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 4th finger morphology (HP:0004188)

Grandparent Node:
Mesoaxial hand polydactyly (HP:0006159)

Parent Node:
Abnormal 4th finger phalanx morphology (HP:0009172)

Parent Node:
Polydactyly affecting the 4th finger (HP:0009971)

..Starting node
..Duplication of phalanx of 4th finger (HP:0009972)

Term ID:

9972

Name:

Duplication of phalanx of 4th finger

Synonym:

Duplication of bones of the ring finger; Partial/complete duplication of phalanges of the 4th finger

Definition:

This term applies if one or more of the phalanges of the 4th finger are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated.

Comments:

Reference:

HP:0009972

Genes and Diseases:

Child Nodes:

........

Complete duplication of the phalanges of the 4th finger (HP:0009973)

................... HP:0009978 Complete duplication of the distal phalanx of the 4th finger
................... HP:0009979 Complete duplication of the middle phalanx of the 4th finger
................... HP:0009980 Complete duplication of the proximal phalanx of the 4th finger

........

Partial duplication of the phalanges of the 4th finger (HP:0009974)

................... HP:0009981 Partial duplication of the distal phalanx of the 4th finger
................... HP:0009982 Partial duplication of the middle phalanx of the 4th finger
................... HP:0009983 Partial duplication of the proximal phalanx of the 4th finger

........

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

................... HP:0009978 Complete duplication of the distal phalanx of the 4th finger
................... HP:0009981 Partial duplication of the distal phalanx of the 4th finger

........

Duplication of the middle phalanx of the 4th finger (HP:0009976)

................... HP:0009979 Complete duplication of the middle phalanx of the 4th finger
................... HP:0009982 Partial duplication of the middle phalanx of the 4th finger

........

Duplication of the proximal phalanx of the 4th finger (HP:0009977)

................... HP:0009980 Complete duplication of the proximal phalanx of the 4th finger
................... HP:0009983 Partial duplication of the proximal phalanx of the 4th finger

Sister Nodes:

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0009972	HP:0009972	Duplication of phalanx of 4th finger	0	CL E G H
HP:0009972	HP:0009977	Duplication of the proximal phalanx of the 4th finger	1	CL E G H
HP:0009972	HP:0009976	Duplication of the middle phalanx of the 4th finger	1	CL E G H
HP:0009972	HP:0009975	Duplication of the distal phalanx of the 4th finger	1	CL E G H
HP:0009972	HP:0009974	Partial duplication of the phalanges of the 4th finger	1	CL E G H
HP:0009972	HP:0009973	Complete duplication of the phalanges of the 4th finger	1	CL E G H
HP:0009972	HP:0009983	Partial duplication of the proximal phalanx of the 4th finger	2	CL E G H
HP:0009972	HP:0009982	Partial duplication of the middle phalanx of the 4th finger	2	CL E G H
HP:0009972	HP:0009981	Partial duplication of the distal phalanx of the 4th finger	2	CL E G H
HP:0009972	HP:0009980	Complete duplication of the proximal phalanx of the 4th finger	2	CL E G H
HP:0009972	HP:0009979	Complete duplication of the middle phalanx of the 4th finger	2	CL E G H
HP:0009972	HP:0009978	Complete duplication of the distal phalanx of the 4th finger	2	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.

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