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:0000383	HP:0000383	Abnormal periauricular region morphology	0	ALX1 CL E G H	8092	1494	ORPHA:306542	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome		5
HP:0000383	HP:0000383	Abnormal periauricular region morphology	0	ALX3 CL E G H	257	449	OMIM:136760	Frontonasal dysplasia 1		9
HP:0000383	HP:0000383	Abnormal periauricular region morphology	0	ALX3 CL E G H	257	449	ORPHA:391474	Frontorhiny		9
HP:0000383	HP:0000383	Abnormal periauricular region morphology	0	ANK1 CL E G H	286	492	ORPHA:251066	8p11.2 deletion syndrome		150
HP:0000383	HP:0000383	Abnormal periauricular region morphology	0	ANKRD11 CL E G H	29123	21316	ORPHA:261250	16q24.3 microdeletion syndrome		102
HP:0000383	HP:0000383	Abnormal periauricular region morphology	0	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1		219
HP:0000383	HP:0000383	Abnormal periauricular region morphology	0	AUTS2 CL E G H	26053	14262	ORPHA:352490	Autism spectrum disorder due to AUTS2 deficiency		61
HP:0000383	HP:0000383	Abnormal periauricular region morphology	0	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome		36
HP:0000383	HP:0000383	Abnormal periauricular region morphology	0	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome		36
HP:0000383	HP:0000383	Abnormal periauricular region morphology	0	BCOR CL E G H	54880	20893	ORPHA:568	Microphthalmia, Lenz type		101
HP:0000383	HP:0000383	Abnormal periauricular region morphology	0	BRF1 CL E G H	2972	11551	OMIM:616202	Cerebellofaciodental syndrome		7
HP:0000383	HP:0000383	Abnormal periauricular region morphology	0	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome		33
HP:0000383	HP:0000383	Abnormal periauricular region morphology	0	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome		515
HP:0000383	HP:0000383	Abnormal periauricular region morphology	0	CHN1 CL E G H	1123	1943	ORPHA:233	Duane retraction syndrome		35
HP:0000383	HP:0000383	Abnormal periauricular region morphology	0	CITED2 CL E G H	10370	1987	ORPHA:3303	Tetralogy of Fallot		5
HP:0000383	HP:0000383	Abnormal periauricular region morphology	0	COL2A1 CL E G H	1280	2200	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type		284
HP:0000383	HP:0000383	Abnormal periauricular region morphology	0	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome		1
HP:0000383	HP:0000383	Abnormal periauricular region morphology	0	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0000383	HP:0000383	Abnormal periauricular region morphology	0	CTNND2 CL E G H	1501	2516	ORPHA:281	Monosomy 5p		15
HP:0000383	HP:0000383	Abnormal periauricular region morphology	0	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome		2
HP:0000383	HP:0000383	Abnormal periauricular region morphology	0	EDN1 CL E G H	1906	3176	ORPHA:137888	Auriculocondylar syndrome		6
HP:0000383	HP:0000383	Abnormal periauricular region morphology	0	EDNRA CL E G H	1909	3179	OMIM:616367	Mandibulofacial dysostosis with alopecia		3
HP:0000383	HP:0000383	Abnormal periauricular region morphology	0	EFTUD2 CL E G H	9343	30858	OMIM:610536	Mandibulofacial dysostosis, Guion-Almeida type		48
HP:0000383	HP:0000383	Abnormal periauricular region morphology	0	EFTUD2 CL E G H	9343	30858	ORPHA:79113	Mandibulofacial dysostosis-microcephaly syndrome		48
HP:0000383	HP:0000383	Abnormal periauricular region morphology	0	EIF2AK3 CL E G H	9451	3255	OMIM:226980	Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus		65
HP:0000383	HP:0000383	Abnormal periauricular region morphology	0	EXT2 CL E G H	2132	3513	OMIM:616682	Seizures, scoliosis, and macrocephaly/microcephaly syndrome		102
HP:0000383	HP:0000383	Abnormal periauricular region morphology	0	EYA1 CL E G H	2138	3519	ORPHA:107	BOR syndrome		135
HP:0000383	HP:0000383	Abnormal periauricular region morphology	0	EYA1 CL E G H	2138	3519	ORPHA:52429	Branchiootic syndrome		135
HP:0000383	HP:0000383	Abnormal periauricular region morphology	0	EYA1 CL E G H	2138	3519	OMIM:602588	Branchiootic syndrome 1		135
HP:0000383	HP:0000383	Abnormal periauricular region morphology	0	EYA1 CL E G H	2138	3519	OMIM:113650	Branchiootorenal syndrome 1		135
HP:0000383	HP:0000383	Abnormal periauricular region morphology	0	EYA1 CL E G H	2138	3519	OMIM:166780	Otofaciocervical syndrome		135
HP:0000383	HP:0000383	Abnormal periauricular region morphology	0	EYA1 CL E G H	2138	3519	ORPHA:2792	Otofaciocervical syndrome		135
HP:0000383	HP:0000383	Abnormal periauricular region morphology	0	FGFR1 CL E G H	2260	3688	OMIM:190440	Trigonocephaly 1		172
HP:0000383	HP:0000383	Abnormal periauricular region morphology	0	FGFR2 CL E G H	2263	3689	OMIM:123790	Beare-Stevenson cutis gyrata syndrome		175
HP:0000383	HP:0000383	Abnormal periauricular region morphology	0	FGFR2 CL E G H	2263	3689	ORPHA:1555	Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome		175
HP:0000383	HP:0000383	Abnormal periauricular region morphology	0	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0000383	HP:0000383	Abnormal periauricular region morphology	0	FLNA CL E G H	2316	3754	ORPHA:88630	Terminal osseous dysplasia-pigmentary defects syndrome		493
HP:0000383	HP:0000383	Abnormal periauricular region morphology	0	FLNB CL E G H	2317	3755	OMIM:272460	Spondylocarpotarsal synostosis syndrome		233
HP:0000383	HP:0000383	Abnormal periauricular region morphology	0	FLT4 CL E G H	2324	3767	ORPHA:3303	Tetralogy of Fallot		90
HP:0000383	HP:0000383	Abnormal periauricular region morphology	0	FN1 CL E G H	2335	3778	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type		9
HP:0000383	HP:0000383	Abnormal periauricular region morphology	0	GATA4 CL E G H	2626	4173	ORPHA:3303	Tetralogy of Fallot		87
HP:0000383	HP:0000383	Abnormal periauricular region morphology	0	GATA4 CL E G H	2626	4173	OMIM:187500	Tetralogy of Fallot		87
HP:0000383	HP:0000383	Abnormal periauricular region morphology	0	GATA5 CL E G H	140628	15802	ORPHA:3303	Tetralogy of Fallot		10
HP:0000383	HP:0000383	Abnormal periauricular region morphology	0	GATA6 CL E G H	2627	4174	ORPHA:3303	Tetralogy of Fallot		37
HP:0000383	HP:0000383	Abnormal periauricular region morphology	0	GATA6 CL E G H	2627	4174	OMIM:187500	Tetralogy of Fallot		37
HP:0000383	HP:0000383	Abnormal periauricular region morphology	0	GDF1 CL E G H	2657	4214	ORPHA:3303	Tetralogy of Fallot		28
HP:0000383	HP:0000383	Abnormal periauricular region morphology	0	GJA5 CL E G H	2702	4279	ORPHA:3303	Tetralogy of Fallot		39
HP:0000383	HP:0000383	Abnormal periauricular region morphology	0	GNAI3 CL E G H	2773	4387	ORPHA:137888	Auriculocondylar syndrome		2
HP:0000383	HP:0000383	Abnormal periauricular region morphology	0	GNAI3 CL E G H	2773	4387	OMIM:602483	Auriculocondylar syndrome 1		2
HP:0000383	HP:0000383	Abnormal periauricular region morphology	0	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1		73
HP:0000383	HP:0000383	Abnormal periauricular region morphology	0	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0000383	HP:0000383	Abnormal periauricular region morphology	0	GSC CL E G H	145258	4612	OMIM:602471	Short stature, auditory canal atresia, mandibular hypoplasia, andskeletal abnormalities		3
HP:0000383	HP:0000383	Abnormal periauricular region morphology	0	H4C3 CL E G H	8364	4787	OMIM:619758	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1
HP:0000383	HP:0000383	Abnormal periauricular region morphology	0	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0000383	HP:0000383	Abnormal periauricular region morphology	0	H4C9 CL E G H	8294	4793	OMIM:619951
HP:0000383	HP:0000383	Abnormal periauricular region morphology	0	HK1 CL E G H	3098	4922	OMIM:618547	NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES; NEDVIBA		11
HP:0000383	HP:0000383	Abnormal periauricular region morphology	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:0000383	HP:0000383	Abnormal periauricular region morphology	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:0000383	HP:0000383	Abnormal periauricular region morphology	0	HNRNPU CL E G H	3192	5048	ORPHA:238769	1q44 microdeletion syndrome		39
HP:0000383	HP:0000383	Abnormal periauricular region morphology	0	IRX5 CL E G H	10265	14361	OMIM:611174	Hamamy syndrome		4
HP:0000383	HP:0000383	Abnormal periauricular region morphology	0	JAG1 CL E G H	182	6188	OMIM:187500	Tetralogy of Fallot		257
HP:0000383	HP:0000383	Abnormal periauricular region morphology	0	JAG1 CL E G H	182	6188	ORPHA:3303	Tetralogy of Fallot		257
HP:0000383	HP:0000383	Abnormal periauricular region morphology	0	KAT6A CL E G H	7994	13013	ORPHA:457193	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome		34
HP:0000383	HP:0000383	Abnormal periauricular region morphology	0	KCNJ2 CL E G H	3759	6263	OMIM:170390	Andersen cardiodysrhythmic periodic paralysis		193
HP:0000383	HP:0000383	Abnormal periauricular region morphology	0	KDM6A CL E G H	7403	12637	ORPHA:2322	Kabuki syndrome		53
HP:0000383	HP:0000383	Abnormal periauricular region morphology	0	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1		53
HP:0000383	HP:0000383	Abnormal periauricular region morphology	0	KDR CL E G H	3791	6307	ORPHA:3303	Tetralogy of Fallot		40
HP:0000383	HP:0000383	Abnormal periauricular region morphology	0	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome		167
HP:0000383	HP:0000383	Abnormal periauricular region morphology	0	KMT2D CL E G H	8085	7133	ORPHA:2322	Kabuki syndrome		660
HP:0000383	HP:0000383	Abnormal periauricular region morphology	0	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1		660
HP:0000383	HP:0000383	Abnormal periauricular region morphology	0	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0000383	HP:0000383	Abnormal periauricular region morphology	0	LRP1 CL E G H	4035	6692	ORPHA:79100	Atrophoderma vermiculata		4
HP:0000383	HP:0000383	Abnormal periauricular region morphology	0	LRP5 CL E G H	4041	6697	ORPHA:2788	Osteoporosis-pseudoglioma syndrome		125
HP:0000383	HP:0000383	Abnormal periauricular region morphology	0	MAFB CL E G H	9935	6408	ORPHA:233	Duane retraction syndrome		63
HP:0000383	HP:0000383	Abnormal periauricular region morphology	0	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR		228
HP:0000383	HP:0000383	Abnormal periauricular region morphology	0	MED13L CL E G H	23389	22962	ORPHA:369891	Developmental delay-facial dysmorphism syndrome due to MED13L deficiency		74
HP:0000383	HP:0000383	Abnormal periauricular region morphology	0	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome		57
HP:0000383	HP:0000383	Abnormal periauricular region morphology	0	MITF CL E G H	4286	7105	OMIM:617306	Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness		91
HP:0000383	HP:0000383	Abnormal periauricular region morphology	0	MSL3 CL E G H	10943	7370	OMIM:301032	BASILICATA-AKHTAR SYNDROME; MRXSBA
HP:0000383	HP:0000383	Abnormal periauricular region morphology	0	NAA10 CL E G H	8260	18704	ORPHA:568	Microphthalmia, Lenz type		23
HP:0000383	HP:0000383	Abnormal periauricular region morphology	0	NKX2-5 CL E G H	1482	2488	ORPHA:3303	Tetralogy of Fallot		90
HP:0000383	HP:0000383	Abnormal periauricular region morphology	0	NKX2-5 CL E G H	1482	2488	OMIM:187500	Tetralogy of Fallot		90
HP:0000383	HP:0000383	Abnormal periauricular region morphology	0	NKX2-6 CL E G H	137814	32940	ORPHA:3303	Tetralogy of Fallot		3
HP:0000383	HP:0000383	Abnormal periauricular region morphology	0	NPHP3 CL E G H	27031	7907	OMIM:208540	Renal-Hepatic-Pancreatic dysplasia		157
HP:0000383	HP:0000383	Abnormal periauricular region morphology	0	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome		118
HP:0000383	HP:0000383	Abnormal periauricular region morphology	0	ODC1 CL E G H	4953	8109	ORPHA:544488	Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome		1
HP:0000383	HP:0000383	Abnormal periauricular region morphology	0	PAX1 CL E G H	5075	8615	ORPHA:2792	Otofaciocervical syndrome		3
HP:0000383	HP:0000383	Abnormal periauricular region morphology	0	PAX1 CL E G H	5075	8615	OMIM:615560	Otofaciocervical syndrome 2		3
HP:0000383	HP:0000383	Abnormal periauricular region morphology	0	PIGS CL E G H	94005	14937	OMIM:618143	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0000383	HP:0000383	Abnormal periauricular region morphology	0	PLCB4 CL E G H	5332	9059	ORPHA:137888	Auriculocondylar syndrome		82
HP:0000383	HP:0000383	Abnormal periauricular region morphology	0	POLR1B CL E G H	84172	20454	ORPHA:861	Treacher-Collins syndrome
HP:0000383	HP:0000383	Abnormal periauricular region morphology	0	POLR1C CL E G H	9533	20194	ORPHA:861	Treacher-Collins syndrome		38
HP:0000383	HP:0000383	Abnormal periauricular region morphology	0	POLR1D CL E G H	51082	20422	OMIM:613717	Treacher collins syndrome 2		31
HP:0000383	HP:0000383	Abnormal periauricular region morphology	0	POLR1D CL E G H	51082	20422	ORPHA:861	Treacher-Collins syndrome		31
HP:0000383	HP:0000383	Abnormal periauricular region morphology	0	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2		9
HP:0000383	HP:0000383	Abnormal periauricular region morphology	0	PRMT7 CL E G H	54496	25557	ORPHA:464288	Short stature-brachydactyly-obesity-global developmental delay syndrome		6
HP:0000383	HP:0000383	Abnormal periauricular region morphology	0	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1		31
HP:0000383	HP:0000383	Abnormal periauricular region morphology	0	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome		124
HP:0000383	HP:0000383	Abnormal periauricular region morphology	0	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1		124
HP:0000383	HP:0000383	Abnormal periauricular region morphology	0	SALL4 CL E G H	57167	15924	ORPHA:233	Duane retraction syndrome		86
HP:0000383	HP:0000383	Abnormal periauricular region morphology	0	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome		16
HP:0000383	HP:0000383	Abnormal periauricular region morphology	0	SEMA5A CL E G H	9037	10736	ORPHA:281	Monosomy 5p		6
HP:0000383	HP:0000383	Abnormal periauricular region morphology	0	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia		2
HP:0000383	HP:0000383	Abnormal periauricular region morphology	0	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type		49
HP:0000383	HP:0000383	Abnormal periauricular region morphology	0	SIX1 CL E G H	6495	10887	ORPHA:107	BOR syndrome		50
HP:0000383	HP:0000383	Abnormal periauricular region morphology	0	SIX1 CL E G H	6495	10887	ORPHA:52429	Branchiootic syndrome		50
HP:0000383	HP:0000383	Abnormal periauricular region morphology	0	SIX1 CL E G H	6495	10887	OMIM:608389	Branchiootic syndrome 3		50
HP:0000383	HP:0000383	Abnormal periauricular region morphology	0	SIX1 CL E G H	6495	10887	OMIM:113650	Branchiootorenal syndrome 1		50
HP:0000383	HP:0000383	Abnormal periauricular region morphology	0	SIX1 CL E G H	6495	10887	OMIM:605192	Deafness, autosomal dominant 23		50
HP:0000383	HP:0000383	Abnormal periauricular region morphology	0	SIX5 CL E G H	147912	10891	ORPHA:107	BOR syndrome		10
HP:0000383	HP:0000383	Abnormal periauricular region morphology	0	SIX5 CL E G H	147912	10891	OMIM:610896	Branchiootorenal syndrome 2		10
HP:0000383	HP:0000383	Abnormal periauricular region morphology	0	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome		146
HP:0000383	HP:0000383	Abnormal periauricular region morphology	0	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation		37
HP:0000383	HP:0000383	Abnormal periauricular region morphology	0	SPECC1L CL E G H	23384	29022	OMIM:145420	Hypertelorism, Teebi type		6
HP:0000383	HP:0000383	Abnormal periauricular region morphology	0	SPECC1L CL E G H	23384	29022	ORPHA:1519	SPECC1L-related hypertelorism syndrome		6
HP:0000383	HP:0000383	Abnormal periauricular region morphology	0	STAG2 CL E G H	10735	11355	OMIM:301022	Neurodevelopmental disorder, X-linked, with craniofacial abnormalities		1
HP:0000383	HP:0000383	Abnormal periauricular region morphology	0	SVBP CL E G H	374969	29204	OMIM:618569	NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM
HP:0000383	HP:0000383	Abnormal periauricular region morphology	0	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82		1
HP:0000383	HP:0000383	Abnormal periauricular region morphology	0	TASP1 CL E G H	55617	15859	OMIM:618950	SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0000383	HP:0000383	Abnormal periauricular region morphology	0	TBX1 CL E G H	6899	11592	OMIM:187500	Tetralogy of Fallot		32
HP:0000383	HP:0000383	Abnormal periauricular region morphology	0	TBX1 CL E G H	6899	11592	ORPHA:3303	Tetralogy of Fallot		32
HP:0000383	HP:0000383	Abnormal periauricular region morphology	0	TCOF1 CL E G H	6949	11654	OMIM:154500	Treacher collins-franceschetti syndrome		140
HP:0000383	HP:0000383	Abnormal periauricular region morphology	0	TCOF1 CL E G H	6949	11654	ORPHA:861	Treacher-Collins syndrome		140
HP:0000383	HP:0000383	Abnormal periauricular region morphology	0	TFAP2A CL E G H	7020	11742	ORPHA:1297	Branchio-oculo-facial syndrome		12
HP:0000383	HP:0000383	Abnormal periauricular region morphology	0	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome		12
HP:0000383	HP:0000383	Abnormal periauricular region morphology	0	TMEM260 CL E G H	54916	20185	OMIM:617478	Structural heart defects and renal anomalies syndrome		2
HP:0000383	HP:0000383	Abnormal periauricular region morphology	0	TXNL4A CL E G H	10907	30551	OMIM:608572	Burn-Mckeown syndrome		19
HP:0000383	HP:0000383	Abnormal periauricular region morphology	0	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type		7
HP:0000383	HP:0000383	Abnormal periauricular region morphology	0	UBE3B CL E G H	89910	13478	OMIM:244450	Kaufman oculocerebrofacial syndrome		13
HP:0000383	HP:0000383	Abnormal periauricular region morphology	0	UBE3B CL E G H	89910	13478	ORPHA:2707	Oculocerebrofacial syndrome, Kaufman type		13
HP:0000383	HP:0000383	Abnormal periauricular region morphology	0	VPS13B CL E G H	157680	2183	ORPHA:193	Cohen syndrome		546
HP:0000383	HP:0000383	Abnormal periauricular region morphology	0	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome		83
HP:0000383	HP:0000383	Abnormal periauricular region morphology	0	WBP11 CL E G H	51729	16461	OMIM:619227	VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS; VCTERL
HP:0000383	HP:0000383	Abnormal periauricular region morphology	0	WLS CL E G H	79971	30238	OMIM:619648	ZAKI SYNDROME; ZKS
HP:0000383	HP:0000383	Abnormal periauricular region morphology	0	XYLT2 CL E G H	64132	15517	ORPHA:85194	Spondylo-ocular syndrome		5
HP:0000383	HP:0000383	Abnormal periauricular region morphology	0	ZFPM2 CL E G H	23414	16700	ORPHA:3303	Tetralogy of Fallot		31
HP:0000383	HP:0000383	Abnormal periauricular region morphology	0	ZFPM2 CL E G H	23414	16700	OMIM:187500	Tetralogy of Fallot		31
HP:0000383	HP:0000383	Abnormal periauricular region morphology	0	ZNF462 CL E G H	58499	21684	OMIM:618619	WEISS-KRUSZKA SYNDROME; WSKA		4
HP:0000383	HP:0040297	Preauricular cyst	1	CL E G H
HP:0000383	HP:0030024	Pretragal ectopia	1	CL E G H
HP:0000383	HP:0000384	Preauricular skin tag	1	ALX1 CL E G H	8092	1494	ORPHA:306542	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome	HP:0040282 - Frequent	5
HP:0000383	HP:0000384	Preauricular skin tag	1	ALX3 CL E G H	257	449	OMIM:136760	Frontonasal dysplasia 1	.	9
HP:0000383	HP:0000384	Preauricular skin tag	1	ALX3 CL E G H	257	449	ORPHA:391474	Frontorhiny	HP:0040282 - Frequent	9
HP:0000383	HP:0100277	Periauricular skin pits	1	ANK1 CL E G H	286	492	ORPHA:251066	8p11.2 deletion syndrome		150
HP:0000383	HP:0000384	Preauricular skin tag	1	ANKRD11 CL E G H	29123	21316	ORPHA:261250	16q24.3 microdeletion syndrome	HP:0040283 - Occasional	102
HP:0000383	HP:0000384	Preauricular skin tag	1	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1	.	219
HP:0000383	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:0000383	HP:0100277	Periauricular skin pits	1	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome		36
HP:0000383	HP:0000384	Preauricular skin tag	1	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome	HP:0040282 - Frequent	36
HP:0000383	HP:0100277	Periauricular skin pits	1	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome		36
HP:0000383	HP:0000384	Preauricular skin tag	1	BCOR CL E G H	54880	20893	ORPHA:568	Microphthalmia, Lenz type	HP:0040283 - Occasional	101
HP:0000383	HP:0000384	Preauricular skin tag	1	BRF1 CL E G H	2972	11551	OMIM:616202	Cerebellofaciodental syndrome		7
HP:0000383	HP:0000384	Preauricular skin tag	1	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome	HP:0040283 - Occasional	33
HP:0000383	HP:0000384	Preauricular skin tag	1	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome	HP:0040283 - Occasional	515
HP:0000383	HP:0000384	Preauricular skin tag	1	CHN1 CL E G H	1123	1943	ORPHA:233	Duane retraction syndrome	HP:0040283 - Occasional	35
HP:0000383	HP:0100277	Periauricular skin pits	1	CITED2 CL E G H	10370	1987	ORPHA:3303	Tetralogy of Fallot		5
HP:0000383	HP:0000384	Preauricular skin tag	1	COL2A1 CL E G H	1280	2200	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type	HP:0040283 - Occasional	284
HP:0000383	HP:0100277	Periauricular skin pits	1	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome		1
HP:0000383	HP:0000384	Preauricular skin tag	1	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome		1
HP:0000383	HP:0000384	Preauricular skin tag	1	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0000383	HP:0100277	Periauricular skin pits	1	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0000383	HP:0000384	Preauricular skin tag	1	CTNND2 CL E G H	1501	2516	ORPHA:281	Monosomy 5p	HP:0040283 - Occasional	15
HP:0000383	HP:0000384	Preauricular skin tag	1	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome	HP:0040281 - Very frequent	2
HP:0000383	HP:0000384	Preauricular skin tag	1	EDN1 CL E G H	1906	3176	ORPHA:137888	Auriculocondylar syndrome	HP:0040282 - Frequent	6
HP:0000383	HP:0100277	Periauricular skin pits	1	EDN1 CL E G H	1906	3176	ORPHA:137888	Auriculocondylar syndrome	HP:0040282 - Frequent	6
HP:0000383	HP:0000384	Preauricular skin tag	1	EDNRA CL E G H	1909	3179	OMIM:616367	Mandibulofacial dysostosis with alopecia	HP:0040283 - Occasional	3
HP:0000383	HP:0100277	Periauricular skin pits	1	EDNRA CL E G H	1909	3179	OMIM:616367	Mandibulofacial dysostosis with alopecia		3
HP:0000383	HP:0000384	Preauricular skin tag	1	EFTUD2 CL E G H	9343	30858	OMIM:610536	Mandibulofacial dysostosis, Guion-Almeida type	.	48
HP:0000383	HP:0000384	Preauricular skin tag	1	EFTUD2 CL E G H	9343	30858	ORPHA:79113	Mandibulofacial dysostosis-microcephaly syndrome	HP:0040281 - Very frequent	48
HP:0000383	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:0000383	HP:0000384	Preauricular skin tag	1	EXT2 CL E G H	2132	3513	OMIM:616682	Seizures, scoliosis, and macrocephaly/microcephaly syndrome	.	102
HP:0000383	HP:0000384	Preauricular skin tag	1	EYA1 CL E G H	2138	3519	ORPHA:107	BOR syndrome	HP:0040282 - Frequent	135
HP:0000383	HP:0000384	Preauricular skin tag	1	EYA1 CL E G H	2138	3519	ORPHA:52429	Branchiootic syndrome	HP:0040283 - Occasional	135
HP:0000383	HP:0100277	Periauricular skin pits	1	EYA1 CL E G H	2138	3519	ORPHA:52429	Branchiootic syndrome		135
HP:0000383	HP:0100277	Periauricular skin pits	1	EYA1 CL E G H	2138	3519	OMIM:602588	Branchiootic syndrome 1		135
HP:0000383	HP:0100277	Periauricular skin pits	1	EYA1 CL E G H	2138	3519	OMIM:113650	Branchiootorenal syndrome 1		135
HP:0000383	HP:0000384	Preauricular skin tag	1	EYA1 CL E G H	2138	3519	OMIM:113650	Branchiootorenal syndrome 1	.	135
HP:0000383	HP:0100277	Periauricular skin pits	1	EYA1 CL E G H	2138	3519	OMIM:166780	Otofaciocervical syndrome		135
HP:0000383	HP:0100277	Periauricular skin pits	1	EYA1 CL E G H	2138	3519	ORPHA:2792	Otofaciocervical syndrome		135
HP:0000383	HP:0000384	Preauricular skin tag	1	FGFR1 CL E G H	2260	3688	OMIM:190440	Trigonocephaly 1	.	172
HP:0000383	HP:0004450	Preauricular skin furrow	1	FGFR2 CL E G H	2263	3689	OMIM:123790	Beare-Stevenson cutis gyrata syndrome		175
HP:0000383	HP:0004450	Preauricular skin furrow	1	FGFR2 CL E G H	2263	3689	ORPHA:1555	Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome	HP:0040281 - Very frequent	175
HP:0000383	HP:0000384	Preauricular skin tag	1	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0000383	HP:0100277	Periauricular skin pits	1	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0000383	HP:0100277	Periauricular skin pits	1	FLNA CL E G H	2316	3754	ORPHA:88630	Terminal osseous dysplasia-pigmentary defects syndrome		493
HP:0000383	HP:0000384	Preauricular skin tag	1	FLNB CL E G H	2317	3755	OMIM:272460	Spondylocarpotarsal synostosis syndrome	.	233
HP:0000383	HP:0100277	Periauricular skin pits	1	FLT4 CL E G H	2324	3767	ORPHA:3303	Tetralogy of Fallot		90
HP:0000383	HP:0000384	Preauricular skin tag	1	FN1 CL E G H	2335	3778	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type	HP:0040283 - Occasional	9
HP:0000383	HP:0100277	Periauricular skin pits	1	GATA4 CL E G H	2626	4173	ORPHA:3303	Tetralogy of Fallot		87
HP:0000383	HP:0100277	Periauricular skin pits	1	GATA4 CL E G H	2626	4173	OMIM:187500	Tetralogy of Fallot		87
HP:0000383	HP:0100277	Periauricular skin pits	1	GATA5 CL E G H	140628	15802	ORPHA:3303	Tetralogy of Fallot		10
HP:0000383	HP:0100277	Periauricular skin pits	1	GATA6 CL E G H	2627	4174	OMIM:187500	Tetralogy of Fallot		37
HP:0000383	HP:0100277	Periauricular skin pits	1	GATA6 CL E G H	2627	4174	ORPHA:3303	Tetralogy of Fallot		37
HP:0000383	HP:0100277	Periauricular skin pits	1	GDF1 CL E G H	2657	4214	ORPHA:3303	Tetralogy of Fallot		28
HP:0000383	HP:0100277	Periauricular skin pits	1	GJA5 CL E G H	2702	4279	ORPHA:3303	Tetralogy of Fallot		39
HP:0000383	HP:0000384	Preauricular skin tag	1	GNAI3 CL E G H	2773	4387	ORPHA:137888	Auriculocondylar syndrome	HP:0040282 - Frequent	2
HP:0000383	HP:0100277	Periauricular skin pits	1	GNAI3 CL E G H	2773	4387	ORPHA:137888	Auriculocondylar syndrome	HP:0040282 - Frequent	2
HP:0000383	HP:0004451	Postauricular skin tag	1	GNAI3 CL E G H	2773	4387	OMIM:602483	Auriculocondylar syndrome 1	.	2
HP:0000383	HP:0000384	Preauricular skin tag	1	GNAI3 CL E G H	2773	4387	OMIM:602483	Auriculocondylar syndrome 1	.	2
HP:0000383	HP:0000384	Preauricular skin tag	1	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1		73
HP:0000383	HP:0100277	Periauricular skin pits	1	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1		73
HP:0000383	HP:0100277	Periauricular skin pits	1	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0000383	HP:0000384	Preauricular skin tag	1	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0000383	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:0000383	HP:0000384	Preauricular skin tag	1	H4C3 CL E G H	8364	4787	OMIM:619758	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1
HP:0000383	HP:0000384	Preauricular skin tag	1	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0000383	HP:0100277	Periauricular skin pits	1	H4C9 CL E G H	8294	4793	OMIM:619951
HP:0000383	HP:0000384	Preauricular skin tag	1	H4C9 CL E G H	8294	4793	OMIM:619951
HP:0000383	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:0000383	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:0000383	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:0000383	HP:0000384	Preauricular skin tag	1	HNRNPU CL E G H	3192	5048	ORPHA:238769	1q44 microdeletion syndrome	HP:0040283 - Occasional	39
HP:0000383	HP:0000384	Preauricular skin tag	1	IRX5 CL E G H	10265	14361	OMIM:611174	Hamamy syndrome	HP:0040283 - Occasional	4
HP:0000383	HP:0100277	Periauricular skin pits	1	JAG1 CL E G H	182	6188	ORPHA:3303	Tetralogy of Fallot		257
HP:0000383	HP:0100277	Periauricular skin pits	1	JAG1 CL E G H	182	6188	OMIM:187500	Tetralogy of Fallot		257
HP:0000383	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:0000383	HP:0100277	Periauricular skin pits	1	KCNJ2 CL E G H	3759	6263	OMIM:170390	Andersen cardiodysrhythmic periodic paralysis		193
HP:0000383	HP:0000384	Preauricular skin tag	1	KDM6A CL E G H	7403	12637	ORPHA:2322	Kabuki syndrome	HP:0040283 - Occasional	53
HP:0000383	HP:0100277	Periauricular skin pits	1	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1		53
HP:0000383	HP:0100277	Periauricular skin pits	1	KDR CL E G H	3791	6307	ORPHA:3303	Tetralogy of Fallot		40
HP:0000383	HP:0000384	Preauricular skin tag	1	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome		167
HP:0000383	HP:0000384	Preauricular skin tag	1	KMT2D CL E G H	8085	7133	ORPHA:2322	Kabuki syndrome	HP:0040283 - Occasional	660
HP:0000383	HP:0100277	Periauricular skin pits	1	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1		660
HP:0000383	HP:0000384	Preauricular skin tag	1	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0000383	HP:0100277	Periauricular skin pits	1	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0000383	HP:0100277	Periauricular skin pits	1	LRP1 CL E G H	4035	6692	ORPHA:79100	Atrophoderma vermiculata	HP:0040282 - Frequent	4
HP:0000383	HP:0000384	Preauricular skin tag	1	LRP5 CL E G H	4041	6697	ORPHA:2788	Osteoporosis-pseudoglioma syndrome	HP:0040284 - Very rare	125
HP:0000383	HP:0000384	Preauricular skin tag	1	MAFB CL E G H	9935	6408	ORPHA:233	Duane retraction syndrome	HP:0040283 - Occasional	63
HP:0000383	HP:0100277	Periauricular skin pits	1	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR		228
HP:0000383	HP:0000384	Preauricular skin tag	1	MED13L CL E G H	23389	22962	ORPHA:369891	Developmental delay-facial dysmorphism syndrome due to MED13L deficiency	HP:0040283 - Occasional	74
HP:0000383	HP:0100277	Periauricular skin pits	1	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome		57
HP:0000383	HP:0100277	Periauricular skin pits	1	MITF CL E G H	4286	7105	OMIM:617306	Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness		91
HP:0000383	HP:0000384	Preauricular skin tag	1	MSL3 CL E G H	10943	7370	OMIM:301032	BASILICATA-AKHTAR SYNDROME; MRXSBA
HP:0000383	HP:0000384	Preauricular skin tag	1	NAA10 CL E G H	8260	18704	ORPHA:568	Microphthalmia, Lenz type	HP:0040283 - Occasional	23
HP:0000383	HP:0100277	Periauricular skin pits	1	NKX2-5 CL E G H	1482	2488	OMIM:187500	Tetralogy of Fallot		90
HP:0000383	HP:0100277	Periauricular skin pits	1	NKX2-5 CL E G H	1482	2488	ORPHA:3303	Tetralogy of Fallot		90
HP:0000383	HP:0100277	Periauricular skin pits	1	NKX2-6 CL E G H	137814	32940	ORPHA:3303	Tetralogy of Fallot		3
HP:0000383	HP:0100277	Periauricular skin pits	1	NPHP3 CL E G H	27031	7907	OMIM:208540	Renal-Hepatic-Pancreatic dysplasia		157
HP:0000383	HP:0100277	Periauricular skin pits	1	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome		118
HP:0000383	HP:0000384	Preauricular skin tag	1	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome		118
HP:0000383	HP:0000384	Preauricular skin tag	1	ODC1 CL E G H	4953	8109	ORPHA:544488	Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome	HP:0040283 - Occasional	1
HP:0000383	HP:0100277	Periauricular skin pits	1	PAX1 CL E G H	5075	8615	ORPHA:2792	Otofaciocervical syndrome		3
HP:0000383	HP:0100277	Periauricular skin pits	1	PAX1 CL E G H	5075	8615	OMIM:615560	Otofaciocervical syndrome 2		3
HP:0000383	HP:0000384	Preauricular skin tag	1	PIGS CL E G H	94005	14937	OMIM:618143	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0000383	HP:0000384	Preauricular skin tag	1	PLCB4 CL E G H	5332	9059	ORPHA:137888	Auriculocondylar syndrome	HP:0040282 - Frequent	82
HP:0000383	HP:0100277	Periauricular skin pits	1	PLCB4 CL E G H	5332	9059	ORPHA:137888	Auriculocondylar syndrome	HP:0040282 - Frequent	82
HP:0000383	HP:0000384	Preauricular skin tag	1	POLR1B CL E G H	84172	20454	ORPHA:861	Treacher-Collins syndrome	HP:0040283 - Occasional
HP:0000383	HP:0000384	Preauricular skin tag	1	POLR1C CL E G H	9533	20194	ORPHA:861	Treacher-Collins syndrome	HP:0040283 - Occasional	38
HP:0000383	HP:0100277	Periauricular skin pits	1	POLR1D CL E G H	51082	20422	OMIM:613717	Treacher collins syndrome 2		31
HP:0000383	HP:0000384	Preauricular skin tag	1	POLR1D CL E G H	51082	20422	ORPHA:861	Treacher-Collins syndrome	HP:0040283 - Occasional	31
HP:0000383	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:0000383	HP:0000384	Preauricular skin tag	1	PRMT7 CL E G H	54496	25557	ORPHA:464288	Short stature-brachydactyly-obesity-global developmental delay syndrome	HP:0040283 - Occasional	6
HP:0000383	HP:0100277	Periauricular skin pits	1	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1		31
HP:0000383	HP:0000384	Preauricular skin tag	1	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome	HP:0040281 - Very frequent	124
HP:0000383	HP:0000384	Preauricular skin tag	1	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1	.	124
HP:0000383	HP:0100277	Periauricular skin pits	1	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1		124
HP:0000383	HP:0000384	Preauricular skin tag	1	SALL4 CL E G H	57167	15924	ORPHA:233	Duane retraction syndrome	HP:0040283 - Occasional	86
HP:0000383	HP:0000384	Preauricular skin tag	1	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome	HP:0040283 - Occasional	16
HP:0000383	HP:0000384	Preauricular skin tag	1	SEMA5A CL E G H	9037	10736	ORPHA:281	Monosomy 5p	HP:0040283 - Occasional	6
HP:0000383	HP:0000384	Preauricular skin tag	1	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia	.	2
HP:0000383	HP:0000384	Preauricular skin tag	1	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type	.	49
HP:0000383	HP:0000384	Preauricular skin tag	1	SIX1 CL E G H	6495	10887	ORPHA:107	BOR syndrome	HP:0040282 - Frequent	50
HP:0000383	HP:0000384	Preauricular skin tag	1	SIX1 CL E G H	6495	10887	ORPHA:52429	Branchiootic syndrome	HP:0040283 - Occasional	50
HP:0000383	HP:0100277	Periauricular skin pits	1	SIX1 CL E G H	6495	10887	ORPHA:52429	Branchiootic syndrome		50
HP:0000383	HP:0100277	Periauricular skin pits	1	SIX1 CL E G H	6495	10887	OMIM:608389	Branchiootic syndrome 3		50
HP:0000383	HP:0000384	Preauricular skin tag	1	SIX1 CL E G H	6495	10887	OMIM:608389	Branchiootic syndrome 3	.	50
HP:0000383	HP:0000384	Preauricular skin tag	1	SIX1 CL E G H	6495	10887	OMIM:113650	Branchiootorenal syndrome 1	.	50
HP:0000383	HP:0100277	Periauricular skin pits	1	SIX1 CL E G H	6495	10887	OMIM:113650	Branchiootorenal syndrome 1		50
HP:0000383	HP:0100277	Periauricular skin pits	1	SIX1 CL E G H	6495	10887	OMIM:605192	Deafness, autosomal dominant 23		50
HP:0000383	HP:0000384	Preauricular skin tag	1	SIX5 CL E G H	147912	10891	ORPHA:107	BOR syndrome	HP:0040282 - Frequent	10
HP:0000383	HP:0000384	Preauricular skin tag	1	SIX5 CL E G H	147912	10891	OMIM:610896	Branchiootorenal syndrome 2	.	10
HP:0000383	HP:0000384	Preauricular skin tag	1	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome		146
HP:0000383	HP:0000384	Preauricular skin tag	1	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation	HP:0040283 - Occasional	37
HP:0000383	HP:0100277	Periauricular skin pits	1	SPECC1L CL E G H	23384	29022	OMIM:145420	Hypertelorism, Teebi type		6
HP:0000383	HP:0100277	Periauricular skin pits	1	SPECC1L CL E G H	23384	29022	ORPHA:1519	SPECC1L-related hypertelorism syndrome		6
HP:0000383	HP:0000384	Preauricular skin tag	1	STAG2 CL E G H	10735	11355	OMIM:301022	Neurodevelopmental disorder, X-linked, with craniofacial abnormalities	.	1
HP:0000383	HP:0100277	Periauricular skin pits	1	STAG2 CL E G H	10735	11355	OMIM:301022	Neurodevelopmental disorder, X-linked, with craniofacial abnormalities		1
HP:0000383	HP:0000384	Preauricular skin tag	1	SVBP CL E G H	374969	29204	OMIM:618569	NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM
HP:0000383	HP:0100277	Periauricular skin pits	1	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82		1
HP:0000383	HP:0000384	Preauricular skin tag	1	TASP1 CL E G H	55617	15859	OMIM:618950	SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0000383	HP:0100277	Periauricular skin pits	1	TBX1 CL E G H	6899	11592	ORPHA:3303	Tetralogy of Fallot		32
HP:0000383	HP:0100277	Periauricular skin pits	1	TBX1 CL E G H	6899	11592	OMIM:187500	Tetralogy of Fallot		32
HP:0000383	HP:0000384	Preauricular skin tag	1	TCOF1 CL E G H	6949	11654	OMIM:154500	Treacher collins-franceschetti syndrome	.	140
HP:0000383	HP:0000384	Preauricular skin tag	1	TCOF1 CL E G H	6949	11654	ORPHA:861	Treacher-Collins syndrome	HP:0040283 - Occasional	140
HP:0000383	HP:0100277	Periauricular skin pits	1	TFAP2A CL E G H	7020	11742	ORPHA:1297	Branchio-oculo-facial syndrome		12
HP:0000383	HP:0100277	Periauricular skin pits	1	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome		12
HP:0000383	HP:0000384	Preauricular skin tag	1	TMEM260 CL E G H	54916	20185	OMIM:617478	Structural heart defects and renal anomalies syndrome		2
HP:0000383	HP:0000384	Preauricular skin tag	1	TXNL4A CL E G H	10907	30551	OMIM:608572	Burn-Mckeown syndrome	.	19
HP:0000383	HP:0100277	Periauricular skin pits	1	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type		7
HP:0000383	HP:0000384	Preauricular skin tag	1	UBE3B CL E G H	89910	13478	OMIM:244450	Kaufman oculocerebrofacial syndrome		13
HP:0000383	HP:0000384	Preauricular skin tag	1	UBE3B CL E G H	89910	13478	ORPHA:2707	Oculocerebrofacial syndrome, Kaufman type	HP:0040282 - Frequent	13
HP:0000383	HP:0000384	Preauricular skin tag	1	VPS13B CL E G H	157680	2183	ORPHA:193	Cohen syndrome	HP:0040283 - Occasional	546
HP:0000383	HP:0000384	Preauricular skin tag	1	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome	HP:0040283 - Occasional	83
HP:0000383	HP:0000384	Preauricular skin tag	1	WBP11 CL E G H	51729	16461	OMIM:619227	VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS; VCTERL
HP:0000383	HP:0100277	Periauricular skin pits	1	WBP11 CL E G H	51729	16461	OMIM:619227	VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS; VCTERL
HP:0000383	HP:0000384	Preauricular skin tag	1	WLS CL E G H	79971	30238	OMIM:619648	ZAKI SYNDROME; ZKS
HP:0000383	HP:0100277	Periauricular skin pits	1	XYLT2 CL E G H	64132	15517	ORPHA:85194	Spondylo-ocular syndrome		5
HP:0000383	HP:0100277	Periauricular skin pits	1	ZFPM2 CL E G H	23414	16700	OMIM:187500	Tetralogy of Fallot		31
HP:0000383	HP:0100277	Periauricular skin pits	1	ZFPM2 CL E G H	23414	16700	ORPHA:3303	Tetralogy of Fallot		31
HP:0000383	HP:0100277	Periauricular skin pits	1	ZNF462 CL E G H	58499	21684	OMIM:618619	WEISS-KRUSZKA SYNDROME; WSKA		4
HP:0000383	HP:0004467	Preauricular pit	2	ANK1 CL E G H	286	492	ORPHA:251066	8p11.2 deletion syndrome	HP:0040282 - Frequent	150
HP:0000383	HP:0004467	Preauricular pit	2	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome	HP:0040282 - Frequent	36
HP:0000383	HP:0004467	Preauricular pit	2	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome	.	36
HP:0000383	HP:0004467	Preauricular pit	2	CITED2 CL E G H	10370	1987	ORPHA:3303	Tetralogy of Fallot	HP:0040282 - Frequent	5
HP:0000383	HP:0004467	Preauricular pit	2	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome		1
HP:0000383	HP:0004467	Preauricular pit	2	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0000383	HP:0004467	Preauricular pit	2	EDNRA CL E G H	1909	3179	OMIM:616367	Mandibulofacial dysostosis with alopecia	HP:0040283 - Occasional	3
HP:0000383	HP:0004467	Preauricular pit	2	EIF2AK3 CL E G H	9451	3255	OMIM:226980	Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus	.	65
HP:0000383	HP:0004467	Preauricular pit	2	EYA1 CL E G H	2138	3519	ORPHA:52429	Branchiootic syndrome	HP:0040281 - Very frequent	135
HP:0000383	HP:0004467	Preauricular pit	2	EYA1 CL E G H	2138	3519	OMIM:602588	Branchiootic syndrome 1	.	135
HP:0000383	HP:0004467	Preauricular pit	2	EYA1 CL E G H	2138	3519	OMIM:113650	Branchiootorenal syndrome 1		135
HP:0000383	HP:0004467	Preauricular pit	2	EYA1 CL E G H	2138	3519	OMIM:166780	Otofaciocervical syndrome	.	135
HP:0000383	HP:0004467	Preauricular pit	2	EYA1 CL E G H	2138	3519	ORPHA:2792	Otofaciocervical syndrome	HP:0040281 - Very frequent	135
HP:0000383	HP:0004467	Preauricular pit	2	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0000383	HP:0004467	Preauricular pit	2	FLNA CL E G H	2316	3754	ORPHA:88630	Terminal osseous dysplasia-pigmentary defects syndrome		493
HP:0000383	HP:0004467	Preauricular pit	2	FLT4 CL E G H	2324	3767	ORPHA:3303	Tetralogy of Fallot	HP:0040282 - Frequent	90
HP:0000383	HP:0004467	Preauricular pit	2	GATA4 CL E G H	2626	4173	ORPHA:3303	Tetralogy of Fallot	HP:0040282 - Frequent	87
HP:0000383	HP:0004467	Preauricular pit	2	GATA4 CL E G H	2626	4173	OMIM:187500	Tetralogy of Fallot	.	87
HP:0000383	HP:0004467	Preauricular pit	2	GATA5 CL E G H	140628	15802	ORPHA:3303	Tetralogy of Fallot	HP:0040282 - Frequent	10
HP:0000383	HP:0004467	Preauricular pit	2	GATA6 CL E G H	2627	4174	OMIM:187500	Tetralogy of Fallot	.	37
HP:0000383	HP:0004467	Preauricular pit	2	GATA6 CL E G H	2627	4174	ORPHA:3303	Tetralogy of Fallot	HP:0040282 - Frequent	37
HP:0000383	HP:0004467	Preauricular pit	2	GDF1 CL E G H	2657	4214	ORPHA:3303	Tetralogy of Fallot	HP:0040282 - Frequent	28
HP:0000383	HP:0004467	Preauricular pit	2	GJA5 CL E G H	2702	4279	ORPHA:3303	Tetralogy of Fallot	HP:0040282 - Frequent	39
HP:0000383	HP:0004467	Preauricular pit	2	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1		73
HP:0000383	HP:0004464	Postauricular pit	2	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1		73
HP:0000383	HP:0004464	Postauricular pit	2	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0000383	HP:0004467	Preauricular pit	2	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0000383	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:0000383	HP:0004467	Preauricular pit	2	H4C9 CL E G H	8294	4793	OMIM:619951
HP:0000383	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:0000383	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:0000383	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:0000383	HP:0004467	Preauricular pit	2	JAG1 CL E G H	182	6188	ORPHA:3303	Tetralogy of Fallot	HP:0040282 - Frequent	257
HP:0000383	HP:0004467	Preauricular pit	2	JAG1 CL E G H	182	6188	OMIM:187500	Tetralogy of Fallot	.	257
HP:0000383	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:0000383	HP:0004467	Preauricular pit	2	KCNJ2 CL E G H	3759	6263	OMIM:170390	Andersen cardiodysrhythmic periodic paralysis	.	193
HP:0000383	HP:0004467	Preauricular pit	2	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1	.	53
HP:0000383	HP:0004467	Preauricular pit	2	KDR CL E G H	3791	6307	ORPHA:3303	Tetralogy of Fallot	HP:0040282 - Frequent	40
HP:0000383	HP:0004467	Preauricular pit	2	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1	.	660
HP:0000383	HP:0004467	Preauricular pit	2	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0000383	HP:0004467	Preauricular pit	2	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR		228
HP:0000383	HP:0004467	Preauricular pit	2	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome	HP:0040283 - Occasional	57
HP:0000383	HP:0004467	Preauricular pit	2	MITF CL E G H	4286	7105	OMIM:617306	Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness	.	91
HP:0000383	HP:0004467	Preauricular pit	2	NKX2-5 CL E G H	1482	2488	OMIM:187500	Tetralogy of Fallot	.	90
HP:0000383	HP:0004467	Preauricular pit	2	NKX2-5 CL E G H	1482	2488	ORPHA:3303	Tetralogy of Fallot	HP:0040282 - Frequent	90
HP:0000383	HP:0004467	Preauricular pit	2	NKX2-6 CL E G H	137814	32940	ORPHA:3303	Tetralogy of Fallot	HP:0040282 - Frequent	3
HP:0000383	HP:0004467	Preauricular pit	2	NPHP3 CL E G H	27031	7907	OMIM:208540	Renal-Hepatic-Pancreatic dysplasia		157
HP:0000383	HP:0004467	Preauricular pit	2	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome		118
HP:0000383	HP:0004467	Preauricular pit	2	PAX1 CL E G H	5075	8615	ORPHA:2792	Otofaciocervical syndrome	HP:0040281 - Very frequent	3
HP:0000383	HP:0004467	Preauricular pit	2	PAX1 CL E G H	5075	8615	OMIM:615560	Otofaciocervical syndrome 2		3
HP:0000383	HP:0004467	Preauricular pit	2	POLR1D CL E G H	51082	20422	OMIM:613717	Treacher collins syndrome 2		31
HP:0000383	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:0000383	HP:0004467	Preauricular pit	2	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1		31
HP:0000383	HP:0004467	Preauricular pit	2	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1	.	124
HP:0000383	HP:0004467	Preauricular pit	2	SIX1 CL E G H	6495	10887	ORPHA:52429	Branchiootic syndrome	HP:0040281 - Very frequent	50
HP:0000383	HP:0004467	Preauricular pit	2	SIX1 CL E G H	6495	10887	OMIM:608389	Branchiootic syndrome 3		50
HP:0000383	HP:0004467	Preauricular pit	2	SIX1 CL E G H	6495	10887	OMIM:113650	Branchiootorenal syndrome 1		50
HP:0000383	HP:0004467	Preauricular pit	2	SIX1 CL E G H	6495	10887	OMIM:605192	Deafness, autosomal dominant 23	HP:0040283 - Occasional	50
HP:0000383	HP:0004467	Preauricular pit	2	SPECC1L CL E G H	23384	29022	OMIM:145420	Hypertelorism, Teebi type	.	6
HP:0000383	HP:0004467	Preauricular pit	2	SPECC1L CL E G H	23384	29022	ORPHA:1519	SPECC1L-related hypertelorism syndrome	HP:0040282 - Frequent	6
HP:0000383	HP:0004467	Preauricular pit	2	STAG2 CL E G H	10735	11355	OMIM:301022	Neurodevelopmental disorder, X-linked, with craniofacial abnormalities	.	1
HP:0000383	HP:0004464	Postauricular pit	2	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82		1
HP:0000383	HP:0004467	Preauricular pit	2	TBX1 CL E G H	6899	11592	OMIM:187500	Tetralogy of Fallot	.	32
HP:0000383	HP:0004467	Preauricular pit	2	TBX1 CL E G H	6899	11592	ORPHA:3303	Tetralogy of Fallot	HP:0040282 - Frequent	32
HP:0000383	HP:0004467	Preauricular pit	2	TFAP2A CL E G H	7020	11742	ORPHA:1297	Branchio-oculo-facial syndrome	HP:0040281 - Very frequent	12
HP:0000383	HP:0004464	Postauricular pit	2	TFAP2A CL E G H	7020	11742	ORPHA:1297	Branchio-oculo-facial syndrome	HP:0040281 - Very frequent	12
HP:0000383	HP:0008606	Supraauricular pit	2	TFAP2A CL E G H	7020	11742	ORPHA:1297	Branchio-oculo-facial syndrome	HP:0040281 - Very frequent	12
HP:0000383	HP:0004467	Preauricular pit	2	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome		12
HP:0000383	HP:0004464	Postauricular pit	2	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome	.	12
HP:0000383	HP:0008606	Supraauricular pit	2	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome	.	12
HP:0000383	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:0000383	HP:0004467	Preauricular pit	2	WBP11 CL E G H	51729	16461	OMIM:619227	VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS; VCTERL
HP:0000383	HP:0004467	Preauricular pit	2	XYLT2 CL E G H	64132	15517	ORPHA:85194	Spondylo-ocular syndrome	HP:0040283 - Occasional	5
HP:0000383	HP:0004467	Preauricular pit	2	ZFPM2 CL E G H	23414	16700	OMIM:187500	Tetralogy of Fallot	.	31
HP:0000383	HP:0004467	Preauricular pit	2	ZFPM2 CL E G H	23414	16700	ORPHA:3303	Tetralogy of Fallot	HP:0040282 - Frequent	31
HP:0000383	HP:0004467	Preauricular pit	2	ZNF462 CL E G H	58499	21684	OMIM:618619	WEISS-KRUSZKA SYNDROME; WSKA		4