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:0010743	HP:0010743	Short metatarsal	0	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome	.	36
HP:0010743	HP:0010743	Short metatarsal	0	BMPR1B CL E G H	658	1077	ORPHA:93384	Brachydactyly type C	HP:0040282 - Frequent	90
HP:0010743	HP:0010743	Short metatarsal	0	CANT1 CL E G H	124583	19721	OMIM:251450	Desbuquois dysplasia 1	.	85
HP:0010743	HP:0010743	Short metatarsal	0	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0010743	HP:0010743	Short metatarsal	0	CHSY1 CL E G H	22856	17198	OMIM:605282	Temtamy preaxial brachydactyly syndrome	.	16
HP:0010743	HP:0010743	Short metatarsal	0	COG4 CL E G H	25839	18620	OMIM:618150	Saul-Wilson syndrome	.	67
HP:0010743	HP:0010743	Short metatarsal	0	COL2A1 CL E G H	1280	2200	OMIM:609162	Czech dysplasia, Metatarsal type	.	284
HP:0010743	HP:0010743	Short metatarsal	0	COL2A1 CL E G H	1280	2200	OMIM:271700	Spondyloperipheral dysplasia	.	284
HP:0010743	HP:0010743	Short metatarsal	0	COL2A1 CL E G H	1280	2200	ORPHA:1856	Spondyloperipheral dysplasia-short ulna syndrome	HP:0040283 - Occasional	284
HP:0010743	HP:0010743	Short metatarsal	0	DCHS1 CL E G H	8642	13681	OMIM:601390	Van maldergem syndrome 1		27
HP:0010743	HP:0010743	Short metatarsal	0	DYM CL E G H	54808	21317	OMIM:223800	Dyggve-Melchior-Clausen disease	.	65
HP:0010743	HP:0010743	Short metatarsal	0	EP300 CL E G H	2033	3373	OMIM:613684	Rubinstein-Taybi syndrome 2		250
HP:0010743	HP:0010743	Short metatarsal	0	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome		81
HP:0010743	HP:0010743	Short metatarsal	0	FAT4 CL E G H	79633	23109	OMIM:615546	Van maldergem syndrome 2		114
HP:0010743	HP:0010743	Short metatarsal	0	FBN1 CL E G H	2200	3603	OMIM:608328	Weill-Marchesani syndrome 2, dominant		1361
HP:0010743	HP:0010743	Short metatarsal	0	FGFR1 CL E G H	2260	3688	OMIM:123150	Jackson-Weiss syndrome	.	172
HP:0010743	HP:0010743	Short metatarsal	0	FGFR1 CL E G H	2260	3688	OMIM:166250	Osteoglophonic dysplasia	.	172
HP:0010743	HP:0010743	Short metatarsal	0	FGFR2 CL E G H	2263	3689	ORPHA:1540	Jackson-Weiss syndrome	HP:0040281 - Very frequent	175
HP:0010743	HP:0010743	Short metatarsal	0	FGFR2 CL E G H	2263	3689	OMIM:123150	Jackson-Weiss syndrome	.	175
HP:0010743	HP:0010743	Short metatarsal	0	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome		111
HP:0010743	HP:0010743	Short metatarsal	0	FLNA CL E G H	2316	3754	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040282 - Frequent	493
HP:0010743	HP:0010743	Short metatarsal	0	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II	.	493
HP:0010743	HP:0010743	Short metatarsal	0	FLNB CL E G H	2317	3755	OMIM:108720	Atelosteogenesis, type I	.	233
HP:0010743	HP:0010743	Short metatarsal	0	FLNB CL E G H	2317	3755	OMIM:150250	Larsen syndrome	.	233
HP:0010743	HP:0010743	Short metatarsal	0	GDF5 CL E G H	8200	4220	ORPHA:93384	Brachydactyly type C	HP:0040282 - Frequent	52
HP:0010743	HP:0010743	Short metatarsal	0	GDF5 CL E G H	8200	4220	OMIM:228900	Fibular hypoplasia and complex brachydactyly		52
HP:0010743	HP:0010743	Short metatarsal	0	GNAS CL E G H	2778	4392	ORPHA:79443	Pseudohypoparathyroidism type 1A	HP:0040282 - Frequent	101
HP:0010743	HP:0010743	Short metatarsal	0	GNAS CL E G H	2778	4392	ORPHA:79444	Pseudohypoparathyroidism type 1C	HP:0040282 - Frequent	101
HP:0010743	HP:0010743	Short metatarsal	0	GNAS CL E G H	2778	4392	OMIM:103580	Pseudohypoparathyroidism, type IA	.	101
HP:0010743	HP:0010743	Short metatarsal	0	GNAS CL E G H	2778	4392	OMIM:612462	Pseudohypoparathyroidism, type IC	.	101
HP:0010743	HP:0010743	Short metatarsal	0	GNAS CL E G H	2778	4392	ORPHA:79445	Pseudopseudohypoparathyroidism	HP:0040282 - Frequent	101
HP:0010743	HP:0010743	Short metatarsal	0	GNAS CL E G H	2778	4392	OMIM:612463	PSEUDOPSEUDOHYPOPARATHYROIDISM	.	101
HP:0010743	HP:0010743	Short metatarsal	0	HDAC4 CL E G H	9759	14063	OMIM:600430	Chromosome 2q37 deletion syndrome	.	33
HP:0010743	HP:0010743	Short metatarsal	0	HEPHL1 CL E G H	341208	30477	OMIM:261990	PILI TORTI AND DEVELOPMENTAL DELAY
HP:0010743	HP:0010743	Short metatarsal	0	HINT1 CL E G H	3094	4912	ORPHA:324442	Autosomal recessive axonal neuropathy with neuromyotonia		12
HP:0010743	HP:0010743	Short metatarsal	0	HOXA13 CL E G H	3209	5102	ORPHA:2438	Hand-foot-genital syndrome		11
HP:0010743	HP:0010743	Short metatarsal	0	HOXA13 CL E G H	3209	5102	OMIM:140000	Hand-Foot-Genital syndrome		11
HP:0010743	HP:0010743	Short metatarsal	0	HOXD13 CL E G H	3239	5136	ORPHA:93387	Brachydactyly type E	HP:0040283 - Occasional	25
HP:0010743	HP:0010743	Short metatarsal	0	HOXD13 CL E G H	3239	5136	OMIM:113300	Brachydactyly, type E	.	25
HP:0010743	HP:0010743	Short metatarsal	0	HOXD13 CL E G H	3239	5136	ORPHA:93409	Brachydactyly-syndactyly, Zhao type		25
HP:0010743	HP:0010743	Short metatarsal	0	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly		148
HP:0010743	HP:0010743	Short metatarsal	0	IFT52 CL E G H	51098	15901	OMIM:617102	Short-Rib thoracic dysplasia 16 with or without polydactyly	.	4
HP:0010743	HP:0010743	Short metatarsal	0	KCNJ2 CL E G H	3759	6263	OMIM:170390	Andersen cardiodysrhythmic periodic paralysis	.	193
HP:0010743	HP:0010743	Short metatarsal	0	KNSTRN CL E G H	90417	30767	OMIM:613328	Roifman-Chitayat syndrome	.	1
HP:0010743	HP:0010743	Short metatarsal	0	LZTFL1 CL E G H	54585	6741	OMIM:615994	BARDET-BIEDL SYNDROME 17; BBS17		4
HP:0010743	HP:0010743	Short metatarsal	0	MAP3K7 CL E G H	6885	6859	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040282 - Frequent	11
HP:0010743	HP:0010743	Short metatarsal	0	MAP3K7 CL E G H	6885	6859	OMIM:617137	Frontometaphyseal dysplasia 2	.	11
HP:0010743	HP:0010743	Short metatarsal	0	NPR2 CL E G H	4882	7944	OMIM:602875	Acromesomelic dysplasia, Maroteaux type	.	53
HP:0010743	HP:0010743	Short metatarsal	0	PDE4D CL E G H	5144	8783	ORPHA:950	Acrodysostosis	HP:0040281 - Very frequent	113
HP:0010743	HP:0010743	Short metatarsal	0	PDE4D CL E G H	5144	8783	OMIM:614613	Acrodysostosis 2 with or without hormone resistance	.	113
HP:0010743	HP:0010743	Short metatarsal	0	PDE4D CL E G H	5144	8783	ORPHA:280651	Acrodysostosis with multiple hormone resistance	HP:0040281 - Very frequent	113
HP:0010743	HP:0010743	Short metatarsal	0	PDE4D CL E G H	5144	8783	ORPHA:439822	PDE4D haploinsufficiency syndrome	HP:0040281 - Very frequent	113
HP:0010743	HP:0010743	Short metatarsal	0	PEX7 CL E G H	5191	8860	OMIM:266500	Refsum disease		72
HP:0010743	HP:0010743	Short metatarsal	0	PHYH CL E G H	5264	8940	OMIM:266500	Refsum disease		45
HP:0010743	HP:0010743	Short metatarsal	0	PIGS CL E G H	94005	14937	OMIM:618143	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0010743	HP:0010743	Short metatarsal	0	PIK3CD CL E G H	5293	8977	OMIM:613328	Roifman-Chitayat syndrome	.	9
HP:0010743	HP:0010743	Short metatarsal	0	POC1A CL E G H	25886	24488	OMIM:614813	Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis	.	10
HP:0010743	HP:0010743	Short metatarsal	0	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia	.	20
HP:0010743	HP:0010743	Short metatarsal	0	PRKAR1A CL E G H	5573	9388	ORPHA:950	Acrodysostosis	HP:0040281 - Very frequent	134
HP:0010743	HP:0010743	Short metatarsal	0	PRKAR1A CL E G H	5573	9388	OMIM:101800	Acrodysostosis 1, with or without hormone resistance		134
HP:0010743	HP:0010743	Short metatarsal	0	PRKAR1A CL E G H	5573	9388	ORPHA:280651	Acrodysostosis with multiple hormone resistance	HP:0040281 - Very frequent	134
HP:0010743	HP:0010743	Short metatarsal	0	PRKG2 CL E G H	5593	9416	OMIM:619636	ACROMESOMELIC DYSPLASIA 4; AMD4
HP:0010743	HP:0010743	Short metatarsal	0	PRMT7 CL E G H	54496	25557	OMIM:617157	Short stature, brachydactyly, intellectual developmental disability, and seizures	.	6
HP:0010743	HP:0010743	Short metatarsal	0	PRMT7 CL E G H	54496	25557	ORPHA:464288	Short stature-brachydactyly-obesity-global developmental delay syndrome		6
HP:0010743	HP:0010743	Short metatarsal	0	PTHLH CL E G H	5744	9607	ORPHA:93387	Brachydactyly type E	HP:0040283 - Occasional	6
HP:0010743	HP:0010743	Short metatarsal	0	PTHLH CL E G H	5744	9607	OMIM:613382	Brachydactyly, type E2	.	6
HP:0010743	HP:0010743	Short metatarsal	0	RAB33B CL E G H	83452	16075	OMIM:615222	Smith-Mccort dysplasia 2	.	53
HP:0010743	HP:0010743	Short metatarsal	0	RBPJ CL E G H	3516	5724	OMIM:614814	Adams-Oliver syndrome 3	.	3
HP:0010743	HP:0010743	Short metatarsal	0	RIPK4 CL E G H	54101	496	ORPHA:1401	CHAND syndrome		69
HP:0010743	HP:0010743	Short metatarsal	0	RSPRY1 CL E G H	89970	29420	ORPHA:457395	Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome		2
HP:0010743	HP:0010743	Short metatarsal	0	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1	.	124
HP:0010743	HP:0010743	Short metatarsal	0	SIL1 CL E G H	64374	24624	OMIM:248800	Marinesco-Sjogren syndrome	.	67
HP:0010743	HP:0010743	Short metatarsal	0	SLC26A2 CL E G H	1836	10994	ORPHA:93307	Multiple epiphyseal dysplasia type 4	HP:0040283 - Occasional	166
HP:0010743	HP:0010743	Short metatarsal	0	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome	.	146
HP:0010743	HP:0010743	Short metatarsal	0	SRY CL E G H	6736	11311	ORPHA:1772	45,X/46,XY mixed gonadal dysgenesis	HP:0040283 - Occasional	23
HP:0010743	HP:0010743	Short metatarsal	0	TCF4 CL E G H	6925	11634	ORPHA:2896	Pitt-Hopkins syndrome	HP:0040281 - Very frequent	241
HP:0010743	HP:0010743	Short metatarsal	0	TCF4 CL E G H	6925	11634	OMIM:610954	Pitt-Hopkins syndrome		241
HP:0010743	HP:0010743	Short metatarsal	0	TRPS1 CL E G H	7227	12340	ORPHA:77258	Trichorhinophalangeal syndrome type 1 and 3	HP:0040281 - Very frequent	171
HP:0010743	HP:0010743	Short metatarsal	0	TRPS1 CL E G H	7227	12340	OMIM:190350	Trichorhinophalangeal syndrome, type I	.	171
HP:0010743	HP:0010743	Short metatarsal	0	TRPS1 CL E G H	7227	12340	OMIM:190351	Trichorhinophalangeal syndrome, type III	.	171
HP:0010743	HP:0010743	Short metatarsal	0	TRPV4 CL E G H	59341	18083	ORPHA:93314	Spondylometaphyseal dysplasia, Kozlowski type	HP:0040282 - Frequent	214
HP:0010743	HP:0010743	Short metatarsal	0	VPS13B CL E G H	157680	2183	OMIM:216550	Cohen syndrome	.	546
HP:0010743	HP:0010743	Short metatarsal	0	VPS35L CL E G H	57020	24641	OMIM:619135	RITSCHER-SCHINZEL SYNDROME 3; RTSC3
HP:0010743	HP:0010743	Short metatarsal	0	ZNF407 CL E G H	55628	19904	OMIM:619557	SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES; SIMHA		68
HP:0010743	HP:0011845	Short second metatarsal	1	CL E G H
HP:0010743	HP:0004689	Short fourth metatarsal	1	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0010743	HP:0004704	Short fifth metatarsal	1	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0010743	HP:0004689	Short fourth metatarsal	1	DCHS1 CL E G H	8642	13681	OMIM:601390	Van maldergem syndrome 1	.	27
HP:0010743	HP:0010105	Short first metatarsal	1	EP300 CL E G H	2033	3373	OMIM:613684	Rubinstein-Taybi syndrome 2		250
HP:0010743	HP:0004689	Short fourth metatarsal	1	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome	.	81
HP:0010743	HP:0004689	Short fourth metatarsal	1	FAT4 CL E G H	79633	23109	OMIM:615546	Van maldergem syndrome 2	.	114
HP:0010743	HP:0004704	Short fifth metatarsal	1	GNAS CL E G H	2778	4392	ORPHA:79443	Pseudohypoparathyroidism type 1A	HP:0040282 - Frequent	101
HP:0010743	HP:0004704	Short fifth metatarsal	1	GNAS CL E G H	2778	4392	ORPHA:79444	Pseudohypoparathyroidism type 1C	HP:0040282 - Frequent	101
HP:0010743	HP:0004689	Short fourth metatarsal	1	HEPHL1 CL E G H	341208	30477	OMIM:261990	PILI TORTI AND DEVELOPMENTAL DELAY
HP:0010743	HP:0004704	Short fifth metatarsal	1	HEPHL1 CL E G H	341208	30477	OMIM:261990	PILI TORTI AND DEVELOPMENTAL DELAY
HP:0010743	HP:0004686	Short third metatarsal	1	HINT1 CL E G H	3094	4912	ORPHA:324442	Autosomal recessive axonal neuropathy with neuromyotonia	HP:0040284 - Very rare	12
HP:0010743	HP:0010105	Short first metatarsal	1	HOXA13 CL E G H	3209	5102	ORPHA:2438	Hand-foot-genital syndrome	HP:0040281 - Very frequent	11
HP:0010743	HP:0010105	Short first metatarsal	1	HOXA13 CL E G H	3209	5102	OMIM:140000	Hand-Foot-Genital syndrome	.	11
HP:0010743	HP:0004704	Short fifth metatarsal	1	HOXD13 CL E G H	3239	5136	ORPHA:93409	Brachydactyly-syndactyly, Zhao type	HP:0040281 - Very frequent	25
HP:0010743	HP:0004689	Short fourth metatarsal	1	LZTFL1 CL E G H	54585	6741	OMIM:615994	BARDET-BIEDL SYNDROME 17; BBS17		4
HP:0010743	HP:0004689	Short fourth metatarsal	1	PEX7 CL E G H	5191	8860	OMIM:266500	Refsum disease	.	72
HP:0010743	HP:0004689	Short fourth metatarsal	1	PHYH CL E G H	5264	8940	OMIM:266500	Refsum disease	.	45
HP:0010743	HP:0004689	Short fourth metatarsal	1	PIGS CL E G H	94005	14937	OMIM:618143	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0010743	HP:0004689	Short fourth metatarsal	1	PRMT7 CL E G H	54496	25557	ORPHA:464288	Short stature-brachydactyly-obesity-global developmental delay syndrome	HP:0040281 - Very frequent	6
HP:0010743	HP:0004704	Short fifth metatarsal	1	RIPK4 CL E G H	54101	496	ORPHA:1401	CHAND syndrome	HP:0040283 - Occasional	69
HP:0010743	HP:0004689	Short fourth metatarsal	1	RSPRY1 CL E G H	89970	29420	ORPHA:457395	Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome	HP:0040281 - Very frequent	2
HP:0010743	HP:0004704	Short fifth metatarsal	1	TCF4 CL E G H	6925	11634	OMIM:610954	Pitt-Hopkins syndrome		241
HP:0010743	HP:0004689	Short fourth metatarsal	1	TCF4 CL E G H	6925	11634	OMIM:610954	Pitt-Hopkins syndrome		241
HP:0010743	HP:0010105	Short first metatarsal	1	VPS35L CL E G H	57020	24641	OMIM:619135	RITSCHER-SCHINZEL SYNDROME 3; RTSC3
HP:0010743	HP:0004689	Short fourth metatarsal	1	ZNF407 CL E G H	55628	19904	OMIM:619557	SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES; SIMHA		68