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 3rd toe (HP:0010320)

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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 3rd toe (HP:0010329)

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..Starting node
..Abnormality of the epiphysis of the distal phalanx of the 3rd toe (HP:0100091)

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Term ID:

100091

Name:

Abnormality of the epiphysis of the distal phalanx of the 3rd toe

Synonym:

Abnormality of the end part of the outermost bone of the 3rd toe

Definition:

Comments:

Reference:

Genes and Diseases:

Child Nodes:

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Absent epiphysis of the distal phalanx of the 3rd toe (HP:0100135)

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Bracket epiphysis of the distal phalanx of the 3rd toe (HP:0100136)

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

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Enlarged epiphysis of the distal phalanx of the 3rd toe (HP:0100138)

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Fragmentation of the epiphysis of the distal phalanx of the 3rd toe (HP:0100139)

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Irregular epiphysis of the distal phalanx of the 3rd toe (HP:0100140)

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Ivory epiphysis of the distal phalanx of the 3rd toe (HP:0100141)

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Pseudoepiphysis of the distal phalanx of the 3rd toe (HP:0100142)

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Small epiphysis of the distal phalanx of the 3rd toe (HP:0100143)

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Stippling of the epiphysis of the distal phalanx of the 3rd toe (HP:0100144)

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Triangular epiphysis of the distal phalanx of the 3rd toe (HP:0100145)

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Sister Nodes:

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Abnormality of the epiphysis of the middle phalanx of the 3rd toe (HP:0100092)

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Abnormality of the epiphysis of the proximal phalanx of the 3rd toe (HP:0100093)

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Absent epiphyses of the 3rd toe (HP:0100055)

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Bracket epiphyses of the 3rd toe (HP:0100056)

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

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Enlarged epiphyses of the 3rd toe (HP:0100058)

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Fragmentation of the epiphyses of the 3rd toe (HP:0100059)

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Irregular epiphyses of the 3rd toe (HP:0100060)

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Ivory epiphyses of the 3rd toe (HP:0100061)

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Pseudoepiphyses of the 3rd toe (HP:0100062)

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Small epiphyses of the 3rd toe (HP:0100063)

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Stippling of the epiphyses of the 3rd toe (HP:0100064)

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Triangular epiphyses of the 3rd toe (HP:0100065)

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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:0100091	HP:0100091	Abnormality of the epiphysis of the distal phalanx of the 3rd toe	0	CL E G H
HP:0100091	HP:0100137	Cone-shaped epiphysis of the distal phalanx of the 3rd toe	1	CL E G H
HP:0100091	HP:0100143	Small epiphysis of the distal phalanx of the 3rd toe	1	CL E G H
HP:0100091	HP:0100136	Bracket epiphysis of the distal phalanx of the 3rd toe	1	CL E G H
HP:0100091	HP:0100142	Pseudoepiphysis of the distal phalanx of the 3rd toe	1	CL E G H
HP:0100091	HP:0100135	Absent epiphysis of the distal phalanx of the 3rd toe	1	CL E G H
HP:0100091	HP:0100141	Ivory epiphysis of the distal phalanx of the 3rd toe	1	CL E G H
HP:0100091	HP:0100140	Irregular epiphysis of the distal phalanx of the 3rd toe	1	CL E G H
HP:0100091	HP:0100139	Fragmentation of the epiphysis of the distal phalanx of the 3rd toe	1	CL E G H
HP:0100091	HP:0100145	Triangular epiphysis of the distal phalanx of the 3rd toe	1	CL E G H
HP:0100091	HP:0100138	Enlarged epiphysis of the distal phalanx of the 3rd toe	1	CL E G H
HP:0100091	HP:0100144	Stippling of the epiphysis of the distal phalanx of the 3rd 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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