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 proximal phalanx of the hallux (HP:0010126)

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Term ID:

10126

Name:

Abnormality of the epiphysis of the proximal phalanx of the hallux

Synonym:

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

Definition:

In contrast to the metatarsals 2-5, the first metatarsal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5, whereas the proximal phalanx of the big toe is equivalent to the middle phalanges of the other digits. This term applies to abnormalities affecting the proximal phalanx of the hallux.

Comments:

Reference:

Genes and Diseases:

Child Nodes:

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Absent epiphysis of the proximal phalanx of the hallux (HP:0010127)

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Bracket epiphysis of the proximal phalanx of the hallux (HP:0010128)

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Cone-shaped epiphysis of the proximal phalanx of the hallux (HP:0010129)

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Enlarged epiphysis of the proximal phalanx of the hallux (HP:0010130)

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Fragmentation of the epiphysis of the proximal phalanx of the hallux (HP:0010131)

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Irregular epiphysis of the proximal phalanx of the hallux (HP:0010132)

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Ivory epiphysis of the proximal phalanx of the hallux (HP:0010133)

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Pseudoepiphysis of the proximal phalanx of the hallux (HP:0010134)

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Small epiphysis of the proximal phalanx of the hallux (HP:0010135)

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Stippling of the epiphysis of the proximal phalanx of the hallux (HP:0010136)

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Triangular epiphysis of the proximal phalanx of the hallux (HP:0010137)

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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 distal phalanx of the hallux (HP:0010124)

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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:0010126	HP:0010126	Abnormality of the epiphysis of the proximal phalanx of the hallux	0	CL E G H
HP:0010126	HP:0010131	Fragmentation of the epiphysis of the proximal phalanx of the hallux	1	CL E G H
HP:0010126	HP:0010137	Triangular epiphysis of the proximal phalanx of the hallux	1	CL E G H
HP:0010126	HP:0010130	Enlarged epiphysis of the proximal phalanx of the hallux	1	CL E G H
HP:0010126	HP:0010136	Stippling of the epiphysis of the proximal phalanx of the hallux	1	CL E G H
HP:0010126	HP:0010129	Cone-shaped epiphysis of the proximal phalanx of the hallux	1	CL E G H
HP:0010126	HP:0010135	Small epiphysis of the proximal phalanx of the hallux	1	CL E G H
HP:0010126	HP:0010128	Bracket epiphysis of the proximal phalanx of the hallux	1	CL E G H
HP:0010126	HP:0010134	Pseudoepiphysis of the proximal phalanx of the hallux	1	CL E G H
HP:0010126	HP:0010127	Absent epiphysis of the proximal phalanx of the hallux	1	CL E G H
HP:0010126	HP:0010133	Ivory epiphysis of the proximal phalanx of the hallux	1	CL E G H
HP:0010126	HP:0010132	Irregular epiphysis of the proximal 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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