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:
Delayed eruption of teeth (HP:0000684)

Parent Node:
Delayed eruption of permanent teeth (HP:0000696)

..Starting node
..No permanent dentition (HP:0008498)

Term ID:

8498

Name:

No permanent dentition

Synonym:

Absence of adult teeth; Absence of secondary dentition; Missing adult teeth; No adult dentition; No secondary dentition

Definition:

Comments:

Reference:

HP:0008498

Genes and Diseases:

Child Nodes:

Sister Nodes:

Marked delay in eruption of permanent teeth (HP:0006291)

Multiple non-erupting secondary teeth (HP:0006321)

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:0008498	HP:0008498	No permanent dentition	0	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare	1
HP:0008498	HP:0008498	No permanent dentition	0	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare	544
HP:0008498	HP:0008498	No permanent dentition	0	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare	60
HP:0008498	HP:0008498	No permanent dentition	0	TFAP2B CL E G H	7021	11743	ORPHA:46627	Char syndrome	HP:0040283 - Occasional	104

Genes (4) :APC2 NSD1 SETD2 TFAP2B

Diseases (2) :ORPHA:821 ORPHA:46627

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