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

Grandparent Node:
Aplasia/Hypoplasia of the hallux (HP:0008362)

Grandparent Node:
Short toe (HP:0001831)

Parent Node:
Aplasia/Hypoplasia of the phalanges of the hallux (HP:0010058)

Parent Node:
Hypoplasia of the phalanges of the toes (HP:0010746)

Parent Node:
Short hallux (HP:0010109)

..Starting node
..Short phalanx of hallux (HP:0010111)

Term ID:

10111

Name:

Short phalanx of hallux

Synonym:

Hypoplastic phalanges of the hallux; Short bone of big toe

Definition:

Underdevelopment (hypoplasia) of a phalanx of big toe.

Comments:

Reference:

HP:0010111

Genes and Diseases:

Child Nodes:

........

Short distal phalanx of hallux (HP:0010103)

........

Short proximal phalanx of hallux (HP:0010107)

Sister Nodes:

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0010111	HP:0010111	Short phalanx of hallux	0	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome		111
HP:0010111	HP:0010111	Short phalanx of hallux	0	IHH CL E G H	3549	5956	OMIM:112500	Brachydactyly, type A1		44
HP:0010111	HP:0010111	Short phalanx of hallux	0	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome		6
HP:0010111	HP:0010103	Short distal phalanx of hallux	1	CL E G H
HP:0010111	HP:0010107	Short proximal phalanx of hallux	1	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome	HP:0040281 - Very frequent	111
HP:0010111	HP:0010107	Short proximal phalanx of hallux	1	IHH CL E G H	3549	5956	OMIM:112500	Brachydactyly, type A1		44
HP:0010111	HP:0010107	Short proximal phalanx of hallux	1	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome	HP:0040281 - Very frequent	6

Genes (3) :FIG4 IHH VAC14

Diseases (2) :ORPHA:3472 OMIM:112500

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.