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:0010781	HP:0010781	Skin dimple	0	AEBP1 CL E G H	165	303	ORPHA:536532	Classical-like Ehlers-Danlos syndrome type 2
HP:0010781	HP:0010781	Skin dimple	0	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS		1
HP:0010781	HP:0010781	Skin dimple	0	ALPL CL E G H	249	438	OMIM:241510	Hypophosphatasia, childhood		126
HP:0010781	HP:0010781	Skin dimple	0	ALPL CL E G H	249	438	OMIM:241500	Hypophosphatasia, infantile		126
HP:0010781	HP:0010781	Skin dimple	0	ANK1 CL E G H	286	492	ORPHA:251066	8p11.2 deletion syndrome		150
HP:0010781	HP:0010781	Skin dimple	0	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1		219
HP:0010781	HP:0010781	Skin dimple	0	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome		145
HP:0010781	HP:0010781	Skin dimple	0	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome		36
HP:0010781	HP:0010781	Skin dimple	0	B9D2 CL E G H	80776	28636	OMIM:614175	Meckel syndrome, type 10		34
HP:0010781	HP:0010781	Skin dimple	0	BAP1 CL E G H	8314	950	OMIM:619762	KURY-ISIDOR SYNDROME; KURIS		184
HP:0010781	HP:0010781	Skin dimple	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0010781	HP:0010781	Skin dimple	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0010781	HP:0010781	Skin dimple	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0010781	HP:0010781	Skin dimple	0	CAMK2G CL E G H	818	1463	OMIM:618522	Intellectual developmental disorder 59		1
HP:0010781	HP:0010781	Skin dimple	0	CAPN15 CL E G H	6650	11182	OMIM:619318	OCULOGASTROINTESTINAL NEURODEVELOPMENTAL SYNDROME; OGIN
HP:0010781	HP:0010781	Skin dimple	0	CCL2 CL E G H	6347	10618	OMIM:182940	Neural tube defects, susceptibility to		3
HP:0010781	HP:0010781	Skin dimple	0	CD96 CL E G H	10225	16892	ORPHA:1308	C syndrome		83
HP:0010781	HP:0010781	Skin dimple	0	CDK10 CL E G H	8558	1770	OMIM:617694	Al Kaissi syndrome		2
HP:0010781	HP:0010781	Skin dimple	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0010781	HP:0010781	Skin dimple	0	COL25A1 CL E G H	84570	18603	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita	HP:0040283 - Occasional	3
HP:0010781	HP:0010781	Skin dimple	0	COLEC10 CL E G H	10584	2220	OMIM:248340	3MC syndrome 3		3
HP:0010781	HP:0010781	Skin dimple	0	COX7B CL E G H	1349	2291	ORPHA:2556	Microphthalmia with linear skin defects syndrome		6
HP:0010781	HP:0010781	Skin dimple	0	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome		1
HP:0010781	HP:0010781	Skin dimple	0	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome		1
HP:0010781	HP:0010781	Skin dimple	0	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome		2
HP:0010781	HP:0010781	Skin dimple	0	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0010781	HP:0010781	Skin dimple	0	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder		20
HP:0010781	HP:0010781	Skin dimple	0	CTCF CL E G H	10664	13723	OMIM:615502	Mental retardation, autosomal dominant 21		20
HP:0010781	HP:0010781	Skin dimple	0	DCHS1 CL E G H	8642	13681	OMIM:601390	Van maldergem syndrome 1		27
HP:0010781	HP:0010781	Skin dimple	0	DEAF1 CL E G H	10522	14677	OMIM:615828	Mental retardation, autosomal dominant 24		33
HP:0010781	HP:0010781	Skin dimple	0	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome		159
HP:0010781	HP:0010781	Skin dimple	0	DHPS CL E G H	1725	2869	OMIM:618480	Neurodevelopmental disorder with seizures and speech and walking impairment
HP:0010781	HP:0010781	Skin dimple	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0010781	HP:0010781	Skin dimple	0	DPAGT1 CL E G H	1798	2995	OMIM:608093	Congenital disorder of glycosylation, type Ij	.	38
HP:0010781	HP:0010781	Skin dimple	0	DPAGT1 CL E G H	1798	2995	ORPHA:86309	DPAGT1-CDG	HP:0040283 - Occasional	38
HP:0010781	HP:0010781	Skin dimple	0	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome		14
HP:0010781	HP:0010781	Skin dimple	0	DVL1 CL E G H	1855	3084	OMIM:180700	Robinow syndrome, autosomal dominant 1		14
HP:0010781	HP:0010781	Skin dimple	0	DVL1 CL E G H	1855	3084	OMIM:616331	Robinow syndrome, autosomal dominant 2		14
HP:0010781	HP:0010781	Skin dimple	0	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome		5
HP:0010781	HP:0010781	Skin dimple	0	DVL3 CL E G H	1857	3087	OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3		5
HP:0010781	HP:0010781	Skin dimple	0	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion		134
HP:0010781	HP:0010781	Skin dimple	0	EBP CL E G H	10682	3133	ORPHA:401973	MEND syndrome		51
HP:0010781	HP:0010781	Skin dimple	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0010781	HP:0010781	Skin dimple	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome		172
HP:0010781	HP:0010781	Skin dimple	0	EPHB4 CL E G H	2050	3395	ORPHA:90186	Meige disease	HP:0040282 - Frequent	3
HP:0010781	HP:0010781	Skin dimple	0	ERGIC1 CL E G H	57222	29205	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita	HP:0040283 - Occasional
HP:0010781	HP:0010781	Skin dimple	0	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome		3
HP:0010781	HP:0010781	Skin dimple	0	FANCB CL E G H	2187	3583	OMIM:314390	VACTERL association, X-linked		58
HP:0010781	HP:0010781	Skin dimple	0	FANCF CL E G H	2188	3587	OMIM:603467	FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF		87
HP:0010781	HP:0010781	Skin dimple	0	FAT4 CL E G H	79633	23109	OMIM:615546	Van maldergem syndrome 2		114
HP:0010781	HP:0010781	Skin dimple	0	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0010781	HP:0010781	Skin dimple	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0010781	HP:0010781	Skin dimple	0	FUZ CL E G H	80199	26219	OMIM:182940	Neural tube defects, susceptibility to		3
HP:0010781	HP:0010781	Skin dimple	0	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome
HP:0010781	HP:0010781	Skin dimple	0	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0010781	HP:0010781	Skin dimple	0	GRB10 CL E G H	2887	4564	ORPHA:96182	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
HP:0010781	HP:0010781	Skin dimple	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome		1
HP:0010781	HP:0010781	Skin dimple	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome		1
HP:0010781	HP:0010781	Skin dimple	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome		1
HP:0010781	HP:0010781	Skin dimple	0	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0010781	HP:0010781	Skin dimple	0	HCCS CL E G H	3052	4837	ORPHA:2556	Microphthalmia with linear skin defects syndrome		11
HP:0010781	HP:0010781	Skin dimple	0	HIC1 CL E G H	3090	4909	ORPHA:531	Miller-Dieker syndrome
HP:0010781	HP:0010781	Skin dimple	0	HNRNPK CL E G H	3190	5044	OMIM:616580	Au-Kline syndrome		8
HP:0010781	HP:0010781	Skin dimple	0	HOXA13 CL E G H	3209	5102	ORPHA:2438	Hand-foot-genital syndrome		11
HP:0010781	HP:0010781	Skin dimple	0	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome		283
HP:0010781	HP:0010781	Skin dimple	0	KANSL1 CL E G H	284058	24565	OMIM:610443	Koolen-De Vries syndrome		283
HP:0010781	HP:0010781	Skin dimple	0	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation		283
HP:0010781	HP:0010781	Skin dimple	0	KCNK9 CL E G H	51305	6283	OMIM:612292	BIRK-BAREL SYNDROME		4
HP:0010781	HP:0010781	Skin dimple	0	KCNK9 CL E G H	51305	6283	ORPHA:166108	Intellectual disability, Birk-Barel type		4
HP:0010781	HP:0010781	Skin dimple	0	KIF15 CL E G H	56992	17273	ORPHA:261323	21q22.11q22.12 microdeletion syndrome
HP:0010781	HP:0010781	Skin dimple	0	KMT2A CL E G H	4297	7132	ORPHA:319182	Wiedemann-Steiner syndrome		91
HP:0010781	HP:0010781	Skin dimple	0	KMT2A CL E G H	4297	7132	OMIM:605130	Wiedemann-Steiner syndrome		91
HP:0010781	HP:0010781	Skin dimple	0	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome		2
HP:0010781	HP:0010781	Skin dimple	0	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0010781	HP:0010781	Skin dimple	0	LIFR CL E G H	3977	6597	ORPHA:3206	Stüve-Wiedemann syndrome		144
HP:0010781	HP:0010781	Skin dimple	0	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome		88
HP:0010781	HP:0010781	Skin dimple	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0010781	HP:0010781	Skin dimple	0	MAN2C1 CL E G H	4123	6827	OMIM:619775	CONGENITAL DISORDER OF DEGLYCOSYLATION 2; CDDG2
HP:0010781	HP:0010781	Skin dimple	0	MASP1 CL E G H	5648	6901	OMIM:257920	3mc syndrome 1		21
HP:0010781	HP:0010781	Skin dimple	0	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1		228
HP:0010781	HP:0010781	Skin dimple	0	MED12 CL E G H	9968	11957	OMIM:305450	Opitz-Kaveggia syndrome		228
HP:0010781	HP:0010781	Skin dimple	0	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome		1
HP:0010781	HP:0010781	Skin dimple	0	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome		1
HP:0010781	HP:0010781	Skin dimple	0	NADSYN1 CL E G H	55191	29832	OMIM:618845	VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 3; VCRL3
HP:0010781	HP:0010781	Skin dimple	0	NCAPG2 CL E G H	54892	21904	OMIM:618460	Khan-Khan-Katsanis syndrome		2
HP:0010781	HP:0010781	Skin dimple	0	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome		13
HP:0010781	HP:0010781	Skin dimple	0	NDUFB11 CL E G H	54539	20372	ORPHA:2556	Microphthalmia with linear skin defects syndrome		3
HP:0010781	HP:0010781	Skin dimple	0	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome
HP:0010781	HP:0010781	Skin dimple	0	NSD2 CL E G H	7468	12766	OMIM:619695	RAUCH-STEINDL SYNDROME; RAUST		118
HP:0010781	HP:0010781	Skin dimple	0	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome		118
HP:0010781	HP:0010781	Skin dimple	0	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome		118
HP:0010781	HP:0010781	Skin dimple	0	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome		84
HP:0010781	HP:0010781	Skin dimple	0	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome		2
HP:0010781	HP:0010781	Skin dimple	0	ODC1 CL E G H	4953	8109	ORPHA:544488	Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome		1
HP:0010781	HP:0010781	Skin dimple	0	OTUD6B CL E G H	51633	24281	ORPHA:505237	Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome		4
HP:0010781	HP:0010781	Skin dimple	0	OTUD6B CL E G H	51633	24281	OMIM:617452	Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies		4
HP:0010781	HP:0010781	Skin dimple	0	PAFAH1B1 CL E G H	5048	8574	ORPHA:531	Miller-Dieker syndrome		231
HP:0010781	HP:0010781	Skin dimple	0	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome		7
HP:0010781	HP:0010781	Skin dimple	0	POLA1 CL E G H	5422	9173	OMIM:301030	Van esch-o'driscoll syndrome		2
HP:0010781	HP:0010781	Skin dimple	0	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC		1
HP:0010781	HP:0010781	Skin dimple	0	PSMD12 CL E G H	5718	9557	OMIM:617516	Stankiewicz-Isidor syndrome		4
HP:0010781	HP:0010781	Skin dimple	0	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1		31
HP:0010781	HP:0010781	Skin dimple	0	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0010781	HP:0010781	Skin dimple	0	RMRP CL E G H	6023	10031	ORPHA:175	Cartilage-hair hypoplasia		37
HP:0010781	HP:0010781	Skin dimple	0	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome		120
HP:0010781	HP:0010781	Skin dimple	0	RPL10 CL E G H	6134	10298	ORPHA:459070	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome		10
HP:0010781	HP:0010781	Skin dimple	0	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome		11
HP:0010781	HP:0010781	Skin dimple	0	SCYL2 CL E G H	55681	19286	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita	HP:0040283 - Occasional
HP:0010781	HP:0010781	Skin dimple	0	SETD5 CL E G H	55209	25566	OMIM:615761	MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD23		43
HP:0010781	HP:0010781	Skin dimple	0	SHANK3 CL E G H	85358	14294	ORPHA:48652	Monosomy 22q13.3		53
HP:0010781	HP:0010781	Skin dimple	0	SHANK3 CL E G H	85358	14294	OMIM:606232	Phelan-Mcdermid syndrome		53
HP:0010781	HP:0010781	Skin dimple	0	SMG9 CL E G H	56006	25763	OMIM:619995			2
HP:0010781	HP:0010781	Skin dimple	0	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia		109
HP:0010781	HP:0010781	Skin dimple	0	SOX9 CL E G H	6662	11204	ORPHA:140	Campomelic dysplasia	HP:0040282 - Frequent	109
HP:0010781	HP:0010781	Skin dimple	0	SPOP CL E G H	8405	11254	OMIM:618828	NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS1		16
HP:0010781	HP:0010781	Skin dimple	0	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0010781	HP:0010781	Skin dimple	0	SUGCT CL E G H	79783	16001	ORPHA:35706	Glutaric acidemia type 3		8
HP:0010781	HP:0010781	Skin dimple	0	TAF1 CL E G H	6872	11535	OMIM:300966	MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33		21
HP:0010781	HP:0010781	Skin dimple	0	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0010781	HP:0010781	Skin dimple	0	TBX4 CL E G H	9496	11603	ORPHA:261279	17q23.1q23.2 microdeletion syndrome		55
HP:0010781	HP:0010781	Skin dimple	0	TBXT CL E G H	6862	11515	OMIM:182940	Neural tube defects, susceptibility to
HP:0010781	HP:0010781	Skin dimple	0	TCF4 CL E G H	6925	11634	OMIM:610954	Pitt-Hopkins syndrome		241
HP:0010781	HP:0010781	Skin dimple	0	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome		6
HP:0010781	HP:0010781	Skin dimple	0	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0010781	HP:0010781	Skin dimple	0	USP9X CL E G H	8239	12632	OMIM:300968	Mental retardation, X-linked 99, syndromic, female-restricted		27
HP:0010781	HP:0010781	Skin dimple	0	USP9X CL E G H	8239	12632	ORPHA:480880	X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability		27
HP:0010781	HP:0010781	Skin dimple	0	VANGL1 CL E G H	81839	15512	OMIM:182940	Neural tube defects, susceptibility to		111
HP:0010781	HP:0010781	Skin dimple	0	VANGL2 CL E G H	57216	15511	OMIM:182940	Neural tube defects, susceptibility to		2
HP:0010781	HP:0010781	Skin dimple	0	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0010781	HP:0010781	Skin dimple	0	WLS CL E G H	79971	30238	OMIM:619648	ZAKI SYNDROME; ZKS
HP:0010781	HP:0010781	Skin dimple	0	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome		98
HP:0010781	HP:0010781	Skin dimple	0	WNT5A CL E G H	7474	12784	OMIM:180700	Robinow syndrome, autosomal dominant 1		98
HP:0010781	HP:0010781	Skin dimple	0	YWHAE CL E G H	7531	12851	ORPHA:531	Miller-Dieker syndrome		14
HP:0010781	HP:0010781	Skin dimple	0	ZIC3 CL E G H	7547	12874	OMIM:314390	VACTERL association, X-linked		39
HP:0010781	HP:0010781	Skin dimple	0	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0010781	HP:0040251	Hand dimple	1	CL E G H
HP:0010781	HP:0000960	Sacral dimple	1	AEBP1 CL E G H	165	303	ORPHA:536532	Classical-like Ehlers-Danlos syndrome type 2	HP:0040283 - Occasional
HP:0010781	HP:0000960	Sacral dimple	1	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS		1
HP:0010781	HP:0001024	Skin dimple over apex of long bone angulation	1	ALPL CL E G H	249	438	OMIM:241510	Hypophosphatasia, childhood	.	126
HP:0010781	HP:0001024	Skin dimple over apex of long bone angulation	1	ALPL CL E G H	249	438	OMIM:241500	Hypophosphatasia, infantile	.	126
HP:0010781	HP:0000960	Sacral dimple	1	ANK1 CL E G H	286	492	ORPHA:251066	8p11.2 deletion syndrome	HP:0040283 - Occasional	150
HP:0010781	HP:0000960	Sacral dimple	1	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1		219
HP:0010781	HP:0000960	Sacral dimple	1	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome	.	145
HP:0010781	HP:0000960	Sacral dimple	1	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome	HP:0040283 - Occasional	36
HP:0010781	HP:0000960	Sacral dimple	1	B9D2 CL E G H	80776	28636	OMIM:614175	Meckel syndrome, type 10	.	34
HP:0010781	HP:0000960	Sacral dimple	1	BAP1 CL E G H	8314	950	OMIM:619762	KURY-ISIDOR SYNDROME; KURIS		184
HP:0010781	HP:0000960	Sacral dimple	1	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0010781	HP:0000960	Sacral dimple	1	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0010781	HP:0000960	Sacral dimple	1	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0010781	HP:0000960	Sacral dimple	1	CAMK2G CL E G H	818	1463	OMIM:618522	Intellectual developmental disorder 59		1
HP:0010781	HP:0000960	Sacral dimple	1	CAPN15 CL E G H	6650	11182	OMIM:619318	OCULOGASTROINTESTINAL NEURODEVELOPMENTAL SYNDROME; OGIN
HP:0010781	HP:0000960	Sacral dimple	1	CCL2 CL E G H	6347	10618	OMIM:182940	Neural tube defects, susceptibility to	.	3
HP:0010781	HP:0000960	Sacral dimple	1	CD96 CL E G H	10225	16892	ORPHA:1308	C syndrome	HP:0040282 - Frequent	83
HP:0010781	HP:0000960	Sacral dimple	1	CDK10 CL E G H	8558	1770	OMIM:617694	Al Kaissi syndrome	.	2
HP:0010781	HP:0000960	Sacral dimple	1	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0010781	HP:0000960	Sacral dimple	1	COLEC10 CL E G H	10584	2220	OMIM:248340	3MC syndrome 3		3
HP:0010781	HP:0000960	Sacral dimple	1	COX7B CL E G H	1349	2291	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional	6
HP:0010781	HP:0000960	Sacral dimple	1	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent	1
HP:0010781	HP:0000960	Sacral dimple	1	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome	HP:0040283 - Occasional	1
HP:0010781	HP:0000960	Sacral dimple	1	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent	2
HP:0010781	HP:0000960	Sacral dimple	1	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome	HP:0040283 - Occasional	2
HP:0010781	HP:0000960	Sacral dimple	1	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder	HP:0040283 - Occasional	20
HP:0010781	HP:0000960	Sacral dimple	1	CTCF CL E G H	10664	13723	OMIM:615502	Mental retardation, autosomal dominant 21		20
HP:0010781	HP:0000960	Sacral dimple	1	DCHS1 CL E G H	8642	13681	OMIM:601390	Van maldergem syndrome 1	.	27
HP:0010781	HP:0000960	Sacral dimple	1	DEAF1 CL E G H	10522	14677	OMIM:615828	Mental retardation, autosomal dominant 24	HP:0040283 - Occasional	33
HP:0010781	HP:0000960	Sacral dimple	1	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome		159
HP:0010781	HP:0000960	Sacral dimple	1	DHPS CL E G H	1725	2869	OMIM:618480	Neurodevelopmental disorder with seizures and speech and walking impairment	.
HP:0010781	HP:0000960	Sacral dimple	1	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0010781	HP:0000960	Sacral dimple	1	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional	14
HP:0010781	HP:0000960	Sacral dimple	1	DVL1 CL E G H	1855	3084	OMIM:180700	Robinow syndrome, autosomal dominant 1		14
HP:0010781	HP:0000960	Sacral dimple	1	DVL1 CL E G H	1855	3084	OMIM:616331	Robinow syndrome, autosomal dominant 2		14
HP:0010781	HP:0000960	Sacral dimple	1	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional	5
HP:0010781	HP:0000960	Sacral dimple	1	DVL3 CL E G H	1857	3087	OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3		5
HP:0010781	HP:0000960	Sacral dimple	1	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion	HP:0040284 - Very rare	134
HP:0010781	HP:0000960	Sacral dimple	1	EBP CL E G H	10682	3133	ORPHA:401973	MEND syndrome	HP:0040282 - Frequent	51
HP:0010781	HP:0000960	Sacral dimple	1	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0010781	HP:0000960	Sacral dimple	1	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	172
HP:0010781	HP:0000960	Sacral dimple	1	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome	HP:0040283 - Occasional	3
HP:0010781	HP:0000960	Sacral dimple	1	FANCB CL E G H	2187	3583	OMIM:314390	VACTERL association, X-linked		58
HP:0010781	HP:0000960	Sacral dimple	1	FANCF CL E G H	2188	3587	OMIM:603467	FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF		87
HP:0010781	HP:0000960	Sacral dimple	1	FAT4 CL E G H	79633	23109	OMIM:615546	Van maldergem syndrome 2	.	114
HP:0010781	HP:0000960	Sacral dimple	1	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome	HP:0040283 - Occasional
HP:0010781	HP:0000960	Sacral dimple	1	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0010781	HP:0000960	Sacral dimple	1	FUZ CL E G H	80199	26219	OMIM:182940	Neural tube defects, susceptibility to	.	3
HP:0010781	HP:0000960	Sacral dimple	1	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional
HP:0010781	HP:0000960	Sacral dimple	1	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0010781	HP:0010782	Shoulder dimple	1	GRB10 CL E G H	2887	4564	ORPHA:96182	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7	HP:0040283 - Occasional
HP:0010781	HP:0000960	Sacral dimple	1	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0010781	HP:0000960	Sacral dimple	1	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0010781	HP:0000960	Sacral dimple	1	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0010781	HP:0000960	Sacral dimple	1	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0010781	HP:0000960	Sacral dimple	1	HCCS CL E G H	3052	4837	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional	11
HP:0010781	HP:0000960	Sacral dimple	1	HIC1 CL E G H	3090	4909	ORPHA:531	Miller-Dieker syndrome	HP:0040283 - Occasional
HP:0010781	HP:0000960	Sacral dimple	1	HNRNPK CL E G H	3190	5044	OMIM:616580	Au-Kline syndrome	.	8
HP:0010781	HP:0000960	Sacral dimple	1	HOXA13 CL E G H	3209	5102	ORPHA:2438	Hand-foot-genital syndrome	HP:0040283 - Occasional	11
HP:0010781	HP:0000960	Sacral dimple	1	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome	HP:0040283 - Occasional	283
HP:0010781	HP:0000960	Sacral dimple	1	KANSL1 CL E G H	284058	24565	OMIM:610443	Koolen-De Vries syndrome	.	283
HP:0010781	HP:0000960	Sacral dimple	1	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation	HP:0040283 - Occasional	283
HP:0010781	HP:0000960	Sacral dimple	1	KCNK9 CL E G H	51305	6283	OMIM:612292	BIRK-BAREL SYNDROME		4
HP:0010781	HP:0000960	Sacral dimple	1	KCNK9 CL E G H	51305	6283	ORPHA:166108	Intellectual disability, Birk-Barel type	HP:0040282 - Frequent	4
HP:0010781	HP:0000960	Sacral dimple	1	KIF15 CL E G H	56992	17273	ORPHA:261323	21q22.11q22.12 microdeletion syndrome	HP:0040283 - Occasional
HP:0010781	HP:0000960	Sacral dimple	1	KMT2A CL E G H	4297	7132	OMIM:605130	Wiedemann-Steiner syndrome	HP:0040283 - Occasional	91
HP:0010781	HP:0000960	Sacral dimple	1	KMT2A CL E G H	4297	7132	ORPHA:319182	Wiedemann-Steiner syndrome	HP:0040283 - Occasional	91
HP:0010781	HP:0000960	Sacral dimple	1	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent	2
HP:0010781	HP:0000960	Sacral dimple	1	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome	HP:0040283 - Occasional	2
HP:0010781	HP:0000960	Sacral dimple	1	LIFR CL E G H	3977	6597	ORPHA:3206	Stüve-Wiedemann syndrome	HP:0040283 - Occasional	144
HP:0010781	HP:0000960	Sacral dimple	1	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome	HP:0040283 - Occasional	88
HP:0010781	HP:0000960	Sacral dimple	1	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0010781	HP:0000960	Sacral dimple	1	MAN2C1 CL E G H	4123	6827	OMIM:619775	CONGENITAL DISORDER OF DEGLYCOSYLATION 2; CDDG2
HP:0010781	HP:0000960	Sacral dimple	1	MASP1 CL E G H	5648	6901	OMIM:257920	3mc syndrome 1	.	21
HP:0010781	HP:0000960	Sacral dimple	1	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1	HP:0040283 - Occasional	228
HP:0010781	HP:0000960	Sacral dimple	1	MED12 CL E G H	9968	11957	OMIM:305450	Opitz-Kaveggia syndrome	.	228
HP:0010781	HP:0000960	Sacral dimple	1	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0010781	HP:0000960	Sacral dimple	1	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0010781	HP:0000960	Sacral dimple	1	NADSYN1 CL E G H	55191	29832	OMIM:618845	VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 3; VCRL3
HP:0010781	HP:0000960	Sacral dimple	1	NCAPG2 CL E G H	54892	21904	OMIM:618460	Khan-Khan-Katsanis syndrome	.	2
HP:0010781	HP:0000960	Sacral dimple	1	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	13
HP:0010781	HP:0000960	Sacral dimple	1	NDUFB11 CL E G H	54539	20372	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional	3
HP:0010781	HP:0000960	Sacral dimple	1	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent
HP:0010781	HP:0000960	Sacral dimple	1	NSD2 CL E G H	7468	12766	OMIM:619695	RAUCH-STEINDL SYNDROME; RAUST		118
HP:0010781	HP:0000960	Sacral dimple	1	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent	118
HP:0010781	HP:0000960	Sacral dimple	1	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome	HP:0040283 - Occasional	118
HP:0010781	HP:0000960	Sacral dimple	1	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome	HP:0040283 - Occasional	84
HP:0010781	HP:0000960	Sacral dimple	1	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040283 - Occasional	2
HP:0010781	HP:0000960	Sacral dimple	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:0010781	HP:0000960	Sacral dimple	1	OTUD6B CL E G H	51633	24281	ORPHA:505237	Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome	HP:0040282 - Frequent	4
HP:0010781	HP:0000960	Sacral dimple	1	OTUD6B CL E G H	51633	24281	OMIM:617452	Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies		4
HP:0010781	HP:0000960	Sacral dimple	1	PAFAH1B1 CL E G H	5048	8574	ORPHA:531	Miller-Dieker syndrome	HP:0040283 - Occasional	231
HP:0010781	HP:0000960	Sacral dimple	1	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent	7
HP:0010781	HP:0000960	Sacral dimple	1	POLA1 CL E G H	5422	9173	OMIM:301030	Van esch-o'driscoll syndrome		2
HP:0010781	HP:0000960	Sacral dimple	1	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC		1
HP:0010781	HP:0000960	Sacral dimple	1	PSMD12 CL E G H	5718	9557	OMIM:617516	Stankiewicz-Isidor syndrome		4
HP:0010781	HP:0000960	Sacral dimple	1	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1		31
HP:0010781	HP:0000960	Sacral dimple	1	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0010781	HP:0000960	Sacral dimple	1	RMRP CL E G H	6023	10031	ORPHA:175	Cartilage-hair hypoplasia	HP:0040283 - Occasional	37
HP:0010781	HP:0000960	Sacral dimple	1	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040283 - Occasional	120
HP:0010781	HP:0000960	Sacral dimple	1	RPL10 CL E G H	6134	10298	ORPHA:459070	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome	HP:0040283 - Occasional	10
HP:0010781	HP:0000960	Sacral dimple	1	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome		11
HP:0010781	HP:0000960	Sacral dimple	1	SETD5 CL E G H	55209	25566	OMIM:615761	MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD23		43
HP:0010781	HP:0000960	Sacral dimple	1	SHANK3 CL E G H	85358	14294	ORPHA:48652	Monosomy 22q13.3	HP:0040282 - Frequent	53
HP:0010781	HP:0000960	Sacral dimple	1	SHANK3 CL E G H	85358	14294	OMIM:606232	Phelan-Mcdermid syndrome		53
HP:0010781	HP:0000960	Sacral dimple	1	SMG9 CL E G H	56006	25763	OMIM:619995			2
HP:0010781	HP:0032538	Pretibial dimple	1	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia		109
HP:0010781	HP:0000960	Sacral dimple	1	SPOP CL E G H	8405	11254	OMIM:618828	NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS1		16
HP:0010781	HP:0000960	Sacral dimple	1	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0010781	HP:0000960	Sacral dimple	1	SUGCT CL E G H	79783	16001	ORPHA:35706	Glutaric acidemia type 3	HP:0040283 - Occasional	8
HP:0010781	HP:0000960	Sacral dimple	1	TAF1 CL E G H	6872	11535	OMIM:300966	MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33		21
HP:0010781	HP:0000960	Sacral dimple	1	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0010781	HP:0000960	Sacral dimple	1	TBX4 CL E G H	9496	11603	ORPHA:261279	17q23.1q23.2 microdeletion syndrome	HP:0040283 - Occasional	55
HP:0010781	HP:0000960	Sacral dimple	1	TBXT CL E G H	6862	11515	OMIM:182940	Neural tube defects, susceptibility to	.
HP:0010781	HP:0000960	Sacral dimple	1	TCF4 CL E G H	6925	11634	OMIM:610954	Pitt-Hopkins syndrome		241
HP:0010781	HP:0000960	Sacral dimple	1	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome	.	6
HP:0010781	HP:0000960	Sacral dimple	1	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0010781	HP:0000960	Sacral dimple	1	USP9X CL E G H	8239	12632	OMIM:300968	Mental retardation, X-linked 99, syndromic, female-restricted		27
HP:0010781	HP:0000960	Sacral dimple	1	USP9X CL E G H	8239	12632	ORPHA:480880	X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability	HP:0040283 - Occasional	27
HP:0010781	HP:0000960	Sacral dimple	1	VANGL1 CL E G H	81839	15512	OMIM:182940	Neural tube defects, susceptibility to	.	111
HP:0010781	HP:0000960	Sacral dimple	1	VANGL2 CL E G H	57216	15511	OMIM:182940	Neural tube defects, susceptibility to	.	2
HP:0010781	HP:0000960	Sacral dimple	1	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0010781	HP:0000960	Sacral dimple	1	WLS CL E G H	79971	30238	OMIM:619648	ZAKI SYNDROME; ZKS
HP:0010781	HP:0000960	Sacral dimple	1	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional	98
HP:0010781	HP:0000960	Sacral dimple	1	WNT5A CL E G H	7474	12784	OMIM:180700	Robinow syndrome, autosomal dominant 1		98
HP:0010781	HP:0000960	Sacral dimple	1	YWHAE CL E G H	7531	12851	ORPHA:531	Miller-Dieker syndrome	HP:0040283 - Occasional	14
HP:0010781	HP:0000960	Sacral dimple	1	ZIC3 CL E G H	7547	12874	OMIM:314390	VACTERL association, X-linked		39
HP:0010781	HP:0000960	Sacral dimple	1	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS