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 4th finger morphology (HP:0004188)

Parent Node:
Mesoaxial hand polydactyly (HP:0006159)

..Starting node
..Polydactyly affecting the 4th finger (HP:0009971)

Term ID:

9971

Name:

Polydactyly affecting the 4th finger

Synonym:

Extra ring finger

Definition:

Comments:

Reference:

HP:0009971

Genes and Diseases:

Child Nodes:

........

Duplication of phalanx of 4th finger (HP:0009972)

................... HP:0009973 Complete duplication of the phalanges of the 4th finger
................... HP:0009974 Partial duplication of the phalanges of the 4th finger
................... HP:0009975 Duplication of the distal phalanx of the 4th finger
................... HP:0009976 Duplication of the middle phalanx of the 4th finger
................... HP:0009977 Duplication of the proximal phalanx of the 4th finger

Sister Nodes:

Polydactyly affecting the 2nd finger (HP:0009946)

Polydactyly affecting the 3rd finger (HP:0009958)

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:0009971	HP:0009971	Polydactyly affecting the 4th finger	0	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome	HP:0040282 - Frequent	270
HP:0009971	HP:0009972	Duplication of phalanx of 4th finger	1	CL E G H
HP:0009971	HP:0009977	Duplication of the proximal phalanx of the 4th finger	2	CL E G H
HP:0009971	HP:0009976	Duplication of the middle phalanx of the 4th finger	2	CL E G H
HP:0009971	HP:0009975	Duplication of the distal phalanx of the 4th finger	2	CL E G H
HP:0009971	HP:0009974	Partial duplication of the phalanges of the 4th finger	2	CL E G H
HP:0009971	HP:0009973	Complete duplication of the phalanges of the 4th finger	2	CL E G H
HP:0009971	HP:0009983	Partial duplication of the proximal phalanx of the 4th finger	3	CL E G H
HP:0009971	HP:0009982	Partial duplication of the middle phalanx of the 4th finger	3	CL E G H
HP:0009971	HP:0009981	Partial duplication of the distal phalanx of the 4th finger	3	CL E G H
HP:0009971	HP:0009980	Complete duplication of the proximal phalanx of the 4th finger	3	CL E G H
HP:0009971	HP:0009979	Complete duplication of the middle phalanx of the 4th finger	3	CL E G H
HP:0009971	HP:0009978	Complete duplication of the distal phalanx of the 4th finger	3	CL E G H

Genes (1) :GLI3

Diseases (1) :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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