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 fibula morphology (HP:0002991)

Parent Node:
Fibular overgrowth (HP:0003099)

..Starting node
..Proximal fibular overgrowth (HP:0005067)

Term ID:

5067

Name:

Proximal fibular overgrowth

Synonym:

Overgrowth of innermost part of calf bone

Definition:

Overgrowth of the proximal part of the fibula.

Comments:

Reference:

HP:0005067

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:0005067	HP:0005067	Proximal fibular overgrowth	0	CANT1 CL E G H	124583	19721	OMIM:251450	Desbuquois dysplasia 1	.	85

Genes (1) :CANT1

Diseases (1) :OMIM:251450

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