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:0010621	HP:0010621	Cutaneous syndactyly of toes	0	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2		101
HP:0010621	HP:0010621	Cutaneous syndactyly of toes	0	CACNA1C CL E G H	775	1390	OMIM:620029			572
HP:0010621	HP:0010621	Cutaneous syndactyly of toes	0	CAMTA1 CL E G H	23261	18806	OMIM:614756	Cerebellar ataxia, nonprogressive, with mental retardation		34
HP:0010621	HP:0010621	Cutaneous syndactyly of toes	0	CREBBP CL E G H	1387	2348	OMIM:618332	MENKE-HENNEKAM SYNDROME 1; MKHK1		291
HP:0010621	HP:0010621	Cutaneous syndactyly of toes	0	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome		159
HP:0010621	HP:0010621	Cutaneous syndactyly of toes	0	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion		134
HP:0010621	HP:0010621	Cutaneous syndactyly of toes	0	EP300 CL E G H	2033	3373	OMIM:618333	MENKE-HENNEKAM SYNDROME 2; MKHK2		250
HP:0010621	HP:0010621	Cutaneous syndactyly of toes	0	FGF16 CL E G H	8823	3672	OMIM:309630	Metacarpal 4-5 fusion		3
HP:0010621	HP:0010621	Cutaneous syndactyly of toes	0	FGF9 CL E G H	2254	3687	OMIM:612961	Multiple synostoses syndrome 3	HP:0040284 - Very rare	75
HP:0010621	HP:0010621	Cutaneous syndactyly of toes	0	GJA1 CL E G H	2697	4274	OMIM:257850	Oculodentodigital dysplasia, autosomal recessive		68
HP:0010621	HP:0010621	Cutaneous syndactyly of toes	0	MAP3K20 CL E G H	51776	17797	ORPHA:488232	Split-foot malformation-mesoaxial polydactyly syndrome		2
HP:0010621	HP:0010621	Cutaneous syndactyly of toes	0	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q		3
HP:0010621	HP:0010621	Cutaneous syndactyly of toes	0	MECP2 CL E G H	4204	6990	OMIM:300260	Mental retardation, x-linked syndromic, Lubs type		950
HP:0010621	HP:0010621	Cutaneous syndactyly of toes	0	MYH8 CL E G H	4626	7578	OMIM:158300	Arthrogryposis, distal, type 7	.	93
HP:0010621	HP:0010621	Cutaneous syndactyly of toes	0	NECTIN1 CL E G H	5818	9706	OMIM:225060	Cleft lip/palate-ectodermal dysplasia syndrome	.	4
HP:0010621	HP:0010621	Cutaneous syndactyly of toes	0	NECTIN4 CL E G H	81607	19688	OMIM:613573	Ectodermal dysplasia-syndactyly syndrome 1		7
HP:0010621	HP:0010621	Cutaneous syndactyly of toes	0	NOG CL E G H	9241	7866	OMIM:611377	Brachydactyly, type B2		22
HP:0010621	HP:0010621	Cutaneous syndactyly of toes	0	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35		10
HP:0010621	HP:0010621	Cutaneous syndactyly of toes	0	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome		11
HP:0010621	HP:0010621	Cutaneous syndactyly of toes	0	SLC39A8 CL E G H	64116	20862	ORPHA:468699	SLC39A8-CDG	HP:0040283 - Occasional	11
HP:0010621	HP:0010621	Cutaneous syndactyly of toes	0	SMARCAD1 CL E G H	56916	18398	OMIM:129200	Basan syndrome	HP:0040283 - Occasional	6
HP:0010621	HP:0010621	Cutaneous syndactyly of toes	0	SVBP CL E G H	374969	29204	OMIM:618569	NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM
HP:0010621	HP:0010621	Cutaneous syndactyly of toes	0	TP63 CL E G H	8626	15979	OMIM:129400	Rapp-Hodgkin syndrome		140
HP:0010621	HP:0010621	Cutaneous syndactyly of toes	0	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism		2
HP:0010621	HP:0005709	2-3 toe cutaneous syndactyly	1	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2		101
HP:0010621	HP:0005709	2-3 toe cutaneous syndactyly	1	CACNA1C CL E G H	775	1390	OMIM:620029			572
HP:0010621	HP:0005709	2-3 toe cutaneous syndactyly	1	CAMTA1 CL E G H	23261	18806	OMIM:614756	Cerebellar ataxia, nonprogressive, with mental retardation		34
HP:0010621	HP:0005768	2-4 toe cutaneous syndactyly	1	CAMTA1 CL E G H	23261	18806	OMIM:614756	Cerebellar ataxia, nonprogressive, with mental retardation		34
HP:0010621	HP:0005709	2-3 toe cutaneous syndactyly	1	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome		159
HP:0010621	HP:0005768	2-4 toe cutaneous syndactyly	1	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion	HP:0040282 - Frequent	134
HP:0010621	HP:0005709	2-3 toe cutaneous syndactyly	1	FGF16 CL E G H	8823	3672	OMIM:309630	Metacarpal 4-5 fusion		3
HP:0010621	HP:0005768	2-4 toe cutaneous syndactyly	1	GJA1 CL E G H	2697	4274	OMIM:257850	Oculodentodigital dysplasia, autosomal recessive	.	68
HP:0010621	HP:0005767	1-2 toe complete cutaneous syndactyly	1	MAP3K20 CL E G H	51776	17797	ORPHA:488232	Split-foot malformation-mesoaxial polydactyly syndrome		2
HP:0010621	HP:0005709	2-3 toe cutaneous syndactyly	1	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q	HP:0040282 - Frequent	3
HP:0010621	HP:0005709	2-3 toe cutaneous syndactyly	1	MECP2 CL E G H	4204	6990	OMIM:300260	Mental retardation, x-linked syndromic, Lubs type		950
HP:0010621	HP:0005709	2-3 toe cutaneous syndactyly	1	NECTIN4 CL E G H	81607	19688	OMIM:613573	Ectodermal dysplasia-syndactyly syndrome 1	.	7
HP:0010621	HP:0005709	2-3 toe cutaneous syndactyly	1	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35		10
HP:0010621	HP:0005709	2-3 toe cutaneous syndactyly	1	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome		11
HP:0010621	HP:0005768	2-4 toe cutaneous syndactyly	1	SVBP CL E G H	374969	29204	OMIM:618569	NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM
HP:0010621	HP:0005709	2-3 toe cutaneous syndactyly	1	TP63 CL E G H	8626	15979	OMIM:129400	Rapp-Hodgkin syndrome		140
HP:0010621	HP:0005709	2-3 toe cutaneous syndactyly	1	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism		2