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:
Hand polydactyly (HP:0001161)

Grandparent Node:
Mesoaxial polydactyly (HP:0100260)

Parent Node:
Abnormal 2nd finger morphology (HP:0004100)

Parent Node:
Mesoaxial hand polydactyly (HP:0006159)

..Starting node
..Polydactyly affecting the 2nd finger (HP:0009946)

Term ID:

9946

Name:

Polydactyly affecting the 2nd finger

Synonym:

Extra index finger

Definition:

Comments:

Reference:

HP:0009946

Genes and Diseases:

Child Nodes:

........

Duplication of phalanx of 2nd finger (HP:0009945)

................... HP:0009947 Duplication of the proximal phalanx of the 2nd finger
................... HP:0009948 Duplication of the distal phalanx of the 2nd finger
................... HP:0009949 Duplication of the middle phalanx of the 2nd finger
................... HP:0009956 Partial duplication of the phalanges of the 2nd finger
................... HP:0009957 Complete duplication of the phalanges of the 2nd finger

Sister Nodes:

Polydactyly affecting the 3rd finger (HP:0009958)

Polydactyly affecting the 4th finger (HP:0009971)

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:0009946	HP:0009946	Polydactyly affecting the 2nd finger	0	FGFR2 CL E G H	2263	3689	OMIM:101400	Saethre-Chotzen syndrome		175
HP:0009946	HP:0009946	Polydactyly affecting the 2nd finger	0	TWIST1 CL E G H	7291	12428	OMIM:101400	Saethre-Chotzen syndrome		18
HP:0009946	HP:0009945	Duplication of phalanx of 2nd finger	1	FGFR2 CL E G H	2263	3689	OMIM:101400	Saethre-Chotzen syndrome		175
HP:0009946	HP:0009945	Duplication of phalanx of 2nd finger	1	TWIST1 CL E G H	7291	12428	OMIM:101400	Saethre-Chotzen syndrome		18
HP:0009946	HP:0009949	Duplication of the middle phalanx of the 2nd finger	2	CL E G H
HP:0009946	HP:0009957	Complete duplication of the phalanges of the 2nd finger	2	CL E G H
HP:0009946	HP:0009947	Duplication of the proximal phalanx of the 2nd finger	2	CL E G H
HP:0009946	HP:0009948	Duplication of the distal phalanx of the 2nd finger	2	FGFR2 CL E G H	2263	3689	OMIM:101400	Saethre-Chotzen syndrome		175
HP:0009946	HP:0009956	Partial duplication of the phalanges of the 2nd finger	2	FGFR2 CL E G H	2263	3689	OMIM:101400	Saethre-Chotzen syndrome		175
HP:0009946	HP:0009948	Duplication of the distal phalanx of the 2nd finger	2	TWIST1 CL E G H	7291	12428	OMIM:101400	Saethre-Chotzen syndrome		18
HP:0009946	HP:0009956	Partial duplication of the phalanges of the 2nd finger	2	TWIST1 CL E G H	7291	12428	OMIM:101400	Saethre-Chotzen syndrome		18
HP:0009946	HP:0009950	Complete duplication of the distal phalanx of the 2nd finger	3	CL E G H
HP:0009946	HP:0009955	Partial duplication of the proximal phalanx of the 2nd finger	3	CL E G H
HP:0009946	HP:0009954	Complete duplication of the proximal phalanx of the 2nd finger	3	CL E G H
HP:0009946	HP:0009953	Partial duplication of the middle phalanx of the 2nd finger	3	CL E G H
HP:0009946	HP:0009952	Complete duplication of the middle phalanx of the 2nd finger	3	CL E G H
HP:0009946	HP:0009951	Partial duplication of the distal phalanx of the 2nd finger	3	FGFR2 CL E G H	2263	3689	OMIM:101400	Saethre-Chotzen syndrome	.	175
HP:0009946	HP:0009951	Partial duplication of the distal phalanx of the 2nd finger	3	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.

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