Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	Onset	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0010554	HP:0010554	Cutaneous finger syndactyly	0	CACNA1C CL E G H	775	1390	OMIM:620029				572
HP:0010554	HP:0010554	Cutaneous finger syndactyly	0	CCBE1 CL E G H	147372	29426	OMIM:235510	Hennekam lymphangiectasia-lymphedema syndrome	.		147
HP:0010554	HP:0010554	Cutaneous finger syndactyly	0	CDH11 CL E G H	1009	1750	OMIM:211380	Elsahy-Waters syndrome			2
HP:0010554	HP:0010554	Cutaneous finger syndactyly	0	CHSY1 CL E G H	22856	17198	ORPHA:363417	Temtamy preaxial brachydactyly syndrome	HP:0040283 - Occasional		16
HP:0010554	HP:0010554	Cutaneous finger syndactyly	0	CHUK CL E G H	1147	1974	OMIM:619339	BARTSOCAS-PAPAS SYNDROME 2; BPS2			3
HP:0010554	HP:0010554	Cutaneous finger syndactyly	0	DCHS1 CL E G H	8642	13681	OMIM:601390	Van maldergem syndrome 1	.		27
HP:0010554	HP:0010554	Cutaneous finger syndactyly	0	FAT4 CL E G H	79633	23109	OMIM:615546	Van maldergem syndrome 2	.		114
HP:0010554	HP:0010554	Cutaneous finger syndactyly	0	FGFR2 CL E G H	2263	3689	OMIM:101200	Apert syndrome	.		175
HP:0010554	HP:0010554	Cutaneous finger syndactyly	0	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome	.		353
HP:0010554	HP:0010554	Cutaneous finger syndactyly	0	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome			270
HP:0010554	HP:0010554	Cutaneous finger syndactyly	0	GLI3 CL E G H	2737	4319	ORPHA:93322	Tibial hemimelia	HP:0040283 - Occasional		270
HP:0010554	HP:0010554	Cutaneous finger syndactyly	0	H4C9 CL E G H	8294	4793	OMIM:619951
HP:0010554	HP:0010554	Cutaneous finger syndactyly	0	HOXD13 CL E G H	3239	5136	OMIM:186300	Syndactyly, type V	.		25
HP:0010554	HP:0010554	Cutaneous finger syndactyly	0	IRF6 CL E G H	3664	6121	OMIM:119500	Popliteal pterygium syndrome	.		99
HP:0010554	HP:0010554	Cutaneous finger syndactyly	0	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome			34
HP:0010554	HP:0010554	Cutaneous finger syndactyly	0	KCTD1 CL E G H	284252	18249	OMIM:181270	Scalp-Ear-Nipple syndrome			11
HP:0010554	HP:0010554	Cutaneous finger syndactyly	0	LEMD3 CL E G H	23592	28887	ORPHA:1306	Buschke-Ollendorff syndrome	HP:0040284 - Very rare		68
HP:0010554	HP:0010554	Cutaneous finger syndactyly	0	LMBR1 CL E G H	64327	13243	OMIM:186200	Syndactyly, type IV			106
HP:0010554	HP:0010554	Cutaneous finger syndactyly	0	LRP4 CL E G H	4038	6696	OMIM:614305	Sclerosteosis 2	.		124
HP:0010554	HP:0010554	Cutaneous finger syndactyly	0	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2	.		13
HP:0010554	HP:0010554	Cutaneous finger syndactyly	0	NECTIN1 CL E G H	5818	9706	OMIM:225060	Cleft lip/palate-ectodermal dysplasia syndrome	.		4
HP:0010554	HP:0010554	Cutaneous finger syndactyly	0	NECTIN4 CL E G H	81607	19688	OMIM:613573	Ectodermal dysplasia-syndactyly syndrome 1	.		7
HP:0010554	HP:0010554	Cutaneous finger syndactyly	0	NOG CL E G H	9241	7866	OMIM:611377	Brachydactyly, type B2			22
HP:0010554	HP:0010554	Cutaneous finger syndactyly	0	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1	.		22
HP:0010554	HP:0010554	Cutaneous finger syndactyly	0	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1	.		53
HP:0010554	HP:0010554	Cutaneous finger syndactyly	0	PAX3 CL E G H	5077	8617	ORPHA:896	Waardenburg syndrome type 3	HP:0040281 - Very frequent		59
HP:0010554	HP:0010554	Cutaneous finger syndactyly	0	PAX3 CL E G H	5077	8617	OMIM:148820	Waardenburg syndrome, type 3	.		59
HP:0010554	HP:0010554	Cutaneous finger syndactyly	0	PIEZO2 CL E G H	63895	26270	OMIM:114300	Arthrogryposis, distal, type 3	.		77
HP:0010554	HP:0010554	Cutaneous finger syndactyly	0	PPP2R3C CL E G H	55012	17485	OMIM:618419	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
HP:0010554	HP:0010554	Cutaneous finger syndactyly	0	ROR2 CL E G H	4920	10257	OMIM:113000	Brachydactyly, type B1	HP:0040283 - Occasional	HP:0003577 - Congenital onset	120
HP:0010554	HP:0010554	Cutaneous finger syndactyly	0	SETBP1 CL E G H	26040	15573	OMIM:616078	Mental retardation, autosomal dominant 29			143
HP:0010554	HP:0010554	Cutaneous finger syndactyly	0	TP63 CL E G H	8626	15979	ORPHA:69085	Limb-mammary syndrome			140
HP:0010554	HP:0010554	Cutaneous finger syndactyly	0	TWIST2 CL E G H	117581	20670	OMIM:200110	Ablepharon-Macrostomia syndrome			7
HP:0010554	HP:0010554	Cutaneous finger syndactyly	0	WDR19 CL E G H	57728	18340	OMIM:614378	Cranioectodermal dysplasia 4	HP:0040283 - Occasional		95
HP:0010554	HP:0011939	3-4 finger cutaneous syndactyly	1	CACNA1C CL E G H	775	1390	OMIM:620029				572
HP:0010554	HP:0005650	2-5 finger cutaneous syndactyly	1	CHUK CL E G H	1147	1974	OMIM:619339	BARTSOCAS-PAPAS SYNDROME 2; BPS2			3
HP:0010554	HP:0011939	3-4 finger cutaneous syndactyly	1	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome	HP:0040282 - Frequent		270
HP:0010554	HP:0011939	3-4 finger cutaneous syndactyly	1	H4C9 CL E G H	8294	4793	OMIM:619951
HP:0010554	HP:0011939	3-4 finger cutaneous syndactyly	1	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome			34
HP:0010554	HP:0011939	3-4 finger cutaneous syndactyly	1	KCTD1 CL E G H	284252	18249	OMIM:181270	Scalp-Ear-Nipple syndrome	.		11
HP:0010554	HP:0006088	1-5 finger complete cutaneous syndactyly	1	LMBR1 CL E G H	64327	13243	OMIM:186200	Syndactyly, type IV	.		106
HP:0010554	HP:0011939	3-4 finger cutaneous syndactyly	1	TP63 CL E G H	8626	15979	ORPHA:69085	Limb-mammary syndrome	HP:0040283 - Occasional		140