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 hallux (HP:0001844)

Grandparent Node:
Broad toe (HP:0001837)

Parent Node:
Broad hallux (HP:0010055)

..Starting node
..Broad distal hallux (HP:0008111)

Term ID:

8111

Name:

Broad distal hallux

Synonym:

Broad distal big toe

Definition:

Comments:

Reference:

HP:0008111

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:0008111	HP:0008111	Broad distal hallux	0	FGFR2 CL E G H	2263	3689	OMIM:101200	Apert syndrome	.	175

Genes (1) :FGFR2

Diseases (1) :OMIM:101200

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