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:
Deviation of toes (HP:0100498)

..Starting node
..Tibial deviation of toes (HP:0100499)

Term ID:

100499

Name:

Tibial deviation of toes

Synonym:

Medial deviation of toes

Definition:

Comments:

Reference:

HP:0100499

Genes and Diseases:

Child Nodes:

Sister Nodes:

Deviation of the 2nd toe (HP:0010326)

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)

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:0100499	HP:0100499	Tibial deviation of toes	0	EIF4A3 CL E G H	9775	18683	OMIM:268305	Robin sequence with cleft mandible and limb anomalies	.	4

Genes (1) :EIF4A3

Diseases (1) :OMIM:268305

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