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:
Abnormal dentin morphology (HP:0010299)

Grandparent Node:
Abnormal odontoid tissue morphology (HP:3000050)

Parent Node:
Dentinogenesis imperfecta (HP:0000703)

..Starting node
..Dentinogenesis imperfecta limited to primary teeth (HP:0011060)

Term ID:

11060

Name:

Dentinogenesis imperfecta limited to primary teeth

Synonym:

Dentinogenesis imperfecta of baby teeth

Definition:

Developmental dysplasia of dentin affecting only the primary dentition.

Comments:

Reference:

HP:0011060

Genes and Diseases:

Child Nodes:

Sister Nodes:

Dentinogenesis imperfecta of primary and permanent teeth (HP:0011086)

Odontodysplasia (HP:0000694)

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:0011060	HP:0011060	Dentinogenesis imperfecta limited to primary teeth	0	DSPP CL E G H	1834	3054	OMIM:125420	Dentin dysplasia, type II	.	38

Genes (1) :DSPP

Diseases (1) :OMIM:125420

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