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:
Abnormality of the distal phalanx of the hallux (HP:0010053)

Grandparent Node:
Aplasia/Hypoplasia of the distal phalanges of the toes (HP:0010185)

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

Parent Node:
Aplasia of the distal phalanges of the toes (HP:0010645)

Parent Node:
Aplasia of the phalanges of the hallux (HP:0010110)

Parent Node:
Aplasia/Hypoplasia of the distal phalanx of the hallux (HP:0010076)

..Starting node
..Aplasia of the distal phalanx of the hallux (HP:0010102)

Term ID:

10102

Name:

Aplasia of the distal phalanx of the hallux

Synonym:

Absent outermost bone of big toe

Definition:

Comments:

Reference:

HP:0010102

Genes and Diseases:

Child Nodes:

Sister Nodes:

Short distal phalanx of hallux (HP:0010103)

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:0010102	HP:0010102	Aplasia of the distal phalanx of the hallux	0	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome	HP:0040281 - Very frequent	111
HP:0010102	HP:0010102	Aplasia of the distal phalanx of the hallux	0	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome	HP:0040281 - Very frequent	6

Genes (2) :FIG4 VAC14

Diseases (1) :ORPHA:3472

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