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:0000178	HP:0000178	Abnormal lower lip morphology	0	ABCA12 CL E G H	26154	14637	OMIM:242500	Ichthyosis, congenital, autosomal recessive 4B		130
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	ABCA12 CL E G H	26154	14637	ORPHA:313	Lamellar ichthyosis		130
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	ABCC9 CL E G H	10060	60	OMIM:239850	Hypertrichotic osteochondrodysplasia		254
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	ABHD5 CL E G H	51099	21396	OMIM:275630	Chanarin-Dorfman syndrome		90
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	ACER3 CL E G H	55331	16066	OMIM:617762	Leukodystrophy, progressive, early childhood-onset
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	ADAMTS2 CL E G H	9509	218	OMIM:225410	Ehlers-Danlos syndrome, type VII, autosomal recessive		165
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome		47
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	ADNP CL E G H	23394	15766	OMIM:615873	Helsmoortel-van der Aa syndrome		47
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS		1
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	AGA CL E G H	175	318	OMIM:208400	ASPARTYLGLUCOSAMINURIA		76
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	AIP CL E G H	9049	358	ORPHA:963	Acromegaly		95
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	ALOX12B CL E G H	242	430	OMIM:242100	Ichthyosis, congenital, autosomal recessive 2		75
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	ALOX12B CL E G H	242	430	ORPHA:313	Lamellar ichthyosis		75
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	ALOXE3 CL E G H	59344	13743	OMIM:242100	Ichthyosis, congenital, autosomal recessive 2		63
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	ALOXE3 CL E G H	59344	13743	ORPHA:313	Lamellar ichthyosis		63
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis		34
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	ANTXR1 CL E G H	84168	21014	OMIM:230740	Gapo syndrome		8
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	ANTXR1 CL E G H	84168	21014	ORPHA:2067	GAPO syndrome		8
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	AP2M1 CL E G H	1173	564	ORPHA:1942	Myoclonic-astatic epilepsy
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome		88
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	ARID1A CL E G H	8289	11110	OMIM:614607	Coffin-Siris syndrome 2		88
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome		219
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1		219
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome		25
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	ASPRV1 CL E G H	151516	26321	ORPHA:313	Lamellar ichthyosis		1
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	ASXL3 CL E G H	80816	29357	ORPHA:352577	Bainbridge-Ropers syndrome		49
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS		49
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome		5
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	ATRX CL E G H	546	886	ORPHA:847	Alpha-thalassemia-X-linked intellectual disability syndrome		169
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	ATRX CL E G H	546	886	OMIM:301040	Alpha-Thalassemia/mental retardation syndrome, X-linked		169
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	ATRX CL E G H	546	886	OMIM:309580	Mental retardation-hypotonic facies syndrome, X-linked, 1		169
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	BCAS3 CL E G H	54828	14347	OMIM:619641	HENGEL-MAROOFIAN-SCHOLS SYNDROME; HEMARS		2
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	BCL11A CL E G H	53335	13221	OMIM:617101	Intellectual developmental disorder with persistence of fetal hemoglobin		11
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	BDNF CL E G H	627	1033	ORPHA:893	WAGR syndrome		5
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	BMP2 CL E G H	650	1069	OMIM:617877	Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies		13
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	C12ORF57 CL E G H	113246	29521	ORPHA:1777	Temtamy syndrome		13
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	CA2 CL E G H	760	1373	ORPHA:2785	Osteopetrosis with renal tubular acidosis		29
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	CAMTA1 CL E G H	23261	18806	OMIM:614756	Cerebellar ataxia, nonprogressive, with mental retardation		34
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	CAMTA1 CL E G H	23261	18806	ORPHA:314647	Non-progressive cerebellar ataxia with intellectual disability		34
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	CBL CL E G H	867	1541	ORPHA:648	Noonan syndrome		317
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	CCDC8 CL E G H	83987	25367	ORPHA:2616	3M syndrome		5
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	CDH11 CL E G H	1009	1750	OMIM:211380	Elsahy-Waters syndrome		2
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	CDH11 CL E G H	1009	1750	OMIM:619736	TEEBI HYPERTELORISM SYNDROME 2; TBHS2		2
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	CDKL5 CL E G H	6792	11411	ORPHA:505652	CDKL5-deficiency disorder		405
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	CDKL5 CL E G H	6792	11411	OMIM:300672	Developmental and epileptic encephalopathy 2		405
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	CDT1 CL E G H	81620	24576	OMIM:613804	Meier-Gorlin syndrome 4		50
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	CHAMP1 CL E G H	283489	20311	OMIM:616579	Mental retardation, autosomal dominant 40		16
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	CHD2 CL E G H	1106	1917	ORPHA:1942	Myoclonic-astatic epilepsy		227
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	CHN1 CL E G H	1123	1943	ORPHA:233	Duane retraction syndrome		35
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	CLIC2 CL E G H	1193	2063	ORPHA:324410	X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome		4
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	COL11A1 CL E G H	1301	2186	ORPHA:560	Marshall syndrome		215
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	COL11A1 CL E G H	1301	2186	OMIM:154780	Marshall syndrome		215
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	CUL4B CL E G H	8450	2555	OMIM:300354	Mental retardation, X-linked, syndromic, Cabezas type		38
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	CUL4B CL E G H	8450	2555	ORPHA:85293	X-linked intellectual disability, Cabezas type		38
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	CUL7 CL E G H	9820	21024	OMIM:273750	3-M syndrome 1		127
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	CUL7 CL E G H	9820	21024	ORPHA:2616	3M syndrome		127
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	CYP24A1 CL E G H	1591	2602	OMIM:143880	Hypercalcemia, infantile, 1		73
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	CYP4F22 CL E G H	126410	26820	ORPHA:313	Lamellar ichthyosis		54
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	DEAF1 CL E G H	10522	14677	OMIM:615828	Mental retardation, autosomal dominant 24		33
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	DHX30 CL E G H	22907	16716	OMIM:617804	Neurodevelopmental disorder with severe motor impairment and absent language		4
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	DOCK7 CL E G H	85440	19190	ORPHA:411986	Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome		11
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	DPF2 CL E G H	5977	9964	OMIM:618027	Coffin-Siris syndrome 7
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	DYRK1A CL E G H	1859	3091	OMIM:614104	Mental retardation, autosomal dominant 7		134
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS		25
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	ECM1 CL E G H	1893	3153	ORPHA:530	Lipoid proteinosis		14
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	EDA CL E G H	1896	3157	OMIM:305100	Ectodermal dysplasia 1, hypohidrotic, X-linked		115
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	EDA CL E G H	1896	3157	ORPHA:181	X-linked hypohidrotic ectodermal dysplasia		115
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	EDA2R CL E G H	60401	17756	ORPHA:181	X-linked hypohidrotic ectodermal dysplasia		11
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	EDAR CL E G H	10913	2895	OMIM:224900	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive		86
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	EDARADD CL E G H	128178	14341	OMIM:224900	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive		56
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	EDARADD CL E G H	128178	14341	OMIM:614940	Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant		56
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	EDARADD CL E G H	128178	14341	OMIM:614941	Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive		56
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	EDNRA CL E G H	1909	3179	OMIM:616367	Mandibulofacial dysostosis with alopecia		3
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	EEF1A2 CL E G H	1917	3192	OMIM:616393	Mental retardation, autosomal dominant 38		60
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	EHMT1 CL E G H	79813	24650	OMIM:610253	Kleefstra syndrome		223
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	EHMT1 CL E G H	79813	24650	ORPHA:96147	Kleefstra syndrome due to 9q34 microdeletion		223
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	EHMT1 CL E G H	79813	24650	ORPHA:261652	Kleefstra syndrome due to a point mutation		223
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome		172
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome		172
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	ERCC1 CL E G H	2067	3433	ORPHA:1466	COFS syndrome		20
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	ERCC2 CL E G H	2068	3434	ORPHA:1466	COFS syndrome		106
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	ERCC5 CL E G H	2073	3437	ORPHA:1466	COFS syndrome		83
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	ERCC6 CL E G H	2074	3438	ORPHA:1466	COFS syndrome		199
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	FBN1 CL E G H	2200	3603	ORPHA:969	Acromicric dysplasia		1361
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	FBN1 CL E G H	2200	3603	OMIM:102370	Acromicric dysplasia		1361
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	FBXL4 CL E G H	26235	13601	OMIM:615471	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)		384
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	FBXO11 CL E G H	80204	13590	OMIM:618089	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities		7
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	FGD1 CL E G H	2245	3663	OMIM:305400	Aarskog-Scott syndrome		62
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	FGD1 CL E G H	2245	3663	ORPHA:915	Aarskog-Scott syndrome		62
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	FHL1 CL E G H	2273	3702	OMIM:300280	Uruguay faciocardiomusculoskeletal syndrome		68
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	FLNA CL E G H	2316	3754	ORPHA:555877	FLNA-related X-linked myxomatous valvular dysplasia		493
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	FOXC1 CL E G H	2296	3800	ORPHA:782	Axenfeld-Rieger syndrome		63
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	FOXG1 CL E G H	2290	3811	ORPHA:261144	FOXG1 syndrome due to 14q12 microdeletion		177
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	FRMD4A CL E G H	55691	25491	OMIM:616819	Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia		1
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	FRMD4A CL E G H	55691	25491	ORPHA:466688	Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome		1
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	FTSJ1 CL E G H	24140	13254	OMIM:309549	Mental retardation, X-linked 9		13
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	FUCA1 CL E G H	2517	4006	OMIM:230000	FUCOSIDOSIS		43
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	GBA1 CL E G H	2629	4177	OMIM:608013	Gaucher disease, perinatal lethal
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		39
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		34
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	GLA CL E G H	2717	4296	ORPHA:324	Fabry disease		291
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	GNAI1 CL E G H	2770	4384	OMIM:619854
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID		69
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	GPR101 CL E G H	83550	14963	ORPHA:963	Acromegaly		5
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	GRHL3 CL E G H	57822	25839	ORPHA:888	Van der Woude syndrome		12
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome		1
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome		1
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome		1
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	H3-3A CL E G H	3020	4764	OMIM:619720	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	HDAC4 CL E G H	9759	14063	OMIM:619797	NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES; NEDCHF		33
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	HECW2 CL E G H	57520	29853	OMIM:617268	Neurodevelopmental disorder with hypotonia, seizures, and absent language		11
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	HGSNAT CL E G H	138050	26527	OMIM:252930	Mucopolysaccharidosis type IIIC		86
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome		113
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	HRAS CL E G H	3265	5173	ORPHA:3071	Costello syndrome		113
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	HRAS CL E G H	3265	5173	OMIM:137550	Melanocytic nevus syndrome, congenital		113
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome		345
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	HUWE1 CL E G H	10075	30892	OMIM:309590	Mental retardation, x-linked syndromic, Turner type		98
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	IDS CL E G H	3423	5389	OMIM:309900	Mucopolysaccharidosis, type II		86
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	IDUA CL E G H	3425	5391	ORPHA:93473	Hurler syndrome		115
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	IDUA CL E G H	3425	5391	ORPHA:93474	Scheie syndrome		115
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	IFT122 CL E G H	55764	13556	OMIM:218330	Cranioectodermal dysplasia		93
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	IFT122 CL E G H	55764	13556	ORPHA:1515	Cranioectodermal dysplasia		93
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	IFT43 CL E G H	112752	29669	ORPHA:1515	Cranioectodermal dysplasia		11
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	IFT43 CL E G H	112752	29669	OMIM:614099	Cranioectodermal dysplasia 3		11
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	IFT52 CL E G H	51098	15901	ORPHA:1515	Cranioectodermal dysplasia		4
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	IGF1R CL E G H	3480	5465	ORPHA:73273	Growth delay due to insulin-like growth factor I resistance		268
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	INSR CL E G H	3643	6091	OMIM:246200	Donohue syndrome		229
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	IRF6 CL E G H	3664	6121	OMIM:119500	Popliteal pterygium syndrome		99
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	IRF6 CL E G H	3664	6121	ORPHA:888	Van der Woude syndrome		99
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	IRF6 CL E G H	3664	6121	OMIM:119300	van der Woude syndrome 1		99
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	IRX5 CL E G H	10265	14361	OMIM:611174	Hamamy syndrome		4
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome		283
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	KANSL1 CL E G H	284058	24565	OMIM:610443	Koolen-De Vries syndrome		283
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation		283
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	KAT5 CL E G H	10524	5275	OMIM:619103	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB		1
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	KCNH1 CL E G H	3756	6250	ORPHA:420561	Temple-Baraitser syndrome		13
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	KCNMA1 CL E G H	3778	6284	OMIM:618729	LIANG-WANG SYNDROME; LIWAS		114
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	KCNN3 CL E G H	3782	6292	OMIM:618658	ZIMMERMANN-LABAND SYNDROME 3; ZLS3		7
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	KDM6A CL E G H	7403	12637	OMIM:300867	Kabuki syndrome 2		53
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	KIF11 CL E G H	3832	6388	OMIM:152950	Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation		46
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	KIF15 CL E G H	56992	17273	ORPHA:261323	21q22.11q22.12 microdeletion syndrome
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	KIFBP CL E G H	26128	23419	OMIM:609460	Goldberg-Shprintzen syndrome
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	KMT2C CL E G H	58508	13726	OMIM:617768	Kleefstra syndrome 2		99
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	KMT2C CL E G H	58508	13726	ORPHA:261652	Kleefstra syndrome due to a point mutation		99
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		1
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	KNSTRN CL E G H	90417	30767	OMIM:613328	Roifman-Chitayat syndrome		1
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	KRAS CL E G H	3845	6407	ORPHA:648	Noonan syndrome		196
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	LIPN CL E G H	643418	23452	ORPHA:313	Lamellar ichthyosis		1
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	LTBP1 CL E G H	4052	6714	OMIM:619451	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE; ARCL2E
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	LTBP3 CL E G H	4054	6716	ORPHA:969	Acromicric dysplasia		12
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	LZTR1 CL E G H	8216	6742	ORPHA:648	Noonan syndrome		43
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	MAFB CL E G H	9935	6408	ORPHA:233	Duane retraction syndrome		63
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	MBD5 CL E G H	55777	20444	ORPHA:228402	2q23.1 microdeletion syndrome		252
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1	.	252
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	MCOLN1 CL E G H	57192	13356	ORPHA:578	Mucolipidosis type IV		78
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	MDH1 CL E G H	4190	6970	OMIM:618959	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 88; DEE88
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	MECP2 CL E G H	4204	6990	ORPHA:1762	Proximal Xq28 duplication syndrome		950
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	MED12 CL E G H	9968	11957	OMIM:305450	Opitz-Kaveggia syndrome		228
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	MED12L CL E G H	116931	16050	OMIM:618872	NIZON-ISIDOR SYNDROME; NIZIDS
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	MED13L CL E G H	23389	22962	OMIM:616789	Mental retardation and distinctive facial features with or without cardiac defects		74
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome		43
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	MED25 CL E G H	81857	28845	OMIM:616449	Basel-Vanagaite-Smirin-Yosef syndrome		43
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome		1
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	MGAT2 CL E G H	4247	7045	OMIM:212066	Congenital disorder of glycosylation, type IIa		39
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome		1
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome		1
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	MRAS CL E G H	22808	7227	ORPHA:648	Noonan syndrome
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	MSX1 CL E G H	4487	7391	ORPHA:2228	Hypodontia-dysplasia of nails syndrome		12
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	MYCN CL E G H	4613	7559	OMIM:164280	Feingold syndrome 1		35
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	MYO18B CL E G H	84700	18150	OMIM:616549	Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism		5
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	NAGA CL E G H	4668	7631	OMIM:609242	Kanzaki disease		47
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	NANS CL E G H	54187	19237	OMIM:610442	Spondyloepimetaphyseal dysplasia, Genevieve type		8
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome		13
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	NEU1 CL E G H	4758	7758	ORPHA:812	Sialidosis type 1		43
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	NEXMIF CL E G H	340533	29433	ORPHA:1942	Myoclonic-astatic epilepsy		52
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	NFIX CL E G H	4784	7788	OMIM:614753	Sotos syndrome 2		40
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	NIPAL4 CL E G H	348938	28018	ORPHA:313	Lamellar ichthyosis		60
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	NRAS CL E G H	4893	7989	OMIM:137550	Melanocytic nevus syndrome, congenital		102
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	NRAS CL E G H	4893	7989	ORPHA:648	Noonan syndrome		102
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	OBSL1 CL E G H	23363	29092	ORPHA:2616	3M syndrome		143
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe		88
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	PAX6 CL E G H	5080	8620	ORPHA:893	WAGR syndrome		194
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	PCDHGC4 CL E G H	56098	8717	OMIM:619880
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	PHGDH CL E G H	26227	8923	OMIM:256520	Neu-Laxova syndrome		37
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	PIGL CL E G H	9487	8966	OMIM:280000	Zunich neuroectodermal syndrome		36
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome		37
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		9
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	PIK3CD CL E G H	5293	8977	OMIM:613328	Roifman-Chitayat syndrome		9
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	PITX2 CL E G H	5308	9005	ORPHA:782	Axenfeld-Rieger syndrome		51
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	PLXND1 CL E G H	23129	9107	ORPHA:570	Moebius syndrome
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	POMGNT1 CL E G H	55624	19139	OMIM:253280	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3		180
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	POU4F1 CL E G H	5457	9218	ORPHA:314647	Non-progressive cerebellar ataxia with intellectual disability
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	PPP1CB CL E G H	5500	9282	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair		9
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms		20
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	PTH1R CL E G H	5745	9608	OMIM:600002	Eiken syndrome		58
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	PTPN11 CL E G H	5781	9644	ORPHA:648	Noonan syndrome		291
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	PUS7 CL E G H	54517	26033	OMIM:618342	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	QRICH1 CL E G H	54870	24713	OMIM:617982	VERVERI-BRADY SYNDROME; VERBRAS
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	RAB3GAP1 CL E G H	22930	17063	ORPHA:1387	Cataract-intellectual disability-hypogonadism syndrome		90
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	RAB3GAP2 CL E G H	25782	17168	ORPHA:1387	Cataract-intellectual disability-hypogonadism syndrome		135
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	RAF1 CL E G H	5894	9829	OMIM:611554	LEOPARD SYNDROME 2; LPRD2		212
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	RAF1 CL E G H	5894	9829	ORPHA:648	Noonan syndrome		212
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	RASA2 CL E G H	5922	9872	ORPHA:648	Noonan syndrome		3
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	RBMX CL E G H	27316	9910	OMIM:300238	MENTAL RETARDATION, X-LINKED, SYNDROMIC 11; MRXS11		2
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	RET CL E G H	5979	9967	OMIM:162300	Multiple endocrine neoplasia, type IIB		572
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	REV3L CL E G H	5980	9968	ORPHA:570	Moebius syndrome		3
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	RIT1 CL E G H	6016	10023	ORPHA:648	Noonan syndrome		39
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	RNF135 CL E G H	84282	21158	ORPHA:137634	Overgrowth-macrocephaly-facial dysmorphism syndrome		11
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	RPL10 CL E G H	6134	10298	ORPHA:459070	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome		10
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	RPS23 CL E G H	6228	10410	OMIM:617412	BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD		2
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	RPS6KA3 CL E G H	6197	10432	ORPHA:192	Coffin-Lowry syndrome		65
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	RPS6KA3 CL E G H	6197	10432	OMIM:303600	Coffin-Lowry syndrome		65
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	RPS6KA3 CL E G H	6197	10432	OMIM:300844	MENTAL RETARDATION, X-LINKED 19; MRX19		65
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	RPS6KA3 CL E G H	6197	10432	ORPHA:276630	Symptomatic form of Coffin-Lowry syndrome in female carriers		65
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	RRAS CL E G H	6237	10447	ORPHA:648	Noonan syndrome
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	RRAS2 CL E G H	22800	17271	ORPHA:648	Noonan syndrome		1
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	SALL4 CL E G H	57167	15924	ORPHA:233	Duane retraction syndrome		86
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome		11
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	SCN1A CL E G H	6323	10585	ORPHA:1942	Myoclonic-astatic epilepsy		1053
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	SDR9C7 CL E G H	121214	29958	ORPHA:313	Lamellar ichthyosis		2
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	SETD1B CL E G H	23067	29187	OMIM:619000	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEIZURES AND LANGUAGE DELAY; IDDSELD
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	SHOC2 CL E G H	8036	15454	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair		74
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	SIN3A CL E G H	25942	19353	ORPHA:94065	15q24 microdeletion syndrome		9
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome		9
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	SLC25A24 CL E G H	29957	20662	ORPHA:2963	Progeroid syndrome, Petty type
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	SLC2A1 CL E G H	6513	11005	ORPHA:1942	Myoclonic-astatic epilepsy		255
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	SLC6A1 CL E G H	6529	11042	ORPHA:1942	Myoclonic-astatic epilepsy		29
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome		146
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	SMARCA2 CL E G H	6595	11098	ORPHA:3051	Nicolaides-Baraitser syndrome		146
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome		617
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome		87
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome		1
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	SMARCC2 CL E G H	6601	11105	OMIM:618362	Coffin-Siris syndrome 8		1
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome		47
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	SMARCE1 CL E G H	6605	11109	OMIM:616938	Coffin-Siris syndrome 5		47
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	SMG9 CL E G H	56006	25763	OMIM:616920	Heart and brain malformation syndrome		2
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	SMS CL E G H	6611	11123	OMIM:309583	Mental retardation, X-linked, syndromic, Snyder-Robinson type		19
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	SMS CL E G H	6611	11123	ORPHA:3063	X-linked intellectual disability, Snyder type		19
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation		37
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	SOS1 CL E G H	6654	11187	ORPHA:648	Noonan syndrome		315
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	SOS2 CL E G H	6655	11188	ORPHA:648	Noonan syndrome		30
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome		14
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	SOX11 CL E G H	6664	11191	OMIM:615866	Mental retardation, autosomal dominant 27		14
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	SPECC1L CL E G H	23384	29022	ORPHA:1519	SPECC1L-related hypertelorism syndrome		6
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	SPRED2 CL E G H	200734	17722	ORPHA:648	Noonan syndrome
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	SRCAP CL E G H	10847	16974	OMIM:619595	DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES; DEHMBA		138
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	SRD5A3 CL E G H	79644	25812	OMIM:612713	Kahrizi syndrome		80
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	STRADA CL E G H	92335	30172	OMIM:611087	Polyhydramnios, megalencephaly, and symptomatic epilepsy		6
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	SULT2B1 CL E G H	6820	11459	ORPHA:313	Lamellar ichthyosis		4
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	SYNGAP1 CL E G H	8831	11497	ORPHA:1942	Myoclonic-astatic epilepsy		108
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	TASP1 CL E G H	55617	15859	OMIM:618950	SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome		271
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	TBC1D24 CL E G H	57465	29203	OMIM:220500	Doors syndrome		271
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	TBL1XR1 CL E G H	79718	29529	OMIM:602342	Pierpont syndrome		22
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	TBL1XR1 CL E G H	79718	29529	ORPHA:487825	Pierpont syndrome		22
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	TFAP2A CL E G H	7020	11742	ORPHA:1297	Branchio-oculo-facial syndrome		12
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome		12
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	TFAP2B CL E G H	7021	11743	ORPHA:46627	Char syndrome		104
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	TFE3 CL E G H	7030	11752	OMIM:301066	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	TGM1 CL E G H	7051	11777	OMIM:242300	Ichthyosis, congenital, autosomal recessive 1		98
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	TGM1 CL E G H	7051	11777	ORPHA:313	Lamellar ichthyosis		98
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	THOC6 CL E G H	79228	28369	ORPHA:363444	THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome		1
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	TMEM147 CL E G H	10430	30414	OMIM:620075
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	TMEM53 CL E G H	79639	26186	OMIM:619727	CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE; CTDI
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	TNPO2 CL E G H	30000	19998	OMIM:619556	INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND DYSMORPHIC FACIES; IDDHISD
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	UGDH CL E G H	7358	12525	OMIM:618792	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84; DEE84
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	WDR19 CL E G H	57728	18340	ORPHA:1515	Cranioectodermal dysplasia		95
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	WDR35 CL E G H	57539	29250	ORPHA:1515	Cranioectodermal dysplasia		136
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	WDR35 CL E G H	57539	29250	OMIM:613610	Cranioectodermal dysplasia 2		136
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	WT1 CL E G H	7490	12796	ORPHA:893	WAGR syndrome		177
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	YY1 CL E G H	7528	12856	OMIM:617557	Gabriele-De vries syndrome		7
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome		7
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome		17
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation		362
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22		362
HP:0000178	HP:0000178	Abnormal lower lip morphology	0	ZSWIM6 CL E G H	57688	29316	OMIM:617865	Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features		5
HP:0000178	HP:0010281	Cleft lower lip	1	CL E G H
HP:0000178	HP:0000232	Everted lower lip vermilion	1	ABCA12 CL E G H	26154	14637	OMIM:242500	Ichthyosis, congenital, autosomal recessive 4B	.	130
HP:0000178	HP:0000232	Everted lower lip vermilion	1	ABCA12 CL E G H	26154	14637	ORPHA:313	Lamellar ichthyosis	HP:0040282 - Frequent	130
HP:0000178	HP:0000179	Thick lower lip vermilion	1	ABCC9 CL E G H	10060	60	OMIM:239850	Hypertrichotic osteochondrodysplasia	.	254
HP:0000178	HP:0000232	Everted lower lip vermilion	1	ABHD5 CL E G H	51099	21396	OMIM:275630	Chanarin-Dorfman syndrome	.	90
HP:0000178	HP:0000179	Thick lower lip vermilion	1	ACER3 CL E G H	55331	16066	OMIM:617762	Leukodystrophy, progressive, early childhood-onset	.
HP:0000178	HP:0000232	Everted lower lip vermilion	1	ADAMTS2 CL E G H	9509	218	OMIM:225410	Ehlers-Danlos syndrome, type VII, autosomal recessive	.	165
HP:0000178	HP:0000179	Thick lower lip vermilion	1	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome	HP:0040283 - Occasional	47
HP:0000178	HP:0000179	Thick lower lip vermilion	1	ADNP CL E G H	23394	15766	OMIM:615873	Helsmoortel-van der Aa syndrome		47
HP:0000178	HP:0000232	Everted lower lip vermilion	1	ADNP CL E G H	23394	15766	OMIM:615873	Helsmoortel-van der Aa syndrome		47
HP:0000178	HP:0000179	Thick lower lip vermilion	1	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS		1
HP:0000178	HP:0000179	Thick lower lip vermilion	1	AGA CL E G H	175	318	OMIM:208400	ASPARTYLGLUCOSAMINURIA	.	76
HP:0000178	HP:0000179	Thick lower lip vermilion	1	AIP CL E G H	9049	358	ORPHA:963	Acromegaly	HP:0040281 - Very frequent	95
HP:0000178	HP:0000232	Everted lower lip vermilion	1	ALOX12B CL E G H	242	430	OMIM:242100	Ichthyosis, congenital, autosomal recessive 2	HP:0040283 - Occasional	75
HP:0000178	HP:0000232	Everted lower lip vermilion	1	ALOX12B CL E G H	242	430	ORPHA:313	Lamellar ichthyosis	HP:0040282 - Frequent	75
HP:0000178	HP:0000232	Everted lower lip vermilion	1	ALOXE3 CL E G H	59344	13743	OMIM:242100	Ichthyosis, congenital, autosomal recessive 2	HP:0040283 - Occasional	63
HP:0000178	HP:0000232	Everted lower lip vermilion	1	ALOXE3 CL E G H	59344	13743	ORPHA:313	Lamellar ichthyosis	HP:0040282 - Frequent	63
HP:0000178	HP:0000179	Thick lower lip vermilion	1	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis	.	34
HP:0000178	HP:0000179	Thick lower lip vermilion	1	ANTXR1 CL E G H	84168	21014	OMIM:230740	Gapo syndrome	.	8
HP:0000178	HP:0000232	Everted lower lip vermilion	1	ANTXR1 CL E G H	84168	21014	ORPHA:2067	GAPO syndrome	HP:0040281 - Very frequent	8
HP:0000178	HP:0000179	Thick lower lip vermilion	1	AP2M1 CL E G H	1173	564	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040284 - Very rare
HP:0000178	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:0000178	HP:0000179	Thick lower lip vermilion	1	ARID1A CL E G H	8289	11110	OMIM:614607	Coffin-Siris syndrome 2		88
HP:0000178	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:0000178	HP:0000179	Thick lower lip vermilion	1	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1	.	219
HP:0000178	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:0000178	HP:0000232	Everted lower lip vermilion	1	ASPRV1 CL E G H	151516	26321	ORPHA:313	Lamellar ichthyosis	HP:0040282 - Frequent	1
HP:0000178	HP:0000232	Everted lower lip vermilion	1	ASXL3 CL E G H	80816	29357	ORPHA:352577	Bainbridge-Ropers syndrome	HP:0040283 - Occasional	49
HP:0000178	HP:0000232	Everted lower lip vermilion	1	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS		49
HP:0000178	HP:0000179	Thick lower lip vermilion	1	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome	HP:0040282 - Frequent	5
HP:0000178	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:0000178	HP:0000232	Everted 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:0000178	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:0000178	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:0000178	HP:0000232	Everted lower lip vermilion	1	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000178	HP:0000179	Thick lower lip vermilion	1	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000178	HP:0000232	Everted lower lip vermilion	1	BCAS3 CL E G H	54828	14347	OMIM:619641	HENGEL-MAROOFIAN-SCHOLS SYNDROME; HEMARS		2
HP:0000178	HP:0000232	Everted lower lip vermilion	1	BCL11A CL E G H	53335	13221	OMIM:617101	Intellectual developmental disorder with persistence of fetal hemoglobin	.	11
HP:0000178	HP:0000232	Everted lower lip vermilion	1	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000178	HP:0000179	Thick lower lip vermilion	1	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000178	HP:0000232	Everted lower lip vermilion	1	BDNF CL E G H	627	1033	ORPHA:893	WAGR syndrome	HP:0040282 - Frequent	5
HP:0000178	HP:0000232	Everted lower lip vermilion	1	BMP2 CL E G H	650	1069	OMIM:617877	Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies	.	13
HP:0000178	HP:0000232	Everted lower lip vermilion	1	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000178	HP:0000179	Thick lower lip vermilion	1	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000178	HP:0000179	Thick lower lip vermilion	1	C12ORF57 CL E G H	113246	29521	ORPHA:1777	Temtamy syndrome	HP:0040283 - Occasional	13
HP:0000178	HP:0000179	Thick lower lip vermilion	1	CA2 CL E G H	760	1373	ORPHA:2785	Osteopetrosis with renal tubular acidosis		29
HP:0000178	HP:0000179	Thick lower lip vermilion	1	CAMTA1 CL E G H	23261	18806	OMIM:614756	Cerebellar ataxia, nonprogressive, with mental retardation	.	34
HP:0000178	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:0000178	HP:0000179	Thick lower lip vermilion	1	CBL CL E G H	867	1541	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	317
HP:0000178	HP:0000232	Everted lower lip vermilion	1	CCDC8 CL E G H	83987	25367	ORPHA:2616	3M syndrome	HP:0040281 - Very frequent	5
HP:0000178	HP:0000179	Thick lower lip vermilion	1	CDH11 CL E G H	1009	1750	OMIM:211380	Elsahy-Waters syndrome	.	2
HP:0000178	HP:0000232	Everted lower lip vermilion	1	CDH11 CL E G H	1009	1750	OMIM:619736	TEEBI HYPERTELORISM SYNDROME 2; TBHS2		2
HP:0000178	HP:0000232	Everted lower lip vermilion	1	CDKL5 CL E G H	6792	11411	ORPHA:505652	CDKL5-deficiency disorder	HP:0040282 - Frequent	405
HP:0000178	HP:0000179	Thick lower lip vermilion	1	CDKL5 CL E G H	6792	11411	OMIM:300672	Developmental and epileptic encephalopathy 2	.	405
HP:0000178	HP:0000179	Thick lower lip vermilion	1	CDT1 CL E G H	81620	24576	OMIM:613804	Meier-Gorlin syndrome 4	.	50
HP:0000178	HP:0000232	Everted lower lip vermilion	1	CHAMP1 CL E G H	283489	20311	OMIM:616579	Mental retardation, autosomal dominant 40	.	16
HP:0000178	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:0000178	HP:0000232	Everted lower lip vermilion	1	CHN1 CL E G H	1123	1943	ORPHA:233	Duane retraction syndrome	HP:0040283 - Occasional	35
HP:0000178	HP:0000232	Everted lower lip vermilion	1	CLIC2 CL E G H	1193	2063	ORPHA:324410	X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome	HP:0040283 - Occasional	4
HP:0000178	HP:0000179	Thick lower lip vermilion	1	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000178	HP:0000232	Everted lower lip vermilion	1	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000178	HP:0000179	Thick lower lip vermilion	1	COL11A1 CL E G H	1301	2186	OMIM:154780	Marshall syndrome	.	215
HP:0000178	HP:0000179	Thick lower lip vermilion	1	COL11A1 CL E G H	1301	2186	ORPHA:560	Marshall syndrome	HP:0040281 - Very frequent	215
HP:0000178	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:0000178	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:0000178	HP:0000179	Thick lower lip vermilion	1	CUL7 CL E G H	9820	21024	OMIM:273750	3-M syndrome 1	.	127
HP:0000178	HP:0000232	Everted lower lip vermilion	1	CUL7 CL E G H	9820	21024	ORPHA:2616	3M syndrome	HP:0040281 - Very frequent	127
HP:0000178	HP:0000179	Thick lower lip vermilion	1	CYP24A1 CL E G H	1591	2602	OMIM:143880	Hypercalcemia, infantile, 1	.	73
HP:0000178	HP:0000232	Everted lower lip vermilion	1	CYP4F22 CL E G H	126410	26820	ORPHA:313	Lamellar ichthyosis	HP:0040282 - Frequent	54
HP:0000178	HP:0000179	Thick lower lip vermilion	1	DEAF1 CL E G H	10522	14677	OMIM:615828	Mental retardation, autosomal dominant 24	.	33
HP:0000178	HP:0000232	Everted lower lip vermilion	1	DHX30 CL E G H	22907	16716	OMIM:617804	Neurodevelopmental disorder with severe motor impairment and absent language	.	4
HP:0000178	HP:0000232	Everted lower lip vermilion	1	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000178	HP:0000179	Thick lower lip vermilion	1	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000178	HP:0000232	Everted lower lip vermilion	1	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:0000178	HP:0000179	Thick lower lip vermilion	1	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome	HP:0040281 - Very frequent
HP:0000178	HP:0000179	Thick lower lip vermilion	1	DPF2 CL E G H	5977	9964	OMIM:618027	Coffin-Siris syndrome 7
HP:0000178	HP:0000179	Thick lower lip vermilion	1	DYRK1A CL E G H	1859	3091	OMIM:614104	Mental retardation, autosomal dominant 7		134
HP:0000178	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:0000178	HP:0000179	Thick lower lip vermilion	1	ECM1 CL E G H	1893	3153	ORPHA:530	Lipoid proteinosis	HP:0040281 - Very frequent	14
HP:0000178	HP:0000232	Everted lower lip vermilion	1	EDA CL E G H	1896	3157	OMIM:305100	Ectodermal dysplasia 1, hypohidrotic, X-linked	.	115
HP:0000178	HP:0000232	Everted lower lip vermilion	1	EDA CL E G H	1896	3157	ORPHA:181	X-linked hypohidrotic ectodermal dysplasia	HP:0040281 - Very frequent	115
HP:0000178	HP:0000232	Everted lower lip vermilion	1	EDA2R CL E G H	60401	17756	ORPHA:181	X-linked hypohidrotic ectodermal dysplasia	HP:0040281 - Very frequent	11
HP:0000178	HP:0000232	Everted lower lip vermilion	1	EDAR CL E G H	10913	2895	OMIM:224900	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive	.	86
HP:0000178	HP:0000232	Everted lower lip vermilion	1	EDARADD CL E G H	128178	14341	OMIM:224900	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive	.	56
HP:0000178	HP:0000232	Everted lower lip vermilion	1	EDARADD CL E G H	128178	14341	OMIM:614940	Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant	.	56
HP:0000178	HP:0000232	Everted lower lip vermilion	1	EDARADD CL E G H	128178	14341	OMIM:614941	Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive	.	56
HP:0000178	HP:0000232	Everted lower lip vermilion	1	EDNRA CL E G H	1909	3179	OMIM:616367	Mandibulofacial dysostosis with alopecia	.	3
HP:0000178	HP:0000232	Everted lower lip vermilion	1	EEF1A2 CL E G H	1917	3192	OMIM:616393	Mental retardation, autosomal dominant 38	.	60
HP:0000178	HP:0000232	Everted lower lip vermilion	1	EHMT1 CL E G H	79813	24650	OMIM:610253	Kleefstra syndrome		223
HP:0000178	HP:0000232	Everted lower lip vermilion	1	EHMT1 CL E G H	79813	24650	ORPHA:96147	Kleefstra syndrome due to 9q34 microdeletion	HP:0040281 - Very frequent	223
HP:0000178	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:0000178	HP:0000232	Everted lower lip vermilion	1	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000178	HP:0000179	Thick lower lip vermilion	1	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000178	HP:0000179	Thick lower lip vermilion	1	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	172
HP:0000178	HP:0000232	Everted lower lip vermilion	1	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	172
HP:0000178	HP:0000179	Thick lower lip vermilion	1	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome		172
HP:0000178	HP:0000232	Everted lower lip vermilion	1	ERCC1 CL E G H	2067	3433	ORPHA:1466	COFS syndrome	HP:0040281 - Very frequent	20
HP:0000178	HP:0000232	Everted lower lip vermilion	1	ERCC2 CL E G H	2068	3434	ORPHA:1466	COFS syndrome	HP:0040281 - Very frequent	106
HP:0000178	HP:0000232	Everted lower lip vermilion	1	ERCC5 CL E G H	2073	3437	ORPHA:1466	COFS syndrome	HP:0040281 - Very frequent	83
HP:0000178	HP:0000232	Everted lower lip vermilion	1	ERCC6 CL E G H	2074	3438	ORPHA:1466	COFS syndrome	HP:0040281 - Very frequent	199
HP:0000178	HP:0000179	Thick lower lip vermilion	1	FBN1 CL E G H	2200	3603	OMIM:102370	Acromicric dysplasia	.	1361
HP:0000178	HP:0000179	Thick lower lip vermilion	1	FBN1 CL E G H	2200	3603	ORPHA:969	Acromicric dysplasia	HP:0040282 - Frequent	1361
HP:0000178	HP:0000232	Everted lower lip vermilion	1	FBXL4 CL E G H	26235	13601	OMIM:615471	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)	.	384
HP:0000178	HP:0000232	Everted lower lip vermilion	1	FBXO11 CL E G H	80204	13590	OMIM:618089	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	.	7
HP:0000178	HP:0000232	Everted lower lip vermilion	1	FGD1 CL E G H	2245	3663	ORPHA:915	Aarskog-Scott syndrome	HP:0040281 - Very frequent	62
HP:0000178	HP:0002055	Curved linear dimple below the lower lip	1	FGD1 CL E G H	2245	3663	OMIM:305400	Aarskog-Scott syndrome	.	62
HP:0000178	HP:0000232	Everted lower lip vermilion	1	FHL1 CL E G H	2273	3702	OMIM:300280	Uruguay faciocardiomusculoskeletal syndrome	.	68
HP:0000178	HP:0000232	Everted lower lip vermilion	1	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000178	HP:0000179	Thick lower lip vermilion	1	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000178	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:0000178	HP:0000232	Everted lower lip vermilion	1	FOXC1 CL E G H	2296	3800	ORPHA:782	Axenfeld-Rieger syndrome	HP:0040282 - Frequent	63
HP:0000178	HP:0000232	Everted lower lip vermilion	1	FOXG1 CL E G H	2290	3811	ORPHA:261144	FOXG1 syndrome due to 14q12 microdeletion	HP:0040281 - Very frequent	177
HP:0000178	HP:0000232	Everted lower lip vermilion	1	FRMD4A CL E G H	55691	25491	OMIM:616819	Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia		1
HP:0000178	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:0000178	HP:0000179	Thick lower lip vermilion	1	FTSJ1 CL E G H	24140	13254	OMIM:309549	Mental retardation, X-linked 9	.	13
HP:0000178	HP:0000179	Thick lower lip vermilion	1	FUCA1 CL E G H	2517	4006	OMIM:230000	FUCOSIDOSIS	.	43
HP:0000178	HP:0000232	Everted lower lip vermilion	1	GBA1 CL E G H	2629	4177	OMIM:608013	Gaucher disease, perinatal lethal	.
HP:0000178	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:0000178	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:0000178	HP:0000179	Thick lower lip vermilion	1	GLA CL E G H	2717	4296	ORPHA:324	Fabry disease	HP:0040282 - Frequent	291
HP:0000178	HP:0000179	Thick lower lip vermilion	1	GNAI1 CL E G H	2770	4384	OMIM:619854
HP:0000178	HP:0000179	Thick lower lip vermilion	1	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID	.	69
HP:0000178	HP:0000179	Thick lower lip vermilion	1	GPR101 CL E G H	83550	14963	ORPHA:963	Acromegaly	HP:0040281 - Very frequent	5
HP:0000178	HP:0000196	Lower lip pit	1	GRHL3 CL E G H	57822	25839	ORPHA:888	Van der Woude syndrome	HP:0040282 - Frequent	12
HP:0000178	HP:0000232	Everted lower lip vermilion	1	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0000178	HP:0000179	Thick lower lip vermilion	1	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0000178	HP:0000232	Everted lower lip vermilion	1	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0000178	HP:0000179	Thick lower lip vermilion	1	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0000178	HP:0000179	Thick lower lip vermilion	1	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0000178	HP:0000232	Everted lower lip vermilion	1	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0000178	HP:0000232	Everted lower lip vermilion	1	H3-3A CL E G H	3020	4764	OMIM:619720	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0000178	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:0000178	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:0000178	HP:0000232	Everted lower lip vermilion	1	HGSNAT CL E G H	138050	26527	OMIM:252930	Mucopolysaccharidosis type IIIC	.	86
HP:0000178	HP:0000179	Thick lower lip vermilion	1	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome	.	113
HP:0000178	HP:0000179	Thick lower lip vermilion	1	HRAS CL E G H	3265	5173	ORPHA:3071	Costello syndrome	HP:0040282 - Frequent	113
HP:0000178	HP:0000232	Everted lower lip vermilion	1	HRAS CL E G H	3265	5173	OMIM:137550	Melanocytic nevus syndrome, congenital	.	113
HP:0000178	HP:0010282	Thin lower lip vermilion	1	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0000178	HP:0000232	Everted lower lip vermilion	1	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome	HP:0040281 - Very frequent	345
HP:0000178	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:0000178	HP:0000179	Thick lower lip vermilion	1	IDS CL E G H	3423	5389	OMIM:309900	Mucopolysaccharidosis, type II	.	86
HP:0000178	HP:0000232	Everted lower lip vermilion	1	IDUA CL E G H	3425	5391	ORPHA:93473	Hurler syndrome	HP:0040282 - Frequent	115
HP:0000178	HP:0000232	Everted lower lip vermilion	1	IDUA CL E G H	3425	5391	ORPHA:93474	Scheie syndrome	HP:0040282 - Frequent	115
HP:0000178	HP:0000232	Everted lower lip vermilion	1	IFT122 CL E G H	55764	13556	OMIM:218330	Cranioectodermal dysplasia	.	93
HP:0000178	HP:0000232	Everted lower lip vermilion	1	IFT122 CL E G H	55764	13556	ORPHA:1515	Cranioectodermal dysplasia	HP:0040282 - Frequent	93
HP:0000178	HP:0000232	Everted lower lip vermilion	1	IFT43 CL E G H	112752	29669	ORPHA:1515	Cranioectodermal dysplasia	HP:0040282 - Frequent	11
HP:0000178	HP:0000232	Everted lower lip vermilion	1	IFT43 CL E G H	112752	29669	OMIM:614099	Cranioectodermal dysplasia 3	HP:0040283 - Occasional	11
HP:0000178	HP:0000232	Everted lower lip vermilion	1	IFT52 CL E G H	51098	15901	ORPHA:1515	Cranioectodermal dysplasia	HP:0040282 - Frequent	4
HP:0000178	HP:0000232	Everted lower lip vermilion	1	IGF1R CL E G H	3480	5465	ORPHA:73273	Growth delay due to insulin-like growth factor I resistance	HP:0040282 - Frequent	268
HP:0000178	HP:0000179	Thick lower lip vermilion	1	INSR CL E G H	3643	6091	OMIM:246200	Donohue syndrome	.	229
HP:0000178	HP:0000196	Lower lip pit	1	IRF6 CL E G H	3664	6121	OMIM:119500	Popliteal pterygium syndrome	.	99
HP:0000178	HP:0000196	Lower lip pit	1	IRF6 CL E G H	3664	6121	ORPHA:888	Van der Woude syndrome	HP:0040282 - Frequent	99
HP:0000178	HP:0000196	Lower lip pit	1	IRF6 CL E G H	3664	6121	OMIM:119300	van der Woude syndrome 1	.	99
HP:0000178	HP:0000232	Everted lower lip vermilion	1	IRX5 CL E G H	10265	14361	OMIM:611174	Hamamy syndrome		4
HP:0000178	HP:0000232	Everted lower lip vermilion	1	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome	HP:0040282 - Frequent	283
HP:0000178	HP:0000232	Everted lower lip vermilion	1	KANSL1 CL E G H	284058	24565	OMIM:610443	Koolen-De Vries syndrome		283
HP:0000178	HP:0000232	Everted lower lip vermilion	1	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation	HP:0040282 - Frequent	283
HP:0000178	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:0000178	HP:0000232	Everted lower lip vermilion	1	KCNH1 CL E G H	3756	6250	ORPHA:420561	Temple-Baraitser syndrome	HP:0040283 - Occasional	13
HP:0000178	HP:0000232	Everted lower lip vermilion	1	KCNMA1 CL E G H	3778	6284	OMIM:618729	LIANG-WANG SYNDROME; LIWAS		114
HP:0000178	HP:0000179	Thick lower lip vermilion	1	KCNN3 CL E G H	3782	6292	OMIM:618658	ZIMMERMANN-LABAND SYNDROME 3; ZLS3		7
HP:0000178	HP:0000196	Lower lip pit	1	KDM6A CL E G H	7403	12637	OMIM:300867	Kabuki syndrome 2		53
HP:0000178	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:0000178	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:0000178	HP:0000232	Everted lower lip vermilion	1	KIFBP CL E G H	26128	23419	OMIM:609460	Goldberg-Shprintzen syndrome	.
HP:0000178	HP:0000232	Everted lower lip vermilion	1	KMT2C CL E G H	58508	13726	OMIM:617768	Kleefstra syndrome 2		99
HP:0000178	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:0000178	HP:0010282	Thin lower lip vermilion	1	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	1
HP:0000178	HP:0010282	Thin lower lip vermilion	1	KNSTRN CL E G H	90417	30767	OMIM:613328	Roifman-Chitayat syndrome	.	1
HP:0000178	HP:0000179	Thick lower lip vermilion	1	KRAS CL E G H	3845	6407	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	196
HP:0000178	HP:0000179	Thick lower lip vermilion	1	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000178	HP:0000232	Everted lower lip vermilion	1	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000178	HP:0000232	Everted lower lip vermilion	1	LIPN CL E G H	643418	23452	ORPHA:313	Lamellar ichthyosis	HP:0040282 - Frequent	1
HP:0000178	HP:0000179	Thick lower lip vermilion	1	LTBP1 CL E G H	4052	6714	OMIM:619451	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE; ARCL2E
HP:0000178	HP:0000179	Thick lower lip vermilion	1	LTBP3 CL E G H	4054	6716	ORPHA:969	Acromicric dysplasia	HP:0040282 - Frequent	12
HP:0000178	HP:0000179	Thick lower lip vermilion	1	LZTR1 CL E G H	8216	6742	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	43
HP:0000178	HP:0000232	Everted lower lip vermilion	1	MAFB CL E G H	9935	6408	ORPHA:233	Duane retraction syndrome	HP:0040283 - Occasional	63
HP:0000178	HP:0000232	Everted lower lip vermilion	1	MBD5 CL E G H	55777	20444	ORPHA:228402	2q23.1 microdeletion syndrome	HP:0040282 - Frequent	252
HP:0000178	HP:0000232	Everted lower lip vermilion	1	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1		252
HP:0000178	HP:0000232	Everted lower lip vermilion	1	MCOLN1 CL E G H	57192	13356	ORPHA:578	Mucolipidosis type IV	HP:0040283 - Occasional	78
HP:0000178	HP:0000232	Everted lower lip vermilion	1	MDH1 CL E G H	4190	6970	OMIM:618959	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 88; DEE88
HP:0000178	HP:0000232	Everted lower lip vermilion	1	MECP2 CL E G H	4204	6990	ORPHA:1762	Proximal Xq28 duplication syndrome	HP:0040281 - Very frequent	950
HP:0000178	HP:0000179	Thick lower lip vermilion	1	MED12 CL E G H	9968	11957	OMIM:305450	Opitz-Kaveggia syndrome	.	228
HP:0000178	HP:0000232	Everted lower lip vermilion	1	MED12L CL E G H	116931	16050	OMIM:618872	NIZON-ISIDOR SYNDROME; NIZIDS
HP:0000178	HP:0000232	Everted lower lip vermilion	1	MED13L CL E G H	23389	22962	OMIM:616789	Mental retardation and distinctive facial features with or without cardiac defects		74
HP:0000178	HP:0000232	Everted lower lip vermilion	1	MED25 CL E G H	81857	28845	OMIM:616449	Basel-Vanagaite-Smirin-Yosef syndrome	.	43
HP:0000178	HP:0000232	Everted lower lip vermilion	1	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome	HP:0040282 - Frequent	43
HP:0000178	HP:0000232	Everted lower lip vermilion	1	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0000178	HP:0000179	Thick lower lip vermilion	1	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0000178	HP:0000232	Everted lower lip vermilion	1	MGAT2 CL E G H	4247	7045	OMIM:212066	Congenital disorder of glycosylation, type IIa	.	39
HP:0000178	HP:0000232	Everted lower lip vermilion	1	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0000178	HP:0000179	Thick lower lip vermilion	1	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0000178	HP:0000179	Thick lower lip vermilion	1	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome		1
HP:0000178	HP:0000179	Thick lower lip vermilion	1	MRAS CL E G H	22808	7227	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent
HP:0000178	HP:0000232	Everted lower lip vermilion	1	MSX1 CL E G H	4487	7391	ORPHA:2228	Hypodontia-dysplasia of nails syndrome	HP:0040282 - Frequent	12
HP:0000178	HP:0000232	Everted lower lip vermilion	1	MYCN CL E G H	4613	7559	OMIM:164280	Feingold syndrome 1	.	35
HP:0000178	HP:0000232	Everted lower lip vermilion	1	MYO18B CL E G H	84700	18150	OMIM:616549	Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism		5
HP:0000178	HP:0000179	Thick lower lip vermilion	1	NAGA CL E G H	4668	7631	OMIM:609242	Kanzaki disease	.	47
HP:0000178	HP:0000179	Thick lower lip vermilion	1	NANS CL E G H	54187	19237	OMIM:610442	Spondyloepimetaphyseal dysplasia, Genevieve type	.	8
HP:0000178	HP:0000232	Everted lower lip vermilion	1	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	13
HP:0000178	HP:0000179	Thick lower lip vermilion	1	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	13
HP:0000178	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:0000178	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:0000178	HP:0000232	Everted lower lip vermilion	1	NFIX CL E G H	4784	7788	OMIM:614753	Sotos syndrome 2	.	40
HP:0000178	HP:0000232	Everted lower lip vermilion	1	NIPAL4 CL E G H	348938	28018	ORPHA:313	Lamellar ichthyosis	HP:0040282 - Frequent	60
HP:0000178	HP:0000232	Everted lower lip vermilion	1	NRAS CL E G H	4893	7989	OMIM:137550	Melanocytic nevus syndrome, congenital	.	102
HP:0000178	HP:0000179	Thick lower lip vermilion	1	NRAS CL E G H	4893	7989	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	102
HP:0000178	HP:0000232	Everted lower lip vermilion	1	OBSL1 CL E G H	23363	29092	ORPHA:2616	3M syndrome	HP:0040281 - Very frequent	143
HP:0000178	HP:0000232	Everted lower lip vermilion	1	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe	HP:0040283 - Occasional	88
HP:0000178	HP:0000232	Everted lower lip vermilion	1	PAX6 CL E G H	5080	8620	ORPHA:893	WAGR syndrome	HP:0040282 - Frequent	194
HP:0000178	HP:0000232	Everted lower lip vermilion	1	PCDHGC4 CL E G H	56098	8717	OMIM:619880
HP:0000178	HP:0000179	Thick lower lip vermilion	1	PHGDH CL E G H	26227	8923	OMIM:256520	Neu-Laxova syndrome	.	37
HP:0000178	HP:0000179	Thick lower lip vermilion	1	PIGL CL E G H	9487	8966	OMIM:280000	Zunich neuroectodermal syndrome	.	36
HP:0000178	HP:0010282	Thin lower lip vermilion	1	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome	HP:0040283 - Occasional	37
HP:0000178	HP:0010282	Thin lower lip vermilion	1	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	9
HP:0000178	HP:0010282	Thin lower lip vermilion	1	PIK3CD CL E G H	5293	8977	OMIM:613328	Roifman-Chitayat syndrome	.	9
HP:0000178	HP:0000232	Everted lower lip vermilion	1	PITX2 CL E G H	5308	9005	ORPHA:782	Axenfeld-Rieger syndrome	HP:0040282 - Frequent	51
HP:0000178	HP:0000232	Everted lower lip vermilion	1	PLXND1 CL E G H	23129	9107	ORPHA:570	Moebius syndrome	HP:0040282 - Frequent
HP:0000178	HP:0000232	Everted lower lip vermilion	1	POMGNT1 CL E G H	55624	19139	OMIM:253280	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3		180
HP:0000178	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:0000178	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:0000178	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:0000178	HP:0000179	Thick lower lip vermilion	1	PTH1R CL E G H	5745	9608	OMIM:600002	Eiken syndrome		58
HP:0000178	HP:0000179	Thick lower lip vermilion	1	PTPN11 CL E G H	5781	9644	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	291
HP:0000178	HP:0000232	Everted lower lip vermilion	1	PUS7 CL E G H	54517	26033	OMIM:618342	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature	.
HP:0000178	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:0000178	HP:0000232	Everted lower lip vermilion	1	QRICH1 CL E G H	54870	24713	OMIM:617982	VERVERI-BRADY SYNDROME; VERBRAS
HP:0000178	HP:0000232	Everted lower lip vermilion	1	RAB3GAP1 CL E G H	22930	17063	ORPHA:1387	Cataract-intellectual disability-hypogonadism syndrome	HP:0040281 - Very frequent	90
HP:0000178	HP:0000232	Everted lower lip vermilion	1	RAB3GAP2 CL E G H	25782	17168	ORPHA:1387	Cataract-intellectual disability-hypogonadism syndrome	HP:0040281 - Very frequent	135
HP:0000178	HP:0000179	Thick lower lip vermilion	1	RAF1 CL E G H	5894	9829	OMIM:611554	LEOPARD SYNDROME 2; LPRD2		212
HP:0000178	HP:0000179	Thick lower lip vermilion	1	RAF1 CL E G H	5894	9829	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	212
HP:0000178	HP:0000179	Thick lower lip vermilion	1	RASA2 CL E G H	5922	9872	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	3
HP:0000178	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:0000178	HP:0000179	Thick lower lip vermilion	1	RET CL E G H	5979	9967	OMIM:162300	Multiple endocrine neoplasia, type IIB	.	572
HP:0000178	HP:0000232	Everted lower lip vermilion	1	REV3L CL E G H	5980	9968	ORPHA:570	Moebius syndrome	HP:0040282 - Frequent	3
HP:0000178	HP:0000232	Everted lower lip vermilion	1	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000178	HP:0000179	Thick lower lip vermilion	1	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000178	HP:0000179	Thick lower lip vermilion	1	RIT1 CL E G H	6016	10023	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	39
HP:0000178	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:0000178	HP:0000232	Everted lower lip vermilion	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:0000178	HP:0000179	Thick lower lip vermilion	1	RPS23 CL E G H	6228	10410	OMIM:617412	BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD		2
HP:0000178	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:0000178	HP:0000232	Everted lower lip vermilion	1	RPS6KA3 CL E G H	6197	10432	OMIM:303600	Coffin-Lowry syndrome	.	65
HP:0000178	HP:0000232	Everted lower lip vermilion	1	RPS6KA3 CL E G H	6197	10432	ORPHA:192	Coffin-Lowry syndrome	HP:0040281 - Very frequent	65
HP:0000178	HP:0000179	Thick lower lip vermilion	1	RPS6KA3 CL E G H	6197	10432	OMIM:300844	MENTAL RETARDATION, X-LINKED 19; MRX19		65
HP:0000178	HP:0000232	Everted lower lip vermilion	1	RPS6KA3 CL E G H	6197	10432	OMIM:300844	MENTAL RETARDATION, X-LINKED 19; MRX19		65
HP:0000178	HP:0000232	Everted lower lip vermilion	1	RPS6KA3 CL E G H	6197	10432	ORPHA:276630	Symptomatic form of Coffin-Lowry syndrome in female carriers	HP:0040283 - Occasional	65
HP:0000178	HP:0000179	Thick lower lip vermilion	1	RRAS CL E G H	6237	10447	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent
HP:0000178	HP:0000179	Thick lower lip vermilion	1	RRAS2 CL E G H	22800	17271	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	1
HP:0000178	HP:0000232	Everted lower lip vermilion	1	SALL4 CL E G H	57167	15924	ORPHA:233	Duane retraction syndrome	HP:0040283 - Occasional	86
HP:0000178	HP:0000232	Everted lower lip vermilion	1	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome	.	11
HP:0000178	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:0000178	HP:0000232	Everted lower lip vermilion	1	SDR9C7 CL E G H	121214	29958	ORPHA:313	Lamellar ichthyosis	HP:0040282 - Frequent	2
HP:0000178	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:0000178	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:0000178	HP:0000179	Thick lower lip vermilion	1	SIN3A CL E G H	25942	19353	ORPHA:94065	15q24 microdeletion syndrome	HP:0040283 - Occasional	9
HP:0000178	HP:0000179	Thick lower lip vermilion	1	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome		9
HP:0000178	HP:0000232	Everted lower lip vermilion	1	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome	.
HP:0000178	HP:0000232	Everted lower lip vermilion	1	SLC25A24 CL E G H	29957	20662	ORPHA:2963	Progeroid syndrome, Petty type	HP:0040281 - Very frequent
HP:0000178	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:0000178	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:0000178	HP:0000179	Thick lower lip vermilion	1	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome	.	146
HP:0000178	HP:0000232	Everted lower lip vermilion	1	SMARCA2 CL E G H	6595	11098	ORPHA:3051	Nicolaides-Baraitser syndrome	HP:0040281 - Very frequent	146
HP:0000178	HP:0000232	Everted lower lip vermilion	1	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome	.	146
HP:0000178	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:0000178	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:0000178	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:0000178	HP:0000179	Thick lower lip vermilion	1	SMARCC2 CL E G H	6601	11105	OMIM:618362	Coffin-Siris syndrome 8	.	1
HP:0000178	HP:0000179	Thick lower lip vermilion	1	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome	HP:0040281 - Very frequent
HP:0000178	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:0000178	HP:0000179	Thick lower lip vermilion	1	SMARCE1 CL E G H	6605	11109	OMIM:616938	Coffin-Siris syndrome 5		47
HP:0000178	HP:0000232	Everted lower lip vermilion	1	SMG9 CL E G H	56006	25763	OMIM:616920	Heart and brain malformation syndrome		2
HP:0000178	HP:0000179	Thick lower lip vermilion	1	SMG9 CL E G H	56006	25763	OMIM:616920	Heart and brain malformation syndrome	.	2
HP:0000178	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:0000178	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:0000178	HP:0000232	Everted lower lip vermilion	1	SMS CL E G H	6611	11123	ORPHA:3063	X-linked intellectual disability, Snyder type	HP:0040284 - Very rare	19
HP:0000178	HP:0000232	Everted lower lip vermilion	1	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation	HP:0040283 - Occasional	37
HP:0000178	HP:0000179	Thick lower lip vermilion	1	SOS1 CL E G H	6654	11187	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	315
HP:0000178	HP:0000179	Thick lower lip vermilion	1	SOS2 CL E G H	6655	11188	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	30
HP:0000178	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:0000178	HP:0000232	Everted lower lip vermilion	1	SOX11 CL E G H	6664	11191	OMIM:615866	Mental retardation, autosomal dominant 27	.	14
HP:0000178	HP:0000179	Thick lower lip vermilion	1	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome	HP:0040281 - Very frequent
HP:0000178	HP:0000232	Everted lower lip vermilion	1	SPECC1L CL E G H	23384	29022	ORPHA:1519	SPECC1L-related hypertelorism syndrome	HP:0040282 - Frequent	6
HP:0000178	HP:0000179	Thick lower lip vermilion	1	SPRED2 CL E G H	200734	17722	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent
HP:0000178	HP:0000232	Everted lower lip vermilion	1	SRCAP CL E G H	10847	16974	OMIM:619595	DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES; DEHMBA		138
HP:0000178	HP:0000179	Thick lower lip vermilion	1	SRD5A3 CL E G H	79644	25812	OMIM:612713	Kahrizi syndrome	.	80
HP:0000178	HP:0000179	Thick lower lip vermilion	1	STRADA CL E G H	92335	30172	OMIM:611087	Polyhydramnios, megalencephaly, and symptomatic epilepsy		6
HP:0000178	HP:0000232	Everted lower lip vermilion	1	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000178	HP:0000179	Thick lower lip vermilion	1	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000178	HP:0000232	Everted lower lip vermilion	1	SULT2B1 CL E G H	6820	11459	ORPHA:313	Lamellar ichthyosis	HP:0040282 - Frequent	4
HP:0000178	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:0000178	HP:0000179	Thick lower lip vermilion	1	TASP1 CL E G H	55617	15859	OMIM:618950	SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0000178	HP:0000179	Thick lower lip vermilion	1	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome	HP:0040282 - Frequent	271
HP:0000178	HP:0000179	Thick lower lip vermilion	1	TBC1D24 CL E G H	57465	29203	OMIM:220500	Doors syndrome		271
HP:0000178	HP:0000232	Everted lower lip vermilion	1	TBC1D24 CL E G H	57465	29203	OMIM:220500	Doors syndrome	.	271
HP:0000178	HP:0000232	Everted lower lip vermilion	1	TBL1XR1 CL E G H	79718	29529	ORPHA:487825	Pierpont syndrome	HP:0040281 - Very frequent	22
HP:0000178	HP:0000232	Everted lower lip vermilion	1	TBL1XR1 CL E G H	79718	29529	OMIM:602342	Pierpont syndrome	.	22
HP:0000178	HP:0000179	Thick lower lip vermilion	1	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000178	HP:0000232	Everted lower lip vermilion	1	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000178	HP:0000232	Everted lower lip vermilion	1	TFAP2A CL E G H	7020	11742	ORPHA:1297	Branchio-oculo-facial syndrome	HP:0040281 - Very frequent	12
HP:0000178	HP:0000196	Lower lip pit	1	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome	.	12
HP:0000178	HP:0000232	Everted lower lip vermilion	1	TFAP2B CL E G H	7021	11743	ORPHA:46627	Char syndrome	HP:0040281 - Very frequent	104
HP:0000178	HP:0000232	Everted lower lip vermilion	1	TFE3 CL E G H	7030	11752	OMIM:301066	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0000178	HP:0000232	Everted lower lip vermilion	1	TGM1 CL E G H	7051	11777	OMIM:242300	Ichthyosis, congenital, autosomal recessive 1	.	98
HP:0000178	HP:0000232	Everted lower lip vermilion	1	TGM1 CL E G H	7051	11777	ORPHA:313	Lamellar ichthyosis	HP:0040282 - Frequent	98
HP:0000178	HP:0010282	Thin lower 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:0000178	HP:0000232	Everted lower lip vermilion	1	TMEM147 CL E G H	10430	30414	OMIM:620075
HP:0000178	HP:0000179	Thick lower lip vermilion	1	TMEM147 CL E G H	10430	30414	OMIM:620075
HP:0000178	HP:0000179	Thick lower lip vermilion	1	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000178	HP:0000232	Everted lower lip vermilion	1	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000178	HP:0000179	Thick lower lip vermilion	1	TMEM53 CL E G H	79639	26186	OMIM:619727	CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE; CTDI
HP:0000178	HP:0000232	Everted lower lip vermilion	1	TNPO2 CL E G H	30000	19998	OMIM:619556	INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND DYSMORPHIC FACIES; IDDHISD
HP:0000178	HP:0000232	Everted lower lip vermilion	1	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0000178	HP:0000179	Thick lower lip vermilion	1	UGDH CL E G H	7358	12525	OMIM:618792	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84; DEE84
HP:0000178	HP:0000232	Everted lower lip vermilion	1	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000178	HP:0000179	Thick lower lip vermilion	1	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000178	HP:0000232	Everted lower lip vermilion	1	WDR19 CL E G H	57728	18340	ORPHA:1515	Cranioectodermal dysplasia	HP:0040282 - Frequent	95
HP:0000178	HP:0000232	Everted lower lip vermilion	1	WDR35 CL E G H	57539	29250	ORPHA:1515	Cranioectodermal dysplasia	HP:0040282 - Frequent	136
HP:0000178	HP:0000232	Everted lower lip vermilion	1	WDR35 CL E G H	57539	29250	OMIM:613610	Cranioectodermal dysplasia 2	.	136
HP:0000178	HP:0000232	Everted lower lip vermilion	1	WT1 CL E G H	7490	12796	ORPHA:893	WAGR syndrome	HP:0040282 - Frequent	177
HP:0000178	HP:0000179	Thick lower lip vermilion	1	YY1 CL E G H	7528	12856	OMIM:617557	Gabriele-De vries syndrome	.	7
HP:0000178	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:0000178	HP:0000179	Thick lower lip vermilion	1	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome		17
HP:0000178	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:0000178	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
HP:0000178	HP:0000232	Everted lower lip vermilion	1	ZSWIM6 CL E G H	57688	29316	OMIM:617865	Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features	.	5