Human Phenotype Ontology

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:0010058	HP:0010058	Aplasia/Hypoplasia of the phalanges of the hallux	0	ACVR1 CL E G H	90	171	ORPHA:337	Fibrodysplasia ossificans progressiva	HP:0040282 - Frequent	49
HP:0010058	HP:0010058	Aplasia/Hypoplasia of the phalanges of the hallux	0	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome		111
HP:0010058	HP:0010058	Aplasia/Hypoplasia of the phalanges of the hallux	0	HOXD13 CL E G H	3239	5136	ORPHA:93387	Brachydactyly type E		25
HP:0010058	HP:0010058	Aplasia/Hypoplasia of the phalanges of the hallux	0	IHH CL E G H	3549	5956	OMIM:112500	Brachydactyly, type A1		44
HP:0010058	HP:0010058	Aplasia/Hypoplasia of the phalanges of the hallux	0	MAP3K20 CL E G H	51776	17797	ORPHA:488232	Split-foot malformation-mesoaxial polydactyly syndrome		2
HP:0010058	HP:0010058	Aplasia/Hypoplasia of the phalanges of the hallux	0	PTHLH CL E G H	5744	9607	ORPHA:93387	Brachydactyly type E		6
HP:0010058	HP:0010058	Aplasia/Hypoplasia of the phalanges of the hallux	0	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome		6
HP:0010058	HP:0010110	Aplasia of the phalanges of the hallux	1	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome		111
HP:0010058	HP:0010085	Aplasia/Hypoplasia of the proximal phalanx of the hallux	1	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome		111
HP:0010058	HP:0010111	Short phalanx of hallux	1	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome		111
HP:0010058	HP:0010076	Aplasia/Hypoplasia of the distal phalanx of the hallux	1	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome		111
HP:0010058	HP:0010076	Aplasia/Hypoplasia of the distal phalanx of the hallux	1	HOXD13 CL E G H	3239	5136	ORPHA:93387	Brachydactyly type E	HP:0040283 - Occasional	25
HP:0010058	HP:0010085	Aplasia/Hypoplasia of the proximal phalanx of the hallux	1	IHH CL E G H	3549	5956	OMIM:112500	Brachydactyly, type A1		44
HP:0010058	HP:0010111	Short phalanx of hallux	1	IHH CL E G H	3549	5956	OMIM:112500	Brachydactyly, type A1		44
HP:0010058	HP:0010076	Aplasia/Hypoplasia of the distal phalanx of the hallux	1	MAP3K20 CL E G H	51776	17797	ORPHA:488232	Split-foot malformation-mesoaxial polydactyly syndrome		2
HP:0010058	HP:0010076	Aplasia/Hypoplasia of the distal phalanx of the hallux	1	PTHLH CL E G H	5744	9607	ORPHA:93387	Brachydactyly type E	HP:0040283 - Occasional	6
HP:0010058	HP:0010076	Aplasia/Hypoplasia of the distal phalanx of the hallux	1	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome		6
HP:0010058	HP:0010110	Aplasia of the phalanges of the hallux	1	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome		6
HP:0010058	HP:0010085	Aplasia/Hypoplasia of the proximal phalanx of the hallux	1	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome		6
HP:0010058	HP:0010111	Short phalanx of hallux	1	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome		6
HP:0010058	HP:0010106	Aplasia of the proximal phalanx of the hallux	2	CL E G H
HP:0010058	HP:0010103	Short distal phalanx of hallux	2	CL E G H
HP:0010058	HP:0010107	Short proximal phalanx of hallux	2	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome	HP:0040281 - Very frequent	111
HP:0010058	HP:0010102	Aplasia of the distal phalanx of the hallux	2	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome	HP:0040281 - Very frequent	111
HP:0010058	HP:0010107	Short proximal phalanx of hallux	2	IHH CL E G H	3549	5956	OMIM:112500	Brachydactyly, type A1		44
HP:0010058	HP:0010107	Short proximal phalanx of hallux	2	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome	HP:0040281 - Very frequent	6
HP:0010058	HP:0010102	Aplasia of the distal phalanx of the hallux	2	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome	HP:0040281 - Very frequent	6