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

..Starting node
..Inappropriate absence of fever (HP:0033104)

Term ID:

33104

Name:

Inappropriate absence of fever

Synonym:

Definition:

Failure to develop fever in the presence of an infection that normally would be expected to elicit a febrile response.

Comments:

Reference:

HP:0033104

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0033104	HP:0033104	Inappropriate absence of fever	0	IL6R CL E G H	3570	6019	OMIM:618944	HYPER-IgE RECURRENT INFECTION SYNDROME 5, AUTOSOMAL RECESSIVE; HIES5	1

Genes (1) :IL6R

Diseases (1) :OMIM:618944

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