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 1st metatarsal (HP:0010075)

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

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

Term ID:

10099

Name:

Partial duplication of the 1st metatarsal

Synonym:

Partial duplication of the 1st long bone of foot

Definition:

A developmental defect consisting in the duplication of part of the first metatarsal bone.

Comments:

Reference:

HP:0010099

Genes and Diseases:

Child Nodes:

Sister Nodes:

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

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

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0010099	HP:0010099	Partial duplication of the 1st metatarsal	0	CL E G H

Genes (0) :

Diseases (0) :

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