846 OMIM:610329 OMIM:619487 OMIM:612952 OMIM:225750 OMIM:610448

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

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