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)

Grandparent Node:
Sclerosis of foot bone (HP:0100925)

Parent Node:
Sclerosis of toe phalanx (HP:0100924)

..Starting node
..Sclerosis of 3rd toe phalanx (HP:0100927)

Term ID:

100927

Name:

Sclerosis of 3rd toe phalanx

Synonym:

Increased bone density in 3rd toe bone; Sclerosis of the phalanges of the 3rd toe

Definition:

An elevation in bone density in one or more phalanges of the third toe. Sclerosis is normally detected on a radiograph as an area of increased opacity.

Comments:

Reference:

HP:0100927

Genes and Diseases:

Child Nodes:

........

Patchy sclerosis of 3rd toe phalanx (HP:0010364)

................... HP:0100461 Patchy sclerosis of the middle phalanx of the 3rd toe
................... HP:0100464 Patchy sclerosis of the proximal phalanx of the 3rd toe
................... HP:0100467 Patchy sclerosis of the distal phalanx of the 3rd toe

........

Sclerosis of the proximal phalanx of the 3rd toe (HP:0100932)

................... HP:0100464 Patchy sclerosis of the proximal phalanx of the 3rd toe

........

Sclerosis of the middle phalanx of the 3rd toe (HP:0100936)

................... HP:0100461 Patchy sclerosis of the middle phalanx of the 3rd toe

........

Sclerosis of the distal phalanx of the 3rd toe (HP:0100940)

................... HP:0100467 Patchy sclerosis of the distal phalanx of the 3rd toe

Sister Nodes:

Patchy sclerosis of toe phalanx (HP:0010178)

Sclerosis of 2nd toe phalanx (HP:0100926)

Sclerosis of 4th toe phalanx (HP:0100928)

Sclerosis of 5th toe phalanx (HP:0100929)

Sclerosis of distal toe phalanx (HP:0100948)

Sclerosis of hallux phalanx (HP:0100930)

Sclerosis of middle toe phalanx (HP:0100947)

Sclerosis of proximal toe phalanx (HP:0100946)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0100927	HP:0100927	Sclerosis of 3rd toe phalanx	0	CL E G H
HP:0100927	HP:0010364	Patchy sclerosis of 3rd toe phalanx	1	CL E G H
HP:0100927	HP:0100940	Sclerosis of the distal phalanx of the 3rd toe	1	CL E G H
HP:0100927	HP:0100936	Sclerosis of the middle phalanx of the 3rd toe	1	CL E G H
HP:0100927	HP:0100932	Sclerosis of the proximal phalanx of the 3rd toe	1	CL E G H
HP:0100927	HP:0100461	Patchy sclerosis of the middle phalanx of the 3rd toe	2	CL E G H
HP:0100927	HP:0100467	Patchy sclerosis of the distal phalanx of the 3rd toe	2	CL E G H
HP:0100927	HP:0100464	Patchy sclerosis of the proximal phalanx of the 3rd toe	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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