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 dental enamel morphology (HP:0000682)

Parent Node:
Enamel hypomineralization (HP:0006285)

..Starting node
..Hypomature dental enamel (HP:0011085)

Term ID:

11085

Name:

Hypomature dental enamel

Synonym:

Immature tooth enamel; Soft teeth; Soft tooth enamel

Definition:

A form of hypomineralization of enamel characterized by a chalky appearance of the enamel with orange, brown, or white color.

Comments:

Reference:

HP:0011085

Genes and Diseases:

Child Nodes:

Sister Nodes:

Hypocalcification of dental enamel (HP:0011084)

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:0011085	HP:0011085	Hypomature dental enamel	0	WDR72 CL E G H	256764	26790	OMIM:613211	Amelogenesis imperfecta, hypomaturation type, iia3	.	137

Genes (1) :WDR72

Diseases (1) :OMIM:613211

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