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 toe proximal phalanx (HP:0010184)

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

Parent Node:
Sclerosis of 4th toe phalanx (HP:0100928)

Parent Node:
Sclerosis of proximal toe phalanx (HP:0100946)

..Starting node
..Sclerosis of the proximal phalanx of the 4th toe (HP:0100933)

Term ID:

100933

Name:

Sclerosis of the proximal phalanx of the 4th toe

Synonym:

Increased bone density in the innermost bone of the 4th toe

Definition:

Comments:

Reference:

HP:0100933

Genes and Diseases:

Child Nodes:

........

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

Sister Nodes:

Patchy sclerosis of proximal toe phalanx (HP:0010208)

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

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

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

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0100933	HP:0100933	Sclerosis of the proximal phalanx of the 4th toe	0	CL E G H
HP:0100933	HP:0100465	Patchy sclerosis of the proximal phalanx of the 4th toe	1	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.