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 dental morphology (HP:0006482)

Parent Node:
Microdontia (HP:0000691)

..Starting node
..Generalized microdontia (HP:0006311)

Term ID:

6311

Name:

Generalized microdontia

Synonym:

Decreased size of all teeth; Decreased tooth mass; Decreased width of all teeth; Generalised microdontia; Hypotrophy of all teeth; Tooth mass insufficiency

Definition:

A generalized form of microdontia.

Comments:

Reference:

HP:0006311

Genes and Diseases:

Child Nodes:

Sister Nodes:

Maxillary lateral incisor microdontia (HP:0001593)

Microdontia of primary teeth (HP:0006347)

Small, conical teeth (HP:0200141)

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:0006311	HP:0006311	Generalized microdontia	0	LAMB3 CL E G H	3914	6490	OMIM:104530	Amelogenesis imperfecta, type IA	.	167

Genes (1) :LAMB3

Diseases (1) :OMIM:104530

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

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