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 epiphyses of the toes (HP:0010160)

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Grandparent Node:
Abnormality of the hallux (HP:0001844)

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Parent Node:
Abnormality of the epiphyses of the hallux (HP:0010056)

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..Starting node
..Abnormality of the epiphysis of the distal phalanx of the hallux (HP:0010124)

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Term ID:

10124

Name:

Abnormality of the epiphysis of the distal phalanx of the hallux

Synonym:

Abnormality of the end part of the outermost bone of the big toe bone

Definition:

Comments:

Reference:

Genes and Diseases:

Child Nodes:

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Absent epiphysis of the distal phalanx of the hallux (HP:0010138)

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Bracket epiphysis of the distal phalanx of the hallux (HP:0010139)

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Cone-shaped epiphysis of the distal phalanx of the hallux (HP:0010140)

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Enlarged epiphysis of the distal phalanx of the hallux (HP:0010141)

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Fragmentation of the epiphysis of the distal phalanx of the hallux (HP:0010142)

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Irregular epiphysis of the distal phalanx of the hallux (HP:0010143)

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Ivory epiphysis of the distal phalanx of the hallux (HP:0010144)

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Pseudoepiphysis of the distal phalanx of the hallux (HP:0010145)

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Small epiphysis of the distal phalanx of the hallux (HP:0010146)

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Stippling of the epiphysis of the distal phalanx of the hallux (HP:0010147)

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Triangular epiphysis of the distal phalanx of the hallux (HP:0010148)

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Sister Nodes:

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Abnormality of the epiphysis of the 1st metatarsal (HP:0010125)

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Abnormality of the epiphysis of the proximal phalanx of the hallux (HP:0010126)

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Absent hallux epiphysis (HP:0010113)

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Bracket epiphyses of the hallux (HP:0010114)

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

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Enlarged epiphyses of the hallux (HP:0010116)

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Fragmentation of the epiphyses of the hallux (HP:0010117)

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Irregular epiphyses of the hallux (HP:0010118)

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Ivory epiphyses of the hallux (HP:0010119)

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Pseudoepiphyses of the hallux (HP:0010120)

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Small epiphyses of the hallux (HP:0010121)

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Stippling of the epiphyses of the hallux (HP:0010122)

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Triangular epiphyses of the hallux (HP:0010123)

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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:0010124	HP:0010124	Abnormality of the epiphysis of the distal phalanx of the hallux	0	CL E G H
HP:0010124	HP:0010142	Fragmentation of the epiphysis of the distal phalanx of the hallux	1	CL E G H
HP:0010124	HP:0010148	Triangular epiphysis of the distal phalanx of the hallux	1	CL E G H
HP:0010124	HP:0010141	Enlarged epiphysis of the distal phalanx of the hallux	1	CL E G H
HP:0010124	HP:0010147	Stippling of the epiphysis of the distal phalanx of the hallux	1	CL E G H
HP:0010124	HP:0010140	Cone-shaped epiphysis of the distal phalanx of the hallux	1	CL E G H
HP:0010124	HP:0010146	Small epiphysis of the distal phalanx of the hallux	1	CL E G H
HP:0010124	HP:0010139	Bracket epiphysis of the distal phalanx of the hallux	1	CL E G H
HP:0010124	HP:0010145	Pseudoepiphysis of the distal phalanx of the hallux	1	CL E G H
HP:0010124	HP:0010138	Absent epiphysis of the distal phalanx of the hallux	1	CL E G H
HP:0010124	HP:0010144	Ivory epiphysis of the distal phalanx of the hallux	1	CL E G H
HP:0010124	HP:0010143	Irregular epiphysis of the 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.

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