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
..Jaw hyperreflexia (HP:0033683)

Term ID:

33683

Name:

Jaw hyperreflexia

Synonym:

Brisk jaw jerk

Definition:

Increased intensity of muscle tendon reflexes in jaw.

Comments:

Reference:

HP:0033683

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:0033683	HP:0033683	Jaw hyperreflexia	0	GCH1 CL E G H	2643	4193	OMIM:128230	Dystonia, DOPA-responsive, with or without hyperphenylalaninemia	86
HP:0033683	HP:0033683	Jaw hyperreflexia	0	NRCAM CL E G H	4897	7994	OMIM:619833		2

Genes (2) :GCH1 NRCAM

Diseases (2) :OMIM:128230 OMIM:619833

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