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 2nd toe (HP:0010319)

Grandparent Node:
Deviation of toes (HP:0100498)

Parent Node:
Deviation of the 2nd toe (HP:0010326)

..Starting node
..Medially deviated second toe (HP:0008096)

Term ID:

8096

Name:

Medially deviated second toe

Synonym:

Definition:

Medial deviation of the second toe.

Comments:

Reference:

HP:0008096

Genes and Diseases:

Child Nodes:

Sister Nodes:

Clinodactyly of the 2nd toe (HP:0005824)

Fibular deviation of the 2nd toe (HP:0100344)

Tibial deviation of the 2nd toe (HP:0100345)

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:0008096	HP:0008096	Medially deviated second toe	0	BMP2 CL E G H	650	1069	OMIM:112600	Brachydactyly, type A2	.	13
HP:0008096	HP:0008096	Medially deviated second toe	0	BMPR1B CL E G H	658	1077	OMIM:112600	Brachydactyly, type A2	.	90
HP:0008096	HP:0008096	Medially deviated second toe	0	GDF5 CL E G H	8200	4220	OMIM:112600	Brachydactyly, type A2	.	52

Genes (3) :BMP2 BMPR1B GDF5

Diseases (1) :OMIM:112600

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