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 2nd toe (HP:0010319)

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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 2nd toe (HP:0010323)

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..Starting node
..Abnormality of the epiphysis of the distal phalanx of the 2nd toe (HP:0100088)

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Term ID:

100088

Name:

Abnormality of the epiphysis of the distal phalanx of the 2nd toe

Synonym:

Abnormality of the end part of the outermost bone of the 2nd toe

Definition:

Comments:

Reference:

Genes and Diseases:

Child Nodes:

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Absent epiphysis of the distal phalanx of the 2nd toe (HP:0100100)

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Bracket epiphysis of the distal phalanx of the 2nd toe (HP:0100101)

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Cone-shaped epiphysis of the distal phalanx of the 2nd toe (HP:0100102)

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Enlarged epiphysis of the distal phalanx of the 2nd toe (HP:0100103)

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Fragmentation of the epiphysis of the distal phalanx of the 2nd toe (HP:0100104)

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Irregular epiphysis of the distal phalanx of the 2nd toe (HP:0100105)

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Ivory epiphysis of the distal phalanx of the 2nd toe (HP:0100106)

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Pseudoepiphysis of the distal phalanx of the 2nd toe (HP:0100107)

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Small epiphysis of the distal phalanx of the 2nd toe (HP:0100108)

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Stippling of the epiphysis of the distal phalanx of the 2nd toe (HP:0100109)

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Triangular epiphysis of the distal phalanx of the 2nd toe (HP:0100110)

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Sister Nodes:

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Abnormality of the epiphysis of the middle phalanx of the 2nd toe (HP:0100089)

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Abnormality of the epiphysis of the proximal phalanx of the 2nd toe (HP:0100090)

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Absent epiphyses of the 2nd toe (HP:0100044)

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Bracket epiphyses of the 2nd toe (HP:0100045)

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

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Enlarged epiphyses of the 2nd toe (HP:0100047)

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Fragmentation of the epiphyses of the 2nd toe (HP:0100048)

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Irregular epiphyses of the 2nd toe (HP:0100049)

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Ivory epiphyses of the 2nd toe (HP:0100050)

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Pseudoepiphyses of the 2nd toe (HP:0100051)

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Small epiphyses of the 2nd toe (HP:0100052)

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Stippling of the epiphyses of the 2nd toe (HP:0100053)

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Triangular epiphyses of the 2nd toe (HP:0100054)

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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:0100088	HP:0100088	Abnormality of the epiphysis of the distal phalanx of the 2nd toe	0	CL E G H
HP:0100088	HP:0100109	Stippling of the epiphysis of the distal phalanx of the 2nd toe	1	CL E G H
HP:0100088	HP:0100102	Cone-shaped epiphysis of the distal phalanx of the 2nd toe	1	CL E G H
HP:0100088	HP:0100108	Small epiphysis of the distal phalanx of the 2nd toe	1	CL E G H
HP:0100088	HP:0100101	Bracket epiphysis of the distal phalanx of the 2nd toe	1	CL E G H
HP:0100088	HP:0100107	Pseudoepiphysis of the distal phalanx of the 2nd toe	1	CL E G H
HP:0100088	HP:0100100	Absent epiphysis of the distal phalanx of the 2nd toe	1	CL E G H
HP:0100088	HP:0100106	Ivory epiphysis of the distal phalanx of the 2nd toe	1	CL E G H
HP:0100088	HP:0100105	Irregular epiphysis of the distal phalanx of the 2nd toe	1	CL E G H
HP:0100088	HP:0100104	Fragmentation of the epiphysis of the distal phalanx of the 2nd toe	1	CL E G H
HP:0100088	HP:0100110	Triangular epiphysis of the distal phalanx of the 2nd toe	1	CL E G H
HP:0100088	HP:0100103	Enlarged epiphysis of the distal phalanx of the 2nd 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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