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:
Abnormal 3rd finger phalanx morphology (HP:0009316)

Grandparent Node:
Finger symphalangism (HP:0009700)

Grandparent Node:
Symphalangism affecting the phalanges of the hand (HP:0009773)

Parent Node:
Abnormality of the proximal phalanx of the 3rd finger (HP:0009358)

Parent Node:
Symphalangism affecting the proximal phalanges of the hand (HP:0009857)

Parent Node:
Symphalangism of the 3rd finger (HP:0009445)

..Starting node
..Symphalangism affecting the proximal phalanx of the 3rd finger (HP:0009455)

Term ID:

9455

Name:

Symphalangism affecting the proximal phalanx of the 3rd finger

Synonym:

Fused innermost bone of middle finger

Definition:

Fusion of the proximal phalanx of the 3rd finger with another bone.

Comments:

Reference:

HP:0009455

Genes and Diseases:

Child Nodes:

........

Proximal/middle symphalangism of 3rd finger (HP:0009482)

........

Symphalangism of the proximal phalanx of the 3rd finger with the 3rd metatcarpal (HP:0009483)

Sister Nodes:

Symphalangism of middle phalanx of 3rd finger (HP:0009435)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0009455	HP:0009455	Symphalangism affecting the proximal phalanx of the 3rd finger	0	CL E G H
HP:0009455	HP:0009483	Symphalangism of the proximal phalanx of the 3rd finger with the 3rd metacarpal	1	CL E G H
HP:0009455	HP:0009482	Proximal/middle symphalangism of 3rd finger	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.