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 toes (HP:0010161)

Parent Node:
Abnormality of the distal phalanges of the toes (HP:0010182)

Parent Node:
Curved toe phalanx (HP:0010176)

..Starting node
..Curved distal toe phalanx (HP:0010188)

Term ID:

10188

Name:

Curved distal toe phalanx

Synonym:

Curved distal phalanges of the toes; Curved outermost bone of the toe

Definition:

A deviation from the normal straight form of one or more distal toe phalanges.

Comments:

Reference:

HP:0010188

Genes and Diseases:

Child Nodes:

........

Curved distal phalanx of the hallux (HP:0010079)

........

Curved distal phalanx of the 2nd toe (HP:0010416)

........

Curved distal phalanx of the 3rd toe (HP:0100449)

........

Curved distal phalanx of the 4th toe (HP:0100450)

........

Curved distal phalanx of the 5th toe (HP:0100451)

Sister Nodes:

Curved 2nd toe phalanx (HP:0010350)

Curved 3rd toe phalanx (HP:0010362)

Curved 4th toe phalanx (HP:0010374)

Curved 5th toe phalanx (HP:0010386)

Curved hallux phalanx (HP:0010061)

Curved middle toe phalanx (HP:0010197)

Curved proximal toe phalanx (HP:0010206)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0010188	HP:0010188	Curved distal toe phalanx	0	CL E G H
HP:0010188	HP:0100451	Curved distal phalanx of the 5th toe	1	CL E G H
HP:0010188	HP:0100450	Curved distal phalanx of the 4th toe	1	CL E G H
HP:0010188	HP:0100449	Curved distal phalanx of the 3rd toe	1	CL E G H
HP:0010188	HP:0010416	Curved distal phalanx of the 2nd toe	1	CL E G H
HP:0010188	HP:0010079	Curved distal 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.