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
..Chvostek sign (HP:0031990)

Term ID:

31990

Name:

Chvostek sign

Synonym:

Definition:

A contraction of ipsilateral facial muscles subsequent to percussion over the facial nerve.

Comments:

Reference:

HP:0031990

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:0031990	HP:0031990	Chvostek sign	0	PTH CL E G H	5741	9606	OMIM:146200	Hypoparathyroidism, familial isolated	16

Genes (1) :PTH

Diseases (1) :OMIM:146200

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