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:0100899	HP:0100899	Sclerosis of finger phalanx	0	EIF2AK3 CL E G H	9451	3255	OMIM:226980	Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus		65
HP:0100899	HP:0100899	Sclerosis of finger phalanx	0	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B		199
HP:0100899	HP:0100899	Sclerosis of finger phalanx	0	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A		55
HP:0100899	HP:0100899	Sclerosis of finger phalanx	0	GJA1 CL E G H	2697	4274	OMIM:218400	Craniometaphyseal dysplasia, autosomal recessive		68
HP:0100899	HP:0100899	Sclerosis of finger phalanx	0	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome	HP:0040283 - Occasional	32
HP:0100899	HP:0100899	Sclerosis of finger phalanx	0	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome		138
HP:0100899	HP:0100899	Sclerosis of finger phalanx	0	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia
HP:0100899	HP:0100899	Sclerosis of finger phalanx	0	TRPS1 CL E G H	7227	12340	OMIM:190350	Trichorhinophalangeal syndrome, type I		171
HP:0100899	HP:0100921	Sclerosis of 5th finger phalanx	1	CL E G H
HP:0100899	HP:0100920	Sclerosis of 4th finger phalanx	1	CL E G H
HP:0100899	HP:0100919	Sclerosis of 3rd finger phalanx	1	CL E G H
HP:0100899	HP:0100918	Sclerosis of 2nd finger phalanx	1	CL E G H
HP:0100899	HP:0100917	Sclerosis of proximal finger phalanx	1	CL E G H
HP:0100899	HP:0100916	Sclerosis of middle finger phalanx	1	CL E G H
HP:0100899	HP:0100922	Sclerosis of thumb phalanx	1	CL E G H
HP:0100899	HP:0010234	Ivory epiphyses of the phalanges of the hand	1	EIF2AK3 CL E G H	9451	3255	OMIM:226980	Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus	.	65
HP:0100899	HP:0010234	Ivory epiphyses of the phalanges of the hand	1	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B	.	199
HP:0100899	HP:0010234	Ivory epiphyses of the phalanges of the hand	1	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A	.	55
HP:0100899	HP:0009772	Patchy sclerosis of finger phalanx	1	GJA1 CL E G H	2697	4274	OMIM:218400	Craniometaphyseal dysplasia, autosomal recessive	.	68
HP:0100899	HP:0010234	Ivory epiphyses of the phalanges of the hand	1	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome		138
HP:0100899	HP:0100915	Sclerosis of distal finger phalanx	1	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome		138
HP:0100899	HP:0010234	Ivory epiphyses of the phalanges of the hand	1	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia	HP:0040283 - Occasional
HP:0100899	HP:0010234	Ivory epiphyses of the phalanges of the hand	1	TRPS1 CL E G H	7227	12340	OMIM:190350	Trichorhinophalangeal syndrome, type I		171
HP:0100899	HP:0100915	Sclerosis of distal finger phalanx	1	TRPS1 CL E G H	7227	12340	OMIM:190350	Trichorhinophalangeal syndrome, type I		171
HP:0100899	HP:0100907	Sclerosis of the middle phalanx of the 5th finger	2	CL E G H
HP:0100899	HP:0009848	Patchy sclerosis of middle phalanx of finger	2	CL E G H
HP:0100899	HP:0100913	Sclerosis of the proximal phalanx of the thumb	2	CL E G H
HP:0100899	HP:0100900	Sclerosis of the distal phalanx of the 2nd finger	2	CL E G H
HP:0100899	HP:0009416	Ivory epiphyses of the 3rd finger	2	CL E G H
HP:0100899	HP:0100906	Sclerosis of the middle phalanx of the 4th finger	2	CL E G H
HP:0100899	HP:0009840	Patchy sclerosis of distal phalanx of finger	2	CL E G H
HP:0100899	HP:0100912	Sclerosis of the distal phalanx of the thumb	2	CL E G H
HP:0100899	HP:0010274	Ivory epiphyses of the proximal phalanges of the hand	2	CL E G H
HP:0100899	HP:0009406	Patchy sclerosis of 4th finger phalanx	2	CL E G H
HP:0100899	HP:0100905	Sclerosis of the middle phalanx of the 3rd finger	2	CL E G H
HP:0100899	HP:0009692	Ivory epiphysis of the thumb	2	CL E G H
HP:0100899	HP:0100911	Sclerosis of the proximal phalanx of the 5th finger	2	CL E G H
HP:0100899	HP:0009494	Ivory epiphyses of the 2nd finger	2	CL E G H
HP:0100899	HP:0010263	Ivory epiphyses of the middle phalanges of the hand	2	CL E G H
HP:0100899	HP:0100904	Sclerosis of the middle phalanx of the 2nd finger	2	CL E G H
HP:0100899	HP:0009399	Ivory epiphyses of the 4th finger	2	CL E G H
HP:0100899	HP:0100910	Sclerosis of the proximal phalanx of the 4th finger	2	CL E G H
HP:0100899	HP:0100903	Sclerosis of the distal phalanx of the 5th finger	2	CL E G H
HP:0100899	HP:0009388	Ivory epiphyses of the 5th finger	2	CL E G H
HP:0100899	HP:0100909	Sclerosis of the proximal phalanx of the 3rd finger	2	CL E G H
HP:0100899	HP:0009444	Patchy sclerosis of 3rd finger phalanx	2	CL E G H
HP:0100899	HP:0009551	Patchy sclerosis of 2nd finger phalanx	2	CL E G H
HP:0100899	HP:0100902	Sclerosis of the distal phalanx of the 4th finger	2	CL E G H
HP:0100899	HP:0009377	Patchy sclerosis of 5th finger phalanx	2	CL E G H
HP:0100899	HP:0009655	Patchy sclerosis of thumb phalanx	2	CL E G H
HP:0100899	HP:0100908	Sclerosis of the proximal phalanx of the 2nd finger	2	CL E G H
HP:0100899	HP:0009856	Patchy sclerosis of proximal phalanx of finger	2	CL E G H
HP:0100899	HP:0100914	Sclerosis of the 1st metacarpal	2	CL E G H
HP:0100899	HP:0100901	Sclerosis of the distal phalanx of the 3rd finger	2	CL E G H
HP:0100899	HP:0010252	Ivory epiphyses of the distal phalanges of the hand	2	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome		138
HP:0100899	HP:0010252	Ivory epiphyses of the distal phalanges of the hand	2	TRPS1 CL E G H	7227	12340	OMIM:190350	Trichorhinophalangeal syndrome, type I	.	171
HP:0100899	HP:0009157	Ivory epiphysis of the proximal phalanx of the 5th finger	3	CL E G H
HP:0100899	HP:0009646	Patchy sclerosis of the distal phalanx of the thumb	3	CL E G H
HP:0100899	HP:0009425	Patchy sclerosis of the distal phalanx of the 3rd finger	3	CL E G H
HP:0100899	HP:0009256	Ivory epiphysis of the distal phalanx of the 4th finger	3	CL E G H
HP:0100899	HP:0009519	Ivory epiphysis of the middle phalanx of the 2nd finger	3	CL E G H
HP:0100899	HP:0009341	Ivory epiphysis of the distal phalanx of the 3rd finger	3	CL E G H
HP:0100899	HP:0009634	Patchy sclerosis of the proximal phalanx of the thumb	3	CL E G H
HP:0100899	HP:0004223	Ivory epiphysis of the distal phalanx of the 5th finger	3	CL E G H
HP:0100899	HP:0009243	Patchy sclerosis of the distal phalanx of the 5th finger	3	CL E G H
HP:0100899	HP:0009508	Ivory epiphysis of the distal phalanx of the 2nd finger	3	CL E G H
HP:0100899	HP:0009327	Ivory epiphysis of the middle phalanx of the 3rd finger	3	CL E G H
HP:0100899	HP:0009585	Patchy sclerosis of the proximal phalanx of the 2nd finger	3	CL E G H
HP:0100899	HP:0009231	Patchy sclerosis of the proximal phalanx of the 5th finger	3	CL E G H
HP:0100899	HP:0009313	Patchy sclerosis of the proximal phalanx of the 4th finger	3	CL E G H
HP:0100899	HP:0009573	Patchy sclerosis of the middle phalanx of the 2nd finger	3	CL E G H
HP:0100899	HP:0009681	Ivory epiphysis of the distal phalanx of the thumb	3	CL E G H
HP:0100899	HP:0009220	Ivory epiphysis of the middle phalanx of the 4th finger	3	CL E G H
HP:0100899	HP:0009454	Patchy sclerosis of the proximal phalanx of the 3rd finger	3	CL E G H
HP:0100899	HP:0010031	Patchy sclerosis of the 1st metacarpal	3	CL E G H
HP:0100899	HP:0009307	Patchy sclerosis of the middle phalanx of the 4th finger	3	CL E G H
HP:0100899	HP:0009562	Patchy sclerosis of the distal phalanx of the 2nd finger	3	CL E G H
HP:0100899	HP:0009670	Ivory epiphysis of the proximal phalanx of the thumb	3	CL E G H
HP:0100899	HP:0009209	Ivory epiphysis of the middle phalanx of the 5th finger	3	CL E G H
HP:0100899	HP:0010021	Ivory epiphysis of the 1st metacarpal	3	CL E G H
HP:0100899	HP:0009304	Patchy sclerosis of the distal phalanx of the 4th finger	3	CL E G H
HP:0100899	HP:0009175	Patchy sclerosis of the middle phalanx of the 5th finger	3	CL E G H
HP:0100899	HP:0009434	Patchy sclerosis of the middle phalanx of the 3rd finger	3	CL E G H
HP:0100899	HP:0009267	Ivory epiphysis of the proximal phalanx of the 4th finger	3	CL E G H
HP:0100899	HP:0009530	Ivory epiphysis of the proximal phalanx of the 2nd finger	3	CL E G H
HP:0100899	HP:0009352	Ivory epiphysis of the proximal phalanx of the 3rd finger	3	CL E G H