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:
Abnormality of toe proximal phalanx (HP:0010184)

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

..Starting node
..Sclerosis of proximal toe phalanx (HP:0100946)

Term ID:

100946

Name:

Sclerosis of proximal toe phalanx

Synonym:

Increased bone density in innermost toe bone; Sclerosis of the proximal phalanges of the toes

Definition:

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

Comments:

Reference:

HP:0100946

Genes and Diseases:

Child Nodes:

........

Patchy sclerosis of proximal toe phalanx (HP:0010208)

................... HP:0010072 Patchy sclerosis of the 1st metatarsal
................... HP:0010400 Patchy sclerosis of the proximal phalanx of the 2nd toe
................... HP:0100464 Patchy sclerosis of the proximal phalanx of the 3rd toe
................... HP:0100465 Patchy sclerosis of the proximal phalanx of the 4th toe
................... HP:0100466 Patchy sclerosis of the proximal phalanx of the 5th toe

........

Sclerosis of the proximal phalanx of the 2nd toe (HP:0100931)

................... HP:0010400 Patchy sclerosis of the proximal phalanx of the 2nd 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 proximal phalanx of the 4th toe (HP:0100933)

................... HP:0100465 Patchy sclerosis of the proximal phalanx of the 4th toe

........

Sclerosis of the proximal phalanx of the 5th toe (HP:0100934)

................... HP:0100466 Patchy sclerosis of the proximal phalanx of the 5th toe

Sister Nodes:

Patchy sclerosis of toe phalanx (HP:0010178)

Sclerosis of 2nd toe phalanx (HP:0100926)

Sclerosis of 3rd toe phalanx (HP:0100927)

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)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0100946	HP:0100946	Sclerosis of proximal toe phalanx	0	CL E G H
HP:0100946	HP:0100934	Sclerosis of the proximal phalanx of the 5th toe	1	CL E G H
HP:0100946	HP:0100933	Sclerosis of the proximal phalanx of the 4th toe	1	CL E G H
HP:0100946	HP:0010208	Patchy sclerosis of proximal toe phalanx	1	CL E G H
HP:0100946	HP:0100932	Sclerosis of the proximal phalanx of the 3rd toe	1	CL E G H
HP:0100946	HP:0100931	Sclerosis of the proximal phalanx of the 2nd toe	1	CL E G H
HP:0100946	HP:0100465	Patchy sclerosis of the proximal phalanx of the 4th toe	2	CL E G H
HP:0100946	HP:0100464	Patchy sclerosis of the proximal phalanx of the 3rd toe	2	CL E G H
HP:0100946	HP:0010400	Patchy sclerosis of the proximal phalanx of the 2nd toe	2	CL E G H
HP:0100946	HP:0010072	Patchy sclerosis of the 1st metatarsal	2	CL E G H
HP:0100946	HP:0100466	Patchy sclerosis of the proximal phalanx of the 5th 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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