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:0012471	HP:0012471	Thick vermilion border	0	ABCC9 CL E G H	10060	60	OMIM:239850	Hypertrichotic osteochondrodysplasia		254
HP:0012471	HP:0012471	Thick vermilion border	0	ABCC9 CL E G H	10060	60	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type	HP:0040281 - Very frequent	254
HP:0012471	HP:0012471	Thick vermilion border	0	ACER3 CL E G H	55331	16066	OMIM:617762	Leukodystrophy, progressive, early childhood-onset
HP:0012471	HP:0012471	Thick vermilion border	0	ACSL4 CL E G H	2182	3571	ORPHA:86818	Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome	HP:0040282 - Frequent	19
HP:0012471	HP:0012471	Thick vermilion border	0	ADAM22 CL E G H	53616	201	OMIM:617933	Epileptic encephalopathy, early infantile, 61	.
HP:0012471	HP:0012471	Thick vermilion border	0	ADAMTS2 CL E G H	9509	218	OMIM:225410	Ehlers-Danlos syndrome, type VII, autosomal recessive	.	165
HP:0012471	HP:0012471	Thick vermilion border	0	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome	HP:0040283 - Occasional	9
HP:0012471	HP:0012471	Thick vermilion border	0	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome		47
HP:0012471	HP:0012471	Thick vermilion border	0	ADNP CL E G H	23394	15766	OMIM:615873	Helsmoortel-van der Aa syndrome		47
HP:0012471	HP:0012471	Thick vermilion border	0	AFF2 CL E G H	2334	3776	ORPHA:100973	FRAXE intellectual disability	HP:0040282 - Frequent	59
HP:0012471	HP:0012471	Thick vermilion border	0	AFF2 CL E G H	2334	3776	OMIM:309548	Mental retardation, X-linked, associated with fragile site fraxe		59
HP:0012471	HP:0012471	Thick vermilion border	0	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS		1
HP:0012471	HP:0012471	Thick vermilion border	0	AGA CL E G H	175	318	OMIM:208400	ASPARTYLGLUCOSAMINURIA		76
HP:0012471	HP:0012471	Thick vermilion border	0	AGA CL E G H	175	318	ORPHA:93	Aspartylglucosaminuria	HP:0040281 - Very frequent	76
HP:0012471	HP:0012471	Thick vermilion border	0	AIMP2 CL E G H	7965	20609	OMIM:618006	Leukodystrophy, hypomyelinating, 17		1
HP:0012471	HP:0012471	Thick vermilion border	0	AIP CL E G H	9049	358	ORPHA:963	Acromegaly		95
HP:0012471	HP:0012471	Thick vermilion border	0	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis		34
HP:0012471	HP:0012471	Thick vermilion border	0	AMMECR1 CL E G H	9949	467	ORPHA:86818	Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome	HP:0040282 - Frequent	2
HP:0012471	HP:0012471	Thick vermilion border	0	ANKRD11 CL E G H	29123	21316	ORPHA:261250	16q24.3 microdeletion syndrome	HP:0040283 - Occasional	102
HP:0012471	HP:0012471	Thick vermilion border	0	ANTXR1 CL E G H	84168	21014	OMIM:230740	Gapo syndrome		8
HP:0012471	HP:0012471	Thick vermilion border	0	AP1S2 CL E G H	8905	560	OMIM:304340	Pettigrew syndrome	.	13
HP:0012471	HP:0012471	Thick vermilion border	0	AP2M1 CL E G H	1173	564	ORPHA:1942	Myoclonic-astatic epilepsy
HP:0012471	HP:0012471	Thick vermilion border	0	AP4S1 CL E G H	11154	575	OMIM:614067	Spastic paraplegia 52, autosomal recessive	.	18
HP:0012471	HP:0012471	Thick vermilion border	0	APC CL E G H	324	583	ORPHA:261584	Familial adenomatous polyposis due to 5q22.2 microdeletion		3179
HP:0012471	HP:0012471	Thick vermilion border	0	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome		88
HP:0012471	HP:0012471	Thick vermilion border	0	ARID1A CL E G H	8289	11110	OMIM:614607	Coffin-Siris syndrome 2		88
HP:0012471	HP:0012471	Thick vermilion border	0	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome		219
HP:0012471	HP:0012471	Thick vermilion border	0	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1		219
HP:0012471	HP:0012471	Thick vermilion border	0	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome		25
HP:0012471	HP:0012471	Thick vermilion border	0	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome		5
HP:0012471	HP:0012471	Thick vermilion border	0	ATP6V1B2 CL E G H	526	854	OMIM:616455	Zimmermann-Laband syndrome 2	.	5
HP:0012471	HP:0012471	Thick vermilion border	0	ATRX CL E G H	546	886	ORPHA:847	Alpha-thalassemia-X-linked intellectual disability syndrome		169
HP:0012471	HP:0012471	Thick vermilion border	0	ATRX CL E G H	546	886	OMIM:301040	Alpha-Thalassemia/mental retardation syndrome, X-linked		169
HP:0012471	HP:0012471	Thick vermilion border	0	ATRX CL E G H	546	886	OMIM:309580	Mental retardation-hypotonic facies syndrome, X-linked, 1		169
HP:0012471	HP:0012471	Thick vermilion border	0	AUTS2 CL E G H	26053	14262	OMIM:615834	Mental retardation, autosomal dominant 26	HP:0040283 - Occasional	61
HP:0012471	HP:0012471	Thick vermilion border	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0012471	HP:0012471	Thick vermilion border	0	BCAS3 CL E G H	54828	14347	OMIM:619641	HENGEL-MAROOFIAN-SCHOLS SYNDROME; HEMARS		2
HP:0012471	HP:0012471	Thick vermilion border	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0012471	HP:0012471	Thick vermilion border	0	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1		276
HP:0012471	HP:0012471	Thick vermilion border	0	BRAF CL E G H	673	1097	OMIM:613706	Noonan syndrome 7		276
HP:0012471	HP:0012471	Thick vermilion border	0	BRCA1 CL E G H	672	1100	OMIM:617883	Fanconi anemia, complementation group S		5769
HP:0012471	HP:0012471	Thick vermilion border	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0012471	HP:0012471	Thick vermilion border	0	C12ORF57 CL E G H	113246	29521	ORPHA:1777	Temtamy syndrome		13
HP:0012471	HP:0012471	Thick vermilion border	0	CA2 CL E G H	760	1373	ORPHA:2785	Osteopetrosis with renal tubular acidosis		29
HP:0012471	HP:0012471	Thick vermilion border	0	CAMTA1 CL E G H	23261	18806	OMIM:614756	Cerebellar ataxia, nonprogressive, with mental retardation		34
HP:0012471	HP:0012471	Thick vermilion border	0	CAMTA1 CL E G H	23261	18806	ORPHA:314647	Non-progressive cerebellar ataxia with intellectual disability		34
HP:0012471	HP:0012471	Thick vermilion border	0	CBL CL E G H	867	1541	ORPHA:648	Noonan syndrome		317
HP:0012471	HP:0012471	Thick vermilion border	0	CBL CL E G H	867	1541	OMIM:613563	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia	.	317
HP:0012471	HP:0012471	Thick vermilion border	0	CCDC8 CL E G H	83987	25367	OMIM:614205	THREE M SYNDROME 3; 3M3		5
HP:0012471	HP:0012471	Thick vermilion border	0	CDC45 CL E G H	8318	1739	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040283 - Occasional	9
HP:0012471	HP:0012471	Thick vermilion border	0	CDC6 CL E G H	990	1744	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040283 - Occasional	31
HP:0012471	HP:0012471	Thick vermilion border	0	CDC6 CL E G H	990	1744	OMIM:613805	Meier-Gorlin syndrome 5		31
HP:0012471	HP:0012471	Thick vermilion border	0	CDH11 CL E G H	1009	1750	OMIM:211380	Elsahy-Waters syndrome		2
HP:0012471	HP:0012471	Thick vermilion border	0	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder		8
HP:0012471	HP:0012471	Thick vermilion border	0	CDKL5 CL E G H	6792	11411	ORPHA:505652	CDKL5-deficiency disorder	HP:0040282 - Frequent	405
HP:0012471	HP:0012471	Thick vermilion border	0	CDKL5 CL E G H	6792	11411	OMIM:300672	Developmental and epileptic encephalopathy 2		405
HP:0012471	HP:0012471	Thick vermilion border	0	CDT1 CL E G H	81620	24576	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040283 - Occasional	50
HP:0012471	HP:0012471	Thick vermilion border	0	CDT1 CL E G H	81620	24576	OMIM:613804	Meier-Gorlin syndrome 4		50
HP:0012471	HP:0012471	Thick vermilion border	0	CHD2 CL E G H	1106	1917	ORPHA:1942	Myoclonic-astatic epilepsy		227
HP:0012471	HP:0012471	Thick vermilion border	0	CILK1 CL E G H	22858	21219	OMIM:612651	ENDOCRINE-CEREBROOSTEODYSPLASIA
HP:0012471	HP:0012471	Thick vermilion border	0	CIT CL E G H	11113	1985	OMIM:617090	Microcephaly 17, primary, autosomal recessive	.	15
HP:0012471	HP:0012471	Thick vermilion border	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0012471	HP:0012471	Thick vermilion border	0	CNTNAP1 CL E G H	8506	8011	OMIM:618186	Neuropathy, congenital hypomyelinating, 3	.	9
HP:0012471	HP:0012471	Thick vermilion border	0	COG6 CL E G H	57511	18621	ORPHA:363523	Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome	HP:0040282 - Frequent	71
HP:0012471	HP:0012471	Thick vermilion border	0	COG7 CL E G H	91949	18622	OMIM:608779	Congenital disorder of glycosylation, type IIe	.	64
HP:0012471	HP:0012471	Thick vermilion border	0	COL11A1 CL E G H	1301	2186	OMIM:154780	Marshall syndrome		215
HP:0012471	HP:0012471	Thick vermilion border	0	COL11A1 CL E G H	1301	2186	ORPHA:560	Marshall syndrome		215
HP:0012471	HP:0012471	Thick vermilion border	0	CUL4B CL E G H	8450	2555	OMIM:300354	Mental retardation, X-linked, syndromic, Cabezas type		38
HP:0012471	HP:0012471	Thick vermilion border	0	CUL4B CL E G H	8450	2555	ORPHA:85293	X-linked intellectual disability, Cabezas type		38
HP:0012471	HP:0012471	Thick vermilion border	0	CUL7 CL E G H	9820	21024	OMIM:273750	3-M syndrome 1		127
HP:0012471	HP:0012471	Thick vermilion border	0	CWC27 CL E G H	10283	10664	OMIM:250410	Retinitis pigmentosa with or without skeletal anomalies		4
HP:0012471	HP:0012471	Thick vermilion border	0	CYP24A1 CL E G H	1591	2602	OMIM:143880	Hypercalcemia, infantile, 1		73
HP:0012471	HP:0012471	Thick vermilion border	0	DEAF1 CL E G H	10522	14677	OMIM:615828	Mental retardation, autosomal dominant 24		33
HP:0012471	HP:0012471	Thick vermilion border	0	DENND5A CL E G H	23258	19344	OMIM:617281	Epileptic encephalopathy, early infantile, 49		6
HP:0012471	HP:0012471	Thick vermilion border	0	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional	1
HP:0012471	HP:0012471	Thick vermilion border	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0012471	HP:0012471	Thick vermilion border	0	DOCK7 CL E G H	85440	19190	ORPHA:411986	Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome	HP:0040283 - Occasional	11
HP:0012471	HP:0012471	Thick vermilion border	0	DOCK7 CL E G H	85440	19190	OMIM:615859	Epileptic encephalopathy, early infantile, 23	.	11
HP:0012471	HP:0012471	Thick vermilion border	0	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome
HP:0012471	HP:0012471	Thick vermilion border	0	DPF2 CL E G H	5977	9964	OMIM:618027	Coffin-Siris syndrome 7
HP:0012471	HP:0012471	Thick vermilion border	0	DPYSL5 CL E G H	56896	20637	OMIM:619435	RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0012471	HP:0012471	Thick vermilion border	0	DYRK1A CL E G H	1859	3091	OMIM:614104	Mental retardation, autosomal dominant 7		134
HP:0012471	HP:0012471	Thick vermilion border	0	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS		25
HP:0012471	HP:0012471	Thick vermilion border	0	ECM1 CL E G H	1893	3153	ORPHA:530	Lipoid proteinosis		14
HP:0012471	HP:0012471	Thick vermilion border	0	EDA CL E G H	1896	3157	OMIM:305100	Ectodermal dysplasia 1, hypohidrotic, X-linked	.	115
HP:0012471	HP:0012471	Thick vermilion border	0	EDAR CL E G H	10913	2895	ORPHA:1810	Autosomal dominant hypohidrotic ectodermal dysplasia	HP:0040283 - Occasional	86
HP:0012471	HP:0012471	Thick vermilion border	0	EDAR CL E G H	10913	2895	OMIM:224900	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive	.	86
HP:0012471	HP:0012471	Thick vermilion border	0	EDARADD CL E G H	128178	14341	ORPHA:1810	Autosomal dominant hypohidrotic ectodermal dysplasia	HP:0040283 - Occasional	56
HP:0012471	HP:0012471	Thick vermilion border	0	EDARADD CL E G H	128178	14341	OMIM:224900	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive	.	56
HP:0012471	HP:0012471	Thick vermilion border	0	EDEM3 CL E G H	80267	16787	OMIM:619493	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v; CDG2V
HP:0012471	HP:0012471	Thick vermilion border	0	EHMT1 CL E G H	79813	24650	ORPHA:261652	Kleefstra syndrome due to a point mutation		223
HP:0012471	HP:0012471	Thick vermilion border	0	EIF2S3 CL E G H	1968	3267	ORPHA:85282	MEHMO syndrome	HP:0040281 - Very frequent	8
HP:0012471	HP:0012471	Thick vermilion border	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0012471	HP:0012471	Thick vermilion border	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome		172
HP:0012471	HP:0012471	Thick vermilion border	0	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome		172
HP:0012471	HP:0012471	Thick vermilion border	0	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome		40
HP:0012471	HP:0012471	Thick vermilion border	0	ERF CL E G H	2077	3444	OMIM:617180	Chitayat syndrome	.	12
HP:0012471	HP:0012471	Thick vermilion border	0	ERMARD CL E G H	55780	21056	ORPHA:75857	6q terminal deletion syndrome	HP:0040282 - Frequent	36
HP:0012471	HP:0012471	Thick vermilion border	0	EXOSC1 CL E G H	51013	17286	OMIM:619304	PONTOCEREBELLAR HYPOPLASIA, TYPE 1F; PCH1F
HP:0012471	HP:0012471	Thick vermilion border	0	EXOSC5 CL E G H	56915	24662	OMIM:619576	CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS; CABAC
HP:0012471	HP:0012471	Thick vermilion border	0	FBN1 CL E G H	2200	3603	ORPHA:969	Acromicric dysplasia		1361
HP:0012471	HP:0012471	Thick vermilion border	0	FBN1 CL E G H	2200	3603	OMIM:102370	Acromicric dysplasia		1361
HP:0012471	HP:0012471	Thick vermilion border	0	FBXO31 CL E G H	79791	16510	OMIM:615979	Mental retardation, autosomal recessive 45		8
HP:0012471	HP:0012471	Thick vermilion border	0	FIBP CL E G H	9158	3705	ORPHA:500095	Tall stature-intellectual disability-renal anomalies syndrome	HP:0040282 - Frequent	2
HP:0012471	HP:0012471	Thick vermilion border	0	FIBP CL E G H	9158	3705	OMIM:617107	Thauvin-Robinet-Faivre syndrome	.	2
HP:0012471	HP:0012471	Thick vermilion border	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0012471	HP:0012471	Thick vermilion border	0	FLNA CL E G H	2316	3754	OMIM:314400	Cardiac valvular dysplasia, X-linked	HP:0040284 - Very rare	493
HP:0012471	HP:0012471	Thick vermilion border	0	FLNA CL E G H	2316	3754	ORPHA:555877	FLNA-related X-linked myxomatous valvular dysplasia		493
HP:0012471	HP:0012471	Thick vermilion border	0	FOXP1 CL E G H	27086	3823	ORPHA:391372	Intellectual disability-severe speech delay-mild dysmorphism syndrome	HP:0040282 - Frequent	184
HP:0012471	HP:0012471	Thick vermilion border	0	FRMD4A CL E G H	55691	25491	ORPHA:466688	Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome		1
HP:0012471	HP:0012471	Thick vermilion border	0	FTSJ1 CL E G H	24140	13254	OMIM:309549	Mental retardation, X-linked 9		13
HP:0012471	HP:0012471	Thick vermilion border	0	FUCA1 CL E G H	2517	4006	OMIM:230000	FUCOSIDOSIS		43
HP:0012471	HP:0012471	Thick vermilion border	0	GALNT2 CL E G H	2590	4124	OMIM:618885	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T
HP:0012471	HP:0012471	Thick vermilion border	0	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		39
HP:0012471	HP:0012471	Thick vermilion border	0	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		34
HP:0012471	HP:0012471	Thick vermilion border	0	GLA CL E G H	2717	4296	ORPHA:324	Fabry disease		291
HP:0012471	HP:0012471	Thick vermilion border	0	GMNN CL E G H	51053	17493	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040283 - Occasional	3
HP:0012471	HP:0012471	Thick vermilion border	0	GMNN CL E G H	51053	17493	OMIM:616835	Meier-Gorlin syndrome 6		3
HP:0012471	HP:0012471	Thick vermilion border	0	GNAI1 CL E G H	2770	4384	OMIM:619854
HP:0012471	HP:0012471	Thick vermilion border	0	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID		69
HP:0012471	HP:0012471	Thick vermilion border	0	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1		73
HP:0012471	HP:0012471	Thick vermilion border	0	GPC4 CL E G H	2239	4452	OMIM:301026	Keipert syndrome
HP:0012471	HP:0012471	Thick vermilion border	0	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0012471	HP:0012471	Thick vermilion border	0	GPR101 CL E G H	83550	14963	ORPHA:963	Acromegaly		5
HP:0012471	HP:0012471	Thick vermilion border	0	GRIA1 CL E G H	2890	4571	OMIM:619927			3
HP:0012471	HP:0012471	Thick vermilion border	0	GRIA3 CL E G H	2892	4573	ORPHA:364028	X-linked intellectual disability due to GRIA3 mutations	HP:0040283 - Occasional	30
HP:0012471	HP:0012471	Thick vermilion border	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome		1
HP:0012471	HP:0012471	Thick vermilion border	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome		1
HP:0012471	HP:0012471	Thick vermilion border	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome		1
HP:0012471	HP:0012471	Thick vermilion border	0	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0012471	HP:0012471	Thick vermilion border	0	HDAC4 CL E G H	9759	14063	OMIM:619797	NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES; NEDCHF		33
HP:0012471	HP:0012471	Thick vermilion border	0	HECW2 CL E G H	57520	29853	OMIM:617268	Neurodevelopmental disorder with hypotonia, seizures, and absent language		11
HP:0012471	HP:0012471	Thick vermilion border	0	HNRNPH2 CL E G H	3188	5042	OMIM:300986	MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB		3
HP:0012471	HP:0012471	Thick vermilion border	0	HRAS CL E G H	3265	5173	ORPHA:3071	Costello syndrome		113
HP:0012471	HP:0012471	Thick vermilion border	0	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome		113
HP:0012471	HP:0012471	Thick vermilion border	0	HUWE1 CL E G H	10075	30892	OMIM:309590	Mental retardation, x-linked syndromic, Turner type		98
HP:0012471	HP:0012471	Thick vermilion border	0	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form	HP:0040283 - Occasional	86
HP:0012471	HP:0012471	Thick vermilion border	0	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form	HP:0040283 - Occasional	86
HP:0012471	HP:0012471	Thick vermilion border	0	IDS CL E G H	3423	5389	OMIM:309900	Mucopolysaccharidosis, type II		86
HP:0012471	HP:0012471	Thick vermilion border	0	IDUA CL E G H	3425	5391	ORPHA:93473	Hurler syndrome	HP:0040282 - Frequent	115
HP:0012471	HP:0012471	Thick vermilion border	0	IDUA CL E G H	3425	5391	OMIM:607014	Hurler syndrome	.	115
HP:0012471	HP:0012471	Thick vermilion border	0	IDUA CL E G H	3425	5391	OMIM:607015	Hurler-Scheie syndrome	.	115
HP:0012471	HP:0012471	Thick vermilion border	0	IDUA CL E G H	3425	5391	ORPHA:93474	Scheie syndrome	HP:0040282 - Frequent	115
HP:0012471	HP:0012471	Thick vermilion border	0	IFT52 CL E G H	51098	15901	OMIM:617102	Short-Rib thoracic dysplasia 16 with or without polydactyly		4
HP:0012471	HP:0012471	Thick vermilion border	0	INSR CL E G H	3643	6091	OMIM:246200	Donohue syndrome		229
HP:0012471	HP:0012471	Thick vermilion border	0	INSR CL E G H	3643	6091	ORPHA:508	Leprechaunism	HP:0040283 - Occasional	229
HP:0012471	HP:0012471	Thick vermilion border	0	KAT5 CL E G H	10524	5275	OMIM:619103	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB		1
HP:0012471	HP:0012471	Thick vermilion border	0	KAT8 CL E G H	84148	17933	OMIM:618974	LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME; LIGOWS
HP:0012471	HP:0012471	Thick vermilion border	0	KCNE5 CL E G H	23630	6241	ORPHA:86818	Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome	HP:0040282 - Frequent	5
HP:0012471	HP:0012471	Thick vermilion border	0	KCNH1 CL E G H	3756	6250	OMIM:611816	Temple-Baraitser syndrome	.	13
HP:0012471	HP:0012471	Thick vermilion border	0	KCNH1 CL E G H	3756	6250	ORPHA:420561	Temple-Baraitser syndrome	HP:0040282 - Frequent	13
HP:0012471	HP:0012471	Thick vermilion border	0	KCNH1 CL E G H	3756	6250	OMIM:135500	Zimmermann-Laband syndrome 1		13
HP:0012471	HP:0012471	Thick vermilion border	0	KCNJ8 CL E G H	3764	6269	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type	HP:0040281 - Very frequent	23
HP:0012471	HP:0012471	Thick vermilion border	0	KCNK9 CL E G H	51305	6283	ORPHA:166108	Intellectual disability, Birk-Barel type	HP:0040282 - Frequent	4
HP:0012471	HP:0012471	Thick vermilion border	0	KCNN3 CL E G H	3782	6292	OMIM:618658	ZIMMERMANN-LABAND SYNDROME 3; ZLS3		7
HP:0012471	HP:0012471	Thick vermilion border	0	KDF1 CL E G H	126695	26624	ORPHA:1810	Autosomal dominant hypohidrotic ectodermal dysplasia	HP:0040283 - Occasional	1
HP:0012471	HP:0012471	Thick vermilion border	0	KDM4B CL E G H	23030	29136	OMIM:619320	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0012471	HP:0012471	Thick vermilion border	0	KDM6B CL E G H	23135	29012	OMIM:618505	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	.	9
HP:0012471	HP:0012471	Thick vermilion border	0	KIF11 CL E G H	3832	6388	OMIM:152950	Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation		46
HP:0012471	HP:0012471	Thick vermilion border	0	KIF11 CL E G H	3832	6388	ORPHA:2526	Microcephaly-lymphedema-chorioretinopathy syndrome	HP:0040283 - Occasional	46
HP:0012471	HP:0012471	Thick vermilion border	0	KIF15 CL E G H	56992	17273	ORPHA:261323	21q22.11q22.12 microdeletion syndrome	HP:0040283 - Occasional
HP:0012471	HP:0012471	Thick vermilion border	0	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome		167
HP:0012471	HP:0012471	Thick vermilion border	0	KIFBP CL E G H	26128	23419	OMIM:609460	Goldberg-Shprintzen syndrome	.
HP:0012471	HP:0012471	Thick vermilion border	0	KMT2C CL E G H	58508	13726	ORPHA:261652	Kleefstra syndrome due to a point mutation		99
HP:0012471	HP:0012471	Thick vermilion border	0	KRAS CL E G H	3845	6407	ORPHA:648	Noonan syndrome		196
HP:0012471	HP:0012471	Thick vermilion border	0	KREMEN1 CL E G H	83999	17550	OMIM:617392	Ectodermal dysplasia 13, Hair/tooth type	HP:0040283 - Occasional	1
HP:0012471	HP:0012471	Thick vermilion border	0	LARP7 CL E G H	51574	24912	ORPHA:319671	Alazami syndrome	HP:0040282 - Frequent	16
HP:0012471	HP:0012471	Thick vermilion border	0	LARP7 CL E G H	51574	24912	OMIM:615071	Alazami syndrome	.	16
HP:0012471	HP:0012471	Thick vermilion border	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0012471	HP:0012471	Thick vermilion border	0	LTBP1 CL E G H	4052	6714	OMIM:619451	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE; ARCL2E
HP:0012471	HP:0012471	Thick vermilion border	0	LTBP3 CL E G H	4054	6716	ORPHA:969	Acromicric dysplasia		12
HP:0012471	HP:0012471	Thick vermilion border	0	LTBP3 CL E G H	4054	6716	OMIM:617809	Geleophysic dysplasia 3	.	12
HP:0012471	HP:0012471	Thick vermilion border	0	LZTR1 CL E G H	8216	6742	ORPHA:648	Noonan syndrome		43
HP:0012471	HP:0012471	Thick vermilion border	0	MADD CL E G H	8567	6766	OMIM:619005	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH		5
HP:0012471	HP:0012471	Thick vermilion border	0	MAN1B1 CL E G H	11253	6823	ORPHA:397941	MAN1B1-CDG	HP:0040284 - Very rare	93
HP:0012471	HP:0012471	Thick vermilion border	0	MCM5 CL E G H	4174	6948	OMIM:617564	Meier-Gorlin syndrome 8	.	2
HP:0012471	HP:0012471	Thick vermilion border	0	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1	HP:0040282 - Frequent	228
HP:0012471	HP:0012471	Thick vermilion border	0	MED12 CL E G H	9968	11957	OMIM:305450	Opitz-Kaveggia syndrome		228
HP:0012471	HP:0012471	Thick vermilion border	0	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional	1
HP:0012471	HP:0012471	Thick vermilion border	0	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome		1
HP:0012471	HP:0012471	Thick vermilion border	0	MINPP1 CL E G H	9562	7102	ORPHA:284339	Pontocerebellar hypoplasia type 7		3
HP:0012471	HP:0012471	Thick vermilion border	0	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome		1
HP:0012471	HP:0012471	Thick vermilion border	0	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome		1
HP:0012471	HP:0012471	Thick vermilion border	0	MOCS1 CL E G H	4337	7190	OMIM:252150	Molybdenum cofactor deficiency, complementation group A	.	96
HP:0012471	HP:0012471	Thick vermilion border	0	MOCS2 CL E G H	4338	7193	OMIM:252160	Molybdenum cofactor deficiency, complementation group B	.	26
HP:0012471	HP:0012471	Thick vermilion border	0	MRAS CL E G H	22808	7227	ORPHA:648	Noonan syndrome
HP:0012471	HP:0012471	Thick vermilion border	0	MRAS CL E G H	22808	7227	OMIM:618499	NOONAN SYNDROME 11; NS11
HP:0012471	HP:0012471	Thick vermilion border	0	MYCN CL E G H	4613	7559	OMIM:164280	Feingold syndrome 1	.	35
HP:0012471	HP:0012471	Thick vermilion border	0	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome		23
HP:0012471	HP:0012471	Thick vermilion border	0	NAA20 CL E G H	51126	15908	OMIM:619717	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73; MRT73
HP:0012471	HP:0012471	Thick vermilion border	0	NAGA CL E G H	4668	7631	ORPHA:79280	Alpha-N-acetylgalactosaminidase deficiency type 2	HP:0040282 - Frequent	47
HP:0012471	HP:0012471	Thick vermilion border	0	NAGA CL E G H	4668	7631	OMIM:609242	Kanzaki disease		47
HP:0012471	HP:0012471	Thick vermilion border	0	NANS CL E G H	54187	19237	OMIM:610442	Spondyloepimetaphyseal dysplasia, Genevieve type		8
HP:0012471	HP:0012471	Thick vermilion border	0	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome		13
HP:0012471	HP:0012471	Thick vermilion border	0	NEU1 CL E G H	4758	7758	ORPHA:812	Sialidosis type 1		43
HP:0012471	HP:0012471	Thick vermilion border	0	NEXMIF CL E G H	340533	29433	ORPHA:1942	Myoclonic-astatic epilepsy		52
HP:0012471	HP:0012471	Thick vermilion border	0	NF1 CL E G H	4763	7765	ORPHA:363700	Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion	HP:0040283 - Occasional	1952
HP:0012471	HP:0012471	Thick vermilion border	0	NF1 CL E G H	4763	7765	OMIM:601321	Neurofibromatosis-Noonan syndrome		1952
HP:0012471	HP:0012471	Thick vermilion border	0	NFIX CL E G H	4784	7788	ORPHA:447980	19p13.3 microduplication syndrome	HP:0040282 - Frequent	40
HP:0012471	HP:0012471	Thick vermilion border	0	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1		22
HP:0012471	HP:0012471	Thick vermilion border	0	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome	HP:0040283 - Occasional	10
HP:0012471	HP:0012471	Thick vermilion border	0	NRAS CL E G H	4893	7989	ORPHA:648	Noonan syndrome		102
HP:0012471	HP:0012471	Thick vermilion border	0	NSUN2 CL E G H	54888	25994	OMIM:611091	Mental retardation, autosomal recessive 5		84
HP:0012471	HP:0012471	Thick vermilion border	0	OBSL1 CL E G H	23363	29092	OMIM:612921	3-M syndrome 2		143
HP:0012471	HP:0012471	Thick vermilion border	0	OFD1 CL E G H	8481	2567	OMIM:300804	Joubert syndrome 10	.	201
HP:0012471	HP:0012471	Thick vermilion border	0	OGT CL E G H	8473	8127	OMIM:300997	Mental retardation, X-linked 106		4
HP:0012471	HP:0012471	Thick vermilion border	0	ORC1 CL E G H	4998	8487	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040283 - Occasional	53
HP:0012471	HP:0012471	Thick vermilion border	0	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1		53
HP:0012471	HP:0012471	Thick vermilion border	0	ORC4 CL E G H	5000	8490	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040283 - Occasional	21
HP:0012471	HP:0012471	Thick vermilion border	0	ORC6 CL E G H	23594	17151	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040283 - Occasional	39
HP:0012471	HP:0012471	Thick vermilion border	0	ORC6 CL E G H	23594	17151	OMIM:613803	Meier-Gorlin syndrome 3		39
HP:0012471	HP:0012471	Thick vermilion border	0	P4HTM CL E G H	54681	28858	OMIM:618493	Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities	.
HP:0012471	HP:0012471	Thick vermilion border	0	PAK3 CL E G H	5063	8592	OMIM:300558	MENTAL RETARDATION, X-LINKED 30; MRX30		27
HP:0012471	HP:0012471	Thick vermilion border	0	PCDHGC4 CL E G H	56098	8717	OMIM:619880
HP:0012471	HP:0012471	Thick vermilion border	0	PHGDH CL E G H	26227	8923	OMIM:256520	Neu-Laxova syndrome		37
HP:0012471	HP:0012471	Thick vermilion border	0	PIDD1 CL E G H	55367	16491	OMIM:619827	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 75, WITH NEUROPSYCHIATRIC FEATURES AND VARIANT LISSENCEPHALY; MRT75
HP:0012471	HP:0012471	Thick vermilion border	0	PIGL CL E G H	9487	8966	ORPHA:3474	CHIME syndrome	HP:0040281 - Very frequent	36
HP:0012471	HP:0012471	Thick vermilion border	0	PIGL CL E G H	9487	8966	OMIM:280000	Zunich neuroectodermal syndrome	.	36
HP:0012471	HP:0012471	Thick vermilion border	0	POU4F1 CL E G H	5457	9218	ORPHA:314647	Non-progressive cerebellar ataxia with intellectual disability
HP:0012471	HP:0012471	Thick vermilion border	0	PPP1CB CL E G H	5500	9282	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair		9
HP:0012471	HP:0012471	Thick vermilion border	0	PPP1R21 CL E G H	129285	30595	OMIM:619383	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0012471	HP:0012471	Thick vermilion border	0	PPP3CA CL E G H	5530	9314	OMIM:617711	Epileptic encephalopathy, infantile or early childhood, 1		2
HP:0012471	HP:0012471	Thick vermilion border	0	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0012471	HP:0012471	Thick vermilion border	0	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms		20
HP:0012471	HP:0012471	Thick vermilion border	0	PTDSS1 CL E G H	9791	9587	ORPHA:2658	Lenz-Majewski hyperostotic dwarfism	HP:0040282 - Frequent	6
HP:0012471	HP:0012471	Thick vermilion border	0	PTH1R CL E G H	5745	9608	OMIM:600002	Eiken syndrome		58
HP:0012471	HP:0012471	Thick vermilion border	0	PTPN11 CL E G H	5781	9644	ORPHA:648	Noonan syndrome		291
HP:0012471	HP:0012471	Thick vermilion border	0	PUS7 CL E G H	54517	26033	OMIM:618342	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature	.
HP:0012471	HP:0012471	Thick vermilion border	0	PYCR2 CL E G H	29920	30262	OMIM:616420	Leukodystrophy, hypomyelinating, 10	.	11
HP:0012471	HP:0012471	Thick vermilion border	0	RAF1 CL E G H	5894	9829	OMIM:611554	LEOPARD SYNDROME 2; LPRD2		212
HP:0012471	HP:0012471	Thick vermilion border	0	RAF1 CL E G H	5894	9829	ORPHA:648	Noonan syndrome		212
HP:0012471	HP:0012471	Thick vermilion border	0	RAF1 CL E G H	5894	9829	OMIM:611553	Noonan syndrome 5		212
HP:0012471	HP:0012471	Thick vermilion border	0	RASA2 CL E G H	5922	9872	ORPHA:648	Noonan syndrome		3
HP:0012471	HP:0012471	Thick vermilion border	0	RBL2 CL E G H	5934	9894	OMIM:619690	BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME; BRUWAG
HP:0012471	HP:0012471	Thick vermilion border	0	RBMX CL E G H	27316	9910	OMIM:300238	MENTAL RETARDATION, X-LINKED, SYNDROMIC 11; MRXS11		2
HP:0012471	HP:0012471	Thick vermilion border	0	RET CL E G H	5979	9967	OMIM:162300	Multiple endocrine neoplasia, type IIB		572
HP:0012471	HP:0012471	Thick vermilion border	0	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0012471	HP:0012471	Thick vermilion border	0	RIN2 CL E G H	54453	18750	OMIM:613075	Macs syndrome		43
HP:0012471	HP:0012471	Thick vermilion border	0	RIT1 CL E G H	6016	10023	ORPHA:648	Noonan syndrome		39
HP:0012471	HP:0012471	Thick vermilion border	0	RNF135 CL E G H	84282	21158	ORPHA:137634	Overgrowth-macrocephaly-facial dysmorphism syndrome		11
HP:0012471	HP:0012471	Thick vermilion border	0	RNF2 CL E G H	6045	10061	OMIM:619460	LUO-SCHOCH-YAMAMOTO SYNDROME; LUSYAM
HP:0012471	HP:0012471	Thick vermilion border	0	RNU4ATAC CL E G H	100151683	34016	OMIM:226960	EPIPHYSEAL DYSPLASIA, MICROCEPHALY, AND NYSTAGMUS		15
HP:0012471	HP:0012471	Thick vermilion border	0	RNU4ATAC CL E G H	100151683	34016	ORPHA:2636	Microcephalic osteodysplastic primordial dwarfism types I and III	HP:0040282 - Frequent	15
HP:0012471	HP:0012471	Thick vermilion border	0	RPS23 CL E G H	6228	10410	OMIM:617412	BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD		2
HP:0012471	HP:0012471	Thick vermilion border	0	RPS6KA3 CL E G H	6197	10432	ORPHA:192	Coffin-Lowry syndrome		65
HP:0012471	HP:0012471	Thick vermilion border	0	RPS6KA3 CL E G H	6197	10432	OMIM:300844	MENTAL RETARDATION, X-LINKED 19; MRX19		65
HP:0012471	HP:0012471	Thick vermilion border	0	RPS7 CL E G H	6201	10440	OMIM:612563	Diamond-Blackfan anemia 8		20
HP:0012471	HP:0012471	Thick vermilion border	0	RRAS CL E G H	6237	10447	ORPHA:648	Noonan syndrome
HP:0012471	HP:0012471	Thick vermilion border	0	RRAS2 CL E G H	22800	17271	ORPHA:648	Noonan syndrome		1
HP:0012471	HP:0012471	Thick vermilion border	0	RSPRY1 CL E G H	89970	29420	ORPHA:457395	Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome	HP:0040281 - Very frequent	2
HP:0012471	HP:0012471	Thick vermilion border	0	RSPRY1 CL E G H	89970	29420	OMIM:616723	Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type	.	2
HP:0012471	HP:0012471	Thick vermilion border	0	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional
HP:0012471	HP:0012471	Thick vermilion border	0	SC5D CL E G H	6309	10547	OMIM:607330	LATHOSTEROLOSIS		80
HP:0012471	HP:0012471	Thick vermilion border	0	SCN1A CL E G H	6323	10585	ORPHA:1942	Myoclonic-astatic epilepsy		1053
HP:0012471	HP:0012471	Thick vermilion border	0	SCUBE3 CL E G H	222663	13655	OMIM:619184	SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 2; SSFSC2		1
HP:0012471	HP:0012471	Thick vermilion border	0	SEC31A CL E G H	22872	17052	OMIM:618651	HALPERIN-BIRK SYNDROME; HLBKS
HP:0012471	HP:0012471	Thick vermilion border	0	SET CL E G H	6418	10760	OMIM:618106	Mental retardation, autosomal dominant 58	.	1
HP:0012471	HP:0012471	Thick vermilion border	0	SETBP1 CL E G H	26040	15573	OMIM:616078	Mental retardation, autosomal dominant 29		143
HP:0012471	HP:0012471	Thick vermilion border	0	SETD1B CL E G H	23067	29187	OMIM:619000	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEIZURES AND LANGUAGE DELAY; IDDSELD
HP:0012471	HP:0012471	Thick vermilion border	0	SH3PXD2B CL E G H	285590	29242	ORPHA:137834	Frank-Ter Haar syndrome	HP:0040281 - Very frequent	134
HP:0012471	HP:0012471	Thick vermilion border	0	SHOC2 CL E G H	8036	15454	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair		74
HP:0012471	HP:0012471	Thick vermilion border	0	SIN3A CL E G H	25942	19353	ORPHA:94065	15q24 microdeletion syndrome		9
HP:0012471	HP:0012471	Thick vermilion border	0	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome		9
HP:0012471	HP:0012471	Thick vermilion border	0	SLC2A1 CL E G H	6513	11005	ORPHA:1942	Myoclonic-astatic epilepsy		255
HP:0012471	HP:0012471	Thick vermilion border	0	SLC35A2 CL E G H	7355	11022	OMIM:300896	Congenital disorder of glycosylation, type IIm	.	27
HP:0012471	HP:0012471	Thick vermilion border	0	SLC6A1 CL E G H	6529	11042	ORPHA:1942	Myoclonic-astatic epilepsy		29
HP:0012471	HP:0012471	Thick vermilion border	0	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome		146
HP:0012471	HP:0012471	Thick vermilion border	0	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome		617
HP:0012471	HP:0012471	Thick vermilion border	0	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome		87
HP:0012471	HP:0012471	Thick vermilion border	0	SMARCB1 CL E G H	6598	11103	OMIM:614608	Coffin-Siris syndrome 3		87
HP:0012471	HP:0012471	Thick vermilion border	0	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome		1
HP:0012471	HP:0012471	Thick vermilion border	0	SMARCC2 CL E G H	6601	11105	OMIM:618362	Coffin-Siris syndrome 8		1
HP:0012471	HP:0012471	Thick vermilion border	0	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome
HP:0012471	HP:0012471	Thick vermilion border	0	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome		47
HP:0012471	HP:0012471	Thick vermilion border	0	SMARCE1 CL E G H	6605	11109	OMIM:616938	Coffin-Siris syndrome 5		47
HP:0012471	HP:0012471	Thick vermilion border	0	SMG8 CL E G H	55181	25551	OMIM:619268	ALZAHRANI-KUWAHARA SYNDROME; ALKUS
HP:0012471	HP:0012471	Thick vermilion border	0	SMG9 CL E G H	56006	25763	OMIM:616920	Heart and brain malformation syndrome		2
HP:0012471	HP:0012471	Thick vermilion border	0	SMS CL E G H	6611	11123	OMIM:309583	Mental retardation, X-linked, syndromic, Snyder-Robinson type		19
HP:0012471	HP:0012471	Thick vermilion border	0	SMS CL E G H	6611	11123	ORPHA:3063	X-linked intellectual disability, Snyder type		19
HP:0012471	HP:0012471	Thick vermilion border	0	SNX14 CL E G H	57231	14977	ORPHA:397709	Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome	HP:0040283 - Occasional	14
HP:0012471	HP:0012471	Thick vermilion border	0	SNX14 CL E G H	57231	14977	OMIM:616354	Spinocerebellar ataxia, autosomal recessive 20	.	14
HP:0012471	HP:0012471	Thick vermilion border	0	SOS1 CL E G H	6654	11187	ORPHA:648	Noonan syndrome		315
HP:0012471	HP:0012471	Thick vermilion border	0	SOS1 CL E G H	6654	11187	OMIM:610733	Noonan syndrome 4		315
HP:0012471	HP:0012471	Thick vermilion border	0	SOS2 CL E G H	6655	11188	ORPHA:648	Noonan syndrome		30
HP:0012471	HP:0012471	Thick vermilion border	0	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome		14
HP:0012471	HP:0012471	Thick vermilion border	0	SOX11 CL E G H	6664	11191	OMIM:615866	Mental retardation, autosomal dominant 27	.	14
HP:0012471	HP:0012471	Thick vermilion border	0	SOX18 CL E G H	54345	11194	OMIM:137940	Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome	.	7
HP:0012471	HP:0012471	Thick vermilion border	0	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome
HP:0012471	HP:0012471	Thick vermilion border	0	SPATA5L1 CL E G H	79029	28762	OMIM:619616	NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY; NEDHLS
HP:0012471	HP:0012471	Thick vermilion border	0	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS		4
HP:0012471	HP:0012471	Thick vermilion border	0	SPRED2 CL E G H	200734	17722	ORPHA:648	Noonan syndrome
HP:0012471	HP:0012471	Thick vermilion border	0	SPRED2 CL E G H	200734	17722	OMIM:619745	NOONAN SYNDROME 14; NS14
HP:0012471	HP:0012471	Thick vermilion border	0	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0012471	HP:0012471	Thick vermilion border	0	SRD5A3 CL E G H	79644	25812	OMIM:612713	Kahrizi syndrome		80
HP:0012471	HP:0012471	Thick vermilion border	0	STAG2 CL E G H	10735	11355	ORPHA:521258	Xq25 microduplication syndrome	HP:0040282 - Frequent	1
HP:0012471	HP:0012471	Thick vermilion border	0	STRADA CL E G H	92335	30172	OMIM:611087	Polyhydramnios, megalencephaly, and symptomatic epilepsy		6
HP:0012471	HP:0012471	Thick vermilion border	0	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0012471	HP:0012471	Thick vermilion border	0	SUPT16H CL E G H	11198	11465	OMIM:619480	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC
HP:0012471	HP:0012471	Thick vermilion border	0	SYNGAP1 CL E G H	8831	11497	ORPHA:1942	Myoclonic-astatic epilepsy		108
HP:0012471	HP:0012471	Thick vermilion border	0	TASP1 CL E G H	55617	15859	OMIM:618950	SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0012471	HP:0012471	Thick vermilion border	0	TBC1D24 CL E G H	57465	29203	OMIM:220500	Doors syndrome		271
HP:0012471	HP:0012471	Thick vermilion border	0	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome		271
HP:0012471	HP:0012471	Thick vermilion border	0	TBCK CL E G H	93627	28261	OMIM:616900	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3		13
HP:0012471	HP:0012471	Thick vermilion border	0	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0012471	HP:0012471	Thick vermilion border	0	TCF4 CL E G H	6925	11634	ORPHA:2896	Pitt-Hopkins syndrome	HP:0040281 - Very frequent	241
HP:0012471	HP:0012471	Thick vermilion border	0	TFAP2B CL E G H	7021	11743	ORPHA:46627	Char syndrome	HP:0040281 - Very frequent	104
HP:0012471	HP:0012471	Thick vermilion border	0	TFE3 CL E G H	7030	11752	OMIM:301066	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0012471	HP:0012471	Thick vermilion border	0	THOC6 CL E G H	79228	28369	ORPHA:363444	THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome		1
HP:0012471	HP:0012471	Thick vermilion border	0	TMEM147 CL E G H	10430	30414	OMIM:620075
HP:0012471	HP:0012471	Thick vermilion border	0	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0012471	HP:0012471	Thick vermilion border	0	TMEM53 CL E G H	79639	26186	OMIM:619727	CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE; CTDI
HP:0012471	HP:0012471	Thick vermilion border	0	TOE1 CL E G H	114034	15954	ORPHA:284339	Pontocerebellar hypoplasia type 7		6
HP:0012471	HP:0012471	Thick vermilion border	0	TOE1 CL E G H	114034	15954	OMIM:614969	Pontocerebellar hypoplasia, type 7		6
HP:0012471	HP:0012471	Thick vermilion border	0	TRAF6 CL E G H	7189	12036	ORPHA:1810	Autosomal dominant hypohidrotic ectodermal dysplasia	HP:0040283 - Occasional
HP:0012471	HP:0012471	Thick vermilion border	0	TRIO CL E G H	7204	12303	OMIM:617061	Mental retardation, autosomal dominant 44	.	8
HP:0012471	HP:0012471	Thick vermilion border	0	TSPEAR CL E G H	54084	1268	OMIM:618180	Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis	.	39
HP:0012471	HP:0012471	Thick vermilion border	0	TWIST2 CL E G H	117581	20670	OMIM:227260	FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE; FFDD3		7
HP:0012471	HP:0012471	Thick vermilion border	0	UGDH CL E G H	7358	12525	OMIM:618792	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84; DEE84
HP:0012471	HP:0012471	Thick vermilion border	0	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:0012471	HP:0012471	Thick vermilion border	0	VPS33A CL E G H	65082	18179	ORPHA:505248	Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders	HP:0040283 - Occasional	1
HP:0012471	HP:0012471	Thick vermilion border	0	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome	.	1
HP:0012471	HP:0012471	Thick vermilion border	0	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0012471	HP:0012471	Thick vermilion border	0	VPS51 CL E G H	738	1172	OMIM:618606	PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13
HP:0012471	HP:0012471	Thick vermilion border	0	WDR26 CL E G H	80232	21208	OMIM:617616	Skraban-Deardorff syndrome		8
HP:0012471	HP:0012471	Thick vermilion border	0	XYLT1 CL E G H	64131	15516	ORPHA:370930	XYLT1-CDG	HP:0040282 - Frequent	14
HP:0012471	HP:0012471	Thick vermilion border	0	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome		7
HP:0012471	HP:0012471	Thick vermilion border	0	YY1 CL E G H	7528	12856	OMIM:617557	Gabriele-De vries syndrome		7
HP:0012471	HP:0012471	Thick vermilion border	0	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome		17
HP:0012471	HP:0012471	Thick vermilion border	0	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation		362
HP:0012471	HP:0012471	Thick vermilion border	0	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22		362
HP:0012471	HP:0012471	Thick vermilion border	0	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0012471	HP:0012471	Thick vermilion border	0	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0012471	HP:0000215	Thick upper lip vermilion	1	ABCC9 CL E G H	10060	60	OMIM:239850	Hypertrichotic osteochondrodysplasia	.	254
HP:0012471	HP:0000179	Thick lower lip vermilion	1	ABCC9 CL E G H	10060	60	OMIM:239850	Hypertrichotic osteochondrodysplasia	.	254
HP:0012471	HP:0000179	Thick lower lip vermilion	1	ACER3 CL E G H	55331	16066	OMIM:617762	Leukodystrophy, progressive, early childhood-onset	.
HP:0012471	HP:0000179	Thick lower lip vermilion	1	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome	HP:0040283 - Occasional	47
HP:0012471	HP:0000179	Thick lower lip vermilion	1	ADNP CL E G H	23394	15766	OMIM:615873	Helsmoortel-van der Aa syndrome		47
HP:0012471	HP:0000179	Thick lower lip vermilion	1	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS		1
HP:0012471	HP:0000179	Thick lower lip vermilion	1	AGA CL E G H	175	318	OMIM:208400	ASPARTYLGLUCOSAMINURIA	.	76
HP:0012471	HP:0000179	Thick lower lip vermilion	1	AIP CL E G H	9049	358	ORPHA:963	Acromegaly	HP:0040281 - Very frequent	95
HP:0012471	HP:0000179	Thick lower lip vermilion	1	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis	.	34
HP:0012471	HP:0000179	Thick lower lip vermilion	1	ANTXR1 CL E G H	84168	21014	OMIM:230740	Gapo syndrome	.	8
HP:0012471	HP:0000179	Thick lower lip vermilion	1	AP2M1 CL E G H	1173	564	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040284 - Very rare
HP:0012471	HP:0000215	Thick upper lip vermilion	1	APC CL E G H	324	583	ORPHA:261584	Familial adenomatous polyposis due to 5q22.2 microdeletion	HP:0040282 - Frequent	3179
HP:0012471	HP:0000179	Thick lower lip vermilion	1	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome	HP:0040281 - Very frequent	88
HP:0012471	HP:0000179	Thick lower lip vermilion	1	ARID1A CL E G H	8289	11110	OMIM:614607	Coffin-Siris syndrome 2		88
HP:0012471	HP:0000179	Thick lower lip vermilion	1	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome	HP:0040281 - Very frequent	219
HP:0012471	HP:0000179	Thick lower lip vermilion	1	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1	.	219
HP:0012471	HP:0000179	Thick lower lip vermilion	1	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome	HP:0040281 - Very frequent	25
HP:0012471	HP:0000179	Thick lower lip vermilion	1	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome	HP:0040282 - Frequent	5
HP:0012471	HP:0000179	Thick lower lip vermilion	1	ATRX CL E G H	546	886	ORPHA:847	Alpha-thalassemia-X-linked intellectual disability syndrome	HP:0040282 - Frequent	169
HP:0012471	HP:0000179	Thick lower lip vermilion	1	ATRX CL E G H	546	886	OMIM:301040	Alpha-Thalassemia/mental retardation syndrome, X-linked	.	169
HP:0012471	HP:0000179	Thick lower lip vermilion	1	ATRX CL E G H	546	886	OMIM:309580	Mental retardation-hypotonic facies syndrome, X-linked, 1	.	169
HP:0012471	HP:0000179	Thick lower lip vermilion	1	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0012471	HP:0000179	Thick lower lip vermilion	1	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0012471	HP:0000215	Thick upper lip vermilion	1	BRCA1 CL E G H	672	1100	OMIM:617883	Fanconi anemia, complementation group S	.	5769
HP:0012471	HP:0000179	Thick lower lip vermilion	1	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0012471	HP:0000179	Thick lower lip vermilion	1	C12ORF57 CL E G H	113246	29521	ORPHA:1777	Temtamy syndrome	HP:0040283 - Occasional	13
HP:0012471	HP:0000179	Thick lower lip vermilion	1	CA2 CL E G H	760	1373	ORPHA:2785	Osteopetrosis with renal tubular acidosis		29
HP:0012471	HP:0000179	Thick lower lip vermilion	1	CAMTA1 CL E G H	23261	18806	OMIM:614756	Cerebellar ataxia, nonprogressive, with mental retardation	.	34
HP:0012471	HP:0000179	Thick lower lip vermilion	1	CAMTA1 CL E G H	23261	18806	ORPHA:314647	Non-progressive cerebellar ataxia with intellectual disability	HP:0040282 - Frequent	34
HP:0012471	HP:0000179	Thick lower lip vermilion	1	CBL CL E G H	867	1541	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	317
HP:0012471	HP:0000179	Thick lower lip vermilion	1	CDH11 CL E G H	1009	1750	OMIM:211380	Elsahy-Waters syndrome	.	2
HP:0012471	HP:0000215	Thick upper lip vermilion	1	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder		8
HP:0012471	HP:0000179	Thick lower lip vermilion	1	CDKL5 CL E G H	6792	11411	OMIM:300672	Developmental and epileptic encephalopathy 2	.	405
HP:0012471	HP:0000179	Thick lower lip vermilion	1	CDT1 CL E G H	81620	24576	OMIM:613804	Meier-Gorlin syndrome 4	.	50
HP:0012471	HP:0000179	Thick lower lip vermilion	1	CHD2 CL E G H	1106	1917	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040284 - Very rare	227
HP:0012471	HP:0000215	Thick upper lip vermilion	1	CILK1 CL E G H	22858	21219	OMIM:612651	ENDOCRINE-CEREBROOSTEODYSPLASIA
HP:0012471	HP:0000179	Thick lower lip vermilion	1	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0012471	HP:0000215	Thick upper lip vermilion	1	COL11A1 CL E G H	1301	2186	OMIM:154780	Marshall syndrome	.	215
HP:0012471	HP:0000215	Thick upper lip vermilion	1	COL11A1 CL E G H	1301	2186	ORPHA:560	Marshall syndrome	HP:0040281 - Very frequent	215
HP:0012471	HP:0000179	Thick lower lip vermilion	1	COL11A1 CL E G H	1301	2186	OMIM:154780	Marshall syndrome	.	215
HP:0012471	HP:0000179	Thick lower lip vermilion	1	COL11A1 CL E G H	1301	2186	ORPHA:560	Marshall syndrome	HP:0040281 - Very frequent	215
HP:0012471	HP:0000179	Thick lower lip vermilion	1	CUL4B CL E G H	8450	2555	OMIM:300354	Mental retardation, X-linked, syndromic, Cabezas type		38
HP:0012471	HP:0000179	Thick lower lip vermilion	1	CUL4B CL E G H	8450	2555	ORPHA:85293	X-linked intellectual disability, Cabezas type	HP:0040282 - Frequent	38
HP:0012471	HP:0000179	Thick lower lip vermilion	1	CUL7 CL E G H	9820	21024	OMIM:273750	3-M syndrome 1	.	127
HP:0012471	HP:0000179	Thick lower lip vermilion	1	CYP24A1 CL E G H	1591	2602	OMIM:143880	Hypercalcemia, infantile, 1	.	73
HP:0012471	HP:0000179	Thick lower lip vermilion	1	DEAF1 CL E G H	10522	14677	OMIM:615828	Mental retardation, autosomal dominant 24	.	33
HP:0012471	HP:0000215	Thick upper lip vermilion	1	DENND5A CL E G H	23258	19344	OMIM:617281	Epileptic encephalopathy, early infantile, 49	.	6
HP:0012471	HP:0000179	Thick lower lip vermilion	1	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0012471	HP:0000179	Thick lower lip vermilion	1	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome	HP:0040281 - Very frequent
HP:0012471	HP:0000179	Thick lower lip vermilion	1	DPF2 CL E G H	5977	9964	OMIM:618027	Coffin-Siris syndrome 7
HP:0012471	HP:0000179	Thick lower lip vermilion	1	DYRK1A CL E G H	1859	3091	OMIM:614104	Mental retardation, autosomal dominant 7		134
HP:0012471	HP:0000215	Thick upper lip vermilion	1	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS		25
HP:0012471	HP:0000179	Thick lower lip vermilion	1	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS		25
HP:0012471	HP:0000179	Thick lower lip vermilion	1	ECM1 CL E G H	1893	3153	ORPHA:530	Lipoid proteinosis	HP:0040281 - Very frequent	14
HP:0012471	HP:0000179	Thick lower lip vermilion	1	EHMT1 CL E G H	79813	24650	ORPHA:261652	Kleefstra syndrome due to a point mutation	HP:0040283 - Occasional	223
HP:0012471	HP:0000179	Thick lower lip vermilion	1	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0012471	HP:0000179	Thick lower lip vermilion	1	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	172
HP:0012471	HP:0000179	Thick lower lip vermilion	1	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome		172
HP:0012471	HP:0000179	Thick lower lip vermilion	1	FBN1 CL E G H	2200	3603	OMIM:102370	Acromicric dysplasia	.	1361
HP:0012471	HP:0000179	Thick lower lip vermilion	1	FBN1 CL E G H	2200	3603	ORPHA:969	Acromicric dysplasia	HP:0040282 - Frequent	1361
HP:0012471	HP:0000179	Thick lower lip vermilion	1	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0012471	HP:0000179	Thick lower lip vermilion	1	FLNA CL E G H	2316	3754	ORPHA:555877	FLNA-related X-linked myxomatous valvular dysplasia		493
HP:0012471	HP:0000179	Thick lower lip vermilion	1	FRMD4A CL E G H	55691	25491	ORPHA:466688	Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome	HP:0040282 - Frequent	1
HP:0012471	HP:0000179	Thick lower lip vermilion	1	FTSJ1 CL E G H	24140	13254	OMIM:309549	Mental retardation, X-linked 9	.	13
HP:0012471	HP:0000179	Thick lower lip vermilion	1	FUCA1 CL E G H	2517	4006	OMIM:230000	FUCOSIDOSIS	.	43
HP:0012471	HP:0000179	Thick lower lip vermilion	1	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		39
HP:0012471	HP:0000179	Thick lower lip vermilion	1	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		34
HP:0012471	HP:0000179	Thick lower lip vermilion	1	GLA CL E G H	2717	4296	ORPHA:324	Fabry disease	HP:0040282 - Frequent	291
HP:0012471	HP:0000179	Thick lower lip vermilion	1	GNAI1 CL E G H	2770	4384	OMIM:619854
HP:0012471	HP:0000179	Thick lower lip vermilion	1	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID	.	69
HP:0012471	HP:0000215	Thick upper lip vermilion	1	GPC4 CL E G H	2239	4452	OMIM:301026	Keipert syndrome	.
HP:0012471	HP:0000179	Thick lower lip vermilion	1	GPR101 CL E G H	83550	14963	ORPHA:963	Acromegaly	HP:0040281 - Very frequent	5
HP:0012471	HP:0000179	Thick lower lip vermilion	1	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0012471	HP:0000179	Thick lower lip vermilion	1	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0012471	HP:0000179	Thick lower lip vermilion	1	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0012471	HP:0000179	Thick lower lip vermilion	1	HDAC4 CL E G H	9759	14063	OMIM:619797	NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES; NEDCHF		33
HP:0012471	HP:0000179	Thick lower lip vermilion	1	HECW2 CL E G H	57520	29853	OMIM:617268	Neurodevelopmental disorder with hypotonia, seizures, and absent language	.	11
HP:0012471	HP:0000179	Thick lower lip vermilion	1	HRAS CL E G H	3265	5173	ORPHA:3071	Costello syndrome	HP:0040282 - Frequent	113
HP:0012471	HP:0000179	Thick lower lip vermilion	1	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome	.	113
HP:0012471	HP:0000179	Thick lower lip vermilion	1	HUWE1 CL E G H	10075	30892	OMIM:309590	Mental retardation, x-linked syndromic, Turner type		98
HP:0012471	HP:0000179	Thick lower lip vermilion	1	IDS CL E G H	3423	5389	OMIM:309900	Mucopolysaccharidosis, type II	.	86
HP:0012471	HP:0000179	Thick lower lip vermilion	1	INSR CL E G H	3643	6091	OMIM:246200	Donohue syndrome	.	229
HP:0012471	HP:0000179	Thick lower lip vermilion	1	KAT5 CL E G H	10524	5275	OMIM:619103	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB		1
HP:0012471	HP:0000179	Thick lower lip vermilion	1	KCNN3 CL E G H	3782	6292	OMIM:618658	ZIMMERMANN-LABAND SYNDROME 3; ZLS3		7
HP:0012471	HP:0000215	Thick upper lip vermilion	1	KDM4B CL E G H	23030	29136	OMIM:619320	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0012471	HP:0000179	Thick lower lip vermilion	1	KIF11 CL E G H	3832	6388	OMIM:152950	Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation	.	46
HP:0012471	HP:0000179	Thick lower lip vermilion	1	KIF15 CL E G H	56992	17273	ORPHA:261323	21q22.11q22.12 microdeletion syndrome	HP:0040283 - Occasional
HP:0012471	HP:0000179	Thick lower lip vermilion	1	KMT2C CL E G H	58508	13726	ORPHA:261652	Kleefstra syndrome due to a point mutation	HP:0040283 - Occasional	99
HP:0012471	HP:0000179	Thick lower lip vermilion	1	KRAS CL E G H	3845	6407	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	196
HP:0012471	HP:0000179	Thick lower lip vermilion	1	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0012471	HP:0000179	Thick lower lip vermilion	1	LTBP1 CL E G H	4052	6714	OMIM:619451	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE; ARCL2E
HP:0012471	HP:0000179	Thick lower lip vermilion	1	LTBP3 CL E G H	4054	6716	ORPHA:969	Acromicric dysplasia	HP:0040282 - Frequent	12
HP:0012471	HP:0000179	Thick lower lip vermilion	1	LZTR1 CL E G H	8216	6742	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	43
HP:0012471	HP:0000179	Thick lower lip vermilion	1	MED12 CL E G H	9968	11957	OMIM:305450	Opitz-Kaveggia syndrome	.	228
HP:0012471	HP:0000179	Thick lower lip vermilion	1	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0012471	HP:0000215	Thick upper lip vermilion	1	MINPP1 CL E G H	9562	7102	ORPHA:284339	Pontocerebellar hypoplasia type 7	HP:0040282 - Frequent	3
HP:0012471	HP:0000179	Thick lower lip vermilion	1	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0012471	HP:0000179	Thick lower lip vermilion	1	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome		1
HP:0012471	HP:0000179	Thick lower lip vermilion	1	MRAS CL E G H	22808	7227	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent
HP:0012471	HP:0000215	Thick upper lip vermilion	1	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome	.	23
HP:0012471	HP:0000215	Thick upper lip vermilion	1	NAA20 CL E G H	51126	15908	OMIM:619717	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73; MRT73
HP:0012471	HP:0000179	Thick lower lip vermilion	1	NAGA CL E G H	4668	7631	OMIM:609242	Kanzaki disease	.	47
HP:0012471	HP:0000179	Thick lower lip vermilion	1	NANS CL E G H	54187	19237	OMIM:610442	Spondyloepimetaphyseal dysplasia, Genevieve type	.	8
HP:0012471	HP:0000179	Thick lower lip vermilion	1	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	13
HP:0012471	HP:0000179	Thick lower lip vermilion	1	NEU1 CL E G H	4758	7758	ORPHA:812	Sialidosis type 1	HP:0040281 - Very frequent	43
HP:0012471	HP:0000179	Thick lower lip vermilion	1	NEXMIF CL E G H	340533	29433	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040284 - Very rare	52
HP:0012471	HP:0000215	Thick upper lip vermilion	1	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1	.	22
HP:0012471	HP:0000179	Thick lower lip vermilion	1	NRAS CL E G H	4893	7989	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	102
HP:0012471	HP:0000215	Thick upper lip vermilion	1	NSUN2 CL E G H	54888	25994	OMIM:611091	Mental retardation, autosomal recessive 5	.	84
HP:0012471	HP:0000215	Thick upper lip vermilion	1	PAK3 CL E G H	5063	8592	OMIM:300558	MENTAL RETARDATION, X-LINKED 30; MRX30		27
HP:0012471	HP:0000179	Thick lower lip vermilion	1	PHGDH CL E G H	26227	8923	OMIM:256520	Neu-Laxova syndrome	.	37
HP:0012471	HP:0000179	Thick lower lip vermilion	1	PIGL CL E G H	9487	8966	OMIM:280000	Zunich neuroectodermal syndrome	.	36
HP:0012471	HP:0000179	Thick lower lip vermilion	1	POU4F1 CL E G H	5457	9218	ORPHA:314647	Non-progressive cerebellar ataxia with intellectual disability	HP:0040282 - Frequent
HP:0012471	HP:0000179	Thick lower lip vermilion	1	PPP1CB CL E G H	5500	9282	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair	HP:0040283 - Occasional	9
HP:0012471	HP:0000179	Thick lower lip vermilion	1	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms	.	20
HP:0012471	HP:0000179	Thick lower lip vermilion	1	PTH1R CL E G H	5745	9608	OMIM:600002	Eiken syndrome		58
HP:0012471	HP:0000179	Thick lower lip vermilion	1	PTPN11 CL E G H	5781	9644	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	291
HP:0012471	HP:0000179	Thick lower lip vermilion	1	PUS7 CL E G H	54517	26033	OMIM:618342	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
HP:0012471	HP:0000179	Thick lower lip vermilion	1	RAF1 CL E G H	5894	9829	OMIM:611554	LEOPARD SYNDROME 2; LPRD2		212
HP:0012471	HP:0000179	Thick lower lip vermilion	1	RAF1 CL E G H	5894	9829	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	212
HP:0012471	HP:0000179	Thick lower lip vermilion	1	RASA2 CL E G H	5922	9872	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	3
HP:0012471	HP:0000179	Thick lower lip vermilion	1	RBMX CL E G H	27316	9910	OMIM:300238	MENTAL RETARDATION, X-LINKED, SYNDROMIC 11; MRXS11		2
HP:0012471	HP:0000179	Thick lower lip vermilion	1	RET CL E G H	5979	9967	OMIM:162300	Multiple endocrine neoplasia, type IIB	.	572
HP:0012471	HP:0000179	Thick lower lip vermilion	1	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0012471	HP:0000179	Thick lower lip vermilion	1	RIT1 CL E G H	6016	10023	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	39
HP:0012471	HP:0000179	Thick lower lip vermilion	1	RNF135 CL E G H	84282	21158	ORPHA:137634	Overgrowth-macrocephaly-facial dysmorphism syndrome	HP:0040281 - Very frequent	11
HP:0012471	HP:0000179	Thick lower lip vermilion	1	RPS23 CL E G H	6228	10410	OMIM:617412	BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD		2
HP:0012471	HP:0000179	Thick lower lip vermilion	1	RPS6KA3 CL E G H	6197	10432	ORPHA:192	Coffin-Lowry syndrome	HP:0040281 - Very frequent	65
HP:0012471	HP:0000179	Thick lower lip vermilion	1	RPS6KA3 CL E G H	6197	10432	OMIM:300844	MENTAL RETARDATION, X-LINKED 19; MRX19		65
HP:0012471	HP:0000215	Thick upper lip vermilion	1	RPS7 CL E G H	6201	10440	OMIM:612563	Diamond-Blackfan anemia 8	.	20
HP:0012471	HP:0000179	Thick lower lip vermilion	1	RRAS CL E G H	6237	10447	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent
HP:0012471	HP:0000179	Thick lower lip vermilion	1	RRAS2 CL E G H	22800	17271	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	1
HP:0012471	HP:0000215	Thick upper lip vermilion	1	SC5D CL E G H	6309	10547	OMIM:607330	LATHOSTEROLOSIS		80
HP:0012471	HP:0000179	Thick lower lip vermilion	1	SCN1A CL E G H	6323	10585	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040284 - Very rare	1053
HP:0012471	HP:0000179	Thick lower lip vermilion	1	SETD1B CL E G H	23067	29187	OMIM:619000	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEIZURES AND LANGUAGE DELAY; IDDSELD
HP:0012471	HP:0000179	Thick lower lip vermilion	1	SHOC2 CL E G H	8036	15454	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair	HP:0040283 - Occasional	74
HP:0012471	HP:0000179	Thick lower lip vermilion	1	SIN3A CL E G H	25942	19353	ORPHA:94065	15q24 microdeletion syndrome	HP:0040283 - Occasional	9
HP:0012471	HP:0000179	Thick lower lip vermilion	1	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome		9
HP:0012471	HP:0000179	Thick lower lip vermilion	1	SLC2A1 CL E G H	6513	11005	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040284 - Very rare	255
HP:0012471	HP:0000179	Thick lower lip vermilion	1	SLC6A1 CL E G H	6529	11042	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040284 - Very rare	29
HP:0012471	HP:0000179	Thick lower lip vermilion	1	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome	.	146
HP:0012471	HP:0000179	Thick lower lip vermilion	1	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome	HP:0040281 - Very frequent	617
HP:0012471	HP:0000179	Thick lower lip vermilion	1	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome	HP:0040281 - Very frequent	87
HP:0012471	HP:0000179	Thick lower lip vermilion	1	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome	HP:0040281 - Very frequent	1
HP:0012471	HP:0000179	Thick lower lip vermilion	1	SMARCC2 CL E G H	6601	11105	OMIM:618362	Coffin-Siris syndrome 8	.	1
HP:0012471	HP:0000179	Thick lower lip vermilion	1	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome	HP:0040281 - Very frequent
HP:0012471	HP:0000179	Thick lower lip vermilion	1	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome	HP:0040281 - Very frequent	47
HP:0012471	HP:0000179	Thick lower lip vermilion	1	SMARCE1 CL E G H	6605	11109	OMIM:616938	Coffin-Siris syndrome 5		47
HP:0012471	HP:0000179	Thick lower lip vermilion	1	SMG9 CL E G H	56006	25763	OMIM:616920	Heart and brain malformation syndrome	.	2
HP:0012471	HP:0000179	Thick lower lip vermilion	1	SMS CL E G H	6611	11123	OMIM:309583	Mental retardation, X-linked, syndromic, Snyder-Robinson type	.	19
HP:0012471	HP:0000179	Thick lower lip vermilion	1	SMS CL E G H	6611	11123	ORPHA:3063	X-linked intellectual disability, Snyder type	HP:0040282 - Frequent	19
HP:0012471	HP:0000179	Thick lower lip vermilion	1	SOS1 CL E G H	6654	11187	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	315
HP:0012471	HP:0000179	Thick lower lip vermilion	1	SOS2 CL E G H	6655	11188	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	30
HP:0012471	HP:0000179	Thick lower lip vermilion	1	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome	HP:0040281 - Very frequent	14
HP:0012471	HP:0000179	Thick lower lip vermilion	1	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome	HP:0040281 - Very frequent
HP:0012471	HP:0000215	Thick upper lip vermilion	1	SPATA5L1 CL E G H	79029	28762	OMIM:619616	NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY; NEDHLS
HP:0012471	HP:0000179	Thick lower lip vermilion	1	SPRED2 CL E G H	200734	17722	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent
HP:0012471	HP:0000179	Thick lower lip vermilion	1	SRD5A3 CL E G H	79644	25812	OMIM:612713	Kahrizi syndrome	.	80
HP:0012471	HP:0000179	Thick lower lip vermilion	1	STRADA CL E G H	92335	30172	OMIM:611087	Polyhydramnios, megalencephaly, and symptomatic epilepsy		6
HP:0012471	HP:0000215	Thick upper lip vermilion	1	STRADA CL E G H	92335	30172	OMIM:611087	Polyhydramnios, megalencephaly, and symptomatic epilepsy		6
HP:0012471	HP:0000179	Thick lower lip vermilion	1	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0012471	HP:0000179	Thick lower lip vermilion	1	SYNGAP1 CL E G H	8831	11497	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040284 - Very rare	108
HP:0012471	HP:0000179	Thick lower lip vermilion	1	TASP1 CL E G H	55617	15859	OMIM:618950	SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0012471	HP:0000179	Thick lower lip vermilion	1	TBC1D24 CL E G H	57465	29203	OMIM:220500	Doors syndrome		271
HP:0012471	HP:0000179	Thick lower lip vermilion	1	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome	HP:0040282 - Frequent	271
HP:0012471	HP:0000179	Thick lower lip vermilion	1	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0012471	HP:0000215	Thick upper lip vermilion	1	THOC6 CL E G H	79228	28369	ORPHA:363444	THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome	HP:0040283 - Occasional	1
HP:0012471	HP:0000179	Thick lower lip vermilion	1	TMEM147 CL E G H	10430	30414	OMIM:620075
HP:0012471	HP:0000179	Thick lower lip vermilion	1	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0012471	HP:0000215	Thick upper lip vermilion	1	TMEM53 CL E G H	79639	26186	OMIM:619727	CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE; CTDI
HP:0012471	HP:0000179	Thick lower lip vermilion	1	TMEM53 CL E G H	79639	26186	OMIM:619727	CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE; CTDI
HP:0012471	HP:0000215	Thick upper lip vermilion	1	TOE1 CL E G H	114034	15954	ORPHA:284339	Pontocerebellar hypoplasia type 7	HP:0040282 - Frequent	6
HP:0012471	HP:0000215	Thick upper lip vermilion	1	TOE1 CL E G H	114034	15954	OMIM:614969	Pontocerebellar hypoplasia, type 7	.	6
HP:0012471	HP:0000215	Thick upper lip vermilion	1	TWIST2 CL E G H	117581	20670	OMIM:227260	FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE; FFDD3		7
HP:0012471	HP:0000179	Thick lower lip vermilion	1	UGDH CL E G H	7358	12525	OMIM:618792	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84; DEE84
HP:0012471	HP:0000179	Thick lower lip vermilion	1	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0012471	HP:0000215	Thick upper lip vermilion	1	VPS51 CL E G H	738	1172	OMIM:618606	PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13
HP:0012471	HP:0000215	Thick upper lip vermilion	1	WDR26 CL E G H	80232	21208	OMIM:617616	Skraban-Deardorff syndrome	.	8
HP:0012471	HP:0000179	Thick lower lip vermilion	1	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome	HP:0040281 - Very frequent	7
HP:0012471	HP:0000179	Thick lower lip vermilion	1	YY1 CL E G H	7528	12856	OMIM:617557	Gabriele-De vries syndrome	.	7
HP:0012471	HP:0000179	Thick lower lip vermilion	1	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome		17
HP:0012471	HP:0000179	Thick lower lip vermilion	1	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation	HP:0040282 - Frequent	362
HP:0012471	HP:0000179	Thick lower lip vermilion	1	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22	HP:0040282 - Frequent	362