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 3rd finger morphology (HP:0004150)

Parent Node:
Mesoaxial hand polydactyly (HP:0006159)

..Starting node
..Polydactyly affecting the 3rd finger (HP:0009958)

Term ID:

9958

Name:

Polydactyly affecting the 3rd finger

Synonym:

Extra middle finger

Definition:

Comments:

Reference:

HP:0009958

Genes and Diseases:

Child Nodes:

........

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

................... HP:0009960 Complete duplication of the phalanges of the 3rd finger
................... HP:0009961 Partial duplication of the phalanges of the 3rd finger
................... HP:0009962 Duplication of the distal phalanx of the 3rd finger
................... HP:0009963 Duplication of the middle phalanx of the 3rd finger
................... HP:0009964 Duplication of the proximal phalanx of the 3rd finger

Sister Nodes:

Polydactyly affecting the 2nd finger (HP:0009946)

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:0009958	HP:0009958	Polydactyly affecting the 3rd finger	0	CHSY1 CL E G H	22856	17198	ORPHA:363417	Temtamy preaxial brachydactyly syndrome		16
HP:0009958	HP:0009958	Polydactyly affecting the 3rd finger	0	FGFR2 CL E G H	2263	3689	OMIM:101400	Saethre-Chotzen syndrome		175
HP:0009958	HP:0009958	Polydactyly affecting the 3rd finger	0	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome	HP:0040282 - Frequent	270
HP:0009958	HP:0009958	Polydactyly affecting the 3rd finger	0	TWIST1 CL E G H	7291	12428	OMIM:101400	Saethre-Chotzen syndrome		18
HP:0009958	HP:0009959	Duplication of phalanx of 3rd finger	1	CHSY1 CL E G H	22856	17198	ORPHA:363417	Temtamy preaxial brachydactyly syndrome		16
HP:0009958	HP:0009959	Duplication of phalanx of 3rd finger	1	FGFR2 CL E G H	2263	3689	OMIM:101400	Saethre-Chotzen syndrome		175
HP:0009958	HP:0009959	Duplication of phalanx of 3rd finger	1	TWIST1 CL E G H	7291	12428	OMIM:101400	Saethre-Chotzen syndrome		18
HP:0009958	HP:0009961	Partial duplication of the phalanges of the 3rd finger	2	CHSY1 CL E G H	22856	17198	ORPHA:363417	Temtamy preaxial brachydactyly syndrome		16
HP:0009958	HP:0009964	Duplication of the proximal phalanx of the 3rd finger	2	CHSY1 CL E G H	22856	17198	ORPHA:363417	Temtamy preaxial brachydactyly syndrome		16
HP:0009958	HP:0009960	Complete duplication of the phalanges of the 3rd finger	2	CHSY1 CL E G H	22856	17198	ORPHA:363417	Temtamy preaxial brachydactyly syndrome		16
HP:0009958	HP:0009963	Duplication of the middle phalanx of the 3rd finger	2	CHSY1 CL E G H	22856	17198	ORPHA:363417	Temtamy preaxial brachydactyly syndrome		16
HP:0009958	HP:0009962	Duplication of the distal phalanx of the 3rd finger	2	FGFR2 CL E G H	2263	3689	OMIM:101400	Saethre-Chotzen syndrome		175
HP:0009958	HP:0009961	Partial duplication of the phalanges of the 3rd finger	2	FGFR2 CL E G H	2263	3689	OMIM:101400	Saethre-Chotzen syndrome		175
HP:0009958	HP:0009962	Duplication of the distal phalanx of the 3rd finger	2	TWIST1 CL E G H	7291	12428	OMIM:101400	Saethre-Chotzen syndrome		18
HP:0009958	HP:0009961	Partial duplication of the phalanges of the 3rd finger	2	TWIST1 CL E G H	7291	12428	OMIM:101400	Saethre-Chotzen syndrome		18
HP:0009958	HP:0009969	Partial duplication of the middle phalanx of the 3rd finger	3	CL E G H
HP:0009958	HP:0009967	Complete duplication of the proximal phalanx of the 3rd finger	3	CL E G H
HP:0009958	HP:0009965	Complete duplication of the distal phalanx of the 3rd finger	3	CL E G H
HP:0009958	HP:0009970	Partial duplication of the proximal phalanx of the 3rd finger	3	CHSY1 CL E G H	22856	17198	ORPHA:363417	Temtamy preaxial brachydactyly syndrome	HP:0040282 - Frequent	16
HP:0009958	HP:0009966	Complete duplication of the middle phalanx of the 3rd finger	3	CHSY1 CL E G H	22856	17198	ORPHA:363417	Temtamy preaxial brachydactyly syndrome	HP:0040282 - Frequent	16
HP:0009958	HP:0009968	Partial duplication of the distal phalanx of the 3rd finger	3	FGFR2 CL E G H	2263	3689	OMIM:101400	Saethre-Chotzen syndrome	.	175
HP:0009958	HP:0009968	Partial duplication of the distal phalanx of the 3rd finger	3	TWIST1 CL E G H	7291	12428	OMIM:101400	Saethre-Chotzen syndrome	.	18

Genes (4) :CHSY1 FGFR2 GLI3 TWIST1

Diseases (3) :ORPHA:363417 OMIM:101400 ORPHA:672

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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