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:
Abnormal morphology of phalanx of the 2nd toe (HP:0010324)

Grandparent Node:
Duplication of phalanx of toe (HP:0010181)

Parent Node:
Abnormality of the middle phalanx of the 2nd toe (HP:0010357)

Parent Node:
Duplication of the phalanges of the 2nd toe (HP:0010355)

..Starting node
..Duplication of the middle phalanx of the 2nd toe (HP:0010412)

Term ID:

10412

Name:

Duplication of the middle phalanx of the 2nd toe

Synonym:

Duplication of middle bone of 2nd toe; Partial/complete duplication of the middle phalanx of the 2nd toe

Definition:

Partial or complete duplication of middle phalanx of second toe.

Comments:

Reference:

HP:0010412

Genes and Diseases:

Child Nodes:

........

Complete duplication of the middle phalanx of the 2nd toe (HP:0010426)

........

Partial duplication of the middle phalanx of the 2nd toe (HP:0010427)

Sister Nodes:

Complete duplication of the phalanges of the 2nd toe (HP:0010429)

Duplication of the distal phalanx of the 2nd toe (HP:0010421)

Duplication of the proximal phalanx of the 2nd toe (HP:0010403)

Partial duplication of phalanx of the 2nd toe (HP:0010428)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0010412	HP:0010412	Duplication of the middle phalanx of the 2nd toe	0	CL E G H
HP:0010412	HP:0010427	Partial duplication of the middle phalanx of the 2nd toe	1	CL E G H
HP:0010412	HP:0010426	Complete duplication of the middle phalanx of the 2nd toe	1	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.