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:
Premature loss of teeth (HP:0006480)

..Starting node
..Premature loss of permanent teeth (HP:0006357)

Term ID:

6357

Name:

Premature loss of permanent teeth

Synonym:

Early loss of adult teeth; Early loss of permanent teeth; Early loss of secondary dentition; Premature loss of adult teeth; Premature loss of secondary teeth

Definition:

Premature loss of the permanent teeth.

Comments:

Reference:

HP:0006357

Genes and Diseases:

Child Nodes:

Sister Nodes:

Premature loss of primary teeth (HP:0006323)

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:0006357	HP:0006357	Premature loss of permanent teeth	0	ALPL CL E G H	249	438	OMIM:146300	Hypophosphatasia, adult	.	126
HP:0006357	HP:0006357	Premature loss of permanent teeth	0	CAT CL E G H	847	1516	ORPHA:926	Acatalasemia	HP:0040284 - Very rare	5
HP:0006357	HP:0006357	Premature loss of permanent teeth	0	ELANE CL E G H	1991	3309	ORPHA:2686	Cyclic neutropenia	HP:0040283 - Occasional	79
HP:0006357	HP:0006357	Premature loss of permanent teeth	0	ITGB4 CL E G H	3691	6158	OMIM:619816	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5A, INTERMEDIATE; JEB5A		124
HP:0006357	HP:0006357	Premature loss of permanent teeth	0	LRP4 CL E G H	4038	6696	OMIM:212780	Cenani-Lenz syndactyly syndrome		124
HP:0006357	HP:0006357	Premature loss of permanent teeth	0	RSPO1 CL E G H	284654	21679	OMIM:610644	Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,xx sex reversal	.	3
HP:0006357	HP:0006357	Premature loss of permanent teeth	0	TP63 CL E G H	8626	15979	OMIM:103285	Adult syndrome	.	140

Genes (7) :ALPL CAT ELANE ITGB4 LRP4 RSPO1 TP63

Diseases (7) :OMIM:146300 ORPHA:926 ORPHA:2686 OMIM:619816 OMIM:212780 OMIM:610644 OMIM:103285

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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