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 skeletal maturation (HP:0000927)

Parent Node:
Accelerated skeletal maturation (HP:0005616)

..Starting node
..Accelerated bone age after puberty (HP:0002805)

Term ID:

2805

Name:

Accelerated bone age after puberty

Synonym:

Accelerated bone age after puberty

Definition:

Comments:

Reference:

HP:0002805

Genes and Diseases:

Child Nodes:

Sister Nodes:

Dysharmonic accelerated bone age (HP:0200001)

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:0002805	HP:0002805	Accelerated bone age after puberty	0	TRPS1 CL E G H	7227	12340	OMIM:190350	Trichorhinophalangeal syndrome, type I	.	171
HP:0002805	HP:0002805	Accelerated bone age after puberty	0	TRPS1 CL E G H	7227	12340	OMIM:190351	Trichorhinophalangeal syndrome, type III	.	171

Genes (1) :TRPS1

Diseases (2) :OMIM:190350 OMIM:190351

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