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:0010004	HP:0010004	Partial duplication of the distal phalanges of the hand	0	CANT1 CL E G H	124583	19721	OMIM:251450	Desbuquois dysplasia 1		85
HP:0010004	HP:0010004	Partial duplication of the distal phalanges of the hand	0	FGFR2 CL E G H	2263	3689	OMIM:101400	Saethre-Chotzen syndrome		175
HP:0010004	HP:0010004	Partial duplication of the distal phalanges of the hand	0	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome		167
HP:0010004	HP:0010004	Partial duplication of the distal phalanges of the hand	0	PAH CL E G H	5053	8582	ORPHA:2209	Maternal phenylketonuria		641
HP:0010004	HP:0010004	Partial duplication of the distal phalanges of the hand	0	PPP2R3C CL E G H	55012	17485	OMIM:618419	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
HP:0010004	HP:0010004	Partial duplication of the distal phalanges of the hand	0	TWIST1 CL E G H	7291	12428	OMIM:101400	Saethre-Chotzen syndrome		18
HP:0010004	HP:0009994	Partial duplication of the distal phalanx of the 5th finger	1	CL E G H
HP:0010004	HP:0009981	Partial duplication of the distal phalanx of the 4th finger	1	CL E G H
HP:0010004	HP:0009611	Bifid distal phalanx of the thumb	1	CANT1 CL E G H	124583	19721	OMIM:251450	Desbuquois dysplasia 1		85
HP:0010004	HP:0009951	Partial duplication of the distal phalanx of the 2nd finger	1	FGFR2 CL E G H	2263	3689	OMIM:101400	Saethre-Chotzen syndrome	.	175
HP:0010004	HP:0009968	Partial duplication of the distal phalanx of the 3rd finger	1	FGFR2 CL E G H	2263	3689	OMIM:101400	Saethre-Chotzen syndrome	.	175
HP:0010004	HP:0009611	Bifid distal phalanx of the thumb	1	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome	.	167
HP:0010004	HP:0009611	Bifid distal phalanx of the thumb	1	PAH CL E G H	5053	8582	ORPHA:2209	Maternal phenylketonuria	HP:0040284 - Very rare	641
HP:0010004	HP:0009611	Bifid distal phalanx of the thumb	1	PPP2R3C CL E G H	55012	17485	OMIM:618419	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy	HP:0040284 - Very rare
HP:0010004	HP:0009951	Partial duplication of the distal phalanx of the 2nd finger	1	TWIST1 CL E G H	7291	12428	OMIM:101400	Saethre-Chotzen syndrome	.	18
HP:0010004	HP:0009968	Partial duplication of the distal phalanx of the 3rd finger	1	TWIST1 CL E G H	7291	12428	OMIM:101400	Saethre-Chotzen syndrome	.	18