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 distal phalanges of the toes (HP:0010182)

..Starting node
..Duplication of distal phalanx of toe (HP:0010193)

Term ID:

10193

Name:

Duplication of distal phalanx of toe

Synonym:

Duplication of outermost bone of toe; Partial/complete duplication of the distal phalanges of the toes

Definition:

A partial or complete duplication of one or more distal phalanx of toe.

Comments:

Reference:

HP:0010193

Genes and Diseases:

Child Nodes:

........

Duplication of the distal phalanx of the hallux (HP:0010084)

................... HP:0010096 Complete duplication of the distal phalanx of the hallux
................... HP:0010097 Partial duplication of the distal phalanx of the hallux

........

Duplication of the distal phalanx of the 2nd toe (HP:0010421)

................... HP:0010424 Complete duplication of the distal phalanx of the 2nd toe
................... HP:0010425 Partial duplication of the distal phalanx of the 2nd toe

Sister Nodes:

Abnormality of the distal phalanx of the 2nd toe (HP:0010356)

Abnormality of the distal phalanx of the 3rd toe (HP:0010368)

Abnormality of the distal phalanx of the 4th toe (HP:0010380)

Abnormality of the distal phalanx of the 5th toe (HP:0010392)

Abnormality of the distal phalanx of the hallux (HP:0010053)

Aplasia/Hypoplasia of the distal phalanges of the toes (HP:0010185)

Broad distal phalanx of the toes (HP:0010186)

Bullet-shaped distal toe phalanx (HP:0010187)

Curved distal toe phalanx (HP:0010188)

Osteolytic defects of the distal phalanges of the toes (HP:0010189)

Sclerosis of distal toe phalanx (HP:0100948)

Symphalangism affecting the distal phalanges of the toes (HP:0010191)

Triangular shaped distal phalanges of the toes (HP:0010192)

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:0010193	HP:0010193	Duplication of distal phalanx of toe	0	CANT1 CL E G H	124583	19721	OMIM:251450	Desbuquois dysplasia 1		85
HP:0010193	HP:0010421	Duplication of the distal phalanx of the 2nd toe	1	CL E G H
HP:0010193	HP:0010084	Duplication of the distal phalanx of the hallux	1	CANT1 CL E G H	124583	19721	OMIM:251450	Desbuquois dysplasia 1		85
HP:0010193	HP:0010425	Partial duplication of the distal phalanx of the 2nd toe	2	CL E G H
HP:0010193	HP:0010424	Complete duplication of the distal phalanx of the 2nd toe	2	CL E G H
HP:0010193	HP:0010096	Complete duplication of the distal phalanx of the hallux	2	CL E G H
HP:0010193	HP:0010097	Partial duplication of the distal phalanx of the hallux	2	CANT1 CL E G H	124583	19721	OMIM:251450	Desbuquois dysplasia 1	.	85

Genes (1) :CANT1

Diseases (1) :OMIM:251450

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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