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 4th toe (HP:0010336)

Grandparent Node:
Triangular shaped phalanges of the toes (HP:0010180)

Parent Node:
Proximal foot symphalangism (HP:0100237)

Parent Node:
Symphalangism affecting the middle phalanx of the 3rd toe (HP:0100470)

Parent Node:
Symphalangism affecting the proximal phalanx of the 3rd toe (HP:0100473)

Parent Node:
Triangular shaped phalanges of the 4th toe (HP:0010378)

..Starting node
..Proximal/middle symphalangism of 3rd toe (HP:0100480)

Term ID:

100480

Name:

Proximal/middle symphalangism of 3rd toe

Synonym:

Fused innermost and middle bones of 3rd toe; Symphalangism of the middle and proximal phalanges of the 3rd toe

Definition:

Bony fusion of the middle and proximal phalanges of the 3rd toe.

Comments:

Reference:

HP:0100480

Genes and Diseases:

Child Nodes:

Sister Nodes:

Symphalangism of the proximal phalanx of the 2nd toe with the 2nd metatarsal (HP:0100483)

Symphalangism of the proximal phalanx of the 5th toe with the 5th metatarsal (HP:0100486)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0100480	HP:0100480	Proximal/middle symphalangism of 3rd toe	0	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.