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 distal phalanx morphology of finger (HP:0009832)

Grandparent Node:
Duplication of phalanx of hand (HP:0009997)

Parent Node:
Abnormality of the distal phalanx of the 3rd finger (HP:0009357)

Parent Node:
Duplication of phalanx of 3rd finger (HP:0009959)

Parent Node:
Duplication of the distal phalanx of hand (HP:0009883)

..Starting node
..Duplication of the distal phalanx of the 3rd finger (HP:0009962)

Term ID:

9962

Name:

Duplication of the distal phalanx of the 3rd finger

Synonym:

Partial/complete duplication of the distal phalanx of the 3rd finger; Partial/complete duplication of the outermost bone of the middle finger

Definition:

Partial or complete duplication of the distal phalanx of middle finger.

Comments:

Reference:

HP:0009962

Genes and Diseases:

Child Nodes:

........

Complete duplication of the distal phalanx of the 3rd finger (HP:0009965)

........

Partial duplication of the distal phalanx of the 3rd finger (HP:0009968)

Sister Nodes:

Complete duplication of the distal phalanges of the hand (HP:0010001)

Duplication of the distal phalanx of the 2nd finger (HP:0009948)

Duplication of the distal phalanx of the 4th finger (HP:0009975)

Duplication of the distal phalanx of the 5th finger (HP:0009988)

Duplication of the distal phalanx of the thumb (HP:0009612)

Partial duplication of the distal phalanges of the hand (HP:0010004)

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:0009962	HP:0009962	Duplication of the distal phalanx of the 3rd finger	0	FGFR2 CL E G H	2263	3689	OMIM:101400	Saethre-Chotzen syndrome		175
HP:0009962	HP:0009962	Duplication of the distal phalanx of the 3rd finger	0	TWIST1 CL E G H	7291	12428	OMIM:101400	Saethre-Chotzen syndrome		18
HP:0009962	HP:0009965	Complete duplication of the distal phalanx of the 3rd finger	1	CL E G H
HP:0009962	HP:0009968	Partial duplication of the distal phalanx of the 3rd finger	1	FGFR2 CL E G H	2263	3689	OMIM:101400	Saethre-Chotzen syndrome	.	175
HP:0009962	HP:0009968	Partial duplication of the distal phalanx of the 3rd finger	1	TWIST1 CL E G H	7291	12428	OMIM:101400	Saethre-Chotzen syndrome	.	18

Genes (2) :FGFR2 TWIST1

Diseases (1) :OMIM:101400

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