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

..Starting node
..Fractured distal phalanx (HP:0041218)

Term ID:

41218

Name:

Fractured distal phalanx

Synonym:

bone distal phalanx

Definition:

A partial or complete breakage of the distal phalanx.

Comments:

Reference:

HP:0041218

Genes and Diseases:

Child Nodes:

Sister Nodes:

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0041218	HP:0041218	Fractured distal phalanx	0	CL E G H
HP:0041218	HP:0041174	Fractured distal phalanx of manus	1	CL E G H
HP:0041218	HP:0041181	Fractured distal phalanx of pedal digit 3	1	CL E G H
HP:0041218	HP:0041180	Fractured distal phalanx of pedal digit 1	1	CL E G H
HP:0041218	HP:0041177	Fractured distal phalanx of manual digit 3	2	CL E G H
HP:0041218	HP:0041176	Fractured distal phalanx of manual digit 2	2	CL E G H
HP:0041218	HP:0041179	Fractured distal phalanx of manual digit 5	2	CL E G H
HP:0041218	HP:0041178	Fractured distal phalanx of manual digit 4	2	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.