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:
Urticaria (HP:0001025)

Parent Node:
Physical urticaria (HP:0410134)

..Starting node
..Cold urticaria (HP:0410135)

Term ID:

410135

Name:

Cold urticaria

Synonym:

Definition:

Urticaria may be caused by cold temperatures.

Comments:

Reference:

HP:0410135

Genes and Diseases:

Child Nodes:

Sister Nodes:

Aquagenic urticaria (HP:0410136)

Solar urticaria (HP:0410137)

Vibratory urticaria (HP:0410138)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0410135	HP:0410135	Cold urticaria	0	CARMIL2 CL E G H	146206	27089	OMIM:618131	IMMUNODEFICIENCY 58; IMD58	3
HP:0410135	HP:0410135	Cold urticaria	0	PLCG2 CL E G H	5336	9066	OMIM:614468	FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3; FCAS3	21

Genes (2) :CARMIL2 PLCG2

Diseases (2) :OMIM:618131 OMIM:614468

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