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:
Abnormality of the phalanges of the toes (HP:0010161)

Parent Node:
Abnormality of the middle phalanges of the toes (HP:0010183)

..Starting node
..Duplication of middle phalanx of toe (HP:0010202)

Term ID:

10202

Name:

Duplication of middle phalanx of toe

Synonym:

Partial/complete duplication of the middle bones of the toes; Partial/complete duplication of the middle phalanges of the toes

Definition:

Partial or complete duplication of a middle phalanx of toe.

Comments:

Reference:

HP:0010202

Genes and Diseases:

Child Nodes:

........

Duplication of the proximal phalanx of the hallux (HP:0010093)

................... HP:0010094 Complete duplication of the proximal phalanx of the hallux
................... HP:0010095 Partial duplication of the proximal phalanx of the hallux

........

Duplication of the middle phalanx of the 3rd toe (HP:0100401)

................... HP:0100410 Complete duplication of the middle phalanx of the 3rd toe
................... HP:0100419 Partial duplication of the middle phalanx of the 3rd toe

........

Duplication of the middle phalanx of the 5th toe (HP:0100403)

................... HP:0100412 Complete duplication of the middle phalanx of the 5th toe
................... HP:0100421 Partial duplication of the middle phalanx of the 5th toe

Sister Nodes:

Abnormal morphology of the proximal phalanx of the hallux (HP:0010052)

Abnormality of the middle phalanx of the 2nd toe (HP:0010357)

Abnormality of the middle phalanx of the 3rd toe (HP:0010369)

Abnormality of the middle phalanx of the 4th toe (HP:0010381)

Abnormality of the middle phalanx of the 5th toe (HP:0010393)

Aplasia/Hypoplasia of the middle phalanges of the toes (HP:0010194)

Broad middle phalanges of the toes (HP:0010195)

Bullet-shaped middle toe phalanx (HP:0010196)

Curved middle toe phalanx (HP:0010197)

Osteolytic defects of the middle phalanges of the toes (HP:0010198)

Sclerosis of middle toe phalanx (HP:0100947)

Short middle phalanx of toe (HP:0003795)

Symphalangism affecting the middle phalanges of the toes (HP:0010200)

Triangular shaped middle phalanges of the toes (HP:0010201)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0010202	HP:0010202	Duplication of middle phalanx of toe	0	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1	31
HP:0010202	HP:0100403	Duplication of the middle phalanx of the 5th toe	1	CL E G H
HP:0010202	HP:0100401	Duplication of the middle phalanx of the 3rd toe	1	CL E G H
HP:0010202	HP:0010093	Duplication of the proximal phalanx of the hallux	1	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1	31
HP:0010202	HP:0010094	Complete duplication of the proximal phalanx of the hallux	2	CL E G H
HP:0010202	HP:0100419	Partial duplication of the middle phalanx of the 3rd toe	2	CL E G H
HP:0010202	HP:0100412	Complete duplication of the middle phalanx of the 5th toe	2	CL E G H
HP:0010202	HP:0100410	Complete duplication of the middle phalanx of the 3rd toe	2	CL E G H
HP:0010202	HP:0010095	Partial duplication of the proximal phalanx of the hallux	2	CL E G H
HP:0010202	HP:0100421	Partial duplication of the middle phalanx of the 5th toe	2	CL E G H

Genes (1) :RAB23

Diseases (1) :OMIM:201000

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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