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:
Constitutional symptom (HP:0025142)

Parent Node:
Chills (HP:0025143)

Parent Node:
Shivering (HP:0025144)

..Starting node
..Rigors (HP:0025145)

Term ID:

25145

Name:

Rigors

Synonym:

Rigours

Definition:

Severe chills with violent shivering. A rigor is an episode of shaking or exaggerated shivering which can occur with a high fever.

Comments:

Reference:

HP:0025145

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0025145	HP:0025145	Rigors	0	HADHA CL E G H	3030	4801	ORPHA:746	Mitochondrial trifunctional protein deficiency	HP:0040284 - Very rare	99
HP:0025145	HP:0025145	Rigors	0	HADHB CL E G H	3032	4803	ORPHA:746	Mitochondrial trifunctional protein deficiency	HP:0040284 - Very rare	60

Genes (2) :HADHA HADHB

Diseases (1) :ORPHA:746

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