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)

Grandparent Node:
Abnormality of the incisor (HP:0000676)

Parent Node:
Abnormal incisor morphology (HP:0011063)

..Starting node
..Screwdriver-shaped incisors (HP:0006346)

Term ID:

6346

Name:

Screwdriver-shaped incisors

Synonym:

Screwdriver shaped front teeth; Screwdriver-shaped incisors

Definition:

An abnormality of morphology of the incisor tooth in which the tooth is shaped like a screwdriver blade, i.e., having a rhomboid shape.

Comments:

Reference:

HP:0006346

Genes and Diseases:

Child Nodes:

Sister Nodes:

Conical incisor (HP:0011065)

Dens in dente (HP:0011088)

Discolored lateral incisors (HP:0006290)

Incisor macrodontia (HP:0011081)

Maxillary lateral incisor microdontia (HP:0001593)

Notched primary central incisor (HP:0012413)

Shovel-shaped maxillary central incisors (HP:0006358)

Talon cusp (HP:0011087)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0006346	HP:0006346	Screwdriver-shaped incisors	0	NHS CL E G H	4810	7820	OMIM:302350	Nance-Horan syndrome	88

Genes (1) :NHS

Diseases (1) :OMIM:302350

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