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 epiphyses of the toes (HP:0010160)

Grandparent Node:
Cone-shaped epiphysis (HP:0010579)

Parent Node:
Abnormality of the epiphyses of the 3rd toe (HP:0010329)

Parent Node:
Cone-shaped epiphyses of the toes (HP:0010164)

..Starting node
..Cone-shaped epiphyses of the 3rd toe (HP:0100057)

Term ID:

100057

Name:

Cone-shaped epiphyses of the 3rd toe

Synonym:

Cone-shaped end part of the 3rd toe bone

Definition:

Comments:

Reference:

HP:0100057

Genes and Diseases:

Child Nodes:

........

Cone-shaped epiphysis of the distal phalanx of the 3rd toe (HP:0100137)

........

Cone-shaped epiphysis of the middle phalanx of the 3rd toe (HP:0100148)

........

Cone-shaped epiphysis of the proximal phalanx of the 3rd toe (HP:0100159)

Sister Nodes:

Cone-shaped epiphyses of the 2nd toe (HP:0100046)

Cone-shaped epiphyses of the 4th toe (HP:0100068)

Cone-shaped epiphyses of the 5th toe (HP:0100079)

Cone-shaped epiphyses of the hallux (HP:0010115)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0100057	HP:0100057	Cone-shaped epiphyses of the 3rd toe	0	TBC1D2B CL E G H	23102	29183	ORPHA:397973	Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome	HP:0040283 - Occasional
HP:0100057	HP:0100159	Cone-shaped epiphysis of the proximal phalanx of the 3rd toe	1	CL E G H
HP:0100057	HP:0100148	Cone-shaped epiphysis of the middle phalanx of the 3rd toe	1	CL E G H
HP:0100057	HP:0100137	Cone-shaped epiphysis of the distal phalanx of the 3rd toe	1	CL E G H

Genes (1) :TBC1D2B

Diseases (1) :ORPHA:397973

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.