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:0100276	HP:0100276	Skin pit	0	ANK1 CL E G H	286	492	ORPHA:251066	8p11.2 deletion syndrome		150
HP:0100276	HP:0100276	Skin pit	0	ATP2A2 CL E G H	488	812	ORPHA:218	Darier disease		86
HP:0100276	HP:0100276	Skin pit	0	ATP2A2 CL E G H	488	812	OMIM:124200	Darier-White disease		86
HP:0100276	HP:0100276	Skin pit	0	AUTS2 CL E G H	26053	14262	ORPHA:352490	Autism spectrum disorder due to AUTS2 deficiency		61
HP:0100276	HP:0100276	Skin pit	0	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome		36
HP:0100276	HP:0100276	Skin pit	0	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome		36
HP:0100276	HP:0100276	Skin pit	0	CIB1 CL E G H	10519	16920	OMIM:618267	Epidermodysplasia verruciformis, susceptibility to, 3
HP:0100276	HP:0100276	Skin pit	0	CITED2 CL E G H	10370	1987	ORPHA:3303	Tetralogy of Fallot		5
HP:0100276	HP:0100276	Skin pit	0	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome		1
HP:0100276	HP:0100276	Skin pit	0	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0100276	HP:0100276	Skin pit	0	EDN1 CL E G H	1906	3176	ORPHA:137888	Auriculocondylar syndrome		6
HP:0100276	HP:0100276	Skin pit	0	EDNRA CL E G H	1909	3179	OMIM:616367	Mandibulofacial dysostosis with alopecia		3
HP:0100276	HP:0100276	Skin pit	0	EIF2AK3 CL E G H	9451	3255	OMIM:226980	Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus		65
HP:0100276	HP:0100276	Skin pit	0	EYA1 CL E G H	2138	3519	ORPHA:52429	Branchiootic syndrome		135
HP:0100276	HP:0100276	Skin pit	0	EYA1 CL E G H	2138	3519	OMIM:602588	Branchiootic syndrome 1		135
HP:0100276	HP:0100276	Skin pit	0	EYA1 CL E G H	2138	3519	OMIM:113650	Branchiootorenal syndrome 1		135
HP:0100276	HP:0100276	Skin pit	0	EYA1 CL E G H	2138	3519	ORPHA:2792	Otofaciocervical syndrome		135
HP:0100276	HP:0100276	Skin pit	0	EYA1 CL E G H	2138	3519	OMIM:166780	Otofaciocervical syndrome		135
HP:0100276	HP:0100276	Skin pit	0	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0100276	HP:0100276	Skin pit	0	FLNA CL E G H	2316	3754	ORPHA:88630	Terminal osseous dysplasia-pigmentary defects syndrome		493
HP:0100276	HP:0100276	Skin pit	0	FLT4 CL E G H	2324	3767	ORPHA:3303	Tetralogy of Fallot		90
HP:0100276	HP:0100276	Skin pit	0	GATA4 CL E G H	2626	4173	ORPHA:3303	Tetralogy of Fallot		87
HP:0100276	HP:0100276	Skin pit	0	GATA4 CL E G H	2626	4173	OMIM:187500	Tetralogy of Fallot		87
HP:0100276	HP:0100276	Skin pit	0	GATA5 CL E G H	140628	15802	ORPHA:3303	Tetralogy of Fallot		10
HP:0100276	HP:0100276	Skin pit	0	GATA6 CL E G H	2627	4174	ORPHA:3303	Tetralogy of Fallot		37
HP:0100276	HP:0100276	Skin pit	0	GATA6 CL E G H	2627	4174	OMIM:187500	Tetralogy of Fallot		37
HP:0100276	HP:0100276	Skin pit	0	GDF1 CL E G H	2657	4214	ORPHA:3303	Tetralogy of Fallot		28
HP:0100276	HP:0100276	Skin pit	0	GJA5 CL E G H	2702	4279	ORPHA:3303	Tetralogy of Fallot		39
HP:0100276	HP:0100276	Skin pit	0	GNAI3 CL E G H	2773	4387	ORPHA:137888	Auriculocondylar syndrome		2
HP:0100276	HP:0100276	Skin pit	0	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1		73
HP:0100276	HP:0100276	Skin pit	0	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0100276	HP:0100276	Skin pit	0	GRHL3 CL E G H	57822	25839	ORPHA:888	Van der Woude syndrome		12
HP:0100276	HP:0100276	Skin pit	0	GRHL3 CL E G H	57822	25839	OMIM:606713	Van der woude syndrome 2		12
HP:0100276	HP:0100276	Skin pit	0	GSC CL E G H	145258	4612	OMIM:602471	Short stature, auditory canal atresia, mandibular hypoplasia, andskeletal abnormalities		3
HP:0100276	HP:0100276	Skin pit	0	H4C9 CL E G H	8294	4793	OMIM:619951
HP:0100276	HP:0100276	Skin pit	0	HK1 CL E G H	3098	4922	OMIM:618547	NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES; NEDVIBA		11
HP:0100276	HP:0100276	Skin pit	0	HNRNPK CL E G H	3190	5044	ORPHA:352665	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion		8
HP:0100276	HP:0100276	Skin pit	0	HNRNPK CL E G H	3190	5044	ORPHA:453504	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation		8
HP:0100276	HP:0100276	Skin pit	0	IRF6 CL E G H	3664	6121	ORPHA:1300	Autosomal dominant popliteal pterygium syndrome		99
HP:0100276	HP:0100276	Skin pit	0	IRF6 CL E G H	3664	6121	ORPHA:141291	Cleft lip and alveolus		99
HP:0100276	HP:0100276	Skin pit	0	IRF6 CL E G H	3664	6121	OMIM:119500	Popliteal pterygium syndrome		99
HP:0100276	HP:0100276	Skin pit	0	IRF6 CL E G H	3664	6121	ORPHA:888	Van der Woude syndrome		99
HP:0100276	HP:0100276	Skin pit	0	IRF6 CL E G H	3664	6121	OMIM:119300	van der Woude syndrome 1		99
HP:0100276	HP:0100276	Skin pit	0	JAG1 CL E G H	182	6188	ORPHA:3303	Tetralogy of Fallot		257
HP:0100276	HP:0100276	Skin pit	0	JAG1 CL E G H	182	6188	OMIM:187500	Tetralogy of Fallot		257
HP:0100276	HP:0100276	Skin pit	0	KAT6A CL E G H	7994	13013	ORPHA:457193	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome		34
HP:0100276	HP:0100276	Skin pit	0	KCNJ2 CL E G H	3759	6263	OMIM:170390	Andersen cardiodysrhythmic periodic paralysis		193
HP:0100276	HP:0100276	Skin pit	0	KDM6A CL E G H	7403	12637	ORPHA:2322	Kabuki syndrome		53
HP:0100276	HP:0100276	Skin pit	0	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1		53
HP:0100276	HP:0100276	Skin pit	0	KDM6A CL E G H	7403	12637	OMIM:300867	Kabuki syndrome 2		53
HP:0100276	HP:0100276	Skin pit	0	KDR CL E G H	3791	6307	ORPHA:3303	Tetralogy of Fallot		40
HP:0100276	HP:0100276	Skin pit	0	KMT2D CL E G H	8085	7133	ORPHA:2322	Kabuki syndrome		660
HP:0100276	HP:0100276	Skin pit	0	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1		660
HP:0100276	HP:0100276	Skin pit	0	KRT5 CL E G H	3852	6442	ORPHA:79145	Dowling-Degos disease		173
HP:0100276	HP:0100276	Skin pit	0	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0100276	HP:0100276	Skin pit	0	LRP1 CL E G H	4035	6692	ORPHA:79100	Atrophoderma vermiculata	HP:0040281 - Very frequent	4
HP:0100276	HP:0100276	Skin pit	0	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR		228
HP:0100276	HP:0100276	Skin pit	0	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome		57
HP:0100276	HP:0100276	Skin pit	0	MITF CL E G H	4286	7105	OMIM:617306	Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness		91
HP:0100276	HP:0100276	Skin pit	0	MSX1 CL E G H	4487	7391	ORPHA:141291	Cleft lip and alveolus		12
HP:0100276	HP:0100276	Skin pit	0	NECTIN1 CL E G H	5818	9706	ORPHA:141291	Cleft lip and alveolus		4
HP:0100276	HP:0100276	Skin pit	0	NKX2-5 CL E G H	1482	2488	OMIM:187500	Tetralogy of Fallot		90
HP:0100276	HP:0100276	Skin pit	0	NKX2-5 CL E G H	1482	2488	ORPHA:3303	Tetralogy of Fallot		90
HP:0100276	HP:0100276	Skin pit	0	NKX2-6 CL E G H	137814	32940	ORPHA:3303	Tetralogy of Fallot		3
HP:0100276	HP:0100276	Skin pit	0	NPHP3 CL E G H	27031	7907	OMIM:208540	Renal-Hepatic-Pancreatic dysplasia		157
HP:0100276	HP:0100276	Skin pit	0	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome		118
HP:0100276	HP:0100276	Skin pit	0	OFD1 CL E G H	8481	2567	ORPHA:2750	Orofaciodigital syndrome type 1		201
HP:0100276	HP:0100276	Skin pit	0	PAX1 CL E G H	5075	8615	ORPHA:2792	Otofaciocervical syndrome		3
HP:0100276	HP:0100276	Skin pit	0	PAX1 CL E G H	5075	8615	OMIM:615560	Otofaciocervical syndrome 2		3
HP:0100276	HP:0100276	Skin pit	0	PLCB4 CL E G H	5332	9059	ORPHA:137888	Auriculocondylar syndrome		82
HP:0100276	HP:0100276	Skin pit	0	POFUT1 CL E G H	23509	14988	ORPHA:79145	Dowling-Degos disease		2
HP:0100276	HP:0100276	Skin pit	0	POGLUT1 CL E G H	56983	22954	ORPHA:79145	Dowling-Degos disease		6
HP:0100276	HP:0100276	Skin pit	0	POLR1D CL E G H	51082	20422	OMIM:613717	Treacher collins syndrome 2		31
HP:0100276	HP:0100276	Skin pit	0	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2		9
HP:0100276	HP:0100276	Skin pit	0	PSENEN CL E G H	55851	30100	ORPHA:79145	Dowling-Degos disease		2
HP:0100276	HP:0100276	Skin pit	0	PTCH1 CL E G H	5727	9585	OMIM:109400	Basal cell nevus syndrome		665
HP:0100276	HP:0100276	Skin pit	0	PTCH1 CL E G H	5727	9585	ORPHA:377	Gorlin syndrome		665
HP:0100276	HP:0100276	Skin pit	0	PTCH1 CL E G H	5727	9585	ORPHA:77301	Monosomy 9q22.3		665
HP:0100276	HP:0100276	Skin pit	0	PTCH2 CL E G H	8643	9586	OMIM:109400	Basal cell nevus syndrome		40
HP:0100276	HP:0100276	Skin pit	0	PTCH2 CL E G H	8643	9586	ORPHA:377	Gorlin syndrome		40
HP:0100276	HP:0100276	Skin pit	0	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1		31
HP:0100276	HP:0100276	Skin pit	0	RIPK4 CL E G H	54101	496	ORPHA:1401	CHAND syndrome		69
HP:0100276	HP:0100276	Skin pit	0	RIPK4 CL E G H	54101	496	OMIM:214350	CHANDS		69
HP:0100276	HP:0100276	Skin pit	0	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1		124
HP:0100276	HP:0100276	Skin pit	0	SIX1 CL E G H	6495	10887	ORPHA:52429	Branchiootic syndrome		50
HP:0100276	HP:0100276	Skin pit	0	SIX1 CL E G H	6495	10887	OMIM:608389	Branchiootic syndrome 3		50
HP:0100276	HP:0100276	Skin pit	0	SIX1 CL E G H	6495	10887	OMIM:113650	Branchiootorenal syndrome 1		50
HP:0100276	HP:0100276	Skin pit	0	SIX1 CL E G H	6495	10887	OMIM:605192	Deafness, autosomal dominant 23		50
HP:0100276	HP:0100276	Skin pit	0	SMO CL E G H	6608	11119	OMIM:601707	Curry-Jones syndrome		22
HP:0100276	HP:0100276	Skin pit	0	SPECC1L CL E G H	23384	29022	OMIM:145420	Hypertelorism, Teebi type		6
HP:0100276	HP:0100276	Skin pit	0	SPECC1L CL E G H	23384	29022	ORPHA:1519	SPECC1L-related hypertelorism syndrome		6
HP:0100276	HP:0100276	Skin pit	0	STAG2 CL E G H	10735	11355	OMIM:301022	Neurodevelopmental disorder, X-linked, with craniofacial abnormalities		1
HP:0100276	HP:0100276	Skin pit	0	SUFU CL E G H	51684	16466	OMIM:109400	Basal cell nevus syndrome		124
HP:0100276	HP:0100276	Skin pit	0	SUFU CL E G H	51684	16466	ORPHA:377	Gorlin syndrome		124
HP:0100276	HP:0100276	Skin pit	0	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82		1
HP:0100276	HP:0100276	Skin pit	0	TBX1 CL E G H	6899	11592	ORPHA:3303	Tetralogy of Fallot		32
HP:0100276	HP:0100276	Skin pit	0	TBX1 CL E G H	6899	11592	OMIM:187500	Tetralogy of Fallot		32
HP:0100276	HP:0100276	Skin pit	0	TFAP2A CL E G H	7020	11742	ORPHA:1297	Branchio-oculo-facial syndrome		12
HP:0100276	HP:0100276	Skin pit	0	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome		12
HP:0100276	HP:0100276	Skin pit	0	TP63 CL E G H	8626	15979	ORPHA:1072	Ankyloblepharon filiforme adnatum-cleft palate syndrome		140
HP:0100276	HP:0100276	Skin pit	0	TP63 CL E G H	8626	15979	ORPHA:141291	Cleft lip and alveolus		140
HP:0100276	HP:0100276	Skin pit	0	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type		7
HP:0100276	HP:0100276	Skin pit	0	WBP11 CL E G H	51729	16461	OMIM:619227	VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS; VCTERL
HP:0100276	HP:0100276	Skin pit	0	XYLT2 CL E G H	64132	15517	ORPHA:85194	Spondylo-ocular syndrome		5
HP:0100276	HP:0100276	Skin pit	0	ZFPM2 CL E G H	23414	16700	ORPHA:3303	Tetralogy of Fallot		31
HP:0100276	HP:0100276	Skin pit	0	ZFPM2 CL E G H	23414	16700	OMIM:187500	Tetralogy of Fallot		31
HP:0100276	HP:0100276	Skin pit	0	ZNF462 CL E G H	58499	21684	OMIM:618619	WEISS-KRUSZKA SYNDROME; WSKA		4
HP:0100276	HP:0100277	Periauricular skin pits	1	ANK1 CL E G H	286	492	ORPHA:251066	8p11.2 deletion syndrome		150
HP:0100276	HP:0010612	Plantar pits	1	ATP2A2 CL E G H	488	812	ORPHA:218	Darier disease	HP:0040282 - Frequent	86
HP:0100276	HP:0010612	Plantar pits	1	ATP2A2 CL E G H	488	812	OMIM:124200	Darier-White disease	.	86
HP:0100276	HP:0010610	Palmar pits	1	ATP2A2 CL E G H	488	812	OMIM:124200	Darier-White disease	.	86
HP:0100276	HP:0100277	Periauricular skin pits	1	AUTS2 CL E G H	26053	14262	ORPHA:352490	Autism spectrum disorder due to AUTS2 deficiency	HP:0040283 - Occasional	61
HP:0100276	HP:0100277	Periauricular skin pits	1	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome		36
HP:0100276	HP:0100277	Periauricular skin pits	1	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome		36
HP:0100276	HP:0010610	Palmar pits	1	CIB1 CL E G H	10519	16920	OMIM:618267	Epidermodysplasia verruciformis, susceptibility to, 3	HP:0040284 - Very rare
HP:0100276	HP:0100277	Periauricular skin pits	1	CITED2 CL E G H	10370	1987	ORPHA:3303	Tetralogy of Fallot		5
HP:0100276	HP:0100277	Periauricular skin pits	1	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome		1
HP:0100276	HP:0100277	Periauricular skin pits	1	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0100276	HP:0100277	Periauricular skin pits	1	EDN1 CL E G H	1906	3176	ORPHA:137888	Auriculocondylar syndrome	HP:0040282 - Frequent	6
HP:0100276	HP:0100277	Periauricular skin pits	1	EDNRA CL E G H	1909	3179	OMIM:616367	Mandibulofacial dysostosis with alopecia		3
HP:0100276	HP:0100277	Periauricular skin pits	1	EIF2AK3 CL E G H	9451	3255	OMIM:226980	Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus		65
HP:0100276	HP:0100277	Periauricular skin pits	1	EYA1 CL E G H	2138	3519	ORPHA:52429	Branchiootic syndrome		135
HP:0100276	HP:0100267	Lip pit	1	EYA1 CL E G H	2138	3519	ORPHA:52429	Branchiootic syndrome	HP:0040283 - Occasional	135
HP:0100276	HP:0100277	Periauricular skin pits	1	EYA1 CL E G H	2138	3519	OMIM:602588	Branchiootic syndrome 1		135
HP:0100276	HP:0100277	Periauricular skin pits	1	EYA1 CL E G H	2138	3519	OMIM:113650	Branchiootorenal syndrome 1		135
HP:0100276	HP:0100277	Periauricular skin pits	1	EYA1 CL E G H	2138	3519	OMIM:166780	Otofaciocervical syndrome		135
HP:0100276	HP:0100277	Periauricular skin pits	1	EYA1 CL E G H	2138	3519	ORPHA:2792	Otofaciocervical syndrome		135
HP:0100276	HP:0100277	Periauricular skin pits	1	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0100276	HP:0100277	Periauricular skin pits	1	FLNA CL E G H	2316	3754	ORPHA:88630	Terminal osseous dysplasia-pigmentary defects syndrome		493
HP:0100276	HP:0100277	Periauricular skin pits	1	FLT4 CL E G H	2324	3767	ORPHA:3303	Tetralogy of Fallot		90
HP:0100276	HP:0100277	Periauricular skin pits	1	GATA4 CL E G H	2626	4173	OMIM:187500	Tetralogy of Fallot		87
HP:0100276	HP:0100277	Periauricular skin pits	1	GATA4 CL E G H	2626	4173	ORPHA:3303	Tetralogy of Fallot		87
HP:0100276	HP:0100277	Periauricular skin pits	1	GATA5 CL E G H	140628	15802	ORPHA:3303	Tetralogy of Fallot		10
HP:0100276	HP:0100277	Periauricular skin pits	1	GATA6 CL E G H	2627	4174	ORPHA:3303	Tetralogy of Fallot		37
HP:0100276	HP:0100277	Periauricular skin pits	1	GATA6 CL E G H	2627	4174	OMIM:187500	Tetralogy of Fallot		37
HP:0100276	HP:0100277	Periauricular skin pits	1	GDF1 CL E G H	2657	4214	ORPHA:3303	Tetralogy of Fallot		28
HP:0100276	HP:0100277	Periauricular skin pits	1	GJA5 CL E G H	2702	4279	ORPHA:3303	Tetralogy of Fallot		39
HP:0100276	HP:0100277	Periauricular skin pits	1	GNAI3 CL E G H	2773	4387	ORPHA:137888	Auriculocondylar syndrome	HP:0040282 - Frequent	2
HP:0100276	HP:0100277	Periauricular skin pits	1	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1		73
HP:0100276	HP:0100277	Periauricular skin pits	1	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0100276	HP:0100267	Lip pit	1	GRHL3 CL E G H	57822	25839	ORPHA:888	Van der Woude syndrome	HP:0040281 - Very frequent	12
HP:0100276	HP:0100267	Lip pit	1	GRHL3 CL E G H	57822	25839	OMIM:606713	Van der woude syndrome 2		12
HP:0100276	HP:0100277	Periauricular skin pits	1	GSC CL E G H	145258	4612	OMIM:602471	Short stature, auditory canal atresia, mandibular hypoplasia, andskeletal abnormalities		3
HP:0100276	HP:0100277	Periauricular skin pits	1	H4C9 CL E G H	8294	4793	OMIM:619951
HP:0100276	HP:0100277	Periauricular skin pits	1	HK1 CL E G H	3098	4922	OMIM:618547	NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES; NEDVIBA		11
HP:0100276	HP:0100277	Periauricular skin pits	1	HNRNPK CL E G H	3190	5044	ORPHA:352665	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion		8
HP:0100276	HP:0100277	Periauricular skin pits	1	HNRNPK CL E G H	3190	5044	ORPHA:453504	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation		8
HP:0100276	HP:0100267	Lip pit	1	IRF6 CL E G H	3664	6121	ORPHA:1300	Autosomal dominant popliteal pterygium syndrome	HP:0040282 - Frequent	99
HP:0100276	HP:0100267	Lip pit	1	IRF6 CL E G H	3664	6121	ORPHA:141291	Cleft lip and alveolus	HP:0040281 - Very frequent	99
HP:0100276	HP:0100267	Lip pit	1	IRF6 CL E G H	3664	6121	OMIM:119500	Popliteal pterygium syndrome		99
HP:0100276	HP:0100267	Lip pit	1	IRF6 CL E G H	3664	6121	ORPHA:888	Van der Woude syndrome	HP:0040281 - Very frequent	99
HP:0100276	HP:0100267	Lip pit	1	IRF6 CL E G H	3664	6121	OMIM:119300	van der Woude syndrome 1		99
HP:0100276	HP:0100277	Periauricular skin pits	1	JAG1 CL E G H	182	6188	OMIM:187500	Tetralogy of Fallot		257
HP:0100276	HP:0100277	Periauricular skin pits	1	JAG1 CL E G H	182	6188	ORPHA:3303	Tetralogy of Fallot		257
HP:0100276	HP:0100277	Periauricular skin pits	1	KAT6A CL E G H	7994	13013	ORPHA:457193	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome		34
HP:0100276	HP:0100277	Periauricular skin pits	1	KCNJ2 CL E G H	3759	6263	OMIM:170390	Andersen cardiodysrhythmic periodic paralysis		193
HP:0100276	HP:0100267	Lip pit	1	KDM6A CL E G H	7403	12637	ORPHA:2322	Kabuki syndrome	HP:0040283 - Occasional	53
HP:0100276	HP:0100277	Periauricular skin pits	1	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1		53
HP:0100276	HP:0100267	Lip pit	1	KDM6A CL E G H	7403	12637	OMIM:300867	Kabuki syndrome 2		53
HP:0100276	HP:0100277	Periauricular skin pits	1	KDR CL E G H	3791	6307	ORPHA:3303	Tetralogy of Fallot		40
HP:0100276	HP:0100267	Lip pit	1	KMT2D CL E G H	8085	7133	ORPHA:2322	Kabuki syndrome	HP:0040283 - Occasional	660
HP:0100276	HP:0100277	Periauricular skin pits	1	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1		660
HP:0100276	HP:0031293	Digital pitting scar	1	KRT5 CL E G H	3852	6442	ORPHA:79145	Dowling-Degos disease	HP:0040283 - Occasional	173
HP:0100276	HP:0010610	Palmar pits	1	KRT5 CL E G H	3852	6442	ORPHA:79145	Dowling-Degos disease	HP:0040284 - Very rare	173
HP:0100276	HP:0100277	Periauricular skin pits	1	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0100276	HP:0100277	Periauricular skin pits	1	LRP1 CL E G H	4035	6692	ORPHA:79100	Atrophoderma vermiculata	HP:0040282 - Frequent	4
HP:0100276	HP:0100277	Periauricular skin pits	1	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR		228
HP:0100276	HP:0100277	Periauricular skin pits	1	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome		57
HP:0100276	HP:0100277	Periauricular skin pits	1	MITF CL E G H	4286	7105	OMIM:617306	Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness		91
HP:0100276	HP:0100267	Lip pit	1	MSX1 CL E G H	4487	7391	ORPHA:141291	Cleft lip and alveolus	HP:0040281 - Very frequent	12
HP:0100276	HP:0100267	Lip pit	1	NECTIN1 CL E G H	5818	9706	ORPHA:141291	Cleft lip and alveolus	HP:0040281 - Very frequent	4
HP:0100276	HP:0100277	Periauricular skin pits	1	NKX2-5 CL E G H	1482	2488	ORPHA:3303	Tetralogy of Fallot		90
HP:0100276	HP:0100277	Periauricular skin pits	1	NKX2-5 CL E G H	1482	2488	OMIM:187500	Tetralogy of Fallot		90
HP:0100276	HP:0100277	Periauricular skin pits	1	NKX2-6 CL E G H	137814	32940	ORPHA:3303	Tetralogy of Fallot		3
HP:0100276	HP:0100277	Periauricular skin pits	1	NPHP3 CL E G H	27031	7907	OMIM:208540	Renal-Hepatic-Pancreatic dysplasia		157
HP:0100276	HP:0100277	Periauricular skin pits	1	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome		118
HP:0100276	HP:0100267	Lip pit	1	OFD1 CL E G H	8481	2567	ORPHA:2750	Orofaciodigital syndrome type 1	HP:0040283 - Occasional	201
HP:0100276	HP:0100277	Periauricular skin pits	1	PAX1 CL E G H	5075	8615	ORPHA:2792	Otofaciocervical syndrome		3
HP:0100276	HP:0100277	Periauricular skin pits	1	PAX1 CL E G H	5075	8615	OMIM:615560	Otofaciocervical syndrome 2		3
HP:0100276	HP:0100277	Periauricular skin pits	1	PLCB4 CL E G H	5332	9059	ORPHA:137888	Auriculocondylar syndrome	HP:0040282 - Frequent	82
HP:0100276	HP:0010610	Palmar pits	1	POFUT1 CL E G H	23509	14988	ORPHA:79145	Dowling-Degos disease	HP:0040284 - Very rare	2
HP:0100276	HP:0031293	Digital pitting scar	1	POFUT1 CL E G H	23509	14988	ORPHA:79145	Dowling-Degos disease	HP:0040283 - Occasional	2
HP:0100276	HP:0031293	Digital pitting scar	1	POGLUT1 CL E G H	56983	22954	ORPHA:79145	Dowling-Degos disease	HP:0040283 - Occasional	6
HP:0100276	HP:0010610	Palmar pits	1	POGLUT1 CL E G H	56983	22954	ORPHA:79145	Dowling-Degos disease	HP:0040284 - Very rare	6
HP:0100276	HP:0100277	Periauricular skin pits	1	POLR1D CL E G H	51082	20422	OMIM:613717	Treacher collins syndrome 2		31
HP:0100276	HP:0100277	Periauricular skin pits	1	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2		9
HP:0100276	HP:0031293	Digital pitting scar	1	PSENEN CL E G H	55851	30100	ORPHA:79145	Dowling-Degos disease	HP:0040283 - Occasional	2
HP:0100276	HP:0010610	Palmar pits	1	PSENEN CL E G H	55851	30100	ORPHA:79145	Dowling-Degos disease	HP:0040284 - Very rare	2
HP:0100276	HP:0010610	Palmar pits	1	PTCH1 CL E G H	5727	9585	OMIM:109400	Basal cell nevus syndrome		665
HP:0100276	HP:0010612	Plantar pits	1	PTCH1 CL E G H	5727	9585	OMIM:109400	Basal cell nevus syndrome		665
HP:0100276	HP:0010612	Plantar pits	1	PTCH1 CL E G H	5727	9585	ORPHA:377	Gorlin syndrome	HP:0040281 - Very frequent	665
HP:0100276	HP:0010610	Palmar pits	1	PTCH1 CL E G H	5727	9585	ORPHA:377	Gorlin syndrome	HP:0040281 - Very frequent	665
HP:0100276	HP:0010612	Plantar pits	1	PTCH1 CL E G H	5727	9585	ORPHA:77301	Monosomy 9q22.3	HP:0040281 - Very frequent	665
HP:0100276	HP:0010610	Palmar pits	1	PTCH1 CL E G H	5727	9585	ORPHA:77301	Monosomy 9q22.3	HP:0040281 - Very frequent	665
HP:0100276	HP:0010610	Palmar pits	1	PTCH2 CL E G H	8643	9586	OMIM:109400	Basal cell nevus syndrome		40
HP:0100276	HP:0010612	Plantar pits	1	PTCH2 CL E G H	8643	9586	OMIM:109400	Basal cell nevus syndrome		40
HP:0100276	HP:0010610	Palmar pits	1	PTCH2 CL E G H	8643	9586	ORPHA:377	Gorlin syndrome	HP:0040281 - Very frequent	40
HP:0100276	HP:0010612	Plantar pits	1	PTCH2 CL E G H	8643	9586	ORPHA:377	Gorlin syndrome	HP:0040281 - Very frequent	40
HP:0100276	HP:0100277	Periauricular skin pits	1	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1		31
HP:0100276	HP:0100267	Lip pit	1	RIPK4 CL E G H	54101	496	ORPHA:1401	CHAND syndrome		69
HP:0100276	HP:0100267	Lip pit	1	RIPK4 CL E G H	54101	496	OMIM:214350	CHANDS		69
HP:0100276	HP:0100277	Periauricular skin pits	1	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1		124
HP:0100276	HP:0100267	Lip pit	1	SIX1 CL E G H	6495	10887	ORPHA:52429	Branchiootic syndrome	HP:0040283 - Occasional	50
HP:0100276	HP:0100277	Periauricular skin pits	1	SIX1 CL E G H	6495	10887	ORPHA:52429	Branchiootic syndrome		50
HP:0100276	HP:0100267	Lip pit	1	SIX1 CL E G H	6495	10887	OMIM:608389	Branchiootic syndrome 3		50
HP:0100276	HP:0100277	Periauricular skin pits	1	SIX1 CL E G H	6495	10887	OMIM:608389	Branchiootic syndrome 3		50
HP:0100276	HP:0100277	Periauricular skin pits	1	SIX1 CL E G H	6495	10887	OMIM:113650	Branchiootorenal syndrome 1		50
HP:0100276	HP:0100277	Periauricular skin pits	1	SIX1 CL E G H	6495	10887	OMIM:605192	Deafness, autosomal dominant 23		50
HP:0100276	HP:0100267	Lip pit	1	SMO CL E G H	6608	11119	OMIM:601707	Curry-Jones syndrome		22
HP:0100276	HP:0100277	Periauricular skin pits	1	SPECC1L CL E G H	23384	29022	OMIM:145420	Hypertelorism, Teebi type		6
HP:0100276	HP:0100277	Periauricular skin pits	1	SPECC1L CL E G H	23384	29022	ORPHA:1519	SPECC1L-related hypertelorism syndrome		6
HP:0100276	HP:0100277	Periauricular skin pits	1	STAG2 CL E G H	10735	11355	OMIM:301022	Neurodevelopmental disorder, X-linked, with craniofacial abnormalities		1
HP:0100276	HP:0010610	Palmar pits	1	SUFU CL E G H	51684	16466	OMIM:109400	Basal cell nevus syndrome		124
HP:0100276	HP:0010612	Plantar pits	1	SUFU CL E G H	51684	16466	OMIM:109400	Basal cell nevus syndrome		124
HP:0100276	HP:0010610	Palmar pits	1	SUFU CL E G H	51684	16466	ORPHA:377	Gorlin syndrome	HP:0040281 - Very frequent	124
HP:0100276	HP:0010612	Plantar pits	1	SUFU CL E G H	51684	16466	ORPHA:377	Gorlin syndrome	HP:0040281 - Very frequent	124
HP:0100276	HP:0100277	Periauricular skin pits	1	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82		1
HP:0100276	HP:0100277	Periauricular skin pits	1	TBX1 CL E G H	6899	11592	OMIM:187500	Tetralogy of Fallot		32
HP:0100276	HP:0100277	Periauricular skin pits	1	TBX1 CL E G H	6899	11592	ORPHA:3303	Tetralogy of Fallot		32
HP:0100276	HP:0100267	Lip pit	1	TFAP2A CL E G H	7020	11742	ORPHA:1297	Branchio-oculo-facial syndrome		12
HP:0100276	HP:0100277	Periauricular skin pits	1	TFAP2A CL E G H	7020	11742	ORPHA:1297	Branchio-oculo-facial syndrome		12
HP:0100276	HP:0100277	Periauricular skin pits	1	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome		12
HP:0100276	HP:0100267	Lip pit	1	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome		12
HP:0100276	HP:0100267	Lip pit	1	TP63 CL E G H	8626	15979	ORPHA:1072	Ankyloblepharon filiforme adnatum-cleft palate syndrome	HP:0040283 - Occasional	140
HP:0100276	HP:0100267	Lip pit	1	TP63 CL E G H	8626	15979	ORPHA:141291	Cleft lip and alveolus	HP:0040281 - Very frequent	140
HP:0100276	HP:0100277	Periauricular skin pits	1	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type		7
HP:0100276	HP:0100277	Periauricular skin pits	1	WBP11 CL E G H	51729	16461	OMIM:619227	VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS; VCTERL
HP:0100276	HP:0100277	Periauricular skin pits	1	XYLT2 CL E G H	64132	15517	ORPHA:85194	Spondylo-ocular syndrome		5
HP:0100276	HP:0100277	Periauricular skin pits	1	ZFPM2 CL E G H	23414	16700	ORPHA:3303	Tetralogy of Fallot		31
HP:0100276	HP:0100277	Periauricular skin pits	1	ZFPM2 CL E G H	23414	16700	OMIM:187500	Tetralogy of Fallot		31
HP:0100276	HP:0100277	Periauricular skin pits	1	ZNF462 CL E G H	58499	21684	OMIM:618619	WEISS-KRUSZKA SYNDROME; WSKA		4
HP:0100276	HP:0004467	Preauricular pit	2	ANK1 CL E G H	286	492	ORPHA:251066	8p11.2 deletion syndrome	HP:0040282 - Frequent	150
HP:0100276	HP:0004467	Preauricular pit	2	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome	HP:0040282 - Frequent	36
HP:0100276	HP:0004467	Preauricular pit	2	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome	.	36
HP:0100276	HP:0004467	Preauricular pit	2	CITED2 CL E G H	10370	1987	ORPHA:3303	Tetralogy of Fallot	HP:0040282 - Frequent	5
HP:0100276	HP:0004467	Preauricular pit	2	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome		1
HP:0100276	HP:0004467	Preauricular pit	2	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0100276	HP:0004467	Preauricular pit	2	EDNRA CL E G H	1909	3179	OMIM:616367	Mandibulofacial dysostosis with alopecia	HP:0040283 - Occasional	3
HP:0100276	HP:0004467	Preauricular pit	2	EIF2AK3 CL E G H	9451	3255	OMIM:226980	Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus	.	65
HP:0100276	HP:0004467	Preauricular pit	2	EYA1 CL E G H	2138	3519	ORPHA:52429	Branchiootic syndrome	HP:0040281 - Very frequent	135
HP:0100276	HP:0004467	Preauricular pit	2	EYA1 CL E G H	2138	3519	OMIM:602588	Branchiootic syndrome 1	.	135
HP:0100276	HP:0004467	Preauricular pit	2	EYA1 CL E G H	2138	3519	OMIM:113650	Branchiootorenal syndrome 1		135
HP:0100276	HP:0004467	Preauricular pit	2	EYA1 CL E G H	2138	3519	OMIM:166780	Otofaciocervical syndrome	.	135
HP:0100276	HP:0004467	Preauricular pit	2	EYA1 CL E G H	2138	3519	ORPHA:2792	Otofaciocervical syndrome	HP:0040281 - Very frequent	135
HP:0100276	HP:0004467	Preauricular pit	2	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0100276	HP:0004467	Preauricular pit	2	FLNA CL E G H	2316	3754	ORPHA:88630	Terminal osseous dysplasia-pigmentary defects syndrome		493
HP:0100276	HP:0004467	Preauricular pit	2	FLT4 CL E G H	2324	3767	ORPHA:3303	Tetralogy of Fallot	HP:0040282 - Frequent	90
HP:0100276	HP:0004467	Preauricular pit	2	GATA4 CL E G H	2626	4173	ORPHA:3303	Tetralogy of Fallot	HP:0040282 - Frequent	87
HP:0100276	HP:0004467	Preauricular pit	2	GATA4 CL E G H	2626	4173	OMIM:187500	Tetralogy of Fallot	.	87
HP:0100276	HP:0004467	Preauricular pit	2	GATA5 CL E G H	140628	15802	ORPHA:3303	Tetralogy of Fallot	HP:0040282 - Frequent	10
HP:0100276	HP:0004467	Preauricular pit	2	GATA6 CL E G H	2627	4174	ORPHA:3303	Tetralogy of Fallot	HP:0040282 - Frequent	37
HP:0100276	HP:0004467	Preauricular pit	2	GATA6 CL E G H	2627	4174	OMIM:187500	Tetralogy of Fallot	.	37
HP:0100276	HP:0004467	Preauricular pit	2	GDF1 CL E G H	2657	4214	ORPHA:3303	Tetralogy of Fallot	HP:0040282 - Frequent	28
HP:0100276	HP:0004467	Preauricular pit	2	GJA5 CL E G H	2702	4279	ORPHA:3303	Tetralogy of Fallot	HP:0040282 - Frequent	39
HP:0100276	HP:0004467	Preauricular pit	2	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1		73
HP:0100276	HP:0004464	Postauricular pit	2	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1		73
HP:0100276	HP:0004467	Preauricular pit	2	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0100276	HP:0004464	Postauricular pit	2	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0100276	HP:0100269	Paramedian lip pit	2	GRHL3 CL E G H	57822	25839	ORPHA:888	Van der Woude syndrome		12
HP:0100276	HP:0004467	Preauricular pit	2	GSC CL E G H	145258	4612	OMIM:602471	Short stature, auditory canal atresia, mandibular hypoplasia, andskeletal abnormalities	.	3
HP:0100276	HP:0004467	Preauricular pit	2	H4C9 CL E G H	8294	4793	OMIM:619951
HP:0100276	HP:0004467	Preauricular pit	2	HK1 CL E G H	3098	4922	OMIM:618547	NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES; NEDVIBA		11
HP:0100276	HP:0004467	Preauricular pit	2	HNRNPK CL E G H	3190	5044	ORPHA:352665	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion	HP:0040283 - Occasional	8
HP:0100276	HP:0004467	Preauricular pit	2	HNRNPK CL E G H	3190	5044	ORPHA:453504	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation	HP:0040283 - Occasional	8
HP:0100276	HP:0100269	Paramedian lip pit	2	IRF6 CL E G H	3664	6121	OMIM:119500	Popliteal pterygium syndrome		99
HP:0100276	HP:0100269	Paramedian lip pit	2	IRF6 CL E G H	3664	6121	ORPHA:888	Van der Woude syndrome		99
HP:0100276	HP:0100269	Paramedian lip pit	2	IRF6 CL E G H	3664	6121	OMIM:119300	van der Woude syndrome 1		99
HP:0100276	HP:0004467	Preauricular pit	2	JAG1 CL E G H	182	6188	ORPHA:3303	Tetralogy of Fallot	HP:0040282 - Frequent	257
HP:0100276	HP:0004467	Preauricular pit	2	JAG1 CL E G H	182	6188	OMIM:187500	Tetralogy of Fallot	.	257
HP:0100276	HP:0004467	Preauricular pit	2	KAT6A CL E G H	7994	13013	ORPHA:457193	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	HP:0040283 - Occasional	34
HP:0100276	HP:0004467	Preauricular pit	2	KCNJ2 CL E G H	3759	6263	OMIM:170390	Andersen cardiodysrhythmic periodic paralysis	.	193
HP:0100276	HP:0004467	Preauricular pit	2	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1	.	53
HP:0100276	HP:0100269	Paramedian lip pit	2	KDM6A CL E G H	7403	12637	OMIM:300867	Kabuki syndrome 2		53
HP:0100276	HP:0004467	Preauricular pit	2	KDR CL E G H	3791	6307	ORPHA:3303	Tetralogy of Fallot	HP:0040282 - Frequent	40
HP:0100276	HP:0004467	Preauricular pit	2	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1	.	660
HP:0100276	HP:0004467	Preauricular pit	2	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0100276	HP:0004467	Preauricular pit	2	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR		228
HP:0100276	HP:0004467	Preauricular pit	2	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome	HP:0040283 - Occasional	57
HP:0100276	HP:0004467	Preauricular pit	2	MITF CL E G H	4286	7105	OMIM:617306	Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness	.	91
HP:0100276	HP:0004467	Preauricular pit	2	NKX2-5 CL E G H	1482	2488	OMIM:187500	Tetralogy of Fallot	.	90
HP:0100276	HP:0004467	Preauricular pit	2	NKX2-5 CL E G H	1482	2488	ORPHA:3303	Tetralogy of Fallot	HP:0040282 - Frequent	90
HP:0100276	HP:0004467	Preauricular pit	2	NKX2-6 CL E G H	137814	32940	ORPHA:3303	Tetralogy of Fallot	HP:0040282 - Frequent	3
HP:0100276	HP:0004467	Preauricular pit	2	NPHP3 CL E G H	27031	7907	OMIM:208540	Renal-Hepatic-Pancreatic dysplasia		157
HP:0100276	HP:0004467	Preauricular pit	2	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome		118
HP:0100276	HP:0004467	Preauricular pit	2	PAX1 CL E G H	5075	8615	ORPHA:2792	Otofaciocervical syndrome	HP:0040281 - Very frequent	3
HP:0100276	HP:0004467	Preauricular pit	2	PAX1 CL E G H	5075	8615	OMIM:615560	Otofaciocervical syndrome 2		3
HP:0100276	HP:0004467	Preauricular pit	2	POLR1D CL E G H	51082	20422	OMIM:613717	Treacher collins syndrome 2		31
HP:0100276	HP:0004467	Preauricular pit	2	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2		9
HP:0100276	HP:0004467	Preauricular pit	2	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1		31
HP:0100276	HP:0002710	Commissural lip pit	2	RIPK4 CL E G H	54101	496	ORPHA:1401	CHAND syndrome	HP:0040282 - Frequent	69
HP:0100276	HP:0002710	Commissural lip pit	2	RIPK4 CL E G H	54101	496	OMIM:214350	CHANDS	.	69
HP:0100276	HP:0004467	Preauricular pit	2	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1	.	124
HP:0100276	HP:0004467	Preauricular pit	2	SIX1 CL E G H	6495	10887	ORPHA:52429	Branchiootic syndrome	HP:0040281 - Very frequent	50
HP:0100276	HP:0004467	Preauricular pit	2	SIX1 CL E G H	6495	10887	OMIM:608389	Branchiootic syndrome 3		50
HP:0100276	HP:0002710	Commissural lip pit	2	SIX1 CL E G H	6495	10887	OMIM:608389	Branchiootic syndrome 3		50
HP:0100276	HP:0004467	Preauricular pit	2	SIX1 CL E G H	6495	10887	OMIM:113650	Branchiootorenal syndrome 1		50
HP:0100276	HP:0004467	Preauricular pit	2	SIX1 CL E G H	6495	10887	OMIM:605192	Deafness, autosomal dominant 23	HP:0040283 - Occasional	50
HP:0100276	HP:0004467	Preauricular pit	2	SPECC1L CL E G H	23384	29022	OMIM:145420	Hypertelorism, Teebi type	.	6
HP:0100276	HP:0004467	Preauricular pit	2	SPECC1L CL E G H	23384	29022	ORPHA:1519	SPECC1L-related hypertelorism syndrome	HP:0040282 - Frequent	6
HP:0100276	HP:0004467	Preauricular pit	2	STAG2 CL E G H	10735	11355	OMIM:301022	Neurodevelopmental disorder, X-linked, with craniofacial abnormalities	.	1
HP:0100276	HP:0004464	Postauricular pit	2	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82		1
HP:0100276	HP:0004467	Preauricular pit	2	TBX1 CL E G H	6899	11592	OMIM:187500	Tetralogy of Fallot	.	32
HP:0100276	HP:0004467	Preauricular pit	2	TBX1 CL E G H	6899	11592	ORPHA:3303	Tetralogy of Fallot	HP:0040282 - Frequent	32
HP:0100276	HP:0004467	Preauricular pit	2	TFAP2A CL E G H	7020	11742	ORPHA:1297	Branchio-oculo-facial syndrome	HP:0040281 - Very frequent	12
HP:0100276	HP:0004464	Postauricular pit	2	TFAP2A CL E G H	7020	11742	ORPHA:1297	Branchio-oculo-facial syndrome	HP:0040281 - Very frequent	12
HP:0100276	HP:0100269	Paramedian lip pit	2	TFAP2A CL E G H	7020	11742	ORPHA:1297	Branchio-oculo-facial syndrome		12
HP:0100276	HP:0008606	Supraauricular pit	2	TFAP2A CL E G H	7020	11742	ORPHA:1297	Branchio-oculo-facial syndrome	HP:0040281 - Very frequent	12
HP:0100276	HP:0004464	Postauricular pit	2	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome	.	12
HP:0100276	HP:0008606	Supraauricular pit	2	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome	.	12
HP:0100276	HP:0004467	Preauricular pit	2	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome		12
HP:0100276	HP:0100269	Paramedian lip pit	2	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome		12
HP:0100276	HP:0004467	Preauricular pit	2	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type	HP:0040283 - Occasional	7
HP:0100276	HP:0004467	Preauricular pit	2	WBP11 CL E G H	51729	16461	OMIM:619227	VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS; VCTERL
HP:0100276	HP:0004467	Preauricular pit	2	XYLT2 CL E G H	64132	15517	ORPHA:85194	Spondylo-ocular syndrome	HP:0040283 - Occasional	5
HP:0100276	HP:0004467	Preauricular pit	2	ZFPM2 CL E G H	23414	16700	ORPHA:3303	Tetralogy of Fallot	HP:0040282 - Frequent	31
HP:0100276	HP:0004467	Preauricular pit	2	ZFPM2 CL E G H	23414	16700	OMIM:187500	Tetralogy of Fallot	.	31
HP:0100276	HP:0004467	Preauricular pit	2	ZNF462 CL E G H	58499	21684	OMIM:618619	WEISS-KRUSZKA SYNDROME; WSKA		4
HP:0100276	HP:0000196	Lower lip pit	3	GRHL3 CL E G H	57822	25839	ORPHA:888	Van der Woude syndrome	HP:0040282 - Frequent	12
HP:0100276	HP:0000196	Lower lip pit	3	IRF6 CL E G H	3664	6121	OMIM:119500	Popliteal pterygium syndrome	.	99
HP:0100276	HP:0000196	Lower lip pit	3	IRF6 CL E G H	3664	6121	ORPHA:888	Van der Woude syndrome	HP:0040282 - Frequent	99
HP:0100276	HP:0000196	Lower lip pit	3	IRF6 CL E G H	3664	6121	OMIM:119300	van der Woude syndrome 1	.	99
HP:0100276	HP:0000196	Lower lip pit	3	KDM6A CL E G H	7403	12637	OMIM:300867	Kabuki syndrome 2		53
HP:0100276	HP:0100268	Upper lip pit	3	TFAP2A CL E G H	7020	11742	ORPHA:1297	Branchio-oculo-facial syndrome	HP:0040283 - Occasional	12
HP:0100276	HP:0000196	Lower lip pit	3	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome	.	12