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:0010053	HP:0010053	Abnormality of the distal phalanx of the hallux	0	CANT1 CL E G H	124583	19721	OMIM:251450	Desbuquois dysplasia 1		85
HP:0010053	HP:0010053	Abnormality of the distal phalanx of the hallux	0	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome		111
HP:0010053	HP:0010053	Abnormality of the distal phalanx of the hallux	0	HOXD13 CL E G H	3239	5136	ORPHA:93387	Brachydactyly type E		25
HP:0010053	HP:0010053	Abnormality of the distal phalanx of the hallux	0	HOXD13 CL E G H	3239	5136	OMIM:113200	Brachydactyly, type D		25
HP:0010053	HP:0010053	Abnormality of the distal phalanx of the hallux	0	MAP3K20 CL E G H	51776	17797	ORPHA:488232	Split-foot malformation-mesoaxial polydactyly syndrome		2
HP:0010053	HP:0010053	Abnormality of the distal phalanx of the hallux	0	PTHLH CL E G H	5744	9607	ORPHA:93387	Brachydactyly type E		6
HP:0010053	HP:0010053	Abnormality of the distal phalanx of the hallux	0	TBR1 CL E G H	10716	11590	ORPHA:1617	2q24 microdeletion syndrome		1
HP:0010053	HP:0010053	Abnormality of the distal phalanx of the hallux	0	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome		6
HP:0010053	HP:0100944	Sclerosis of the distal phalanx of the hallux	1	CL E G H
HP:0010053	HP:0010080	Osteolytic defects of the distal phalanx of the hallux	1	CL E G H
HP:0010053	HP:0041180	Fractured distal phalanx of pedal digit 1	1	CL E G H
HP:0010053	HP:0010079	Curved distal phalanx of the hallux	1	CL E G H
HP:0010053	HP:0010083	Triangular shaped distal phalanx of the hallux	1	CL E G H
HP:0010053	HP:0010082	Symphalangism affecting the distal phalanx of the hallux	1	CL E G H
HP:0010053	HP:0010084	Duplication of the distal phalanx of the hallux	1	CANT1 CL E G H	124583	19721	OMIM:251450	Desbuquois dysplasia 1		85
HP:0010053	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:0010053	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:0010053	HP:0010077	Broad distal phalanx of the hallux	1	HOXD13 CL E G H	3239	5136	OMIM:113200	Brachydactyly, type D	.	25
HP:0010053	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:0010053	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:0010053	HP:0010078	Bullet-shaped distal phalanx of the hallux	1	TBR1 CL E G H	10716	11590	ORPHA:1617	2q24 microdeletion syndrome	HP:0040281 - Very frequent	1
HP:0010053	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:0010053	HP:0010081	Patchy sclerosis of the distal phalanx of the hallux	2	CL E G H
HP:0010053	HP:0010103	Short distal phalanx of hallux	2	CL E G H
HP:0010053	HP:0010096	Complete duplication of the distal phalanx of the hallux	2	CL E G H
HP:0010053	HP:0010097	Partial duplication of the distal phalanx of the hallux	2	CANT1 CL E G H	124583	19721	OMIM:251450	Desbuquois dysplasia 1	.	85
HP:0010053	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:0010053	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