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:
Tooth malposition (HP:0000692)

Parent Node:
Open bite (HP:0010807)

..Starting node
..Frontal open bite (HP:0200094)

Term ID:

200094

Name:

Frontal open bite

Synonym:

Definition:

Comments:

Reference:

HP:0200094

Genes and Diseases:

Child Nodes:

Sister Nodes:

obsolete Anterior open bite (HP:0200095)

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:0200094	HP:0200094	Frontal open bite	0	ADAMTS2 CL E G H	9509	218	OMIM:225410	Ehlers-Danlos syndrome, type VII, autosomal recessive	.	165

Genes (1) :ADAMTS2

Diseases (1) :OMIM:225410

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