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:
Duplication of phalanx of hallux (HP:0010066)

Parent Node:
Duplication of the distal phalanx of the hallux (HP:0010084)

Parent Node:
Partial duplication of the phalanges of the hallux (HP:0010101)

..Starting node
..Partial duplication of the distal phalanx of the hallux (HP:0010097)

Term ID:

10097

Name:

Partial duplication of the distal phalanx of the hallux

Synonym:

Bifid distal phalanx of hallux; Notched outermost bone of big toe; Partial duplication of the outermost bone of big toe

Definition:

Comments:

Reference:

HP:0010097

Genes and Diseases:

Child Nodes:

Sister Nodes:

Partial duplication of the 1st metatarsal (HP:0010099)

Partial duplication of the proximal phalanx of the hallux (HP:0010095)

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:0010097	HP:0010097	Partial duplication of the distal phalanx of the hallux	0	CANT1 CL E G H	124583	19721	OMIM:251450	Desbuquois dysplasia 1	.	85

Genes (1) :CANT1

Diseases (1) :OMIM:251450

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