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 middle phalanges of the toes (HP:0010183)

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

Parent Node:
Sclerosis of hallux phalanx (HP:0100930)

Parent Node:
Sclerosis of middle toe phalanx (HP:0100947)

..Starting node
..Sclerosis of the proximal phalanx of the hallux (HP:0100943)

Term ID:

100943

Name:

Sclerosis of the proximal phalanx of the hallux

Synonym:

Increased bone density in the innermost bone of the big toe

Definition:

Comments:

Reference:

HP:0100943

Genes and Diseases:

Child Nodes:

........

Patchy sclerosis of the proximal phalanx of the hallux (HP:0010090)

Sister Nodes:

Patchy sclerosis of middle toe phalanx (HP:0010199)

Sclerosis of the middle phalanx of the 2nd toe (HP:0100935)

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

Sclerosis of the middle phalanx of the 4th toe (HP:0100937)

Sclerosis of the middle phalanx of the 5th toe (HP:0100938)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0100943	HP:0100943	Sclerosis of the proximal phalanx of the hallux	0	CL E G H
HP:0100943	HP:0010090	Patchy sclerosis of the proximal phalanx of the hallux	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.