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:
Abnormality of the dentition (HP:0000164)

Parent Node:
Tooth malposition (HP:0000692)

..Starting node
..Irregularly spaced teeth (HP:0006316)

Term ID:

6316

Name:

Irregularly spaced teeth

Synonym:

Irregular dental spacing; Irregularly spaced teeth; Variability of dental spacing; Variability of spacing between teeth

Definition:

Irregular distribution of the teeth along the dental arch, i.e., and irregular spatial pattern of teeth.

Comments:

Reference:

HP:0006316

Genes and Diseases:

Child Nodes:

Sister Nodes:

Dental crowding (HP:0000678)

Dental malocclusion (HP:0000689)

Diastema (HP:0000699)

Increased overbite (HP:0011094)

Misalignment of incisors (HP:0011062)

Open bite (HP:0010807)

Overjet (HP:0011095)

Widely spaced teeth (HP:0000687)

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:0006316	HP:0006316	Irregularly spaced teeth	0	COL5A1 CL E G H	1289	2209	OMIM:130000	Ehlers-danlos syndrome, type I	.	660

Genes (1) :COL5A1

Diseases (1) :OMIM:130000

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