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:
Phenotypic variability (HP:0003812)

Parent Node:
Typified by incomplete penetrance (HP:0003829)

..Starting node
..Typified by age-related penetrance (HP:0003831)

Term ID:

3831

Name:

Typified by age-related penetrance

Synonym:

Age dependent penetrance; Age-dependent penetrance

Definition:

Description of conditions in which age of onset is typically later in life and in which penetrance is dependent on the age of the subject.

Comments:

Reference:

HP:0003831

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0003831	HP:0003831	Typified by age-related penetrance	0	DCHS1 CL E G H	8642	13681	OMIM:607829	Mitral valve prolapse, myxomatous 2	.	27
HP:0003831	HP:0003831	Typified by age-related penetrance	0	DZIP1 CL E G H	22873	20908	OMIM:610840	MITRAL VALVE PROLAPSE 3; MVP3
HP:0003831	HP:0003831	Typified by age-related penetrance	0	GUCY2D CL E G H	3000	4689	OMIM:601777	Cone-Rod dystrophy 6	.	124
HP:0003831	HP:0003831	Typified by age-related penetrance	0	TENM4 CL E G H	26011	29945	OMIM:616736	Tremor, hereditary essential, 5	.	5

Genes (4) :DCHS1 DZIP1 GUCY2D TENM4

Diseases (4) :OMIM:607829 OMIM:610840 OMIM:601777 OMIM:616736

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