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:0010675	HP:0010675	Abnormal foot bone ossification	0	CANT1 CL E G H	124583	19721	OMIM:251450	Desbuquois dysplasia 1		85
HP:0010675	HP:0010675	Abnormal foot bone ossification	0	COL2A1 CL E G H	1280	2200	OMIM:183900	Spondyloepiphyseal dysplasia congenita		284
HP:0010675	HP:0010675	Abnormal foot bone ossification	0	EBP CL E G H	10682	3133	OMIM:302960	Chondrodysplasia punctata 2, X-linked dominant		51
HP:0010675	HP:0010675	Abnormal foot bone ossification	0	EIF2AK3 CL E G H	9451	3255	OMIM:226980	Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus		65
HP:0010675	HP:0010675	Abnormal foot bone ossification	0	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II		493
HP:0010675	HP:0010675	Abnormal foot bone ossification	0	FLNA CL E G H	2316	3754	OMIM:300244	Terminal osseous dysplasia	.	493
HP:0010675	HP:0010675	Abnormal foot bone ossification	0	HOXA13 CL E G H	3209	5102	OMIM:140000	Hand-Foot-Genital syndrome		11
HP:0010675	HP:0010675	Abnormal foot bone ossification	0	INPPL1 CL E G H	3636	6080	ORPHA:3144	Schneckenbecken dysplasia		18
HP:0010675	HP:0010675	Abnormal foot bone ossification	0	MATN3 CL E G H	4148	6909	OMIM:607078	Epiphyseal dysplasia, multiple, 5		32
HP:0010675	HP:0010675	Abnormal foot bone ossification	0	PTH1R CL E G H	5745	9608	OMIM:215045	Chondrodysplasia, Blomstrand type		58
HP:0010675	HP:0010675	Abnormal foot bone ossification	0	PTH1R CL E G H	5745	9608	OMIM:600002	Eiken syndrome		58
HP:0010675	HP:0010675	Abnormal foot bone ossification	0	SLC35D1 CL E G H	23169	20800	OMIM:269250	Schneckenbecken dysplasia		9
HP:0010675	HP:0010675	Abnormal foot bone ossification	0	SLC35D1 CL E G H	23169	20800	ORPHA:3144	Schneckenbecken dysplasia		9
HP:0010675	HP:0010675	Abnormal foot bone ossification	0	TRIP11 CL E G H	9321	12305	OMIM:200600	Achondrogenesis, type IA	.	133
HP:0010675	HP:0008369	Abnormal tarsal ossification	1	CANT1 CL E G H	124583	19721	OMIM:251450	Desbuquois dysplasia 1		85
HP:0010675	HP:0008369	Abnormal tarsal ossification	1	COL2A1 CL E G H	1280	2200	OMIM:183900	Spondyloepiphyseal dysplasia congenita		284
HP:0010675	HP:0008369	Abnormal tarsal ossification	1	EBP CL E G H	10682	3133	OMIM:302960	Chondrodysplasia punctata 2, X-linked dominant		51
HP:0010675	HP:0008369	Abnormal tarsal ossification	1	EIF2AK3 CL E G H	9451	3255	OMIM:226980	Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus		65
HP:0010675	HP:0008371	Abnormal metatarsal ossification	1	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II		493
HP:0010675	HP:0008369	Abnormal tarsal ossification	1	HOXA13 CL E G H	3209	5102	OMIM:140000	Hand-Foot-Genital syndrome		11
HP:0010675	HP:0008369	Abnormal tarsal ossification	1	INPPL1 CL E G H	3636	6080	ORPHA:3144	Schneckenbecken dysplasia		18
HP:0010675	HP:0008369	Abnormal tarsal ossification	1	MATN3 CL E G H	4148	6909	OMIM:607078	Epiphyseal dysplasia, multiple, 5		32
HP:0010675	HP:0008369	Abnormal tarsal ossification	1	PTH1R CL E G H	5745	9608	OMIM:215045	Chondrodysplasia, Blomstrand type		58
HP:0010675	HP:0008369	Abnormal tarsal ossification	1	PTH1R CL E G H	5745	9608	OMIM:600002	Eiken syndrome		58
HP:0010675	HP:0008369	Abnormal tarsal ossification	1	SLC35D1 CL E G H	23169	20800	ORPHA:3144	Schneckenbecken dysplasia		9
HP:0010675	HP:0008369	Abnormal tarsal ossification	1	SLC35D1 CL E G H	23169	20800	OMIM:269250	Schneckenbecken dysplasia		9
HP:0010675	HP:0011836	Delayed talus ossification	2	CL E G H
HP:0010675	HP:0008108	Advanced tarsal ossification	2	CANT1 CL E G H	124583	19721	OMIM:251450	Desbuquois dysplasia 1	.	85
HP:0010675	HP:0008103	Delayed tarsal ossification	2	COL2A1 CL E G H	1280	2200	OMIM:183900	Spondyloepiphyseal dysplasia congenita		284
HP:0010675	HP:0008131	Tarsal stippling	2	EBP CL E G H	10682	3133	OMIM:302960	Chondrodysplasia punctata 2, X-linked dominant	.	51
HP:0010675	HP:0008134	Irregular tarsal ossification	2	EIF2AK3 CL E G H	9451	3255	OMIM:226980	Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus	.	65
HP:0010675	HP:0008087	Nonossified fifth metatarsal	2	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II	.	493
HP:0010675	HP:0008103	Delayed tarsal ossification	2	HOXA13 CL E G H	3209	5102	OMIM:140000	Hand-Foot-Genital syndrome	.	11
HP:0010675	HP:0008108	Advanced tarsal ossification	2	INPPL1 CL E G H	3636	6080	ORPHA:3144	Schneckenbecken dysplasia	HP:0040283 - Occasional	18
HP:0010675	HP:0008103	Delayed tarsal ossification	2	MATN3 CL E G H	4148	6909	OMIM:607078	Epiphyseal dysplasia, multiple, 5	.	32
HP:0010675	HP:0008108	Advanced tarsal ossification	2	PTH1R CL E G H	5745	9608	OMIM:215045	Chondrodysplasia, Blomstrand type	.	58
HP:0010675	HP:0008103	Delayed tarsal ossification	2	PTH1R CL E G H	5745	9608	OMIM:600002	Eiken syndrome		58
HP:0010675	HP:0008108	Advanced tarsal ossification	2	SLC35D1 CL E G H	23169	20800	ORPHA:3144	Schneckenbecken dysplasia	HP:0040283 - Occasional	9
HP:0010675	HP:0008108	Advanced tarsal ossification	2	SLC35D1 CL E G H	23169	20800	OMIM:269250	Schneckenbecken dysplasia	.	9
HP:0010675	HP:0008142	Delayed calcaneal ossification	3	COL2A1 CL E G H	1280	2200	OMIM:183900	Spondyloepiphyseal dysplasia congenita	.	284