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 5th toe (HP:0010322)

Grandparent Node:
Deviation of toes (HP:0100498)

Parent Node:
Deviation of the 5th toe (HP:0010344)

..Starting node
..Tibial deviation of the 5th toe (HP:0100347)

Term ID:

100347

Name:

Tibial deviation of the 5th toe

Synonym:

Definition:

Comments:

Reference:

HP:0100347

Genes and Diseases:

Child Nodes:

Sister Nodes:

Clinodactyly of the 5th toe (HP:0001864)

Fibular deviation of the 5th toe (HP:0100346)

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:0100347	HP:0100347	Tibial deviation of the 5th toe	0	CHSY1 CL E G H	22856	17198	ORPHA:363417	Temtamy preaxial brachydactyly syndrome	HP:0040283 - Occasional	16

Genes (1) :CHSY1

Diseases (1) :ORPHA:363417

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