Human Phenotype Ontology

Hello! Guest! Please Login or Register! Clinician Mode

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:
Abnormal hallux phalanx morphology (HP:0010057)

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

Grandparent Node:
Aplasia/Hypoplasia of the phalanges of the toes (HP:0010173)

Parent Node:
Abnormal morphology of the proximal phalanx of the hallux (HP:0010052)

Parent Node:
Aplasia/Hypoplasia of the middle phalanges of the toes (HP:0010194)

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

..Starting node
..Aplasia/Hypoplasia of the proximal phalanx of the hallux (HP:0010085)

Term ID:

10085

Name:

Aplasia/Hypoplasia of the proximal phalanx of the hallux

Synonym:

Absent/small innermost big toe bone; Absent/underdeveloped innermost big toe bone

Definition:

Comments:

Reference:

HP:0010085

Genes and Diseases:

Child Nodes:

........

Aplasia of the proximal phalanx of the hallux (HP:0010106)

........

Short proximal phalanx of hallux (HP:0010107)

Sister Nodes:

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

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

Short phalanx of hallux (HP:0010111)

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:0010085	HP:0010085	Aplasia/Hypoplasia of the proximal phalanx of the hallux	0	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome		111
HP:0010085	HP:0010085	Aplasia/Hypoplasia of the proximal phalanx of the hallux	0	IHH CL E G H	3549	5956	OMIM:112500	Brachydactyly, type A1		44
HP:0010085	HP:0010085	Aplasia/Hypoplasia of the proximal phalanx of the hallux	0	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome		6
HP:0010085	HP:0010106	Aplasia of the proximal phalanx of the hallux	1	CL E G H
HP:0010085	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:0010085	HP:0010107	Short proximal phalanx of hallux	1	IHH CL E G H	3549	5956	OMIM:112500	Brachydactyly, type A1		44
HP:0010085	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.