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 hallux (HP:0001844)

Grandparent Node:
Absent toe (HP:0010760)

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

..Starting node
..Absent hallux (HP:0012386)

Term ID:

12386

Name:

Absent hallux

Synonym:

Absent big toe; Agenesis of the halluces; Aplasia of the hallux; Missing big toe

Definition:

Aplasia of the hallux, that is, a development defect such that the big toe does not develop.

Comments:

Reference:

HP:0012386

Genes and Diseases:

Child Nodes:

Sister Nodes:

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

Short hallux (HP:0010109)

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:0012386	HP:0012386	Absent hallux	0	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome		111
HP:0012386	HP:0012386	Absent hallux	0	GLI3 CL E G H	2737	4319	ORPHA:93322	Tibial hemimelia	HP:0040283 - Occasional	270

Genes (2) :FIG4 GLI3

Diseases (2) :OMIM:216340 ORPHA:93322

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