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

Human Phenotype Ontology

Grandparent Node:
Abnormality of the 5th toe (HP:0010322)

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Grandparent Node:
Abnormality of the epiphyses of the toes (HP:0010160)

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Parent Node:
Abnormality of the epiphyses of the 5th toe (HP:0010341)

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..Starting node
..Abnormality of the epiphysis of the proximal phalanx of the 5th toe (HP:0100099)

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Term ID:

100099

Name:

Abnormality of the epiphysis of the proximal phalanx of the 5th toe

Synonym:

Abnormality of the end part of the innermost bone of the little toe; Abnormality of the end part of the innermost bone of the pinkie toe; Abnormality of the end part of the innermost bone of the pinky toe

Definition:

Comments:

Reference:

Genes and Diseases:

Child Nodes:

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Absent epiphysis of the proximal phalanx of the 5th toe (HP:0100224)

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Bracket epiphysis of the proximal phalanx of the 5th toe (HP:0100225)

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Cone-shaped epiphysis of the proximal phalanx of the 5th toe (HP:0100226)

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Enlarged epiphysis of the proximal phalanx of the 5th toe (HP:0100227)

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Fragmentation of the epiphysis of the proximal phalanx of the 5th toe (HP:0100228)

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Irregular epiphysis of the proximal phalanx of the 5th toe (HP:0100229)

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Ivory epiphysis of the proximal phalanx of the 5th toe (HP:0100230)

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Pseudoepiphysis of the proximal phalanx of the 5th toe (HP:0100231)

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Small epiphysis of the proximal phalanx of the 5th toe (HP:0100232)

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Stippling of the epiphysis of the proximal phalanx of the 5th toe (HP:0100233)

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Triangular epiphysis of the proximal phalanx of the 5th toe (HP:0100234)

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Sister Nodes:

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Abnormality of the epiphysis of the distal phalanx of the 5th toe (HP:0100097)

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Abnormality of the epiphysis of the middle phalanx of the 5th toe (HP:0100098)

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Absent epiphyses of the 5th toe (HP:0100077)

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Bracket epiphyses of the 5th toe (HP:0100078)

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

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Enlarged epiphyses of the 5th toe (HP:0100080)

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Fragmentation of the epiphyses of the 5th toe (HP:0100081)

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Irregular epiphyses of the 5th toe (HP:0100082)

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Ivory epiphyses of the 5th toe (HP:0100083)

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Pseudoepiphyses of the 5th toe (HP:0100084)

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Small epiphyses of the 5th toe (HP:0100085)

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Stippling of the epiphyses of the 5th toe (HP:0100086)

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Triangular epiphyses of the 5th toe (HP:0100087)

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Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	Onset	HGMD variants	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0100099	HP:0100099	Abnormality of the epiphysis of the proximal phalanx of the 5th toe	0	CL E G H
HP:0100099	HP:0100226	Cone-shaped epiphysis of the proximal phalanx of the 5th toe	1	CL E G H
HP:0100099	HP:0100232	Small epiphysis of the proximal phalanx of the 5th toe	1	CL E G H
HP:0100099	HP:0100225	Bracket epiphysis of the proximal phalanx of the 5th toe	1	CL E G H
HP:0100099	HP:0100231	Pseudoepiphysis of the proximal phalanx of the 5th toe	1	CL E G H
HP:0100099	HP:0100224	Absent epiphysis of the proximal phalanx of the 5th toe	1	CL E G H
HP:0100099	HP:0100230	Ivory epiphysis of the proximal phalanx of the 5th toe	1	CL E G H
HP:0100099	HP:0100229	Irregular epiphysis of the proximal phalanx of the 5th toe	1	CL E G H
HP:0100099	HP:0100228	Fragmentation of the epiphysis of the proximal phalanx of the 5th toe	1	CL E G H
HP:0100099	HP:0100234	Triangular epiphysis of the proximal phalanx of the 5th toe	1	CL E G H
HP:0100099	HP:0100227	Enlarged epiphysis of the proximal phalanx of the 5th toe	1	CL E G H
HP:0100099	HP:0100233	Stippling of the epiphysis of the proximal phalanx of the 5th toe	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.

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