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:
Symphalangism affecting the phalanges of the 5th toe (HP:0010389)

Parent Node:
Distal foot symphalangism (HP:0001859)

Parent Node:
Symphalangism affecting the middle phalanx of the 5th toe (HP:0100472)

..Starting node
..Symphalangism affecting the distal phalanx of the 5th toe (HP:0100478)

Term ID:

100478

Name:

Symphalangism affecting the distal phalanx of the 5th toe

Synonym:

Fused outermost bones of the little toe; Fused outermost bones of the pinkie toe; Fused outermost bones of the pinky toe

Definition:

Comments:

Reference:

HP:0100478

Genes and Diseases:

Child Nodes:

Sister Nodes:

Proximal/middle symphalangism of 5th toe (HP:0100482)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0100478	HP:0100478	Symphalangism affecting the distal phalanx of the 5th 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.