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 toe (HP:0001780)

Parent Node:
Abnormality of the 2nd toe (HP:0010319)

Parent Node:
Deviation of toes (HP:0100498)

..Starting node
..Deviation of the 2nd toe (HP:0010326)

Term ID:

10326

Name:

Deviation of the 2nd toe

Synonym:

Displacement of the 2nd toe

Definition:

Comments:

Reference:

HP:0010326

Genes and Diseases:

Child Nodes:

........

Clinodactyly of the 2nd toe (HP:0005824)

........

Medially deviated second toe (HP:0008096)

........

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

........

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

Sister Nodes:

Deviation of the 3rd toe (HP:0010332)

Deviation of the 4th toe (HP:0010338)

Deviation of the 5th toe (HP:0010344)

Deviation of the hallux (HP:0010051)

Fibular deviation of toes (HP:0100500)

Tibial deviation of toes (HP:0100499)

Toe clinodactyly (HP:0001863)

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:0010326	HP:0010326	Deviation of the 2nd toe	0	BMP2 CL E G H	650	1069	OMIM:112600	Brachydactyly, type A2		13
HP:0010326	HP:0010326	Deviation of the 2nd toe	0	BMPR1B CL E G H	658	1077	OMIM:112600	Brachydactyly, type A2		90
HP:0010326	HP:0010326	Deviation of the 2nd toe	0	CHSY1 CL E G H	22856	17198	ORPHA:363417	Temtamy preaxial brachydactyly syndrome		16
HP:0010326	HP:0010326	Deviation of the 2nd toe	0	GDF5 CL E G H	8200	4220	OMIM:112600	Brachydactyly, type A2		52
HP:0010326	HP:0010326	Deviation of the 2nd toe	0	HNRNPR CL E G H	10236	5047	OMIM:620073
HP:0010326	HP:0100344	Fibular deviation of the 2nd toe	1	CL E G H
HP:0010326	HP:0008096	Medially deviated second toe	1	BMP2 CL E G H	650	1069	OMIM:112600	Brachydactyly, type A2	.	13
HP:0010326	HP:0008096	Medially deviated second toe	1	BMPR1B CL E G H	658	1077	OMIM:112600	Brachydactyly, type A2	.	90
HP:0010326	HP:0100345	Tibial deviation of the 2nd toe	1	CHSY1 CL E G H	22856	17198	ORPHA:363417	Temtamy preaxial brachydactyly syndrome	HP:0040283 - Occasional	16
HP:0010326	HP:0008096	Medially deviated second toe	1	GDF5 CL E G H	8200	4220	OMIM:112600	Brachydactyly, type A2	.	52
HP:0010326	HP:0005824	Clinodactyly of the 2nd toe	1	HNRNPR CL E G H	10236	5047	OMIM:620073

Genes (5) :BMP2 BMPR1B CHSY1 GDF5 HNRNPR

Diseases (3) :OMIM:112600 ORPHA:363417 OMIM:620073

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