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:0010511	HP:0010511	Long toe	0	B4GALT7 CL E G H	11285	930	ORPHA:75496	B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome	HP:0040281 - Very frequent	29
HP:0010511	HP:0010511	Long toe	0	B4GALT7 CL E G H	11285	930	OMIM:130070	Ehlers-Danlos syndrome, spondylodysplastic type, 1	.	29
HP:0010511	HP:0010511	Long toe	0	COL12A1 CL E G H	1303	2188	ORPHA:75840	Congenital muscular dystrophy, Ullrich type	HP:0040282 - Frequent	65
HP:0010511	HP:0010511	Long toe	0	COL6A1 CL E G H	1291	2211	ORPHA:75840	Congenital muscular dystrophy, Ullrich type	HP:0040282 - Frequent	442
HP:0010511	HP:0010511	Long toe	0	COL6A2 CL E G H	1292	2212	ORPHA:75840	Congenital muscular dystrophy, Ullrich type	HP:0040282 - Frequent	478
HP:0010511	HP:0010511	Long toe	0	COL6A3 CL E G H	1293	2213	ORPHA:75840	Congenital muscular dystrophy, Ullrich type	HP:0040282 - Frequent	702
HP:0010511	HP:0010511	Long toe	0	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal	.	101
HP:0010511	HP:0010511	Long toe	0	DLK1 CL E G H	8788	2907	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion	HP:0040283 - Occasional	1
HP:0010511	HP:0010511	Long toe	0	DPM1 CL E G H	8813	3005	ORPHA:79322	DPM1-CDG		27
HP:0010511	HP:0010511	Long toe	0	FAM20C CL E G H	56975	22140	OMIM:259775	Raine syndrome		35
HP:0010511	HP:0010511	Long toe	0	FBN1 CL E G H	2200	3603	ORPHA:284979	Neonatal Marfan syndrome	HP:0040281 - Very frequent	1361
HP:0010511	HP:0010511	Long toe	0	FIBP CL E G H	9158	3705	ORPHA:500095	Tall stature-intellectual disability-renal anomalies syndrome		2
HP:0010511	HP:0010511	Long toe	0	FIBP CL E G H	9158	3705	OMIM:617107	Thauvin-Robinet-Faivre syndrome		2
HP:0010511	HP:0010511	Long toe	0	FLI1 CL E G H	2313	3749	ORPHA:2308	Jacobsen syndrome		8
HP:0010511	HP:0010511	Long toe	0	GATAD2B CL E G H	57459	30778	OMIM:615074	Mental retardation, autosomal dominant 18	.	33
HP:0010511	HP:0010511	Long toe	0	GATAD2B CL E G H	57459	30778	ORPHA:363686	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome	HP:0040283 - Occasional	33
HP:0010511	HP:0010511	Long toe	0	GNAI1 CL E G H	2770	4384	OMIM:619854
HP:0010511	HP:0010511	Long toe	0	GNE CL E G H	10020	23657	OMIM:269921	SIALURIA		173
HP:0010511	HP:0010511	Long toe	0	GNE CL E G H	10020	23657	ORPHA:3166	Sialuria		173
HP:0010511	HP:0010511	Long toe	0	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0010511	HP:0010511	Long toe	0	IRX5 CL E G H	10265	14361	OMIM:611174	Hamamy syndrome	HP:0040283 - Occasional	4
HP:0010511	HP:0010511	Long toe	0	KCNH1 CL E G H	3756	6250	ORPHA:420561	Temple-Baraitser syndrome		13
HP:0010511	HP:0010511	Long toe	0	KCNH1 CL E G H	3756	6250	OMIM:611816	Temple-Baraitser syndrome		13
HP:0010511	HP:0010511	Long toe	0	KCNN3 CL E G H	3782	6292	OMIM:618658	ZIMMERMANN-LABAND SYNDROME 3; ZLS3		7
HP:0010511	HP:0010511	Long toe	0	KMT5B CL E G H	51111	24283	OMIM:617788	Mental retardation, autosomal dominant 51		2
HP:0010511	HP:0010511	Long toe	0	LARS1 CL E G H	51520	6512	OMIM:615438	Infantile liver failure syndrome 1	HP:0040283 - Occasional
HP:0010511	HP:0010511	Long toe	0	MEG3 CL E G H	55384	14575	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion	HP:0040283 - Occasional	1
HP:0010511	HP:0010511	Long toe	0	NKX3-2 CL E G H	579	951	OMIM:613330	Spondylo-Megaepiphyseal-Metaphyseal dysplasia		10
HP:0010511	HP:0010511	Long toe	0	NPR2 CL E G H	4882	7944	OMIM:602875	Acromesomelic dysplasia, Maroteaux type		53
HP:0010511	HP:0010511	Long toe	0	NPR2 CL E G H	4882	7944	OMIM:615923	Epiphyseal chondrodysplasia, Miura type		53
HP:0010511	HP:0010511	Long toe	0	NPR3 CL E G H	4883	7945	OMIM:619543	BOUDIN-MORTIER SYNDROME; BOMOS
HP:0010511	HP:0010511	Long toe	0	NSDHL CL E G H	50814	13398	ORPHA:251383	CK syndrome	HP:0040281 - Very frequent	34
HP:0010511	HP:0010511	Long toe	0	PAPPA2 CL E G H	60676	14615	OMIM:619489	SHORT STATURE, DAUBER-ARGENTE TYPE; SSDA		2
HP:0010511	HP:0010511	Long toe	0	PHF8 CL E G H	23133	20672	OMIM:300263	Siderius X-linked mental retardation syndrome	.	23
HP:0010511	HP:0010511	Long toe	0	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040282 - Frequent	138
HP:0010511	HP:0010511	Long toe	0	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome	.	138
HP:0010511	HP:0010511	Long toe	0	POLR3GL CL E G H	84265	28466	OMIM:619234	SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM
HP:0010511	HP:0010511	Long toe	0	PRKAR1A CL E G H	5573	9388	OMIM:101800	Acrodysostosis 1, with or without hormone resistance		134
HP:0010511	HP:0010511	Long toe	0	PTH1R CL E G H	5745	9608	OMIM:600002	Eiken syndrome		58
HP:0010511	HP:0010511	Long toe	0	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome	HP:0040283 - Occasional	19
HP:0010511	HP:0010511	Long toe	0	RTL1 CL E G H	388015	14665	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion	HP:0040283 - Occasional
HP:0010511	HP:0010511	Long toe	0	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome		11
HP:0010511	HP:0010511	Long toe	0	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome		146
HP:0010511	HP:0010511	Long toe	0	SMS CL E G H	6611	11123	OMIM:309583	Mental retardation, X-linked, syndromic, Snyder-Robinson type		19
HP:0010511	HP:0010511	Long toe	0	SMS CL E G H	6611	11123	ORPHA:3063	X-linked intellectual disability, Snyder type	HP:0040282 - Frequent	19
HP:0010511	HP:0010511	Long toe	0	SOX5 CL E G H	6660	11201	OMIM:616803	Lamb-Shaffer syndrome		11
HP:0010511	HP:0010511	Long toe	0	TBX4 CL E G H	9496	11603	ORPHA:261279	17q23.1q23.2 microdeletion syndrome	HP:0040281 - Very frequent	55
HP:0010511	HP:0010511	Long toe	0	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies	.	1
HP:0010511	HP:0010511	Long toe	0	XYLT2 CL E G H	64132	15517	OMIM:605822	Spondyloocular syndrome	.	5
HP:0010511	HP:0010511	Long toe	0	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation	HP:0040283 - Occasional	362
HP:0010511	HP:0010511	Long toe	0	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22	HP:0040283 - Occasional	362
HP:0010511	HP:0001847	Long hallux	1	DPM1 CL E G H	8813	3005	ORPHA:79322	DPM1-CDG	HP:0040283 - Occasional	27
HP:0010511	HP:0001847	Long hallux	1	FAM20C CL E G H	56975	22140	OMIM:259775	Raine syndrome	HP:0040283 - Occasional	35
HP:0010511	HP:0001847	Long hallux	1	FIBP CL E G H	9158	3705	ORPHA:500095	Tall stature-intellectual disability-renal anomalies syndrome	HP:0040283 - Occasional	2
HP:0010511	HP:0001847	Long hallux	1	FIBP CL E G H	9158	3705	OMIM:617107	Thauvin-Robinet-Faivre syndrome	.	2
HP:0010511	HP:0001847	Long hallux	1	FLI1 CL E G H	2313	3749	ORPHA:2308	Jacobsen syndrome	HP:0040282 - Frequent	8
HP:0010511	HP:0001847	Long hallux	1	GNAI1 CL E G H	2770	4384	OMIM:619854
HP:0010511	HP:0001847	Long hallux	1	GNE CL E G H	10020	23657	OMIM:269921	SIALURIA	.	173
HP:0010511	HP:0001847	Long hallux	1	GNE CL E G H	10020	23657	ORPHA:3166	Sialuria	HP:0040281 - Very frequent	173
HP:0010511	HP:0001847	Long hallux	1	KCNH1 CL E G H	3756	6250	ORPHA:420561	Temple-Baraitser syndrome	HP:0040282 - Frequent	13
HP:0010511	HP:0001847	Long hallux	1	KCNH1 CL E G H	3756	6250	OMIM:611816	Temple-Baraitser syndrome		13
HP:0010511	HP:0001847	Long hallux	1	KCNN3 CL E G H	3782	6292	OMIM:618658	ZIMMERMANN-LABAND SYNDROME 3; ZLS3		7
HP:0010511	HP:0001847	Long hallux	1	NKX3-2 CL E G H	579	951	OMIM:613330	Spondylo-Megaepiphyseal-Metaphyseal dysplasia		10
HP:0010511	HP:0001847	Long hallux	1	NPR2 CL E G H	4882	7944	OMIM:602875	Acromesomelic dysplasia, Maroteaux type	.	53
HP:0010511	HP:0001847	Long hallux	1	NPR2 CL E G H	4882	7944	OMIM:615923	Epiphyseal chondrodysplasia, Miura type	.	53
HP:0010511	HP:0001847	Long hallux	1	NPR3 CL E G H	4883	7945	OMIM:619543	BOUDIN-MORTIER SYNDROME; BOMOS
HP:0010511	HP:0001847	Long hallux	1	POLR3GL CL E G H	84265	28466	OMIM:619234	SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM
HP:0010511	HP:0001847	Long hallux	1	PRKAR1A CL E G H	5573	9388	OMIM:101800	Acrodysostosis 1, with or without hormone resistance	.	134
HP:0010511	HP:0001847	Long hallux	1	PTH1R CL E G H	5745	9608	OMIM:600002	Eiken syndrome		58
HP:0010511	HP:0001847	Long hallux	1	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome	.	11
HP:0010511	HP:0001847	Long hallux	1	SMS CL E G H	6611	11123	OMIM:309583	Mental retardation, X-linked, syndromic, Snyder-Robinson type	.	19
HP:0010511	HP:0001847	Long hallux	1	SOX5 CL E G H	6660	11201	OMIM:616803	Lamb-Shaffer syndrome	HP:0040283 - Occasional	11
HP:0010511	HP:0001847	Long hallux	1	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation	HP:0040283 - Occasional	362
HP:0010511	HP:0001847	Long hallux	1	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22	HP:0040283 - Occasional	362