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:
Duplication of phalanx of hand (HP:0009997)

Parent Node:
Duplication of the proximal phalanx of hand (HP:0010006)

Parent Node:
Partial duplication of the phalanx of hand (HP:0009999)

..Starting node
..Partial duplication of the proximal phalanges of the hand (HP:0010003)

Term ID:

10003

Name:

Partial duplication of the proximal phalanges of the hand

Synonym:

Partial duplication of the innermost bones of the hand

Definition:

A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the proximal phalanges of the hand. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones.

Comments:

Reference:

HP:0010003

Genes and Diseases:

Child Nodes:

........

Bifid first metacarpal (HP:0009616)

........

Partial duplication of the proximal phalanx of the 2nd finger (HP:0009955)

........

Partial duplication of the proximal phalanx of the 3rd finger (HP:0009970)

........

Partial duplication of the proximal phalanx of the 4th finger (HP:0009983)

........

Partial duplication of the proximal phalanx of the 5th finger (HP:0009996)

Sister Nodes:

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

Partial duplication of the middle phalanges of the hand (HP:0010005)

Partial duplication of the phalanges of the 2nd finger (HP:0009956)

Partial duplication of the phalanges of the 3rd finger (HP:0009961)

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

Partial duplication of the phalanges of the 5th finger (HP:0009987)

Partial duplication of thumb phalanx (HP:0009944)

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:0010003	HP:0010003	Partial duplication of the proximal phalanges of the hand	0	CHSY1 CL E G H	22856	17198	ORPHA:363417	Temtamy preaxial brachydactyly syndrome		16
HP:0010003	HP:0010003	Partial duplication of the proximal phalanges of the hand	0	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I		15
HP:0010003	HP:0009996	Partial duplication of the proximal phalanx of the 5th finger	1	CL E G H
HP:0010003	HP:0009983	Partial duplication of the proximal phalanx of the 4th finger	1	CL E G H
HP:0010003	HP:0009955	Partial duplication of the proximal phalanx of the 2nd finger	1	CL E G H
HP:0010003	HP:0009970	Partial duplication of the proximal phalanx of the 3rd finger	1	CHSY1 CL E G H	22856	17198	ORPHA:363417	Temtamy preaxial brachydactyly syndrome	HP:0040282 - Frequent	16
HP:0010003	HP:0009616	Bifid first metacarpal	1	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I		15

Genes (2) :CHSY1 RNU4ATAC

Diseases (2) :ORPHA:363417 OMIM:210710

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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