Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	Onset	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	AARS1 CL E G H	16	20	OMIM:619691	TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE; TTD8
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	AASS CL E G H	10157	17366	ORPHA:2203	Hyperlysinemia			15
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	ABCC8 CL E G H	6833	59	ORPHA:79134	DEND syndrome			245
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	ABCC9 CL E G H	10060	60	OMIM:239850	Hypertrichotic osteochondrodysplasia			254
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	ABCC9 CL E G H	10060	60	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type			254
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	ABCC9 CL E G H	10060	60	OMIM:619719	INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS			254
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	ACER3 CL E G H	55331	16066	OMIM:617762	Leukodystrophy, progressive, early childhood-onset
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	ACTA1 CL E G H	58	129	ORPHA:171433	Intermediate nemaline myopathy			96
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	ACTB CL E G H	60	132	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome			72
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	ACTB CL E G H	60	132	OMIM:243310	Baraitser-Winter syndrome 1			72
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	ACTB CL E G H	60	132	OMIM:607371	Dystonia, juvenile-onset			72
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	ACTG1 CL E G H	71	144	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome			123
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	ACTG1 CL E G H	71	144	OMIM:614583	Baraitser-Winter syndrome 2			123
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	ADAMTS3 CL E G H	9508	219	ORPHA:2136	Hennekam syndrome			1
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	ADAMTSL1 CL E G H	92949	14632	ORPHA:521445	Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	ADAMTSL2 CL E G H	9719	14631	OMIM:231050	Geleophysic dysplasia 1			72
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	ADARB1 CL E G H	104	226	OMIM:618862	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES; NEDHYMS			1
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	ADGRG6 CL E G H	57211	13841	OMIM:616503	Lethal congenital contracture syndrome 9			5
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome			47
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	ADNP CL E G H	23394	15766	OMIM:615873	Helsmoortel-van der Aa syndrome			47
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	ADSL CL E G H	158	291	OMIM:103050	Adenylosuccinase deficiency			118
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	ADSL CL E G H	158	291	ORPHA:46	Adenylosuccinate lyase deficiency			118
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	AFF2 CL E G H	2334	3776	OMIM:309548	Mental retardation, X-linked, associated with fragile site fraxe			59
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS			1
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	AFF4 CL E G H	27125	17869	OMIM:616368	CHOPS syndrome			6
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome			6
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	AGL CL E G H	178	321	OMIM:232400	Glycogen storage disease III			216
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	AGO2 CL E G H	27161	3263	OMIM:619149	LESSEL-KREIENKAMP SYNDROME; LESKRES
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	ALDH6A1 CL E G H	4329	7179	OMIM:614105	Methylmalonate semialdehyde dehydrogenase deficiency			35
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	ALG11 CL E G H	440138	32456	ORPHA:280071	ALG11-CDG			41
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG			68
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	ALG12 CL E G H	79087	19358	OMIM:607143	Congenital disorder of glycosylation, type Ig			68
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	ALG13 CL E G H	79868	30881	ORPHA:324422	ALG13-CDG			96
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	ALG8 CL E G H	79053	23161	OMIM:608104	Congenital disorder of glycosylation, type Ih			46
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG			93
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	ALG9 CL E G H	79796	15672	OMIM:608776	Congenital disorder of glycosylation, type Il			93
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	ALG9 CL E G H	79796	15672	OMIM:263210	Gillessen-Kaesbach-Nishimura syndrome			93
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	ALX3 CL E G H	257	449	OMIM:136760	Frontonasal dysplasia 1			9
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	ALX4 CL E G H	60529	450	OMIM:613451	Frontonasal dysplasia 2			132
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	ALX4 CL E G H	60529	450	ORPHA:228390	Frontonasal dysplasia-alopecia-genital anomalies syndrome			132
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	ALX4 CL E G H	60529	450	ORPHA:52022	Potocki-Shaffer syndrome			132
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis			34
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	AMMECR1 CL E G H	9949	467	OMIM:300990	Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis			2
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	AMPD2 CL E G H	271	469	OMIM:615809	Pontocerebellar hypoplasia, type 9			21
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	ANKLE2 CL E G H	23141	29101	ORPHA:2512	Autosomal recessive primary microcephaly			3
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	ANKRD11 CL E G H	29123	21316	ORPHA:261250	16q24.3 microdeletion syndrome			102
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	ANKRD11 CL E G H	29123	21316	ORPHA:2332	KBG syndrome			102
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	ANKRD11 CL E G H	29123	21316	OMIM:148050	Kbg syndrome			102
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	ANKRD17 CL E G H	26057	23575	OMIM:619504	CHOPRA-AMIEL-GORDON SYNDROME; CAGS			2
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	ANO1 CL E G H	55107	21625	OMIM:620045
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	ANTXR1 CL E G H	84168	21014	ORPHA:2067	GAPO syndrome			8
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	AP1G1 CL E G H	164	555	OMIM:619467	USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT; USRISD
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	AP1S2 CL E G H	8905	560	ORPHA:85335	Fried syndrome			13
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	AP2M1 CL E G H	1173	564	OMIM:618587	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 60, WITH SEIZURES; MRD60
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	AP2M1 CL E G H	1173	564	ORPHA:1942	Myoclonic-astatic epilepsy
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	AP3B1 CL E G H	8546	566	OMIM:608233	Hermansky-Pudlak syndrome 2			83
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	AP3D1 CL E G H	8943	568	OMIM:617050	HERMANSKY-PUDLAK SYNDROME 10; HPS10			1
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	AP4B1 CL E G H	10717	572	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia			49
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	AP4B1 CL E G H	10717	572	OMIM:614066	Spastic paraplegia 47, autosomal recessive			49
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	AP4E1 CL E G H	23431	573	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia			48
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	AP4E1 CL E G H	23431	573	OMIM:613744	Spastic paraplegia 51, autosomal recessive			48
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	AP4M1 CL E G H	9179	574	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia			41
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	AP4M1 CL E G H	9179	574	OMIM:612936	Spastic paraplegia 50, autosomal recessive			41
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	AP4S1 CL E G H	11154	575	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia			18
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	AP4S1 CL E G H	11154	575	OMIM:614067	Spastic paraplegia 52, autosomal recessive			18
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	APC CL E G H	324	583	ORPHA:3258	Cenani-Lenz syndrome			3179
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	APC CL E G H	324	583	ORPHA:261584	Familial adenomatous polyposis due to 5q22.2 microdeletion			3179
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	ARHGAP31 CL E G H	57514	29216	OMIM:100300	Adams-Oliver syndrome 1			147
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	ARHGEF2 CL E G H	9181	682	OMIM:617523	Neurodevelopmental disorder with midbrain and hindbrain malformations			1
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome			88
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	ARID1A CL E G H	8289	11110	OMIM:614607	Coffin-Siris syndrome 2			88
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	ARID1B CL E G H	57492	18040	ORPHA:251056	6q25 microdeletion syndrome			219
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome			219
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1			219
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome			25
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	ARID2 CL E G H	196528	18037	OMIM:617808	Coffin-siris syndrome 6			25
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	ARSK CL E G H	153642	25239	OMIM:619698	MUCOPOLYSACCHARIDOSIS, TYPE X; MPS10
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome			1
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	ARX CL E G H	170302	18060	OMIM:300215	Lissencephaly, X-linked, 2			166
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	ASH1L CL E G H	55870	19088	OMIM:617796	Mental retardation, autosomal dominant 52			1
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	ASPM CL E G H	259266	19048	ORPHA:2512	Autosomal recessive primary microcephaly			512
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome			145
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	ASXL2 CL E G H	55252	23805	OMIM:617190	Shashi-Pena syndrome			7
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS			49
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	ATG7 CL E G H	10533	16935	OMIM:619422	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR31			1
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	ATIC CL E G H	471	794	ORPHA:250977	AICA-ribosiduria			4
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	ATIC CL E G H	471	794	OMIM:608688	Aicar transformylase/imp cyclohydrolase deficiency			4
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	ATN1 CL E G H	1822	3033	OMIM:618494	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies			16
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	ATP1A2 CL E G H	477	800	ORPHA:2131	Alternating hemiplegia of childhood			239
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	ATP1A3 CL E G H	478	801	ORPHA:2131	Alternating hemiplegia of childhood			150
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type			140
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	ATP6V0A2 CL E G H	23545	18481	OMIM:219200	Cutis laxa, autosomal recessive, type IIA			140
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome			140
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	ATP6V0A2 CL E G H	23545	18481	OMIM:278250	Wrinkly skin syndrome			140
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type			3
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome			5
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	ATP6V1B2 CL E G H	526	854	OMIM:616455	Zimmermann-Laband syndrome 2			5
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type			2
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	ATP6V1E1 CL E G H	529	857	OMIM:617402	Cutis laxa, autosomal recessive, type IIC			2
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	ATP7A CL E G H	538	869	OMIM:304150	Occipital horn syndrome			192
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	ATP7A CL E G H	538	869	ORPHA:198	Occipital horn syndrome			192
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	ATRX CL E G H	546	886	ORPHA:847	Alpha-thalassemia-X-linked intellectual disability syndrome			169
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	ATRX CL E G H	546	886	OMIM:301040	Alpha-Thalassemia/mental retardation syndrome, X-linked			169
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	ATRX CL E G H	546	886	OMIM:309580	Mental retardation-hypotonic facies syndrome, X-linked, 1			169
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	AUTS2 CL E G H	26053	14262	ORPHA:352490	Autism spectrum disorder due to AUTS2 deficiency			61
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	AUTS2 CL E G H	26053	14262	OMIM:615834	Mental retardation, autosomal dominant 26			61
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	AVP CL E G H	551	894	OMIM:125700	Diabetes insipidus, Neurohypophyseal type			22
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome			38
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	B3GALT6 CL E G H	126792	17978	OMIM:615349	Ehlers-Danlos syndrome, spondylodysplastic type, 2			38
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	B3GALT6 CL E G H	126792	17978	ORPHA:2725	Eye defects-arachnodactyly-cardiopathy syndrome			38
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	B3GALT6 CL E G H	126792	17978	ORPHA:93359	Spondyloepimetaphyseal dysplasia with joint laxity			38
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	B3GALT6 CL E G H	126792	17978	OMIM:271640	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures			38
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	B3GAT3 CL E G H	26229	923	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects			5
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome			36
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome			36
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	B4GALT1 CL E G H	2683	924	ORPHA:79332	B4GALT1-CDG			85
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	BAP1 CL E G H	8314	950	OMIM:619762	KURY-ISIDOR SYNDROME; KURIS			184
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	BCAS3 CL E G H	54828	14347	OMIM:619641	HENGEL-MAROOFIAN-SCHOLS SYNDROME; HEMARS			2
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	BCL11A CL E G H	53335	13221	OMIM:617101	Intellectual developmental disorder with persistence of fetal hemoglobin			11
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	BCL11B CL E G H	64919	13222	OMIM:617237	Immunodeficiency 49			3
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	BCL11B CL E G H	64919	13222	OMIM:618092	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES			3
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	BCOR CL E G H	54880	20893	OMIM:309800	Microphthalmia, syndromic 1			101
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2			101
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	BCOR CL E G H	54880	20893	ORPHA:2712	Oculofaciocardiodental syndrome			101
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome			5
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	BMP1 CL E G H	649	1067	OMIM:614856	Osteogenesis imperfecta, type XIII			49
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	BMP2 CL E G H	650	1069	ORPHA:261295	20p12.3 microdeletion syndrome			13
HP:0000177	HP:0000177	Abnormal upper 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:0000177	HP:0000177	Abnormal upper lip morphology	0	BPTF CL E G H	2186	3581	ORPHA:529962	17q24.2 microdeletion syndrome			2
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	BPTF CL E G H	2186	3581	OMIM:617755	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES; NEDDFL			2
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome			276
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1			276
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	BRAT1 CL E G H	221927	21701	OMIM:618056	Neurodevelopmental disorder with cerebellar atrophy and with or without seizures			20
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	BRCA1 CL E G H	672	1100	OMIM:617883	Fanconi anemia, complementation group S			5769
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	BRCC3 CL E G H	79184	24185	ORPHA:280679	Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome			8
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	BRF1 CL E G H	2972	11551	ORPHA:444072	Cerebellar-facial-dental syndrome			7
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	BRPF1 CL E G H	7862	14255	OMIM:617333	Intellectual developmental disorder with dysmorphic facies and ptosis			10
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	BUB1B CL E G H	701	1149	OMIM:257300	Mosaic variegated aneuploidy syndrome 1			76
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	C12ORF57 CL E G H	113246	29521	OMIM:218340	Temtamy syndrome			13
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	CACNA1A CL E G H	773	1388	ORPHA:2131	Alternating hemiplegia of childhood			449
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	CACNA1C CL E G H	775	1390	OMIM:620029				572
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	CACNA1C CL E G H	775	1390	OMIM:601005	Timothy syndrome			572
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	CAMK2G CL E G H	818	1463	OMIM:618522	Intellectual developmental disorder 59			1
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	CAMTA1 CL E G H	23261	18806	OMIM:614756	Cerebellar ataxia, nonprogressive, with mental retardation			34
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	CAMTA1 CL E G H	23261	18806	ORPHA:314647	Non-progressive cerebellar ataxia with intellectual disability			34
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	CANT1 CL E G H	124583	19721	OMIM:251450	Desbuquois dysplasia 1			85
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	CASK CL E G H	8573	1497	OMIM:300749	Mental retardation and microcephaly with pontine and cerebellar hypoplasia			118
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	CASK CL E G H	8573	1497	ORPHA:163937	X-linked intellectual disability, Najm type			118
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome			3
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	CBL CL E G H	867	1541	OMIM:613563	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia			317
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	CC2D2A CL E G H	57545	29253	OMIM:612284	Meckel syndrome, type 6			247
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	CCBE1 CL E G H	147372	29426	OMIM:235510	Hennekam lymphangiectasia-lymphedema syndrome			147
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	CCBE1 CL E G H	147372	29426	ORPHA:2136	Hennekam syndrome			147
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	CCDC22 CL E G H	28952	28909	OMIM:300963	Ritscher-Schinzel syndrome 2			33
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	CCDC8 CL E G H	83987	25367	ORPHA:2616	3M syndrome			5
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	CCDC8 CL E G H	83987	25367	OMIM:614205	THREE M SYNDROME 3; 3M3			5
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	CCNK CL E G H	8812	1596	OMIM:618147	Intellectual developmental disorder with hypertelorism and distinctive facies			3
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	CCNQ CL E G H	92002	28434	ORPHA:140952	Syndactyly-telecanthus-anogenital and renal malformations syndrome			7
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	CCNQ CL E G H	92002	28434	OMIM:300707	Toe syndactyly, telecanthus, and anogenital and renal malformations			7
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	CD96 CL E G H	10225	16892	ORPHA:1308	C syndrome			83
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	CDC42 CL E G H	998	1736	ORPHA:487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome			6
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	CDC42 CL E G H	998	1736	OMIM:616737	Takenouchi-Kosaki syndrome			6
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	CDC6 CL E G H	990	1744	OMIM:613805	Meier-Gorlin syndrome 5			31
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	CDH1 CL E G H	999	1748	ORPHA:1997	Blepharo-cheilo-odontic syndrome			1003
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	CDH1 CL E G H	999	1748	OMIM:119580	Blepharocheilodontic syndrome 1			1003
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	CDH1 CL E G H	999	1748	OMIM:137215	Gastric cancer, hereditary diffuse			1003
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	CDH11 CL E G H	1009	1750	ORPHA:1299	Branchioskeletogenital syndrome			2
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	CDH11 CL E G H	1009	1750	OMIM:211380	Elsahy-Waters syndrome			2
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	CDH11 CL E G H	1009	1750	OMIM:619736	TEEBI HYPERTELORISM SYNDROME 2; TBHS2			2
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	CDH2 CL E G H	1000	1759	OMIM:618929	AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	CDK10 CL E G H	8558	1770	OMIM:617694	Al Kaissi syndrome			2
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder			8
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	CDK19 CL E G H	23097	19338	OMIM:618916	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 87; DEE87
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	CDK5RAP2 CL E G H	55755	18672	ORPHA:2512	Autosomal recessive primary microcephaly			181
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	CDK6 CL E G H	1021	1777	ORPHA:2512	Autosomal recessive primary microcephaly			6
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	CDKL5 CL E G H	6792	11411	ORPHA:505652	CDKL5-deficiency disorder			405
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	CDON CL E G H	50937	17104	ORPHA:93925	Alobar holoprosencephaly			200
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	CDON CL E G H	50937	17104	ORPHA:93924	Lobar holoprosencephaly			200
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	CDON CL E G H	50937	17104	ORPHA:280200	Microform holoprosencephaly			200
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	CDON CL E G H	50937	17104	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			200
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	CDON CL E G H	50937	17104	ORPHA:220386	Semilobar holoprosencephaly			200
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	CENPJ CL E G H	55835	17272	ORPHA:2512	Autosomal recessive primary microcephaly			161
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	CEP135 CL E G H	9662	29086	ORPHA:2512	Autosomal recessive primary microcephaly			38
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	CEP152 CL E G H	22995	29298	ORPHA:2512	Autosomal recessive primary microcephaly			146
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	CEP63 CL E G H	80254	25815	ORPHA:2512	Autosomal recessive primary microcephaly			31
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	CERT1 CL E G H	10087	2205	OMIM:616351	Mental retardation, autosomal dominant 34
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	CHAMP1 CL E G H	283489	20311	OMIM:616579	Mental retardation, autosomal dominant 40			16
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	CHD2 CL E G H	1106	1917	ORPHA:1942	Myoclonic-astatic epilepsy			227
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	CHD5 CL E G H	26038	16816	OMIM:619873
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome			515
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome			515
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	CHD8 CL E G H	57680	20153	OMIM:615032	AUTISM, SUSCEPTIBILITY TO, 18; AUTS18			72
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	CHMP1A CL E G H	5119	8740	OMIM:614961	Pontocerebellar hypoplasia, type 8			19
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	CHRNG CL E G H	1146	1967	ORPHA:2990	Autosomal recessive multiple pterygium syndrome			68
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	CHRNG CL E G H	1146	1967	OMIM:265000	Multiple pterygium syndrome, escobar variant			68
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	CHST14 CL E G H	113189	24464	OMIM:601776	Ehlers-Danlos syndrome, musculocontractural type 1			27
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	CHST14 CL E G H	113189	24464	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome			27
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	CHST3 CL E G H	9469	1971	ORPHA:263463	CHST3-related skeletal dysplasia			165
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	CHST3 CL E G H	9469	1971	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects			165
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations			165
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	CHSY1 CL E G H	22856	17198	OMIM:605282	Temtamy preaxial brachydactyly syndrome			16
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	CHUK CL E G H	1147	1974	OMIM:619339	BARTSOCAS-PAPAS SYNDROME 2; BPS2			3
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	CILK1 CL E G H	22858	21219	OMIM:612651	ENDOCRINE-CEREBROOSTEODYSPLASIA
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	CIT CL E G H	11113	1985	ORPHA:2512	Autosomal recessive primary microcephaly			15
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	CKAP2L CL E G H	150468	26877	ORPHA:3255	Filippi syndrome			7
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	CKAP2L CL E G H	150468	26877	OMIM:272440	Filippi syndrome			7
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	CLCF1 CL E G H	23529	17412	ORPHA:1545	Crisponi syndrome			6
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA			2
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	CLCN3 CL E G H	1182	2021	OMIM:619517	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ABNORMALITIES; NEDSBA			2
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	CLCN6 CL E G H	1185	2024	OMIM:619173	NEURODEGENERATION, CHILDHOOD-ONSET, WITH HYPOTONIA, RESPIRATORY INSUFFICIENCY, AND BRAIN IMAGING ABNORMALITIES; CONRIBA
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	CLIC2 CL E G H	1193	2063	ORPHA:324410	X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome			4
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	CLP1 CL E G H	10978	16999	OMIM:615803	Pontocerebellar hypoplasia, type 10			7
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	CLTC CL E G H	1213	2092	OMIM:617854	Mental retardation, autosomal dominant 56			1
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	CNOT1 CL E G H	23019	7877	OMIM:618500	Holoprosencephaly 12 with or without pancreatic agenesis			2
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	CNOT2 CL E G H	4848	7878	OMIM:618608	INTELLECTUAL DEVELOPMENTAL DISORDER WITH NASAL SPEECH, DYSMORPHIC FACIES, AND VARIABLE SKELETAL ANOMALIES; IDNADFS			2
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	CNOT3 CL E G H	4849	7879	OMIM:618672	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	COG1 CL E G H	9382	6545	ORPHA:263508	COG1-CDG			52
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	COG1 CL E G H	9382	6545	OMIM:611209	Congenital disorder of glycosylation, type IIg			52
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	COG7 CL E G H	91949	18622	OMIM:608779	Congenital disorder of glycosylation, type IIe			64
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	COL11A1 CL E G H	1301	2186	OMIM:228520	Fibrochondrogenesis 1			215
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	COL11A1 CL E G H	1301	2186	ORPHA:560	Marshall syndrome			215
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	COL11A1 CL E G H	1301	2186	OMIM:154780	Marshall syndrome			215
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	COL11A2 CL E G H	1302	2187	ORPHA:166100	Autosomal dominant otospondylomegaepiphyseal dysplasia			222
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	COL2A1 CL E G H	1280	2200	OMIM:200610	Achondrogenesis, type II			284
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	COL2A1 CL E G H	1280	2200	ORPHA:166100	Autosomal dominant otospondylomegaepiphyseal dysplasia			284
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	COL2A1 CL E G H	1280	2200	ORPHA:90653	Stickler syndrome type 1			284
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	COL3A1 CL E G H	1281	2201	OMIM:618343	Polymicrogyria with or without vascular-type ehlers-danlos syndrome			749
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	COLEC10 CL E G H	10584	2220	OMIM:248340	3MC syndrome 3			3
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	COLEC11 CL E G H	78989	17213	OMIM:265050	3mc syndrome 2			9
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome			6
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	COPB2 CL E G H	9276	2232	ORPHA:2512	Autosomal recessive primary microcephaly
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	COX7B CL E G H	1349	2291	OMIM:300887	Linear skin defects with multiple congenital anomalies 2			6
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	CPLANE1 CL E G H	65250	25801	OMIM:277170	Orofaciodigital syndrome VI
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	CPLX1 CL E G H	10815	2309	OMIM:617976	Epileptic encephalopathy, early infantile, 63			1
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome			1
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome			1
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	CREBBP CL E G H	1387	2348	OMIM:618332	MENKE-HENNEKAM SYNDROME 1; MKHK1			291
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1			291
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	CRLF1 CL E G H	9244	2364	ORPHA:1545	Crisponi syndrome			24
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	CRLF1 CL E G H	9244	2364	OMIM:272430	Crisponi/cold-induced sweating syndrome 1			24
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	CRTAP CL E G H	10491	2379	OMIM:610682	Osteogenesis imperfecta, type VII			124
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	CSF1R CL E G H	1436	2433	OMIM:618476	Brain abnormalities, neurodegeneration, and dysosteosclerosis			149
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	CSGALNACT1 CL E G H	55790	24290	OMIM:618870	SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE; SDJLABA
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	CSNK2A1 CL E G H	1457	2457	OMIM:617062	Okur-Chung neurodevelopmental syndrome			12
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	CSNK2B CL E G H	1460	2460	OMIM:618732	POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME; POBINDS			2
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome			2
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder			20
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	CTCF CL E G H	10664	13723	OMIM:615502	Mental retardation, autosomal dominant 21			20
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	CTNNB1 CL E G H	1499	2514	OMIM:615075	Neurodevelopmental disorder with spastic diplegia and visual defects			88
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	CTNNB1 CL E G H	1499	2514	ORPHA:404473	Severe intellectual disability-progressive spastic diplegia syndrome			88
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	CTNND1 CL E G H	1500	2515	ORPHA:1997	Blepharo-cheilo-odontic syndrome
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	CUL4B CL E G H	8450	2555	ORPHA:85293	X-linked intellectual disability, Cabezas type			38
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	CUL7 CL E G H	9820	21024	OMIM:273750	3-M syndrome 1			127
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	CUL7 CL E G H	9820	21024	ORPHA:2616	3M syndrome			127
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	CYFIP2 CL E G H	26999	13760	OMIM:618008	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65; EIEE65			1
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	CYP26C1 CL E G H	340665	20577	ORPHA:398189	Focal facial dermal dysplasia type IV			2
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	DCHS1 CL E G H	8642	13681	OMIM:601390	Van maldergem syndrome 1			27
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	DCPS CL E G H	28960	29812	OMIM:616459	Al-Raqad syndrome			5
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	DDB1 CL E G H	1642	2717	OMIM:619426	WHITE-KERNOHAN SYNDROME; WHIKERS
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	DDX3X CL E G H	1654	2745	OMIM:300958	MENTAL RETARDATION, X-LINKED 102; MRX102			57
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	DDX59 CL E G H	83479	25360	ORPHA:2919	Orofaciodigital syndrome type 5			2
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	DDX59 CL E G H	83479	25360	OMIM:174300	Orofaciodigital syndrome V			2
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	DDX6 CL E G H	1656	2747	OMIM:618653	INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	DEAF1 CL E G H	10522	14677	OMIM:615828	Mental retardation, autosomal dominant 24			33
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	DEAF1 CL E G H	10522	14677	ORPHA:819	Smith-Magenis syndrome			33
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	DENND5A CL E G H	23258	19344	OMIM:617281	Epileptic encephalopathy, early infantile, 49			6
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome			159
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome			159
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	DHODH CL E G H	1723	2867	ORPHA:246	Postaxial acrofacial dysostosis			59
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	DHODH CL E G H	1723	2867	OMIM:263750	Postaxial acrofacial dysostosis			59
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	DHPS CL E G H	1725	2869	OMIM:618480	Neurodevelopmental disorder with seizures and speech and walking impairment
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	DHX37 CL E G H	57647	17210	OMIM:618731	NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES; NEDBAVC			2
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	DIS3L2 CL E G H	129563	28648	ORPHA:2849	Perlman syndrome	HP:0040281 - Very frequent		164
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	DIS3L2 CL E G H	129563	28648	OMIM:267000	Perlman syndrome			164
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	DISP1 CL E G H	84976	19711	ORPHA:93925	Alobar holoprosencephaly			22
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	DISP1 CL E G H	84976	19711	ORPHA:93924	Lobar holoprosencephaly			22
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	DISP1 CL E G H	84976	19711	ORPHA:280200	Microform holoprosencephaly			22
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	DISP1 CL E G H	84976	19711	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			22
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	DISP1 CL E G H	84976	19711	ORPHA:220386	Semilobar holoprosencephaly			22
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	DLK1 CL E G H	8788	2907	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion			1
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	DLK1 CL E G H	8788	2907	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14			1
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	DLK1 CL E G H	8788	2907	ORPHA:254531	Temple syndrome due to paternal 14q32.2 hypomethylation			1
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	DLL1 CL E G H	28514	2908	ORPHA:93925	Alobar holoprosencephaly			3
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	DLL1 CL E G H	28514	2908	ORPHA:93924	Lobar holoprosencephaly			3
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	DLL1 CL E G H	28514	2908	ORPHA:280200	Microform holoprosencephaly			3
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	DLL1 CL E G H	28514	2908	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			3
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	DLL1 CL E G H	28514	2908	ORPHA:220386	Semilobar holoprosencephaly			3
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	DLL3 CL E G H	10683	2909	ORPHA:2311	Autosomal recessive spondylocostal dysostosis			45
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	DLX4 CL E G H	1748	2917	OMIM:616788	Orofacial cleft 15			1
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	DMPK CL E G H	1760	2933	ORPHA:589821	Congenital-onset Steinert myotonic dystrophy			152
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	DNMT3A CL E G H	1788	2978	ORPHA:404443	Tatton-Brown-Rahman syndrome			44
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	DNMT3A CL E G H	1788	2978	OMIM:615879	Tatton-Brown-Rahman syndrome			44
HP:0000177	HP:0000177	Abnormal upper 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:0000177	HP:0000177	Abnormal upper lip morphology	0	DOCK7 CL E G H	85440	19190	OMIM:615859	Epileptic encephalopathy, early infantile, 23			11
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	DPF2 CL E G H	5977	9964	OMIM:618027	Coffin-Siris syndrome 7
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	DPM1 CL E G H	8813	3005	OMIM:608799	Congenital disorder of glycosylation, type IE			27
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	DPM1 CL E G H	8813	3005	ORPHA:79322	DPM1-CDG			27
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	DPM2 CL E G H	8818	3006	OMIM:615042	Congenital disorder of glycosylation, type Iu			26
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	DPM2 CL E G H	8818	3006	ORPHA:329178	Congenital muscular dystrophy with intellectual disability and severe epilepsy			26
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	DPYD CL E G H	1806	3012	ORPHA:1675	Dihydropyrimidine dehydrogenase deficiency			144
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	DPYSL5 CL E G H	56896	20637	OMIM:619435	RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	DSE CL E G H	29940	21144	OMIM:615539	Ehlers-Danlos syndrome, musculocontractural type, 2			13
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	DSE CL E G H	29940	21144	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome			13
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome			14
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	DVL1 CL E G H	1855	3084	OMIM:180700	Robinow syndrome, autosomal dominant 1			14
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	DVL1 CL E G H	1855	3084	OMIM:616331	Robinow syndrome, autosomal dominant 2			14
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome			5
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	DVL3 CL E G H	1857	3087	OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3			5
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	DYNC2H1 CL E G H	79659	2962	OMIM:613091	Asphyxiating thoracic dystrophy 3			304
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	DYNC2H1 CL E G H	79659	2962	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type			304
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	DYNC2I1 CL E G H	55112	21862	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	DYNC2I2 CL E G H	89891	28296	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	DYNC2LI1 CL E G H	51626	24595	OMIM:617088	Short-rib thoracic dysplasia 15 with polydactyly			7
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	DYRK1A CL E G H	1859	3091	OMIM:614104	Mental retardation, autosomal dominant 7			134
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS			25
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	EDA CL E G H	1896	3157	OMIM:305100	Ectodermal dysplasia 1, hypohidrotic, X-linked			115
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	EDA CL E G H	1896	3157	ORPHA:181	X-linked hypohidrotic ectodermal dysplasia			115
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	EDA2R CL E G H	60401	17756	ORPHA:181	X-linked hypohidrotic ectodermal dysplasia			11
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	EDAR CL E G H	10913	2895	OMIM:224900	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive			86
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	EDARADD CL E G H	128178	14341	OMIM:224900	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive			56
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	EDEM3 CL E G H	80267	16787	OMIM:619493	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v; CDG2V
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	EED CL E G H	8726	3188	ORPHA:3447	Weaver syndrome			4
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	EEF1A2 CL E G H	1917	3192	OMIM:616393	Mental retardation, autosomal dominant 38			60
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	EFNB1 CL E G H	1947	3226	OMIM:304110	Craniofrontonasal syndrome			27
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	EFTUD2 CL E G H	9343	30858	OMIM:610536	Mandibulofacial dysostosis, Guion-Almeida type			48
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	EHMT1 CL E G H	79813	24650	OMIM:610253	Kleefstra syndrome			223
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	EIF2S3 CL E G H	1968	3267	OMIM:300148	Mehmo syndrome			8
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	EIF5A CL E G H	1984	3300	OMIM:619376	FAUNDES-BANKA SYNDROME; FABAS
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	ELN CL E G H	2006	3327	OMIM:123700	Cutis laxa, autosomal dominant 1			172
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome			172
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome			172
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	EMC1 CL E G H	23065	28957	OMIM:616875	Cerebellar atrophy, visual impairment, and psychomotor retardation			5
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	EMC1 CL E G H	23065	28957	ORPHA:480898	Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome			5
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	EP300 CL E G H	2033	3373	OMIM:618333	MENKE-HENNEKAM SYNDROME 2; MKHK2			250
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1			250
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	EPB41L1 CL E G H	2036	3378	OMIM:614257	MENTAL RETARDATION, AUTOSOMAL DOMINANT 11; MRD11			29
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome			40
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	ERCC1 CL E G H	2067	3433	OMIM:610758	Cerebrooculofacioskeletal syndrome 4			20
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	ERCC6 CL E G H	2074	3438	OMIM:214150	Cerebrooculofacioskeletal syndrome 1			199
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	ERLIN2 CL E G H	11160	1356	ORPHA:209951	Autosomal recessive spastic paraplegia type 18			18
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	ERLIN2 CL E G H	11160	1356	ORPHA:280384	Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome			18
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	ERMARD CL E G H	55780	21056	ORPHA:75857	6q terminal deletion syndrome			36
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	ESCO2 CL E G H	157570	27230	OMIM:216100	Cleft lip/palate with abnormal thumbs and microcephaly			92
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome			92
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	ESCO2 CL E G H	157570	27230	ORPHA:3103	Roberts syndrome			92
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	EVC CL E G H	2121	3497	OMIM:225500	Ellis-Van creveld syndrome			209
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	EVC2 CL E G H	132884	19747	OMIM:225500	Ellis-Van creveld syndrome			137
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	EXOC2 CL E G H	55770	24968	OMIM:619306	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA; NEDFACH			1
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	EXOC6B CL E G H	23233	17085	ORPHA:93359	Spondyloepimetaphyseal dysplasia with joint laxity			3
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	EXOC7 CL E G H	23265	23214	OMIM:619072	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ATROPHY; NEDSEBA
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	EXOSC1 CL E G H	51013	17286	OMIM:619304	PONTOCEREBELLAR HYPOPLASIA, TYPE 1F; PCH1F
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	EXOSC2 CL E G H	23404	17097	OMIM:617763	Short stature, hearing loss, retinitis pigmentosa, and distinctive facies
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	EXT1 CL E G H	2131	3512	ORPHA:502	Trichorhinophalangeal syndrome type 2			96
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	EXT2 CL E G H	2132	3513	ORPHA:52022	Potocki-Shaffer syndrome			102
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	EXT2 CL E G H	2132	3513	OMIM:616682	Seizures, scoliosis, and macrocephaly/microcephaly syndrome			102
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	EXT2 CL E G H	2132	3513	ORPHA:466926	Seizures-scoliosis-macrocephaly syndrome			102
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome			3
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	EZH2 CL E G H	2146	3527	ORPHA:3447	Weaver syndrome			81
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome			81
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	FAM20C CL E G H	56975	22140	ORPHA:1832	Lethal osteosclerotic bone dysplasia			35
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	FAR1 CL E G H	84188	26222	ORPHA:438178	Fatty acyl-CoA reductase 1 deficiency			7
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	FAR1 CL E G H	84188	26222	OMIM:616154	PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER; PFCRD			7
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	FAT4 CL E G H	79633	23109	ORPHA:2136	Hennekam syndrome			114
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	FAT4 CL E G H	79633	23109	OMIM:615546	Van maldergem syndrome 2			114
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	FBN1 CL E G H	2200	3603	OMIM:102370	Acromicric dysplasia			1361
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	FBN1 CL E G H	2200	3603	ORPHA:969	Acromicric dysplasia			1361
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	FBN1 CL E G H	2200	3603	OMIM:614185	GELEOPHYSIC DYSPLASIA 2; GPHYSD2			1361
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	FBXO11 CL E G H	80204	13590	OMIM:618089	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities			7
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	FBXO28 CL E G H	23219	29046	OMIM:619777	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	FGD1 CL E G H	2245	3663	OMIM:305400	Aarskog-Scott syndrome			62
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	FGD1 CL E G H	2245	3663	ORPHA:915	Aarskog-Scott syndrome			62
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	FGF20 CL E G H	26281	3677	ORPHA:1848	Renal agenesis, bilateral			2
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	FGF3 CL E G H	2248	3681	ORPHA:2791	Otodental syndrome			18
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	FGF8 CL E G H	2253	3686	ORPHA:93925	Alobar holoprosencephaly			17
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	FGF8 CL E G H	2253	3686	ORPHA:93924	Lobar holoprosencephaly			17
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	FGF8 CL E G H	2253	3686	ORPHA:280200	Microform holoprosencephaly			17
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	FGF8 CL E G H	2253	3686	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			17
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	FGF8 CL E G H	2253	3686	ORPHA:220386	Semilobar holoprosencephaly			17
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	FGFR1 CL E G H	2260	3688	ORPHA:2117	Hartsfield syndrome			172
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	FGFR1 CL E G H	2260	3688	OMIM:615465	Hartsfield syndrome			172
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	FGFR1 CL E G H	2260	3688	OMIM:147950	Hypogonadotropic hypogonadism 2 with or without anosmia			172
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	FGFR1 CL E G H	2260	3688	ORPHA:93924	Lobar holoprosencephaly			172
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	FGFR1 CL E G H	2260	3688	ORPHA:280200	Microform holoprosencephaly			172
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	FGFR1 CL E G H	2260	3688	OMIM:166250	Osteoglophonic dysplasia			172
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	FGFR1 CL E G H	2260	3688	ORPHA:220386	Semilobar holoprosencephaly			172
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	FGFR1 CL E G H	2260	3688	OMIM:190440	Trigonocephaly 1			172
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	FGFR2 CL E G H	2263	3689	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis			175
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome			111
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome			111
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	FKRP CL E G H	79147	17997	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			157
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	FKTN CL E G H	2218	3622	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			184
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	FLCN CL E G H	201163	27310	OMIM:610883	Potocki-Lupski syndrome			332
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	FLI1 CL E G H	2313	3749	ORPHA:2308	Jacobsen syndrome			8
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	FLII CL E G H	2314	3750	ORPHA:819	Smith-Magenis syndrome
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	FLNA CL E G H	2316	3754	ORPHA:555877	FLNA-related X-linked myxomatous valvular dysplasia			493
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	FLNA CL E G H	2316	3754	OMIM:300048	Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked			493
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	FLNB CL E G H	2317	3755	OMIM:150250	Larsen syndrome			233
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	FOXA2 CL E G H	3170	5022	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	FOXC2 CL E G H	2303	3801	OMIM:153400	Lymphedema-Distichiasis syndrome			20
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	FOXC2 CL E G H	2303	3801	ORPHA:33001	Lymphedema-distichiasis syndrome			20
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	FOXG1 CL E G H	2290	3811	ORPHA:261144	FOXG1 syndrome due to 14q12 microdeletion			177
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	FOXG1 CL E G H	2290	3811	OMIM:613454	Rett syndrome, congenital variant			177
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	FOXH1 CL E G H	8928	3814	ORPHA:93925	Alobar holoprosencephaly			48
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	FOXH1 CL E G H	8928	3814	ORPHA:93924	Lobar holoprosencephaly			48
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	FOXH1 CL E G H	8928	3814	ORPHA:280200	Microform holoprosencephaly			48
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	FOXH1 CL E G H	8928	3814	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			48
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	FOXH1 CL E G H	8928	3814	ORPHA:220386	Semilobar holoprosencephaly			48
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	FOXL2 CL E G H	668	1092	ORPHA:572333	Blepharophimosis-ptosis-epicanthus inversus syndrome plus			92
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	FRAS1 CL E G H	80144	19185	ORPHA:2052	Fraser syndrome			353
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome			353
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	FREM1 CL E G H	158326	23399	OMIM:608980	Bifid nose with or without anorectal and renal anomalies			198
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	FREM2 CL E G H	341640	25396	ORPHA:2052	Fraser syndrome			263
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	FZD2 CL E G H	2535	4040	ORPHA:93328	Autosomal dominant omodysplasia
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	FZD2 CL E G H	2535	4040	OMIM:164745	OMODYSPLASIA
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome			10
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	GAD1 CL E G H	2571	4092	OMIM:619124	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE89			44
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	GALNT2 CL E G H	2590	4124	OMIM:618885	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	GAS1 CL E G H	2619	4165	ORPHA:93925	Alobar holoprosencephaly			2
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	GAS1 CL E G H	2619	4165	ORPHA:93924	Lobar holoprosencephaly			2
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	GAS1 CL E G H	2619	4165	ORPHA:280200	Microform holoprosencephaly			2
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	GAS1 CL E G H	2619	4165	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			2
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	GAS1 CL E G H	2619	4165	ORPHA:220386	Semilobar holoprosencephaly			2
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	GATAD2B CL E G H	57459	30778	OMIM:615074	Mental retardation, autosomal dominant 18			33
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	GATAD2B CL E G H	57459	30778	ORPHA:363686	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome			33
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	GBA1 CL E G H	2629	4177	OMIM:608013	Gaucher disease, perinatal lethal
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	GDF11 CL E G H	10220	4216	OMIM:619122	VERTEBRAL HYPERSEGMENTATION AND OROFACIAL ANOMALIES; VHO
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	GFRA1 CL E G H	2674	4243	ORPHA:1848	Renal agenesis, bilateral			1
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	GJA1 CL E G H	2697	4274	OMIM:164200	Oculodentodigital dysplasia			68
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia			68
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	GJA1 CL E G H	2697	4274	OMIM:257850	Oculodentodigital dysplasia, autosomal recessive			68
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			39
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			34
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	GLB1 CL E G H	2720	4298	ORPHA:79255	GM1 gangliosidosis type 1			120
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	GLI2 CL E G H	2736	4318	ORPHA:93925	Alobar holoprosencephaly			173
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	GLI2 CL E G H	2736	4318	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms			173
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	GLI2 CL E G H	2736	4318	OMIM:615849	Culler-Jones syndrome			173
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	GLI2 CL E G H	2736	4318	OMIM:610829	Holoprosencephaly 9			173
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	GLI2 CL E G H	2736	4318	ORPHA:93924	Lobar holoprosencephaly			173
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	GLI2 CL E G H	2736	4318	ORPHA:280200	Microform holoprosencephaly			173
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	GLI2 CL E G H	2736	4318	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			173
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	GLI2 CL E G H	2736	4318	ORPHA:220386	Semilobar holoprosencephaly			173
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	GLI3 CL E G H	2737	4319	OMIM:146510	Pallister-Hall syndrome			270
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	GLIS3 CL E G H	169792	28510	OMIM:610199	Diabetes mellitus, neonatal, with congenital hypothyroidism			143
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	GMPPA CL E G H	29926	22923	OMIM:615510	Alacrima, achalasia, and mental retardation syndrome			24
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	GNAI1 CL E G H	2770	4384	OMIM:619854
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42			12
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	GNE CL E G H	10020	23657	ORPHA:3166	Sialuria			173
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	GNE CL E G H	10020	23657	OMIM:269921	SIALURIA			173
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta			240
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome			8
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome			73
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1			73
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	GPC4 CL E G H	2239	4452	OMIM:301026	Keipert syndrome
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	GPC4 CL E G H	2239	4452	ORPHA:2662	Keipert syndrome
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	GPC6 CL E G H	10082	4454	ORPHA:93329	Autosomal recessive omodysplasia			99
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	GPC6 CL E G H	10082	4454	OMIM:258315	Omodysplasia 1			99
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	GREB1L CL E G H	80000	31042	ORPHA:1848	Renal agenesis, bilateral
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	GRHL3 CL E G H	57822	25839	ORPHA:888	Van der Woude syndrome			12
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	GRHL3 CL E G H	57822	25839	OMIM:606713	Van der woude syndrome 2			12
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	GRIA3 CL E G H	2892	4573	ORPHA:364028	X-linked intellectual disability due to GRIA3 mutations			30
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	GRIP1 CL E G H	23426	18708	ORPHA:2052	Fraser syndrome			80
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome			1
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome			1
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome			1
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	H3-3A CL E G H	3020	4764	OMIM:619720	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	H3-3B CL E G H	3021	4765	OMIM:619721	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2; BRYLIB2
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	H4C11 CL E G H	8363	4785	OMIM:619759	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 2; TEVANED2
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	H4C3 CL E G H	8364	4787	OMIM:619758	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	H4C9 CL E G H	8294	4793	OMIM:619951
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	HDAC6 CL E G H	10013	14064	ORPHA:163966	X-linked dominant chondrodysplasia, Chassaing-Lacombe type			2
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome			37
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	HDAC8 CL E G H	55869	13315	OMIM:300882	Cornelia de Lange syndrome 5			37
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	HDAC8 CL E G H	55869	13315	ORPHA:3459	Wilson-Turner syndrome			37
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome			38
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	HES7 CL E G H	84667	15977	ORPHA:2311	Autosomal recessive spondylocostal dysostosis			10
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	HESX1 CL E G H	8820	4877	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms			21
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	HIC1 CL E G H	3090	4909	ORPHA:531	Miller-Dieker syndrome	HP:0040281 - Very frequent
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome			3
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	HIVEP2 CL E G H	3097	4921	OMIM:616977	Mental retardation, autosomal dominant 43			13
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	HK1 CL E G H	3098	4922	OMIM:618547	NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES; NEDVIBA			11
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	HNRNPH2 CL E G H	3188	5042	OMIM:300986	MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB			3
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	HNRNPK CL E G H	3190	5044	ORPHA:352665	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion			8
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	HNRNPK CL E G H	3190	5044	ORPHA:453504	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation			8
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	HNRNPU CL E G H	3192	5048	ORPHA:238769	1q44 microdeletion syndrome			39
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	HOXB1 CL E G H	3211	5111	OMIM:614744	Facial paresis, hereditary congenital, 3			2
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	HOXD13 CL E G H	3239	5136	ORPHA:887	VACTERL/VATER association			25
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	HPDL CL E G H	84842	28242	OMIM:619026	NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	HRAS CL E G H	3265	5173	OMIM:137550	Melanocytic nevus syndrome, congenital			113
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	HSD17B4 CL E G H	3295	5213	OMIM:261515	D-bifunctional protein deficiency			98
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome			345
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome			345
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1			345
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	HUWE1 CL E G H	10075	30892	OMIM:309590	Mental retardation, x-linked syndromic, Turner type			98
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	HYLS1 CL E G H	219844	26558	ORPHA:2189	Hydrolethalus			31
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	HYLS1 CL E G H	219844	26558	OMIM:236680	Hydrolethalus syndrome 1			31
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	IARS2 CL E G H	55699	29685	OMIM:616007	Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia			25
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	IDH1 CL E G H	3417	5382	ORPHA:99646	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria			15
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	IER3IP1 CL E G H	51124	18550	OMIM:614231	Microcephaly, epilepsy, and diabetes syndrome			6
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	IFIH1 CL E G H	64135	18873	OMIM:182250	Singleton-Merten syndrome 1			28
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly			148
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	IFT43 CL E G H	112752	29669	OMIM:617866	SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY; SRTD18			11
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	IFT57 CL E G H	55081	17367	OMIM:617927	Orofaciodigital syndrome XVIII
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	IFT80 CL E G H	57560	29262	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type			65
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	IFT81 CL E G H	28981	14313	OMIM:617895	Short-Rib thoracic dysplasia 19 with or without polydactyly			2
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	IGF1R CL E G H	3480	5465	ORPHA:73273	Growth delay due to insulin-like growth factor I resistance			268
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	IGF1R CL E G H	3480	5465	OMIM:270450	Insulin-Like growth factor I, resistance to			268
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	IL1RAPL1 CL E G H	11141	5996	OMIM:300143	Mental retardation, X-linked 21			42
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	IL6ST CL E G H	3572	6021	OMIM:619750	IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES; IMD94
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	INPPL1 CL E G H	3636	6080	OMIM:258480	OPSISMODYSPLASIA			18
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	INTS1 CL E G H	26173	24555	OMIM:618571	NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES; NDCAGF
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	INTU CL E G H	27152	29239	OMIM:617926	OROFACIODIGITAL SYNDROME XVII; OFD17
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	IQSEC2 CL E G H	23096	29059	ORPHA:819	Smith-Magenis syndrome			119
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	IREB2 CL E G H	3658	6115	OMIM:618451	Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	IRF6 CL E G H	3664	6121	ORPHA:1300	Autosomal dominant popliteal pterygium syndrome			99
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	IRF6 CL E G H	3664	6121	ORPHA:199302	Isolated cleft lip			99
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	IRF6 CL E G H	3664	6121	OMIM:608864	Orofacial cleft 6, susceptibility to			99
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	IRF6 CL E G H	3664	6121	OMIM:119500	Popliteal pterygium syndrome			99
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	IRF6 CL E G H	3664	6121	ORPHA:888	Van der Woude syndrome			99
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	IRF6 CL E G H	3664	6121	OMIM:119300	van der Woude syndrome 1			99
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	IRX5 CL E G H	10265	14361	OMIM:611174	Hamamy syndrome			4
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	ITCH CL E G H	83737	13890	OMIM:613385	AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD			3
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	ITGA8 CL E G H	8516	6144	ORPHA:1848	Renal agenesis, bilateral			4
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome			2
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	JUP CL E G H	3728	6207	ORPHA:34217	Naxos disease			222
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	KANSL1 CL E G H	284058	24565	OMIM:610443	Koolen-De Vries syndrome			283
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	KARS1 CL E G H	3735	6215	OMIM:619147	LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS; LEPID
HP:0000177	HP:0000177	Abnormal upper 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:0000177	HP:0000177	Abnormal upper lip morphology	0	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome			34
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	KAT6A CL E G H	7994	13013	ORPHA:457193	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome			34
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	KAT6B CL E G H	23522	17582	ORPHA:85201	Genitopatellar syndrome			141
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	KATNB1 CL E G H	10300	6217	OMIM:616212	Lissencephaly 6, with microcephaly			10
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome			1
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	KCNH1 CL E G H	3756	6250	ORPHA:420561	Temple-Baraitser syndrome			13
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	KCNH1 CL E G H	3756	6250	OMIM:611816	Temple-Baraitser syndrome			13
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	KCNH1 CL E G H	3756	6250	OMIM:135500	Zimmermann-Laband syndrome 1			13
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	KCNJ11 CL E G H	3767	6257	ORPHA:79134	DEND syndrome			127
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	KCNJ2 CL E G H	3759	6263	OMIM:170390	Andersen cardiodysrhythmic periodic paralysis			193
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	KCNJ2 CL E G H	3759	6263	ORPHA:37553	Andersen-Tawil syndrome			193
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	KCNJ5 CL E G H	3762	6266	ORPHA:37553	Andersen-Tawil syndrome			128
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	KCNJ6 CL E G H	3763	6267	OMIM:614098	Keppen-Lubinsky syndrome			3
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	KCNJ6 CL E G H	3763	6267	ORPHA:435628	Keppen-Lubinsky syndrome			3
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	KCNJ8 CL E G H	3764	6269	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type			23
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	KCNK4 CL E G H	50801	6279	OMIM:618381	Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	KCNK9 CL E G H	51305	6283	OMIM:612292	BIRK-BAREL SYNDROME			4
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	KCNK9 CL E G H	51305	6283	ORPHA:166108	Intellectual disability, Birk-Barel type			4
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	KCNMA1 CL E G H	3778	6284	OMIM:618729	LIANG-WANG SYNDROME; LIWAS			114
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	KDF1 CL E G H	126695	26624	OMIM:617337	Ectodermal dysplasia 12, Hypohidrotic/hair/tooth/nail type			1
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	KDM1A CL E G H	23028	29079	OMIM:616728	Cleft palate, psychomotor retardation, and distinctive facial features			3
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	KDM1A CL E G H	23028	29079	ORPHA:477993	Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome			3
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	KDM3B CL E G H	51780	1337	OMIM:618846	DIETS-JONGMANS SYNDROME; DIJOS
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	KDM4B CL E G H	23030	29136	OMIM:619320	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	KDM5B CL E G H	10765	18039	OMIM:618109	Mental retardation, autosomal recessive 65			2
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	KDM5C CL E G H	8242	11114	OMIM:300534	Mental retardation, X-linked, syndromic, Claes-Jensen type			81
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	KIAA0753 CL E G H	9851	29110	OMIM:619479	SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY; SRTD21			4
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	KIDINS220 CL E G H	57498	29508	OMIM:617296	SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY; SINO			4
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	KIF11 CL E G H	3832	6388	OMIM:152950	Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation			46
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	KIF11 CL E G H	3832	6388	ORPHA:2526	Microcephaly-lymphedema-chorioretinopathy syndrome			46
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	KIF14 CL E G H	9928	19181	ORPHA:2512	Autosomal recessive primary microcephaly			9
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	KIF15 CL E G H	56992	17273	ORPHA:261323	21q22.11q22.12 microdeletion syndrome
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	KIF1A CL E G H	547	888	ORPHA:2836	PEHO syndrome	HP:0040281 - Very frequent		276
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome			167
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	KIF7 CL E G H	374654	30497	ORPHA:2189	Hydrolethalus			167
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	KIFBP CL E G H	26128	23419	OMIM:609460	Goldberg-Shprintzen syndrome
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	KIT CL E G H	3815	6342	ORPHA:2884	Piebaldism			327
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	KLHL41 CL E G H	10324	16905	ORPHA:171433	Intermediate nemaline myopathy			13
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	KMT2A CL E G H	4297	7132	ORPHA:319182	Wiedemann-Steiner syndrome			91
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	KMT2A CL E G H	4297	7132	OMIM:605130	Wiedemann-Steiner syndrome			91
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	KNL1 CL E G H	57082	24054	ORPHA:2512	Autosomal recessive primary microcephaly			112
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome			196
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	LARGE1 CL E G H	9215	6511	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			136
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	LARP7 CL E G H	51574	24912	OMIM:615071	Alazami syndrome			16
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	LARP7 CL E G H	51574	24912	ORPHA:319671	Alazami syndrome			16
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	LAS1L CL E G H	81887	25726	ORPHA:3459	Wilson-Turner syndrome			8
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	LEMD2 CL E G H	221496	21244	OMIM:619322	MARBACH-RUSTAD PROGEROID SYNDROME; MARUPS			1
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome			2
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	LFNG CL E G H	3955	6560	ORPHA:2311	Autosomal recessive spondylocostal dysostosis			13
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	LHX4 CL E G H	89884	21734	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms			43
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	LMBRD1 CL E G H	55788	23038	OMIM:277380	Methylmalonic aciduria and homocystinuria, Cblf type			46
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	LMNB1 CL E G H	4001	6637	OMIM:619179	MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT; MCPH26			44
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	LMX1B CL E G H	4010	6654	ORPHA:495818	9q33.3q34.11 microdeletion syndrome			165
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	LMX1B CL E G H	4010	6654	OMIM:161200	Nail-Patella syndrome			165
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	LRP4 CL E G H	4038	6696	ORPHA:3258	Cenani-Lenz syndrome			124
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	LRRC32 CL E G H	2615	4161	OMIM:619074	CLEFT PALATE, PROLIFERATIVE RETINOPATHY, AND DEVELOPMENTAL DELAY; CPPRDD
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	LTBP1 CL E G H	4052	6714	OMIM:619451	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE; ARCL2E
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	LTBP3 CL E G H	4054	6716	ORPHA:969	Acromicric dysplasia			12
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	LTBP3 CL E G H	4054	6716	OMIM:617809	Geleophysic dysplasia 3			12
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	LTBP4 CL E G H	8425	6717	OMIM:613177	Cutis laxa, autosomal recessive, type IC			92
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	MAB21L1 CL E G H	4081	6757	OMIM:618479	Cerebellar, ocular, craniofacial, and genital syndrome
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	MAB21L2 CL E G H	10586	6758	OMIM:615877	Microphthalmia/coloboma and skeletal dysplasia syndrome			5
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH			5
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	MAF CL E G H	4094	6776	ORPHA:1272	Aymé-Gripp syndrome			21
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	MAF CL E G H	4094	6776	OMIM:601088	Ayme-Gripp syndrome			21
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome			63
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome			63
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	MAGEL2 CL E G H	54551	6814	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1			63
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	MAGEL2 CL E G H	54551	6814	OMIM:615547	Schaaf-Yang syndrome			63
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	MAN1B1 CL E G H	11253	6823	ORPHA:397941	MAN1B1-CDG			93
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	MAN1B1 CL E G H	11253	6823	OMIM:614202	Rafiq syndrome			93
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	MAP1B CL E G H	4131	6836	OMIM:618918	PERIVENTRICULAR NODULAR HETEROTOPIA 9; PVNH9
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome			134
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome			178
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	MAP3K7 CL E G H	6885	6859	OMIM:157800	Cardiospondylocarpofacial syndrome			11
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	MAP3K7 CL E G H	6885	6859	OMIM:617137	Frontometaphyseal dysplasia 2			11
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	MAPK1 CL E G H	5594	6871	ORPHA:261330	Distal 22q11.2 microdeletion syndrome			2
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	MAPK1 CL E G H	5594	6871	OMIM:619087	NOONAN SYNDROME 13; NS13			2
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	MAPK8IP3 CL E G H	23162	6884	OMIM:618443	Neurodevelopmental disorder with or without variable brain abnormalities
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	MAPRE2 CL E G H	10982	6891	ORPHA:2505	Multiple benign circumferential skin creases on limbs			4
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	MAPRE2 CL E G H	10982	6891	OMIM:616734	Skin creases, congenital symmetric circumferential, 2			4
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	MARS2 CL E G H	92935	25133	OMIM:616430	Combined oxidative phosphorylation deficiency 25			25
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	MASP1 CL E G H	5648	6901	OMIM:257920	3mc syndrome 1			21
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	MBD5 CL E G H	55777	20444	ORPHA:228402	2q23.1 microdeletion syndrome			252
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1			252
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	MCM7 CL E G H	4176	6950	ORPHA:2512	Autosomal recessive primary microcephaly
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	MCPH1 CL E G H	79648	6954	ORPHA:2512	Autosomal recessive primary microcephaly			155
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q			3
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	MECP2 CL E G H	4204	6990	OMIM:300260	Mental retardation, x-linked syndromic, Lubs type			950
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	MECP2 CL E G H	4204	6990	ORPHA:1762	Proximal Xq28 duplication syndrome			950
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1			228
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR			228
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	MED12 CL E G H	9968	11957	ORPHA:776	Lujan-Fryns syndrome			228
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	MED12 CL E G H	9968	11957	OMIM:309520	Lujan-Fryns syndrome			228
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	MED12 CL E G H	9968	11957	OMIM:300895	Ohdo syndrome, X-linked			228
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	MED12 CL E G H	9968	11957	OMIM:305450	Opitz-Kaveggia syndrome			228
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	MED12L CL E G H	116931	16050	OMIM:618872	NIZON-ISIDOR SYNDROME; NIZIDS
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	MED13 CL E G H	9969	22474	OMIM:618009	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 61; MRD61			4
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	MED25 CL E G H	81857	28845	OMIM:616449	Basel-Vanagaite-Smirin-Yosef syndrome			43
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome			43
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	MED27 CL E G H	9442	2377	OMIM:619286	NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA; NEDSCAC
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	MEF2C CL E G H	4208	6996	ORPHA:228384	5q14.3 microdeletion syndrome			132
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	MEF2C CL E G H	4208	6996	OMIM:613443	Mental retardation, autosomal dominant 20			132
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	MEG3 CL E G H	55384	14575	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion			1
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	MEG3 CL E G H	55384	14575	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14			1
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	MEG3 CL E G H	55384	14575	ORPHA:254531	Temple syndrome due to paternal 14q32.2 hypomethylation			1
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2			13
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	MEIS2 CL E G H	4212	7001	ORPHA:261190	15q14 microdeletion syndrome			7
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	MEIS2 CL E G H	4212	7001	OMIM:600987	Cleft palate, cardiac defects, and mental retardation			7
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	MEOX1 CL E G H	4222	7013	OMIM:214300	Klippel-Feil syndrome, autosomal recessive			5
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	MESD CL E G H	23184	13520	OMIM:618644	OSTEOGENESIS IMPERFECTA, TYPE XX; OI20
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	MESP2 CL E G H	145873	29659	ORPHA:2311	Autosomal recessive spondylocostal dysostosis			45
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	METTL23 CL E G H	124512	26988	OMIM:615942	Mental retardation, autosomal recessive 44			13
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome			1
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	METTL5 CL E G H	29081	25006	ORPHA:2512	Autosomal recessive primary microcephaly
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	METTL5 CL E G H	29081	25006	OMIM:618665	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 72; MRT72
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	MFSD2A CL E G H	84879	25897	ORPHA:2512	Autosomal recessive primary microcephaly			5
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	MGP CL E G H	4256	7060	OMIM:245150	Keutel syndrome			33
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	MICU1 CL E G H	10367	1530	OMIM:615673	Myopathy with extrapyramidal signs			14
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome			57
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I			57
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	MID2 CL E G H	11043	7096	OMIM:300928	MENTAL RETARDATION, X-LINKED 101; MRX101			7
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	MINPP1 CL E G H	9562	7102	ORPHA:284339	Pontocerebellar hypoplasia type 7			3
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome			5
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1			127
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome			1
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome			1
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC			101
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	MMACHC CL E G H	25974	24525	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type			101
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	MOCS1 CL E G H	4337	7190	OMIM:252150	Molybdenum cofactor deficiency, complementation group A			96
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	MOCS2 CL E G H	4338	7193	OMIM:252160	Molybdenum cofactor deficiency, complementation group B			26
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	MPC1 CL E G H	51660	21606	OMIM:614741	Mitochondrial pyruvate carrier deficiency			6
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	MRPS28 CL E G H	28957	14513	OMIM:618958	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 47; COXPD47
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	MSL3 CL E G H	10943	7370	OMIM:301032	BASILICATA-AKHTAR SYNDROME; MRXSBA
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	MSX1 CL E G H	4487	7391	ORPHA:199302	Isolated cleft lip			12
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	MSX1 CL E G H	4487	7391	OMIM:608874	OROFACIAL CLEFT 5; OFC5			12
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	MSX2 CL E G H	4488	7392	OMIM:168500	Parietal foramina			45
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	MTOR CL E G H	2475	3942	ORPHA:457485	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome			68
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	MTOR CL E G H	2475	3942	OMIM:616638	Smith-Kingsmore syndrome			68
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	MTX2 CL E G H	10651	7506	OMIM:619127	MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	MUSK CL E G H	4593	7525	OMIM:208150	Fetal akinesia deformation sequence			72
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	MYH3 CL E G H	4621	7573	OMIM:193700	Arthrogryposis, distal, type 2A			166
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	MYH3 CL E G H	4621	7573	ORPHA:2990	Autosomal recessive multiple pterygium syndrome			166
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	MYH3 CL E G H	4621	7573	ORPHA:2053	Freeman-Sheldon syndrome			166
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	MYH8 CL E G H	4626	7578	OMIM:158300	Arthrogryposis, distal, type 7			93
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	MYL2 CL E G H	4633	7583	OMIM:619424	MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY; MFM12			131
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	MYMK CL E G H	389827	33778	ORPHA:1358	Carey-Fineman-Ziter syndrome			5
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	MYMX CL E G H	101929726	52391	OMIM:619941
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	MYMX CL E G H	101929726	52391	ORPHA:1358	Carey-Fineman-Ziter syndrome
HP:0000177	HP:0000177	Abnormal upper 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:0000177	HP:0000177	Abnormal upper lip morphology	0	MYOD1 CL E G H	4654	7611	OMIM:618975	MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES; MYODRIF
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	NAA10 CL E G H	8260	18704	OMIM:309800	Microphthalmia, syndromic 1			23
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome			23
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	NAA10 CL E G H	8260	18704	ORPHA:276432	Ogden syndrome			23
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	NAA20 CL E G H	51126	15908	OMIM:619717	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73; MRT73
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	NALCN CL E G H	259232	19082	OMIM:616266	Congenital contractures of the limbs and face, hypotonia, and developmental delay			48
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	NALCN CL E G H	259232	19082	ORPHA:2053	Freeman-Sheldon syndrome			48
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	NALCN CL E G H	259232	19082	OMIM:615419	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1			48
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	NALCN CL E G H	259232	19082	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome			48
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	NARS2 CL E G H	79731	26274	ORPHA:79134	DEND syndrome			34
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	NBAS CL E G H	51594	15625	OMIM:614800	Short stature, optic nerve atrophy, and pelger-huet anomaly			25
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	NBN CL E G H	4683	7652	ORPHA:647	Nijmegen breakage syndrome			706
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	NBN CL E G H	4683	7652	OMIM:251260	Nijmegen breakage syndrome			706
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	NCAPD3 CL E G H	23310	28952	ORPHA:2512	Autosomal recessive primary microcephaly			1
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	NCAPG2 CL E G H	54892	21904	OMIM:618460	Khan-Khan-Katsanis syndrome			2
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome			13
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	NDN CL E G H	4692	7675	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	NEB CL E G H	4703	7720	ORPHA:171433	Intermediate nemaline myopathy			745
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	NEB CL E G H	4703	7720	OMIM:256030	Nemaline myopathy 2, autosomal recessive			745
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	NECTIN1 CL E G H	5818	9706	ORPHA:3253	Cleft lip/palate-ectodermal dysplasia syndrome			4
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	NECTIN1 CL E G H	5818	9706	OMIM:225060	Cleft lip/palate-ectodermal dysplasia syndrome			4
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	NECTIN1 CL E G H	5818	9706	ORPHA:199302	Isolated cleft lip			4
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	NEK1 CL E G H	4750	7744	ORPHA:2751	Orofaciodigital syndrome type 2			101
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	NEK1 CL E G H	4750	7744	OMIM:263520	Short-Rib thoracic dysplasia 6 with or without polydactyly			101
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	NEK9 CL E G H	91754	18591	OMIM:617022	Lethal congenital contracture syndrome 10			9
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	NEXMIF CL E G H	340533	29433	OMIM:300912	Mental retardation, X-linked 98			52
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	NEXMIF CL E G H	340533	29433	ORPHA:1942	Myoclonic-astatic epilepsy			52
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	NEXMIF CL E G H	340533	29433	ORPHA:85277	X-linked intellectual disability, Cantagrel type			52
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	NF1 CL E G H	4763	7765	ORPHA:363700	Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion			1952
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	NFIA CL E G H	4774	7784	OMIM:613735	Brain malformations with or without urinary tract defects			12
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	NFIB CL E G H	4781	7785	OMIM:618286	Macrocephaly, acquired, with impaired intellectual development			1
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	NFIX CL E G H	4784	7788	ORPHA:447980	19p13.3 microduplication syndrome			40
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome			40
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome			494
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1			494
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	NKAP CL E G H	79576	29873	OMIM:301039	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE; MRXSHD
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	NLRP1 CL E G H	22861	14374	OMIM:615225	Palmoplantar carcinoma, multiple self-healing			37
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	NODAL CL E G H	4838	7865	ORPHA:93925	Alobar holoprosencephaly			45
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	NODAL CL E G H	4838	7865	ORPHA:93924	Lobar holoprosencephaly			45
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	NODAL CL E G H	4838	7865	ORPHA:280200	Microform holoprosencephaly			45
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	NODAL CL E G H	4838	7865	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			45
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	NODAL CL E G H	4838	7865	ORPHA:220386	Semilobar holoprosencephaly			45
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1			22
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome			10
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	NONO CL E G H	4841	7871	OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34			10
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	NOTCH2 CL E G H	4853	7882	OMIM:102500	Hajdu-Cheney syndrome			138
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome			138
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	NOTCH3 CL E G H	4854	7883	OMIM:130720	Lateral meningocele syndrome			144
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	NOTCH3 CL E G H	4854	7883	ORPHA:2789	Lateral meningocele syndrome			144
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	NOVA2 CL E G H	4858	7887	OMIM:618859	Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome			1
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	NRAS CL E G H	4893	7989	OMIM:137550	Melanocytic nevus syndrome, congenital			102
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	NRCAM CL E G H	4897	7994	OMIM:619833				2
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	NSD1 CL E G H	64324	14234	ORPHA:3447	Weaver syndrome			544
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	NSD2 CL E G H	7468	12766	OMIM:619695	RAUCH-STEINDL SYNDROME; RAUST			118
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome			118
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome			118
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	NSDHL CL E G H	50814	13398	OMIM:308050	Congenital hemidysplasia with ichthyosiform erythroderma and limb defects			34
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	NSRP1 CL E G H	84081	25305	OMIM:620001
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	NSUN2 CL E G H	54888	25994	OMIM:611091	Mental retardation, autosomal recessive 5			84
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	NUAK2 CL E G H	81788	29558	OMIM:619452	ANENCEPHALY 2; ANPH2
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	NUP107 CL E G H	57122	29914	OMIM:618348	Galloway-Mowat syndrome 7			5
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	NUP107 CL E G H	57122	29914	OMIM:616730	Nephrotic syndrome, type 11			5
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome			2
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	NXN CL E G H	64359	18008	OMIM:618529	Robinow syndrome, autosomal recessive 2			2
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	OBSL1 CL E G H	23363	29092	OMIM:612921	3-M syndrome 2			143
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	OBSL1 CL E G H	23363	29092	ORPHA:2616	3M syndrome			143
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	OCA2 CL E G H	4948	8101	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1			121
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	OCLN CL E G H	100506658	8104	OMIM:251290	Band-Like calcification with simplified gyration and polymicrogyria			23
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe			88
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	ODC1 CL E G H	4953	8109	OMIM:619075	BACHMANN-BUPP SYNDROME; BABS			1
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	OFD1 CL E G H	8481	2567	OMIM:300804	Joubert syndrome 10			201
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	OFD1 CL E G H	8481	2567	OMIM:311200	Orofaciodigital syndrome I			201
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	OFD1 CL E G H	8481	2567	ORPHA:2750	Orofaciodigital syndrome type 1			201
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	OFD1 CL E G H	8481	2567	OMIM:300209	Simpson-golabi-behmel syndrome, type 2			201
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	OGT CL E G H	8473	8127	OMIM:300997	Mental retardation, X-linked 106			4
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	OPHN1 CL E G H	4983	8148	OMIM:300486	Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance			55
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	ORC4 CL E G H	5000	8490	OMIM:613800	Meier-Gorlin syndrome 2			21
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	OSTM1 CL E G H	28962	21652	OMIM:259720	Osteopetrosis, autosomal recessive 5			73
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	OTUD6B CL E G H	51633	24281	ORPHA:505237	Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome			4
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	OTUD6B CL E G H	51633	24281	OMIM:617452	Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies			4
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	OTX2 CL E G H	5015	8522	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms			41
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	PACS1 CL E G H	55690	30032	ORPHA:329224	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome			24
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	PACS1 CL E G H	55690	30032	OMIM:615009	Schuurs-Hoeijmakers syndrome			24
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	PACS2 CL E G H	23241	23794	OMIM:618067	Epileptic encephalopathy, early infantile, 66
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	PAFAH1B1 CL E G H	5048	8574	ORPHA:531	Miller-Dieker syndrome	HP:0040281 - Very frequent		231
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	PAH CL E G H	5053	8582	ORPHA:2209	Maternal phenylketonuria			641
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	PAK3 CL E G H	5063	8592	OMIM:300558	MENTAL RETARDATION, X-LINKED 30; MRX30			27
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	PAM16 CL E G H	51025	29679	OMIM:613320	Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type			1
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	PARS2 CL E G H	25973	30563	OMIM:618437	Epileptic encephalopathy, early infantile, 75			14
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	PAX3 CL E G H	5077	8617	ORPHA:894	Waardenburg syndrome type 1			59
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	PAX3 CL E G H	5077	8617	ORPHA:896	Waardenburg syndrome type 3			59
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	PAX3 CL E G H	5077	8617	OMIM:193500	Waardenburg syndrome, type 1			59
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	PBX1 CL E G H	5087	8632	OMIM:617641	Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay			3
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	PCDHGC4 CL E G H	56098	8717	OMIM:619880
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	PCGF2 CL E G H	7703	12929	OMIM:618371	Turnpenny-Fry syndrome
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	PCLO CL E G H	27445	13406	OMIM:608027	Pontocerebellar hypoplasia, type 3			6
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	PDCD6IP CL E G H	10015	8766	OMIM:620047
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	PDE4D CL E G H	5144	8783	ORPHA:439822	PDE4D haploinsufficiency syndrome			113
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	PDGFRB CL E G H	5159	8804	OMIM:616592	Kosaki overgrowth syndrome			28
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	PDHA1 CL E G H	5160	8806	OMIM:312170	Pyruvate dehydrogenase e1-alpha deficiency			88
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	PEX26 CL E G H	55670	22965	OMIM:614872	Peroxisome biogenesis disorder 7A (zellweger)			106
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	PGAP2 CL E G H	27315	17893	OMIM:614207	Hyperphosphatasia with mental retardation syndrome 3			8
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	PGAP2 CL E G H	27315	17893	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			8
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	PGAP3 CL E G H	93210	23719	OMIM:615716	Hyperphosphatasia with mental retardation syndrome 4			20
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	PGAP3 CL E G H	93210	23719	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			20
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	PHC1 CL E G H	1911	3182	ORPHA:2512	Autosomal recessive primary microcephaly			16
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	PHF21A CL E G H	51317	24156	ORPHA:52022	Potocki-Shaffer syndrome			2
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	PHF8 CL E G H	23133	20672	ORPHA:85287	X-linked intellectual disability, Siderius type			23
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	PHGDH CL E G H	26227	8923	OMIM:256520	Neu-Laxova syndrome			37
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	PHIP CL E G H	55023	15673	OMIM:617991	Developmental delay, intellectual disability, obesity, and dysmorphic features			11
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	PHIP CL E G H	55023	15673	ORPHA:589905	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome			11
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	PIEZO2 CL E G H	63895	26270	OMIM:617146	Arthrogryposis, distal, with impaired proprioception and touch			77
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	PIEZO2 CL E G H	63895	26270	OMIM:248700	Marden-Walker syndrome			77
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	PIGB CL E G H	9488	8959	OMIM:618580	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80; DEE80
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	PIGG CL E G H	54872	25985	ORPHA:488635	Early-onset epilepsy-intellectual disability-brain anomalies syndrome			7
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome			7
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	PIGK CL E G H	10026	8965	OMIM:618879	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CEREBELLAR ATROPHY, WITH OR WITHOUT SEIZURES; NEDHCAS
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	PIGL CL E G H	9487	8966	ORPHA:3474	CHIME syndrome			36
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	PIGL CL E G H	9487	8966	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			36
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	PIGL CL E G H	9487	8966	OMIM:280000	Zunich neuroectodermal syndrome			36
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	PIGN CL E G H	23556	8967	ORPHA:2059	Fryns syndrome			37
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome			37
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	PIGN CL E G H	23556	8967	OMIM:614080	Multiple congenital anomalies-hypotonia-seizures syndrome 1			37
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	PIGO CL E G H	84720	23215	OMIM:614749	Hyperphosphatasia with mental retardation syndrome 2			84
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	PIGO CL E G H	84720	23215	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			84
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	PIGQ CL E G H	9091	14135	OMIM:618548	MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4; MCAHS4			3
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	PIGS CL E G H	94005	14937	OMIM:618143	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	PIGT CL E G H	51604	14938	ORPHA:369837	Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome			12
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	PIGT CL E G H	51604	14938	OMIM:615398	Multiple congenital anomalies-hypotonia-seizures syndrome 3			12
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	PIGU CL E G H	128869	15791	OMIM:618590	NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS; NEDBSS
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	PIGV CL E G H	55650	26031	OMIM:239300	Hyperphosphatasia with mental retardation			57
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	PIGV CL E G H	55650	26031	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			57
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	PIGW CL E G H	284098	23213	OMIM:616025	Glycosylphosphatidylinositol biosynthesis defect 11			6
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	PIGW CL E G H	284098	23213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			6
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	PIGY CL E G H	84992	28213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			2
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	PIK3CA CL E G H	5290	8975	OMIM:602501	Megalencephaly-Capillary malformation-polymicrogyria syndrome			162
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	PITX2 CL E G H	5308	9005	OMIM:180500	Axenfeld-rieger syndrome, type 1			51
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	PKDCC CL E G H	91461	25123	OMIM:618821	RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES; RLSDF
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	PLAA CL E G H	9373	9043	OMIM:617527	Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies			3
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	PLAA CL E G H	9373	9043	ORPHA:521426	PLAA-associated neurodevelopmental disorder			3
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	PLCH1 CL E G H	23007	29185	OMIM:619895
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	PLCH1 CL E G H	23007	29185	ORPHA:93925	Alobar holoprosencephaly
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	PLPBP CL E G H	11212	9457	OMIM:617290	Epilepsy, early-onset, vitamin b6-dependent			6
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia			150
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG			150
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	POC1A CL E G H	25886	24488	OMIM:614813	Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis			10
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome			35
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	POGZ CL E G H	23126	18801	ORPHA:468678	White-Sutton syndrome			35
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	POLR1B CL E G H	84172	20454	ORPHA:861	Treacher-Collins syndrome
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	POLR1C CL E G H	9533	20194	ORPHA:861	Treacher-Collins syndrome			38
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	POLR1D CL E G H	51082	20422	ORPHA:861	Treacher-Collins syndrome			31
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome			138
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome			138
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	POLR3GL CL E G H	84265	28466	OMIM:619234	SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	POMT1 CL E G H	10585	9202	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			213
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	POMT2 CL E G H	29954	19743	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			221
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	POMT2 CL E G H	29954	19743	OMIM:613150	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2			221
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	POR CL E G H	5447	9208	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis			76
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia			20
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	POU1F1 CL E G H	5449	9210	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms			36
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	POU4F1 CL E G H	5457	9218	ORPHA:314647	Non-progressive cerebellar ataxia with intellectual disability
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	PPM1D CL E G H	8493	9277	OMIM:617450	Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold			22
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	PPP1CB CL E G H	5500	9282	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair			9
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2			9
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	PPP1R12A CL E G H	4659	7618	OMIM:618820	GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	PPP1R15B CL E G H	84919	14951	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome			2
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	PPP1R21 CL E G H	129285	30595	OMIM:619383	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	PPP2CA CL E G H	5515	9299	OMIM:618354	Neurodevelopmental disorder and language delay with or without structural brain abnormalities			2
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	PPP2R1A CL E G H	5518	9302	OMIM:616362	Mental retardation, autosomal dominant 36			13
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	PPP2R3C CL E G H	55012	17485	OMIM:618419	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome			10
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	PPP3CA CL E G H	5530	9314	OMIM:617711	Epileptic encephalopathy, infantile or early childhood, 1			2
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome			28
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	PQBP1 CL E G H	10084	9330	ORPHA:93945	X-linked intellectual disability, Porteous type			28
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome			148
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	PRDX1 CL E G H	5052	9352	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	PREPL CL E G H	9581	30228	OMIM:616224	Myasthenic syndrome, congenital, 22			7
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	PRKACA CL E G H	5566	9380	OMIM:619142	CARDIOACROFACIAL DYSPLASIA 1; CAFD1			2
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	PRKACB CL E G H	5567	9381	OMIM:619143	CARDIOACROFACIAL DYSPLASIA 2; CAFD2			2
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	PRKAR1B CL E G H	5575	9390	OMIM:619680	MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME; MASNS			2
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	PRKDC CL E G H	5591	9413	OMIM:615966	Immunodeficiency 26 with or without neurologic abnormalities			42
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	PRMT7 CL E G H	54496	25557	OMIM:617157	Short stature, brachydactyly, intellectual developmental disability, and seizures			6
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	PRMT7 CL E G H	54496	25557	ORPHA:464288	Short stature-brachydactyly-obesity-global developmental delay syndrome			6
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	PROKR2 CL E G H	128674	15836	OMIM:244200	Hypogonadotropic hypogonadism 3 with or without anosmia			34
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	PROP1 CL E G H	5626	9455	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms			54
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	PSMC3 CL E G H	5702	9549	OMIM:619354	DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY; DCIDP
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	PSMD12 CL E G H	5718	9557	ORPHA:529962	17q24.2 microdeletion syndrome			4
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	PTCH1 CL E G H	5727	9585	ORPHA:93925	Alobar holoprosencephaly			665
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	PTCH1 CL E G H	5727	9585	OMIM:109400	Basal cell nevus syndrome			665
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	PTCH1 CL E G H	5727	9585	OMIM:610828	Holoprosencephaly 7			665
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	PTCH1 CL E G H	5727	9585	ORPHA:93924	Lobar holoprosencephaly			665
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	PTCH1 CL E G H	5727	9585	ORPHA:280200	Microform holoprosencephaly			665
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	PTCH1 CL E G H	5727	9585	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			665
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	PTCH1 CL E G H	5727	9585	ORPHA:77301	Monosomy 9q22.3			665
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	PTCH1 CL E G H	5727	9585	ORPHA:220386	Semilobar holoprosencephaly			665
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	PTCH2 CL E G H	8643	9586	OMIM:109400	Basal cell nevus syndrome			40
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	PTEN CL E G H	5728	9588	ORPHA:109	Bannayan-Riley-Ruvalcaba syndrome			948
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	PTEN CL E G H	5728	9588	OMIM:605309	Macrocephaly/autism syndrome			948
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	PTH1R CL E G H	5745	9608	ORPHA:50945	Blomstrand lethal chondrodysplasia			58
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	PTH1R CL E G H	5745	9608	OMIM:600002	Eiken syndrome			58
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	PTPRF CL E G H	5792	9670	OMIM:616001	Breasts and/or nipples, aplasia or hypoplasia of, 2			1
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	PTRH2 CL E G H	51651	24265	ORPHA:456312	Infantile multisystem neurologic-endocrine-pancreatic disease			6
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	PTRH2 CL E G H	51651	24265	OMIM:616263	Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset			6
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome			19
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome			19
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	PUF60 CL E G H	22827	17042	OMIM:615583	Verheij syndrome			19
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	PURA CL E G H	5813	9701	OMIM:616158	Mental retardation, autosomal dominant 31			53
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	PURA CL E G H	5813	9701	ORPHA:438216	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation			53
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	PURA CL E G H	5813	9701	ORPHA:314655	Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion			53
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	PUS1 CL E G H	80324	15508	ORPHA:2598	Mitochondrial myopathy and sideroblastic anemia			57
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	PUS7 CL E G H	54517	26033	OMIM:618342	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	PYCR1 CL E G H	5831	9721	OMIM:612940	Cutis laxa, autosomal recessive, type IIB			53
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	PYCR2 CL E G H	29920	30262	ORPHA:2512	Autosomal recessive primary microcephaly			11
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	PYCR2 CL E G H	29920	30262	OMIM:616420	Leukodystrophy, hypomyelinating, 10			11
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	PYCR2 CL E G H	29920	30262	ORPHA:481152	PYCR2-related microcephaly-progressive leukoencephalopathy			11
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	QRICH1 CL E G H	54870	24713	OMIM:617982	VERVERI-BRADY SYNDROME; VERBRAS
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	RAB11B CL E G H	9230	9761	OMIM:617807	Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	RAB18 CL E G H	22931	14244	ORPHA:2510	Micro syndrome			85
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	RAB3GAP1 CL E G H	22930	17063	ORPHA:1387	Cataract-intellectual disability-hypogonadism syndrome			90
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	RAB3GAP1 CL E G H	22930	17063	ORPHA:2510	Micro syndrome			90
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	RAB3GAP2 CL E G H	25782	17168	ORPHA:1387	Cataract-intellectual disability-hypogonadism syndrome			135
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1			135
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	RAB3GAP2 CL E G H	25782	17168	ORPHA:2510	Micro syndrome			135
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	RAB5IF CL E G H	55969	15870	OMIM:616994
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	RAC3 CL E G H	5881	9803	OMIM:618577	NEURODEVELOPMENTAL DISORDER WITH STRUCTURAL BRAIN ANOMALIES AND DYSMORPHIC FACIES; NEDBAF			1
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome			25
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	RAD21 CL E G H	5885	9811	OMIM:614701	Cornelia de Lange syndrome 4			25
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	RAI1 CL E G H	10743	9834	ORPHA:477817	PMP22-RAI1 contiguous gene duplication syndrome			150
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	RAI1 CL E G H	10743	9834	ORPHA:819	Smith-Magenis syndrome			150
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	RAI1 CL E G H	10743	9834	OMIM:182290	Smith-Magenis syndrome			150
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	RALA CL E G H	5898	9839	OMIM:619311	HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME; HINCONS
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	RAPSN CL E G H	5913	9863	OMIM:618388	FETAL AKINESIA DEFORMATION SEQUENCE 2; FADS2			73
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome			16
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart			16
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	RET CL E G H	5979	9967	ORPHA:1848	Renal agenesis, bilateral			572
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	RHOBTB2 CL E G H	23221	18756	OMIM:618004	Epileptic encephalopathy, early infantile, 64			1
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	RIC1 CL E G H	57589	17686	OMIM:618761	CATIFA SYNDROME; CATIFA
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	RIN2 CL E G H	54453	18750	OMIM:613075	Macs syndrome			43
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	RIN2 CL E G H	54453	18750	ORPHA:217335	RIN2 syndrome			43
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	RIPK4 CL E G H	54101	496	ORPHA:1234	Bartsocas-Papas syndrome			69
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1			69
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	RIPPLY2 CL E G H	134701	21390	ORPHA:2311	Autosomal recessive spondylocostal dysostosis			3
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	RNF135 CL E G H	84282	21158	ORPHA:137634	Overgrowth-macrocephaly-facial dysmorphism syndrome			11
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	RNF2 CL E G H	6045	10061	OMIM:619460	LUO-SCHOCH-YAMAMOTO SYNDROME; LUSYAM
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I			15
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	RNU4ATAC CL E G H	100151683	34016	OMIM:616651	Roifman syndrome			15
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	RNU4ATAC CL E G H	100151683	34016	ORPHA:353298	Roifman syndrome			15
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome			120
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive			120
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	RPGRIP1L CL E G H	23322	29168	OMIM:611561	Meckel syndrome, type 5			167
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35			10
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	RPL10 CL E G H	6134	10298	ORPHA:459070	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome			10
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	RPL10 CL E G H	6134	10298	ORPHA:435938	X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome			10
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	RPL5 CL E G H	6125	10360	OMIM:612561	Diamond-Blackfan anemia 6			40
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	RPS19 CL E G H	6223	10402	OMIM:105650	Diamond-Blackfan anemia 1			42
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	RPS7 CL E G H	6201	10440	OMIM:612563	Diamond-Blackfan anemia 8			20
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	RSPO2 CL E G H	340419	28583	OMIM:618021	Tetraamelia syndrome 2
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	RSPRY1 CL E G H	89970	29420	ORPHA:457395	Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome			2
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	RSPRY1 CL E G H	89970	29420	OMIM:616723	Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type			2
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	RTL1 CL E G H	388015	14665	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	RTL1 CL E G H	388015	14665	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	RTL1 CL E G H	388015	14665	ORPHA:254531	Temple syndrome due to paternal 14q32.2 hypomethylation
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency			113
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	RUNX2 CL E G H	860	10472	OMIM:156510	Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly			90
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	RYR1 CL E G H	6261	10483	ORPHA:98905	Congenital multicore myopathy with external ophthalmoplegia			1200
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	RYR1 CL E G H	6261	10483	OMIM:619542	KING-DENBOROUGH SYNDROME; KDS			1200
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	SASS6 CL E G H	163786	25403	ORPHA:2512	Autosomal recessive primary microcephaly			4
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	SATB1 CL E G H	6304	10541	OMIM:619229	KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	SATB2 CL E G H	23314	21637	ORPHA:251019	2q32q33 microdeletion syndrome			34
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	SATB2 CL E G H	23314	21637	OMIM:612313	Glass syndrome			34
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	SATB2 CL E G H	23314	21637	ORPHA:251028	SATB2-associated syndrome due to a chromosomal rearrangement			34
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	SATB2 CL E G H	23314	21637	ORPHA:576283	SATB2-associated syndrome due to a pathogenic variant			34
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	SC5D CL E G H	6309	10547	ORPHA:46059	Lathosterolosis			80
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	SC5D CL E G H	6309	10547	OMIM:607330	LATHOSTEROLOSIS			80
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	SCN1A CL E G H	6323	10585	ORPHA:1942	Myoclonic-astatic epilepsy			1053
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	SEC23A CL E G H	10484	10701	ORPHA:50814	Craniolenticulosutural dysplasia			2
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	SEC23A CL E G H	10484	10701	OMIM:607812	Craniolenticulosutural dysplasia			2
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome			16
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	SETBP1 CL E G H	26040	15573	OMIM:616078	Mental retardation, autosomal dominant 29			143
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome			143
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	SETD1A CL E G H	9739	29010	OMIM:619056	NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND DYSMORPHIC FACIES; NEDSID			6
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	SETD5 CL E G H	55209	25566	ORPHA:404440	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency			43
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	SETD5 CL E G H	55209	25566	OMIM:615761	MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD23			43
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia			2
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type			49
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	SF3B4 CL E G H	10262	10771	ORPHA:245	Nager syndrome			49
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	SH3PXD2B CL E G H	285590	29242	OMIM:249420	Frank-ter Haar syndrome			134
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	SH3PXD2B CL E G H	285590	29242	ORPHA:137834	Frank-Ter Haar syndrome			134
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	SHANK3 CL E G H	85358	14294	OMIM:606232	Phelan-Mcdermid syndrome			53
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	SHH CL E G H	6469	10848	ORPHA:93925	Alobar holoprosencephaly			67
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	SHH CL E G H	6469	10848	ORPHA:93924	Lobar holoprosencephaly			67
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	SHH CL E G H	6469	10848	ORPHA:280200	Microform holoprosencephaly			67
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	SHH CL E G H	6469	10848	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			67
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	SHH CL E G H	6469	10848	ORPHA:220386	Semilobar holoprosencephaly			67
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	SHH CL E G H	6469	10848	OMIM:147250	Solitary median maxillary central incisor			67
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	SHMT2 CL E G H	6472	10852	OMIM:619121	NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	SHOC2 CL E G H	8036	15454	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair			74
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	SIM1 CL E G H	6492	10882	ORPHA:398079	SIM1-related Prader-Willi-like syndrome			40
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	SIN3A CL E G H	25942	19353	ORPHA:94065	15q24 microdeletion syndrome			9
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome			9
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	SIX3 CL E G H	6496	10889	ORPHA:93925	Alobar holoprosencephaly			32
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	SIX3 CL E G H	6496	10889	OMIM:157170	Holoprosencephaly 2			32
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	SIX3 CL E G H	6496	10889	ORPHA:93924	Lobar holoprosencephaly			32
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	SIX3 CL E G H	6496	10889	ORPHA:280200	Microform holoprosencephaly			32
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	SIX3 CL E G H	6496	10889	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			32
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	SIX3 CL E G H	6496	10889	ORPHA:220386	Semilobar holoprosencephaly			32
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome			150
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	SLC1A3 CL E G H	6507	10941	ORPHA:2131	Alternating hemiplegia of childhood			63
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	SLC25A46 CL E G H	91137	25198	OMIM:616505	Neuropathy, hereditary motor and sensory, type VIB			14
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	SLC26A2 CL E G H	1836	10994	ORPHA:93298	Achondrogenesis type 1B			166
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	SLC26A2 CL E G H	1836	10994	ORPHA:56304	Atelosteogenesis type II			166
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	SLC29A3 CL E G H	55315	23096	ORPHA:168569	H syndrome			68
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	SLC2A1 CL E G H	6513	11005	ORPHA:1942	Myoclonic-astatic epilepsy			255
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	SLC2A10 CL E G H	81031	13444	OMIM:208050	Arterial tortuosity syndrome			178
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	SLC2A10 CL E G H	81031	13444	ORPHA:3342	Arterial tortuosity syndrome			178
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	SLC35A1 CL E G H	10559	11021	OMIM:603585	Congenital disorder of glycosylation, type IIf			24
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	SLC35A2 CL E G H	7355	11022	OMIM:300896	Congenital disorder of glycosylation, type IIm			27
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II			71
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	SLC45A1 CL E G H	50651	17939	OMIM:617532	Intellectual developmental disorder with neuropsychiatric features			2
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	SLC6A1 CL E G H	6529	11042	ORPHA:1942	Myoclonic-astatic epilepsy			29
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	SLC6A17 CL E G H	388662	31399	OMIM:616269	Mental retardation, autosomal recessive 48			12
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	SLC6A17 CL E G H	388662	31399	ORPHA:457212	Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome			12
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	SLC9A7 CL E G H	84679	17123	OMIM:301024	Intellectual developmental disorder, X-linked 108
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	SMAD4 CL E G H	4089	6770	ORPHA:2588	Myhre syndrome			504
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	SMAD4 CL E G H	4089	6770	OMIM:139210	Myhre syndrome			504
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS			146
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome			146
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	SMARCA2 CL E G H	6595	11098	ORPHA:3051	Nicolaides-Baraitser syndrome			146
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome			617
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome			87
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	SMARCB1 CL E G H	6598	11103	OMIM:614608	Coffin-Siris syndrome 3			87
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome			1
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	SMARCC2 CL E G H	6601	11105	OMIM:618362	Coffin-Siris syndrome 8			1
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome			47
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	SMARCE1 CL E G H	6605	11109	OMIM:616938	Coffin-Siris syndrome 5			47
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome			135
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	SMC1A CL E G H	8243	11111	OMIM:300590	Cornelia de Lange syndrome 2			135
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	SMC1A CL E G H	8243	11111	OMIM:301044	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85			135
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	SMC1A CL E G H	8243	11111	ORPHA:220386	Semilobar holoprosencephaly			135
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome			91
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	SMC3 CL E G H	9126	2468	OMIM:610759	Cornelia de Lange syndrome 3			91
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	SMG8 CL E G H	55181	25551	OMIM:619268	ALZAHRANI-KUWAHARA SYNDROME; ALKUS
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	SMO CL E G H	6608	11119	OMIM:241800	Hypothalamic hamartomascongenital hypothalamic hamartoma syndrome, included			22
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	SMOC1 CL E G H	64093	20318	ORPHA:1106	Microphthalmia with limb anomalies			15
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	SMOC1 CL E G H	64093	20318	OMIM:206920	Microphthalmia with limb anomalies			15
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	SMPD4 CL E G H	55627	32949	OMIM:618622	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA			1
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	SMS CL E G H	6611	11123	OMIM:309583	Mental retardation, X-linked, syndromic, Snyder-Robinson type			19
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	SMS CL E G H	6611	11123	ORPHA:3063	X-linked intellectual disability, Snyder type			19
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	SNAI2 CL E G H	6591	11094	ORPHA:2884	Piebaldism			19
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	SNRPB CL E G H	6628	11153	OMIM:117650	Cerebrocostomandibular syndrome			6
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	SNRPN CL E G H	6638	11164	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1			37
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation			37
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	SNX14 CL E G H	57231	14977	ORPHA:397709	Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome			14
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	SNX14 CL E G H	57231	14977	OMIM:616354	Spinocerebellar ataxia, autosomal recessive 20			14
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome			12
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome			12
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome			14
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	SOX11 CL E G H	6664	11191	OMIM:615866	Mental retardation, autosomal dominant 27			14
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia			109
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	SPATA5L1 CL E G H	79029	28762	OMIM:619616	NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY; NEDHLS
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	SPECC1L CL E G H	23384	29022	OMIM:600251	Facial clefting, oblique, 1			6
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	SPECC1L CL E G H	23384	29022	OMIM:145420	Hypertelorism, Teebi type			6
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	SPECC1L CL E G H	23384	29022	ORPHA:1519	SPECC1L-related hypertelorism syndrome			6
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome			4
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS			4
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	SPOP CL E G H	8405	11254	OMIM:618828	NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS1			16
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	SPOP CL E G H	8405	11254	OMIM:618829	NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS2			16
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	SPRED2 CL E G H	200734	17722	OMIM:619745	NOONAN SYNDROME 14; NS14
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	SRCAP CL E G H	10847	16974	OMIM:619595	DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES; DEHMBA			138
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome			138
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome			138
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	SSR4 CL E G H	6748	11326	ORPHA:370927	SSR4-CDG			12
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	STAG2 CL E G H	10735	11355	ORPHA:93925	Alobar holoprosencephaly			1
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	STAG2 CL E G H	10735	11355	OMIM:301043	HOLOPROSENCEPHALY 13, X-LINKED; HPE13			1
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	STAG2 CL E G H	10735	11355	OMIM:301022	Neurodevelopmental disorder, X-linked, with craniofacial abnormalities			1
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	STAG2 CL E G H	10735	11355	ORPHA:220386	Semilobar holoprosencephaly			1
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	STEEP1 CL E G H	63932	26239	OMIM:301013	MENTAL RETARDATION, X-LINKED 107; MRX107
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	STIL CL E G H	6491	10879	ORPHA:93925	Alobar holoprosencephaly			99
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	STIL CL E G H	6491	10879	ORPHA:2512	Autosomal recessive primary microcephaly			99
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	STIL CL E G H	6491	10879	ORPHA:93924	Lobar holoprosencephaly			99
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	STIL CL E G H	6491	10879	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			99
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	STIL CL E G H	6491	10879	ORPHA:220386	Semilobar holoprosencephaly			99
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	STRADA CL E G H	92335	30172	OMIM:611087	Polyhydramnios, megalencephaly, and symptomatic epilepsy			6
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	STRADA CL E G H	92335	30172	ORPHA:500533	Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome			6
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	STT3A CL E G H	3703	6172	OMIM:619714	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT; CDG1WAD			21
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	STXBP1 CL E G H	6812	11444	ORPHA:495818	9q33.3q34.11 microdeletion syndrome			237
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	SUFU CL E G H	51684	16466	OMIM:109400	Basal cell nevus syndrome			124
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	SUFU CL E G H	51684	16466	ORPHA:280200	Microform holoprosencephaly			124
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	SUMF1 CL E G H	285362	20376	ORPHA:585	Multiple sulfatase deficiency			80
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	SUMO1 CL E G H	7341	12502	OMIM:613705	Orofacial cleft 10			8
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	SUPT16H CL E G H	11198	11465	OMIM:619480	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	SUZ12 CL E G H	23512	17101	ORPHA:3447	Weaver syndrome			1
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	SYNE1 CL E G H	23345	17089	ORPHA:319332	Autosomal recessive myogenic arthrogryposis multiplex congenita			1129
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	SYNGAP1 CL E G H	8831	11497	ORPHA:1942	Myoclonic-astatic epilepsy			108
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	SYT1 CL E G H	6857	11509	OMIM:618218	Baker-Gordon syndrome			1
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	SYT1 CL E G H	6857	11509	ORPHA:522077	Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome			1
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	TAB2 CL E G H	23118	17075	ORPHA:228410	Polyvalvular heart disease syndrome			11
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	TAF1 CL E G H	6872	11535	OMIM:300966	MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33			21
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	TAF1 CL E G H	6872	11535	ORPHA:480907	X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome			21
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	TAF13 CL E G H	6884	11546	ORPHA:2512	Autosomal recessive primary microcephaly			2
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	TAF6 CL E G H	6878	11540	OMIM:617126	Alazami-Yuan syndrome			5
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	TAF8 CL E G H	129685	17300	OMIM:619972
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	TALDO1 CL E G H	6888	11559	OMIM:606003	Transaldolase deficiency			34
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	TAOK1 CL E G H	57551	29259	OMIM:619575	DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	TAPT1 CL E G H	202018	26887	OMIM:616897	Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type			2
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	TASP1 CL E G H	55617	15859	OMIM:618950	SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	TBC1D20 CL E G H	128637	16133	ORPHA:2510	Micro syndrome			15
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	TBC1D20 CL E G H	128637	16133	OMIM:615663	Warburg micro syndrome 4			15
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	TBC1D24 CL E G H	57465	29203	OMIM:220500	Doors syndrome			271
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome			271
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	TBCE CL E G H	6905	11582	OMIM:241410	Hypoparathyroidism-Retardation-Dysmorphism syndrome			52
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	TBCE CL E G H	6905	11582	ORPHA:2323	Sanjad-Sakati syndrome			52
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	TBCK CL E G H	93627	28261	OMIM:616900	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3			13
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	TBCK CL E G H	93627	28261	ORPHA:488632	TBCK-related intellectual disability syndrome			13
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	TBL1XR1 CL E G H	79718	29529	OMIM:602342	Pierpont syndrome			22
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	TBL1XR1 CL E G H	79718	29529	ORPHA:487825	Pierpont syndrome			22
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	TBR1 CL E G H	10716	11590	ORPHA:1617	2q24 microdeletion syndrome			1
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome			32
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	TBX1 CL E G H	6899	11592	ORPHA:1727	22q11.2 duplication syndrome			32
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome			32
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	TCF20 CL E G H	6942	11631	OMIM:618430	Developmental delay with variable intellectual impairment and behavioral abnormalities			1
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	TCF3 CL E G H	6929	11633	OMIM:619824	AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B			2
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	TCF4 CL E G H	6925	11634	OMIM:610954	Pitt-Hopkins syndrome			241
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	TCF4 CL E G H	6925	11634	ORPHA:2896	Pitt-Hopkins syndrome			241
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	TCOF1 CL E G H	6949	11654	ORPHA:861	Treacher-Collins syndrome			140
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	TCTN2 CL E G H	79867	25774	OMIM:613885	Meckel syndrome, type 8			76
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4			31
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	TDGF1 CL E G H	6997	11701	ORPHA:93925	Alobar holoprosencephaly			1
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	TDGF1 CL E G H	6997	11701	ORPHA:93924	Lobar holoprosencephaly			1
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	TDGF1 CL E G H	6997	11701	ORPHA:280200	Microform holoprosencephaly			1
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	TDGF1 CL E G H	6997	11701	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			1
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	TDGF1 CL E G H	6997	11701	ORPHA:220386	Semilobar holoprosencephaly			1
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	TENM3 CL E G H	55714	29944	OMIM:615145	Microphthalmia, isolated, with coloboma 9			12
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	TET3 CL E G H	200424	28313	OMIM:618798	BECK-FAHRNER SYNDROME; BEFAHRS
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	TFAP2A CL E G H	7020	11742	ORPHA:1297	Branchio-oculo-facial syndrome			12
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome			12
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	TFAP2B CL E G H	7021	11743	OMIM:169100	Char syndrome			104
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	TFAP2B CL E G H	7021	11743	ORPHA:46627	Char syndrome			104
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	TGDS CL E G H	23483	20324	OMIM:616145	Catel-Manzke syndrome			6
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5			85
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	TGIF1 CL E G H	7050	11776	ORPHA:93925	Alobar holoprosencephaly			32
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	TGIF1 CL E G H	7050	11776	OMIM:142946	Holoprosencephaly 4			32
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	TGIF1 CL E G H	7050	11776	ORPHA:93924	Lobar holoprosencephaly			32
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	TGIF1 CL E G H	7050	11776	ORPHA:280200	Microform holoprosencephaly			32
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	TGIF1 CL E G H	7050	11776	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			32
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	TGIF1 CL E G H	7050	11776	ORPHA:220386	Semilobar holoprosencephaly			32
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	THOC6 CL E G H	79228	28369	ORPHA:363444	THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome			1
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	THUMPD1 CL E G H	55623	23807	OMIM:619989
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	TLK2 CL E G H	11011	11842	OMIM:618050	Mental retardation, autosomal dominant 57			1
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	TMCO1 CL E G H	54499	18188	ORPHA:1394	Cerebrofaciothoracic dysplasia			6
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome			6
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	TMEM147 CL E G H	10430	30414	OMIM:620075
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	TMEM237 CL E G H	65062	14432	OMIM:614424	Joubert syndrome 14			82
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	TMEM53 CL E G H	79639	26186	OMIM:619727	CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE; CTDI
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	TMEM70 CL E G H	54968	26050	OMIM:614052	Mitochondrial complex V (atp synthase) deficiency, nuclear type 2			63
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	TMEM70 CL E G H	54968	26050	ORPHA:1194	TMEM70-related mitochondrial encephalo-cardio-myopathy			63
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies			1
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	TNNI2 CL E G H	7136	11946	OMIM:601680	Arthrogryposis, distal, type 2B			37
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	TNPO2 CL E G H	30000	19998	OMIM:619556	INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND DYSMORPHIC FACIES; IDDHISD
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	TNRC6B CL E G H	23112	29190	OMIM:619243	GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES; GDSBA
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	TOE1 CL E G H	114034	15954	ORPHA:284339	Pontocerebellar hypoplasia type 7			6
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	TOE1 CL E G H	114034	15954	OMIM:614969	Pontocerebellar hypoplasia, type 7			6
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	TOR1A CL E G H	1861	3098	OMIM:618947	ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5			47
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	TP63 CL E G H	8626	15979	ORPHA:1072	Ankyloblepharon filiforme adnatum-cleft palate syndrome			140
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	TP63 CL E G H	8626	15979	OMIM:106260	Ankyloblepharon-Ectodermal defects-cleft lip/palate			140
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	TP63 CL E G H	8626	15979	ORPHA:199302	Isolated cleft lip			140
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	TP63 CL E G H	8626	15979	OMIM:129400	Rapp-Hodgkin syndrome			140
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	TPM3 CL E G H	7170	12012	ORPHA:171433	Intermediate nemaline myopathy			108
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	TRAPPC10 CL E G H	7109	11868	ORPHA:2512	Autosomal recessive primary microcephaly			1
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	TRAPPC14 CL E G H	55262	25604	ORPHA:2512	Autosomal recessive primary microcephaly
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	TRAPPC4 CL E G H	51399	19943	OMIM:618741	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, SPASTICITY, AND BRAIN ATROPHY; NEDESBA			1
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	TRAPPC9 CL E G H	83696	30832	ORPHA:352530	Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome			158
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	TRAPPC9 CL E G H	83696	30832	OMIM:613192	Mental retardation, autosomal recessive 13			158
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	TRIM8 CL E G H	81603	15579	OMIM:619428	FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME; FSGSNEDS			1
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	TRIO CL E G H	7204	12303	OMIM:618825	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY; MRD63			8
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	TRIO CL E G H	7204	12303	OMIM:617061	Mental retardation, autosomal dominant 44			8
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	TRIO CL E G H	7204	12303	ORPHA:476126	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome			8
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	TRIP11 CL E G H	9321	12305	ORPHA:93299	Achondrogenesis type 1A			133
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	TRIP11 CL E G H	9321	12305	OMIM:184260	Osteochondrodysplasia			133
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	TRIP12 CL E G H	9320	12306	OMIM:617752	Mental retardation, autosomal dominant 49			2
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	TRMT10A CL E G H	93587	28403	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome			7
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	TRPS1 CL E G H	7227	12340	ORPHA:77258	Trichorhinophalangeal syndrome type 1 and 3			171
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	TRPS1 CL E G H	7227	12340	ORPHA:502	Trichorhinophalangeal syndrome type 2			171
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	TRPS1 CL E G H	7227	12340	OMIM:190350	Trichorhinophalangeal syndrome, type I			171
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	TRPS1 CL E G H	7227	12340	OMIM:190351	Trichorhinophalangeal syndrome, type III			171
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism			2
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	TSPAN7 CL E G H	7102	11854	OMIM:300210	MENTAL RETARDATION, X-LINKED 58; MRX58			26
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	TTC5 CL E G H	91875	19274	OMIM:619244	NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM; NEDCAFD
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	TUBB CL E G H	203068	20778	ORPHA:2505	Multiple benign circumferential skin creases on limbs			14
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	TUBGCP2 CL E G H	10844	18599	OMIM:618737	PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES; PAMDDFS
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	TWIST1 CL E G H	7291	12428	OMIM:617746	Sweeney-Cox syndrome			18
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	TWIST2 CL E G H	117581	20670	OMIM:200110	Ablepharon-Macrostomia syndrome			7
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	TWIST2 CL E G H	117581	20670	OMIM:227260	FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE; FFDD3			7
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	TWIST2 CL E G H	117581	20670	ORPHA:1807	Focal facial dermal dysplasia type III			7
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	TXNL4A CL E G H	10907	30551	OMIM:608572	Burn-Mckeown syndrome			19
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type			7
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	UBE3B CL E G H	89910	13478	OMIM:244450	Kaufman oculocerebrofacial syndrome			13
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	UBE3B CL E G H	89910	13478	ORPHA:2707	Oculocerebrofacial syndrome, Kaufman type	HP:0040282 - Frequent		13
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	UBR7 CL E G H	55148	20344	OMIM:619189	LI-CAMPEAU SYNDROME; LICAS			1
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	UGDH CL E G H	7358	12525	OMIM:618792	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84; DEE84
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	UGP2 CL E G H	7360	12527	OMIM:618744	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	UNC80 CL E G H	285175	26582	OMIM:616801	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2			23
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	UNC80 CL E G H	285175	26582	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome			23
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	UPF3B CL E G H	65109	20439	ORPHA:776	Lujan-Fryns syndrome			33
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	USB1 CL E G H	79650	25792	OMIM:604173	Poikiloderma with neutropenia			8
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	USP9X CL E G H	8239	12632	OMIM:300968	Mental retardation, X-linked 99, syndromic, female-restricted			27
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	USP9X CL E G H	8239	12632	ORPHA:480880	X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability			27
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome			6
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	VAX1 CL E G H	11023	12660	OMIM:614402	Microphthalmia, syndromic 11			5
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	VPS13B CL E G H	157680	2183	OMIM:216550	Cohen syndrome			546
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	VPS13B CL E G H	157680	2183	ORPHA:193	Cohen syndrome			546
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	VPS35L CL E G H	57020	24641	OMIM:619135	RITSCHER-SCHINZEL SYNDROME 3; RTSC3
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	VPS51 CL E G H	738	1172	OMIM:618606	PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	WAC CL E G H	51322	17327	OMIM:616708	Desanto-Shinawi syndrome			20
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	WAC CL E G H	51322	17327	ORPHA:284169	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion			20
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	WAC CL E G H	51322	17327	ORPHA:466950	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation			20
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	WARS2 CL E G H	10352	12730	OMIM:617710	Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures			2
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	WARS2 CL E G H	10352	12730	ORPHA:572798	WARS2-related combined oxidative phosphorylation defect			2
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	WASHC4 CL E G H	23325	29174	OMIM:615817	Mental retardation, autosomal recessive 43			25
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	WDR19 CL E G H	57728	18340	OMIM:614378	Cranioectodermal dysplasia 4			95
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	WDR19 CL E G H	57728	18340	OMIM:614376	Short-Rib thoracic dysplasia 5 with or without polydactyly			95
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	WDR26 CL E G H	80232	21208	ORPHA:513456	Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome			8
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	WDR26 CL E G H	80232	21208	OMIM:617616	Skraban-Deardorff syndrome			8
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	WDR35 CL E G H	57539	29250	OMIM:613610	Cranioectodermal dysplasia 2			136
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	WDR35 CL E G H	57539	29250	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type			136
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	WDR37 CL E G H	22884	31406	OMIM:618652	NEUROOCULOCARDIOGENITOURINARY SYNDROME; NOCGUS
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	WDR4 CL E G H	10785	12756	OMIM:618346	Microcephaly, growth deficiency, seizures, and brain malformations
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	WDR62 CL E G H	284403	24502	ORPHA:2512	Autosomal recessive primary microcephaly			224
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	WLS CL E G H	79971	30238	OMIM:619648	ZAKI SYNDROME; ZKS
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	WNT3 CL E G H	7473	12782	OMIM:273395	Tetraamelia, autosomal recessive			12
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	WNT4 CL E G H	54361	12783	ORPHA:247768	Müllerian aplasia and hyperandrogenism			4
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome			98
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	WNT5A CL E G H	7474	12784	OMIM:180700	Robinow syndrome, autosomal dominant 1			98
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	WNT9B CL E G H	7484	12779	ORPHA:1848	Renal agenesis, bilateral
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	XYLT1 CL E G H	64131	15516	OMIM:615777	Desbuquois dysplasia 2			14
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	XYLT1 CL E G H	64131	15516	ORPHA:370930	XYLT1-CDG			14
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	XYLT2 CL E G H	64132	15517	ORPHA:85194	Spondylo-ocular syndrome			5
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	YAP1 CL E G H	10413	16262	OMIM:120433	Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation			2
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	YAP1 CL E G H	10413	16262	ORPHA:1473	Uveal coloboma-cleft lip and palate-intellectual disability			2
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	YARS2 CL E G H	51067	24249	ORPHA:2598	Mitochondrial myopathy and sideroblastic anemia			45
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	YWHAE CL E G H	7531	12851	ORPHA:531	Miller-Dieker syndrome	HP:0040281 - Very frequent		14
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome			7
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	ZBTB18 CL E G H	10472	13030	ORPHA:36367	Distal monosomy 1q			16
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	ZBTB18 CL E G H	10472	13030	OMIM:612337	Mental retardation, autosomal dominant 22			16
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	ZC4H2 CL E G H	55906	24931	OMIM:314580	Wieacker-Wolff syndrome			19
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	ZC4H2 CL E G H	55906	24931	OMIM:301041	WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR			19
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	ZDHHC9 CL E G H	51114	18475	ORPHA:776	Lujan-Fryns syndrome			10
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation			362
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22			362
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	ZIC2 CL E G H	7546	12873	ORPHA:93925	Alobar holoprosencephaly			34
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	ZIC2 CL E G H	7546	12873	OMIM:609637	Holoprosencephaly 5			34
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	ZIC2 CL E G H	7546	12873	ORPHA:93924	Lobar holoprosencephaly			34
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	ZIC2 CL E G H	7546	12873	ORPHA:280200	Microform holoprosencephaly			34
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	ZIC2 CL E G H	7546	12873	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			34
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	ZIC2 CL E G H	7546	12873	ORPHA:220386	Semilobar holoprosencephaly			34
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	ZMIZ1 CL E G H	57178	16493	OMIM:618659	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	ZNF148 CL E G H	7707	12933	OMIM:617260	Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies			4
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	ZNF292 CL E G H	23036	18410	OMIM:619188	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64; MRD64			3
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	ZNF407 CL E G H	55628	19904	OMIM:619557	SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES; SIMHA			68
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	ZNF462 CL E G H	58499	21684	OMIM:618619	WEISS-KRUSZKA SYNDROME; WSKA			4
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	ZNF526 CL E G H	116115	29415	OMIM:619877				24
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	ZNHIT3 CL E G H	9326	12309	OMIM:260565	Peho syndrome			1
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	ZNHIT3 CL E G H	9326	12309	ORPHA:2836	PEHO syndrome	HP:0040281 - Very frequent		1
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	ZPR1 CL E G H	8882	13051	OMIM:619321	GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES; GKAF
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	ZSWIM6 CL E G H	57688	29316	OMIM:603671	Acromelic frontonasal dysostosis			5
HP:0000177	HP:0000177	Abnormal upper lip morphology	0	ZSWIM6 CL E G H	57688	29316	ORPHA:1827	Acromelic frontonasal dysplasia			5
HP:0000177	HP:0040295	Duplication of the upper lip	1	CL E G H
HP:0000177	HP:0000288	Abnormality of the philtrum	1	AARS1 CL E G H	16	20	OMIM:619691	TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE; TTD8
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	AARS1 CL E G H	16	20	OMIM:619691	TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE; TTD8
HP:0000177	HP:0000288	Abnormality of the philtrum	1	AASS CL E G H	10157	17366	ORPHA:2203	Hyperlysinemia			15
HP:0000177	HP:0000288	Abnormality of the philtrum	1	ABCC8 CL E G H	6833	59	ORPHA:79134	DEND syndrome			245
HP:0000177	HP:0000288	Abnormality of the philtrum	1	ABCC9 CL E G H	10060	60	OMIM:239850	Hypertrichotic osteochondrodysplasia			254
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	ABCC9 CL E G H	10060	60	OMIM:239850	Hypertrichotic osteochondrodysplasia			254
HP:0000177	HP:0000288	Abnormality of the philtrum	1	ABCC9 CL E G H	10060	60	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type			254
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	ABCC9 CL E G H	10060	60	OMIM:619719	INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS			254
HP:0000177	HP:0000288	Abnormality of the philtrum	1	ACER3 CL E G H	55331	16066	OMIM:617762	Leukodystrophy, progressive, early childhood-onset
HP:0000177	HP:0000288	Abnormality of the philtrum	1	ACTA1 CL E G H	58	129	ORPHA:171433	Intermediate nemaline myopathy			96
HP:0000177	HP:0000288	Abnormality of the philtrum	1	ACTB CL E G H	60	132	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome			72
HP:0000177	HP:0000204	Cleft upper lip	1	ACTB CL E G H	60	132	OMIM:243310	Baraitser-Winter syndrome 1	HP:0040283 - Occasional		72
HP:0000177	HP:0000288	Abnormality of the philtrum	1	ACTB CL E G H	60	132	OMIM:243310	Baraitser-Winter syndrome 1			72
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	ACTB CL E G H	60	132	OMIM:243310	Baraitser-Winter syndrome 1			72
HP:0000177	HP:0000204	Cleft upper lip	1	ACTB CL E G H	60	132	OMIM:607371	Dystonia, juvenile-onset	.		72
HP:0000177	HP:0000288	Abnormality of the philtrum	1	ACTG1 CL E G H	71	144	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome			123
HP:0000177	HP:0000288	Abnormality of the philtrum	1	ACTG1 CL E G H	71	144	OMIM:614583	Baraitser-Winter syndrome 2			123
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	ACTG1 CL E G H	71	144	OMIM:614583	Baraitser-Winter syndrome 2			123
HP:0000177	HP:0000288	Abnormality of the philtrum	1	ADAMTS3 CL E G H	9508	219	ORPHA:2136	Hennekam syndrome			1
HP:0000177	HP:0000288	Abnormality of the philtrum	1	ADAMTSL1 CL E G H	92949	14632	ORPHA:521445	Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	ADAMTSL1 CL E G H	92949	14632	ORPHA:521445	Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome
HP:0000177	HP:0000288	Abnormality of the philtrum	1	ADAMTSL2 CL E G H	9719	14631	OMIM:231050	Geleophysic dysplasia 1			72
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	ADARB1 CL E G H	104	226	OMIM:618862	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES; NEDHYMS			1
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	ADGRG6 CL E G H	57211	13841	OMIM:616503	Lethal congenital contracture syndrome 9			5
HP:0000177	HP:0000288	Abnormality of the philtrum	1	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome			47
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome			47
HP:0000177	HP:0000288	Abnormality of the philtrum	1	ADNP CL E G H	23394	15766	OMIM:615873	Helsmoortel-van der Aa syndrome			47
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	ADNP CL E G H	23394	15766	OMIM:615873	Helsmoortel-van der Aa syndrome			47
HP:0000177	HP:0000288	Abnormality of the philtrum	1	ADSL CL E G H	158	291	OMIM:103050	Adenylosuccinase deficiency			118
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	ADSL CL E G H	158	291	OMIM:103050	Adenylosuccinase deficiency			118
HP:0000177	HP:0000288	Abnormality of the philtrum	1	ADSL CL E G H	158	291	ORPHA:46	Adenylosuccinate lyase deficiency			118
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	ADSL CL E G H	158	291	ORPHA:46	Adenylosuccinate lyase deficiency			118
HP:0000177	HP:0011341	Long upper lip	1	AFF2 CL E G H	2334	3776	OMIM:309548	Mental retardation, X-linked, associated with fragile site fraxe			59
HP:0000177	HP:0000288	Abnormality of the philtrum	1	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS			1
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS			1
HP:0000177	HP:0000288	Abnormality of the philtrum	1	AFF4 CL E G H	27125	17869	OMIM:616368	CHOPS syndrome			6
HP:0000177	HP:0000288	Abnormality of the philtrum	1	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome			6
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome			6
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	AGL CL E G H	178	321	OMIM:232400	Glycogen storage disease III			216
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	AGO2 CL E G H	27161	3263	OMIM:619149	LESSEL-KREIENKAMP SYNDROME; LESKRES
HP:0000177	HP:0000288	Abnormality of the philtrum	1	ALDH6A1 CL E G H	4329	7179	OMIM:614105	Methylmalonate semialdehyde dehydrogenase deficiency			35
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	ALDH6A1 CL E G H	4329	7179	OMIM:614105	Methylmalonate semialdehyde dehydrogenase deficiency			35
HP:0000177	HP:0000288	Abnormality of the philtrum	1	ALG11 CL E G H	440138	32456	ORPHA:280071	ALG11-CDG			41
HP:0000177	HP:0000288	Abnormality of the philtrum	1	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG			68
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG			68
HP:0000177	HP:0000288	Abnormality of the philtrum	1	ALG12 CL E G H	79087	19358	OMIM:607143	Congenital disorder of glycosylation, type Ig			68
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	ALG12 CL E G H	79087	19358	OMIM:607143	Congenital disorder of glycosylation, type Ig			68
HP:0000177	HP:0000288	Abnormality of the philtrum	1	ALG13 CL E G H	79868	30881	ORPHA:324422	ALG13-CDG			96
HP:0000177	HP:0000288	Abnormality of the philtrum	1	ALG8 CL E G H	79053	23161	OMIM:608104	Congenital disorder of glycosylation, type Ih			46
HP:0000177	HP:0000288	Abnormality of the philtrum	1	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG			93
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG			93
HP:0000177	HP:0000288	Abnormality of the philtrum	1	ALG9 CL E G H	79796	15672	OMIM:608776	Congenital disorder of glycosylation, type Il			93
HP:0000177	HP:0000288	Abnormality of the philtrum	1	ALG9 CL E G H	79796	15672	OMIM:263210	Gillessen-Kaesbach-Nishimura syndrome			93
HP:0000177	HP:0000204	Cleft upper lip	1	ALX3 CL E G H	257	449	OMIM:136760	Frontonasal dysplasia 1			9
HP:0000177	HP:0000288	Abnormality of the philtrum	1	ALX4 CL E G H	60529	450	OMIM:613451	Frontonasal dysplasia 2			132
HP:0000177	HP:0000288	Abnormality of the philtrum	1	ALX4 CL E G H	60529	450	ORPHA:228390	Frontonasal dysplasia-alopecia-genital anomalies syndrome			132
HP:0000177	HP:0000288	Abnormality of the philtrum	1	ALX4 CL E G H	60529	450	ORPHA:52022	Potocki-Shaffer syndrome			132
HP:0000177	HP:0000204	Cleft upper lip	1	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis	.		34
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	AMMECR1 CL E G H	9949	467	OMIM:300990	Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis			2
HP:0000177	HP:0000188	Short upper lip	1	AMPD2 CL E G H	271	469	OMIM:615809	Pontocerebellar hypoplasia, type 9	.		21
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	ANKLE2 CL E G H	23141	29101	ORPHA:2512	Autosomal recessive primary microcephaly			3
HP:0000177	HP:0000288	Abnormality of the philtrum	1	ANKRD11 CL E G H	29123	21316	ORPHA:261250	16q24.3 microdeletion syndrome			102
HP:0000177	HP:0000288	Abnormality of the philtrum	1	ANKRD11 CL E G H	29123	21316	ORPHA:2332	KBG syndrome			102
HP:0000177	HP:0000288	Abnormality of the philtrum	1	ANKRD11 CL E G H	29123	21316	OMIM:148050	Kbg syndrome			102
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	ANKRD11 CL E G H	29123	21316	ORPHA:2332	KBG syndrome			102
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	ANKRD11 CL E G H	29123	21316	OMIM:148050	Kbg syndrome			102
HP:0000177	HP:0000288	Abnormality of the philtrum	1	ANKRD17 CL E G H	26057	23575	OMIM:619504	CHOPRA-AMIEL-GORDON SYNDROME; CAGS			2
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	ANKRD17 CL E G H	26057	23575	OMIM:619504	CHOPRA-AMIEL-GORDON SYNDROME; CAGS			2
HP:0000177	HP:0000288	Abnormality of the philtrum	1	ANO1 CL E G H	55107	21625	OMIM:620045
HP:0000177	HP:0000288	Abnormality of the philtrum	1	ANTXR1 CL E G H	84168	21014	ORPHA:2067	GAPO syndrome			8
HP:0000177	HP:0000288	Abnormality of the philtrum	1	AP1G1 CL E G H	164	555	OMIM:619467	USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT; USRISD
HP:0000177	HP:0000288	Abnormality of the philtrum	1	AP1S2 CL E G H	8905	560	ORPHA:85335	Fried syndrome			13
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	AP2M1 CL E G H	1173	564	OMIM:618587	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 60, WITH SEIZURES; MRD60
HP:0000177	HP:0000288	Abnormality of the philtrum	1	AP2M1 CL E G H	1173	564	ORPHA:1942	Myoclonic-astatic epilepsy
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	AP2M1 CL E G H	1173	564	ORPHA:1942	Myoclonic-astatic epilepsy
HP:0000177	HP:0000288	Abnormality of the philtrum	1	AP3B1 CL E G H	8546	566	OMIM:608233	Hermansky-Pudlak syndrome 2			83
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	AP3B1 CL E G H	8546	566	OMIM:608233	Hermansky-Pudlak syndrome 2			83
HP:0000177	HP:0000288	Abnormality of the philtrum	1	AP3D1 CL E G H	8943	568	OMIM:617050	HERMANSKY-PUDLAK SYNDROME 10; HPS10			1
HP:0000177	HP:0000288	Abnormality of the philtrum	1	AP4B1 CL E G H	10717	572	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia			49
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	AP4B1 CL E G H	10717	572	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia			49
HP:0000177	HP:0000288	Abnormality of the philtrum	1	AP4B1 CL E G H	10717	572	OMIM:614066	Spastic paraplegia 47, autosomal recessive			49
HP:0000177	HP:0000288	Abnormality of the philtrum	1	AP4E1 CL E G H	23431	573	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia			48
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	AP4E1 CL E G H	23431	573	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia			48
HP:0000177	HP:0000288	Abnormality of the philtrum	1	AP4E1 CL E G H	23431	573	OMIM:613744	Spastic paraplegia 51, autosomal recessive			48
HP:0000177	HP:0000288	Abnormality of the philtrum	1	AP4M1 CL E G H	9179	574	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia			41
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	AP4M1 CL E G H	9179	574	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia			41
HP:0000177	HP:0000288	Abnormality of the philtrum	1	AP4M1 CL E G H	9179	574	OMIM:612936	Spastic paraplegia 50, autosomal recessive			41
HP:0000177	HP:0000288	Abnormality of the philtrum	1	AP4S1 CL E G H	11154	575	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia			18
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	AP4S1 CL E G H	11154	575	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia			18
HP:0000177	HP:0000288	Abnormality of the philtrum	1	AP4S1 CL E G H	11154	575	OMIM:614067	Spastic paraplegia 52, autosomal recessive			18
HP:0000177	HP:0000288	Abnormality of the philtrum	1	APC CL E G H	324	583	ORPHA:3258	Cenani-Lenz syndrome			3179
HP:0000177	HP:0000288	Abnormality of the philtrum	1	APC CL E G H	324	583	ORPHA:261584	Familial adenomatous polyposis due to 5q22.2 microdeletion			3179
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	APC CL E G H	324	583	ORPHA:261584	Familial adenomatous polyposis due to 5q22.2 microdeletion			3179
HP:0000177	HP:0000204	Cleft upper lip	1	ARHGAP31 CL E G H	57514	29216	OMIM:100300	Adams-Oliver syndrome 1	.		147
HP:0000177	HP:0000288	Abnormality of the philtrum	1	ARHGEF2 CL E G H	9181	682	OMIM:617523	Neurodevelopmental disorder with midbrain and hindbrain malformations			1
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	ARHGEF2 CL E G H	9181	682	OMIM:617523	Neurodevelopmental disorder with midbrain and hindbrain malformations			1
HP:0000177	HP:0000288	Abnormality of the philtrum	1	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome			88
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome			88
HP:0000177	HP:0000288	Abnormality of the philtrum	1	ARID1A CL E G H	8289	11110	OMIM:614607	Coffin-Siris syndrome 2			88
HP:0000177	HP:0000288	Abnormality of the philtrum	1	ARID1B CL E G H	57492	18040	ORPHA:251056	6q25 microdeletion syndrome			219
HP:0000177	HP:0000288	Abnormality of the philtrum	1	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome			219
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome			219
HP:0000177	HP:0000288	Abnormality of the philtrum	1	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1			219
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1			219
HP:0000177	HP:0000288	Abnormality of the philtrum	1	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome			25
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome			25
HP:0000177	HP:0000288	Abnormality of the philtrum	1	ARID2 CL E G H	196528	18037	OMIM:617808	Coffin-siris syndrome 6			25
HP:0000177	HP:0000288	Abnormality of the philtrum	1	ARSK CL E G H	153642	25239	OMIM:619698	MUCOPOLYSACCHARIDOSIS, TYPE X; MPS10
HP:0000177	HP:0000288	Abnormality of the philtrum	1	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome			1
HP:0000177	HP:0000288	Abnormality of the philtrum	1	ARX CL E G H	170302	18060	OMIM:300215	Lissencephaly, X-linked, 2			166
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	ARX CL E G H	170302	18060	OMIM:300215	Lissencephaly, X-linked, 2			166
HP:0000177	HP:0011341	Long upper lip	1	ARX CL E G H	170302	18060	OMIM:300215	Lissencephaly, X-linked, 2	.		166
HP:0000177	HP:0000288	Abnormality of the philtrum	1	ASH1L CL E G H	55870	19088	OMIM:617796	Mental retardation, autosomal dominant 52			1
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	ASPM CL E G H	259266	19048	ORPHA:2512	Autosomal recessive primary microcephaly			512
HP:0000177	HP:0000204	Cleft upper lip	1	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome	.		145
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	ASXL2 CL E G H	55252	23805	OMIM:617190	Shashi-Pena syndrome			7
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS			49
HP:0000177	HP:0000288	Abnormality of the philtrum	1	ATG7 CL E G H	10533	16935	OMIM:619422	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR31			1
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	ATIC CL E G H	471	794	ORPHA:250977	AICA-ribosiduria			4
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	ATIC CL E G H	471	794	OMIM:608688	Aicar transformylase/imp cyclohydrolase deficiency			4
HP:0000177	HP:0000288	Abnormality of the philtrum	1	ATN1 CL E G H	1822	3033	OMIM:618494	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies			16
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	ATN1 CL E G H	1822	3033	OMIM:618494	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies			16
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	ATP1A2 CL E G H	477	800	ORPHA:2131	Alternating hemiplegia of childhood			239
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	ATP1A3 CL E G H	478	801	ORPHA:2131	Alternating hemiplegia of childhood			150
HP:0000177	HP:0000288	Abnormality of the philtrum	1	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type			140
HP:0000177	HP:0000288	Abnormality of the philtrum	1	ATP6V0A2 CL E G H	23545	18481	OMIM:219200	Cutis laxa, autosomal recessive, type IIA			140
HP:0000177	HP:0000288	Abnormality of the philtrum	1	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome			140
HP:0000177	HP:0000288	Abnormality of the philtrum	1	ATP6V0A2 CL E G H	23545	18481	OMIM:278250	Wrinkly skin syndrome			140
HP:0000177	HP:0000288	Abnormality of the philtrum	1	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type			3
HP:0000177	HP:0000288	Abnormality of the philtrum	1	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome			5
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome			5
HP:0000177	HP:0000288	Abnormality of the philtrum	1	ATP6V1B2 CL E G H	526	854	OMIM:616455	Zimmermann-Laband syndrome 2			5
HP:0000177	HP:0000288	Abnormality of the philtrum	1	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type			2
HP:0000177	HP:0000288	Abnormality of the philtrum	1	ATP6V1E1 CL E G H	529	857	OMIM:617402	Cutis laxa, autosomal recessive, type IIC			2
HP:0000177	HP:0000288	Abnormality of the philtrum	1	ATP7A CL E G H	538	869	OMIM:304150	Occipital horn syndrome			192
HP:0000177	HP:0000288	Abnormality of the philtrum	1	ATP7A CL E G H	538	869	ORPHA:198	Occipital horn syndrome			192
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	ATRX CL E G H	546	886	ORPHA:847	Alpha-thalassemia-X-linked intellectual disability syndrome			169
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	ATRX CL E G H	546	886	OMIM:301040	Alpha-Thalassemia/mental retardation syndrome, X-linked			169
HP:0000177	HP:0000188	Short upper lip	1	ATRX CL E G H	546	886	OMIM:309580	Mental retardation-hypotonic facies syndrome, X-linked, 1	.		169
HP:0000177	HP:0000288	Abnormality of the philtrum	1	ATRX CL E G H	546	886	OMIM:309580	Mental retardation-hypotonic facies syndrome, X-linked, 1			169
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	ATRX CL E G H	546	886	OMIM:309580	Mental retardation-hypotonic facies syndrome, X-linked, 1			169
HP:0000177	HP:0000288	Abnormality of the philtrum	1	AUTS2 CL E G H	26053	14262	ORPHA:352490	Autism spectrum disorder due to AUTS2 deficiency			61
HP:0000177	HP:0000288	Abnormality of the philtrum	1	AUTS2 CL E G H	26053	14262	OMIM:615834	Mental retardation, autosomal dominant 26			61
HP:0000177	HP:0000288	Abnormality of the philtrum	1	AVP CL E G H	551	894	OMIM:125700	Diabetes insipidus, Neurohypophyseal type			22
HP:0000177	HP:0000288	Abnormality of the philtrum	1	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome			38
HP:0000177	HP:0011341	Long upper lip	1	B3GALT6 CL E G H	126792	17978	OMIM:615349	Ehlers-Danlos syndrome, spondylodysplastic type, 2	.		38
HP:0000177	HP:0000204	Cleft upper lip	1	B3GALT6 CL E G H	126792	17978	ORPHA:2725	Eye defects-arachnodactyly-cardiopathy syndrome			38
HP:0000177	HP:0011341	Long upper lip	1	B3GALT6 CL E G H	126792	17978	ORPHA:93359	Spondyloepimetaphyseal dysplasia with joint laxity	HP:0040283 - Occasional		38
HP:0000177	HP:0000288	Abnormality of the philtrum	1	B3GALT6 CL E G H	126792	17978	OMIM:271640	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures			38
HP:0000177	HP:0011341	Long upper lip	1	B3GALT6 CL E G H	126792	17978	OMIM:271640	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures	.		38
HP:0000177	HP:0000288	Abnormality of the philtrum	1	B3GAT3 CL E G H	26229	923	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects			5
HP:0000177	HP:0000204	Cleft upper lip	1	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome	HP:0040282 - Frequent		36
HP:0000177	HP:0000288	Abnormality of the philtrum	1	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome			36
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome			36
HP:0000177	HP:0000204	Cleft upper lip	1	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome	.		36
HP:0000177	HP:0000288	Abnormality of the philtrum	1	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome			36
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome			36
HP:0000177	HP:0000288	Abnormality of the philtrum	1	B4GALT1 CL E G H	2683	924	ORPHA:79332	B4GALT1-CDG			85
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	B4GALT1 CL E G H	2683	924	ORPHA:79332	B4GALT1-CDG			85
HP:0000177	HP:0000288	Abnormality of the philtrum	1	BAP1 CL E G H	8314	950	OMIM:619762	KURY-ISIDOR SYNDROME; KURIS			184
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	BAP1 CL E G H	8314	950	OMIM:619762	KURY-ISIDOR SYNDROME; KURIS			184
HP:0000177	HP:0000288	Abnormality of the philtrum	1	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0000177	HP:0000288	Abnormality of the philtrum	1	BCAS3 CL E G H	54828	14347	OMIM:619641	HENGEL-MAROOFIAN-SCHOLS SYNDROME; HEMARS			2
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	BCL11A CL E G H	53335	13221	OMIM:617101	Intellectual developmental disorder with persistence of fetal hemoglobin			11
HP:0000177	HP:0000288	Abnormality of the philtrum	1	BCL11B CL E G H	64919	13222	OMIM:617237	Immunodeficiency 49			3
HP:0000177	HP:0000288	Abnormality of the philtrum	1	BCL11B CL E G H	64919	13222	OMIM:618092	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES			3
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	BCL11B CL E G H	64919	13222	OMIM:618092	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES			3
HP:0000177	HP:0000288	Abnormality of the philtrum	1	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0000177	HP:0000204	Cleft upper lip	1	BCOR CL E G H	54880	20893	OMIM:309800	Microphthalmia, syndromic 1	.		101
HP:0000177	HP:0000288	Abnormality of the philtrum	1	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2			101
HP:0000177	HP:0000288	Abnormality of the philtrum	1	BCOR CL E G H	54880	20893	ORPHA:2712	Oculofaciocardiodental syndrome			101
HP:0000177	HP:0000288	Abnormality of the philtrum	1	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome			5
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome			5
HP:0000177	HP:0000288	Abnormality of the philtrum	1	BMP1 CL E G H	649	1067	OMIM:614856	Osteogenesis imperfecta, type XIII			49
HP:0000177	HP:0000288	Abnormality of the philtrum	1	BMP2 CL E G H	650	1069	ORPHA:261295	20p12.3 microdeletion syndrome			13
HP:0000177	HP:0000288	Abnormality of the philtrum	1	BMP2 CL E G H	650	1069	OMIM:617877	Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies			13
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	BMP2 CL E G H	650	1069	OMIM:617877	Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies			13
HP:0000177	HP:0000288	Abnormality of the philtrum	1	BPTF CL E G H	2186	3581	ORPHA:529962	17q24.2 microdeletion syndrome			2
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	BPTF CL E G H	2186	3581	ORPHA:529962	17q24.2 microdeletion syndrome			2
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	BPTF CL E G H	2186	3581	OMIM:617755	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES; NEDDFL			2
HP:0000177	HP:0000288	Abnormality of the philtrum	1	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome			276
HP:0000177	HP:0000288	Abnormality of the philtrum	1	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1			276
HP:0000177	HP:0000288	Abnormality of the philtrum	1	BRAT1 CL E G H	221927	21701	OMIM:618056	Neurodevelopmental disorder with cerebellar atrophy and with or without seizures			20
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	BRAT1 CL E G H	221927	21701	OMIM:618056	Neurodevelopmental disorder with cerebellar atrophy and with or without seizures			20
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	BRCA1 CL E G H	672	1100	OMIM:617883	Fanconi anemia, complementation group S			5769
HP:0000177	HP:0000288	Abnormality of the philtrum	1	BRCC3 CL E G H	79184	24185	ORPHA:280679	Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome			8
HP:0000177	HP:0000288	Abnormality of the philtrum	1	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome
HP:0000177	HP:0000288	Abnormality of the philtrum	1	BRF1 CL E G H	2972	11551	ORPHA:444072	Cerebellar-facial-dental syndrome			7
HP:0000177	HP:0000288	Abnormality of the philtrum	1	BRPF1 CL E G H	7862	14255	OMIM:617333	Intellectual developmental disorder with dysmorphic facies and ptosis			10
HP:0000177	HP:0000288	Abnormality of the philtrum	1	BUB1B CL E G H	701	1149	OMIM:257300	Mosaic variegated aneuploidy syndrome 1			76
HP:0000177	HP:0000288	Abnormality of the philtrum	1	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0000177	HP:0000288	Abnormality of the philtrum	1	C12ORF57 CL E G H	113246	29521	OMIM:218340	Temtamy syndrome			13
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	CACNA1A CL E G H	773	1388	ORPHA:2131	Alternating hemiplegia of childhood			449
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	CACNA1C CL E G H	775	1390	OMIM:620029				572
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	CACNA1C CL E G H	775	1390	OMIM:601005	Timothy syndrome			572
HP:0000177	HP:0000288	Abnormality of the philtrum	1	CAMK2G CL E G H	818	1463	OMIM:618522	Intellectual developmental disorder 59			1
HP:0000177	HP:0000288	Abnormality of the philtrum	1	CAMTA1 CL E G H	23261	18806	OMIM:614756	Cerebellar ataxia, nonprogressive, with mental retardation			34
HP:0000177	HP:0000288	Abnormality of the philtrum	1	CAMTA1 CL E G H	23261	18806	ORPHA:314647	Non-progressive cerebellar ataxia with intellectual disability			34
HP:0000177	HP:0000288	Abnormality of the philtrum	1	CANT1 CL E G H	124583	19721	OMIM:251450	Desbuquois dysplasia 1			85
HP:0000177	HP:0000288	Abnormality of the philtrum	1	CASK CL E G H	8573	1497	OMIM:300749	Mental retardation and microcephaly with pontine and cerebellar hypoplasia			118
HP:0000177	HP:0000288	Abnormality of the philtrum	1	CASK CL E G H	8573	1497	ORPHA:163937	X-linked intellectual disability, Najm type			118
HP:0000177	HP:0000288	Abnormality of the philtrum	1	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome			3
HP:0000177	HP:0000288	Abnormality of the philtrum	1	CBL CL E G H	867	1541	OMIM:613563	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia			317
HP:0000177	HP:0000204	Cleft upper lip	1	CC2D2A CL E G H	57545	29253	OMIM:612284	Meckel syndrome, type 6	HP:0040283 - Occasional	HP:0003577 - Congenital onset	247
HP:0000177	HP:0000288	Abnormality of the philtrum	1	CCBE1 CL E G H	147372	29426	OMIM:235510	Hennekam lymphangiectasia-lymphedema syndrome			147
HP:0000177	HP:0000288	Abnormality of the philtrum	1	CCBE1 CL E G H	147372	29426	ORPHA:2136	Hennekam syndrome			147
HP:0000177	HP:0000288	Abnormality of the philtrum	1	CCDC22 CL E G H	28952	28909	OMIM:300963	Ritscher-Schinzel syndrome 2			33
HP:0000177	HP:0000288	Abnormality of the philtrum	1	CCDC8 CL E G H	83987	25367	ORPHA:2616	3M syndrome			5
HP:0000177	HP:0000288	Abnormality of the philtrum	1	CCDC8 CL E G H	83987	25367	OMIM:614205	THREE M SYNDROME 3; 3M3			5
HP:0000177	HP:0000288	Abnormality of the philtrum	1	CCNK CL E G H	8812	1596	OMIM:618147	Intellectual developmental disorder with hypertelorism and distinctive facies			3
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	CCNQ CL E G H	92002	28434	ORPHA:140952	Syndactyly-telecanthus-anogenital and renal malformations syndrome			7
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	CCNQ CL E G H	92002	28434	OMIM:300707	Toe syndactyly, telecanthus, and anogenital and renal malformations			7
HP:0000177	HP:0000288	Abnormality of the philtrum	1	CD96 CL E G H	10225	16892	ORPHA:1308	C syndrome			83
HP:0000177	HP:0000288	Abnormality of the philtrum	1	CDC42 CL E G H	998	1736	ORPHA:487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome			6
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	CDC42 CL E G H	998	1736	ORPHA:487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome			6
HP:0000177	HP:0000288	Abnormality of the philtrum	1	CDC42 CL E G H	998	1736	OMIM:616737	Takenouchi-Kosaki syndrome			6
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	CDC42 CL E G H	998	1736	OMIM:616737	Takenouchi-Kosaki syndrome			6
HP:0000177	HP:0000288	Abnormality of the philtrum	1	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0000177	HP:0000288	Abnormality of the philtrum	1	CDC6 CL E G H	990	1744	OMIM:613805	Meier-Gorlin syndrome 5			31
HP:0000177	HP:0000204	Cleft upper lip	1	CDH1 CL E G H	999	1748	ORPHA:1997	Blepharo-cheilo-odontic syndrome			1003
HP:0000177	HP:0000204	Cleft upper lip	1	CDH1 CL E G H	999	1748	OMIM:119580	Blepharocheilodontic syndrome 1	.		1003
HP:0000177	HP:0000204	Cleft upper lip	1	CDH1 CL E G H	999	1748	OMIM:137215	Gastric cancer, hereditary diffuse	HP:0040283 - Occasional		1003
HP:0000177	HP:0000288	Abnormality of the philtrum	1	CDH11 CL E G H	1009	1750	ORPHA:1299	Branchioskeletogenital syndrome			2
HP:0000177	HP:0000288	Abnormality of the philtrum	1	CDH11 CL E G H	1009	1750	OMIM:211380	Elsahy-Waters syndrome			2
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	CDH11 CL E G H	1009	1750	OMIM:211380	Elsahy-Waters syndrome			2
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	CDH11 CL E G H	1009	1750	OMIM:619736	TEEBI HYPERTELORISM SYNDROME 2; TBHS2			2
HP:0000177	HP:0000288	Abnormality of the philtrum	1	CDH2 CL E G H	1000	1759	OMIM:618929	AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	CDH2 CL E G H	1000	1759	OMIM:618929	AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
HP:0000177	HP:0000288	Abnormality of the philtrum	1	CDK10 CL E G H	8558	1770	OMIM:617694	Al Kaissi syndrome			2
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	CDK10 CL E G H	8558	1770	OMIM:617694	Al Kaissi syndrome			2
HP:0000177	HP:0000288	Abnormality of the philtrum	1	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder			8
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder			8
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	CDK19 CL E G H	23097	19338	OMIM:618916	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 87; DEE87
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	CDK5RAP2 CL E G H	55755	18672	ORPHA:2512	Autosomal recessive primary microcephaly			181
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	CDK6 CL E G H	1021	1777	ORPHA:2512	Autosomal recessive primary microcephaly			6
HP:0000177	HP:0000288	Abnormality of the philtrum	1	CDKL5 CL E G H	6792	11411	ORPHA:505652	CDKL5-deficiency disorder			405
HP:0000177	HP:0000204	Cleft upper lip	1	CDON CL E G H	50937	17104	ORPHA:93925	Alobar holoprosencephaly			200
HP:0000177	HP:0000204	Cleft upper lip	1	CDON CL E G H	50937	17104	ORPHA:93924	Lobar holoprosencephaly			200
HP:0000177	HP:0000288	Abnormality of the philtrum	1	CDON CL E G H	50937	17104	ORPHA:280200	Microform holoprosencephaly			200
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	CDON CL E G H	50937	17104	ORPHA:280200	Microform holoprosencephaly			200
HP:0000177	HP:0000204	Cleft upper lip	1	CDON CL E G H	50937	17104	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			200
HP:0000177	HP:0000204	Cleft upper lip	1	CDON CL E G H	50937	17104	ORPHA:220386	Semilobar holoprosencephaly			200
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	CENPJ CL E G H	55835	17272	ORPHA:2512	Autosomal recessive primary microcephaly			161
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	CEP135 CL E G H	9662	29086	ORPHA:2512	Autosomal recessive primary microcephaly			38
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	CEP152 CL E G H	22995	29298	ORPHA:2512	Autosomal recessive primary microcephaly			146
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	CEP63 CL E G H	80254	25815	ORPHA:2512	Autosomal recessive primary microcephaly			31
HP:0000177	HP:0000288	Abnormality of the philtrum	1	CERT1 CL E G H	10087	2205	OMIM:616351	Mental retardation, autosomal dominant 34
HP:0000177	HP:0000288	Abnormality of the philtrum	1	CHAMP1 CL E G H	283489	20311	OMIM:616579	Mental retardation, autosomal dominant 40			16
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	CHAMP1 CL E G H	283489	20311	OMIM:616579	Mental retardation, autosomal dominant 40			16
HP:0000177	HP:0000288	Abnormality of the philtrum	1	CHD2 CL E G H	1106	1917	ORPHA:1942	Myoclonic-astatic epilepsy			227
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	CHD2 CL E G H	1106	1917	ORPHA:1942	Myoclonic-astatic epilepsy			227
HP:0000177	HP:0000288	Abnormality of the philtrum	1	CHD5 CL E G H	26038	16816	OMIM:619873
HP:0000177	HP:0000204	Cleft upper lip	1	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome	HP:0040282 - Frequent		515
HP:0000177	HP:0000204	Cleft upper lip	1	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome	.		515
HP:0000177	HP:0000288	Abnormality of the philtrum	1	CHD8 CL E G H	57680	20153	OMIM:615032	AUTISM, SUSCEPTIBILITY TO, 18; AUTS18			72
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	CHMP1A CL E G H	5119	8740	OMIM:614961	Pontocerebellar hypoplasia, type 8			19
HP:0000177	HP:0000288	Abnormality of the philtrum	1	CHRNG CL E G H	1146	1967	ORPHA:2990	Autosomal recessive multiple pterygium syndrome			68
HP:0000177	HP:0000288	Abnormality of the philtrum	1	CHRNG CL E G H	1146	1967	OMIM:265000	Multiple pterygium syndrome, escobar variant			68
HP:0000177	HP:0000288	Abnormality of the philtrum	1	CHST14 CL E G H	113189	24464	OMIM:601776	Ehlers-Danlos syndrome, musculocontractural type 1			27
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	CHST14 CL E G H	113189	24464	OMIM:601776	Ehlers-Danlos syndrome, musculocontractural type 1			27
HP:0000177	HP:0000288	Abnormality of the philtrum	1	CHST14 CL E G H	113189	24464	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome			27
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	CHST14 CL E G H	113189	24464	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome			27
HP:0000177	HP:0000288	Abnormality of the philtrum	1	CHST3 CL E G H	9469	1971	ORPHA:263463	CHST3-related skeletal dysplasia			165
HP:0000177	HP:0000288	Abnormality of the philtrum	1	CHST3 CL E G H	9469	1971	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects			165
HP:0000177	HP:0000288	Abnormality of the philtrum	1	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations			165
HP:0000177	HP:0000288	Abnormality of the philtrum	1	CHSY1 CL E G H	22856	17198	OMIM:605282	Temtamy preaxial brachydactyly syndrome			16
HP:0000177	HP:0000204	Cleft upper lip	1	CHUK CL E G H	1147	1974	OMIM:619339	BARTSOCAS-PAPAS SYNDROME 2; BPS2			3
HP:0000177	HP:0000204	Cleft upper lip	1	CILK1 CL E G H	22858	21219	OMIM:612651	ENDOCRINE-CEREBROOSTEODYSPLASIA	.
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	CILK1 CL E G H	22858	21219	OMIM:612651	ENDOCRINE-CEREBROOSTEODYSPLASIA
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	CIT CL E G H	11113	1985	ORPHA:2512	Autosomal recessive primary microcephaly			15
HP:0000177	HP:0000288	Abnormality of the philtrum	1	CKAP2L CL E G H	150468	26877	ORPHA:3255	Filippi syndrome			7
HP:0000177	HP:0000288	Abnormality of the philtrum	1	CKAP2L CL E G H	150468	26877	OMIM:272440	Filippi syndrome			7
HP:0000177	HP:0000288	Abnormality of the philtrum	1	CLCF1 CL E G H	23529	17412	ORPHA:1545	Crisponi syndrome			6
HP:0000177	HP:0000288	Abnormality of the philtrum	1	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA			2
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA			2
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	CLCN3 CL E G H	1182	2021	OMIM:619517	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ABNORMALITIES; NEDSBA			2
HP:0000177	HP:0000288	Abnormality of the philtrum	1	CLCN6 CL E G H	1185	2024	OMIM:619173	NEURODEGENERATION, CHILDHOOD-ONSET, WITH HYPOTONIA, RESPIRATORY INSUFFICIENCY, AND BRAIN IMAGING ABNORMALITIES; CONRIBA
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	CLCN6 CL E G H	1185	2024	OMIM:619173	NEURODEGENERATION, CHILDHOOD-ONSET, WITH HYPOTONIA, RESPIRATORY INSUFFICIENCY, AND BRAIN IMAGING ABNORMALITIES; CONRIBA
HP:0000177	HP:0000288	Abnormality of the philtrum	1	CLIC2 CL E G H	1193	2063	ORPHA:324410	X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome			4
HP:0000177	HP:0000288	Abnormality of the philtrum	1	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	CLP1 CL E G H	10978	16999	OMIM:615803	Pontocerebellar hypoplasia, type 10			7
HP:0000177	HP:0000288	Abnormality of the philtrum	1	CLTC CL E G H	1213	2092	OMIM:617854	Mental retardation, autosomal dominant 56			1
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	CLTC CL E G H	1213	2092	OMIM:617854	Mental retardation, autosomal dominant 56			1
HP:0000177	HP:0000288	Abnormality of the philtrum	1	CNOT1 CL E G H	23019	7877	OMIM:618500	Holoprosencephaly 12 with or without pancreatic agenesis			2
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	CNOT2 CL E G H	4848	7878	OMIM:618608	INTELLECTUAL DEVELOPMENTAL DISORDER WITH NASAL SPEECH, DYSMORPHIC FACIES, AND VARIABLE SKELETAL ANOMALIES; IDNADFS			2
HP:0000177	HP:0000288	Abnormality of the philtrum	1	CNOT3 CL E G H	4849	7879	OMIM:618672	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF
HP:0000177	HP:0000288	Abnormality of the philtrum	1	COG1 CL E G H	9382	6545	ORPHA:263508	COG1-CDG			52
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	COG1 CL E G H	9382	6545	ORPHA:263508	COG1-CDG			52
HP:0000177	HP:0000288	Abnormality of the philtrum	1	COG1 CL E G H	9382	6545	OMIM:611209	Congenital disorder of glycosylation, type IIg			52
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	COG1 CL E G H	9382	6545	OMIM:611209	Congenital disorder of glycosylation, type IIg			52
HP:0000177	HP:0000288	Abnormality of the philtrum	1	COG7 CL E G H	91949	18622	OMIM:608779	Congenital disorder of glycosylation, type IIe			64
HP:0000177	HP:0000288	Abnormality of the philtrum	1	COL11A1 CL E G H	1301	2186	OMIM:228520	Fibrochondrogenesis 1			215
HP:0000177	HP:0000288	Abnormality of the philtrum	1	COL11A1 CL E G H	1301	2186	ORPHA:560	Marshall syndrome			215
HP:0000177	HP:0000288	Abnormality of the philtrum	1	COL11A1 CL E G H	1301	2186	OMIM:154780	Marshall syndrome			215
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	COL11A1 CL E G H	1301	2186	ORPHA:560	Marshall syndrome			215
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	COL11A1 CL E G H	1301	2186	OMIM:154780	Marshall syndrome			215
HP:0000177	HP:0000288	Abnormality of the philtrum	1	COL11A2 CL E G H	1302	2187	ORPHA:166100	Autosomal dominant otospondylomegaepiphyseal dysplasia			222
HP:0000177	HP:0000288	Abnormality of the philtrum	1	COL2A1 CL E G H	1280	2200	OMIM:200610	Achondrogenesis, type II			284
HP:0000177	HP:0000288	Abnormality of the philtrum	1	COL2A1 CL E G H	1280	2200	ORPHA:166100	Autosomal dominant otospondylomegaepiphyseal dysplasia			284
HP:0000177	HP:0000288	Abnormality of the philtrum	1	COL2A1 CL E G H	1280	2200	ORPHA:90653	Stickler syndrome type 1			284
HP:0000177	HP:0000288	Abnormality of the philtrum	1	COL3A1 CL E G H	1281	2201	OMIM:618343	Polymicrogyria with or without vascular-type ehlers-danlos syndrome			749
HP:0000177	HP:0000204	Cleft upper lip	1	COLEC10 CL E G H	10584	2220	OMIM:248340	3MC syndrome 3			3
HP:0000177	HP:0000204	Cleft upper lip	1	COLEC11 CL E G H	78989	17213	OMIM:265050	3mc syndrome 2	.		9
HP:0000177	HP:0000288	Abnormality of the philtrum	1	COLEC11 CL E G H	78989	17213	OMIM:265050	3mc syndrome 2			9
HP:0000177	HP:0000288	Abnormality of the philtrum	1	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome			6
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	COPB2 CL E G H	9276	2232	ORPHA:2512	Autosomal recessive primary microcephaly
HP:0000177	HP:0000288	Abnormality of the philtrum	1	COX7B CL E G H	1349	2291	OMIM:300887	Linear skin defects with multiple congenital anomalies 2			6
HP:0000177	HP:0000204	Cleft upper lip	1	CPLANE1 CL E G H	65250	25801	OMIM:277170	Orofaciodigital syndrome VI	.
HP:0000177	HP:0000288	Abnormality of the philtrum	1	CPLX1 CL E G H	10815	2309	OMIM:617976	Epileptic encephalopathy, early infantile, 63			1
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	CPLX1 CL E G H	10815	2309	OMIM:617976	Epileptic encephalopathy, early infantile, 63			1
HP:0000177	HP:0000188	Short upper lip	1	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent		1
HP:0000177	HP:0000204	Cleft upper lip	1	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent		1
HP:0000177	HP:0000204	Cleft upper lip	1	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome	.		1
HP:0000177	HP:0000288	Abnormality of the philtrum	1	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent		1
HP:0000177	HP:0000288	Abnormality of the philtrum	1	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome			1
HP:0000177	HP:0000288	Abnormality of the philtrum	1	CREBBP CL E G H	1387	2348	OMIM:618332	MENKE-HENNEKAM SYNDROME 1; MKHK1			291
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	CREBBP CL E G H	1387	2348	OMIM:618332	MENKE-HENNEKAM SYNDROME 1; MKHK1			291
HP:0000177	HP:0000288	Abnormality of the philtrum	1	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1			291
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1			291
HP:0000177	HP:0000288	Abnormality of the philtrum	1	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome
HP:0000177	HP:0000288	Abnormality of the philtrum	1	CRLF1 CL E G H	9244	2364	ORPHA:1545	Crisponi syndrome			24
HP:0000177	HP:0000288	Abnormality of the philtrum	1	CRLF1 CL E G H	9244	2364	OMIM:272430	Crisponi/cold-induced sweating syndrome 1			24
HP:0000177	HP:0000288	Abnormality of the philtrum	1	CRTAP CL E G H	10491	2379	OMIM:610682	Osteogenesis imperfecta, type VII			124
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	CSF1R CL E G H	1436	2433	OMIM:618476	Brain abnormalities, neurodegeneration, and dysosteosclerosis			149
HP:0000177	HP:0000288	Abnormality of the philtrum	1	CSGALNACT1 CL E G H	55790	24290	OMIM:618870	SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE; SDJLABA
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	CSNK2A1 CL E G H	1457	2457	OMIM:617062	Okur-Chung neurodevelopmental syndrome			12
HP:0000177	HP:0000288	Abnormality of the philtrum	1	CSNK2B CL E G H	1460	2460	OMIM:618732	POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME; POBINDS			2
HP:0000177	HP:0000188	Short upper lip	1	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent		2
HP:0000177	HP:0000204	Cleft upper lip	1	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome	.		2
HP:0000177	HP:0000204	Cleft upper lip	1	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent		2
HP:0000177	HP:0000288	Abnormality of the philtrum	1	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0000177	HP:0000288	Abnormality of the philtrum	1	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent		2
HP:0000177	HP:0000288	Abnormality of the philtrum	1	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder			20
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder			20
HP:0000177	HP:0000288	Abnormality of the philtrum	1	CTCF CL E G H	10664	13723	OMIM:615502	Mental retardation, autosomal dominant 21			20
HP:0000177	HP:0000288	Abnormality of the philtrum	1	CTNNB1 CL E G H	1499	2514	OMIM:615075	Neurodevelopmental disorder with spastic diplegia and visual defects			88
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	CTNNB1 CL E G H	1499	2514	OMIM:615075	Neurodevelopmental disorder with spastic diplegia and visual defects			88
HP:0000177	HP:0000288	Abnormality of the philtrum	1	CTNNB1 CL E G H	1499	2514	ORPHA:404473	Severe intellectual disability-progressive spastic diplegia syndrome			88
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	CTNNB1 CL E G H	1499	2514	ORPHA:404473	Severe intellectual disability-progressive spastic diplegia syndrome			88
HP:0000177	HP:0000204	Cleft upper lip	1	CTNND1 CL E G H	1500	2515	ORPHA:1997	Blepharo-cheilo-odontic syndrome
HP:0000177	HP:0000288	Abnormality of the philtrum	1	CUL4B CL E G H	8450	2555	ORPHA:85293	X-linked intellectual disability, Cabezas type			38
HP:0000177	HP:0000288	Abnormality of the philtrum	1	CUL7 CL E G H	9820	21024	OMIM:273750	3-M syndrome 1			127
HP:0000177	HP:0000288	Abnormality of the philtrum	1	CUL7 CL E G H	9820	21024	ORPHA:2616	3M syndrome			127
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	CYFIP2 CL E G H	26999	13760	OMIM:618008	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65; EIEE65			1
HP:0000177	HP:0000204	Cleft upper lip	1	CYP26C1 CL E G H	340665	20577	ORPHA:398189	Focal facial dermal dysplasia type IV	HP:0040282 - Frequent		2
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	DCHS1 CL E G H	8642	13681	OMIM:601390	Van maldergem syndrome 1			27
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	DCPS CL E G H	28960	29812	OMIM:616459	Al-Raqad syndrome			5
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	DDB1 CL E G H	1642	2717	OMIM:619426	WHITE-KERNOHAN SYNDROME; WHIKERS
HP:0000177	HP:0000204	Cleft upper lip	1	DDX3X CL E G H	1654	2745	OMIM:300958	MENTAL RETARDATION, X-LINKED 102; MRX102			57
HP:0000177	HP:0000204	Cleft upper lip	1	DDX59 CL E G H	83479	25360	ORPHA:2919	Orofaciodigital syndrome type 5			2
HP:0000177	HP:0000288	Abnormality of the philtrum	1	DDX59 CL E G H	83479	25360	ORPHA:2919	Orofaciodigital syndrome type 5	HP:0040282 - Frequent		2
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	DDX59 CL E G H	83479	25360	ORPHA:2919	Orofaciodigital syndrome type 5			2
HP:0000177	HP:0000204	Cleft upper lip	1	DDX59 CL E G H	83479	25360	OMIM:174300	Orofaciodigital syndrome V			2
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	DDX59 CL E G H	83479	25360	OMIM:174300	Orofaciodigital syndrome V			2
HP:0000177	HP:0000288	Abnormality of the philtrum	1	DDX6 CL E G H	1656	2747	OMIM:618653	INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	DEAF1 CL E G H	10522	14677	OMIM:615828	Mental retardation, autosomal dominant 24			33
HP:0000177	HP:0000204	Cleft upper lip	1	DEAF1 CL E G H	10522	14677	ORPHA:819	Smith-Magenis syndrome	HP:0040283 - Occasional		33
HP:0000177	HP:0000288	Abnormality of the philtrum	1	DEAF1 CL E G H	10522	14677	ORPHA:819	Smith-Magenis syndrome			33
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	DEAF1 CL E G H	10522	14677	ORPHA:819	Smith-Magenis syndrome			33
HP:0000177	HP:0000288	Abnormality of the philtrum	1	DENND5A CL E G H	23258	19344	OMIM:617281	Epileptic encephalopathy, early infantile, 49			6
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	DENND5A CL E G H	23258	19344	OMIM:617281	Epileptic encephalopathy, early infantile, 49			6
HP:0000177	HP:0000288	Abnormality of the philtrum	1	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome			159
HP:0000177	HP:0000288	Abnormality of the philtrum	1	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome			159
HP:0000177	HP:0000204	Cleft upper lip	1	DHODH CL E G H	1723	2867	ORPHA:246	Postaxial acrofacial dysostosis			59
HP:0000177	HP:0000204	Cleft upper lip	1	DHODH CL E G H	1723	2867	OMIM:263750	Postaxial acrofacial dysostosis	.		59
HP:0000177	HP:0000288	Abnormality of the philtrum	1	DHPS CL E G H	1725	2869	OMIM:618480	Neurodevelopmental disorder with seizures and speech and walking impairment
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	DHPS CL E G H	1725	2869	OMIM:618480	Neurodevelopmental disorder with seizures and speech and walking impairment
HP:0000177	HP:0000288	Abnormality of the philtrum	1	DHX37 CL E G H	57647	17210	OMIM:618731	NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES; NEDBAVC			2
HP:0000177	HP:0000288	Abnormality of the philtrum	1	DIS3L2 CL E G H	129563	28648	ORPHA:2849	Perlman syndrome			164
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	DIS3L2 CL E G H	129563	28648	OMIM:267000	Perlman syndrome			164
HP:0000177	HP:0011341	Long upper lip	1	DIS3L2 CL E G H	129563	28648	OMIM:267000	Perlman syndrome	.		164
HP:0000177	HP:0000204	Cleft upper lip	1	DISP1 CL E G H	84976	19711	ORPHA:93925	Alobar holoprosencephaly			22
HP:0000177	HP:0000204	Cleft upper lip	1	DISP1 CL E G H	84976	19711	ORPHA:93924	Lobar holoprosencephaly			22
HP:0000177	HP:0000288	Abnormality of the philtrum	1	DISP1 CL E G H	84976	19711	ORPHA:280200	Microform holoprosencephaly			22
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	DISP1 CL E G H	84976	19711	ORPHA:280200	Microform holoprosencephaly			22
HP:0000177	HP:0000204	Cleft upper lip	1	DISP1 CL E G H	84976	19711	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			22
HP:0000177	HP:0000204	Cleft upper lip	1	DISP1 CL E G H	84976	19711	ORPHA:220386	Semilobar holoprosencephaly			22
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	DLK1 CL E G H	8788	2907	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion			1
HP:0000177	HP:0000288	Abnormality of the philtrum	1	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0000177	HP:0000288	Abnormality of the philtrum	1	DLK1 CL E G H	8788	2907	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14			1
HP:0000177	HP:0000288	Abnormality of the philtrum	1	DLK1 CL E G H	8788	2907	ORPHA:254531	Temple syndrome due to paternal 14q32.2 hypomethylation			1
HP:0000177	HP:0000204	Cleft upper lip	1	DLL1 CL E G H	28514	2908	ORPHA:93925	Alobar holoprosencephaly			3
HP:0000177	HP:0000204	Cleft upper lip	1	DLL1 CL E G H	28514	2908	ORPHA:93924	Lobar holoprosencephaly			3
HP:0000177	HP:0000288	Abnormality of the philtrum	1	DLL1 CL E G H	28514	2908	ORPHA:280200	Microform holoprosencephaly			3
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	DLL1 CL E G H	28514	2908	ORPHA:280200	Microform holoprosencephaly			3
HP:0000177	HP:0000204	Cleft upper lip	1	DLL1 CL E G H	28514	2908	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			3
HP:0000177	HP:0000204	Cleft upper lip	1	DLL1 CL E G H	28514	2908	ORPHA:220386	Semilobar holoprosencephaly			3
HP:0000177	HP:0000288	Abnormality of the philtrum	1	DLL3 CL E G H	10683	2909	ORPHA:2311	Autosomal recessive spondylocostal dysostosis			45
HP:0000177	HP:0000204	Cleft upper lip	1	DLX4 CL E G H	1748	2917	OMIM:616788	Orofacial cleft 15			1
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	DMPK CL E G H	1760	2933	ORPHA:589821	Congenital-onset Steinert myotonic dystrophy			152
HP:0000177	HP:0000288	Abnormality of the philtrum	1	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0000177	HP:0000288	Abnormality of the philtrum	1	DNMT3A CL E G H	1788	2978	ORPHA:404443	Tatton-Brown-Rahman syndrome			44
HP:0000177	HP:0000288	Abnormality of the philtrum	1	DNMT3A CL E G H	1788	2978	OMIM:615879	Tatton-Brown-Rahman syndrome			44
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	DNMT3A CL E G H	1788	2978	OMIM:615879	Tatton-Brown-Rahman syndrome			44
HP:0000177	HP:0000288	Abnormality of the philtrum	1	DOCK7 CL E G H	85440	19190	ORPHA:411986	Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome			11
HP:0000177	HP:0000288	Abnormality of the philtrum	1	DOCK7 CL E G H	85440	19190	OMIM:615859	Epileptic encephalopathy, early infantile, 23			11
HP:0000177	HP:0000288	Abnormality of the philtrum	1	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome
HP:0000177	HP:0000288	Abnormality of the philtrum	1	DPF2 CL E G H	5977	9964	OMIM:618027	Coffin-Siris syndrome 7
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	DPF2 CL E G H	5977	9964	OMIM:618027	Coffin-Siris syndrome 7
HP:0000177	HP:0000288	Abnormality of the philtrum	1	DPM1 CL E G H	8813	3005	OMIM:608799	Congenital disorder of glycosylation, type IE			27
HP:0000177	HP:0000288	Abnormality of the philtrum	1	DPM1 CL E G H	8813	3005	ORPHA:79322	DPM1-CDG			27
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	DPM1 CL E G H	8813	3005	ORPHA:79322	DPM1-CDG			27
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	DPM2 CL E G H	8818	3006	OMIM:615042	Congenital disorder of glycosylation, type Iu			26
HP:0000177	HP:0000288	Abnormality of the philtrum	1	DPM2 CL E G H	8818	3006	ORPHA:329178	Congenital muscular dystrophy with intellectual disability and severe epilepsy			26
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	DPM2 CL E G H	8818	3006	ORPHA:329178	Congenital muscular dystrophy with intellectual disability and severe epilepsy			26
HP:0000177	HP:0000288	Abnormality of the philtrum	1	DPYD CL E G H	1806	3012	ORPHA:1675	Dihydropyrimidine dehydrogenase deficiency			144
HP:0000177	HP:0000288	Abnormality of the philtrum	1	DPYSL5 CL E G H	56896	20637	OMIM:619435	RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0000177	HP:0000288	Abnormality of the philtrum	1	DSE CL E G H	29940	21144	OMIM:615539	Ehlers-Danlos syndrome, musculocontractural type, 2			13
HP:0000177	HP:0000288	Abnormality of the philtrum	1	DSE CL E G H	29940	21144	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome			13
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	DSE CL E G H	29940	21144	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome			13
HP:0000177	HP:0000204	Cleft upper lip	1	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome			14
HP:0000177	HP:0000288	Abnormality of the philtrum	1	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome			14
HP:0000177	HP:0000288	Abnormality of the philtrum	1	DVL1 CL E G H	1855	3084	OMIM:180700	Robinow syndrome, autosomal dominant 1			14
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	DVL1 CL E G H	1855	3084	OMIM:180700	Robinow syndrome, autosomal dominant 1			14
HP:0000177	HP:0000288	Abnormality of the philtrum	1	DVL1 CL E G H	1855	3084	OMIM:616331	Robinow syndrome, autosomal dominant 2			14
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	DVL1 CL E G H	1855	3084	OMIM:616331	Robinow syndrome, autosomal dominant 2			14
HP:0000177	HP:0000204	Cleft upper lip	1	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome			5
HP:0000177	HP:0000288	Abnormality of the philtrum	1	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome			5
HP:0000177	HP:0000288	Abnormality of the philtrum	1	DVL3 CL E G H	1857	3087	OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3			5
HP:0000177	HP:0000204	Cleft upper lip	1	DYNC2H1 CL E G H	79659	2962	OMIM:613091	Asphyxiating thoracic dystrophy 3	HP:0040283 - Occasional		304
HP:0000177	HP:0000204	Cleft upper lip	1	DYNC2H1 CL E G H	79659	2962	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040282 - Frequent		304
HP:0000177	HP:0000288	Abnormality of the philtrum	1	DYNC2H1 CL E G H	79659	2962	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type			304
HP:0000177	HP:0000204	Cleft upper lip	1	DYNC2I1 CL E G H	55112	21862	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040282 - Frequent
HP:0000177	HP:0000288	Abnormality of the philtrum	1	DYNC2I1 CL E G H	55112	21862	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0000177	HP:0000204	Cleft upper lip	1	DYNC2I2 CL E G H	89891	28296	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040282 - Frequent
HP:0000177	HP:0000288	Abnormality of the philtrum	1	DYNC2I2 CL E G H	89891	28296	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0000177	HP:0000204	Cleft upper lip	1	DYNC2LI1 CL E G H	51626	24595	OMIM:617088	Short-rib thoracic dysplasia 15 with polydactyly			7
HP:0000177	HP:0000288	Abnormality of the philtrum	1	DYRK1A CL E G H	1859	3091	OMIM:614104	Mental retardation, autosomal dominant 7			134
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	DYRK1A CL E G H	1859	3091	OMIM:614104	Mental retardation, autosomal dominant 7			134
HP:0000177	HP:0000288	Abnormality of the philtrum	1	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS			25
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS			25
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	EDA CL E G H	1896	3157	OMIM:305100	Ectodermal dysplasia 1, hypohidrotic, X-linked			115
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	EDA CL E G H	1896	3157	ORPHA:181	X-linked hypohidrotic ectodermal dysplasia			115
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	EDA2R CL E G H	60401	17756	ORPHA:181	X-linked hypohidrotic ectodermal dysplasia			11
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	EDAR CL E G H	10913	2895	OMIM:224900	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive			86
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	EDARADD CL E G H	128178	14341	OMIM:224900	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive			56
HP:0000177	HP:0000288	Abnormality of the philtrum	1	EDEM3 CL E G H	80267	16787	OMIM:619493	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v; CDG2V
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	EDEM3 CL E G H	80267	16787	OMIM:619493	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v; CDG2V
HP:0000177	HP:0000288	Abnormality of the philtrum	1	EED CL E G H	8726	3188	ORPHA:3447	Weaver syndrome			4
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	EEF1A2 CL E G H	1917	3192	OMIM:616393	Mental retardation, autosomal dominant 38			60
HP:0000177	HP:0000204	Cleft upper lip	1	EFNB1 CL E G H	1947	3226	OMIM:304110	Craniofrontonasal syndrome	.		27
HP:0000177	HP:0000288	Abnormality of the philtrum	1	EFTUD2 CL E G H	9343	30858	OMIM:610536	Mandibulofacial dysostosis, Guion-Almeida type			48
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	EHMT1 CL E G H	79813	24650	OMIM:610253	Kleefstra syndrome			223
HP:0000177	HP:0000288	Abnormality of the philtrum	1	EIF2S3 CL E G H	1968	3267	OMIM:300148	Mehmo syndrome			8
HP:0000177	HP:0000288	Abnormality of the philtrum	1	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	EIF5A CL E G H	1984	3300	OMIM:619376	FAUNDES-BANKA SYNDROME; FABAS
HP:0000177	HP:0000288	Abnormality of the philtrum	1	ELN CL E G H	2006	3327	OMIM:123700	Cutis laxa, autosomal dominant 1			172
HP:0000177	HP:0000288	Abnormality of the philtrum	1	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome			172
HP:0000177	HP:0000288	Abnormality of the philtrum	1	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome			172
HP:0000177	HP:0000188	Short upper lip	1	EMC1 CL E G H	23065	28957	OMIM:616875	Cerebellar atrophy, visual impairment, and psychomotor retardation			5
HP:0000177	HP:0000288	Abnormality of the philtrum	1	EMC1 CL E G H	23065	28957	OMIM:616875	Cerebellar atrophy, visual impairment, and psychomotor retardation			5
HP:0000177	HP:0000288	Abnormality of the philtrum	1	EMC1 CL E G H	23065	28957	ORPHA:480898	Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome			5
HP:0000177	HP:0000288	Abnormality of the philtrum	1	EP300 CL E G H	2033	3373	OMIM:618333	MENKE-HENNEKAM SYNDROME 2; MKHK2			250
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	EP300 CL E G H	2033	3373	OMIM:618333	MENKE-HENNEKAM SYNDROME 2; MKHK2			250
HP:0000177	HP:0000288	Abnormality of the philtrum	1	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1			250
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1			250
HP:0000177	HP:0000288	Abnormality of the philtrum	1	EPB41L1 CL E G H	2036	3378	OMIM:614257	MENTAL RETARDATION, AUTOSOMAL DOMINANT 11; MRD11			29
HP:0000177	HP:0000204	Cleft upper lip	1	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome	.		40
HP:0000177	HP:0000288	Abnormality of the philtrum	1	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome			40
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome			40
HP:0000177	HP:0000288	Abnormality of the philtrum	1	ERCC1 CL E G H	2067	3433	OMIM:610758	Cerebrooculofacioskeletal syndrome 4			20
HP:0000177	HP:0000288	Abnormality of the philtrum	1	ERCC6 CL E G H	2074	3438	OMIM:214150	Cerebrooculofacioskeletal syndrome 1			199
HP:0000177	HP:0000288	Abnormality of the philtrum	1	ERLIN2 CL E G H	11160	1356	ORPHA:209951	Autosomal recessive spastic paraplegia type 18			18
HP:0000177	HP:0000288	Abnormality of the philtrum	1	ERLIN2 CL E G H	11160	1356	ORPHA:280384	Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome			18
HP:0000177	HP:0000288	Abnormality of the philtrum	1	ERMARD CL E G H	55780	21056	ORPHA:75857	6q terminal deletion syndrome			36
HP:0000177	HP:0000204	Cleft upper lip	1	ESCO2 CL E G H	157570	27230	OMIM:216100	Cleft lip/palate with abnormal thumbs and microcephaly	.		92
HP:0000177	HP:0000204	Cleft upper lip	1	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome	.		92
HP:0000177	HP:0000204	Cleft upper lip	1	ESCO2 CL E G H	157570	27230	ORPHA:3103	Roberts syndrome	HP:0040282 - Frequent		92
HP:0000177	HP:0000204	Cleft upper lip	1	EVC CL E G H	2121	3497	OMIM:225500	Ellis-Van creveld syndrome	.		209
HP:0000177	HP:0000204	Cleft upper lip	1	EVC2 CL E G H	132884	19747	OMIM:225500	Ellis-Van creveld syndrome	.		137
HP:0000177	HP:0000288	Abnormality of the philtrum	1	EXOC2 CL E G H	55770	24968	OMIM:619306	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA; NEDFACH			1
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	EXOC2 CL E G H	55770	24968	OMIM:619306	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA; NEDFACH			1
HP:0000177	HP:0011341	Long upper lip	1	EXOC6B CL E G H	23233	17085	ORPHA:93359	Spondyloepimetaphyseal dysplasia with joint laxity	HP:0040283 - Occasional		3
HP:0000177	HP:0000288	Abnormality of the philtrum	1	EXOC7 CL E G H	23265	23214	OMIM:619072	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ATROPHY; NEDSEBA
HP:0000177	HP:0000288	Abnormality of the philtrum	1	EXOSC1 CL E G H	51013	17286	OMIM:619304	PONTOCEREBELLAR HYPOPLASIA, TYPE 1F; PCH1F
HP:0000177	HP:0000288	Abnormality of the philtrum	1	EXOSC2 CL E G H	23404	17097	OMIM:617763	Short stature, hearing loss, retinitis pigmentosa, and distinctive facies
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	EXOSC2 CL E G H	23404	17097	OMIM:617763	Short stature, hearing loss, retinitis pigmentosa, and distinctive facies
HP:0000177	HP:0000288	Abnormality of the philtrum	1	EXT1 CL E G H	2131	3512	ORPHA:502	Trichorhinophalangeal syndrome type 2			96
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	EXT1 CL E G H	2131	3512	ORPHA:502	Trichorhinophalangeal syndrome type 2			96
HP:0000177	HP:0000288	Abnormality of the philtrum	1	EXT2 CL E G H	2132	3513	ORPHA:52022	Potocki-Shaffer syndrome			102
HP:0000177	HP:0000288	Abnormality of the philtrum	1	EXT2 CL E G H	2132	3513	OMIM:616682	Seizures, scoliosis, and macrocephaly/microcephaly syndrome			102
HP:0000177	HP:0000288	Abnormality of the philtrum	1	EXT2 CL E G H	2132	3513	ORPHA:466926	Seizures-scoliosis-macrocephaly syndrome			102
HP:0000177	HP:0000288	Abnormality of the philtrum	1	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome			3
HP:0000177	HP:0000288	Abnormality of the philtrum	1	EZH2 CL E G H	2146	3527	ORPHA:3447	Weaver syndrome			81
HP:0000177	HP:0000288	Abnormality of the philtrum	1	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome			81
HP:0000177	HP:0000204	Cleft upper lip	1	FAM20C CL E G H	56975	22140	ORPHA:1832	Lethal osteosclerotic bone dysplasia			35
HP:0000177	HP:0000288	Abnormality of the philtrum	1	FAR1 CL E G H	84188	26222	ORPHA:438178	Fatty acyl-CoA reductase 1 deficiency			7
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	FAR1 CL E G H	84188	26222	ORPHA:438178	Fatty acyl-CoA reductase 1 deficiency			7
HP:0000177	HP:0000288	Abnormality of the philtrum	1	FAR1 CL E G H	84188	26222	OMIM:616154	PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER; PFCRD			7
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	FAR1 CL E G H	84188	26222	OMIM:616154	PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER; PFCRD			7
HP:0000177	HP:0000288	Abnormality of the philtrum	1	FAT4 CL E G H	79633	23109	ORPHA:2136	Hennekam syndrome			114
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	FAT4 CL E G H	79633	23109	OMIM:615546	Van maldergem syndrome 2			114
HP:0000177	HP:0000288	Abnormality of the philtrum	1	FBN1 CL E G H	2200	3603	OMIM:102370	Acromicric dysplasia			1361
HP:0000177	HP:0000288	Abnormality of the philtrum	1	FBN1 CL E G H	2200	3603	ORPHA:969	Acromicric dysplasia			1361
HP:0000177	HP:0000288	Abnormality of the philtrum	1	FBN1 CL E G H	2200	3603	OMIM:614185	GELEOPHYSIC DYSPLASIA 2; GPHYSD2			1361
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	FBN1 CL E G H	2200	3603	OMIM:614185	GELEOPHYSIC DYSPLASIA 2; GPHYSD2			1361
HP:0000177	HP:0000288	Abnormality of the philtrum	1	FBXO11 CL E G H	80204	13590	OMIM:618089	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities			7
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	FBXO28 CL E G H	23219	29046	OMIM:619777	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0000177	HP:0000204	Cleft upper lip	1	FGD1 CL E G H	2245	3663	OMIM:305400	Aarskog-Scott syndrome	.		62
HP:0000177	HP:0000204	Cleft upper lip	1	FGD1 CL E G H	2245	3663	ORPHA:915	Aarskog-Scott syndrome	HP:0040283 - Occasional		62
HP:0000177	HP:0000288	Abnormality of the philtrum	1	FGD1 CL E G H	2245	3663	OMIM:305400	Aarskog-Scott syndrome			62
HP:0000177	HP:0000288	Abnormality of the philtrum	1	FGD1 CL E G H	2245	3663	ORPHA:915	Aarskog-Scott syndrome			62
HP:0000177	HP:0000204	Cleft upper lip	1	FGF20 CL E G H	26281	3677	ORPHA:1848	Renal agenesis, bilateral			2
HP:0000177	HP:0000288	Abnormality of the philtrum	1	FGF3 CL E G H	2248	3681	ORPHA:2791	Otodental syndrome			18
HP:0000177	HP:0000204	Cleft upper lip	1	FGF8 CL E G H	2253	3686	ORPHA:93925	Alobar holoprosencephaly			17
HP:0000177	HP:0000204	Cleft upper lip	1	FGF8 CL E G H	2253	3686	ORPHA:93924	Lobar holoprosencephaly			17
HP:0000177	HP:0000288	Abnormality of the philtrum	1	FGF8 CL E G H	2253	3686	ORPHA:280200	Microform holoprosencephaly			17
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	FGF8 CL E G H	2253	3686	ORPHA:280200	Microform holoprosencephaly			17
HP:0000177	HP:0000204	Cleft upper lip	1	FGF8 CL E G H	2253	3686	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			17
HP:0000177	HP:0000204	Cleft upper lip	1	FGF8 CL E G H	2253	3686	ORPHA:220386	Semilobar holoprosencephaly			17
HP:0000177	HP:0000204	Cleft upper lip	1	FGFR1 CL E G H	2260	3688	OMIM:615465	Hartsfield syndrome	.		172
HP:0000177	HP:0000204	Cleft upper lip	1	FGFR1 CL E G H	2260	3688	ORPHA:2117	Hartsfield syndrome			172
HP:0000177	HP:0000204	Cleft upper lip	1	FGFR1 CL E G H	2260	3688	OMIM:147950	Hypogonadotropic hypogonadism 2 with or without anosmia	.		172
HP:0000177	HP:0000204	Cleft upper lip	1	FGFR1 CL E G H	2260	3688	ORPHA:93924	Lobar holoprosencephaly			172
HP:0000177	HP:0000288	Abnormality of the philtrum	1	FGFR1 CL E G H	2260	3688	ORPHA:280200	Microform holoprosencephaly			172
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	FGFR1 CL E G H	2260	3688	ORPHA:280200	Microform holoprosencephaly			172
HP:0000177	HP:0000288	Abnormality of the philtrum	1	FGFR1 CL E G H	2260	3688	OMIM:166250	Osteoglophonic dysplasia			172
HP:0000177	HP:0000204	Cleft upper lip	1	FGFR1 CL E G H	2260	3688	ORPHA:220386	Semilobar holoprosencephaly			172
HP:0000177	HP:0000288	Abnormality of the philtrum	1	FGFR1 CL E G H	2260	3688	OMIM:190440	Trigonocephaly 1			172
HP:0000177	HP:0000288	Abnormality of the philtrum	1	FGFR2 CL E G H	2263	3689	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis			175
HP:0000177	HP:0000188	Short upper lip	1	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent
HP:0000177	HP:0000204	Cleft upper lip	1	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome	.
HP:0000177	HP:0000288	Abnormality of the philtrum	1	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0000177	HP:0000188	Short upper lip	1	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome	HP:0040282 - Frequent		111
HP:0000177	HP:0000188	Short upper lip	1	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome	.		111
HP:0000177	HP:0000288	Abnormality of the philtrum	1	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome			111
HP:0000177	HP:0000288	Abnormality of the philtrum	1	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome			111
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome			111
HP:0000177	HP:0000288	Abnormality of the philtrum	1	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0000177	HP:0000204	Cleft upper lip	1	FKRP CL E G H	79147	17997	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.		157
HP:0000177	HP:0000204	Cleft upper lip	1	FKTN CL E G H	2218	3622	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.		184
HP:0000177	HP:0000288	Abnormality of the philtrum	1	FLCN CL E G H	201163	27310	OMIM:610883	Potocki-Lupski syndrome			332
HP:0000177	HP:0000288	Abnormality of the philtrum	1	FLI1 CL E G H	2313	3749	ORPHA:2308	Jacobsen syndrome			8
HP:0000177	HP:0000204	Cleft upper lip	1	FLII CL E G H	2314	3750	ORPHA:819	Smith-Magenis syndrome	HP:0040283 - Occasional
HP:0000177	HP:0000288	Abnormality of the philtrum	1	FLII CL E G H	2314	3750	ORPHA:819	Smith-Magenis syndrome
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	FLII CL E G H	2314	3750	ORPHA:819	Smith-Magenis syndrome
HP:0000177	HP:0000288	Abnormality of the philtrum	1	FLNA CL E G H	2316	3754	ORPHA:555877	FLNA-related X-linked myxomatous valvular dysplasia			493
HP:0000177	HP:0000288	Abnormality of the philtrum	1	FLNA CL E G H	2316	3754	OMIM:300048	Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked			493
HP:0000177	HP:0000204	Cleft upper lip	1	FLNB CL E G H	2317	3755	OMIM:150250	Larsen syndrome	.		233
HP:0000177	HP:0000204	Cleft upper lip	1	FOXA2 CL E G H	3170	5022	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms
HP:0000177	HP:0000204	Cleft upper lip	1	FOXC2 CL E G H	2303	3801	OMIM:153400	Lymphedema-Distichiasis syndrome			20
HP:0000177	HP:0000204	Cleft upper lip	1	FOXC2 CL E G H	2303	3801	ORPHA:33001	Lymphedema-distichiasis syndrome	HP:0040283 - Occasional		20
HP:0000177	HP:0000288	Abnormality of the philtrum	1	FOXG1 CL E G H	2290	3811	ORPHA:261144	FOXG1 syndrome due to 14q12 microdeletion			177
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	FOXG1 CL E G H	2290	3811	ORPHA:261144	FOXG1 syndrome due to 14q12 microdeletion			177
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	FOXG1 CL E G H	2290	3811	OMIM:613454	Rett syndrome, congenital variant			177
HP:0000177	HP:0000204	Cleft upper lip	1	FOXH1 CL E G H	8928	3814	ORPHA:93925	Alobar holoprosencephaly			48
HP:0000177	HP:0000204	Cleft upper lip	1	FOXH1 CL E G H	8928	3814	ORPHA:93924	Lobar holoprosencephaly			48
HP:0000177	HP:0000288	Abnormality of the philtrum	1	FOXH1 CL E G H	8928	3814	ORPHA:280200	Microform holoprosencephaly			48
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	FOXH1 CL E G H	8928	3814	ORPHA:280200	Microform holoprosencephaly			48
HP:0000177	HP:0000204	Cleft upper lip	1	FOXH1 CL E G H	8928	3814	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			48
HP:0000177	HP:0000204	Cleft upper lip	1	FOXH1 CL E G H	8928	3814	ORPHA:220386	Semilobar holoprosencephaly			48
HP:0000177	HP:0000288	Abnormality of the philtrum	1	FOXL2 CL E G H	668	1092	ORPHA:572333	Blepharophimosis-ptosis-epicanthus inversus syndrome plus			92
HP:0000177	HP:0000204	Cleft upper lip	1	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome	.		353
HP:0000177	HP:0000204	Cleft upper lip	1	FRAS1 CL E G H	80144	19185	ORPHA:2052	Fraser syndrome	HP:0040283 - Occasional		353
HP:0000177	HP:0000288	Abnormality of the philtrum	1	FREM1 CL E G H	158326	23399	OMIM:608980	Bifid nose with or without anorectal and renal anomalies			198
HP:0000177	HP:0000204	Cleft upper lip	1	FREM2 CL E G H	341640	25396	ORPHA:2052	Fraser syndrome	HP:0040283 - Occasional		263
HP:0000177	HP:0000288	Abnormality of the philtrum	1	FZD2 CL E G H	2535	4040	ORPHA:93328	Autosomal dominant omodysplasia
HP:0000177	HP:0000204	Cleft upper lip	1	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome
HP:0000177	HP:0000288	Abnormality of the philtrum	1	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome
HP:0000177	HP:0000288	Abnormality of the philtrum	1	FZD2 CL E G H	2535	4040	OMIM:164745	OMODYSPLASIA
HP:0000177	HP:0000288	Abnormality of the philtrum	1	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome			10
HP:0000177	HP:0000288	Abnormality of the philtrum	1	GAD1 CL E G H	2571	4092	OMIM:619124	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE89			44
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	GAD1 CL E G H	2571	4092	OMIM:619124	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE89			44
HP:0000177	HP:0000288	Abnormality of the philtrum	1	GALNT2 CL E G H	2590	4124	OMIM:618885	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	GALNT2 CL E G H	2590	4124	OMIM:618885	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T
HP:0000177	HP:0000204	Cleft upper lip	1	GAS1 CL E G H	2619	4165	ORPHA:93925	Alobar holoprosencephaly			2
HP:0000177	HP:0000204	Cleft upper lip	1	GAS1 CL E G H	2619	4165	ORPHA:93924	Lobar holoprosencephaly			2
HP:0000177	HP:0000288	Abnormality of the philtrum	1	GAS1 CL E G H	2619	4165	ORPHA:280200	Microform holoprosencephaly			2
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	GAS1 CL E G H	2619	4165	ORPHA:280200	Microform holoprosencephaly			2
HP:0000177	HP:0000204	Cleft upper lip	1	GAS1 CL E G H	2619	4165	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			2
HP:0000177	HP:0000204	Cleft upper lip	1	GAS1 CL E G H	2619	4165	ORPHA:220386	Semilobar holoprosencephaly			2
HP:0000177	HP:0000288	Abnormality of the philtrum	1	GATAD2B CL E G H	57459	30778	OMIM:615074	Mental retardation, autosomal dominant 18			33
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	GATAD2B CL E G H	57459	30778	OMIM:615074	Mental retardation, autosomal dominant 18			33
HP:0000177	HP:0000288	Abnormality of the philtrum	1	GATAD2B CL E G H	57459	30778	ORPHA:363686	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome			33
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	GATAD2B CL E G H	57459	30778	ORPHA:363686	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome			33
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	GBA1 CL E G H	2629	4177	OMIM:608013	Gaucher disease, perinatal lethal
HP:0000177	HP:0000204	Cleft upper lip	1	GDF11 CL E G H	10220	4216	OMIM:619122	VERTEBRAL HYPERSEGMENTATION AND OROFACIAL ANOMALIES; VHO
HP:0000177	HP:0000204	Cleft upper lip	1	GFRA1 CL E G H	2674	4243	ORPHA:1848	Renal agenesis, bilateral			1
HP:0000177	HP:0000204	Cleft upper lip	1	GJA1 CL E G H	2697	4274	OMIM:164200	Oculodentodigital dysplasia	.		68
HP:0000177	HP:0000204	Cleft upper lip	1	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia			68
HP:0000177	HP:0000288	Abnormality of the philtrum	1	GJA1 CL E G H	2697	4274	OMIM:257850	Oculodentodigital dysplasia, autosomal recessive			68
HP:0000177	HP:0000288	Abnormality of the philtrum	1	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			39
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			39
HP:0000177	HP:0000288	Abnormality of the philtrum	1	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			34
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			34
HP:0000177	HP:0000288	Abnormality of the philtrum	1	GLB1 CL E G H	2720	4298	ORPHA:79255	GM1 gangliosidosis type 1			120
HP:0000177	HP:0000204	Cleft upper lip	1	GLI2 CL E G H	2736	4318	ORPHA:93925	Alobar holoprosencephaly			173
HP:0000177	HP:0000204	Cleft upper lip	1	GLI2 CL E G H	2736	4318	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms			173
HP:0000177	HP:0000204	Cleft upper lip	1	GLI2 CL E G H	2736	4318	OMIM:615849	Culler-Jones syndrome	HP:0040283 - Occasional		173
HP:0000177	HP:0000204	Cleft upper lip	1	GLI2 CL E G H	2736	4318	OMIM:610829	Holoprosencephaly 9			173
HP:0000177	HP:0000288	Abnormality of the philtrum	1	GLI2 CL E G H	2736	4318	OMIM:610829	Holoprosencephaly 9			173
HP:0000177	HP:0000204	Cleft upper lip	1	GLI2 CL E G H	2736	4318	ORPHA:93924	Lobar holoprosencephaly			173
HP:0000177	HP:0000288	Abnormality of the philtrum	1	GLI2 CL E G H	2736	4318	ORPHA:280200	Microform holoprosencephaly			173
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	GLI2 CL E G H	2736	4318	ORPHA:280200	Microform holoprosencephaly			173
HP:0000177	HP:0000204	Cleft upper lip	1	GLI2 CL E G H	2736	4318	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			173
HP:0000177	HP:0000204	Cleft upper lip	1	GLI2 CL E G H	2736	4318	ORPHA:220386	Semilobar holoprosencephaly			173
HP:0000177	HP:0000204	Cleft upper lip	1	GLI3 CL E G H	2737	4319	OMIM:146510	Pallister-Hall syndrome	HP:0040283 - Occasional		270
HP:0000177	HP:0000288	Abnormality of the philtrum	1	GLIS3 CL E G H	169792	28510	OMIM:610199	Diabetes mellitus, neonatal, with congenital hypothyroidism			143
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	GLIS3 CL E G H	169792	28510	OMIM:610199	Diabetes mellitus, neonatal, with congenital hypothyroidism			143
HP:0000177	HP:0000288	Abnormality of the philtrum	1	GMPPA CL E G H	29926	22923	OMIM:615510	Alacrima, achalasia, and mental retardation syndrome			24
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	GNAI1 CL E G H	2770	4384	OMIM:619854
HP:0000177	HP:0000288	Abnormality of the philtrum	1	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42			12
HP:0000177	HP:0000288	Abnormality of the philtrum	1	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0000177	HP:0000288	Abnormality of the philtrum	1	GNE CL E G H	10020	23657	ORPHA:3166	Sialuria			173
HP:0000177	HP:0000288	Abnormality of the philtrum	1	GNE CL E G H	10020	23657	OMIM:269921	SIALURIA			173
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	GNE CL E G H	10020	23657	ORPHA:3166	Sialuria			173
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	GNE CL E G H	10020	23657	OMIM:269921	SIALURIA			173
HP:0000177	HP:0000288	Abnormality of the philtrum	1	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta			240
HP:0000177	HP:0000288	Abnormality of the philtrum	1	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome			8
HP:0000177	HP:0000204	Cleft upper lip	1	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040283 - Occasional		73
HP:0000177	HP:0000204	Cleft upper lip	1	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1			73
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	GPC4 CL E G H	2239	4452	OMIM:301026	Keipert syndrome
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	GPC4 CL E G H	2239	4452	ORPHA:2662	Keipert syndrome
HP:0000177	HP:0000204	Cleft upper lip	1	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040283 - Occasional
HP:0000177	HP:0000204	Cleft upper lip	1	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0000177	HP:0000288	Abnormality of the philtrum	1	GPC6 CL E G H	10082	4454	ORPHA:93329	Autosomal recessive omodysplasia			99
HP:0000177	HP:0000288	Abnormality of the philtrum	1	GPC6 CL E G H	10082	4454	OMIM:258315	Omodysplasia 1			99
HP:0000177	HP:0000204	Cleft upper lip	1	GREB1L CL E G H	80000	31042	ORPHA:1848	Renal agenesis, bilateral
HP:0000177	HP:0000204	Cleft upper lip	1	GRHL3 CL E G H	57822	25839	ORPHA:888	Van der Woude syndrome	HP:0040283 - Occasional		12
HP:0000177	HP:0000204	Cleft upper lip	1	GRHL3 CL E G H	57822	25839	OMIM:606713	Van der woude syndrome 2	.		12
HP:0000177	HP:0000188	Short upper lip	1	GRIA3 CL E G H	2892	4573	ORPHA:364028	X-linked intellectual disability due to GRIA3 mutations	HP:0040283 - Occasional		30
HP:0000177	HP:0000288	Abnormality of the philtrum	1	GRIA3 CL E G H	2892	4573	ORPHA:364028	X-linked intellectual disability due to GRIA3 mutations			30
HP:0000177	HP:0000204	Cleft upper lip	1	GRIP1 CL E G H	23426	18708	ORPHA:2052	Fraser syndrome	HP:0040283 - Occasional		80
HP:0000177	HP:0000288	Abnormality of the philtrum	1	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome			1
HP:0000177	HP:0000288	Abnormality of the philtrum	1	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome			1
HP:0000177	HP:0000288	Abnormality of the philtrum	1	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome			1
HP:0000177	HP:0000288	Abnormality of the philtrum	1	H3-3A CL E G H	3020	4764	OMIM:619720	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	H3-3A CL E G H	3020	4764	OMIM:619720	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0000177	HP:0000288	Abnormality of the philtrum	1	H3-3B CL E G H	3021	4765	OMIM:619721	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2; BRYLIB2
HP:0000177	HP:0000288	Abnormality of the philtrum	1	H4C11 CL E G H	8363	4785	OMIM:619759	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 2; TEVANED2
HP:0000177	HP:0000204	Cleft upper lip	1	H4C3 CL E G H	8364	4787	OMIM:619758	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1
HP:0000177	HP:0000288	Abnormality of the philtrum	1	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0000177	HP:0000288	Abnormality of the philtrum	1	H4C9 CL E G H	8294	4793	OMIM:619951
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	H4C9 CL E G H	8294	4793	OMIM:619951
HP:0000177	HP:0000288	Abnormality of the philtrum	1	HDAC6 CL E G H	10013	14064	ORPHA:163966	X-linked dominant chondrodysplasia, Chassaing-Lacombe type			2
HP:0000177	HP:0000288	Abnormality of the philtrum	1	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome			37
HP:0000177	HP:0000288	Abnormality of the philtrum	1	HDAC8 CL E G H	55869	13315	OMIM:300882	Cornelia de Lange syndrome 5			37
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	HDAC8 CL E G H	55869	13315	ORPHA:3459	Wilson-Turner syndrome			37
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome			38
HP:0000177	HP:0000288	Abnormality of the philtrum	1	HES7 CL E G H	84667	15977	ORPHA:2311	Autosomal recessive spondylocostal dysostosis			10
HP:0000177	HP:0000204	Cleft upper lip	1	HESX1 CL E G H	8820	4877	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms			21
HP:0000177	HP:0000288	Abnormality of the philtrum	1	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome			3
HP:0000177	HP:0000288	Abnormality of the philtrum	1	HIVEP2 CL E G H	3097	4921	OMIM:616977	Mental retardation, autosomal dominant 43			13
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	HIVEP2 CL E G H	3097	4921	OMIM:616977	Mental retardation, autosomal dominant 43			13
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	HK1 CL E G H	3098	4922	OMIM:618547	NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES; NEDVIBA			11
HP:0000177	HP:0000288	Abnormality of the philtrum	1	HNRNPH2 CL E G H	3188	5042	OMIM:300986	MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB			3
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	HNRNPK CL E G H	3190	5044	ORPHA:352665	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion			8
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	HNRNPK CL E G H	3190	5044	ORPHA:453504	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation			8
HP:0000177	HP:0000288	Abnormality of the philtrum	1	HNRNPU CL E G H	3192	5048	ORPHA:238769	1q44 microdeletion syndrome			39
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	HNRNPU CL E G H	3192	5048	ORPHA:238769	1q44 microdeletion syndrome			39
HP:0000177	HP:0000288	Abnormality of the philtrum	1	HOXB1 CL E G H	3211	5111	OMIM:614744	Facial paresis, hereditary congenital, 3			2
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	HOXB1 CL E G H	3211	5111	OMIM:614744	Facial paresis, hereditary congenital, 3			2
HP:0000177	HP:0000204	Cleft upper lip	1	HOXD13 CL E G H	3239	5136	ORPHA:887	VACTERL/VATER association			25
HP:0000177	HP:0000288	Abnormality of the philtrum	1	HPDL CL E G H	84842	28242	OMIM:619026	NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA
HP:0000177	HP:0000288	Abnormality of the philtrum	1	HRAS CL E G H	3265	5173	OMIM:137550	Melanocytic nevus syndrome, congenital			113
HP:0000177	HP:0000288	Abnormality of the philtrum	1	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0000177	HP:0000288	Abnormality of the philtrum	1	HSD17B4 CL E G H	3295	5213	OMIM:261515	D-bifunctional protein deficiency			98
HP:0000177	HP:0000288	Abnormality of the philtrum	1	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome			345
HP:0000177	HP:0000288	Abnormality of the philtrum	1	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome			345
HP:0000177	HP:0000288	Abnormality of the philtrum	1	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1			345
HP:0000177	HP:0000288	Abnormality of the philtrum	1	HUWE1 CL E G H	10075	30892	OMIM:309590	Mental retardation, x-linked syndromic, Turner type			98
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	HUWE1 CL E G H	10075	30892	OMIM:309590	Mental retardation, x-linked syndromic, Turner type			98
HP:0000177	HP:0000204	Cleft upper lip	1	HYLS1 CL E G H	219844	26558	ORPHA:2189	Hydrolethalus			31
HP:0000177	HP:0000204	Cleft upper lip	1	HYLS1 CL E G H	219844	26558	OMIM:236680	Hydrolethalus syndrome 1			31
HP:0000177	HP:0000288	Abnormality of the philtrum	1	IARS2 CL E G H	55699	29685	OMIM:616007	Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia			25
HP:0000177	HP:0000288	Abnormality of the philtrum	1	IDH1 CL E G H	3417	5382	ORPHA:99646	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria			15
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	IER3IP1 CL E G H	51124	18550	OMIM:614231	Microcephaly, epilepsy, and diabetes syndrome			6
HP:0000177	HP:0000288	Abnormality of the philtrum	1	IFIH1 CL E G H	64135	18873	OMIM:182250	Singleton-Merten syndrome 1			28
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	IFIH1 CL E G H	64135	18873	OMIM:182250	Singleton-Merten syndrome 1			28
HP:0000177	HP:0000288	Abnormality of the philtrum	1	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly			148
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	IFT43 CL E G H	112752	29669	OMIM:617866	SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY; SRTD18			11
HP:0000177	HP:0000288	Abnormality of the philtrum	1	IFT57 CL E G H	55081	17367	OMIM:617927	Orofaciodigital syndrome XVIII
HP:0000177	HP:0000204	Cleft upper lip	1	IFT80 CL E G H	57560	29262	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040282 - Frequent		65
HP:0000177	HP:0000288	Abnormality of the philtrum	1	IFT80 CL E G H	57560	29262	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type			65
HP:0000177	HP:0000288	Abnormality of the philtrum	1	IFT81 CL E G H	28981	14313	OMIM:617895	Short-Rib thoracic dysplasia 19 with or without polydactyly			2
HP:0000177	HP:0000288	Abnormality of the philtrum	1	IGF1R CL E G H	3480	5465	ORPHA:73273	Growth delay due to insulin-like growth factor I resistance			268
HP:0000177	HP:0000288	Abnormality of the philtrum	1	IGF1R CL E G H	3480	5465	OMIM:270450	Insulin-Like growth factor I, resistance to			268
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	IGF1R CL E G H	3480	5465	OMIM:270450	Insulin-Like growth factor I, resistance to			268
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	IL1RAPL1 CL E G H	11141	5996	OMIM:300143	Mental retardation, X-linked 21			42
HP:0000177	HP:0000288	Abnormality of the philtrum	1	IL6ST CL E G H	3572	6021	OMIM:619750	IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES; IMD94
HP:0000177	HP:0000288	Abnormality of the philtrum	1	INPPL1 CL E G H	3636	6080	OMIM:258480	OPSISMODYSPLASIA			18
HP:0000177	HP:0000288	Abnormality of the philtrum	1	INTS1 CL E G H	26173	24555	OMIM:618571	NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES; NDCAGF
HP:0000177	HP:0000204	Cleft upper lip	1	INTU CL E G H	27152	29239	OMIM:617926	OROFACIODIGITAL SYNDROME XVII; OFD17
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0000177	HP:0000204	Cleft upper lip	1	IQSEC2 CL E G H	23096	29059	ORPHA:819	Smith-Magenis syndrome	HP:0040283 - Occasional		119
HP:0000177	HP:0000288	Abnormality of the philtrum	1	IQSEC2 CL E G H	23096	29059	ORPHA:819	Smith-Magenis syndrome			119
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	IQSEC2 CL E G H	23096	29059	ORPHA:819	Smith-Magenis syndrome			119
HP:0000177	HP:0000288	Abnormality of the philtrum	1	IREB2 CL E G H	3658	6115	OMIM:618451	Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia
HP:0000177	HP:0000204	Cleft upper lip	1	IRF6 CL E G H	3664	6121	ORPHA:1300	Autosomal dominant popliteal pterygium syndrome			99
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	IRF6 CL E G H	3664	6121	ORPHA:1300	Autosomal dominant popliteal pterygium syndrome			99
HP:0000177	HP:0000204	Cleft upper lip	1	IRF6 CL E G H	3664	6121	ORPHA:199302	Isolated cleft lip			99
HP:0000177	HP:0000204	Cleft upper lip	1	IRF6 CL E G H	3664	6121	OMIM:608864	Orofacial cleft 6, susceptibility to	.		99
HP:0000177	HP:0000204	Cleft upper lip	1	IRF6 CL E G H	3664	6121	OMIM:119500	Popliteal pterygium syndrome	.		99
HP:0000177	HP:0000204	Cleft upper lip	1	IRF6 CL E G H	3664	6121	ORPHA:888	Van der Woude syndrome	HP:0040283 - Occasional		99
HP:0000177	HP:0000204	Cleft upper lip	1	IRF6 CL E G H	3664	6121	OMIM:119300	van der Woude syndrome 1	.		99
HP:0000177	HP:0000288	Abnormality of the philtrum	1	IRX5 CL E G H	10265	14361	OMIM:611174	Hamamy syndrome			4
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	IRX5 CL E G H	10265	14361	OMIM:611174	Hamamy syndrome			4
HP:0000177	HP:0000288	Abnormality of the philtrum	1	ITCH CL E G H	83737	13890	OMIM:613385	AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD			3
HP:0000177	HP:0000204	Cleft upper lip	1	ITGA8 CL E G H	8516	6144	ORPHA:1848	Renal agenesis, bilateral			4
HP:0000177	HP:0000288	Abnormality of the philtrum	1	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome			2
HP:0000177	HP:0000204	Cleft upper lip	1	JUP CL E G H	3728	6207	ORPHA:34217	Naxos disease	HP:0040282 - Frequent		222
HP:0000177	HP:0000204	Cleft upper lip	1	KANSL1 CL E G H	284058	24565	OMIM:610443	Koolen-De Vries syndrome	.		283
HP:0000177	HP:0000288	Abnormality of the philtrum	1	KARS1 CL E G H	3735	6215	OMIM:619147	LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS; LEPID
HP:0000177	HP:0000204	Cleft upper lip	1	KAT5 CL E G H	10524	5275	OMIM:619103	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB			1
HP:0000177	HP:0000288	Abnormality of the philtrum	1	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome			34
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome			34
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	KAT6A CL E G H	7994	13013	ORPHA:457193	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome			34
HP:0000177	HP:0000288	Abnormality of the philtrum	1	KAT6B CL E G H	23522	17582	ORPHA:85201	Genitopatellar syndrome			141
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	KATNB1 CL E G H	10300	6217	OMIM:616212	Lissencephaly 6, with microcephaly			10
HP:0000177	HP:0000288	Abnormality of the philtrum	1	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome			1
HP:0000177	HP:0000288	Abnormality of the philtrum	1	KCNH1 CL E G H	3756	6250	ORPHA:420561	Temple-Baraitser syndrome			13
HP:0000177	HP:0000288	Abnormality of the philtrum	1	KCNH1 CL E G H	3756	6250	OMIM:611816	Temple-Baraitser syndrome			13
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	KCNH1 CL E G H	3756	6250	ORPHA:420561	Temple-Baraitser syndrome			13
HP:0000177	HP:0000288	Abnormality of the philtrum	1	KCNH1 CL E G H	3756	6250	OMIM:135500	Zimmermann-Laband syndrome 1			13
HP:0000177	HP:0000288	Abnormality of the philtrum	1	KCNJ11 CL E G H	3767	6257	ORPHA:79134	DEND syndrome			127
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	KCNJ2 CL E G H	3759	6263	OMIM:170390	Andersen cardiodysrhythmic periodic paralysis			193
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	KCNJ2 CL E G H	3759	6263	ORPHA:37553	Andersen-Tawil syndrome			193
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	KCNJ5 CL E G H	3762	6266	ORPHA:37553	Andersen-Tawil syndrome			128
HP:0000177	HP:0000288	Abnormality of the philtrum	1	KCNJ6 CL E G H	3763	6267	OMIM:614098	Keppen-Lubinsky syndrome			3
HP:0000177	HP:0000288	Abnormality of the philtrum	1	KCNJ6 CL E G H	3763	6267	ORPHA:435628	Keppen-Lubinsky syndrome			3
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	KCNJ6 CL E G H	3763	6267	OMIM:614098	Keppen-Lubinsky syndrome			3
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	KCNJ6 CL E G H	3763	6267	ORPHA:435628	Keppen-Lubinsky syndrome			3
HP:0000177	HP:0000288	Abnormality of the philtrum	1	KCNJ8 CL E G H	3764	6269	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type			23
HP:0000177	HP:0000288	Abnormality of the philtrum	1	KCNK4 CL E G H	50801	6279	OMIM:618381	Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	KCNK4 CL E G H	50801	6279	OMIM:618381	Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome
HP:0000177	HP:0000288	Abnormality of the philtrum	1	KCNK9 CL E G H	51305	6283	OMIM:612292	BIRK-BAREL SYNDROME			4
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	KCNK9 CL E G H	51305	6283	OMIM:612292	BIRK-BAREL SYNDROME			4
HP:0000177	HP:0000288	Abnormality of the philtrum	1	KCNK9 CL E G H	51305	6283	ORPHA:166108	Intellectual disability, Birk-Barel type			4
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	KCNK9 CL E G H	51305	6283	ORPHA:166108	Intellectual disability, Birk-Barel type			4
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	KCNMA1 CL E G H	3778	6284	OMIM:618729	LIANG-WANG SYNDROME; LIWAS			114
HP:0000177	HP:0000288	Abnormality of the philtrum	1	KDF1 CL E G H	126695	26624	OMIM:617337	Ectodermal dysplasia 12, Hypohidrotic/hair/tooth/nail type			1
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	KDM1A CL E G H	23028	29079	OMIM:616728	Cleft palate, psychomotor retardation, and distinctive facial features			3
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	KDM1A CL E G H	23028	29079	ORPHA:477993	Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome			3
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	KDM3B CL E G H	51780	1337	OMIM:618846	DIETS-JONGMANS SYNDROME; DIJOS
HP:0000177	HP:0000288	Abnormality of the philtrum	1	KDM4B CL E G H	23030	29136	OMIM:619320	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	KDM4B CL E G H	23030	29136	OMIM:619320	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0000177	HP:0000288	Abnormality of the philtrum	1	KDM5B CL E G H	10765	18039	OMIM:618109	Mental retardation, autosomal recessive 65			2
HP:0000177	HP:0000288	Abnormality of the philtrum	1	KDM5C CL E G H	8242	11114	OMIM:300534	Mental retardation, X-linked, syndromic, Claes-Jensen type			81
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	KDM5C CL E G H	8242	11114	OMIM:300534	Mental retardation, X-linked, syndromic, Claes-Jensen type			81
HP:0000177	HP:0000288	Abnormality of the philtrum	1	KIAA0753 CL E G H	9851	29110	OMIM:619479	SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY; SRTD21			4
HP:0000177	HP:0000288	Abnormality of the philtrum	1	KIDINS220 CL E G H	57498	29508	OMIM:617296	SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY; SINO			4
HP:0000177	HP:0000288	Abnormality of the philtrum	1	KIF11 CL E G H	3832	6388	OMIM:152950	Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation			46
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	KIF11 CL E G H	3832	6388	OMIM:152950	Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation			46
HP:0000177	HP:0000288	Abnormality of the philtrum	1	KIF11 CL E G H	3832	6388	ORPHA:2526	Microcephaly-lymphedema-chorioretinopathy syndrome			46
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	KIF14 CL E G H	9928	19181	ORPHA:2512	Autosomal recessive primary microcephaly			9
HP:0000177	HP:0000288	Abnormality of the philtrum	1	KIF15 CL E G H	56992	17273	ORPHA:261323	21q22.11q22.12 microdeletion syndrome
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	KIF15 CL E G H	56992	17273	ORPHA:261323	21q22.11q22.12 microdeletion syndrome
HP:0000177	HP:0000204	Cleft upper lip	1	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome			167
HP:0000177	HP:0000288	Abnormality of the philtrum	1	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome			167
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome			167
HP:0000177	HP:0000204	Cleft upper lip	1	KIF7 CL E G H	374654	30497	ORPHA:2189	Hydrolethalus			167
HP:0000177	HP:0000288	Abnormality of the philtrum	1	KIFBP CL E G H	26128	23419	OMIM:609460	Goldberg-Shprintzen syndrome
HP:0000177	HP:0000288	Abnormality of the philtrum	1	KIT CL E G H	3815	6342	ORPHA:2884	Piebaldism			327
HP:0000177	HP:0000288	Abnormality of the philtrum	1	KLHL41 CL E G H	10324	16905	ORPHA:171433	Intermediate nemaline myopathy			13
HP:0000177	HP:0000288	Abnormality of the philtrum	1	KMT2A CL E G H	4297	7132	ORPHA:319182	Wiedemann-Steiner syndrome			91
HP:0000177	HP:0000288	Abnormality of the philtrum	1	KMT2A CL E G H	4297	7132	OMIM:605130	Wiedemann-Steiner syndrome			91
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	KMT2A CL E G H	4297	7132	ORPHA:319182	Wiedemann-Steiner syndrome			91
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	KMT2A CL E G H	4297	7132	OMIM:605130	Wiedemann-Steiner syndrome			91
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	KNL1 CL E G H	57082	24054	ORPHA:2512	Autosomal recessive primary microcephaly			112
HP:0000177	HP:0000288	Abnormality of the philtrum	1	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome			196
HP:0000177	HP:0000204	Cleft upper lip	1	LARGE1 CL E G H	9215	6511	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.		136
HP:0000177	HP:0000288	Abnormality of the philtrum	1	LARP7 CL E G H	51574	24912	OMIM:615071	Alazami syndrome			16
HP:0000177	HP:0000288	Abnormality of the philtrum	1	LARP7 CL E G H	51574	24912	ORPHA:319671	Alazami syndrome			16
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	LAS1L CL E G H	81887	25726	ORPHA:3459	Wilson-Turner syndrome			8
HP:0000177	HP:0000288	Abnormality of the philtrum	1	LEMD2 CL E G H	221496	21244	OMIM:619322	MARBACH-RUSTAD PROGEROID SYNDROME; MARUPS			1
HP:0000177	HP:0000188	Short upper lip	1	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent		2
HP:0000177	HP:0000204	Cleft upper lip	1	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome	.		2
HP:0000177	HP:0000204	Cleft upper lip	1	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent		2
HP:0000177	HP:0000288	Abnormality of the philtrum	1	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0000177	HP:0000288	Abnormality of the philtrum	1	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent		2
HP:0000177	HP:0000288	Abnormality of the philtrum	1	LFNG CL E G H	3955	6560	ORPHA:2311	Autosomal recessive spondylocostal dysostosis			13
HP:0000177	HP:0000204	Cleft upper lip	1	LHX4 CL E G H	89884	21734	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms			43
HP:0000177	HP:0000288	Abnormality of the philtrum	1	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	LMBRD1 CL E G H	55788	23038	OMIM:277380	Methylmalonic aciduria and homocystinuria, Cblf type			46
HP:0000177	HP:0000288	Abnormality of the philtrum	1	LMNB1 CL E G H	4001	6637	OMIM:619179	MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT; MCPH26			44
HP:0000177	HP:0000288	Abnormality of the philtrum	1	LMX1B CL E G H	4010	6654	ORPHA:495818	9q33.3q34.11 microdeletion syndrome			165
HP:0000177	HP:0000204	Cleft upper lip	1	LMX1B CL E G H	4010	6654	OMIM:161200	Nail-Patella syndrome	.		165
HP:0000177	HP:0000288	Abnormality of the philtrum	1	LRP4 CL E G H	4038	6696	ORPHA:3258	Cenani-Lenz syndrome			124
HP:0000177	HP:0000288	Abnormality of the philtrum	1	LRRC32 CL E G H	2615	4161	OMIM:619074	CLEFT PALATE, PROLIFERATIVE RETINOPATHY, AND DEVELOPMENTAL DELAY; CPPRDD
HP:0000177	HP:0000288	Abnormality of the philtrum	1	LTBP1 CL E G H	4052	6714	OMIM:619451	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE; ARCL2E
HP:0000177	HP:0000288	Abnormality of the philtrum	1	LTBP3 CL E G H	4054	6716	ORPHA:969	Acromicric dysplasia			12
HP:0000177	HP:0000288	Abnormality of the philtrum	1	LTBP3 CL E G H	4054	6716	OMIM:617809	Geleophysic dysplasia 3			12
HP:0000177	HP:0000288	Abnormality of the philtrum	1	LTBP4 CL E G H	8425	6717	OMIM:613177	Cutis laxa, autosomal recessive, type IC			92
HP:0000177	HP:0000288	Abnormality of the philtrum	1	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome
HP:0000177	HP:0000288	Abnormality of the philtrum	1	MAB21L1 CL E G H	4081	6757	OMIM:618479	Cerebellar, ocular, craniofacial, and genital syndrome
HP:0000177	HP:0000288	Abnormality of the philtrum	1	MAB21L2 CL E G H	10586	6758	OMIM:615877	Microphthalmia/coloboma and skeletal dysplasia syndrome			5
HP:0000177	HP:0000288	Abnormality of the philtrum	1	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH			5
HP:0000177	HP:0000288	Abnormality of the philtrum	1	MAF CL E G H	4094	6776	ORPHA:1272	Aymé-Gripp syndrome			21
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	MAF CL E G H	4094	6776	ORPHA:1272	Aymé-Gripp syndrome			21
HP:0000177	HP:0000288	Abnormality of the philtrum	1	MAF CL E G H	4094	6776	OMIM:601088	Ayme-Gripp syndrome			21
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	MAF CL E G H	4094	6776	OMIM:601088	Ayme-Gripp syndrome			21
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome			63
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome			63
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	MAGEL2 CL E G H	54551	6814	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1			63
HP:0000177	HP:0000288	Abnormality of the philtrum	1	MAGEL2 CL E G H	54551	6814	OMIM:615547	Schaaf-Yang syndrome	.		63
HP:0000177	HP:0000288	Abnormality of the philtrum	1	MAN1B1 CL E G H	11253	6823	ORPHA:397941	MAN1B1-CDG			93
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	MAN1B1 CL E G H	11253	6823	ORPHA:397941	MAN1B1-CDG			93
HP:0000177	HP:0000288	Abnormality of the philtrum	1	MAN1B1 CL E G H	11253	6823	OMIM:614202	Rafiq syndrome			93
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	MAN1B1 CL E G H	11253	6823	OMIM:614202	Rafiq syndrome			93
HP:0000177	HP:0000288	Abnormality of the philtrum	1	MAP1B CL E G H	4131	6836	OMIM:618918	PERIVENTRICULAR NODULAR HETEROTOPIA 9; PVNH9
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	MAP1B CL E G H	4131	6836	OMIM:618918	PERIVENTRICULAR NODULAR HETEROTOPIA 9; PVNH9
HP:0000177	HP:0000288	Abnormality of the philtrum	1	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome			134
HP:0000177	HP:0000288	Abnormality of the philtrum	1	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome			178
HP:0000177	HP:0000288	Abnormality of the philtrum	1	MAP3K7 CL E G H	6885	6859	OMIM:157800	Cardiospondylocarpofacial syndrome			11
HP:0000177	HP:0000288	Abnormality of the philtrum	1	MAP3K7 CL E G H	6885	6859	OMIM:617137	Frontometaphyseal dysplasia 2			11
HP:0000177	HP:0000288	Abnormality of the philtrum	1	MAPK1 CL E G H	5594	6871	ORPHA:261330	Distal 22q11.2 microdeletion syndrome			2
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	MAPK1 CL E G H	5594	6871	ORPHA:261330	Distal 22q11.2 microdeletion syndrome			2
HP:0000177	HP:0000288	Abnormality of the philtrum	1	MAPK1 CL E G H	5594	6871	OMIM:619087	NOONAN SYNDROME 13; NS13			2
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	MAPK1 CL E G H	5594	6871	OMIM:619087	NOONAN SYNDROME 13; NS13			2
HP:0000177	HP:0000288	Abnormality of the philtrum	1	MAPK8IP3 CL E G H	23162	6884	OMIM:618443	Neurodevelopmental disorder with or without variable brain abnormalities
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	MAPK8IP3 CL E G H	23162	6884	OMIM:618443	Neurodevelopmental disorder with or without variable brain abnormalities
HP:0000177	HP:0000288	Abnormality of the philtrum	1	MAPRE2 CL E G H	10982	6891	ORPHA:2505	Multiple benign circumferential skin creases on limbs			4
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	MAPRE2 CL E G H	10982	6891	OMIM:616734	Skin creases, congenital symmetric circumferential, 2			4
HP:0000177	HP:0000288	Abnormality of the philtrum	1	MARS2 CL E G H	92935	25133	OMIM:616430	Combined oxidative phosphorylation deficiency 25			25
HP:0000177	HP:0000204	Cleft upper lip	1	MASP1 CL E G H	5648	6901	OMIM:257920	3mc syndrome 1	.		21
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	MBD5 CL E G H	55777	20444	ORPHA:228402	2q23.1 microdeletion syndrome			252
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1			252
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	MCM7 CL E G H	4176	6950	ORPHA:2512	Autosomal recessive primary microcephaly
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	MCPH1 CL E G H	79648	6954	ORPHA:2512	Autosomal recessive primary microcephaly			155
HP:0000177	HP:0000288	Abnormality of the philtrum	1	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q			3
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q			3
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	MECP2 CL E G H	4204	6990	OMIM:300260	Mental retardation, x-linked syndromic, Lubs type			950
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	MECP2 CL E G H	4204	6990	ORPHA:1762	Proximal Xq28 duplication syndrome			950
HP:0000177	HP:0000288	Abnormality of the philtrum	1	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1			228
HP:0000177	HP:0000204	Cleft upper lip	1	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR			228
HP:0000177	HP:0000288	Abnormality of the philtrum	1	MED12 CL E G H	9968	11957	ORPHA:776	Lujan-Fryns syndrome			228
HP:0000177	HP:0000288	Abnormality of the philtrum	1	MED12 CL E G H	9968	11957	OMIM:309520	Lujan-Fryns syndrome			228
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	MED12 CL E G H	9968	11957	OMIM:309520	Lujan-Fryns syndrome			228
HP:0000177	HP:0000288	Abnormality of the philtrum	1	MED12 CL E G H	9968	11957	OMIM:300895	Ohdo syndrome, X-linked			228
HP:0000177	HP:0000204	Cleft upper lip	1	MED12 CL E G H	9968	11957	OMIM:305450	Opitz-Kaveggia syndrome	.		228
HP:0000177	HP:0000288	Abnormality of the philtrum	1	MED12 CL E G H	9968	11957	OMIM:305450	Opitz-Kaveggia syndrome			228
HP:0000177	HP:0000288	Abnormality of the philtrum	1	MED12L CL E G H	116931	16050	OMIM:618872	NIZON-ISIDOR SYNDROME; NIZIDS
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	MED12L CL E G H	116931	16050	OMIM:618872	NIZON-ISIDOR SYNDROME; NIZIDS
HP:0000177	HP:0000288	Abnormality of the philtrum	1	MED13 CL E G H	9969	22474	OMIM:618009	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 61; MRD61			4
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	MED13 CL E G H	9969	22474	OMIM:618009	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 61; MRD61			4
HP:0000177	HP:0000288	Abnormality of the philtrum	1	MED25 CL E G H	81857	28845	OMIM:616449	Basel-Vanagaite-Smirin-Yosef syndrome			43
HP:0000177	HP:0000288	Abnormality of the philtrum	1	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome			43
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	MED25 CL E G H	81857	28845	OMIM:616449	Basel-Vanagaite-Smirin-Yosef syndrome			43
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome			43
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	MED27 CL E G H	9442	2377	OMIM:619286	NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA; NEDSCAC
HP:0000177	HP:0000288	Abnormality of the philtrum	1	MEF2C CL E G H	4208	6996	ORPHA:228384	5q14.3 microdeletion syndrome			132
HP:0000177	HP:0000288	Abnormality of the philtrum	1	MEF2C CL E G H	4208	6996	OMIM:613443	Mental retardation, autosomal dominant 20			132
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	MEF2C CL E G H	4208	6996	OMIM:613443	Mental retardation, autosomal dominant 20			132
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	MEG3 CL E G H	55384	14575	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion			1
HP:0000177	HP:0000288	Abnormality of the philtrum	1	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0000177	HP:0000288	Abnormality of the philtrum	1	MEG3 CL E G H	55384	14575	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14			1
HP:0000177	HP:0000288	Abnormality of the philtrum	1	MEG3 CL E G H	55384	14575	ORPHA:254531	Temple syndrome due to paternal 14q32.2 hypomethylation			1
HP:0000177	HP:0000288	Abnormality of the philtrum	1	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2			13
HP:0000177	HP:0000288	Abnormality of the philtrum	1	MEIS2 CL E G H	4212	7001	ORPHA:261190	15q14 microdeletion syndrome			7
HP:0000177	HP:0000204	Cleft upper lip	1	MEIS2 CL E G H	4212	7001	OMIM:600987	Cleft palate, cardiac defects, and mental retardation	.		7
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	MEIS2 CL E G H	4212	7001	OMIM:600987	Cleft palate, cardiac defects, and mental retardation			7
HP:0000177	HP:0000204	Cleft upper lip	1	MEOX1 CL E G H	4222	7013	OMIM:214300	Klippel-Feil syndrome, autosomal recessive	.		5
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	MESD CL E G H	23184	13520	OMIM:618644	OSTEOGENESIS IMPERFECTA, TYPE XX; OI20
HP:0000177	HP:0000288	Abnormality of the philtrum	1	MESP2 CL E G H	145873	29659	ORPHA:2311	Autosomal recessive spondylocostal dysostosis			45
HP:0000177	HP:0000288	Abnormality of the philtrum	1	METTL23 CL E G H	124512	26988	OMIM:615942	Mental retardation, autosomal recessive 44			13
HP:0000177	HP:0000288	Abnormality of the philtrum	1	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome			1
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	METTL5 CL E G H	29081	25006	ORPHA:2512	Autosomal recessive primary microcephaly
HP:0000177	HP:0000288	Abnormality of the philtrum	1	METTL5 CL E G H	29081	25006	OMIM:618665	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 72; MRT72
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	METTL5 CL E G H	29081	25006	OMIM:618665	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 72; MRT72
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	MFSD2A CL E G H	84879	25897	ORPHA:2512	Autosomal recessive primary microcephaly			5
HP:0000177	HP:0000288	Abnormality of the philtrum	1	MGP CL E G H	4256	7060	OMIM:245150	Keutel syndrome			33
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	MICU1 CL E G H	10367	1530	OMIM:615673	Myopathy with extrapyramidal signs			14
HP:0000177	HP:0000288	Abnormality of the philtrum	1	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome			57
HP:0000177	HP:0000204	Cleft upper lip	1	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I	.		57
HP:0000177	HP:0000288	Abnormality of the philtrum	1	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I			57
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I			57
HP:0000177	HP:0000288	Abnormality of the philtrum	1	MID2 CL E G H	11043	7096	OMIM:300928	MENTAL RETARDATION, X-LINKED 101; MRX101			7
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	MINPP1 CL E G H	9562	7102	ORPHA:284339	Pontocerebellar hypoplasia type 7			3
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome			5
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0000177	HP:0000288	Abnormality of the philtrum	1	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1			127
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1			127
HP:0000177	HP:0000288	Abnormality of the philtrum	1	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome			1
HP:0000177	HP:0000288	Abnormality of the philtrum	1	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome			1
HP:0000177	HP:0000288	Abnormality of the philtrum	1	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC			101
HP:0000177	HP:0000288	Abnormality of the philtrum	1	MMACHC CL E G H	25974	24525	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type			101
HP:0000177	HP:0000288	Abnormality of the philtrum	1	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome
HP:0000177	HP:0000288	Abnormality of the philtrum	1	MOCS1 CL E G H	4337	7190	OMIM:252150	Molybdenum cofactor deficiency, complementation group A			96
HP:0000177	HP:0000288	Abnormality of the philtrum	1	MOCS2 CL E G H	4338	7193	OMIM:252160	Molybdenum cofactor deficiency, complementation group B			26
HP:0000177	HP:0000288	Abnormality of the philtrum	1	MPC1 CL E G H	51660	21606	OMIM:614741	Mitochondrial pyruvate carrier deficiency			6
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	MPC1 CL E G H	51660	21606	OMIM:614741	Mitochondrial pyruvate carrier deficiency			6
HP:0000177	HP:0000288	Abnormality of the philtrum	1	MRPS28 CL E G H	28957	14513	OMIM:618958	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 47; COXPD47
HP:0000177	HP:0000288	Abnormality of the philtrum	1	MSL3 CL E G H	10943	7370	OMIM:301032	BASILICATA-AKHTAR SYNDROME; MRXSBA
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	MSL3 CL E G H	10943	7370	OMIM:301032	BASILICATA-AKHTAR SYNDROME; MRXSBA
HP:0000177	HP:0000204	Cleft upper lip	1	MSX1 CL E G H	4487	7391	ORPHA:199302	Isolated cleft lip			12
HP:0000177	HP:0000204	Cleft upper lip	1	MSX1 CL E G H	4487	7391	OMIM:608874	OROFACIAL CLEFT 5; OFC5			12
HP:0000177	HP:0000204	Cleft upper lip	1	MSX2 CL E G H	4488	7392	OMIM:168500	Parietal foramina	.		45
HP:0000177	HP:0000288	Abnormality of the philtrum	1	MTOR CL E G H	2475	3942	ORPHA:457485	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome			68
HP:0000177	HP:0000288	Abnormality of the philtrum	1	MTOR CL E G H	2475	3942	OMIM:616638	Smith-Kingsmore syndrome			68
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	MTOR CL E G H	2475	3942	OMIM:616638	Smith-Kingsmore syndrome			68
HP:0000177	HP:0000288	Abnormality of the philtrum	1	MTX2 CL E G H	10651	7506	OMIM:619127	MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0000177	HP:0000288	Abnormality of the philtrum	1	MUSK CL E G H	4593	7525	OMIM:208150	Fetal akinesia deformation sequence			72
HP:0000177	HP:0000288	Abnormality of the philtrum	1	MYH3 CL E G H	4621	7573	OMIM:193700	Arthrogryposis, distal, type 2A			166
HP:0000177	HP:0000288	Abnormality of the philtrum	1	MYH3 CL E G H	4621	7573	ORPHA:2990	Autosomal recessive multiple pterygium syndrome			166
HP:0000177	HP:0000288	Abnormality of the philtrum	1	MYH3 CL E G H	4621	7573	ORPHA:2053	Freeman-Sheldon syndrome			166
HP:0000177	HP:0000288	Abnormality of the philtrum	1	MYH8 CL E G H	4626	7578	OMIM:158300	Arthrogryposis, distal, type 7			93
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	MYL2 CL E G H	4633	7583	OMIM:619424	MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY; MFM12			131
HP:0000177	HP:0000288	Abnormality of the philtrum	1	MYMK CL E G H	389827	33778	ORPHA:1358	Carey-Fineman-Ziter syndrome			5
HP:0000177	HP:0000288	Abnormality of the philtrum	1	MYMX CL E G H	101929726	52391	OMIM:619941
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	MYMX CL E G H	101929726	52391	OMIM:619941
HP:0000177	HP:0000288	Abnormality of the philtrum	1	MYMX CL E G H	101929726	52391	ORPHA:1358	Carey-Fineman-Ziter syndrome
HP:0000177	HP:0000288	Abnormality of the philtrum	1	MYO18B CL E G H	84700	18150	OMIM:616549	Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism			5
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	MYO18B CL E G H	84700	18150	OMIM:616549	Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism			5
HP:0000177	HP:0000288	Abnormality of the philtrum	1	MYOD1 CL E G H	4654	7611	OMIM:618975	MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES; MYODRIF
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	MYOD1 CL E G H	4654	7611	OMIM:618975	MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES; MYODRIF
HP:0000177	HP:0000204	Cleft upper lip	1	NAA10 CL E G H	8260	18704	OMIM:309800	Microphthalmia, syndromic 1	.		23
HP:0000177	HP:0000288	Abnormality of the philtrum	1	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome			23
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome			23
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	NAA10 CL E G H	8260	18704	ORPHA:276432	Ogden syndrome			23
HP:0000177	HP:0000288	Abnormality of the philtrum	1	NAA20 CL E G H	51126	15908	OMIM:619717	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73; MRT73
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	NAA20 CL E G H	51126	15908	OMIM:619717	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73; MRT73
HP:0000177	HP:0000288	Abnormality of the philtrum	1	NALCN CL E G H	259232	19082	OMIM:616266	Congenital contractures of the limbs and face, hypotonia, and developmental delay			48
HP:0000177	HP:0000288	Abnormality of the philtrum	1	NALCN CL E G H	259232	19082	ORPHA:2053	Freeman-Sheldon syndrome			48
HP:0000177	HP:0000288	Abnormality of the philtrum	1	NALCN CL E G H	259232	19082	OMIM:615419	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1			48
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	NALCN CL E G H	259232	19082	OMIM:615419	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1			48
HP:0000177	HP:0000288	Abnormality of the philtrum	1	NALCN CL E G H	259232	19082	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome			48
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	NALCN CL E G H	259232	19082	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome			48
HP:0000177	HP:0000288	Abnormality of the philtrum	1	NARS2 CL E G H	79731	26274	ORPHA:79134	DEND syndrome			34
HP:0000177	HP:0000288	Abnormality of the philtrum	1	NBAS CL E G H	51594	15625	OMIM:614800	Short stature, optic nerve atrophy, and pelger-huet anomaly			25
HP:0000177	HP:0000204	Cleft upper lip	1	NBN CL E G H	4683	7652	ORPHA:647	Nijmegen breakage syndrome			706
HP:0000177	HP:0000204	Cleft upper lip	1	NBN CL E G H	4683	7652	OMIM:251260	Nijmegen breakage syndrome	.		706
HP:0000177	HP:0000288	Abnormality of the philtrum	1	NBN CL E G H	4683	7652	ORPHA:647	Nijmegen breakage syndrome			706
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	NCAPD3 CL E G H	23310	28952	ORPHA:2512	Autosomal recessive primary microcephaly			1
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	NCAPG2 CL E G H	54892	21904	OMIM:618460	Khan-Khan-Katsanis syndrome			2
HP:0000177	HP:0000288	Abnormality of the philtrum	1	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome			13
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	NDN CL E G H	4692	7675	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
HP:0000177	HP:0000288	Abnormality of the philtrum	1	NEB CL E G H	4703	7720	ORPHA:171433	Intermediate nemaline myopathy			745
HP:0000177	HP:0000288	Abnormality of the philtrum	1	NEB CL E G H	4703	7720	OMIM:256030	Nemaline myopathy 2, autosomal recessive			745
HP:0000177	HP:0000204	Cleft upper lip	1	NECTIN1 CL E G H	5818	9706	ORPHA:3253	Cleft lip/palate-ectodermal dysplasia syndrome	HP:0040281 - Very frequent		4
HP:0000177	HP:0000204	Cleft upper lip	1	NECTIN1 CL E G H	5818	9706	OMIM:225060	Cleft lip/palate-ectodermal dysplasia syndrome	.		4
HP:0000177	HP:0000288	Abnormality of the philtrum	1	NECTIN1 CL E G H	5818	9706	OMIM:225060	Cleft lip/palate-ectodermal dysplasia syndrome	.		4
HP:0000177	HP:0000204	Cleft upper lip	1	NECTIN1 CL E G H	5818	9706	ORPHA:199302	Isolated cleft lip			4
HP:0000177	HP:0000204	Cleft upper lip	1	NEK1 CL E G H	4750	7744	ORPHA:2751	Orofaciodigital syndrome type 2			101
HP:0000177	HP:0000204	Cleft upper lip	1	NEK1 CL E G H	4750	7744	OMIM:263520	Short-Rib thoracic dysplasia 6 with or without polydactyly			101
HP:0000177	HP:0000288	Abnormality of the philtrum	1	NEK9 CL E G H	91754	18591	OMIM:617022	Lethal congenital contracture syndrome 10			9
HP:0000177	HP:0000204	Cleft upper lip	1	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent
HP:0000177	HP:0000288	Abnormality of the philtrum	1	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent
HP:0000177	HP:0000288	Abnormality of the philtrum	1	NEXMIF CL E G H	340533	29433	OMIM:300912	Mental retardation, X-linked 98			52
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	NEXMIF CL E G H	340533	29433	OMIM:300912	Mental retardation, X-linked 98			52
HP:0000177	HP:0000288	Abnormality of the philtrum	1	NEXMIF CL E G H	340533	29433	ORPHA:1942	Myoclonic-astatic epilepsy			52
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	NEXMIF CL E G H	340533	29433	ORPHA:1942	Myoclonic-astatic epilepsy			52
HP:0000177	HP:0000288	Abnormality of the philtrum	1	NEXMIF CL E G H	340533	29433	ORPHA:85277	X-linked intellectual disability, Cantagrel type			52
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	NEXMIF CL E G H	340533	29433	ORPHA:85277	X-linked intellectual disability, Cantagrel type			52
HP:0000177	HP:0000288	Abnormality of the philtrum	1	NF1 CL E G H	4763	7765	ORPHA:363700	Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion			1952
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	NFIA CL E G H	4774	7784	OMIM:613735	Brain malformations with or without urinary tract defects			12
HP:0000177	HP:0000288	Abnormality of the philtrum	1	NFIB CL E G H	4781	7785	OMIM:618286	Macrocephaly, acquired, with impaired intellectual development			1
HP:0000177	HP:0000288	Abnormality of the philtrum	1	NFIX CL E G H	4784	7788	ORPHA:447980	19p13.3 microduplication syndrome			40
HP:0000177	HP:0000288	Abnormality of the philtrum	1	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome			40
HP:0000177	HP:0000288	Abnormality of the philtrum	1	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome			494
HP:0000177	HP:0000204	Cleft upper lip	1	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1	.		494
HP:0000177	HP:0000288	Abnormality of the philtrum	1	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1			494
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1			494
HP:0000177	HP:0000288	Abnormality of the philtrum	1	NKAP CL E G H	79576	29873	OMIM:301039	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE; MRXSHD
HP:0000177	HP:0000288	Abnormality of the philtrum	1	NLRP1 CL E G H	22861	14374	OMIM:615225	Palmoplantar carcinoma, multiple self-healing			37
HP:0000177	HP:0000204	Cleft upper lip	1	NODAL CL E G H	4838	7865	ORPHA:93925	Alobar holoprosencephaly			45
HP:0000177	HP:0000204	Cleft upper lip	1	NODAL CL E G H	4838	7865	ORPHA:93924	Lobar holoprosencephaly			45
HP:0000177	HP:0000288	Abnormality of the philtrum	1	NODAL CL E G H	4838	7865	ORPHA:280200	Microform holoprosencephaly			45
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	NODAL CL E G H	4838	7865	ORPHA:280200	Microform holoprosencephaly			45
HP:0000177	HP:0000204	Cleft upper lip	1	NODAL CL E G H	4838	7865	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			45
HP:0000177	HP:0000204	Cleft upper lip	1	NODAL CL E G H	4838	7865	ORPHA:220386	Semilobar holoprosencephaly			45
HP:0000177	HP:0000288	Abnormality of the philtrum	1	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1			22
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1			22
HP:0000177	HP:0000288	Abnormality of the philtrum	1	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome			10
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome			10
HP:0000177	HP:0000288	Abnormality of the philtrum	1	NONO CL E G H	4841	7871	OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34			10
HP:0000177	HP:0000288	Abnormality of the philtrum	1	NOTCH2 CL E G H	4853	7882	OMIM:102500	Hajdu-Cheney syndrome			138
HP:0000177	HP:0000288	Abnormality of the philtrum	1	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome			138
HP:0000177	HP:0000288	Abnormality of the philtrum	1	NOTCH3 CL E G H	4854	7883	OMIM:130720	Lateral meningocele syndrome			144
HP:0000177	HP:0000288	Abnormality of the philtrum	1	NOTCH3 CL E G H	4854	7883	ORPHA:2789	Lateral meningocele syndrome			144
HP:0000177	HP:0000288	Abnormality of the philtrum	1	NOVA2 CL E G H	4858	7887	OMIM:618859	Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome			1
HP:0000177	HP:0000288	Abnormality of the philtrum	1	NRAS CL E G H	4893	7989	OMIM:137550	Melanocytic nevus syndrome, congenital			102
HP:0000177	HP:0000288	Abnormality of the philtrum	1	NRCAM CL E G H	4897	7994	OMIM:619833				2
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	NRCAM CL E G H	4897	7994	OMIM:619833				2
HP:0000177	HP:0000288	Abnormality of the philtrum	1	NSD1 CL E G H	64324	14234	ORPHA:3447	Weaver syndrome			544
HP:0000177	HP:0000288	Abnormality of the philtrum	1	NSD2 CL E G H	7468	12766	OMIM:619695	RAUCH-STEINDL SYNDROME; RAUST			118
HP:0000177	HP:0000188	Short upper lip	1	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent		118
HP:0000177	HP:0000204	Cleft upper lip	1	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome	.		118
HP:0000177	HP:0000204	Cleft upper lip	1	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent		118
HP:0000177	HP:0000288	Abnormality of the philtrum	1	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent		118
HP:0000177	HP:0000288	Abnormality of the philtrum	1	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome			118
HP:0000177	HP:0000204	Cleft upper lip	1	NSDHL CL E G H	50814	13398	OMIM:308050	Congenital hemidysplasia with ichthyosiform erythroderma and limb defects	.		34
HP:0000177	HP:0000288	Abnormality of the philtrum	1	NSRP1 CL E G H	84081	25305	OMIM:620001
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	NSRP1 CL E G H	84081	25305	OMIM:620001
HP:0000177	HP:0000288	Abnormality of the philtrum	1	NSUN2 CL E G H	54888	25994	OMIM:611091	Mental retardation, autosomal recessive 5			84
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	NSUN2 CL E G H	54888	25994	OMIM:611091	Mental retardation, autosomal recessive 5			84
HP:0000177	HP:0000204	Cleft upper lip	1	NUAK2 CL E G H	81788	29558	OMIM:619452	ANENCEPHALY 2; ANPH2
HP:0000177	HP:0000288	Abnormality of the philtrum	1	NUP107 CL E G H	57122	29914	OMIM:618348	Galloway-Mowat syndrome 7			5
HP:0000177	HP:0000288	Abnormality of the philtrum	1	NUP107 CL E G H	57122	29914	OMIM:616730	Nephrotic syndrome, type 11			5
HP:0000177	HP:0000288	Abnormality of the philtrum	1	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome			2
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome			2
HP:0000177	HP:0000288	Abnormality of the philtrum	1	NXN CL E G H	64359	18008	OMIM:618529	Robinow syndrome, autosomal recessive 2			2
HP:0000177	HP:0000288	Abnormality of the philtrum	1	OBSL1 CL E G H	23363	29092	OMIM:612921	3-M syndrome 2			143
HP:0000177	HP:0000288	Abnormality of the philtrum	1	OBSL1 CL E G H	23363	29092	ORPHA:2616	3M syndrome			143
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	OCA2 CL E G H	4948	8101	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1			121
HP:0000177	HP:0000288	Abnormality of the philtrum	1	OCLN CL E G H	100506658	8104	OMIM:251290	Band-Like calcification with simplified gyration and polymicrogyria			23
HP:0000177	HP:0000288	Abnormality of the philtrum	1	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe			88
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe			88
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	ODC1 CL E G H	4953	8109	OMIM:619075	BACHMANN-BUPP SYNDROME; BABS			1
HP:0000177	HP:0000288	Abnormality of the philtrum	1	OFD1 CL E G H	8481	2567	OMIM:300804	Joubert syndrome 10			201
HP:0000177	HP:0000204	Cleft upper lip	1	OFD1 CL E G H	8481	2567	OMIM:311200	Orofaciodigital syndrome I			201
HP:0000177	HP:0000204	Cleft upper lip	1	OFD1 CL E G H	8481	2567	ORPHA:2750	Orofaciodigital syndrome type 1			201
HP:0000177	HP:0000288	Abnormality of the philtrum	1	OFD1 CL E G H	8481	2567	OMIM:300209	Simpson-golabi-behmel syndrome, type 2			201
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	OFD1 CL E G H	8481	2567	OMIM:300209	Simpson-golabi-behmel syndrome, type 2			201
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	OGT CL E G H	8473	8127	OMIM:300997	Mental retardation, X-linked 106			4
HP:0000177	HP:0000288	Abnormality of the philtrum	1	OPHN1 CL E G H	4983	8148	OMIM:300486	Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance			55
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	OPHN1 CL E G H	4983	8148	OMIM:300486	Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance			55
HP:0000177	HP:0000288	Abnormality of the philtrum	1	ORC4 CL E G H	5000	8490	OMIM:613800	Meier-Gorlin syndrome 2			21
HP:0000177	HP:0000288	Abnormality of the philtrum	1	OSTM1 CL E G H	28962	21652	OMIM:259720	Osteopetrosis, autosomal recessive 5			73
HP:0000177	HP:0000288	Abnormality of the philtrum	1	OTUD6B CL E G H	51633	24281	ORPHA:505237	Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome			4
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	OTUD6B CL E G H	51633	24281	ORPHA:505237	Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome			4
HP:0000177	HP:0000288	Abnormality of the philtrum	1	OTUD6B CL E G H	51633	24281	OMIM:617452	Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies			4
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	OTUD6B CL E G H	51633	24281	OMIM:617452	Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies			4
HP:0000177	HP:0000204	Cleft upper lip	1	OTX2 CL E G H	5015	8522	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms			41
HP:0000177	HP:0000288	Abnormality of the philtrum	1	PACS1 CL E G H	55690	30032	ORPHA:329224	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome			24
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	PACS1 CL E G H	55690	30032	ORPHA:329224	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome			24
HP:0000177	HP:0000288	Abnormality of the philtrum	1	PACS1 CL E G H	55690	30032	OMIM:615009	Schuurs-Hoeijmakers syndrome			24
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	PACS1 CL E G H	55690	30032	OMIM:615009	Schuurs-Hoeijmakers syndrome			24
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	PACS2 CL E G H	23241	23794	OMIM:618067	Epileptic encephalopathy, early infantile, 66
HP:0000177	HP:0000288	Abnormality of the philtrum	1	PAH CL E G H	5053	8582	ORPHA:2209	Maternal phenylketonuria			641
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	PAK3 CL E G H	5063	8592	OMIM:300558	MENTAL RETARDATION, X-LINKED 30; MRX30			27
HP:0000177	HP:0000288	Abnormality of the philtrum	1	PAM16 CL E G H	51025	29679	OMIM:613320	Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type			1
HP:0000177	HP:0000288	Abnormality of the philtrum	1	PARS2 CL E G H	25973	30563	OMIM:618437	Epileptic encephalopathy, early infantile, 75			14
HP:0000177	HP:0000204	Cleft upper lip	1	PAX3 CL E G H	5077	8617	ORPHA:894	Waardenburg syndrome type 1	HP:0040283 - Occasional		59
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	PAX3 CL E G H	5077	8617	ORPHA:894	Waardenburg syndrome type 1			59
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	PAX3 CL E G H	5077	8617	ORPHA:896	Waardenburg syndrome type 3			59
HP:0000177	HP:0000288	Abnormality of the philtrum	1	PAX3 CL E G H	5077	8617	OMIM:193500	Waardenburg syndrome, type 1			59
HP:0000177	HP:0000288	Abnormality of the philtrum	1	PBX1 CL E G H	5087	8632	OMIM:617641	Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay			3
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	PBX1 CL E G H	5087	8632	OMIM:617641	Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay			3
HP:0000177	HP:0000288	Abnormality of the philtrum	1	PCDHGC4 CL E G H	56098	8717	OMIM:619880
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	PCGF2 CL E G H	7703	12929	OMIM:618371	Turnpenny-Fry syndrome
HP:0000177	HP:0000288	Abnormality of the philtrum	1	PCLO CL E G H	27445	13406	OMIM:608027	Pontocerebellar hypoplasia, type 3			6
HP:0000177	HP:0000288	Abnormality of the philtrum	1	PDCD6IP CL E G H	10015	8766	OMIM:620047
HP:0000177	HP:0000288	Abnormality of the philtrum	1	PDE4D CL E G H	5144	8783	ORPHA:439822	PDE4D haploinsufficiency syndrome			113
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	PDE4D CL E G H	5144	8783	ORPHA:439822	PDE4D haploinsufficiency syndrome			113
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	PDGFRB CL E G H	5159	8804	OMIM:616592	Kosaki overgrowth syndrome			28
HP:0000177	HP:0000288	Abnormality of the philtrum	1	PDHA1 CL E G H	5160	8806	OMIM:312170	Pyruvate dehydrogenase e1-alpha deficiency			88
HP:0000177	HP:0000288	Abnormality of the philtrum	1	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome
HP:0000177	HP:0000288	Abnormality of the philtrum	1	PEX26 CL E G H	55670	22965	OMIM:614872	Peroxisome biogenesis disorder 7A (zellweger)			106
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	PGAP2 CL E G H	27315	17893	OMIM:614207	Hyperphosphatasia with mental retardation syndrome 3			8
HP:0000177	HP:0000288	Abnormality of the philtrum	1	PGAP2 CL E G H	27315	17893	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			8
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	PGAP2 CL E G H	27315	17893	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			8
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	PGAP3 CL E G H	93210	23719	OMIM:615716	Hyperphosphatasia with mental retardation syndrome 4			20
HP:0000177	HP:0000288	Abnormality of the philtrum	1	PGAP3 CL E G H	93210	23719	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			20
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	PGAP3 CL E G H	93210	23719	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			20
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	PHC1 CL E G H	1911	3182	ORPHA:2512	Autosomal recessive primary microcephaly			16
HP:0000177	HP:0000288	Abnormality of the philtrum	1	PHF21A CL E G H	51317	24156	ORPHA:52022	Potocki-Shaffer syndrome			2
HP:0000177	HP:0000204	Cleft upper lip	1	PHF8 CL E G H	23133	20672	ORPHA:85287	X-linked intellectual disability, Siderius type	HP:0040281 - Very frequent		23
HP:0000177	HP:0000204	Cleft upper lip	1	PHGDH CL E G H	26227	8923	OMIM:256520	Neu-Laxova syndrome	.		37
HP:0000177	HP:0000288	Abnormality of the philtrum	1	PHIP CL E G H	55023	15673	OMIM:617991	Developmental delay, intellectual disability, obesity, and dysmorphic features			11
HP:0000177	HP:0000288	Abnormality of the philtrum	1	PHIP CL E G H	55023	15673	ORPHA:589905	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome			11
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	PIEZO2 CL E G H	63895	26270	OMIM:617146	Arthrogryposis, distal, with impaired proprioception and touch			77
HP:0000177	HP:0000288	Abnormality of the philtrum	1	PIEZO2 CL E G H	63895	26270	OMIM:248700	Marden-Walker syndrome			77
HP:0000177	HP:0000288	Abnormality of the philtrum	1	PIGB CL E G H	9488	8959	OMIM:618580	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80; DEE80
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	PIGB CL E G H	9488	8959	OMIM:618580	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80; DEE80
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	PIGG CL E G H	54872	25985	ORPHA:488635	Early-onset epilepsy-intellectual disability-brain anomalies syndrome			7
HP:0000177	HP:0000204	Cleft upper lip	1	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent		7
HP:0000177	HP:0000288	Abnormality of the philtrum	1	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent		7
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	PIGK CL E G H	10026	8965	OMIM:618879	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CEREBELLAR ATROPHY, WITH OR WITHOUT SEIZURES; NEDHCAS
HP:0000177	HP:0000288	Abnormality of the philtrum	1	PIGL CL E G H	9487	8966	ORPHA:3474	CHIME syndrome			36
HP:0000177	HP:0000288	Abnormality of the philtrum	1	PIGL CL E G H	9487	8966	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			36
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	PIGL CL E G H	9487	8966	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			36
HP:0000177	HP:0000288	Abnormality of the philtrum	1	PIGL CL E G H	9487	8966	OMIM:280000	Zunich neuroectodermal syndrome			36
HP:0000177	HP:0000204	Cleft upper lip	1	PIGN CL E G H	23556	8967	ORPHA:2059	Fryns syndrome			37
HP:0000177	HP:0000288	Abnormality of the philtrum	1	PIGN CL E G H	23556	8967	ORPHA:2059	Fryns syndrome			37
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	PIGN CL E G H	23556	8967	ORPHA:2059	Fryns syndrome			37
HP:0000177	HP:0000288	Abnormality of the philtrum	1	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome			37
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome			37
HP:0000177	HP:0000288	Abnormality of the philtrum	1	PIGN CL E G H	23556	8967	OMIM:614080	Multiple congenital anomalies-hypotonia-seizures syndrome 1			37
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	PIGO CL E G H	84720	23215	OMIM:614749	Hyperphosphatasia with mental retardation syndrome 2			84
HP:0000177	HP:0000288	Abnormality of the philtrum	1	PIGO CL E G H	84720	23215	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			84
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	PIGO CL E G H	84720	23215	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			84
HP:0000177	HP:0000288	Abnormality of the philtrum	1	PIGQ CL E G H	9091	14135	OMIM:618548	MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4; MCAHS4			3
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	PIGQ CL E G H	9091	14135	OMIM:618548	MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4; MCAHS4			3
HP:0000177	HP:0000288	Abnormality of the philtrum	1	PIGS CL E G H	94005	14937	OMIM:618143	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0000177	HP:0000288	Abnormality of the philtrum	1	PIGT CL E G H	51604	14938	ORPHA:369837	Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome			12
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	PIGT CL E G H	51604	14938	ORPHA:369837	Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome			12
HP:0000177	HP:0000288	Abnormality of the philtrum	1	PIGT CL E G H	51604	14938	OMIM:615398	Multiple congenital anomalies-hypotonia-seizures syndrome 3			12
HP:0000177	HP:0000288	Abnormality of the philtrum	1	PIGU CL E G H	128869	15791	OMIM:618590	NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS; NEDBSS
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	PIGU CL E G H	128869	15791	OMIM:618590	NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS; NEDBSS
HP:0000177	HP:0000204	Cleft upper lip	1	PIGV CL E G H	55650	26031	OMIM:239300	Hyperphosphatasia with mental retardation			57
HP:0000177	HP:0000288	Abnormality of the philtrum	1	PIGV CL E G H	55650	26031	OMIM:239300	Hyperphosphatasia with mental retardation			57
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	PIGV CL E G H	55650	26031	OMIM:239300	Hyperphosphatasia with mental retardation			57
HP:0000177	HP:0000288	Abnormality of the philtrum	1	PIGV CL E G H	55650	26031	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			57
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	PIGV CL E G H	55650	26031	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			57
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	PIGW CL E G H	284098	23213	OMIM:616025	Glycosylphosphatidylinositol biosynthesis defect 11			6
HP:0000177	HP:0000288	Abnormality of the philtrum	1	PIGW CL E G H	284098	23213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			6
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	PIGW CL E G H	284098	23213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			6
HP:0000177	HP:0000288	Abnormality of the philtrum	1	PIGY CL E G H	84992	28213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			2
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	PIGY CL E G H	84992	28213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			2
HP:0000177	HP:0000288	Abnormality of the philtrum	1	PIK3CA CL E G H	5290	8975	OMIM:602501	Megalencephaly-Capillary malformation-polymicrogyria syndrome			162
HP:0000177	HP:0000288	Abnormality of the philtrum	1	PITX2 CL E G H	5308	9005	OMIM:180500	Axenfeld-rieger syndrome, type 1			51
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	PITX2 CL E G H	5308	9005	OMIM:180500	Axenfeld-rieger syndrome, type 1			51
HP:0000177	HP:0000288	Abnormality of the philtrum	1	PKDCC CL E G H	91461	25123	OMIM:618821	RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES; RLSDF
HP:0000177	HP:0000288	Abnormality of the philtrum	1	PLAA CL E G H	9373	9043	OMIM:617527	Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies			3
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	PLAA CL E G H	9373	9043	OMIM:617527	Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies			3
HP:0000177	HP:0000288	Abnormality of the philtrum	1	PLAA CL E G H	9373	9043	ORPHA:521426	PLAA-associated neurodevelopmental disorder			3
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	PLAA CL E G H	9373	9043	ORPHA:521426	PLAA-associated neurodevelopmental disorder			3
HP:0000177	HP:0000204	Cleft upper lip	1	PLCH1 CL E G H	23007	29185	OMIM:619895
HP:0000177	HP:0000204	Cleft upper lip	1	PLCH1 CL E G H	23007	29185	ORPHA:93925	Alobar holoprosencephaly
HP:0000177	HP:0000288	Abnormality of the philtrum	1	PLPBP CL E G H	11212	9457	OMIM:617290	Epilepsy, early-onset, vitamin b6-dependent			6
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	PLPBP CL E G H	11212	9457	OMIM:617290	Epilepsy, early-onset, vitamin b6-dependent			6
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia			150
HP:0000177	HP:0000288	Abnormality of the philtrum	1	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG			150
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG			150
HP:0000177	HP:0000288	Abnormality of the philtrum	1	POC1A CL E G H	25886	24488	OMIM:614813	Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis			10
HP:0000177	HP:0000288	Abnormality of the philtrum	1	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome			35
HP:0000177	HP:0000288	Abnormality of the philtrum	1	POGZ CL E G H	23126	18801	ORPHA:468678	White-Sutton syndrome			35
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	POGZ CL E G H	23126	18801	ORPHA:468678	White-Sutton syndrome			35
HP:0000177	HP:0000204	Cleft upper lip	1	POLR1B CL E G H	84172	20454	ORPHA:861	Treacher-Collins syndrome	HP:0040283 - Occasional
HP:0000177	HP:0000204	Cleft upper lip	1	POLR1C CL E G H	9533	20194	ORPHA:861	Treacher-Collins syndrome	HP:0040283 - Occasional		38
HP:0000177	HP:0000204	Cleft upper lip	1	POLR1D CL E G H	51082	20422	ORPHA:861	Treacher-Collins syndrome	HP:0040283 - Occasional		31
HP:0000177	HP:0000288	Abnormality of the philtrum	1	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome			138
HP:0000177	HP:0000288	Abnormality of the philtrum	1	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome			138
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome			138
HP:0000177	HP:0000288	Abnormality of the philtrum	1	POLR3GL CL E G H	84265	28466	OMIM:619234	SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM
HP:0000177	HP:0000204	Cleft upper lip	1	POMT1 CL E G H	10585	9202	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.		213
HP:0000177	HP:0000204	Cleft upper lip	1	POMT2 CL E G H	29954	19743	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.		221
HP:0000177	HP:0000204	Cleft upper lip	1	POMT2 CL E G H	29954	19743	OMIM:613150	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2			221
HP:0000177	HP:0000288	Abnormality of the philtrum	1	POR CL E G H	5447	9208	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis			76
HP:0000177	HP:0000204	Cleft upper lip	1	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia	.		20
HP:0000177	HP:0000204	Cleft upper lip	1	POU1F1 CL E G H	5449	9210	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms			36
HP:0000177	HP:0000288	Abnormality of the philtrum	1	POU4F1 CL E G H	5457	9218	ORPHA:314647	Non-progressive cerebellar ataxia with intellectual disability
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	PPM1D CL E G H	8493	9277	OMIM:617450	Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold			22
HP:0000177	HP:0000288	Abnormality of the philtrum	1	PPP1CB CL E G H	5500	9282	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair			9
HP:0000177	HP:0000288	Abnormality of the philtrum	1	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2			9
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2			9
HP:0000177	HP:0000288	Abnormality of the philtrum	1	PPP1R12A CL E G H	4659	7618	OMIM:618820	GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS
HP:0000177	HP:0000288	Abnormality of the philtrum	1	PPP1R15B CL E G H	84919	14951	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome			2
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	PPP1R15B CL E G H	84919	14951	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome			2
HP:0000177	HP:0000288	Abnormality of the philtrum	1	PPP1R21 CL E G H	129285	30595	OMIM:619383	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	PPP1R21 CL E G H	129285	30595	OMIM:619383	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0000177	HP:0000288	Abnormality of the philtrum	1	PPP2CA CL E G H	5515	9299	OMIM:618354	Neurodevelopmental disorder and language delay with or without structural brain abnormalities			2
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	PPP2R1A CL E G H	5518	9302	OMIM:616362	Mental retardation, autosomal dominant 36			13
HP:0000177	HP:0000288	Abnormality of the philtrum	1	PPP2R3C CL E G H	55012	17485	OMIM:618419	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
HP:0000177	HP:0000288	Abnormality of the philtrum	1	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome			10
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome			10
HP:0000177	HP:0000288	Abnormality of the philtrum	1	PPP3CA CL E G H	5530	9314	OMIM:617711	Epileptic encephalopathy, infantile or early childhood, 1			2
HP:0000177	HP:0000288	Abnormality of the philtrum	1	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome			28
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome			28
HP:0000177	HP:0000288	Abnormality of the philtrum	1	PQBP1 CL E G H	10084	9330	ORPHA:93945	X-linked intellectual disability, Porteous type			28
HP:0000177	HP:0000288	Abnormality of the philtrum	1	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome			148
HP:0000177	HP:0000288	Abnormality of the philtrum	1	PRDX1 CL E G H	5052	9352	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	PREPL CL E G H	9581	30228	OMIM:616224	Myasthenic syndrome, congenital, 22			7
HP:0000177	HP:0000288	Abnormality of the philtrum	1	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0000177	HP:0000288	Abnormality of the philtrum	1	PRKACA CL E G H	5566	9380	OMIM:619142	CARDIOACROFACIAL DYSPLASIA 1; CAFD1			2
HP:0000177	HP:0000288	Abnormality of the philtrum	1	PRKACB CL E G H	5567	9381	OMIM:619143	CARDIOACROFACIAL DYSPLASIA 2; CAFD2			2
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	PRKACB CL E G H	5567	9381	OMIM:619143	CARDIOACROFACIAL DYSPLASIA 2; CAFD2			2
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	PRKAR1B CL E G H	5575	9390	OMIM:619680	MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME; MASNS			2
HP:0000177	HP:0000288	Abnormality of the philtrum	1	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome
HP:0000177	HP:0000288	Abnormality of the philtrum	1	PRKDC CL E G H	5591	9413	OMIM:615966	Immunodeficiency 26 with or without neurologic abnormalities			42
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	PRKDC CL E G H	5591	9413	OMIM:615966	Immunodeficiency 26 with or without neurologic abnormalities			42
HP:0000177	HP:0000288	Abnormality of the philtrum	1	PRMT7 CL E G H	54496	25557	OMIM:617157	Short stature, brachydactyly, intellectual developmental disability, and seizures			6
HP:0000177	HP:0000288	Abnormality of the philtrum	1	PRMT7 CL E G H	54496	25557	ORPHA:464288	Short stature-brachydactyly-obesity-global developmental delay syndrome			6
HP:0000177	HP:0000204	Cleft upper lip	1	PROKR2 CL E G H	128674	15836	OMIM:244200	Hypogonadotropic hypogonadism 3 with or without anosmia	.		34
HP:0000177	HP:0000204	Cleft upper lip	1	PROP1 CL E G H	5626	9455	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms			54
HP:0000177	HP:0000288	Abnormality of the philtrum	1	PSMC3 CL E G H	5702	9549	OMIM:619354	DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY; DCIDP
HP:0000177	HP:0000288	Abnormality of the philtrum	1	PSMD12 CL E G H	5718	9557	ORPHA:529962	17q24.2 microdeletion syndrome			4
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	PSMD12 CL E G H	5718	9557	ORPHA:529962	17q24.2 microdeletion syndrome			4
HP:0000177	HP:0000204	Cleft upper lip	1	PTCH1 CL E G H	5727	9585	ORPHA:93925	Alobar holoprosencephaly			665
HP:0000177	HP:0000204	Cleft upper lip	1	PTCH1 CL E G H	5727	9585	OMIM:109400	Basal cell nevus syndrome			665
HP:0000177	HP:0000204	Cleft upper lip	1	PTCH1 CL E G H	5727	9585	OMIM:610828	Holoprosencephaly 7			665
HP:0000177	HP:0000204	Cleft upper lip	1	PTCH1 CL E G H	5727	9585	ORPHA:93924	Lobar holoprosencephaly			665
HP:0000177	HP:0000288	Abnormality of the philtrum	1	PTCH1 CL E G H	5727	9585	ORPHA:280200	Microform holoprosencephaly			665
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	PTCH1 CL E G H	5727	9585	ORPHA:280200	Microform holoprosencephaly			665
HP:0000177	HP:0000204	Cleft upper lip	1	PTCH1 CL E G H	5727	9585	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			665
HP:0000177	HP:0000288	Abnormality of the philtrum	1	PTCH1 CL E G H	5727	9585	ORPHA:77301	Monosomy 9q22.3			665
HP:0000177	HP:0000204	Cleft upper lip	1	PTCH1 CL E G H	5727	9585	ORPHA:220386	Semilobar holoprosencephaly			665
HP:0000177	HP:0000204	Cleft upper lip	1	PTCH2 CL E G H	8643	9586	OMIM:109400	Basal cell nevus syndrome			40
HP:0000177	HP:0000288	Abnormality of the philtrum	1	PTEN CL E G H	5728	9588	ORPHA:109	Bannayan-Riley-Ruvalcaba syndrome			948
HP:0000177	HP:0000288	Abnormality of the philtrum	1	PTEN CL E G H	5728	9588	OMIM:605309	Macrocephaly/autism syndrome			948
HP:0000177	HP:0000288	Abnormality of the philtrum	1	PTH1R CL E G H	5745	9608	ORPHA:50945	Blomstrand lethal chondrodysplasia			58
HP:0000177	HP:0000288	Abnormality of the philtrum	1	PTH1R CL E G H	5745	9608	OMIM:600002	Eiken syndrome			58
HP:0000177	HP:0000288	Abnormality of the philtrum	1	PTPRF CL E G H	5792	9670	OMIM:616001	Breasts and/or nipples, aplasia or hypoplasia of, 2			1
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	PTRH2 CL E G H	51651	24265	ORPHA:456312	Infantile multisystem neurologic-endocrine-pancreatic disease			6
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	PTRH2 CL E G H	51651	24265	OMIM:616263	Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset			6
HP:0000177	HP:0000288	Abnormality of the philtrum	1	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome			19
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome			19
HP:0000177	HP:0000288	Abnormality of the philtrum	1	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome			19
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome			19
HP:0000177	HP:0000288	Abnormality of the philtrum	1	PUF60 CL E G H	22827	17042	OMIM:615583	Verheij syndrome			19
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	PUF60 CL E G H	22827	17042	OMIM:615583	Verheij syndrome			19
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	PURA CL E G H	5813	9701	OMIM:616158	Mental retardation, autosomal dominant 31			53
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	PURA CL E G H	5813	9701	ORPHA:438216	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation			53
HP:0000177	HP:0000288	Abnormality of the philtrum	1	PURA CL E G H	5813	9701	ORPHA:314655	Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion			53
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	PURA CL E G H	5813	9701	ORPHA:314655	Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion			53
HP:0000177	HP:0000288	Abnormality of the philtrum	1	PUS1 CL E G H	80324	15508	ORPHA:2598	Mitochondrial myopathy and sideroblastic anemia			57
HP:0000177	HP:0000288	Abnormality of the philtrum	1	PUS7 CL E G H	54517	26033	OMIM:618342	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0000177	HP:0000288	Abnormality of the philtrum	1	PYCR1 CL E G H	5831	9721	OMIM:612940	Cutis laxa, autosomal recessive, type IIB			53
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	PYCR2 CL E G H	29920	30262	ORPHA:2512	Autosomal recessive primary microcephaly			11
HP:0000177	HP:0000288	Abnormality of the philtrum	1	PYCR2 CL E G H	29920	30262	OMIM:616420	Leukodystrophy, hypomyelinating, 10			11
HP:0000177	HP:0000288	Abnormality of the philtrum	1	PYCR2 CL E G H	29920	30262	ORPHA:481152	PYCR2-related microcephaly-progressive leukoencephalopathy			11
HP:0000177	HP:0000288	Abnormality of the philtrum	1	QRICH1 CL E G H	54870	24713	OMIM:617982	VERVERI-BRADY SYNDROME; VERBRAS
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	QRICH1 CL E G H	54870	24713	OMIM:617982	VERVERI-BRADY SYNDROME; VERBRAS
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	RAB11B CL E G H	9230	9761	OMIM:617807	Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter
HP:0000177	HP:0000288	Abnormality of the philtrum	1	RAB18 CL E G H	22931	14244	ORPHA:2510	Micro syndrome			85
HP:0000177	HP:0000288	Abnormality of the philtrum	1	RAB3GAP1 CL E G H	22930	17063	ORPHA:1387	Cataract-intellectual disability-hypogonadism syndrome			90
HP:0000177	HP:0000288	Abnormality of the philtrum	1	RAB3GAP1 CL E G H	22930	17063	ORPHA:2510	Micro syndrome			90
HP:0000177	HP:0000288	Abnormality of the philtrum	1	RAB3GAP2 CL E G H	25782	17168	ORPHA:1387	Cataract-intellectual disability-hypogonadism syndrome			135
HP:0000177	HP:0000288	Abnormality of the philtrum	1	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1			135
HP:0000177	HP:0000288	Abnormality of the philtrum	1	RAB3GAP2 CL E G H	25782	17168	ORPHA:2510	Micro syndrome			135
HP:0000177	HP:0000204	Cleft upper lip	1	RAB5IF CL E G H	55969	15870	OMIM:616994
HP:0000177	HP:0000288	Abnormality of the philtrum	1	RAC3 CL E G H	5881	9803	OMIM:618577	NEURODEVELOPMENTAL DISORDER WITH STRUCTURAL BRAIN ANOMALIES AND DYSMORPHIC FACIES; NEDBAF			1
HP:0000177	HP:0000288	Abnormality of the philtrum	1	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome			25
HP:0000177	HP:0000288	Abnormality of the philtrum	1	RAD21 CL E G H	5885	9811	OMIM:614701	Cornelia de Lange syndrome 4			25
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	RAD21 CL E G H	5885	9811	OMIM:614701	Cornelia de Lange syndrome 4			25
HP:0000177	HP:0000288	Abnormality of the philtrum	1	RAI1 CL E G H	10743	9834	ORPHA:477817	PMP22-RAI1 contiguous gene duplication syndrome			150
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	RAI1 CL E G H	10743	9834	ORPHA:477817	PMP22-RAI1 contiguous gene duplication syndrome			150
HP:0000177	HP:0000204	Cleft upper lip	1	RAI1 CL E G H	10743	9834	ORPHA:819	Smith-Magenis syndrome	HP:0040283 - Occasional		150
HP:0000177	HP:0000288	Abnormality of the philtrum	1	RAI1 CL E G H	10743	9834	ORPHA:819	Smith-Magenis syndrome			150
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	RAI1 CL E G H	10743	9834	ORPHA:819	Smith-Magenis syndrome			150
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	RAI1 CL E G H	10743	9834	OMIM:182290	Smith-Magenis syndrome			150
HP:0000177	HP:0000288	Abnormality of the philtrum	1	RALA CL E G H	5898	9839	OMIM:619311	HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME; HINCONS
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	RALA CL E G H	5898	9839	OMIM:619311	HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME; HINCONS
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	RAPSN CL E G H	5913	9863	OMIM:618388	FETAL AKINESIA DEFORMATION SEQUENCE 2; FADS2			73
HP:0000177	HP:0000288	Abnormality of the philtrum	1	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome			16
HP:0000177	HP:0000288	Abnormality of the philtrum	1	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart			16
HP:0000177	HP:0000204	Cleft upper lip	1	RET CL E G H	5979	9967	ORPHA:1848	Renal agenesis, bilateral			572
HP:0000177	HP:0000288	Abnormality of the philtrum	1	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0000177	HP:0000288	Abnormality of the philtrum	1	RHOBTB2 CL E G H	23221	18756	OMIM:618004	Epileptic encephalopathy, early infantile, 64			1
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	RHOBTB2 CL E G H	23221	18756	OMIM:618004	Epileptic encephalopathy, early infantile, 64			1
HP:0000177	HP:0000288	Abnormality of the philtrum	1	RIC1 CL E G H	57589	17686	OMIM:618761	CATIFA SYNDROME; CATIFA
HP:0000177	HP:0000288	Abnormality of the philtrum	1	RIN2 CL E G H	54453	18750	OMIM:613075	Macs syndrome			43
HP:0000177	HP:0000288	Abnormality of the philtrum	1	RIN2 CL E G H	54453	18750	ORPHA:217335	RIN2 syndrome			43
HP:0000177	HP:0000204	Cleft upper lip	1	RIPK4 CL E G H	54101	496	ORPHA:1234	Bartsocas-Papas syndrome			69
HP:0000177	HP:0000204	Cleft upper lip	1	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1			69
HP:0000177	HP:0000288	Abnormality of the philtrum	1	RIPPLY2 CL E G H	134701	21390	ORPHA:2311	Autosomal recessive spondylocostal dysostosis			3
HP:0000177	HP:0000288	Abnormality of the philtrum	1	RNF135 CL E G H	84282	21158	ORPHA:137634	Overgrowth-macrocephaly-facial dysmorphism syndrome			11
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	RNF135 CL E G H	84282	21158	ORPHA:137634	Overgrowth-macrocephaly-facial dysmorphism syndrome			11
HP:0000177	HP:0000288	Abnormality of the philtrum	1	RNF2 CL E G H	6045	10061	OMIM:619460	LUO-SCHOCH-YAMAMOTO SYNDROME; LUSYAM
HP:0000177	HP:0000288	Abnormality of the philtrum	1	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I			15
HP:0000177	HP:0000288	Abnormality of the philtrum	1	RNU4ATAC CL E G H	100151683	34016	OMIM:616651	Roifman syndrome			15
HP:0000177	HP:0000288	Abnormality of the philtrum	1	RNU4ATAC CL E G H	100151683	34016	ORPHA:353298	Roifman syndrome			15
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	RNU4ATAC CL E G H	100151683	34016	OMIM:616651	Roifman syndrome			15
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	RNU4ATAC CL E G H	100151683	34016	ORPHA:353298	Roifman syndrome			15
HP:0000177	HP:0000288	Abnormality of the philtrum	1	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome			120
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome			120
HP:0000177	HP:0000288	Abnormality of the philtrum	1	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive			120
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive			120
HP:0000177	HP:0000204	Cleft upper lip	1	RPGRIP1L CL E G H	23322	29168	OMIM:611561	Meckel syndrome, type 5	.		167
HP:0000177	HP:0000288	Abnormality of the philtrum	1	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35			10
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35			10
HP:0000177	HP:0000288	Abnormality of the philtrum	1	RPL10 CL E G H	6134	10298	ORPHA:459070	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome			10
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	RPL10 CL E G H	6134	10298	ORPHA:459070	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome			10
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	RPL10 CL E G H	6134	10298	ORPHA:435938	X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome			10
HP:0000177	HP:0000204	Cleft upper lip	1	RPL5 CL E G H	6125	10360	OMIM:612561	Diamond-Blackfan anemia 6			40
HP:0000177	HP:0000204	Cleft upper lip	1	RPS19 CL E G H	6223	10402	OMIM:105650	Diamond-Blackfan anemia 1	.		42
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	RPS7 CL E G H	6201	10440	OMIM:612563	Diamond-Blackfan anemia 8			20
HP:0000177	HP:0000288	Abnormality of the philtrum	1	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome
HP:0000177	HP:0000204	Cleft upper lip	1	RSPO2 CL E G H	340419	28583	OMIM:618021	Tetraamelia syndrome 2
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	RSPRY1 CL E G H	89970	29420	ORPHA:457395	Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome			2
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	RSPRY1 CL E G H	89970	29420	OMIM:616723	Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type			2
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	RTL1 CL E G H	388015	14665	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion
HP:0000177	HP:0000288	Abnormality of the philtrum	1	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0000177	HP:0000288	Abnormality of the philtrum	1	RTL1 CL E G H	388015	14665	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14
HP:0000177	HP:0000288	Abnormality of the philtrum	1	RTL1 CL E G H	388015	14665	ORPHA:254531	Temple syndrome due to paternal 14q32.2 hypomethylation
HP:0000177	HP:0000288	Abnormality of the philtrum	1	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency			113
HP:0000177	HP:0000288	Abnormality of the philtrum	1	RUNX2 CL E G H	860	10472	OMIM:156510	Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly			90
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	RYR1 CL E G H	6261	10483	ORPHA:98905	Congenital multicore myopathy with external ophthalmoplegia			1200
HP:0000177	HP:0000288	Abnormality of the philtrum	1	RYR1 CL E G H	6261	10483	OMIM:619542	KING-DENBOROUGH SYNDROME; KDS			1200
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	SASS6 CL E G H	163786	25403	ORPHA:2512	Autosomal recessive primary microcephaly			4
HP:0000177	HP:0000288	Abnormality of the philtrum	1	SATB1 CL E G H	6304	10541	OMIM:619229	KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0000177	HP:0000288	Abnormality of the philtrum	1	SATB2 CL E G H	23314	21637	ORPHA:251019	2q32q33 microdeletion syndrome			34
HP:0000177	HP:0000288	Abnormality of the philtrum	1	SATB2 CL E G H	23314	21637	OMIM:612313	Glass syndrome			34
HP:0000177	HP:0000288	Abnormality of the philtrum	1	SATB2 CL E G H	23314	21637	ORPHA:251028	SATB2-associated syndrome due to a chromosomal rearrangement			34
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	SATB2 CL E G H	23314	21637	ORPHA:251028	SATB2-associated syndrome due to a chromosomal rearrangement	HP:0040283 - Occasional		34
HP:0000177	HP:0000288	Abnormality of the philtrum	1	SATB2 CL E G H	23314	21637	ORPHA:576283	SATB2-associated syndrome due to a pathogenic variant			34
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	SATB2 CL E G H	23314	21637	ORPHA:576283	SATB2-associated syndrome due to a pathogenic variant			34
HP:0000177	HP:0000288	Abnormality of the philtrum	1	SC5D CL E G H	6309	10547	ORPHA:46059	Lathosterolosis			80
HP:0000177	HP:0000288	Abnormality of the philtrum	1	SC5D CL E G H	6309	10547	OMIM:607330	LATHOSTEROLOSIS			80
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	SC5D CL E G H	6309	10547	OMIM:607330	LATHOSTEROLOSIS			80
HP:0000177	HP:0000288	Abnormality of the philtrum	1	SCN1A CL E G H	6323	10585	ORPHA:1942	Myoclonic-astatic epilepsy			1053
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	SCN1A CL E G H	6323	10585	ORPHA:1942	Myoclonic-astatic epilepsy			1053
HP:0000177	HP:0000288	Abnormality of the philtrum	1	SEC23A CL E G H	10484	10701	ORPHA:50814	Craniolenticulosutural dysplasia			2
HP:0000177	HP:0000288	Abnormality of the philtrum	1	SEC23A CL E G H	10484	10701	OMIM:607812	Craniolenticulosutural dysplasia			2
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	SEC23A CL E G H	10484	10701	OMIM:607812	Craniolenticulosutural dysplasia			2
HP:0000177	HP:0000288	Abnormality of the philtrum	1	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome
HP:0000177	HP:0000204	Cleft upper lip	1	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome	HP:0040282 - Frequent		16
HP:0000177	HP:0000288	Abnormality of the philtrum	1	SETBP1 CL E G H	26040	15573	OMIM:616078	Mental retardation, autosomal dominant 29			143
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	SETBP1 CL E G H	26040	15573	OMIM:616078	Mental retardation, autosomal dominant 29			143
HP:0000177	HP:0000288	Abnormality of the philtrum	1	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome			143
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	SETD1A CL E G H	9739	29010	OMIM:619056	NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND DYSMORPHIC FACIES; NEDSID			6
HP:0000177	HP:0000288	Abnormality of the philtrum	1	SETD5 CL E G H	55209	25566	ORPHA:404440	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency			43
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	SETD5 CL E G H	55209	25566	ORPHA:404440	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency			43
HP:0000177	HP:0000288	Abnormality of the philtrum	1	SETD5 CL E G H	55209	25566	OMIM:615761	MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD23			43
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	SETD5 CL E G H	55209	25566	OMIM:615761	MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD23			43
HP:0000177	HP:0000204	Cleft upper lip	1	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia	.		2
HP:0000177	HP:0000204	Cleft upper lip	1	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type	.		49
HP:0000177	HP:0000204	Cleft upper lip	1	SF3B4 CL E G H	10262	10771	ORPHA:245	Nager syndrome			49
HP:0000177	HP:0000288	Abnormality of the philtrum	1	SH3PXD2B CL E G H	285590	29242	ORPHA:137834	Frank-Ter Haar syndrome			134
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	SH3PXD2B CL E G H	285590	29242	OMIM:249420	Frank-ter Haar syndrome			134
HP:0000177	HP:0000288	Abnormality of the philtrum	1	SHANK3 CL E G H	85358	14294	OMIM:606232	Phelan-Mcdermid syndrome			53
HP:0000177	HP:0000204	Cleft upper lip	1	SHH CL E G H	6469	10848	ORPHA:93925	Alobar holoprosencephaly			67
HP:0000177	HP:0000204	Cleft upper lip	1	SHH CL E G H	6469	10848	ORPHA:93924	Lobar holoprosencephaly			67
HP:0000177	HP:0000288	Abnormality of the philtrum	1	SHH CL E G H	6469	10848	ORPHA:280200	Microform holoprosencephaly			67
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	SHH CL E G H	6469	10848	ORPHA:280200	Microform holoprosencephaly			67
HP:0000177	HP:0000204	Cleft upper lip	1	SHH CL E G H	6469	10848	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			67
HP:0000177	HP:0000204	Cleft upper lip	1	SHH CL E G H	6469	10848	ORPHA:220386	Semilobar holoprosencephaly			67
HP:0000177	HP:0000204	Cleft upper lip	1	SHH CL E G H	6469	10848	OMIM:147250	Solitary median maxillary central incisor			67
HP:0000177	HP:0000288	Abnormality of the philtrum	1	SHMT2 CL E G H	6472	10852	OMIM:619121	NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	SHMT2 CL E G H	6472	10852	OMIM:619121	NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0000177	HP:0000288	Abnormality of the philtrum	1	SHOC2 CL E G H	8036	15454	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair			74
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	SIM1 CL E G H	6492	10882	ORPHA:398079	SIM1-related Prader-Willi-like syndrome			40
HP:0000177	HP:0000288	Abnormality of the philtrum	1	SIN3A CL E G H	25942	19353	ORPHA:94065	15q24 microdeletion syndrome			9
HP:0000177	HP:0000288	Abnormality of the philtrum	1	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome			9
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome			9
HP:0000177	HP:0000204	Cleft upper lip	1	SIX3 CL E G H	6496	10889	ORPHA:93925	Alobar holoprosencephaly			32
HP:0000177	HP:0000204	Cleft upper lip	1	SIX3 CL E G H	6496	10889	OMIM:157170	Holoprosencephaly 2			32
HP:0000177	HP:0000204	Cleft upper lip	1	SIX3 CL E G H	6496	10889	ORPHA:93924	Lobar holoprosencephaly			32
HP:0000177	HP:0000288	Abnormality of the philtrum	1	SIX3 CL E G H	6496	10889	ORPHA:280200	Microform holoprosencephaly			32
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	SIX3 CL E G H	6496	10889	ORPHA:280200	Microform holoprosencephaly			32
HP:0000177	HP:0000204	Cleft upper lip	1	SIX3 CL E G H	6496	10889	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			32
HP:0000177	HP:0000204	Cleft upper lip	1	SIX3 CL E G H	6496	10889	ORPHA:220386	Semilobar holoprosencephaly			32
HP:0000177	HP:0000288	Abnormality of the philtrum	1	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome			150
HP:0000177	HP:0000288	Abnormality of the philtrum	1	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	SLC1A3 CL E G H	6507	10941	ORPHA:2131	Alternating hemiplegia of childhood			63
HP:0000177	HP:0000288	Abnormality of the philtrum	1	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	SLC25A46 CL E G H	91137	25198	OMIM:616505	Neuropathy, hereditary motor and sensory, type VIB			14
HP:0000177	HP:0000288	Abnormality of the philtrum	1	SLC26A2 CL E G H	1836	10994	ORPHA:93298	Achondrogenesis type 1B			166
HP:0000177	HP:0000288	Abnormality of the philtrum	1	SLC26A2 CL E G H	1836	10994	ORPHA:56304	Atelosteogenesis type II			166
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	SLC26A2 CL E G H	1836	10994	ORPHA:56304	Atelosteogenesis type II			166
HP:0000177	HP:0000204	Cleft upper lip	1	SLC29A3 CL E G H	55315	23096	ORPHA:168569	H syndrome	HP:0040283 - Occasional		68
HP:0000177	HP:0000288	Abnormality of the philtrum	1	SLC2A1 CL E G H	6513	11005	ORPHA:1942	Myoclonic-astatic epilepsy			255
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	SLC2A1 CL E G H	6513	11005	ORPHA:1942	Myoclonic-astatic epilepsy			255
HP:0000177	HP:0000204	Cleft upper lip	1	SLC2A10 CL E G H	81031	13444	ORPHA:3342	Arterial tortuosity syndrome			178
HP:0000177	HP:0000288	Abnormality of the philtrum	1	SLC2A10 CL E G H	81031	13444	OMIM:208050	Arterial tortuosity syndrome			178
HP:0000177	HP:0000288	Abnormality of the philtrum	1	SLC35A1 CL E G H	10559	11021	OMIM:603585	Congenital disorder of glycosylation, type IIf			24
HP:0000177	HP:0000288	Abnormality of the philtrum	1	SLC35A2 CL E G H	7355	11022	OMIM:300896	Congenital disorder of glycosylation, type IIm			27
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	SLC35A2 CL E G H	7355	11022	OMIM:300896	Congenital disorder of glycosylation, type IIm			27
HP:0000177	HP:0000288	Abnormality of the philtrum	1	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II			71
HP:0000177	HP:0011341	Long upper lip	1	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II	HP:0040283 - Occasional		71
HP:0000177	HP:0000288	Abnormality of the philtrum	1	SLC45A1 CL E G H	50651	17939	OMIM:617532	Intellectual developmental disorder with neuropsychiatric features			2
HP:0000177	HP:0000288	Abnormality of the philtrum	1	SLC6A1 CL E G H	6529	11042	ORPHA:1942	Myoclonic-astatic epilepsy			29
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	SLC6A1 CL E G H	6529	11042	ORPHA:1942	Myoclonic-astatic epilepsy			29
HP:0000177	HP:0000288	Abnormality of the philtrum	1	SLC6A17 CL E G H	388662	31399	OMIM:616269	Mental retardation, autosomal recessive 48			12
HP:0000177	HP:0000288	Abnormality of the philtrum	1	SLC6A17 CL E G H	388662	31399	ORPHA:457212	Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome			12
HP:0000177	HP:0000288	Abnormality of the philtrum	1	SLC9A7 CL E G H	84679	17123	OMIM:301024	Intellectual developmental disorder, X-linked 108
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	SLC9A7 CL E G H	84679	17123	OMIM:301024	Intellectual developmental disorder, X-linked 108
HP:0000177	HP:0000204	Cleft upper lip	1	SMAD4 CL E G H	4089	6770	ORPHA:2588	Myhre syndrome			504
HP:0000177	HP:0000288	Abnormality of the philtrum	1	SMAD4 CL E G H	4089	6770	OMIM:139210	Myhre syndrome			504
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	SMAD4 CL E G H	4089	6770	OMIM:139210	Myhre syndrome			504
HP:0000177	HP:0000288	Abnormality of the philtrum	1	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS			146
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS			146
HP:0000177	HP:0000288	Abnormality of the philtrum	1	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome			146
HP:0000177	HP:0000288	Abnormality of the philtrum	1	SMARCA2 CL E G H	6595	11098	ORPHA:3051	Nicolaides-Baraitser syndrome			146
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome			146
HP:0000177	HP:0000288	Abnormality of the philtrum	1	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome			617
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome			617
HP:0000177	HP:0000288	Abnormality of the philtrum	1	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome			87
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome			87
HP:0000177	HP:0000288	Abnormality of the philtrum	1	SMARCB1 CL E G H	6598	11103	OMIM:614608	Coffin-Siris syndrome 3			87
HP:0000177	HP:0000288	Abnormality of the philtrum	1	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome			1
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome			1
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	SMARCC2 CL E G H	6601	11105	OMIM:618362	Coffin-Siris syndrome 8			1
HP:0000177	HP:0000288	Abnormality of the philtrum	1	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome
HP:0000177	HP:0000288	Abnormality of the philtrum	1	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome			47
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome			47
HP:0000177	HP:0000288	Abnormality of the philtrum	1	SMARCE1 CL E G H	6605	11109	OMIM:616938	Coffin-Siris syndrome 5			47
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	SMARCE1 CL E G H	6605	11109	OMIM:616938	Coffin-Siris syndrome 5			47
HP:0000177	HP:0000288	Abnormality of the philtrum	1	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome			135
HP:0000177	HP:0000288	Abnormality of the philtrum	1	SMC1A CL E G H	8243	11111	OMIM:300590	Cornelia de Lange syndrome 2			135
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	SMC1A CL E G H	8243	11111	OMIM:300590	Cornelia de Lange syndrome 2			135
HP:0000177	HP:0000288	Abnormality of the philtrum	1	SMC1A CL E G H	8243	11111	OMIM:301044	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85			135
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	SMC1A CL E G H	8243	11111	OMIM:301044	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85			135
HP:0000177	HP:0000204	Cleft upper lip	1	SMC1A CL E G H	8243	11111	ORPHA:220386	Semilobar holoprosencephaly			135
HP:0000177	HP:0000288	Abnormality of the philtrum	1	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome			91
HP:0000177	HP:0000288	Abnormality of the philtrum	1	SMC3 CL E G H	9126	2468	OMIM:610759	Cornelia de Lange syndrome 3			91
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	SMC3 CL E G H	9126	2468	OMIM:610759	Cornelia de Lange syndrome 3			91
HP:0000177	HP:0000288	Abnormality of the philtrum	1	SMG8 CL E G H	55181	25551	OMIM:619268	ALZAHRANI-KUWAHARA SYNDROME; ALKUS
HP:0000177	HP:0000204	Cleft upper lip	1	SMO CL E G H	6608	11119	OMIM:241800	Hypothalamic hamartomascongenital hypothalamic hamartoma syndrome, included			22
HP:0000177	HP:0000204	Cleft upper lip	1	SMOC1 CL E G H	64093	20318	ORPHA:1106	Microphthalmia with limb anomalies	HP:0040282 - Frequent		15
HP:0000177	HP:0000204	Cleft upper lip	1	SMOC1 CL E G H	64093	20318	OMIM:206920	Microphthalmia with limb anomalies	.		15
HP:0000177	HP:0000288	Abnormality of the philtrum	1	SMOC1 CL E G H	64093	20318	ORPHA:1106	Microphthalmia with limb anomalies			15
HP:0000177	HP:0000288	Abnormality of the philtrum	1	SMOC1 CL E G H	64093	20318	OMIM:206920	Microphthalmia with limb anomalies			15
HP:0000177	HP:0000204	Cleft upper lip	1	SMPD4 CL E G H	55627	32949	OMIM:618622	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA			1
HP:0000177	HP:0000288	Abnormality of the philtrum	1	SMPD4 CL E G H	55627	32949	OMIM:618622	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA			1
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	SMPD4 CL E G H	55627	32949	OMIM:618622	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA			1
HP:0000177	HP:0000288	Abnormality of the philtrum	1	SMS CL E G H	6611	11123	OMIM:309583	Mental retardation, X-linked, syndromic, Snyder-Robinson type			19
HP:0000177	HP:0000288	Abnormality of the philtrum	1	SMS CL E G H	6611	11123	ORPHA:3063	X-linked intellectual disability, Snyder type			19
HP:0000177	HP:0000288	Abnormality of the philtrum	1	SNAI2 CL E G H	6591	11094	ORPHA:2884	Piebaldism			19
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome
HP:0000177	HP:0000288	Abnormality of the philtrum	1	SNRPB CL E G H	6628	11153	OMIM:117650	Cerebrocostomandibular syndrome			6
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	SNRPN CL E G H	6638	11164	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1			37
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation			37
HP:0000177	HP:0000288	Abnormality of the philtrum	1	SNX14 CL E G H	57231	14977	ORPHA:397709	Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome			14
HP:0000177	HP:0000288	Abnormality of the philtrum	1	SNX14 CL E G H	57231	14977	OMIM:616354	Spinocerebellar ataxia, autosomal recessive 20			14
HP:0000177	HP:0000288	Abnormality of the philtrum	1	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome			12
HP:0000177	HP:0000288	Abnormality of the philtrum	1	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome			12
HP:0000177	HP:0000288	Abnormality of the philtrum	1	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome			14
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome			14
HP:0000177	HP:0000288	Abnormality of the philtrum	1	SOX11 CL E G H	6664	11191	OMIM:615866	Mental retardation, autosomal dominant 27			14
HP:0000177	HP:0000288	Abnormality of the philtrum	1	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome
HP:0000177	HP:0000288	Abnormality of the philtrum	1	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia			109
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	SPATA5L1 CL E G H	79029	28762	OMIM:619616	NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY; NEDHLS
HP:0000177	HP:0000204	Cleft upper lip	1	SPECC1L CL E G H	23384	29022	OMIM:600251	Facial clefting, oblique, 1	.		6
HP:0000177	HP:0000288	Abnormality of the philtrum	1	SPECC1L CL E G H	23384	29022	OMIM:145420	Hypertelorism, Teebi type			6
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	SPECC1L CL E G H	23384	29022	OMIM:145420	Hypertelorism, Teebi type			6
HP:0000177	HP:0000288	Abnormality of the philtrum	1	SPECC1L CL E G H	23384	29022	ORPHA:1519	SPECC1L-related hypertelorism syndrome			6
HP:0000177	HP:0000288	Abnormality of the philtrum	1	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome			4
HP:0000177	HP:0000288	Abnormality of the philtrum	1	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS			4
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS			4
HP:0000177	HP:0000288	Abnormality of the philtrum	1	SPOP CL E G H	8405	11254	OMIM:618828	NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS1			16
HP:0000177	HP:0000204	Cleft upper lip	1	SPOP CL E G H	8405	11254	OMIM:618829	NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS2			16
HP:0000177	HP:0000288	Abnormality of the philtrum	1	SPRED2 CL E G H	200734	17722	OMIM:619745	NOONAN SYNDROME 14; NS14
HP:0000177	HP:0000288	Abnormality of the philtrum	1	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0000177	HP:0000288	Abnormality of the philtrum	1	SRCAP CL E G H	10847	16974	OMIM:619595	DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES; DEHMBA			138
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	SRCAP CL E G H	10847	16974	OMIM:619595	DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES; DEHMBA			138
HP:0000177	HP:0000288	Abnormality of the philtrum	1	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome			138
HP:0000177	HP:0000288	Abnormality of the philtrum	1	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome			138
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome			138
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	SSR4 CL E G H	6748	11326	ORPHA:370927	SSR4-CDG	HP:0040281 - Very frequent		12
HP:0000177	HP:0000204	Cleft upper lip	1	STAG2 CL E G H	10735	11355	ORPHA:93925	Alobar holoprosencephaly			1
HP:0000177	HP:0000204	Cleft upper lip	1	STAG2 CL E G H	10735	11355	OMIM:301043	HOLOPROSENCEPHALY 13, X-LINKED; HPE13			1
HP:0000177	HP:0000288	Abnormality of the philtrum	1	STAG2 CL E G H	10735	11355	OMIM:301022	Neurodevelopmental disorder, X-linked, with craniofacial abnormalities			1
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	STAG2 CL E G H	10735	11355	OMIM:301022	Neurodevelopmental disorder, X-linked, with craniofacial abnormalities			1
HP:0000177	HP:0000204	Cleft upper lip	1	STAG2 CL E G H	10735	11355	ORPHA:220386	Semilobar holoprosencephaly			1
HP:0000177	HP:0000288	Abnormality of the philtrum	1	STEEP1 CL E G H	63932	26239	OMIM:301013	MENTAL RETARDATION, X-LINKED 107; MRX107
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	STEEP1 CL E G H	63932	26239	OMIM:301013	MENTAL RETARDATION, X-LINKED 107; MRX107
HP:0000177	HP:0000204	Cleft upper lip	1	STIL CL E G H	6491	10879	ORPHA:93925	Alobar holoprosencephaly			99
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	STIL CL E G H	6491	10879	ORPHA:2512	Autosomal recessive primary microcephaly			99
HP:0000177	HP:0000204	Cleft upper lip	1	STIL CL E G H	6491	10879	ORPHA:93924	Lobar holoprosencephaly			99
HP:0000177	HP:0000204	Cleft upper lip	1	STIL CL E G H	6491	10879	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			99
HP:0000177	HP:0000204	Cleft upper lip	1	STIL CL E G H	6491	10879	ORPHA:220386	Semilobar holoprosencephaly			99
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	STRADA CL E G H	92335	30172	OMIM:611087	Polyhydramnios, megalencephaly, and symptomatic epilepsy			6
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	STRADA CL E G H	92335	30172	ORPHA:500533	Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome			6
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	STT3A CL E G H	3703	6172	OMIM:619714	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT; CDG1WAD			21
HP:0000177	HP:0000288	Abnormality of the philtrum	1	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0000177	HP:0000288	Abnormality of the philtrum	1	STXBP1 CL E G H	6812	11444	ORPHA:495818	9q33.3q34.11 microdeletion syndrome			237
HP:0000177	HP:0000204	Cleft upper lip	1	SUFU CL E G H	51684	16466	OMIM:109400	Basal cell nevus syndrome			124
HP:0000177	HP:0000288	Abnormality of the philtrum	1	SUFU CL E G H	51684	16466	ORPHA:280200	Microform holoprosencephaly			124
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	SUFU CL E G H	51684	16466	ORPHA:280200	Microform holoprosencephaly			124
HP:0000177	HP:0000288	Abnormality of the philtrum	1	SUMF1 CL E G H	285362	20376	ORPHA:585	Multiple sulfatase deficiency			80
HP:0000177	HP:0000204	Cleft upper lip	1	SUMO1 CL E G H	7341	12502	OMIM:613705	Orofacial cleft 10			8
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	SUPT16H CL E G H	11198	11465	OMIM:619480	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC
HP:0000177	HP:0000288	Abnormality of the philtrum	1	SUZ12 CL E G H	23512	17101	ORPHA:3447	Weaver syndrome			1
HP:0000177	HP:0000288	Abnormality of the philtrum	1	SYNE1 CL E G H	23345	17089	ORPHA:319332	Autosomal recessive myogenic arthrogryposis multiplex congenita			1129
HP:0000177	HP:0000288	Abnormality of the philtrum	1	SYNGAP1 CL E G H	8831	11497	ORPHA:1942	Myoclonic-astatic epilepsy			108
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	SYNGAP1 CL E G H	8831	11497	ORPHA:1942	Myoclonic-astatic epilepsy			108
HP:0000177	HP:0000288	Abnormality of the philtrum	1	SYT1 CL E G H	6857	11509	OMIM:618218	Baker-Gordon syndrome			1
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	SYT1 CL E G H	6857	11509	OMIM:618218	Baker-Gordon syndrome			1
HP:0000177	HP:0000288	Abnormality of the philtrum	1	SYT1 CL E G H	6857	11509	ORPHA:522077	Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome			1
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	SYT1 CL E G H	6857	11509	ORPHA:522077	Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome			1
HP:0000177	HP:0000288	Abnormality of the philtrum	1	TAB2 CL E G H	23118	17075	ORPHA:228410	Polyvalvular heart disease syndrome			11
HP:0000177	HP:0000288	Abnormality of the philtrum	1	TAF1 CL E G H	6872	11535	OMIM:300966	MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33			21
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	TAF1 CL E G H	6872	11535	OMIM:300966	MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33			21
HP:0000177	HP:0000288	Abnormality of the philtrum	1	TAF1 CL E G H	6872	11535	ORPHA:480907	X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome			21
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	TAF1 CL E G H	6872	11535	ORPHA:480907	X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome			21
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	TAF13 CL E G H	6884	11546	ORPHA:2512	Autosomal recessive primary microcephaly			2
HP:0000177	HP:0000288	Abnormality of the philtrum	1	TAF6 CL E G H	6878	11540	OMIM:617126	Alazami-Yuan syndrome			5
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	TAF6 CL E G H	6878	11540	OMIM:617126	Alazami-Yuan syndrome			5
HP:0000177	HP:0000288	Abnormality of the philtrum	1	TAF8 CL E G H	129685	17300	OMIM:619972
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	TAF8 CL E G H	129685	17300	OMIM:619972
HP:0000177	HP:0000288	Abnormality of the philtrum	1	TALDO1 CL E G H	6888	11559	OMIM:606003	Transaldolase deficiency			34
HP:0000177	HP:0000288	Abnormality of the philtrum	1	TAOK1 CL E G H	57551	29259	OMIM:619575	DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0000177	HP:0000204	Cleft upper lip	1	TAPT1 CL E G H	202018	26887	OMIM:616897	Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type			2
HP:0000177	HP:0000288	Abnormality of the philtrum	1	TASP1 CL E G H	55617	15859	OMIM:618950	SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	TASP1 CL E G H	55617	15859	OMIM:618950	SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0000177	HP:0000288	Abnormality of the philtrum	1	TBC1D20 CL E G H	128637	16133	ORPHA:2510	Micro syndrome			15
HP:0000177	HP:0000288	Abnormality of the philtrum	1	TBC1D20 CL E G H	128637	16133	OMIM:615663	Warburg micro syndrome 4			15
HP:0000177	HP:0000288	Abnormality of the philtrum	1	TBC1D24 CL E G H	57465	29203	OMIM:220500	Doors syndrome			271
HP:0000177	HP:0000288	Abnormality of the philtrum	1	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome			271
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome			271
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	TBC1D24 CL E G H	57465	29203	OMIM:220500	Doors syndrome			271
HP:0000177	HP:0000288	Abnormality of the philtrum	1	TBCE CL E G H	6905	11582	OMIM:241410	Hypoparathyroidism-Retardation-Dysmorphism syndrome			52
HP:0000177	HP:0000288	Abnormality of the philtrum	1	TBCE CL E G H	6905	11582	ORPHA:2323	Sanjad-Sakati syndrome			52
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	TBCK CL E G H	93627	28261	OMIM:616900	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3			13
HP:0000177	HP:0000288	Abnormality of the philtrum	1	TBCK CL E G H	93627	28261	ORPHA:488632	TBCK-related intellectual disability syndrome			13
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	TBCK CL E G H	93627	28261	ORPHA:488632	TBCK-related intellectual disability syndrome			13
HP:0000177	HP:0000288	Abnormality of the philtrum	1	TBL1XR1 CL E G H	79718	29529	OMIM:602342	Pierpont syndrome			22
HP:0000177	HP:0000288	Abnormality of the philtrum	1	TBL1XR1 CL E G H	79718	29529	ORPHA:487825	Pierpont syndrome			22
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	TBL1XR1 CL E G H	79718	29529	ORPHA:487825	Pierpont syndrome			22
HP:0000177	HP:0011341	Long upper lip	1	TBL1XR1 CL E G H	79718	29529	ORPHA:487825	Pierpont syndrome	HP:0040282 - Frequent		22
HP:0000177	HP:0011341	Long upper lip	1	TBL1XR1 CL E G H	79718	29529	OMIM:602342	Pierpont syndrome	.		22
HP:0000177	HP:0000288	Abnormality of the philtrum	1	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0000177	HP:0000288	Abnormality of the philtrum	1	TBR1 CL E G H	10716	11590	ORPHA:1617	2q24 microdeletion syndrome			1
HP:0000177	HP:0000288	Abnormality of the philtrum	1	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome			32
HP:0000177	HP:0000288	Abnormality of the philtrum	1	TBX1 CL E G H	6899	11592	ORPHA:1727	22q11.2 duplication syndrome			32
HP:0000177	HP:0000288	Abnormality of the philtrum	1	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome			32
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	TCF20 CL E G H	6942	11631	OMIM:618430	Developmental delay with variable intellectual impairment and behavioral abnormalities			1
HP:0000177	HP:0000288	Abnormality of the philtrum	1	TCF3 CL E G H	6929	11633	OMIM:619824	AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B			2
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	TCF3 CL E G H	6929	11633	OMIM:619824	AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B			2
HP:0000177	HP:0000288	Abnormality of the philtrum	1	TCF4 CL E G H	6925	11634	OMIM:610954	Pitt-Hopkins syndrome			241
HP:0000177	HP:0000288	Abnormality of the philtrum	1	TCF4 CL E G H	6925	11634	ORPHA:2896	Pitt-Hopkins syndrome			241
HP:0000177	HP:0000204	Cleft upper lip	1	TCOF1 CL E G H	6949	11654	ORPHA:861	Treacher-Collins syndrome	HP:0040283 - Occasional		140
HP:0000177	HP:0000204	Cleft upper lip	1	TCTN2 CL E G H	79867	25774	OMIM:613885	Meckel syndrome, type 8	.		76
HP:0000177	HP:0000204	Cleft upper lip	1	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4			31
HP:0000177	HP:0000288	Abnormality of the philtrum	1	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4			31
HP:0000177	HP:0000204	Cleft upper lip	1	TDGF1 CL E G H	6997	11701	ORPHA:93925	Alobar holoprosencephaly			1
HP:0000177	HP:0000204	Cleft upper lip	1	TDGF1 CL E G H	6997	11701	ORPHA:93924	Lobar holoprosencephaly			1
HP:0000177	HP:0000288	Abnormality of the philtrum	1	TDGF1 CL E G H	6997	11701	ORPHA:280200	Microform holoprosencephaly			1
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	TDGF1 CL E G H	6997	11701	ORPHA:280200	Microform holoprosencephaly			1
HP:0000177	HP:0000204	Cleft upper lip	1	TDGF1 CL E G H	6997	11701	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			1
HP:0000177	HP:0000204	Cleft upper lip	1	TDGF1 CL E G H	6997	11701	ORPHA:220386	Semilobar holoprosencephaly			1
HP:0000177	HP:0000288	Abnormality of the philtrum	1	TENM3 CL E G H	55714	29944	OMIM:615145	Microphthalmia, isolated, with coloboma 9			12
HP:0000177	HP:0000288	Abnormality of the philtrum	1	TET3 CL E G H	200424	28313	OMIM:618798	BECK-FAHRNER SYNDROME; BEFAHRS
HP:0000177	HP:0000204	Cleft upper lip	1	TFAP2A CL E G H	7020	11742	ORPHA:1297	Branchio-oculo-facial syndrome			12
HP:0000177	HP:0000288	Abnormality of the philtrum	1	TFAP2A CL E G H	7020	11742	ORPHA:1297	Branchio-oculo-facial syndrome			12
HP:0000177	HP:0100268	Upper lip pit	1	TFAP2A CL E G H	7020	11742	ORPHA:1297	Branchio-oculo-facial syndrome	HP:0040283 - Occasional		12
HP:0000177	HP:0000204	Cleft upper lip	1	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome	.		12
HP:0000177	HP:0000288	Abnormality of the philtrum	1	TFAP2B CL E G H	7021	11743	OMIM:169100	Char syndrome			104
HP:0000177	HP:0000288	Abnormality of the philtrum	1	TFAP2B CL E G H	7021	11743	ORPHA:46627	Char syndrome			104
HP:0000177	HP:0000204	Cleft upper lip	1	TGDS CL E G H	23483	20324	OMIM:616145	Catel-Manzke syndrome	.		6
HP:0000177	HP:0000288	Abnormality of the philtrum	1	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5			85
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5			85
HP:0000177	HP:0000204	Cleft upper lip	1	TGIF1 CL E G H	7050	11776	ORPHA:93925	Alobar holoprosencephaly			32
HP:0000177	HP:0000204	Cleft upper lip	1	TGIF1 CL E G H	7050	11776	OMIM:142946	Holoprosencephaly 4			32
HP:0000177	HP:0000204	Cleft upper lip	1	TGIF1 CL E G H	7050	11776	ORPHA:93924	Lobar holoprosencephaly			32
HP:0000177	HP:0000288	Abnormality of the philtrum	1	TGIF1 CL E G H	7050	11776	ORPHA:280200	Microform holoprosencephaly			32
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	TGIF1 CL E G H	7050	11776	ORPHA:280200	Microform holoprosencephaly			32
HP:0000177	HP:0000204	Cleft upper lip	1	TGIF1 CL E G H	7050	11776	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			32
HP:0000177	HP:0000204	Cleft upper lip	1	TGIF1 CL E G H	7050	11776	ORPHA:220386	Semilobar holoprosencephaly			32
HP:0000177	HP:0000288	Abnormality of the philtrum	1	THOC6 CL E G H	79228	28369	ORPHA:363444	THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome			1
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	THOC6 CL E G H	79228	28369	ORPHA:363444	THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome			1
HP:0000177	HP:0000288	Abnormality of the philtrum	1	THUMPD1 CL E G H	55623	23807	OMIM:619989
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	THUMPD1 CL E G H	55623	23807	OMIM:619989
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	TLK2 CL E G H	11011	11842	OMIM:618050	Mental retardation, autosomal dominant 57			1
HP:0000177	HP:0000204	Cleft upper lip	1	TMCO1 CL E G H	54499	18188	ORPHA:1394	Cerebrofaciothoracic dysplasia	HP:0040283 - Occasional		6
HP:0000177	HP:0000288	Abnormality of the philtrum	1	TMCO1 CL E G H	54499	18188	ORPHA:1394	Cerebrofaciothoracic dysplasia			6
HP:0000177	HP:0000204	Cleft upper lip	1	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome	.		6
HP:0000177	HP:0000288	Abnormality of the philtrum	1	TMEM147 CL E G H	10430	30414	OMIM:620075
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	TMEM147 CL E G H	10430	30414	OMIM:620075
HP:0000177	HP:0000288	Abnormality of the philtrum	1	TMEM237 CL E G H	65062	14432	OMIM:614424	Joubert syndrome 14			82
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	TMEM237 CL E G H	65062	14432	OMIM:614424	Joubert syndrome 14			82
HP:0000177	HP:0000288	Abnormality of the philtrum	1	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0000177	HP:0000288	Abnormality of the philtrum	1	TMEM53 CL E G H	79639	26186	OMIM:619727	CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE; CTDI
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	TMEM53 CL E G H	79639	26186	OMIM:619727	CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE; CTDI
HP:0000177	HP:0000288	Abnormality of the philtrum	1	TMEM70 CL E G H	54968	26050	OMIM:614052	Mitochondrial complex V (atp synthase) deficiency, nuclear type 2			63
HP:0000177	HP:0000288	Abnormality of the philtrum	1	TMEM70 CL E G H	54968	26050	ORPHA:1194	TMEM70-related mitochondrial encephalo-cardio-myopathy			63
HP:0000177	HP:0000288	Abnormality of the philtrum	1	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies			1
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies			1
HP:0000177	HP:0000288	Abnormality of the philtrum	1	TNNI2 CL E G H	7136	11946	OMIM:601680	Arthrogryposis, distal, type 2B			37
HP:0000177	HP:0000288	Abnormality of the philtrum	1	TNPO2 CL E G H	30000	19998	OMIM:619556	INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND DYSMORPHIC FACIES; IDDHISD
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	TNRC6B CL E G H	23112	29190	OMIM:619243	GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES; GDSBA
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	TOE1 CL E G H	114034	15954	ORPHA:284339	Pontocerebellar hypoplasia type 7			6
HP:0000177	HP:0000288	Abnormality of the philtrum	1	TOE1 CL E G H	114034	15954	OMIM:614969	Pontocerebellar hypoplasia, type 7			6
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	TOE1 CL E G H	114034	15954	OMIM:614969	Pontocerebellar hypoplasia, type 7			6
HP:0000177	HP:0000288	Abnormality of the philtrum	1	TOR1A CL E G H	1861	3098	OMIM:618947	ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5			47
HP:0000177	HP:0000204	Cleft upper lip	1	TP63 CL E G H	8626	15979	ORPHA:1072	Ankyloblepharon filiforme adnatum-cleft palate syndrome			140
HP:0000177	HP:0000204	Cleft upper lip	1	TP63 CL E G H	8626	15979	OMIM:106260	Ankyloblepharon-Ectodermal defects-cleft lip/palate	.		140
HP:0000177	HP:0000204	Cleft upper lip	1	TP63 CL E G H	8626	15979	ORPHA:199302	Isolated cleft lip			140
HP:0000177	HP:0000204	Cleft upper lip	1	TP63 CL E G H	8626	15979	OMIM:129400	Rapp-Hodgkin syndrome	.		140
HP:0000177	HP:0000288	Abnormality of the philtrum	1	TPM3 CL E G H	7170	12012	ORPHA:171433	Intermediate nemaline myopathy			108
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	TRAPPC10 CL E G H	7109	11868	ORPHA:2512	Autosomal recessive primary microcephaly			1
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	TRAPPC14 CL E G H	55262	25604	ORPHA:2512	Autosomal recessive primary microcephaly
HP:0000177	HP:0000288	Abnormality of the philtrum	1	TRAPPC4 CL E G H	51399	19943	OMIM:618741	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, SPASTICITY, AND BRAIN ATROPHY; NEDESBA			1
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	TRAPPC9 CL E G H	83696	30832	ORPHA:352530	Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome			158
HP:0000177	HP:0000204	Cleft upper lip	1	TRAPPC9 CL E G H	83696	30832	OMIM:613192	Mental retardation, autosomal recessive 13	HP:0040283 - Occasional		158
HP:0000177	HP:0000288	Abnormality of the philtrum	1	TRAPPC9 CL E G H	83696	30832	OMIM:613192	Mental retardation, autosomal recessive 13			158
HP:0000177	HP:0000288	Abnormality of the philtrum	1	TRIM8 CL E G H	81603	15579	OMIM:619428	FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME; FSGSNEDS			1
HP:0000177	HP:0000288	Abnormality of the philtrum	1	TRIO CL E G H	7204	12303	OMIM:618825	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY; MRD63			8
HP:0000177	HP:0000288	Abnormality of the philtrum	1	TRIO CL E G H	7204	12303	OMIM:617061	Mental retardation, autosomal dominant 44			8
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	TRIO CL E G H	7204	12303	OMIM:617061	Mental retardation, autosomal dominant 44			8
HP:0000177	HP:0000288	Abnormality of the philtrum	1	TRIO CL E G H	7204	12303	ORPHA:476126	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome			8
HP:0000177	HP:0000288	Abnormality of the philtrum	1	TRIP11 CL E G H	9321	12305	ORPHA:93299	Achondrogenesis type 1A			133
HP:0000177	HP:0000288	Abnormality of the philtrum	1	TRIP11 CL E G H	9321	12305	OMIM:184260	Osteochondrodysplasia			133
HP:0000177	HP:0000288	Abnormality of the philtrum	1	TRIP12 CL E G H	9320	12306	OMIM:617752	Mental retardation, autosomal dominant 49			2
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	TRIP12 CL E G H	9320	12306	OMIM:617752	Mental retardation, autosomal dominant 49			2
HP:0000177	HP:0000288	Abnormality of the philtrum	1	TRMT10A CL E G H	93587	28403	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome			7
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	TRMT10A CL E G H	93587	28403	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome			7
HP:0000177	HP:0000288	Abnormality of the philtrum	1	TRPS1 CL E G H	7227	12340	ORPHA:77258	Trichorhinophalangeal syndrome type 1 and 3			171
HP:0000177	HP:0011341	Long upper lip	1	TRPS1 CL E G H	7227	12340	ORPHA:77258	Trichorhinophalangeal syndrome type 1 and 3	HP:0040281 - Very frequent		171
HP:0000177	HP:0000288	Abnormality of the philtrum	1	TRPS1 CL E G H	7227	12340	ORPHA:502	Trichorhinophalangeal syndrome type 2			171
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	TRPS1 CL E G H	7227	12340	ORPHA:502	Trichorhinophalangeal syndrome type 2			171
HP:0000177	HP:0000288	Abnormality of the philtrum	1	TRPS1 CL E G H	7227	12340	OMIM:190350	Trichorhinophalangeal syndrome, type I			171
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	TRPS1 CL E G H	7227	12340	OMIM:190350	Trichorhinophalangeal syndrome, type I			171
HP:0000177	HP:0000288	Abnormality of the philtrum	1	TRPS1 CL E G H	7227	12340	OMIM:190351	Trichorhinophalangeal syndrome, type III			171
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	TRPS1 CL E G H	7227	12340	OMIM:190351	Trichorhinophalangeal syndrome, type III			171
HP:0000177	HP:0000288	Abnormality of the philtrum	1	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism			2
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism			2
HP:0000177	HP:0000288	Abnormality of the philtrum	1	TSPAN7 CL E G H	7102	11854	OMIM:300210	MENTAL RETARDATION, X-LINKED 58; MRX58			26
HP:0000177	HP:0000288	Abnormality of the philtrum	1	TTC5 CL E G H	91875	19274	OMIM:619244	NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM; NEDCAFD
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	TTC5 CL E G H	91875	19274	OMIM:619244	NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM; NEDCAFD
HP:0000177	HP:0000288	Abnormality of the philtrum	1	TUBB CL E G H	203068	20778	ORPHA:2505	Multiple benign circumferential skin creases on limbs			14
HP:0000177	HP:0000288	Abnormality of the philtrum	1	TUBGCP2 CL E G H	10844	18599	OMIM:618737	PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES; PAMDDFS
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	TUBGCP2 CL E G H	10844	18599	OMIM:618737	PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES; PAMDDFS
HP:0000177	HP:0000288	Abnormality of the philtrum	1	TWIST1 CL E G H	7291	12428	OMIM:617746	Sweeney-Cox syndrome			18
HP:0000177	HP:0000188	Short upper lip	1	TWIST2 CL E G H	117581	20670	OMIM:200110	Ablepharon-Macrostomia syndrome	HP:0040283 - Occasional		7
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	TWIST2 CL E G H	117581	20670	OMIM:227260	FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE; FFDD3			7
HP:0000177	HP:0000288	Abnormality of the philtrum	1	TWIST2 CL E G H	117581	20670	ORPHA:1807	Focal facial dermal dysplasia type III			7
HP:0000177	HP:0000204	Cleft upper lip	1	TXNL4A CL E G H	10907	30551	OMIM:608572	Burn-Mckeown syndrome	.		19
HP:0000177	HP:0000288	Abnormality of the philtrum	1	TXNL4A CL E G H	10907	30551	OMIM:608572	Burn-Mckeown syndrome			19
HP:0000177	HP:0000288	Abnormality of the philtrum	1	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type			7
HP:0000177	HP:0000288	Abnormality of the philtrum	1	UBE3B CL E G H	89910	13478	OMIM:244450	Kaufman oculocerebrofacial syndrome			13
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	UBE3B CL E G H	89910	13478	OMIM:244450	Kaufman oculocerebrofacial syndrome			13
HP:0000177	HP:0000288	Abnormality of the philtrum	1	UBE3B CL E G H	89910	13478	ORPHA:2707	Oculocerebrofacial syndrome, Kaufman type			13
HP:0000177	HP:0000288	Abnormality of the philtrum	1	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome
HP:0000177	HP:0000288	Abnormality of the philtrum	1	UBR7 CL E G H	55148	20344	OMIM:619189	LI-CAMPEAU SYNDROME; LICAS			1
HP:0000177	HP:0000288	Abnormality of the philtrum	1	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome
HP:0000177	HP:0000288	Abnormality of the philtrum	1	UGDH CL E G H	7358	12525	OMIM:618792	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84; DEE84
HP:0000177	HP:0000288	Abnormality of the philtrum	1	UGP2 CL E G H	7360	12527	OMIM:618744	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83
HP:0000177	HP:0000288	Abnormality of the philtrum	1	UNC80 CL E G H	285175	26582	OMIM:616801	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2			23
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	UNC80 CL E G H	285175	26582	OMIM:616801	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2			23
HP:0000177	HP:0000288	Abnormality of the philtrum	1	UNC80 CL E G H	285175	26582	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome			23
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	UNC80 CL E G H	285175	26582	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome			23
HP:0000177	HP:0000288	Abnormality of the philtrum	1	UPF3B CL E G H	65109	20439	ORPHA:776	Lujan-Fryns syndrome			33
HP:0000177	HP:0000288	Abnormality of the philtrum	1	USB1 CL E G H	79650	25792	OMIM:604173	Poikiloderma with neutropenia			8
HP:0000177	HP:0000288	Abnormality of the philtrum	1	USP9X CL E G H	8239	12632	OMIM:300968	Mental retardation, X-linked 99, syndromic, female-restricted			27
HP:0000177	HP:0000288	Abnormality of the philtrum	1	USP9X CL E G H	8239	12632	ORPHA:480880	X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability			27
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	USP9X CL E G H	8239	12632	ORPHA:480880	X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability			27
HP:0000177	HP:0000188	Short upper lip	1	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome	HP:0040282 - Frequent		6
HP:0000177	HP:0000288	Abnormality of the philtrum	1	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome			6
HP:0000177	HP:0000204	Cleft upper lip	1	VAX1 CL E G H	11023	12660	OMIM:614402	Microphthalmia, syndromic 11	.		5
HP:0000177	HP:0000288	Abnormality of the philtrum	1	VPS13B CL E G H	157680	2183	OMIM:216550	Cohen syndrome			546
HP:0000177	HP:0000288	Abnormality of the philtrum	1	VPS13B CL E G H	157680	2183	ORPHA:193	Cohen syndrome			546
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	VPS35L CL E G H	57020	24641	OMIM:619135	RITSCHER-SCHINZEL SYNDROME 3; RTSC3
HP:0000177	HP:0000288	Abnormality of the philtrum	1	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0000177	HP:0000288	Abnormality of the philtrum	1	VPS51 CL E G H	738	1172	OMIM:618606	PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	VPS51 CL E G H	738	1172	OMIM:618606	PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	WAC CL E G H	51322	17327	OMIM:616708	Desanto-Shinawi syndrome			20
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	WAC CL E G H	51322	17327	ORPHA:284169	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion			20
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	WAC CL E G H	51322	17327	ORPHA:466950	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation			20
HP:0000177	HP:0000288	Abnormality of the philtrum	1	WARS2 CL E G H	10352	12730	OMIM:617710	Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures			2
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	WARS2 CL E G H	10352	12730	ORPHA:572798	WARS2-related combined oxidative phosphorylation defect			2
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	WASHC4 CL E G H	23325	29174	OMIM:615817	Mental retardation, autosomal recessive 43			25
HP:0000177	HP:0000288	Abnormality of the philtrum	1	WDR19 CL E G H	57728	18340	OMIM:614378	Cranioectodermal dysplasia 4			95
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	WDR19 CL E G H	57728	18340	OMIM:614376	Short-Rib thoracic dysplasia 5 with or without polydactyly			95
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	WDR26 CL E G H	80232	21208	ORPHA:513456	Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome			8
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	WDR26 CL E G H	80232	21208	OMIM:617616	Skraban-Deardorff syndrome			8
HP:0000177	HP:0000288	Abnormality of the philtrum	1	WDR35 CL E G H	57539	29250	OMIM:613610	Cranioectodermal dysplasia 2			136
HP:0000177	HP:0000204	Cleft upper lip	1	WDR35 CL E G H	57539	29250	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040282 - Frequent		136
HP:0000177	HP:0000288	Abnormality of the philtrum	1	WDR35 CL E G H	57539	29250	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type			136
HP:0000177	HP:0000288	Abnormality of the philtrum	1	WDR37 CL E G H	22884	31406	OMIM:618652	NEUROOCULOCARDIOGENITOURINARY SYNDROME; NOCGUS
HP:0000177	HP:0000288	Abnormality of the philtrum	1	WDR4 CL E G H	10785	12756	OMIM:618346	Microcephaly, growth deficiency, seizures, and brain malformations
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	WDR4 CL E G H	10785	12756	OMIM:618346	Microcephaly, growth deficiency, seizures, and brain malformations
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	WDR62 CL E G H	284403	24502	ORPHA:2512	Autosomal recessive primary microcephaly			224
HP:0000177	HP:0000204	Cleft upper lip	1	WLS CL E G H	79971	30238	OMIM:619648	ZAKI SYNDROME; ZKS
HP:0000177	HP:0000288	Abnormality of the philtrum	1	WLS CL E G H	79971	30238	OMIM:619648	ZAKI SYNDROME; ZKS
HP:0000177	HP:0000204	Cleft upper lip	1	WNT3 CL E G H	7473	12782	OMIM:273395	Tetraamelia, autosomal recessive	.		12
HP:0000177	HP:0000288	Abnormality of the philtrum	1	WNT4 CL E G H	54361	12783	ORPHA:247768	Müllerian aplasia and hyperandrogenism			4
HP:0000177	HP:0000204	Cleft upper lip	1	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome			98
HP:0000177	HP:0000288	Abnormality of the philtrum	1	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome			98
HP:0000177	HP:0000288	Abnormality of the philtrum	1	WNT5A CL E G H	7474	12784	OMIM:180700	Robinow syndrome, autosomal dominant 1			98
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	WNT5A CL E G H	7474	12784	OMIM:180700	Robinow syndrome, autosomal dominant 1			98
HP:0000177	HP:0000204	Cleft upper lip	1	WNT9B CL E G H	7484	12779	ORPHA:1848	Renal agenesis, bilateral
HP:0000177	HP:0000288	Abnormality of the philtrum	1	XYLT1 CL E G H	64131	15516	OMIM:615777	Desbuquois dysplasia 2			14
HP:0000177	HP:0000288	Abnormality of the philtrum	1	XYLT1 CL E G H	64131	15516	ORPHA:370930	XYLT1-CDG			14
HP:0000177	HP:0000288	Abnormality of the philtrum	1	XYLT2 CL E G H	64132	15517	ORPHA:85194	Spondylo-ocular syndrome			5
HP:0000177	HP:0000204	Cleft upper lip	1	YAP1 CL E G H	10413	16262	OMIM:120433	Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation	HP:0040283 - Occasional		2
HP:0000177	HP:0000204	Cleft upper lip	1	YAP1 CL E G H	10413	16262	ORPHA:1473	Uveal coloboma-cleft lip and palate-intellectual disability			2
HP:0000177	HP:0000288	Abnormality of the philtrum	1	YARS2 CL E G H	51067	24249	ORPHA:2598	Mitochondrial myopathy and sideroblastic anemia			45
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome	HP:0040282 - Frequent		7
HP:0000177	HP:0000288	Abnormality of the philtrum	1	ZBTB18 CL E G H	10472	13030	ORPHA:36367	Distal monosomy 1q			16
HP:0000177	HP:0000288	Abnormality of the philtrum	1	ZBTB18 CL E G H	10472	13030	OMIM:612337	Mental retardation, autosomal dominant 22			16
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	ZBTB18 CL E G H	10472	13030	OMIM:612337	Mental retardation, autosomal dominant 22			16
HP:0000177	HP:0000288	Abnormality of the philtrum	1	ZC4H2 CL E G H	55906	24931	OMIM:314580	Wieacker-Wolff syndrome			19
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	ZC4H2 CL E G H	55906	24931	OMIM:314580	Wieacker-Wolff syndrome			19
HP:0000177	HP:0000288	Abnormality of the philtrum	1	ZC4H2 CL E G H	55906	24931	OMIM:301041	WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR			19
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	ZC4H2 CL E G H	55906	24931	OMIM:301041	WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR			19
HP:0000177	HP:0000288	Abnormality of the philtrum	1	ZDHHC9 CL E G H	51114	18475	ORPHA:776	Lujan-Fryns syndrome			10
HP:0000177	HP:0000288	Abnormality of the philtrum	1	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation			362
HP:0000177	HP:0000288	Abnormality of the philtrum	1	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22			362
HP:0000177	HP:0000204	Cleft upper lip	1	ZIC2 CL E G H	7546	12873	ORPHA:93925	Alobar holoprosencephaly			34
HP:0000177	HP:0000288	Abnormality of the philtrum	1	ZIC2 CL E G H	7546	12873	OMIM:609637	Holoprosencephaly 5			34
HP:0000177	HP:0000204	Cleft upper lip	1	ZIC2 CL E G H	7546	12873	ORPHA:93924	Lobar holoprosencephaly			34
HP:0000177	HP:0000288	Abnormality of the philtrum	1	ZIC2 CL E G H	7546	12873	ORPHA:280200	Microform holoprosencephaly			34
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	ZIC2 CL E G H	7546	12873	ORPHA:280200	Microform holoprosencephaly			34
HP:0000177	HP:0000204	Cleft upper lip	1	ZIC2 CL E G H	7546	12873	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			34
HP:0000177	HP:0000204	Cleft upper lip	1	ZIC2 CL E G H	7546	12873	ORPHA:220386	Semilobar holoprosencephaly			34
HP:0000177	HP:0000288	Abnormality of the philtrum	1	ZMIZ1 CL E G H	57178	16493	OMIM:618659	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	ZMIZ1 CL E G H	57178	16493	OMIM:618659	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA
HP:0000177	HP:0000288	Abnormality of the philtrum	1	ZNF148 CL E G H	7707	12933	OMIM:617260	Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies			4
HP:0000177	HP:0000288	Abnormality of the philtrum	1	ZNF292 CL E G H	23036	18410	OMIM:619188	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64; MRD64			3
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	ZNF292 CL E G H	23036	18410	OMIM:619188	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64; MRD64			3
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	ZNF407 CL E G H	55628	19904	OMIM:619557	SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES; SIMHA			68
HP:0000177	HP:0000288	Abnormality of the philtrum	1	ZNF462 CL E G H	58499	21684	OMIM:618619	WEISS-KRUSZKA SYNDROME; WSKA			4
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	ZNF462 CL E G H	58499	21684	OMIM:618619	WEISS-KRUSZKA SYNDROME; WSKA			4
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	ZNF526 CL E G H	116115	29415	OMIM:619877				24
HP:0000177	HP:0000288	Abnormality of the philtrum	1	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	ZNHIT3 CL E G H	9326	12309	OMIM:260565	Peho syndrome			1
HP:0000177	HP:0000288	Abnormality of the philtrum	1	ZPR1 CL E G H	8882	13051	OMIM:619321	GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES; GKAF
HP:0000177	HP:0000204	Cleft upper lip	1	ZSWIM6 CL E G H	57688	29316	OMIM:603671	Acromelic frontonasal dysostosis	.		5
HP:0000177	HP:0011339	Abnormality of upper lip vermillion	1	ZSWIM6 CL E G H	57688	29316	OMIM:603671	Acromelic frontonasal dysostosis			5
HP:0000177	HP:0000204	Cleft upper lip	1	ZSWIM6 CL E G H	57688	29316	ORPHA:1827	Acromelic frontonasal dysplasia			5
HP:0000177	HP:0011826	Philtrum with midline raphe	2	CL E G H
HP:0000177	HP:0011827	Malaligned philtral ridges	2	CL E G H
HP:0000177	HP:0011828	Midline sinus of philtrum	2	CL E G H
HP:0000177	HP:0000219	Thin upper lip vermilion	2	AARS1 CL E G H	16	20	OMIM:619691	TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE; TTD8
HP:0000177	HP:0000343	Long philtrum	2	AARS1 CL E G H	16	20	OMIM:619691	TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE; TTD8
HP:0000177	HP:0000319	Smooth philtrum	2	AASS CL E G H	10157	17366	ORPHA:2203	Hyperlysinemia	HP:0040283 - Occasional		15
HP:0000177	HP:0000343	Long philtrum	2	ABCC8 CL E G H	6833	59	ORPHA:79134	DEND syndrome	HP:0040283 - Occasional		245
HP:0000177	HP:0000215	Thick upper lip vermilion	2	ABCC9 CL E G H	10060	60	OMIM:239850	Hypertrichotic osteochondrodysplasia	.		254
HP:0000177	HP:0000343	Long philtrum	2	ABCC9 CL E G H	10060	60	OMIM:239850	Hypertrichotic osteochondrodysplasia	.		254
HP:0000177	HP:0000343	Long philtrum	2	ABCC9 CL E G H	10060	60	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type	HP:0040281 - Very frequent		254
HP:0000177	HP:0000219	Thin upper lip vermilion	2	ABCC9 CL E G H	10060	60	OMIM:619719	INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS			254
HP:0000177	HP:0000319	Smooth philtrum	2	ACER3 CL E G H	55331	16066	OMIM:617762	Leukodystrophy, progressive, early childhood-onset	.
HP:0000177	HP:0000343	Long philtrum	2	ACTA1 CL E G H	58	129	ORPHA:171433	Intermediate nemaline myopathy	HP:0040283 - Occasional		96
HP:0000177	HP:0000343	Long philtrum	2	ACTB CL E G H	60	132	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome	HP:0040281 - Very frequent		72
HP:0000177	HP:0000219	Thin upper lip vermilion	2	ACTB CL E G H	60	132	OMIM:243310	Baraitser-Winter syndrome 1			72
HP:0000177	HP:0000343	Long philtrum	2	ACTB CL E G H	60	132	OMIM:243310	Baraitser-Winter syndrome 1	.		72
HP:0000177	HP:0000343	Long philtrum	2	ACTG1 CL E G H	71	144	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome	HP:0040281 - Very frequent		123
HP:0000177	HP:0000219	Thin upper lip vermilion	2	ACTG1 CL E G H	71	144	OMIM:614583	Baraitser-Winter syndrome 2	.		123
HP:0000177	HP:0000343	Long philtrum	2	ACTG1 CL E G H	71	144	OMIM:614583	Baraitser-Winter syndrome 2	.		123
HP:0000177	HP:0000322	Short philtrum	2	ADAMTS3 CL E G H	9508	219	ORPHA:2136	Hennekam syndrome	HP:0040283 - Occasional		1
HP:0000177	HP:0000322	Short philtrum	2	ADAMTSL1 CL E G H	92949	14632	ORPHA:521445	Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome	HP:0040282 - Frequent
HP:0000177	HP:0010804	Tented upper lip vermilion	2	ADAMTSL1 CL E G H	92949	14632	ORPHA:521445	Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome	HP:0040282 - Frequent
HP:0000177	HP:0000319	Smooth philtrum	2	ADAMTSL2 CL E G H	9719	14631	OMIM:231050	Geleophysic dysplasia 1	.		72
HP:0000177	HP:0000343	Long philtrum	2	ADAMTSL2 CL E G H	9719	14631	OMIM:231050	Geleophysic dysplasia 1	.		72
HP:0000177	HP:0000219	Thin upper lip vermilion	2	ADARB1 CL E G H	104	226	OMIM:618862	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES; NEDHYMS			1
HP:0000177	HP:0000219	Thin upper lip vermilion	2	ADGRG6 CL E G H	57211	13841	OMIM:616503	Lethal congenital contracture syndrome 9	.		5
HP:0000177	HP:0000219	Thin upper lip vermilion	2	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome	HP:0040283 - Occasional		47
HP:0000177	HP:0000319	Smooth philtrum	2	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome	HP:0040283 - Occasional		47
HP:0000177	HP:0000219	Thin upper lip vermilion	2	ADNP CL E G H	23394	15766	OMIM:615873	Helsmoortel-van der Aa syndrome			47
HP:0000177	HP:0000319	Smooth philtrum	2	ADNP CL E G H	23394	15766	OMIM:615873	Helsmoortel-van der Aa syndrome	.		47
HP:0000177	HP:0000343	Long philtrum	2	ADNP CL E G H	23394	15766	OMIM:615873	Helsmoortel-van der Aa syndrome			47
HP:0000177	HP:0000219	Thin upper lip vermilion	2	ADSL CL E G H	158	291	OMIM:103050	Adenylosuccinase deficiency			118
HP:0000177	HP:0000319	Smooth philtrum	2	ADSL CL E G H	158	291	OMIM:103050	Adenylosuccinase deficiency	.		118
HP:0000177	HP:0000343	Long philtrum	2	ADSL CL E G H	158	291	OMIM:103050	Adenylosuccinase deficiency	.		118
HP:0000177	HP:0000219	Thin upper lip vermilion	2	ADSL CL E G H	158	291	ORPHA:46	Adenylosuccinate lyase deficiency	HP:0040281 - Very frequent		118
HP:0000177	HP:0000319	Smooth philtrum	2	ADSL CL E G H	158	291	ORPHA:46	Adenylosuccinate lyase deficiency	HP:0040281 - Very frequent		118
HP:0000177	HP:0000343	Long philtrum	2	ADSL CL E G H	158	291	ORPHA:46	Adenylosuccinate lyase deficiency	HP:0040281 - Very frequent		118
HP:0000177	HP:0000219	Thin upper lip vermilion	2	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS			1
HP:0000177	HP:0000319	Smooth philtrum	2	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS			1
HP:0000177	HP:0000322	Short philtrum	2	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS			1
HP:0000177	HP:0000343	Long philtrum	2	AFF4 CL E G H	27125	17869	OMIM:616368	CHOPS syndrome			6
HP:0000177	HP:0000219	Thin upper lip vermilion	2	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome	HP:0040283 - Occasional		6
HP:0000177	HP:0000343	Long philtrum	2	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome	HP:0040283 - Occasional		6
HP:0000177	HP:0000219	Thin upper lip vermilion	2	AGL CL E G H	178	321	OMIM:232400	Glycogen storage disease III	.		216
HP:0000177	HP:0000219	Thin upper lip vermilion	2	AGO2 CL E G H	27161	3263	OMIM:619149	LESSEL-KREIENKAMP SYNDROME; LESKRES
HP:0000177	HP:0000343	Long philtrum	2	ALDH6A1 CL E G H	4329	7179	OMIM:614105	Methylmalonate semialdehyde dehydrogenase deficiency	.		35
HP:0000177	HP:0010804	Tented upper lip vermilion	2	ALDH6A1 CL E G H	4329	7179	OMIM:614105	Methylmalonate semialdehyde dehydrogenase deficiency	.		35
HP:0000177	HP:0000343	Long philtrum	2	ALG11 CL E G H	440138	32456	ORPHA:280071	ALG11-CDG	HP:0040283 - Occasional		41
HP:0000177	HP:0000219	Thin upper lip vermilion	2	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG	HP:0040283 - Occasional		68
HP:0000177	HP:0000322	Short philtrum	2	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG	HP:0040283 - Occasional		68
HP:0000177	HP:0000219	Thin upper lip vermilion	2	ALG12 CL E G H	79087	19358	OMIM:607143	Congenital disorder of glycosylation, type Ig	.		68
HP:0000177	HP:0000322	Short philtrum	2	ALG12 CL E G H	79087	19358	OMIM:607143	Congenital disorder of glycosylation, type Ig			68
HP:0000177	HP:0000343	Long philtrum	2	ALG13 CL E G H	79868	30881	ORPHA:324422	ALG13-CDG	HP:0040282 - Frequent		96
HP:0000177	HP:0000343	Long philtrum	2	ALG8 CL E G H	79053	23161	OMIM:608104	Congenital disorder of glycosylation, type Ih	.		46
HP:0000177	HP:0000219	Thin upper lip vermilion	2	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG	HP:0040283 - Occasional		93
HP:0000177	HP:0000319	Smooth philtrum	2	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG	HP:0040283 - Occasional		93
HP:0000177	HP:0000343	Long philtrum	2	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG	HP:0040283 - Occasional		93
HP:0000177	HP:0000343	Long philtrum	2	ALG9 CL E G H	79796	15672	OMIM:608776	Congenital disorder of glycosylation, type Il	.		93
HP:0000177	HP:0000319	Smooth philtrum	2	ALG9 CL E G H	79796	15672	OMIM:263210	Gillessen-Kaesbach-Nishimura syndrome			93
HP:0000177	HP:0000161	Median cleft lip	2	ALX3 CL E G H	257	449	OMIM:136760	Frontonasal dysplasia 1	.		9
HP:0000177	HP:0000289	Broad philtrum	2	ALX4 CL E G H	60529	450	OMIM:613451	Frontonasal dysplasia 2			132
HP:0000177	HP:0000289	Broad philtrum	2	ALX4 CL E G H	60529	450	ORPHA:228390	Frontonasal dysplasia-alopecia-genital anomalies syndrome	HP:0040281 - Very frequent		132
HP:0000177	HP:0000322	Short philtrum	2	ALX4 CL E G H	60529	450	ORPHA:52022	Potocki-Shaffer syndrome	HP:0040282 - Frequent		132
HP:0000177	HP:0000219	Thin upper lip vermilion	2	AMMECR1 CL E G H	9949	467	OMIM:300990	Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis			2
HP:0000177	HP:0000219	Thin upper lip vermilion	2	ANKLE2 CL E G H	23141	29101	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent		3
HP:0000177	HP:0000319	Smooth philtrum	2	ANKRD11 CL E G H	29123	21316	ORPHA:261250	16q24.3 microdeletion syndrome	HP:0040282 - Frequent		102
HP:0000177	HP:0000343	Long philtrum	2	ANKRD11 CL E G H	29123	21316	ORPHA:261250	16q24.3 microdeletion syndrome	HP:0040282 - Frequent		102
HP:0000177	HP:0000219	Thin upper lip vermilion	2	ANKRD11 CL E G H	29123	21316	ORPHA:2332	KBG syndrome	HP:0040282 - Frequent		102
HP:0000177	HP:0000343	Long philtrum	2	ANKRD11 CL E G H	29123	21316	ORPHA:2332	KBG syndrome	HP:0040282 - Frequent		102
HP:0000177	HP:0000343	Long philtrum	2	ANKRD11 CL E G H	29123	21316	OMIM:148050	Kbg syndrome	.		102
HP:0000177	HP:0010804	Tented upper lip vermilion	2	ANKRD11 CL E G H	29123	21316	OMIM:148050	Kbg syndrome			102
HP:0000177	HP:0000219	Thin upper lip vermilion	2	ANKRD17 CL E G H	26057	23575	OMIM:619504	CHOPRA-AMIEL-GORDON SYNDROME; CAGS			2
HP:0000177	HP:0000319	Smooth philtrum	2	ANKRD17 CL E G H	26057	23575	OMIM:619504	CHOPRA-AMIEL-GORDON SYNDROME; CAGS			2
HP:0000177	HP:0000322	Short philtrum	2	ANKRD17 CL E G H	26057	23575	OMIM:619504	CHOPRA-AMIEL-GORDON SYNDROME; CAGS			2
HP:0000177	HP:0000289	Broad philtrum	2	ANO1 CL E G H	55107	21625	OMIM:620045
HP:0000177	HP:0000343	Long philtrum	2	ANTXR1 CL E G H	84168	21014	ORPHA:2067	GAPO syndrome	HP:0040281 - Very frequent		8
HP:0000177	HP:0000343	Long philtrum	2	AP1G1 CL E G H	164	555	OMIM:619467	USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT; USRISD
HP:0000177	HP:0000322	Short philtrum	2	AP1S2 CL E G H	8905	560	ORPHA:85335	Fried syndrome	HP:0040282 - Frequent		13
HP:0000177	HP:0000219	Thin upper lip vermilion	2	AP2M1 CL E G H	1173	564	OMIM:618587	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 60, WITH SEIZURES; MRD60
HP:0000177	HP:0000219	Thin upper lip vermilion	2	AP2M1 CL E G H	1173	564	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040284 - Very rare
HP:0000177	HP:0000289	Broad philtrum	2	AP2M1 CL E G H	1173	564	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040284 - Very rare
HP:0000177	HP:0000343	Long philtrum	2	AP2M1 CL E G H	1173	564	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040284 - Very rare
HP:0000177	HP:0000219	Thin upper lip vermilion	2	AP3B1 CL E G H	8546	566	OMIM:608233	Hermansky-Pudlak syndrome 2			83
HP:0000177	HP:0000319	Smooth philtrum	2	AP3B1 CL E G H	8546	566	OMIM:608233	Hermansky-Pudlak syndrome 2	.		83
HP:0000177	HP:0000343	Long philtrum	2	AP3B1 CL E G H	8546	566	OMIM:608233	Hermansky-Pudlak syndrome 2			83
HP:0000177	HP:0000319	Smooth philtrum	2	AP3D1 CL E G H	8943	568	OMIM:617050	HERMANSKY-PUDLAK SYNDROME 10; HPS10			1
HP:0000177	HP:0000322	Short philtrum	2	AP4B1 CL E G H	10717	572	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia	HP:0040283 - Occasional		49
HP:0000177	HP:0010803	Everted upper lip vermilion	2	AP4B1 CL E G H	10717	572	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia	HP:0040283 - Occasional		49
HP:0000177	HP:0000322	Short philtrum	2	AP4B1 CL E G H	10717	572	OMIM:614066	Spastic paraplegia 47, autosomal recessive	.		49
HP:0000177	HP:0000322	Short philtrum	2	AP4E1 CL E G H	23431	573	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia	HP:0040283 - Occasional		48
HP:0000177	HP:0010803	Everted upper lip vermilion	2	AP4E1 CL E G H	23431	573	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia	HP:0040283 - Occasional		48
HP:0000177	HP:0000322	Short philtrum	2	AP4E1 CL E G H	23431	573	OMIM:613744	Spastic paraplegia 51, autosomal recessive	.		48
HP:0000177	HP:0000322	Short philtrum	2	AP4M1 CL E G H	9179	574	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia	HP:0040283 - Occasional		41
HP:0000177	HP:0010803	Everted upper lip vermilion	2	AP4M1 CL E G H	9179	574	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia	HP:0040283 - Occasional		41
HP:0000177	HP:0000322	Short philtrum	2	AP4M1 CL E G H	9179	574	OMIM:612936	Spastic paraplegia 50, autosomal recessive	.		41
HP:0000177	HP:0000322	Short philtrum	2	AP4S1 CL E G H	11154	575	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia	HP:0040283 - Occasional		18
HP:0000177	HP:0010803	Everted upper lip vermilion	2	AP4S1 CL E G H	11154	575	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia	HP:0040283 - Occasional		18
HP:0000177	HP:0000322	Short philtrum	2	AP4S1 CL E G H	11154	575	OMIM:614067	Spastic paraplegia 52, autosomal recessive	.		18
HP:0000177	HP:0000322	Short philtrum	2	APC CL E G H	324	583	ORPHA:3258	Cenani-Lenz syndrome	HP:0040283 - Occasional		3179
HP:0000177	HP:0000215	Thick upper lip vermilion	2	APC CL E G H	324	583	ORPHA:261584	Familial adenomatous polyposis due to 5q22.2 microdeletion	HP:0040282 - Frequent		3179
HP:0000177	HP:0000343	Long philtrum	2	APC CL E G H	324	583	ORPHA:261584	Familial adenomatous polyposis due to 5q22.2 microdeletion	HP:0040282 - Frequent		3179
HP:0000177	HP:0000219	Thin upper lip vermilion	2	ARHGEF2 CL E G H	9181	682	OMIM:617523	Neurodevelopmental disorder with midbrain and hindbrain malformations	.		1
HP:0000177	HP:0000343	Long philtrum	2	ARHGEF2 CL E G H	9181	682	OMIM:617523	Neurodevelopmental disorder with midbrain and hindbrain malformations	.		1
HP:0000177	HP:0000219	Thin upper lip vermilion	2	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		88
HP:0000177	HP:0000289	Broad philtrum	2	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		88
HP:0000177	HP:0000322	Short philtrum	2	ARID1A CL E G H	8289	11110	OMIM:614607	Coffin-Siris syndrome 2			88
HP:0000177	HP:0000343	Long philtrum	2	ARID1A CL E G H	8289	11110	OMIM:614607	Coffin-Siris syndrome 2			88
HP:0000177	HP:0000343	Long philtrum	2	ARID1B CL E G H	57492	18040	ORPHA:251056	6q25 microdeletion syndrome	HP:0040283 - Occasional		219
HP:0000177	HP:0000219	Thin upper lip vermilion	2	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		219
HP:0000177	HP:0000289	Broad philtrum	2	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		219
HP:0000177	HP:0000219	Thin upper lip vermilion	2	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1			219
HP:0000177	HP:0000322	Short philtrum	2	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1	.		219
HP:0000177	HP:0000343	Long philtrum	2	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1			219
HP:0000177	HP:0000219	Thin upper lip vermilion	2	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		25
HP:0000177	HP:0000289	Broad philtrum	2	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		25
HP:0000177	HP:0000322	Short philtrum	2	ARID2 CL E G H	196528	18037	OMIM:617808	Coffin-siris syndrome 6	.		25
HP:0000177	HP:0002002	Deep philtrum	2	ARID2 CL E G H	196528	18037	OMIM:617808	Coffin-siris syndrome 6	.		25
HP:0000177	HP:0000343	Long philtrum	2	ARSK CL E G H	153642	25239	OMIM:619698	MUCOPOLYSACCHARIDOSIS, TYPE X; MPS10
HP:0000177	HP:0000322	Short philtrum	2	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		1
HP:0000177	HP:0000343	Long philtrum	2	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent		1
HP:0000177	HP:0000219	Thin upper lip vermilion	2	ARX CL E G H	170302	18060	OMIM:300215	Lissencephaly, X-linked, 2			166
HP:0000177	HP:0000343	Long philtrum	2	ARX CL E G H	170302	18060	OMIM:300215	Lissencephaly, X-linked, 2	.		166
HP:0000177	HP:0000319	Smooth philtrum	2	ASH1L CL E G H	55870	19088	OMIM:617796	Mental retardation, autosomal dominant 52			1
HP:0000177	HP:0000322	Short philtrum	2	ASH1L CL E G H	55870	19088	OMIM:617796	Mental retardation, autosomal dominant 52			1
HP:0000177	HP:0000219	Thin upper lip vermilion	2	ASPM CL E G H	259266	19048	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent		512
HP:0000177	HP:0000219	Thin upper lip vermilion	2	ASXL2 CL E G H	55252	23805	OMIM:617190	Shashi-Pena syndrome			7
HP:0000177	HP:0000219	Thin upper lip vermilion	2	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS			49
HP:0000177	HP:0000319	Smooth philtrum	2	ATG7 CL E G H	10533	16935	OMIM:619422	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR31			1
HP:0000177	HP:0000219	Thin upper lip vermilion	2	ATIC CL E G H	471	794	ORPHA:250977	AICA-ribosiduria	HP:0040281 - Very frequent		4
HP:0000177	HP:0000219	Thin upper lip vermilion	2	ATIC CL E G H	471	794	OMIM:608688	Aicar transformylase/imp cyclohydrolase deficiency			4
HP:0000177	HP:0000219	Thin upper lip vermilion	2	ATN1 CL E G H	1822	3033	OMIM:618494	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies	.		16
HP:0000177	HP:0000343	Long philtrum	2	ATN1 CL E G H	1822	3033	OMIM:618494	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies	.		16
HP:0000177	HP:0002263	Exaggerated cupid's bow	2	ATP1A2 CL E G H	477	800	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040283 - Occasional		239
HP:0000177	HP:0002263	Exaggerated cupid's bow	2	ATP1A3 CL E G H	478	801	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040283 - Occasional		150
HP:0000177	HP:0000319	Smooth philtrum	2	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent		140
HP:0000177	HP:0000343	Long philtrum	2	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent		140
HP:0000177	HP:0000343	Long philtrum	2	ATP6V0A2 CL E G H	23545	18481	OMIM:219200	Cutis laxa, autosomal recessive, type IIA	.		140
HP:0000177	HP:0000319	Smooth philtrum	2	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome	HP:0040281 - Very frequent		140
HP:0000177	HP:0000319	Smooth philtrum	2	ATP6V0A2 CL E G H	23545	18481	OMIM:278250	Wrinkly skin syndrome	.		140
HP:0000177	HP:0000343	Long philtrum	2	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome	HP:0040281 - Very frequent		140
HP:0000177	HP:0000343	Long philtrum	2	ATP6V0A2 CL E G H	23545	18481	OMIM:278250	Wrinkly skin syndrome	.		140
HP:0000177	HP:0000319	Smooth philtrum	2	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent		3
HP:0000177	HP:0000343	Long philtrum	2	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent		3
HP:0000177	HP:0000219	Thin upper lip vermilion	2	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome	HP:0040282 - Frequent		5
HP:0000177	HP:0000343	Long philtrum	2	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome	HP:0040281 - Very frequent		5
HP:0000177	HP:0002002	Deep philtrum	2	ATP6V1B2 CL E G H	526	854	OMIM:616455	Zimmermann-Laband syndrome 2	.		5
HP:0000177	HP:0000319	Smooth philtrum	2	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent		2
HP:0000177	HP:0000343	Long philtrum	2	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent		2
HP:0000177	HP:0000343	Long philtrum	2	ATP6V1E1 CL E G H	529	857	OMIM:617402	Cutis laxa, autosomal recessive, type IIC	.		2
HP:0000177	HP:0000343	Long philtrum	2	ATP7A CL E G H	538	869	OMIM:304150	Occipital horn syndrome	.		192
HP:0000177	HP:0000343	Long philtrum	2	ATP7A CL E G H	538	869	ORPHA:198	Occipital horn syndrome	HP:0040282 - Frequent		192
HP:0000177	HP:0010804	Tented upper lip vermilion	2	ATRX CL E G H	546	886	ORPHA:847	Alpha-thalassemia-X-linked intellectual disability syndrome	HP:0040282 - Frequent		169
HP:0000177	HP:0010806	U-Shaped upper lip vermilion	2	ATRX CL E G H	546	886	ORPHA:847	Alpha-thalassemia-X-linked intellectual disability syndrome	HP:0040282 - Frequent		169
HP:0000177	HP:0010806	U-Shaped upper lip vermilion	2	ATRX CL E G H	546	886	OMIM:301040	Alpha-Thalassemia/mental retardation syndrome, X-linked	.		169
HP:0000177	HP:0000219	Thin upper lip vermilion	2	ATRX CL E G H	546	886	OMIM:309580	Mental retardation-hypotonic facies syndrome, X-linked, 1	.		169
HP:0000177	HP:0005326	Hypoplastic philtrum	2	ATRX CL E G H	546	886	OMIM:309580	Mental retardation-hypotonic facies syndrome, X-linked, 1	.		169
HP:0000177	HP:0010804	Tented upper lip vermilion	2	ATRX CL E G H	546	886	OMIM:309580	Mental retardation-hypotonic facies syndrome, X-linked, 1	.		169
HP:0000177	HP:0010806	U-Shaped upper lip vermilion	2	ATRX CL E G H	546	886	OMIM:309580	Mental retardation-hypotonic facies syndrome, X-linked, 1	.		169
HP:0000177	HP:0000322	Short philtrum	2	AUTS2 CL E G H	26053	14262	ORPHA:352490	Autism spectrum disorder due to AUTS2 deficiency	HP:0040282 - Frequent		61
HP:0000177	HP:0000322	Short philtrum	2	AUTS2 CL E G H	26053	14262	OMIM:615834	Mental retardation, autosomal dominant 26	.		61
HP:0000177	HP:0002002	Deep philtrum	2	AUTS2 CL E G H	26053	14262	OMIM:615834	Mental retardation, autosomal dominant 26			61
HP:0000177	HP:0000343	Long philtrum	2	AVP CL E G H	551	894	OMIM:125700	Diabetes insipidus, Neurohypophyseal type	.		22
HP:0000177	HP:0000343	Long philtrum	2	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome	HP:0040282 - Frequent		38
HP:0000177	HP:0100335	Non-midline cleft lip	2	B3GALT6 CL E G H	126792	17978	ORPHA:2725	Eye defects-arachnodactyly-cardiopathy syndrome	HP:0040281 - Very frequent		38
HP:0000177	HP:0000343	Long philtrum	2	B3GALT6 CL E G H	126792	17978	OMIM:271640	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures	.		38
HP:0000177	HP:0000343	Long philtrum	2	B3GAT3 CL E G H	26229	923	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects			5
HP:0000177	HP:0000219	Thin upper lip vermilion	2	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome	HP:0040281 - Very frequent		36
HP:0000177	HP:0000343	Long philtrum	2	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome	HP:0040281 - Very frequent		36
HP:0000177	HP:0002263	Exaggerated cupid's bow	2	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome	HP:0040281 - Very frequent		36
HP:0000177	HP:0000219	Thin upper lip vermilion	2	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome	.		36
HP:0000177	HP:0000343	Long philtrum	2	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome	.		36
HP:0000177	HP:0002263	Exaggerated cupid's bow	2	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome	.		36
HP:0000177	HP:0000219	Thin upper lip vermilion	2	B4GALT1 CL E G H	2683	924	ORPHA:79332	B4GALT1-CDG			85
HP:0000177	HP:0000343	Long philtrum	2	B4GALT1 CL E G H	2683	924	ORPHA:79332	B4GALT1-CDG			85
HP:0000177	HP:0000343	Long philtrum	2	BAP1 CL E G H	8314	950	OMIM:619762	KURY-ISIDOR SYNDROME; KURIS			184
HP:0000177	HP:0010804	Tented upper lip vermilion	2	BAP1 CL E G H	8314	950	OMIM:619762	KURY-ISIDOR SYNDROME; KURIS			184
HP:0000177	HP:0000343	Long philtrum	2	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000177	HP:0000322	Short philtrum	2	BCAS3 CL E G H	54828	14347	OMIM:619641	HENGEL-MAROOFIAN-SCHOLS SYNDROME; HEMARS			2
HP:0000177	HP:0000219	Thin upper lip vermilion	2	BCL11A CL E G H	53335	13221	OMIM:617101	Intellectual developmental disorder with persistence of fetal hemoglobin	.		11
HP:0000177	HP:0000322	Short philtrum	2	BCL11B CL E G H	64919	13222	OMIM:617237	Immunodeficiency 49	.		3
HP:0000177	HP:0000219	Thin upper lip vermilion	2	BCL11B CL E G H	64919	13222	OMIM:618092	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES	.		3
HP:0000177	HP:0000343	Long philtrum	2	BCL11B CL E G H	64919	13222	OMIM:618092	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES	.		3
HP:0000177	HP:0000343	Long philtrum	2	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000177	HP:0000343	Long philtrum	2	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2			101
HP:0000177	HP:0000343	Long philtrum	2	BCOR CL E G H	54880	20893	ORPHA:2712	Oculofaciocardiodental syndrome	HP:0040282 - Frequent		101
HP:0000177	HP:0000219	Thin upper lip vermilion	2	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040282 - Frequent		5
HP:0000177	HP:0000319	Smooth philtrum	2	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040281 - Very frequent		5
HP:0000177	HP:0000343	Long philtrum	2	BMP1 CL E G H	649	1067	OMIM:614856	Osteogenesis imperfecta, type XIII	HP:0040283 - Occasional		49
HP:0000177	HP:0000343	Long philtrum	2	BMP2 CL E G H	650	1069	ORPHA:261295	20p12.3 microdeletion syndrome	HP:0040283 - Occasional		13
HP:0000177	HP:0000219	Thin upper lip vermilion	2	BMP2 CL E G H	650	1069	OMIM:617877	Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies	.		13
HP:0000177	HP:0000343	Long philtrum	2	BMP2 CL E G H	650	1069	OMIM:617877	Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies	.		13
HP:0000177	HP:0000219	Thin upper lip vermilion	2	BPTF CL E G H	2186	3581	ORPHA:529962	17q24.2 microdeletion syndrome	HP:0040282 - Frequent		2
HP:0000177	HP:0000322	Short philtrum	2	BPTF CL E G H	2186	3581	ORPHA:529962	17q24.2 microdeletion syndrome	HP:0040282 - Frequent		2
HP:0000177	HP:0000219	Thin upper lip vermilion	2	BPTF CL E G H	2186	3581	OMIM:617755	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES; NEDDFL			2
HP:0000177	HP:0000343	Long philtrum	2	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040282 - Frequent		276
HP:0000177	HP:0002002	Deep philtrum	2	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1	.		276
HP:0000177	HP:0000343	Long philtrum	2	BRAT1 CL E G H	221927	21701	OMIM:618056	Neurodevelopmental disorder with cerebellar atrophy and with or without seizures	.		20
HP:0000177	HP:0010804	Tented upper lip vermilion	2	BRAT1 CL E G H	221927	21701	OMIM:618056	Neurodevelopmental disorder with cerebellar atrophy and with or without seizures	.		20
HP:0000177	HP:0000215	Thick upper lip vermilion	2	BRCA1 CL E G H	672	1100	OMIM:617883	Fanconi anemia, complementation group S	.		5769
HP:0000177	HP:0000343	Long philtrum	2	BRCC3 CL E G H	79184	24185	ORPHA:280679	Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome	HP:0040282 - Frequent		8
HP:0000177	HP:0000343	Long philtrum	2	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent
HP:0000177	HP:0000343	Long philtrum	2	BRF1 CL E G H	2972	11551	ORPHA:444072	Cerebellar-facial-dental syndrome	HP:0040283 - Occasional		7
HP:0000177	HP:0000322	Short philtrum	2	BRPF1 CL E G H	7862	14255	OMIM:617333	Intellectual developmental disorder with dysmorphic facies and ptosis	.		10
HP:0000177	HP:0000343	Long philtrum	2	BRPF1 CL E G H	7862	14255	OMIM:617333	Intellectual developmental disorder with dysmorphic facies and ptosis	.		10
HP:0000177	HP:0000343	Long philtrum	2	BUB1B CL E G H	701	1149	OMIM:257300	Mosaic variegated aneuploidy syndrome 1	.		76
HP:0000177	HP:0000343	Long philtrum	2	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000177	HP:0000343	Long philtrum	2	C12ORF57 CL E G H	113246	29521	OMIM:218340	Temtamy syndrome	.		13
HP:0000177	HP:0002263	Exaggerated cupid's bow	2	CACNA1A CL E G H	773	1388	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040283 - Occasional		449
HP:0000177	HP:0000219	Thin upper lip vermilion	2	CACNA1C CL E G H	775	1390	OMIM:620029				572
HP:0000177	HP:0000219	Thin upper lip vermilion	2	CACNA1C CL E G H	775	1390	OMIM:601005	Timothy syndrome	.		572
HP:0000177	HP:0000343	Long philtrum	2	CAMK2G CL E G H	818	1463	OMIM:618522	Intellectual developmental disorder 59	.		1
HP:0000177	HP:0000343	Long philtrum	2	CAMTA1 CL E G H	23261	18806	OMIM:614756	Cerebellar ataxia, nonprogressive, with mental retardation	.		34
HP:0000177	HP:0000343	Long philtrum	2	CAMTA1 CL E G H	23261	18806	ORPHA:314647	Non-progressive cerebellar ataxia with intellectual disability	HP:0040282 - Frequent		34
HP:0000177	HP:0000319	Smooth philtrum	2	CANT1 CL E G H	124583	19721	OMIM:251450	Desbuquois dysplasia 1			85
HP:0000177	HP:0000343	Long philtrum	2	CANT1 CL E G H	124583	19721	OMIM:251450	Desbuquois dysplasia 1			85
HP:0000177	HP:0000319	Smooth philtrum	2	CASK CL E G H	8573	1497	OMIM:300749	Mental retardation and microcephaly with pontine and cerebellar hypoplasia			118
HP:0000177	HP:0000343	Long philtrum	2	CASK CL E G H	8573	1497	OMIM:300749	Mental retardation and microcephaly with pontine and cerebellar hypoplasia	.		118
HP:0000177	HP:0000343	Long philtrum	2	CASK CL E G H	8573	1497	ORPHA:163937	X-linked intellectual disability, Najm type	HP:0040282 - Frequent		118
HP:0000177	HP:0000343	Long philtrum	2	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent		3
HP:0000177	HP:0000343	Long philtrum	2	CBL CL E G H	867	1541	OMIM:613563	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia	.		317
HP:0000177	HP:0002002	Deep philtrum	2	CBL CL E G H	867	1541	OMIM:613563	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia	.		317
HP:0000177	HP:0000319	Smooth philtrum	2	CCBE1 CL E G H	147372	29426	OMIM:235510	Hennekam lymphangiectasia-lymphedema syndrome	.		147
HP:0000177	HP:0000322	Short philtrum	2	CCBE1 CL E G H	147372	29426	ORPHA:2136	Hennekam syndrome	HP:0040283 - Occasional		147
HP:0000177	HP:0000322	Short philtrum	2	CCDC22 CL E G H	28952	28909	OMIM:300963	Ritscher-Schinzel syndrome 2	.		33
HP:0000177	HP:0000343	Long philtrum	2	CCDC8 CL E G H	83987	25367	ORPHA:2616	3M syndrome	HP:0040282 - Frequent		5
HP:0000177	HP:0000343	Long philtrum	2	CCDC8 CL E G H	83987	25367	OMIM:614205	THREE M SYNDROME 3; 3M3			5
HP:0000177	HP:0000343	Long philtrum	2	CCNK CL E G H	8812	1596	OMIM:618147	Intellectual developmental disorder with hypertelorism and distinctive facies	.		3
HP:0000177	HP:0000219	Thin upper lip vermilion	2	CCNQ CL E G H	92002	28434	ORPHA:140952	Syndactyly-telecanthus-anogenital and renal malformations syndrome	HP:0040282 - Frequent		7
HP:0000177	HP:0000219	Thin upper lip vermilion	2	CCNQ CL E G H	92002	28434	OMIM:300707	Toe syndactyly, telecanthus, and anogenital and renal malformations	.		7
HP:0000177	HP:0000319	Smooth philtrum	2	CD96 CL E G H	10225	16892	ORPHA:1308	C syndrome	HP:0040281 - Very frequent		83
HP:0000177	HP:0000343	Long philtrum	2	CD96 CL E G H	10225	16892	ORPHA:1308	C syndrome	HP:0040281 - Very frequent		83
HP:0000177	HP:0000219	Thin upper lip vermilion	2	CDC42 CL E G H	998	1736	ORPHA:487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome	HP:0040283 - Occasional		6
HP:0000177	HP:0000319	Smooth philtrum	2	CDC42 CL E G H	998	1736	ORPHA:487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome	HP:0040283 - Occasional		6
HP:0000177	HP:0000322	Short philtrum	2	CDC42 CL E G H	998	1736	ORPHA:487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome	HP:0040283 - Occasional		6
HP:0000177	HP:0000343	Long philtrum	2	CDC42 CL E G H	998	1736	ORPHA:487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome	HP:0040283 - Occasional		6
HP:0000177	HP:0010804	Tented upper lip vermilion	2	CDC42 CL E G H	998	1736	ORPHA:487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome	HP:0040283 - Occasional		6
HP:0000177	HP:0000219	Thin upper lip vermilion	2	CDC42 CL E G H	998	1736	OMIM:616737	Takenouchi-Kosaki syndrome			6
HP:0000177	HP:0000319	Smooth philtrum	2	CDC42 CL E G H	998	1736	OMIM:616737	Takenouchi-Kosaki syndrome	.		6
HP:0000177	HP:0000322	Short philtrum	2	CDC42 CL E G H	998	1736	OMIM:616737	Takenouchi-Kosaki syndrome			6
HP:0000177	HP:0000343	Long philtrum	2	CDC42 CL E G H	998	1736	OMIM:616737	Takenouchi-Kosaki syndrome	.		6
HP:0000177	HP:0000219	Thin upper lip vermilion	2	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0000177	HP:0000319	Smooth philtrum	2	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0000177	HP:0000322	Short philtrum	2	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0000177	HP:0000343	Long philtrum	2	CDC6 CL E G H	990	1744	OMIM:613805	Meier-Gorlin syndrome 5	.		31
HP:0000177	HP:0100335	Non-midline cleft lip	2	CDH1 CL E G H	999	1748	ORPHA:1997	Blepharo-cheilo-odontic syndrome			1003
HP:0000177	HP:0000322	Short philtrum	2	CDH11 CL E G H	1009	1750	ORPHA:1299	Branchioskeletogenital syndrome	HP:0040282 - Frequent		2
HP:0000177	HP:0000219	Thin upper lip vermilion	2	CDH11 CL E G H	1009	1750	OMIM:211380	Elsahy-Waters syndrome	.		2
HP:0000177	HP:0000289	Broad philtrum	2	CDH11 CL E G H	1009	1750	OMIM:211380	Elsahy-Waters syndrome	.		2
HP:0000177	HP:0000343	Long philtrum	2	CDH11 CL E G H	1009	1750	OMIM:211380	Elsahy-Waters syndrome	.		2
HP:0000177	HP:0000219	Thin upper lip vermilion	2	CDH11 CL E G H	1009	1750	OMIM:619736	TEEBI HYPERTELORISM SYNDROME 2; TBHS2			2
HP:0000177	HP:0000219	Thin upper lip vermilion	2	CDH2 CL E G H	1000	1759	OMIM:618929	AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
HP:0000177	HP:0000319	Smooth philtrum	2	CDH2 CL E G H	1000	1759	OMIM:618929	AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
HP:0000177	HP:0000322	Short philtrum	2	CDH2 CL E G H	1000	1759	OMIM:618929	AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
HP:0000177	HP:0000343	Long philtrum	2	CDH2 CL E G H	1000	1759	OMIM:618929	AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
HP:0000177	HP:0000219	Thin upper lip vermilion	2	CDK10 CL E G H	8558	1770	OMIM:617694	Al Kaissi syndrome	.		2
HP:0000177	HP:0000319	Smooth philtrum	2	CDK10 CL E G H	8558	1770	OMIM:617694	Al Kaissi syndrome			2
HP:0000177	HP:0000343	Long philtrum	2	CDK10 CL E G H	8558	1770	OMIM:617694	Al Kaissi syndrome			2
HP:0000177	HP:0000215	Thick upper lip vermilion	2	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder			8
HP:0000177	HP:0000219	Thin upper lip vermilion	2	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder	.		8
HP:0000177	HP:0000319	Smooth philtrum	2	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder			8
HP:0000177	HP:0000322	Short philtrum	2	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder	.		8
HP:0000177	HP:0010806	U-Shaped upper lip vermilion	2	CDK19 CL E G H	23097	19338	OMIM:618916	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 87; DEE87
HP:0000177	HP:0000219	Thin upper lip vermilion	2	CDK5RAP2 CL E G H	55755	18672	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent		181
HP:0000177	HP:0000219	Thin upper lip vermilion	2	CDK6 CL E G H	1021	1777	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent		6
HP:0000177	HP:0002002	Deep philtrum	2	CDKL5 CL E G H	6792	11411	ORPHA:505652	CDKL5-deficiency disorder	HP:0040282 - Frequent		405
HP:0000177	HP:0000161	Median cleft lip	2	CDON CL E G H	50937	17104	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		200
HP:0000177	HP:0000161	Median cleft lip	2	CDON CL E G H	50937	17104	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		200
HP:0000177	HP:0000322	Short philtrum	2	CDON CL E G H	50937	17104	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent		200
HP:0000177	HP:0010804	Tented upper lip vermilion	2	CDON CL E G H	50937	17104	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent		200
HP:0000177	HP:0000161	Median cleft lip	2	CDON CL E G H	50937	17104	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		200
HP:0000177	HP:0000161	Median cleft lip	2	CDON CL E G H	50937	17104	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		200
HP:0000177	HP:0000219	Thin upper lip vermilion	2	CENPJ CL E G H	55835	17272	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent		161
HP:0000177	HP:0000219	Thin upper lip vermilion	2	CEP135 CL E G H	9662	29086	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent		38
HP:0000177	HP:0000219	Thin upper lip vermilion	2	CEP152 CL E G H	22995	29298	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent		146
HP:0000177	HP:0000219	Thin upper lip vermilion	2	CEP63 CL E G H	80254	25815	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent		31
HP:0000177	HP:0000319	Smooth philtrum	2	CERT1 CL E G H	10087	2205	OMIM:616351	Mental retardation, autosomal dominant 34	.
HP:0000177	HP:0000219	Thin upper lip vermilion	2	CHAMP1 CL E G H	283489	20311	OMIM:616579	Mental retardation, autosomal dominant 40			16
HP:0000177	HP:0000322	Short philtrum	2	CHAMP1 CL E G H	283489	20311	OMIM:616579	Mental retardation, autosomal dominant 40	.		16
HP:0000177	HP:0010804	Tented upper lip vermilion	2	CHAMP1 CL E G H	283489	20311	OMIM:616579	Mental retardation, autosomal dominant 40	.		16
HP:0000177	HP:0000219	Thin upper lip vermilion	2	CHD2 CL E G H	1106	1917	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040284 - Very rare		227
HP:0000177	HP:0000289	Broad philtrum	2	CHD2 CL E G H	1106	1917	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040284 - Very rare		227
HP:0000177	HP:0000343	Long philtrum	2	CHD2 CL E G H	1106	1917	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040284 - Very rare		227
HP:0000177	HP:0000322	Short philtrum	2	CHD5 CL E G H	26038	16816	OMIM:619873
HP:0000177	HP:0000343	Long philtrum	2	CHD8 CL E G H	57680	20153	OMIM:615032	AUTISM, SUSCEPTIBILITY TO, 18; AUTS18			72
HP:0000177	HP:0010804	Tented upper lip vermilion	2	CHMP1A CL E G H	5119	8740	OMIM:614961	Pontocerebellar hypoplasia, type 8			19
HP:0000177	HP:0000343	Long philtrum	2	CHRNG CL E G H	1146	1967	ORPHA:2990	Autosomal recessive multiple pterygium syndrome	HP:0040283 - Occasional		68
HP:0000177	HP:0000343	Long philtrum	2	CHRNG CL E G H	1146	1967	OMIM:265000	Multiple pterygium syndrome, escobar variant	.		68
HP:0000177	HP:0000219	Thin upper lip vermilion	2	CHST14 CL E G H	113189	24464	OMIM:601776	Ehlers-Danlos syndrome, musculocontractural type 1	.		27
HP:0000177	HP:0000343	Long philtrum	2	CHST14 CL E G H	113189	24464	OMIM:601776	Ehlers-Danlos syndrome, musculocontractural type 1	.		27
HP:0000177	HP:0000219	Thin upper lip vermilion	2	CHST14 CL E G H	113189	24464	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome	HP:0040281 - Very frequent		27
HP:0000177	HP:0000343	Long philtrum	2	CHST14 CL E G H	113189	24464	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome	HP:0040281 - Very frequent		27
HP:0000177	HP:0000343	Long philtrum	2	CHST3 CL E G H	9469	1971	ORPHA:263463	CHST3-related skeletal dysplasia	HP:0040282 - Frequent		165
HP:0000177	HP:0000343	Long philtrum	2	CHST3 CL E G H	9469	1971	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects			165
HP:0000177	HP:0000343	Long philtrum	2	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations	HP:0040282 - Frequent		165
HP:0000177	HP:0002002	Deep philtrum	2	CHSY1 CL E G H	22856	17198	OMIM:605282	Temtamy preaxial brachydactyly syndrome	.		16
HP:0000177	HP:0100335	Non-midline cleft lip	2	CHUK CL E G H	1147	1974	OMIM:619339	BARTSOCAS-PAPAS SYNDROME 2; BPS2			3
HP:0000177	HP:0000161	Median cleft lip	2	CILK1 CL E G H	22858	21219	OMIM:612651	ENDOCRINE-CEREBROOSTEODYSPLASIA
HP:0000177	HP:0000215	Thick upper lip vermilion	2	CILK1 CL E G H	22858	21219	OMIM:612651	ENDOCRINE-CEREBROOSTEODYSPLASIA
HP:0000177	HP:0100335	Non-midline cleft lip	2	CILK1 CL E G H	22858	21219	OMIM:612651	ENDOCRINE-CEREBROOSTEODYSPLASIA
HP:0000177	HP:0000219	Thin upper lip vermilion	2	CIT CL E G H	11113	1985	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent		15
HP:0000177	HP:0000322	Short philtrum	2	CKAP2L CL E G H	150468	26877	ORPHA:3255	Filippi syndrome	HP:0040282 - Frequent		7
HP:0000177	HP:0000322	Short philtrum	2	CKAP2L CL E G H	150468	26877	OMIM:272440	Filippi syndrome	.		7
HP:0000177	HP:0000343	Long philtrum	2	CLCF1 CL E G H	23529	17412	ORPHA:1545	Crisponi syndrome	HP:0040281 - Very frequent		6
HP:0000177	HP:0000322	Short philtrum	2	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA			2
HP:0000177	HP:0000343	Long philtrum	2	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA			2
HP:0000177	HP:0002263	Exaggerated cupid's bow	2	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA			2
HP:0000177	HP:0000219	Thin upper lip vermilion	2	CLCN3 CL E G H	1182	2021	OMIM:619517	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ABNORMALITIES; NEDSBA			2
HP:0000177	HP:0010804	Tented upper lip vermilion	2	CLCN3 CL E G H	1182	2021	OMIM:619517	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ABNORMALITIES; NEDSBA			2
HP:0000177	HP:0000219	Thin upper lip vermilion	2	CLCN6 CL E G H	1185	2024	OMIM:619173	NEURODEGENERATION, CHILDHOOD-ONSET, WITH HYPOTONIA, RESPIRATORY INSUFFICIENCY, AND BRAIN IMAGING ABNORMALITIES; CONRIBA
HP:0000177	HP:0000343	Long philtrum	2	CLCN6 CL E G H	1185	2024	OMIM:619173	NEURODEGENERATION, CHILDHOOD-ONSET, WITH HYPOTONIA, RESPIRATORY INSUFFICIENCY, AND BRAIN IMAGING ABNORMALITIES; CONRIBA
HP:0000177	HP:0000319	Smooth philtrum	2	CLIC2 CL E G H	1193	2063	ORPHA:324410	X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome	HP:0040283 - Occasional		4
HP:0000177	HP:0000343	Long philtrum	2	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000177	HP:0000219	Thin upper lip vermilion	2	CLP1 CL E G H	10978	16999	OMIM:615803	Pontocerebellar hypoplasia, type 10	.		7
HP:0000177	HP:0000219	Thin upper lip vermilion	2	CLTC CL E G H	1213	2092	OMIM:617854	Mental retardation, autosomal dominant 56	.		1
HP:0000177	HP:0000343	Long philtrum	2	CLTC CL E G H	1213	2092	OMIM:617854	Mental retardation, autosomal dominant 56	.		1
HP:0000177	HP:0000343	Long philtrum	2	CNOT1 CL E G H	23019	7877	OMIM:618500	Holoprosencephaly 12 with or without pancreatic agenesis	.		2
HP:0000177	HP:0000219	Thin upper lip vermilion	2	CNOT2 CL E G H	4848	7878	OMIM:618608	INTELLECTUAL DEVELOPMENTAL DISORDER WITH NASAL SPEECH, DYSMORPHIC FACIES, AND VARIABLE SKELETAL ANOMALIES; IDNADFS			2
HP:0000177	HP:0000322	Short philtrum	2	CNOT3 CL E G H	4849	7879	OMIM:618672	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF
HP:0000177	HP:0000219	Thin upper lip vermilion	2	COG1 CL E G H	9382	6545	ORPHA:263508	COG1-CDG	HP:0040282 - Frequent		52
HP:0000177	HP:0000319	Smooth philtrum	2	COG1 CL E G H	9382	6545	ORPHA:263508	COG1-CDG	HP:0040282 - Frequent		52
HP:0000177	HP:0000343	Long philtrum	2	COG1 CL E G H	9382	6545	ORPHA:263508	COG1-CDG	HP:0040283 - Occasional		52
HP:0000177	HP:0000219	Thin upper lip vermilion	2	COG1 CL E G H	9382	6545	OMIM:611209	Congenital disorder of glycosylation, type IIg	.		52
HP:0000177	HP:0000319	Smooth philtrum	2	COG1 CL E G H	9382	6545	OMIM:611209	Congenital disorder of glycosylation, type IIg	.		52
HP:0000177	HP:0000319	Smooth philtrum	2	COG7 CL E G H	91949	18622	OMIM:608779	Congenital disorder of glycosylation, type IIe	.		64
HP:0000177	HP:0000343	Long philtrum	2	COL11A1 CL E G H	1301	2186	OMIM:228520	Fibrochondrogenesis 1	.		215
HP:0000177	HP:0000215	Thick upper lip vermilion	2	COL11A1 CL E G H	1301	2186	ORPHA:560	Marshall syndrome	HP:0040281 - Very frequent		215
HP:0000177	HP:0000215	Thick upper lip vermilion	2	COL11A1 CL E G H	1301	2186	OMIM:154780	Marshall syndrome	.		215
HP:0000177	HP:0000343	Long philtrum	2	COL11A1 CL E G H	1301	2186	ORPHA:560	Marshall syndrome	HP:0040281 - Very frequent		215
HP:0000177	HP:0000343	Long philtrum	2	COL11A1 CL E G H	1301	2186	OMIM:154780	Marshall syndrome	.		215
HP:0000177	HP:0000343	Long philtrum	2	COL11A2 CL E G H	1302	2187	ORPHA:166100	Autosomal dominant otospondylomegaepiphyseal dysplasia	HP:0040281 - Very frequent		222
HP:0000177	HP:0000343	Long philtrum	2	COL2A1 CL E G H	1280	2200	OMIM:200610	Achondrogenesis, type II			284
HP:0000177	HP:0000343	Long philtrum	2	COL2A1 CL E G H	1280	2200	ORPHA:166100	Autosomal dominant otospondylomegaepiphyseal dysplasia	HP:0040281 - Very frequent		284
HP:0000177	HP:0000343	Long philtrum	2	COL2A1 CL E G H	1280	2200	ORPHA:90653	Stickler syndrome type 1	HP:0040281 - Very frequent		284
HP:0000177	HP:0000319	Smooth philtrum	2	COL3A1 CL E G H	1281	2201	OMIM:618343	Polymicrogyria with or without vascular-type ehlers-danlos syndrome	.		749
HP:0000177	HP:0000322	Short philtrum	2	COL3A1 CL E G H	1281	2201	OMIM:618343	Polymicrogyria with or without vascular-type ehlers-danlos syndrome	.		749
HP:0000177	HP:0000289	Broad philtrum	2	COLEC11 CL E G H	78989	17213	OMIM:265050	3mc syndrome 2	.		9
HP:0000177	HP:0000322	Short philtrum	2	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		6
HP:0000177	HP:0000343	Long philtrum	2	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent		6
HP:0000177	HP:0000219	Thin upper lip vermilion	2	COPB2 CL E G H	9276	2232	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent
HP:0000177	HP:0000343	Long philtrum	2	COX7B CL E G H	1349	2291	OMIM:300887	Linear skin defects with multiple congenital anomalies 2	HP:0040283 - Occasional		6
HP:0000177	HP:0011340	Incomplete cleft of the upper lip	2	CPLANE1 CL E G H	65250	25801	OMIM:277170	Orofaciodigital syndrome VI
HP:0000177	HP:0000219	Thin upper lip vermilion	2	CPLX1 CL E G H	10815	2309	OMIM:617976	Epileptic encephalopathy, early infantile, 63	.		1
HP:0000177	HP:0000343	Long philtrum	2	CPLX1 CL E G H	10815	2309	OMIM:617976	Epileptic encephalopathy, early infantile, 63	.		1
HP:0000177	HP:0000322	Short philtrum	2	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent		1
HP:0000177	HP:0000322	Short philtrum	2	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome			1
HP:0000177	HP:0000219	Thin upper lip vermilion	2	CREBBP CL E G H	1387	2348	OMIM:618332	MENKE-HENNEKAM SYNDROME 1; MKHK1			291
HP:0000177	HP:0000322	Short philtrum	2	CREBBP CL E G H	1387	2348	OMIM:618332	MENKE-HENNEKAM SYNDROME 1; MKHK1			291
HP:0000177	HP:0000343	Long philtrum	2	CREBBP CL E G H	1387	2348	OMIM:618332	MENKE-HENNEKAM SYNDROME 1; MKHK1			291
HP:0000177	HP:0002002	Deep philtrum	2	CREBBP CL E G H	1387	2348	OMIM:618332	MENKE-HENNEKAM SYNDROME 1; MKHK1			291
HP:0000177	HP:0010803	Everted upper lip vermilion	2	CREBBP CL E G H	1387	2348	OMIM:618332	MENKE-HENNEKAM SYNDROME 1; MKHK1			291
HP:0000177	HP:0000219	Thin upper lip vermilion	2	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1			291
HP:0000177	HP:0000319	Smooth philtrum	2	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1			291
HP:0000177	HP:0000219	Thin upper lip vermilion	2	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040282 - Frequent
HP:0000177	HP:0000319	Smooth philtrum	2	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040281 - Very frequent
HP:0000177	HP:0000343	Long philtrum	2	CRLF1 CL E G H	9244	2364	ORPHA:1545	Crisponi syndrome	HP:0040281 - Very frequent		24
HP:0000177	HP:0000343	Long philtrum	2	CRLF1 CL E G H	9244	2364	OMIM:272430	Crisponi/cold-induced sweating syndrome 1	.		24
HP:0000177	HP:0000343	Long philtrum	2	CRTAP CL E G H	10491	2379	OMIM:610682	Osteogenesis imperfecta, type VII	.		124
HP:0000177	HP:0010804	Tented upper lip vermilion	2	CSF1R CL E G H	1436	2433	OMIM:618476	Brain abnormalities, neurodegeneration, and dysosteosclerosis			149
HP:0000177	HP:0000343	Long philtrum	2	CSGALNACT1 CL E G H	55790	24290	OMIM:618870	SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE; SDJLABA
HP:0000177	HP:0000219	Thin upper lip vermilion	2	CSNK2A1 CL E G H	1457	2457	OMIM:617062	Okur-Chung neurodevelopmental syndrome	.		12
HP:0000177	HP:0000319	Smooth philtrum	2	CSNK2B CL E G H	1460	2460	OMIM:618732	POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME; POBINDS			2
HP:0000177	HP:0000322	Short philtrum	2	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0000177	HP:0000322	Short philtrum	2	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent		2
HP:0000177	HP:0000219	Thin upper lip vermilion	2	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder	HP:0040282 - Frequent		20
HP:0000177	HP:0000322	Short philtrum	2	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder	HP:0040283 - Occasional		20
HP:0000177	HP:0000343	Long philtrum	2	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder	HP:0040283 - Occasional		20
HP:0000177	HP:0000343	Long philtrum	2	CTCF CL E G H	10664	13723	OMIM:615502	Mental retardation, autosomal dominant 21			20
HP:0000177	HP:0000219	Thin upper lip vermilion	2	CTNNB1 CL E G H	1499	2514	OMIM:615075	Neurodevelopmental disorder with spastic diplegia and visual defects	.		88
HP:0000177	HP:0000343	Long philtrum	2	CTNNB1 CL E G H	1499	2514	OMIM:615075	Neurodevelopmental disorder with spastic diplegia and visual defects	.		88
HP:0000177	HP:0000219	Thin upper lip vermilion	2	CTNNB1 CL E G H	1499	2514	ORPHA:404473	Severe intellectual disability-progressive spastic diplegia syndrome	HP:0040283 - Occasional		88
HP:0000177	HP:0000319	Smooth philtrum	2	CTNNB1 CL E G H	1499	2514	ORPHA:404473	Severe intellectual disability-progressive spastic diplegia syndrome	HP:0040283 - Occasional		88
HP:0000177	HP:0000343	Long philtrum	2	CTNNB1 CL E G H	1499	2514	ORPHA:404473	Severe intellectual disability-progressive spastic diplegia syndrome	HP:0040283 - Occasional		88
HP:0000177	HP:0100335	Non-midline cleft lip	2	CTNND1 CL E G H	1500	2515	ORPHA:1997	Blepharo-cheilo-odontic syndrome
HP:0000177	HP:0000322	Short philtrum	2	CUL4B CL E G H	8450	2555	ORPHA:85293	X-linked intellectual disability, Cabezas type	HP:0040281 - Very frequent		38
HP:0000177	HP:0000343	Long philtrum	2	CUL7 CL E G H	9820	21024	OMIM:273750	3-M syndrome 1			127
HP:0000177	HP:0000343	Long philtrum	2	CUL7 CL E G H	9820	21024	ORPHA:2616	3M syndrome	HP:0040282 - Frequent		127
HP:0000177	HP:0010804	Tented upper lip vermilion	2	CYFIP2 CL E G H	26999	13760	OMIM:618008	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65; EIEE65			1
HP:0000177	HP:0010804	Tented upper lip vermilion	2	DCHS1 CL E G H	8642	13681	OMIM:601390	Van maldergem syndrome 1	.		27
HP:0000177	HP:0000219	Thin upper lip vermilion	2	DCPS CL E G H	28960	29812	OMIM:616459	Al-Raqad syndrome	.		5
HP:0000177	HP:0000219	Thin upper lip vermilion	2	DDB1 CL E G H	1642	2717	OMIM:619426	WHITE-KERNOHAN SYNDROME; WHIKERS
HP:0000177	HP:0010804	Tented upper lip vermilion	2	DDB1 CL E G H	1642	2717	OMIM:619426	WHITE-KERNOHAN SYNDROME; WHIKERS
HP:0000177	HP:0000161	Median cleft lip	2	DDX59 CL E G H	83479	25360	ORPHA:2919	Orofaciodigital syndrome type 5	HP:0040281 - Very frequent		2
HP:0000177	HP:0100335	Non-midline cleft lip	2	DDX59 CL E G H	83479	25360	ORPHA:2919	Orofaciodigital syndrome type 5	HP:0040283 - Occasional		2
HP:0000177	HP:0010800	Absent cupid's bow	2	DDX59 CL E G H	83479	25360	ORPHA:2919	Orofaciodigital syndrome type 5	HP:0040283 - Occasional		2
HP:0000177	HP:0000161	Median cleft lip	2	DDX59 CL E G H	83479	25360	OMIM:174300	Orofaciodigital syndrome V	.		2
HP:0000177	HP:0000219	Thin upper lip vermilion	2	DDX59 CL E G H	83479	25360	OMIM:174300	Orofaciodigital syndrome V			2
HP:0000177	HP:0000319	Smooth philtrum	2	DDX6 CL E G H	1656	2747	OMIM:618653	INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0000177	HP:0010804	Tented upper lip vermilion	2	DEAF1 CL E G H	10522	14677	OMIM:615828	Mental retardation, autosomal dominant 24	.		33
HP:0000177	HP:0000322	Short philtrum	2	DEAF1 CL E G H	10522	14677	ORPHA:819	Smith-Magenis syndrome	HP:0040282 - Frequent		33
HP:0000177	HP:0010804	Tented upper lip vermilion	2	DEAF1 CL E G H	10522	14677	ORPHA:819	Smith-Magenis syndrome	HP:0040281 - Very frequent		33
HP:0000177	HP:0000215	Thick upper lip vermilion	2	DENND5A CL E G H	23258	19344	OMIM:617281	Epileptic encephalopathy, early infantile, 49	.		6
HP:0000177	HP:0000322	Short philtrum	2	DENND5A CL E G H	23258	19344	OMIM:617281	Epileptic encephalopathy, early infantile, 49	.		6
HP:0000177	HP:0000343	Long philtrum	2	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome	HP:0040282 - Frequent		159
HP:0000177	HP:0000343	Long philtrum	2	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome			159
HP:0000177	HP:0100335	Non-midline cleft lip	2	DHODH CL E G H	1723	2867	ORPHA:246	Postaxial acrofacial dysostosis	HP:0040282 - Frequent		59
HP:0000177	HP:0000219	Thin upper lip vermilion	2	DHPS CL E G H	1725	2869	OMIM:618480	Neurodevelopmental disorder with seizures and speech and walking impairment
HP:0000177	HP:0000319	Smooth philtrum	2	DHPS CL E G H	1725	2869	OMIM:618480	Neurodevelopmental disorder with seizures and speech and walking impairment
HP:0000177	HP:0000322	Short philtrum	2	DHX37 CL E G H	57647	17210	OMIM:618731	NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES; NEDBAVC			2
HP:0000177	HP:0000319	Smooth philtrum	2	DIS3L2 CL E G H	129563	28648	ORPHA:2849	Perlman syndrome	HP:0040281 - Very frequent		164
HP:0000177	HP:0010804	Tented upper lip vermilion	2	DIS3L2 CL E G H	129563	28648	OMIM:267000	Perlman syndrome	.		164
HP:0000177	HP:0000161	Median cleft lip	2	DISP1 CL E G H	84976	19711	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		22
HP:0000177	HP:0000161	Median cleft lip	2	DISP1 CL E G H	84976	19711	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		22
HP:0000177	HP:0000322	Short philtrum	2	DISP1 CL E G H	84976	19711	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent		22
HP:0000177	HP:0010804	Tented upper lip vermilion	2	DISP1 CL E G H	84976	19711	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent		22
HP:0000177	HP:0000161	Median cleft lip	2	DISP1 CL E G H	84976	19711	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		22
HP:0000177	HP:0000161	Median cleft lip	2	DISP1 CL E G H	84976	19711	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		22
HP:0000177	HP:0002263	Exaggerated cupid's bow	2	DLK1 CL E G H	8788	2907	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion	HP:0040283 - Occasional		1
HP:0000177	HP:0000322	Short philtrum	2	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:0000177	HP:0000343	Long philtrum	2	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:0000177	HP:0002002	Deep philtrum	2	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040282 - Frequent		1
HP:0000177	HP:0010804	Tented upper lip vermilion	2	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:0000177	HP:0000322	Short philtrum	2	DLK1 CL E G H	8788	2907	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14	HP:0040283 - Occasional		1
HP:0000177	HP:0000322	Short philtrum	2	DLK1 CL E G H	8788	2907	ORPHA:254531	Temple syndrome due to paternal 14q32.2 hypomethylation	HP:0040283 - Occasional		1
HP:0000177	HP:0000161	Median cleft lip	2	DLL1 CL E G H	28514	2908	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		3
HP:0000177	HP:0000161	Median cleft lip	2	DLL1 CL E G H	28514	2908	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		3
HP:0000177	HP:0000322	Short philtrum	2	DLL1 CL E G H	28514	2908	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent		3
HP:0000177	HP:0010804	Tented upper lip vermilion	2	DLL1 CL E G H	28514	2908	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent		3
HP:0000177	HP:0000161	Median cleft lip	2	DLL1 CL E G H	28514	2908	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		3
HP:0000177	HP:0000161	Median cleft lip	2	DLL1 CL E G H	28514	2908	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		3
HP:0000177	HP:0000343	Long philtrum	2	DLL3 CL E G H	10683	2909	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional		45
HP:0000177	HP:0100335	Non-midline cleft lip	2	DLX4 CL E G H	1748	2917	OMIM:616788	Orofacial cleft 15			1
HP:0000177	HP:0010804	Tented upper lip vermilion	2	DMPK CL E G H	1760	2933	ORPHA:589821	Congenital-onset Steinert myotonic dystrophy			152
HP:0000177	HP:0000343	Long philtrum	2	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000177	HP:0002002	Deep philtrum	2	DNMT3A CL E G H	1788	2978	ORPHA:404443	Tatton-Brown-Rahman syndrome	HP:0040284 - Very rare		44
HP:0000177	HP:0002002	Deep philtrum	2	DNMT3A CL E G H	1788	2978	OMIM:615879	Tatton-Brown-Rahman syndrome			44
HP:0000177	HP:0002263	Exaggerated cupid's bow	2	DNMT3A CL E G H	1788	2978	OMIM:615879	Tatton-Brown-Rahman syndrome			44
HP:0000177	HP:0010803	Everted upper lip vermilion	2	DNMT3A CL E G H	1788	2978	OMIM:615879	Tatton-Brown-Rahman syndrome			44
HP:0000177	HP:0000322	Short philtrum	2	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:0000177	HP:0000322	Short philtrum	2	DOCK7 CL E G H	85440	19190	OMIM:615859	Epileptic encephalopathy, early infantile, 23	.		11
HP:0000177	HP:0000219	Thin upper lip vermilion	2	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent
HP:0000177	HP:0000289	Broad philtrum	2	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent
HP:0000177	HP:0000219	Thin upper lip vermilion	2	DPF2 CL E G H	5977	9964	OMIM:618027	Coffin-Siris syndrome 7	.
HP:0000177	HP:0000289	Broad philtrum	2	DPF2 CL E G H	5977	9964	OMIM:618027	Coffin-Siris syndrome 7	.
HP:0000177	HP:0000322	Short philtrum	2	DPF2 CL E G H	5977	9964	OMIM:618027	Coffin-Siris syndrome 7	.
HP:0000177	HP:0000319	Smooth philtrum	2	DPM1 CL E G H	8813	3005	OMIM:608799	Congenital disorder of glycosylation, type IE	.		27
HP:0000177	HP:0000319	Smooth philtrum	2	DPM1 CL E G H	8813	3005	ORPHA:79322	DPM1-CDG	HP:0040283 - Occasional		27
HP:0000177	HP:0010804	Tented upper lip vermilion	2	DPM1 CL E G H	8813	3005	ORPHA:79322	DPM1-CDG	HP:0040283 - Occasional		27
HP:0000177	HP:0010806	U-Shaped upper lip vermilion	2	DPM1 CL E G H	8813	3005	ORPHA:79322	DPM1-CDG	HP:0040283 - Occasional		27
HP:0000177	HP:0000219	Thin upper lip vermilion	2	DPM2 CL E G H	8818	3006	OMIM:615042	Congenital disorder of glycosylation, type Iu	.		26
HP:0000177	HP:0000219	Thin upper lip vermilion	2	DPM2 CL E G H	8818	3006	ORPHA:329178	Congenital muscular dystrophy with intellectual disability and severe epilepsy	HP:0040283 - Occasional		26
HP:0000177	HP:0002002	Deep philtrum	2	DPM2 CL E G H	8818	3006	ORPHA:329178	Congenital muscular dystrophy with intellectual disability and severe epilepsy	HP:0040283 - Occasional		26
HP:0000177	HP:0002002	Deep philtrum	2	DPYD CL E G H	1806	3012	ORPHA:1675	Dihydropyrimidine dehydrogenase deficiency	HP:0040283 - Occasional		144
HP:0000177	HP:0000322	Short philtrum	2	DPYSL5 CL E G H	56896	20637	OMIM:619435	RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0000177	HP:0000343	Long philtrum	2	DSE CL E G H	29940	21144	OMIM:615539	Ehlers-Danlos syndrome, musculocontractural type, 2	.		13
HP:0000177	HP:0000219	Thin upper lip vermilion	2	DSE CL E G H	29940	21144	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome	HP:0040281 - Very frequent		13
HP:0000177	HP:0000343	Long philtrum	2	DSE CL E G H	29940	21144	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome	HP:0040281 - Very frequent		13
HP:0000177	HP:0000161	Median cleft lip	2	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome			14
HP:0000177	HP:0000322	Short philtrum	2	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional		14
HP:0000177	HP:0000343	Long philtrum	2	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent		14
HP:0000177	HP:0000219	Thin upper lip vermilion	2	DVL1 CL E G H	1855	3084	OMIM:180700	Robinow syndrome, autosomal dominant 1			14
HP:0000177	HP:0000343	Long philtrum	2	DVL1 CL E G H	1855	3084	OMIM:180700	Robinow syndrome, autosomal dominant 1	.		14
HP:0000177	HP:0000219	Thin upper lip vermilion	2	DVL1 CL E G H	1855	3084	OMIM:616331	Robinow syndrome, autosomal dominant 2	.		14
HP:0000177	HP:0000343	Long philtrum	2	DVL1 CL E G H	1855	3084	OMIM:616331	Robinow syndrome, autosomal dominant 2	.		14
HP:0000177	HP:0000161	Median cleft lip	2	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome			5
HP:0000177	HP:0000322	Short philtrum	2	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional		5
HP:0000177	HP:0000343	Long philtrum	2	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent		5
HP:0000177	HP:0000343	Long philtrum	2	DVL3 CL E G H	1857	3087	OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3			5
HP:0000177	HP:0000343	Long philtrum	2	DYNC2H1 CL E G H	79659	2962	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040282 - Frequent		304
HP:0000177	HP:0000343	Long philtrum	2	DYNC2I1 CL E G H	55112	21862	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040282 - Frequent
HP:0000177	HP:0000343	Long philtrum	2	DYNC2I2 CL E G H	89891	28296	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040282 - Frequent
HP:0000177	HP:0000161	Median cleft lip	2	DYNC2LI1 CL E G H	51626	24595	OMIM:617088	Short-rib thoracic dysplasia 15 with polydactyly			7
HP:0000177	HP:0000219	Thin upper lip vermilion	2	DYRK1A CL E G H	1859	3091	OMIM:614104	Mental retardation, autosomal dominant 7			134
HP:0000177	HP:0000319	Smooth philtrum	2	DYRK1A CL E G H	1859	3091	OMIM:614104	Mental retardation, autosomal dominant 7			134
HP:0000177	HP:0000215	Thick upper lip vermilion	2	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS			25
HP:0000177	HP:0000219	Thin upper lip vermilion	2	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS			25
HP:0000177	HP:0000319	Smooth philtrum	2	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS			25
HP:0000177	HP:0002002	Deep philtrum	2	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS			25
HP:0000177	HP:0010803	Everted upper lip vermilion	2	EDA CL E G H	1896	3157	OMIM:305100	Ectodermal dysplasia 1, hypohidrotic, X-linked	.		115
HP:0000177	HP:0010803	Everted upper lip vermilion	2	EDA CL E G H	1896	3157	ORPHA:181	X-linked hypohidrotic ectodermal dysplasia	HP:0040281 - Very frequent		115
HP:0000177	HP:0010803	Everted upper lip vermilion	2	EDA2R CL E G H	60401	17756	ORPHA:181	X-linked hypohidrotic ectodermal dysplasia	HP:0040281 - Very frequent		11
HP:0000177	HP:0010803	Everted upper lip vermilion	2	EDAR CL E G H	10913	2895	OMIM:224900	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive	.		86
HP:0000177	HP:0010803	Everted upper lip vermilion	2	EDARADD CL E G H	128178	14341	OMIM:224900	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive	.		56
HP:0000177	HP:0000219	Thin upper lip vermilion	2	EDEM3 CL E G H	80267	16787	OMIM:619493	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v; CDG2V
HP:0000177	HP:0000322	Short philtrum	2	EDEM3 CL E G H	80267	16787	OMIM:619493	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v; CDG2V
HP:0000177	HP:0000343	Long philtrum	2	EED CL E G H	8726	3188	ORPHA:3447	Weaver syndrome	HP:0040281 - Very frequent		4
HP:0000177	HP:0002002	Deep philtrum	2	EED CL E G H	8726	3188	ORPHA:3447	Weaver syndrome	HP:0040282 - Frequent		4
HP:0000177	HP:0010804	Tented upper lip vermilion	2	EEF1A2 CL E G H	1917	3192	OMIM:616393	Mental retardation, autosomal dominant 38	.		60
HP:0000177	HP:0002002	Deep philtrum	2	EFTUD2 CL E G H	9343	30858	OMIM:610536	Mandibulofacial dysostosis, Guion-Almeida type	.		48
HP:0000177	HP:0010806	U-Shaped upper lip vermilion	2	EHMT1 CL E G H	79813	24650	OMIM:610253	Kleefstra syndrome			223
HP:0000177	HP:0000343	Long philtrum	2	EIF2S3 CL E G H	1968	3267	OMIM:300148	Mehmo syndrome	.		8
HP:0000177	HP:0000343	Long philtrum	2	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000177	HP:0000219	Thin upper lip vermilion	2	EIF5A CL E G H	1984	3300	OMIM:619376	FAUNDES-BANKA SYNDROME; FABAS
HP:0000177	HP:0000343	Long philtrum	2	ELN CL E G H	2006	3327	OMIM:123700	Cutis laxa, autosomal dominant 1			172
HP:0000177	HP:0000343	Long philtrum	2	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent		172
HP:0000177	HP:0000343	Long philtrum	2	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome			172
HP:0000177	HP:0000322	Short philtrum	2	EMC1 CL E G H	23065	28957	OMIM:616875	Cerebellar atrophy, visual impairment, and psychomotor retardation			5
HP:0000177	HP:0000322	Short philtrum	2	EMC1 CL E G H	23065	28957	ORPHA:480898	Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome	HP:0040282 - Frequent		5
HP:0000177	HP:0000219	Thin upper lip vermilion	2	EP300 CL E G H	2033	3373	OMIM:618333	MENKE-HENNEKAM SYNDROME 2; MKHK2			250
HP:0000177	HP:0002002	Deep philtrum	2	EP300 CL E G H	2033	3373	OMIM:618333	MENKE-HENNEKAM SYNDROME 2; MKHK2			250
HP:0000177	HP:0000219	Thin upper lip vermilion	2	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1			250
HP:0000177	HP:0000319	Smooth philtrum	2	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1			250
HP:0000177	HP:0000322	Short philtrum	2	EPB41L1 CL E G H	2036	3378	OMIM:614257	MENTAL RETARDATION, AUTOSOMAL DOMINANT 11; MRD11			29
HP:0000177	HP:0000161	Median cleft lip	2	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome			40
HP:0000177	HP:0000343	Long philtrum	2	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome			40
HP:0000177	HP:0010803	Everted upper lip vermilion	2	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome			40
HP:0000177	HP:0000322	Short philtrum	2	ERCC1 CL E G H	2067	3433	OMIM:610758	Cerebrooculofacioskeletal syndrome 4	.		20
HP:0000177	HP:0000343	Long philtrum	2	ERCC6 CL E G H	2074	3438	OMIM:214150	Cerebrooculofacioskeletal syndrome 1	.		199
HP:0000177	HP:0000322	Short philtrum	2	ERLIN2 CL E G H	11160	1356	ORPHA:209951	Autosomal recessive spastic paraplegia type 18	HP:0040283 - Occasional		18
HP:0000177	HP:0000322	Short philtrum	2	ERLIN2 CL E G H	11160	1356	ORPHA:280384	Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome	HP:0040283 - Occasional		18
HP:0000177	HP:0000289	Broad philtrum	2	ERMARD CL E G H	55780	21056	ORPHA:75857	6q terminal deletion syndrome	HP:0040283 - Occasional		36
HP:0000177	HP:0000219	Thin upper lip vermilion	2	EXOC2 CL E G H	55770	24968	OMIM:619306	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA; NEDFACH			1
HP:0000177	HP:0000319	Smooth philtrum	2	EXOC2 CL E G H	55770	24968	OMIM:619306	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA; NEDFACH			1
HP:0000177	HP:0000343	Long philtrum	2	EXOC2 CL E G H	55770	24968	OMIM:619306	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA; NEDFACH			1
HP:0000177	HP:0002263	Exaggerated cupid's bow	2	EXOC2 CL E G H	55770	24968	OMIM:619306	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA; NEDFACH			1
HP:0000177	HP:0000343	Long philtrum	2	EXOC7 CL E G H	23265	23214	OMIM:619072	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ATROPHY; NEDSEBA
HP:0000177	HP:0000319	Smooth philtrum	2	EXOSC1 CL E G H	51013	17286	OMIM:619304	PONTOCEREBELLAR HYPOPLASIA, TYPE 1F; PCH1F
HP:0000177	HP:0000343	Long philtrum	2	EXOSC1 CL E G H	51013	17286	OMIM:619304	PONTOCEREBELLAR HYPOPLASIA, TYPE 1F; PCH1F
HP:0000177	HP:0000219	Thin upper lip vermilion	2	EXOSC2 CL E G H	23404	17097	OMIM:617763	Short stature, hearing loss, retinitis pigmentosa, and distinctive facies	.
HP:0000177	HP:0000343	Long philtrum	2	EXOSC2 CL E G H	23404	17097	OMIM:617763	Short stature, hearing loss, retinitis pigmentosa, and distinctive facies	.
HP:0000177	HP:0000219	Thin upper lip vermilion	2	EXT1 CL E G H	2131	3512	ORPHA:502	Trichorhinophalangeal syndrome type 2	HP:0040281 - Very frequent		96
HP:0000177	HP:0000343	Long philtrum	2	EXT1 CL E G H	2131	3512	ORPHA:502	Trichorhinophalangeal syndrome type 2	HP:0040281 - Very frequent		96
HP:0000177	HP:0002002	Deep philtrum	2	EXT1 CL E G H	2131	3512	ORPHA:502	Trichorhinophalangeal syndrome type 2	HP:0040281 - Very frequent		96
HP:0000177	HP:0000322	Short philtrum	2	EXT2 CL E G H	2132	3513	ORPHA:52022	Potocki-Shaffer syndrome	HP:0040282 - Frequent		102
HP:0000177	HP:0005326	Hypoplastic philtrum	2	EXT2 CL E G H	2132	3513	OMIM:616682	Seizures, scoliosis, and macrocephaly/microcephaly syndrome	.		102
HP:0000177	HP:0000343	Long philtrum	2	EXT2 CL E G H	2132	3513	ORPHA:466926	Seizures-scoliosis-macrocephaly syndrome	HP:0040282 - Frequent		102
HP:0000177	HP:0000343	Long philtrum	2	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome	HP:0040283 - Occasional		3
HP:0000177	HP:0000343	Long philtrum	2	EZH2 CL E G H	2146	3527	ORPHA:3447	Weaver syndrome	HP:0040281 - Very frequent		81
HP:0000177	HP:0000343	Long philtrum	2	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome	.		81
HP:0000177	HP:0002002	Deep philtrum	2	EZH2 CL E G H	2146	3527	ORPHA:3447	Weaver syndrome	HP:0040282 - Frequent		81
HP:0000177	HP:0000161	Median cleft lip	2	FAM20C CL E G H	56975	22140	ORPHA:1832	Lethal osteosclerotic bone dysplasia			35
HP:0000177	HP:0000219	Thin upper lip vermilion	2	FAR1 CL E G H	84188	26222	ORPHA:438178	Fatty acyl-CoA reductase 1 deficiency	HP:0040283 - Occasional		7
HP:0000177	HP:0000319	Smooth philtrum	2	FAR1 CL E G H	84188	26222	ORPHA:438178	Fatty acyl-CoA reductase 1 deficiency	HP:0040283 - Occasional		7
HP:0000177	HP:0000343	Long philtrum	2	FAR1 CL E G H	84188	26222	ORPHA:438178	Fatty acyl-CoA reductase 1 deficiency	HP:0040283 - Occasional		7
HP:0000177	HP:0000219	Thin upper lip vermilion	2	FAR1 CL E G H	84188	26222	OMIM:616154	PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER; PFCRD			7
HP:0000177	HP:0000343	Long philtrum	2	FAR1 CL E G H	84188	26222	OMIM:616154	PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER; PFCRD			7
HP:0000177	HP:0000322	Short philtrum	2	FAT4 CL E G H	79633	23109	ORPHA:2136	Hennekam syndrome	HP:0040283 - Occasional		114
HP:0000177	HP:0010804	Tented upper lip vermilion	2	FAT4 CL E G H	79633	23109	OMIM:615546	Van maldergem syndrome 2	.		114
HP:0000177	HP:0000343	Long philtrum	2	FBN1 CL E G H	2200	3603	OMIM:102370	Acromicric dysplasia	.		1361
HP:0000177	HP:0000343	Long philtrum	2	FBN1 CL E G H	2200	3603	ORPHA:969	Acromicric dysplasia	HP:0040281 - Very frequent		1361
HP:0000177	HP:0002002	Deep philtrum	2	FBN1 CL E G H	2200	3603	OMIM:102370	Acromicric dysplasia	.		1361
HP:0000177	HP:0000219	Thin upper lip vermilion	2	FBN1 CL E G H	2200	3603	OMIM:614185	GELEOPHYSIC DYSPLASIA 2; GPHYSD2			1361
HP:0000177	HP:0000319	Smooth philtrum	2	FBN1 CL E G H	2200	3603	OMIM:614185	GELEOPHYSIC DYSPLASIA 2; GPHYSD2			1361
HP:0000177	HP:0000343	Long philtrum	2	FBN1 CL E G H	2200	3603	OMIM:614185	GELEOPHYSIC DYSPLASIA 2; GPHYSD2			1361
HP:0000177	HP:0000343	Long philtrum	2	FBXO11 CL E G H	80204	13590	OMIM:618089	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	.		7
HP:0000177	HP:0010804	Tented upper lip vermilion	2	FBXO28 CL E G H	23219	29046	OMIM:619777	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0000177	HP:0000289	Broad philtrum	2	FGD1 CL E G H	2245	3663	OMIM:305400	Aarskog-Scott syndrome			62
HP:0000177	HP:0000343	Long philtrum	2	FGD1 CL E G H	2245	3663	ORPHA:915	Aarskog-Scott syndrome	HP:0040282 - Frequent		62
HP:0000177	HP:0100335	Non-midline cleft lip	2	FGF20 CL E G H	26281	3677	ORPHA:1848	Renal agenesis, bilateral	HP:0040283 - Occasional		2
HP:0000177	HP:0000343	Long philtrum	2	FGF3 CL E G H	2248	3681	ORPHA:2791	Otodental syndrome	HP:0040282 - Frequent		18
HP:0000177	HP:0000161	Median cleft lip	2	FGF8 CL E G H	2253	3686	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		17
HP:0000177	HP:0000161	Median cleft lip	2	FGF8 CL E G H	2253	3686	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		17
HP:0000177	HP:0000322	Short philtrum	2	FGF8 CL E G H	2253	3686	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent		17
HP:0000177	HP:0010804	Tented upper lip vermilion	2	FGF8 CL E G H	2253	3686	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent		17
HP:0000177	HP:0000161	Median cleft lip	2	FGF8 CL E G H	2253	3686	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		17
HP:0000177	HP:0000161	Median cleft lip	2	FGF8 CL E G H	2253	3686	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		17
HP:0000177	HP:0100335	Non-midline cleft lip	2	FGFR1 CL E G H	2260	3688	ORPHA:2117	Hartsfield syndrome	HP:0040281 - Very frequent		172
HP:0000177	HP:0000161	Median cleft lip	2	FGFR1 CL E G H	2260	3688	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		172
HP:0000177	HP:0000322	Short philtrum	2	FGFR1 CL E G H	2260	3688	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent		172
HP:0000177	HP:0010804	Tented upper lip vermilion	2	FGFR1 CL E G H	2260	3688	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent		172
HP:0000177	HP:0000343	Long philtrum	2	FGFR1 CL E G H	2260	3688	OMIM:166250	Osteoglophonic dysplasia	.		172
HP:0000177	HP:0000161	Median cleft lip	2	FGFR1 CL E G H	2260	3688	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		172
HP:0000177	HP:0000343	Long philtrum	2	FGFR1 CL E G H	2260	3688	OMIM:190440	Trigonocephaly 1			172
HP:0000177	HP:0000343	Long philtrum	2	FGFR2 CL E G H	2263	3689	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis	.		175
HP:0000177	HP:0000322	Short philtrum	2	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0000177	HP:0000219	Thin upper lip vermilion	2	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome			111
HP:0000177	HP:0000322	Short philtrum	2	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome	.		111
HP:0000177	HP:0000322	Short philtrum	2	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome	HP:0040282 - Frequent		111
HP:0000177	HP:0000343	Long philtrum	2	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000177	HP:0000319	Smooth philtrum	2	FLCN CL E G H	201163	27310	OMIM:610883	Potocki-Lupski syndrome	.		332
HP:0000177	HP:0000319	Smooth philtrum	2	FLI1 CL E G H	2313	3749	ORPHA:2308	Jacobsen syndrome	HP:0040282 - Frequent		8
HP:0000177	HP:0000343	Long philtrum	2	FLI1 CL E G H	2313	3749	ORPHA:2308	Jacobsen syndrome	HP:0040282 - Frequent		8
HP:0000177	HP:0000322	Short philtrum	2	FLII CL E G H	2314	3750	ORPHA:819	Smith-Magenis syndrome	HP:0040282 - Frequent
HP:0000177	HP:0010804	Tented upper lip vermilion	2	FLII CL E G H	2314	3750	ORPHA:819	Smith-Magenis syndrome	HP:0040281 - Very frequent
HP:0000177	HP:0000343	Long philtrum	2	FLNA CL E G H	2316	3754	ORPHA:555877	FLNA-related X-linked myxomatous valvular dysplasia			493
HP:0000177	HP:0000319	Smooth philtrum	2	FLNA CL E G H	2316	3754	OMIM:300048	Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked	.		493
HP:0000177	HP:0000161	Median cleft lip	2	FOXA2 CL E G H	3170	5022	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms
HP:0000177	HP:0000319	Smooth philtrum	2	FOXG1 CL E G H	2290	3811	ORPHA:261144	FOXG1 syndrome due to 14q12 microdeletion	HP:0040282 - Frequent		177
HP:0000177	HP:0010804	Tented upper lip vermilion	2	FOXG1 CL E G H	2290	3811	ORPHA:261144	FOXG1 syndrome due to 14q12 microdeletion	HP:0040281 - Very frequent		177
HP:0000177	HP:0000219	Thin upper lip vermilion	2	FOXG1 CL E G H	2290	3811	OMIM:613454	Rett syndrome, congenital variant			177
HP:0000177	HP:0000161	Median cleft lip	2	FOXH1 CL E G H	8928	3814	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		48
HP:0000177	HP:0000161	Median cleft lip	2	FOXH1 CL E G H	8928	3814	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		48
HP:0000177	HP:0000322	Short philtrum	2	FOXH1 CL E G H	8928	3814	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent		48
HP:0000177	HP:0010804	Tented upper lip vermilion	2	FOXH1 CL E G H	8928	3814	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent		48
HP:0000177	HP:0000161	Median cleft lip	2	FOXH1 CL E G H	8928	3814	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		48
HP:0000177	HP:0000161	Median cleft lip	2	FOXH1 CL E G H	8928	3814	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		48
HP:0000177	HP:0000322	Short philtrum	2	FOXL2 CL E G H	668	1092	ORPHA:572333	Blepharophimosis-ptosis-epicanthus inversus syndrome plus	HP:0040282 - Frequent		92
HP:0000177	HP:0000322	Short philtrum	2	FREM1 CL E G H	158326	23399	OMIM:608980	Bifid nose with or without anorectal and renal anomalies	.		198
HP:0000177	HP:0000343	Long philtrum	2	FZD2 CL E G H	2535	4040	ORPHA:93328	Autosomal dominant omodysplasia	HP:0040282 - Frequent
HP:0000177	HP:0000161	Median cleft lip	2	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome
HP:0000177	HP:0000322	Short philtrum	2	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional
HP:0000177	HP:0000343	Long philtrum	2	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent
HP:0000177	HP:0000343	Long philtrum	2	FZD2 CL E G H	2535	4040	OMIM:164745	OMODYSPLASIA	.
HP:0000177	HP:0000343	Long philtrum	2	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent		10
HP:0000177	HP:0000219	Thin upper lip vermilion	2	GAD1 CL E G H	2571	4092	OMIM:619124	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE89			44
HP:0000177	HP:0000319	Smooth philtrum	2	GAD1 CL E G H	2571	4092	OMIM:619124	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE89			44
HP:0000177	HP:0000343	Long philtrum	2	GAD1 CL E G H	2571	4092	OMIM:619124	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE89			44
HP:0000177	HP:0000322	Short philtrum	2	GALNT2 CL E G H	2590	4124	OMIM:618885	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T
HP:0000177	HP:0010804	Tented upper lip vermilion	2	GALNT2 CL E G H	2590	4124	OMIM:618885	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T
HP:0000177	HP:0000161	Median cleft lip	2	GAS1 CL E G H	2619	4165	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		2
HP:0000177	HP:0000161	Median cleft lip	2	GAS1 CL E G H	2619	4165	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		2
HP:0000177	HP:0000322	Short philtrum	2	GAS1 CL E G H	2619	4165	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent		2
HP:0000177	HP:0010804	Tented upper lip vermilion	2	GAS1 CL E G H	2619	4165	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent		2
HP:0000177	HP:0000161	Median cleft lip	2	GAS1 CL E G H	2619	4165	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		2
HP:0000177	HP:0000161	Median cleft lip	2	GAS1 CL E G H	2619	4165	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		2
HP:0000177	HP:0000219	Thin upper lip vermilion	2	GATAD2B CL E G H	57459	30778	OMIM:615074	Mental retardation, autosomal dominant 18	.		33
HP:0000177	HP:0000322	Short philtrum	2	GATAD2B CL E G H	57459	30778	OMIM:615074	Mental retardation, autosomal dominant 18			33
HP:0000177	HP:0000219	Thin upper lip vermilion	2	GATAD2B CL E G H	57459	30778	ORPHA:363686	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome	HP:0040282 - Frequent		33
HP:0000177	HP:0000322	Short philtrum	2	GATAD2B CL E G H	57459	30778	ORPHA:363686	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome	HP:0040282 - Frequent		33
HP:0000177	HP:0010803	Everted upper lip vermilion	2	GBA1 CL E G H	2629	4177	OMIM:608013	Gaucher disease, perinatal lethal	.
HP:0000177	HP:0100335	Non-midline cleft lip	2	GDF11 CL E G H	10220	4216	OMIM:619122	VERTEBRAL HYPERSEGMENTATION AND OROFACIAL ANOMALIES; VHO
HP:0000177	HP:0100335	Non-midline cleft lip	2	GFRA1 CL E G H	2674	4243	ORPHA:1848	Renal agenesis, bilateral	HP:0040283 - Occasional		1
HP:0000177	HP:0000161	Median cleft lip	2	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia	HP:0040282 - Frequent		68
HP:0000177	HP:0100335	Non-midline cleft lip	2	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia	HP:0040283 - Occasional		68
HP:0000177	HP:0000343	Long philtrum	2	GJA1 CL E G H	2697	4274	OMIM:257850	Oculodentodigital dysplasia, autosomal recessive	.		68
HP:0000177	HP:0000219	Thin upper lip vermilion	2	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			39
HP:0000177	HP:0000319	Smooth philtrum	2	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			39
HP:0000177	HP:0000343	Long philtrum	2	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			39
HP:0000177	HP:0000219	Thin upper lip vermilion	2	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			34
HP:0000177	HP:0000319	Smooth philtrum	2	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			34
HP:0000177	HP:0000343	Long philtrum	2	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			34
HP:0000177	HP:0000343	Long philtrum	2	GLB1 CL E G H	2720	4298	ORPHA:79255	GM1 gangliosidosis type 1	HP:0040283 - Occasional		120
HP:0000177	HP:0000161	Median cleft lip	2	GLI2 CL E G H	2736	4318	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		173
HP:0000177	HP:0000161	Median cleft lip	2	GLI2 CL E G H	2736	4318	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms			173
HP:0000177	HP:0000322	Short philtrum	2	GLI2 CL E G H	2736	4318	OMIM:610829	Holoprosencephaly 9			173
HP:0000177	HP:0100335	Non-midline cleft lip	2	GLI2 CL E G H	2736	4318	OMIM:610829	Holoprosencephaly 9			173
HP:0000177	HP:0000161	Median cleft lip	2	GLI2 CL E G H	2736	4318	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		173
HP:0000177	HP:0000322	Short philtrum	2	GLI2 CL E G H	2736	4318	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent		173
HP:0000177	HP:0010804	Tented upper lip vermilion	2	GLI2 CL E G H	2736	4318	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent		173
HP:0000177	HP:0000161	Median cleft lip	2	GLI2 CL E G H	2736	4318	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		173
HP:0000177	HP:0000161	Median cleft lip	2	GLI2 CL E G H	2736	4318	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		173
HP:0000177	HP:0000219	Thin upper lip vermilion	2	GLIS3 CL E G H	169792	28510	OMIM:610199	Diabetes mellitus, neonatal, with congenital hypothyroidism	.		143
HP:0000177	HP:0000343	Long philtrum	2	GLIS3 CL E G H	169792	28510	OMIM:610199	Diabetes mellitus, neonatal, with congenital hypothyroidism	.		143
HP:0000177	HP:0000322	Short philtrum	2	GMPPA CL E G H	29926	22923	OMIM:615510	Alacrima, achalasia, and mental retardation syndrome			24
HP:0000177	HP:0000219	Thin upper lip vermilion	2	GNAI1 CL E G H	2770	4384	OMIM:619854
HP:0000177	HP:0010804	Tented upper lip vermilion	2	GNAI1 CL E G H	2770	4384	OMIM:619854
HP:0000177	HP:0000322	Short philtrum	2	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42			12
HP:0000177	HP:0000219	Thin upper lip vermilion	2	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0000177	HP:0002002	Deep philtrum	2	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0000177	HP:0000219	Thin upper lip vermilion	2	GNE CL E G H	10020	23657	ORPHA:3166	Sialuria	HP:0040281 - Very frequent		173
HP:0000177	HP:0000219	Thin upper lip vermilion	2	GNE CL E G H	10020	23657	OMIM:269921	SIALURIA			173
HP:0000177	HP:0000319	Smooth philtrum	2	GNE CL E G H	10020	23657	ORPHA:3166	Sialuria	HP:0040281 - Very frequent		173
HP:0000177	HP:0000319	Smooth philtrum	2	GNE CL E G H	10020	23657	OMIM:269921	SIALURIA	.		173
HP:0000177	HP:0000343	Long philtrum	2	GNE CL E G H	10020	23657	OMIM:269921	SIALURIA	.		173
HP:0000177	HP:0000343	Long philtrum	2	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta	.		240
HP:0000177	HP:0000322	Short philtrum	2	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		8
HP:0000177	HP:0000343	Long philtrum	2	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent		8
HP:0000177	HP:0009101	Submucous cleft lip	2	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1			73
HP:0000177	HP:0000215	Thick upper lip vermilion	2	GPC4 CL E G H	2239	4452	OMIM:301026	Keipert syndrome	.
HP:0000177	HP:0002263	Exaggerated cupid's bow	2	GPC4 CL E G H	2239	4452	OMIM:301026	Keipert syndrome	.
HP:0000177	HP:0002263	Exaggerated cupid's bow	2	GPC4 CL E G H	2239	4452	ORPHA:2662	Keipert syndrome	HP:0040282 - Frequent
HP:0000177	HP:0010804	Tented upper lip vermilion	2	GPC4 CL E G H	2239	4452	ORPHA:2662	Keipert syndrome	HP:0040282 - Frequent
HP:0000177	HP:0009101	Submucous cleft lip	2	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0000177	HP:0000343	Long philtrum	2	GPC6 CL E G H	10082	4454	ORPHA:93329	Autosomal recessive omodysplasia	HP:0040281 - Very frequent		99
HP:0000177	HP:0000343	Long philtrum	2	GPC6 CL E G H	10082	4454	OMIM:258315	Omodysplasia 1	.		99
HP:0000177	HP:0100335	Non-midline cleft lip	2	GREB1L CL E G H	80000	31042	ORPHA:1848	Renal agenesis, bilateral	HP:0040283 - Occasional
HP:0000177	HP:0000322	Short philtrum	2	GRIA3 CL E G H	2892	4573	ORPHA:364028	X-linked intellectual disability due to GRIA3 mutations	HP:0040283 - Occasional		30
HP:0000177	HP:0000343	Long philtrum	2	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent		1
HP:0000177	HP:0000343	Long philtrum	2	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent		1
HP:0000177	HP:0000343	Long philtrum	2	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent		1
HP:0000177	HP:0000289	Broad philtrum	2	H3-3A CL E G H	3020	4764	OMIM:619720	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0000177	HP:0000319	Smooth philtrum	2	H3-3A CL E G H	3020	4764	OMIM:619720	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0000177	HP:0000343	Long philtrum	2	H3-3A CL E G H	3020	4764	OMIM:619720	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0000177	HP:0002002	Deep philtrum	2	H3-3A CL E G H	3020	4764	OMIM:619720	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0000177	HP:0002263	Exaggerated cupid's bow	2	H3-3A CL E G H	3020	4764	OMIM:619720	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0000177	HP:0010804	Tented upper lip vermilion	2	H3-3A CL E G H	3020	4764	OMIM:619720	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0000177	HP:0000343	Long philtrum	2	H3-3B CL E G H	3021	4765	OMIM:619721	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2; BRYLIB2
HP:0000177	HP:0000322	Short philtrum	2	H4C11 CL E G H	8363	4785	OMIM:619759	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 2; TEVANED2
HP:0000177	HP:0000161	Median cleft lip	2	H4C3 CL E G H	8364	4787	OMIM:619758	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1
HP:0000177	HP:0000219	Thin upper lip vermilion	2	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0000177	HP:0000319	Smooth philtrum	2	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0000177	HP:0000322	Short philtrum	2	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0000177	HP:0002002	Deep philtrum	2	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0000177	HP:0000322	Short philtrum	2	H4C9 CL E G H	8294	4793	OMIM:619951
HP:0000177	HP:0002002	Deep philtrum	2	H4C9 CL E G H	8294	4793	OMIM:619951
HP:0000177	HP:0010803	Everted upper lip vermilion	2	H4C9 CL E G H	8294	4793	OMIM:619951
HP:0000177	HP:0000322	Short philtrum	2	HDAC6 CL E G H	10013	14064	ORPHA:163966	X-linked dominant chondrodysplasia, Chassaing-Lacombe type	HP:0040283 - Occasional		2
HP:0000177	HP:0000343	Long philtrum	2	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent		37
HP:0000177	HP:0000343	Long philtrum	2	HDAC8 CL E G H	55869	13315	OMIM:300882	Cornelia de Lange syndrome 5			37
HP:0000177	HP:0000219	Thin upper lip vermilion	2	HDAC8 CL E G H	55869	13315	ORPHA:3459	Wilson-Turner syndrome	HP:0040281 - Very frequent		37
HP:0000177	HP:0000219	Thin upper lip vermilion	2	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome			38
HP:0000177	HP:0000343	Long philtrum	2	HES7 CL E G H	84667	15977	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional		10
HP:0000177	HP:0000161	Median cleft lip	2	HESX1 CL E G H	8820	4877	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms			21
HP:0000177	HP:0000322	Short philtrum	2	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		3
HP:0000177	HP:0000343	Long philtrum	2	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent		3
HP:0000177	HP:0000219	Thin upper lip vermilion	2	HIVEP2 CL E G H	3097	4921	OMIM:616977	Mental retardation, autosomal dominant 43			13
HP:0000177	HP:0000322	Short philtrum	2	HIVEP2 CL E G H	3097	4921	OMIM:616977	Mental retardation, autosomal dominant 43			13
HP:0000177	HP:0000219	Thin upper lip vermilion	2	HK1 CL E G H	3098	4922	OMIM:618547	NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES; NEDVIBA			11
HP:0000177	HP:0000322	Short philtrum	2	HNRNPH2 CL E G H	3188	5042	OMIM:300986	MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB			3
HP:0000177	HP:0002263	Exaggerated cupid's bow	2	HNRNPK CL E G H	3190	5044	ORPHA:352665	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion	HP:0040283 - Occasional		8
HP:0000177	HP:0002263	Exaggerated cupid's bow	2	HNRNPK CL E G H	3190	5044	ORPHA:453504	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation	HP:0040283 - Occasional		8
HP:0000177	HP:0000319	Smooth philtrum	2	HNRNPU CL E G H	3192	5048	ORPHA:238769	1q44 microdeletion syndrome	HP:0040282 - Frequent		39
HP:0000177	HP:0002263	Exaggerated cupid's bow	2	HNRNPU CL E G H	3192	5048	ORPHA:238769	1q44 microdeletion syndrome	HP:0040281 - Very frequent		39
HP:0000177	HP:0000319	Smooth philtrum	2	HOXB1 CL E G H	3211	5111	OMIM:614744	Facial paresis, hereditary congenital, 3	HP:0040283 - Occasional		2
HP:0000177	HP:0000322	Short philtrum	2	HOXB1 CL E G H	3211	5111	OMIM:614744	Facial paresis, hereditary congenital, 3			2
HP:0000177	HP:0010804	Tented upper lip vermilion	2	HOXB1 CL E G H	3211	5111	OMIM:614744	Facial paresis, hereditary congenital, 3			2
HP:0000177	HP:0100335	Non-midline cleft lip	2	HOXD13 CL E G H	3239	5136	ORPHA:887	VACTERL/VATER association	HP:0040283 - Occasional		25
HP:0000177	HP:0000343	Long philtrum	2	HPDL CL E G H	84842	28242	OMIM:619026	NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA
HP:0000177	HP:0000343	Long philtrum	2	HRAS CL E G H	3265	5173	OMIM:137550	Melanocytic nevus syndrome, congenital	.		113
HP:0000177	HP:0002002	Deep philtrum	2	HRAS CL E G H	3265	5173	OMIM:137550	Melanocytic nevus syndrome, congenital	.		113
HP:0000177	HP:0000219	Thin upper lip vermilion	2	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0000177	HP:0002002	Deep philtrum	2	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0000177	HP:0000343	Long philtrum	2	HSD17B4 CL E G H	3295	5213	OMIM:261515	D-bifunctional protein deficiency			98
HP:0000177	HP:0000343	Long philtrum	2	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent		345
HP:0000177	HP:0000343	Long philtrum	2	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome	HP:0040283 - Occasional		345
HP:0000177	HP:0002002	Deep philtrum	2	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1			345
HP:0000177	HP:0000219	Thin upper lip vermilion	2	HUWE1 CL E G H	10075	30892	OMIM:309590	Mental retardation, x-linked syndromic, Turner type			98
HP:0000177	HP:0000322	Short philtrum	2	HUWE1 CL E G H	10075	30892	OMIM:309590	Mental retardation, x-linked syndromic, Turner type			98
HP:0000177	HP:0000343	Long philtrum	2	HUWE1 CL E G H	10075	30892	OMIM:309590	Mental retardation, x-linked syndromic, Turner type	.		98
HP:0000177	HP:0100335	Non-midline cleft lip	2	HYLS1 CL E G H	219844	26558	ORPHA:2189	Hydrolethalus			31
HP:0000177	HP:0000161	Median cleft lip	2	HYLS1 CL E G H	219844	26558	OMIM:236680	Hydrolethalus syndrome 1	.		31
HP:0000177	HP:0000343	Long philtrum	2	IARS2 CL E G H	55699	29685	OMIM:616007	Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia	.		25
HP:0000177	HP:0000343	Long philtrum	2	IDH1 CL E G H	3417	5382	ORPHA:99646	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria			15
HP:0000177	HP:0010804	Tented upper lip vermilion	2	IER3IP1 CL E G H	51124	18550	OMIM:614231	Microcephaly, epilepsy, and diabetes syndrome	.		6
HP:0000177	HP:0000219	Thin upper lip vermilion	2	IFIH1 CL E G H	64135	18873	OMIM:182250	Singleton-Merten syndrome 1			28
HP:0000177	HP:0000319	Smooth philtrum	2	IFIH1 CL E G H	64135	18873	OMIM:182250	Singleton-Merten syndrome 1	.		28
HP:0000177	HP:0000319	Smooth philtrum	2	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly			148
HP:0000177	HP:0000219	Thin upper lip vermilion	2	IFT43 CL E G H	112752	29669	OMIM:617866	SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY; SRTD18			11
HP:0000177	HP:0000322	Short philtrum	2	IFT57 CL E G H	55081	17367	OMIM:617927	Orofaciodigital syndrome XVIII	.
HP:0000177	HP:0000343	Long philtrum	2	IFT80 CL E G H	57560	29262	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040282 - Frequent		65
HP:0000177	HP:0000343	Long philtrum	2	IFT81 CL E G H	28981	14313	OMIM:617895	Short-Rib thoracic dysplasia 19 with or without polydactyly			2
HP:0000177	HP:0000319	Smooth philtrum	2	IGF1R CL E G H	3480	5465	ORPHA:73273	Growth delay due to insulin-like growth factor I resistance	HP:0040282 - Frequent		268
HP:0000177	HP:0000219	Thin upper lip vermilion	2	IGF1R CL E G H	3480	5465	OMIM:270450	Insulin-Like growth factor I, resistance to			268
HP:0000177	HP:0000319	Smooth philtrum	2	IGF1R CL E G H	3480	5465	OMIM:270450	Insulin-Like growth factor I, resistance to	.		268
HP:0000177	HP:0000343	Long philtrum	2	IGF1R CL E G H	3480	5465	OMIM:270450	Insulin-Like growth factor I, resistance to	.		268
HP:0000177	HP:0010804	Tented upper lip vermilion	2	IL1RAPL1 CL E G H	11141	5996	OMIM:300143	Mental retardation, X-linked 21	.		42
HP:0000177	HP:0002002	Deep philtrum	2	IL6ST CL E G H	3572	6021	OMIM:619750	IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES; IMD94
HP:0000177	HP:0000343	Long philtrum	2	INPPL1 CL E G H	3636	6080	OMIM:258480	OPSISMODYSPLASIA	.		18
HP:0000177	HP:0000343	Long philtrum	2	INTS1 CL E G H	26173	24555	OMIM:618571	NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES; NDCAGF
HP:0000177	HP:0002002	Deep philtrum	2	INTS1 CL E G H	26173	24555	OMIM:618571	NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES; NDCAGF
HP:0000177	HP:0000161	Median cleft lip	2	INTU CL E G H	27152	29239	OMIM:617926	OROFACIODIGITAL SYNDROME XVII; OFD17
HP:0000177	HP:0000219	Thin upper lip vermilion	2	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0000177	HP:0000322	Short philtrum	2	IQSEC2 CL E G H	23096	29059	ORPHA:819	Smith-Magenis syndrome	HP:0040282 - Frequent		119
HP:0000177	HP:0010804	Tented upper lip vermilion	2	IQSEC2 CL E G H	23096	29059	ORPHA:819	Smith-Magenis syndrome	HP:0040281 - Very frequent		119
HP:0000177	HP:0000322	Short philtrum	2	IREB2 CL E G H	3658	6115	OMIM:618451	Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia	.
HP:0000177	HP:0000219	Thin upper lip vermilion	2	IRF6 CL E G H	3664	6121	ORPHA:1300	Autosomal dominant popliteal pterygium syndrome	HP:0040281 - Very frequent		99
HP:0000177	HP:0100335	Non-midline cleft lip	2	IRF6 CL E G H	3664	6121	ORPHA:1300	Autosomal dominant popliteal pterygium syndrome	HP:0040282 - Frequent		99
HP:0000177	HP:0100335	Non-midline cleft lip	2	IRF6 CL E G H	3664	6121	ORPHA:199302	Isolated cleft lip	HP:0040282 - Frequent		99
HP:0000177	HP:0000219	Thin upper lip vermilion	2	IRX5 CL E G H	10265	14361	OMIM:611174	Hamamy syndrome			4
HP:0000177	HP:0000319	Smooth philtrum	2	IRX5 CL E G H	10265	14361	OMIM:611174	Hamamy syndrome	.		4
HP:0000177	HP:0000343	Long philtrum	2	IRX5 CL E G H	10265	14361	OMIM:611174	Hamamy syndrome	.		4
HP:0000177	HP:0000322	Short philtrum	2	ITCH CL E G H	83737	13890	OMIM:613385	AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD			3
HP:0000177	HP:0100335	Non-midline cleft lip	2	ITGA8 CL E G H	8516	6144	ORPHA:1848	Renal agenesis, bilateral	HP:0040283 - Occasional		4
HP:0000177	HP:0000322	Short philtrum	2	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		2
HP:0000177	HP:0000343	Long philtrum	2	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent		2
HP:0000177	HP:0000343	Long philtrum	2	KARS1 CL E G H	3735	6215	OMIM:619147	LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS; LEPID
HP:0000177	HP:0100335	Non-midline cleft lip	2	KAT5 CL E G H	10524	5275	OMIM:619103	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB			1
HP:0000177	HP:0000219	Thin upper lip vermilion	2	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome	.		34
HP:0000177	HP:0000322	Short philtrum	2	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome			34
HP:0000177	HP:0000219	Thin upper lip vermilion	2	KAT6A CL E G H	7994	13013	ORPHA:457193	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	HP:0040281 - Very frequent		34
HP:0000177	HP:0000343	Long philtrum	2	KAT6B CL E G H	23522	17582	ORPHA:85201	Genitopatellar syndrome	HP:0040282 - Frequent		141
HP:0000177	HP:0000219	Thin upper lip vermilion	2	KATNB1 CL E G H	10300	6217	OMIM:616212	Lissencephaly 6, with microcephaly			10
HP:0000177	HP:0000343	Long philtrum	2	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent		1
HP:0000177	HP:0000343	Long philtrum	2	KCNH1 CL E G H	3756	6250	ORPHA:420561	Temple-Baraitser syndrome	HP:0040282 - Frequent		13
HP:0000177	HP:0000343	Long philtrum	2	KCNH1 CL E G H	3756	6250	OMIM:611816	Temple-Baraitser syndrome	.		13
HP:0000177	HP:0010803	Everted upper lip vermilion	2	KCNH1 CL E G H	3756	6250	ORPHA:420561	Temple-Baraitser syndrome	HP:0040283 - Occasional		13
HP:0000177	HP:0010804	Tented upper lip vermilion	2	KCNH1 CL E G H	3756	6250	ORPHA:420561	Temple-Baraitser syndrome	HP:0040283 - Occasional		13
HP:0000177	HP:0000322	Short philtrum	2	KCNH1 CL E G H	3756	6250	OMIM:135500	Zimmermann-Laband syndrome 1			13
HP:0000177	HP:0000343	Long philtrum	2	KCNH1 CL E G H	3756	6250	OMIM:135500	Zimmermann-Laband syndrome 1			13
HP:0000177	HP:0000343	Long philtrum	2	KCNJ11 CL E G H	3767	6257	ORPHA:79134	DEND syndrome	HP:0040283 - Occasional		127
HP:0000177	HP:0000219	Thin upper lip vermilion	2	KCNJ2 CL E G H	3759	6263	OMIM:170390	Andersen cardiodysrhythmic periodic paralysis			193
HP:0000177	HP:0000219	Thin upper lip vermilion	2	KCNJ2 CL E G H	3759	6263	ORPHA:37553	Andersen-Tawil syndrome	HP:0040283 - Occasional		193
HP:0000177	HP:0000219	Thin upper lip vermilion	2	KCNJ5 CL E G H	3762	6266	ORPHA:37553	Andersen-Tawil syndrome	HP:0040283 - Occasional		128
HP:0000177	HP:0000322	Short philtrum	2	KCNJ6 CL E G H	3763	6267	OMIM:614098	Keppen-Lubinsky syndrome	.		3
HP:0000177	HP:0000322	Short philtrum	2	KCNJ6 CL E G H	3763	6267	ORPHA:435628	Keppen-Lubinsky syndrome	HP:0040281 - Very frequent		3
HP:0000177	HP:0010804	Tented upper lip vermilion	2	KCNJ6 CL E G H	3763	6267	OMIM:614098	Keppen-Lubinsky syndrome	.		3
HP:0000177	HP:0010804	Tented upper lip vermilion	2	KCNJ6 CL E G H	3763	6267	ORPHA:435628	Keppen-Lubinsky syndrome	HP:0040282 - Frequent		3
HP:0000177	HP:0000343	Long philtrum	2	KCNJ8 CL E G H	3764	6269	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type	HP:0040281 - Very frequent		23
HP:0000177	HP:0000219	Thin upper lip vermilion	2	KCNK4 CL E G H	50801	6279	OMIM:618381	Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome
HP:0000177	HP:0000322	Short philtrum	2	KCNK4 CL E G H	50801	6279	OMIM:618381	Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome	.
HP:0000177	HP:0002002	Deep philtrum	2	KCNK4 CL E G H	50801	6279	OMIM:618381	Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome	.
HP:0000177	HP:0010803	Everted upper lip vermilion	2	KCNK4 CL E G H	50801	6279	OMIM:618381	Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome	.
HP:0000177	HP:0000322	Short philtrum	2	KCNK9 CL E G H	51305	6283	OMIM:612292	BIRK-BAREL SYNDROME			4
HP:0000177	HP:0010804	Tented upper lip vermilion	2	KCNK9 CL E G H	51305	6283	OMIM:612292	BIRK-BAREL SYNDROME			4
HP:0000177	HP:0000289	Broad philtrum	2	KCNK9 CL E G H	51305	6283	ORPHA:166108	Intellectual disability, Birk-Barel type	HP:0040282 - Frequent		4
HP:0000177	HP:0000322	Short philtrum	2	KCNK9 CL E G H	51305	6283	ORPHA:166108	Intellectual disability, Birk-Barel type	HP:0040282 - Frequent		4
HP:0000177	HP:0010804	Tented upper lip vermilion	2	KCNK9 CL E G H	51305	6283	ORPHA:166108	Intellectual disability, Birk-Barel type	HP:0040282 - Frequent		4
HP:0000177	HP:0000219	Thin upper lip vermilion	2	KCNMA1 CL E G H	3778	6284	OMIM:618729	LIANG-WANG SYNDROME; LIWAS			114
HP:0000177	HP:0000322	Short philtrum	2	KDF1 CL E G H	126695	26624	OMIM:617337	Ectodermal dysplasia 12, Hypohidrotic/hair/tooth/nail type	HP:0040283 - Occasional		1
HP:0000177	HP:0000219	Thin upper lip vermilion	2	KDM1A CL E G H	23028	29079	OMIM:616728	Cleft palate, psychomotor retardation, and distinctive facial features			3
HP:0000177	HP:0000219	Thin upper lip vermilion	2	KDM1A CL E G H	23028	29079	ORPHA:477993	Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome	HP:0040282 - Frequent		3
HP:0000177	HP:0000219	Thin upper lip vermilion	2	KDM3B CL E G H	51780	1337	OMIM:618846	DIETS-JONGMANS SYNDROME; DIJOS
HP:0000177	HP:0000215	Thick upper lip vermilion	2	KDM4B CL E G H	23030	29136	OMIM:619320	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0000177	HP:0000322	Short philtrum	2	KDM4B CL E G H	23030	29136	OMIM:619320	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0000177	HP:0000343	Long philtrum	2	KDM4B CL E G H	23030	29136	OMIM:619320	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0000177	HP:0010804	Tented upper lip vermilion	2	KDM4B CL E G H	23030	29136	OMIM:619320	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0000177	HP:0000319	Smooth philtrum	2	KDM5B CL E G H	10765	18039	OMIM:618109	Mental retardation, autosomal recessive 65			2
HP:0000177	HP:0000219	Thin upper lip vermilion	2	KDM5C CL E G H	8242	11114	OMIM:300534	Mental retardation, X-linked, syndromic, Claes-Jensen type			81
HP:0000177	HP:0000319	Smooth philtrum	2	KDM5C CL E G H	8242	11114	OMIM:300534	Mental retardation, X-linked, syndromic, Claes-Jensen type			81
HP:0000177	HP:0000343	Long philtrum	2	KIAA0753 CL E G H	9851	29110	OMIM:619479	SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY; SRTD21			4
HP:0000177	HP:0000322	Short philtrum	2	KIDINS220 CL E G H	57498	29508	OMIM:617296	SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY; SINO			4
HP:0000177	HP:0000219	Thin upper lip vermilion	2	KIF11 CL E G H	3832	6388	OMIM:152950	Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation	.		46
HP:0000177	HP:0000343	Long philtrum	2	KIF11 CL E G H	3832	6388	OMIM:152950	Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation	.		46
HP:0000177	HP:0002002	Deep philtrum	2	KIF11 CL E G H	3832	6388	OMIM:152950	Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation	.		46
HP:0000177	HP:0000343	Long philtrum	2	KIF11 CL E G H	3832	6388	ORPHA:2526	Microcephaly-lymphedema-chorioretinopathy syndrome	HP:0040283 - Occasional		46
HP:0000177	HP:0000219	Thin upper lip vermilion	2	KIF14 CL E G H	9928	19181	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent		9
HP:0000177	HP:0000219	Thin upper lip vermilion	2	KIF15 CL E G H	56992	17273	ORPHA:261323	21q22.11q22.12 microdeletion syndrome	HP:0040283 - Occasional
HP:0000177	HP:0000319	Smooth philtrum	2	KIF15 CL E G H	56992	17273	ORPHA:261323	21q22.11q22.12 microdeletion syndrome	HP:0040283 - Occasional
HP:0000177	HP:0000319	Smooth philtrum	2	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome			167
HP:0000177	HP:0000322	Short philtrum	2	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome			167
HP:0000177	HP:0000343	Long philtrum	2	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome			167
HP:0000177	HP:0002263	Exaggerated cupid's bow	2	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome			167
HP:0000177	HP:0010803	Everted upper lip vermilion	2	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome			167
HP:0000177	HP:0100335	Non-midline cleft lip	2	KIF7 CL E G H	374654	30497	ORPHA:2189	Hydrolethalus			167
HP:0000177	HP:0000322	Short philtrum	2	KIFBP CL E G H	26128	23419	OMIM:609460	Goldberg-Shprintzen syndrome	.
HP:0000177	HP:0000343	Long philtrum	2	KIT CL E G H	3815	6342	ORPHA:2884	Piebaldism	HP:0040283 - Occasional		327
HP:0000177	HP:0000343	Long philtrum	2	KLHL41 CL E G H	10324	16905	ORPHA:171433	Intermediate nemaline myopathy	HP:0040283 - Occasional		13
HP:0000177	HP:0000219	Thin upper lip vermilion	2	KMT2A CL E G H	4297	7132	ORPHA:319182	Wiedemann-Steiner syndrome	HP:0040282 - Frequent		91
HP:0000177	HP:0000219	Thin upper lip vermilion	2	KMT2A CL E G H	4297	7132	OMIM:605130	Wiedemann-Steiner syndrome	.		91
HP:0000177	HP:0000343	Long philtrum	2	KMT2A CL E G H	4297	7132	ORPHA:319182	Wiedemann-Steiner syndrome	HP:0040282 - Frequent		91
HP:0000177	HP:0000343	Long philtrum	2	KMT2A CL E G H	4297	7132	OMIM:605130	Wiedemann-Steiner syndrome	.		91
HP:0000177	HP:0000219	Thin upper lip vermilion	2	KNL1 CL E G H	57082	24054	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent		112
HP:0000177	HP:0000343	Long philtrum	2	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040282 - Frequent		196
HP:0000177	HP:0000322	Short philtrum	2	LARP7 CL E G H	51574	24912	OMIM:615071	Alazami syndrome	.		16
HP:0000177	HP:0000322	Short philtrum	2	LARP7 CL E G H	51574	24912	ORPHA:319671	Alazami syndrome	HP:0040282 - Frequent		16
HP:0000177	HP:0000219	Thin upper lip vermilion	2	LAS1L CL E G H	81887	25726	ORPHA:3459	Wilson-Turner syndrome	HP:0040281 - Very frequent		8
HP:0000177	HP:0000319	Smooth philtrum	2	LEMD2 CL E G H	221496	21244	OMIM:619322	MARBACH-RUSTAD PROGEROID SYNDROME; MARUPS			1
HP:0000177	HP:0000322	Short philtrum	2	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0000177	HP:0000322	Short philtrum	2	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent		2
HP:0000177	HP:0000343	Long philtrum	2	LFNG CL E G H	3955	6560	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional		13
HP:0000177	HP:0000161	Median cleft lip	2	LHX4 CL E G H	89884	21734	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms			43
HP:0000177	HP:0000343	Long philtrum	2	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000177	HP:0000219	Thin upper lip vermilion	2	LMBRD1 CL E G H	55788	23038	OMIM:277380	Methylmalonic aciduria and homocystinuria, Cblf type			46
HP:0000177	HP:0000343	Long philtrum	2	LMNB1 CL E G H	4001	6637	OMIM:619179	MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT; MCPH26			44
HP:0000177	HP:0011825	Tented philtrum	2	LMX1B CL E G H	4010	6654	ORPHA:495818	9q33.3q34.11 microdeletion syndrome	HP:0040283 - Occasional		165
HP:0000177	HP:0000322	Short philtrum	2	LRP4 CL E G H	4038	6696	ORPHA:3258	Cenani-Lenz syndrome	HP:0040283 - Occasional		124
HP:0000177	HP:0000322	Short philtrum	2	LRRC32 CL E G H	2615	4161	OMIM:619074	CLEFT PALATE, PROLIFERATIVE RETINOPATHY, AND DEVELOPMENTAL DELAY; CPPRDD
HP:0000177	HP:0000343	Long philtrum	2	LTBP1 CL E G H	4052	6714	OMIM:619451	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE; ARCL2E
HP:0000177	HP:0000343	Long philtrum	2	LTBP3 CL E G H	4054	6716	ORPHA:969	Acromicric dysplasia	HP:0040281 - Very frequent		12
HP:0000177	HP:0000343	Long philtrum	2	LTBP3 CL E G H	4054	6716	OMIM:617809	Geleophysic dysplasia 3	HP:0040284 - Very rare		12
HP:0000177	HP:0000343	Long philtrum	2	LTBP4 CL E G H	8425	6717	OMIM:613177	Cutis laxa, autosomal recessive, type IC	.		92
HP:0000177	HP:0000343	Long philtrum	2	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent
HP:0000177	HP:0000319	Smooth philtrum	2	MAB21L1 CL E G H	4081	6757	OMIM:618479	Cerebellar, ocular, craniofacial, and genital syndrome	.
HP:0000177	HP:0000343	Long philtrum	2	MAB21L1 CL E G H	4081	6757	OMIM:618479	Cerebellar, ocular, craniofacial, and genital syndrome	.
HP:0000177	HP:0011825	Tented philtrum	2	MAB21L1 CL E G H	4081	6757	OMIM:618479	Cerebellar, ocular, craniofacial, and genital syndrome	.
HP:0000177	HP:0000343	Long philtrum	2	MAB21L2 CL E G H	10586	6758	OMIM:615877	Microphthalmia/coloboma and skeletal dysplasia syndrome			5
HP:0000177	HP:0000322	Short philtrum	2	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH			5
HP:0000177	HP:0000343	Long philtrum	2	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH			5
HP:0000177	HP:0000219	Thin upper lip vermilion	2	MAF CL E G H	4094	6776	ORPHA:1272	Aymé-Gripp syndrome	HP:0040282 - Frequent		21
HP:0000177	HP:0000343	Long philtrum	2	MAF CL E G H	4094	6776	ORPHA:1272	Aymé-Gripp syndrome	HP:0040282 - Frequent		21
HP:0000177	HP:0000219	Thin upper lip vermilion	2	MAF CL E G H	4094	6776	OMIM:601088	Ayme-Gripp syndrome			21
HP:0000177	HP:0000289	Broad philtrum	2	MAF CL E G H	4094	6776	OMIM:601088	Ayme-Gripp syndrome	.		21
HP:0000177	HP:0000319	Smooth philtrum	2	MAF CL E G H	4094	6776	OMIM:601088	Ayme-Gripp syndrome	.		21
HP:0000177	HP:0000343	Long philtrum	2	MAF CL E G H	4094	6776	OMIM:601088	Ayme-Gripp syndrome			21
HP:0000177	HP:0000219	Thin upper lip vermilion	2	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome	HP:0040283 - Occasional		63
HP:0000177	HP:0000219	Thin upper lip vermilion	2	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome			63
HP:0000177	HP:0000219	Thin upper lip vermilion	2	MAGEL2 CL E G H	54551	6814	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040283 - Occasional		63
HP:0000177	HP:0000219	Thin upper lip vermilion	2	MAN1B1 CL E G H	11253	6823	ORPHA:397941	MAN1B1-CDG	HP:0040283 - Occasional		93
HP:0000177	HP:0000319	Smooth philtrum	2	MAN1B1 CL E G H	11253	6823	ORPHA:397941	MAN1B1-CDG	HP:0040283 - Occasional		93
HP:0000177	HP:0000322	Short philtrum	2	MAN1B1 CL E G H	11253	6823	ORPHA:397941	MAN1B1-CDG	HP:0040283 - Occasional		93
HP:0000177	HP:0000219	Thin upper lip vermilion	2	MAN1B1 CL E G H	11253	6823	OMIM:614202	Rafiq syndrome			93
HP:0000177	HP:0000319	Smooth philtrum	2	MAN1B1 CL E G H	11253	6823	OMIM:614202	Rafiq syndrome	.		93
HP:0000177	HP:0000322	Short philtrum	2	MAN1B1 CL E G H	11253	6823	OMIM:614202	Rafiq syndrome			93
HP:0000177	HP:0005326	Hypoplastic philtrum	2	MAP1B CL E G H	4131	6836	OMIM:618918	PERIVENTRICULAR NODULAR HETEROTOPIA 9; PVNH9
HP:0000177	HP:0010803	Everted upper lip vermilion	2	MAP1B CL E G H	4131	6836	OMIM:618918	PERIVENTRICULAR NODULAR HETEROTOPIA 9; PVNH9
HP:0000177	HP:0000343	Long philtrum	2	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040282 - Frequent		134
HP:0000177	HP:0000343	Long philtrum	2	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040282 - Frequent		178
HP:0000177	HP:0000343	Long philtrum	2	MAP3K7 CL E G H	6885	6859	OMIM:157800	Cardiospondylocarpofacial syndrome	.		11
HP:0000177	HP:0000322	Short philtrum	2	MAP3K7 CL E G H	6885	6859	OMIM:617137	Frontometaphyseal dysplasia 2	.		11
HP:0000177	HP:0002002	Deep philtrum	2	MAP3K7 CL E G H	6885	6859	OMIM:617137	Frontometaphyseal dysplasia 2	.		11
HP:0000177	HP:0000219	Thin upper lip vermilion	2	MAPK1 CL E G H	5594	6871	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040282 - Frequent		2
HP:0000177	HP:0000319	Smooth philtrum	2	MAPK1 CL E G H	5594	6871	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040281 - Very frequent		2
HP:0000177	HP:0000343	Long philtrum	2	MAPK1 CL E G H	5594	6871	OMIM:619087	NOONAN SYNDROME 13; NS13			2
HP:0000177	HP:0010806	U-Shaped upper lip vermilion	2	MAPK1 CL E G H	5594	6871	OMIM:619087	NOONAN SYNDROME 13; NS13			2
HP:0000177	HP:0000219	Thin upper lip vermilion	2	MAPK8IP3 CL E G H	23162	6884	OMIM:618443	Neurodevelopmental disorder with or without variable brain abnormalities	.
HP:0000177	HP:0000322	Short philtrum	2	MAPK8IP3 CL E G H	23162	6884	OMIM:618443	Neurodevelopmental disorder with or without variable brain abnormalities	.
HP:0000177	HP:0000343	Long philtrum	2	MAPK8IP3 CL E G H	23162	6884	OMIM:618443	Neurodevelopmental disorder with or without variable brain abnormalities	.
HP:0000177	HP:0000343	Long philtrum	2	MAPRE2 CL E G H	10982	6891	ORPHA:2505	Multiple benign circumferential skin creases on limbs	HP:0040283 - Occasional		4
HP:0000177	HP:0000219	Thin upper lip vermilion	2	MAPRE2 CL E G H	10982	6891	OMIM:616734	Skin creases, congenital symmetric circumferential, 2			4
HP:0000177	HP:0000343	Long philtrum	2	MARS2 CL E G H	92935	25133	OMIM:616430	Combined oxidative phosphorylation deficiency 25	.		25
HP:0000177	HP:0010804	Tented upper lip vermilion	2	MBD5 CL E G H	55777	20444	ORPHA:228402	2q23.1 microdeletion syndrome	HP:0040282 - Frequent		252
HP:0000177	HP:0000219	Thin upper lip vermilion	2	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1	.		252
HP:0000177	HP:0000219	Thin upper lip vermilion	2	MCM7 CL E G H	4176	6950	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent
HP:0000177	HP:0000219	Thin upper lip vermilion	2	MCPH1 CL E G H	79648	6954	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent		155
HP:0000177	HP:0000219	Thin upper lip vermilion	2	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q	HP:0040282 - Frequent		3
HP:0000177	HP:0000322	Short philtrum	2	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q	HP:0040282 - Frequent		3
HP:0000177	HP:0010804	Tented upper lip vermilion	2	MECP2 CL E G H	4204	6990	OMIM:300260	Mental retardation, x-linked syndromic, Lubs type	.		950
HP:0000177	HP:0010804	Tented upper lip vermilion	2	MECP2 CL E G H	4204	6990	ORPHA:1762	Proximal Xq28 duplication syndrome	HP:0040281 - Very frequent		950
HP:0000177	HP:0000343	Long philtrum	2	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1	HP:0040282 - Frequent		228
HP:0000177	HP:0100335	Non-midline cleft lip	2	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR			228
HP:0000177	HP:0000219	Thin upper lip vermilion	2	MED12 CL E G H	9968	11957	OMIM:309520	Lujan-Fryns syndrome			228
HP:0000177	HP:0000322	Short philtrum	2	MED12 CL E G H	9968	11957	ORPHA:776	Lujan-Fryns syndrome	HP:0040282 - Frequent		228
HP:0000177	HP:0000322	Short philtrum	2	MED12 CL E G H	9968	11957	OMIM:309520	Lujan-Fryns syndrome	.		228
HP:0000177	HP:0002002	Deep philtrum	2	MED12 CL E G H	9968	11957	OMIM:309520	Lujan-Fryns syndrome	.		228
HP:0000177	HP:0000319	Smooth philtrum	2	MED12 CL E G H	9968	11957	OMIM:300895	Ohdo syndrome, X-linked	.		228
HP:0000177	HP:0000343	Long philtrum	2	MED12 CL E G H	9968	11957	OMIM:300895	Ohdo syndrome, X-linked	.		228
HP:0000177	HP:0000343	Long philtrum	2	MED12 CL E G H	9968	11957	OMIM:305450	Opitz-Kaveggia syndrome	.		228
HP:0000177	HP:0000219	Thin upper lip vermilion	2	MED12L CL E G H	116931	16050	OMIM:618872	NIZON-ISIDOR SYNDROME; NIZIDS
HP:0000177	HP:0000322	Short philtrum	2	MED12L CL E G H	116931	16050	OMIM:618872	NIZON-ISIDOR SYNDROME; NIZIDS
HP:0000177	HP:0000219	Thin upper lip vermilion	2	MED13 CL E G H	9969	22474	OMIM:618009	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 61; MRD61			4
HP:0000177	HP:0000319	Smooth philtrum	2	MED13 CL E G H	9969	22474	OMIM:618009	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 61; MRD61			4
HP:0000177	HP:0000322	Short philtrum	2	MED25 CL E G H	81857	28845	OMIM:616449	Basel-Vanagaite-Smirin-Yosef syndrome	.		43
HP:0000177	HP:0000322	Short philtrum	2	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome	HP:0040282 - Frequent		43
HP:0000177	HP:0002263	Exaggerated cupid's bow	2	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome	HP:0040282 - Frequent		43
HP:0000177	HP:0010804	Tented upper lip vermilion	2	MED25 CL E G H	81857	28845	OMIM:616449	Basel-Vanagaite-Smirin-Yosef syndrome	.		43
HP:0000177	HP:0010804	Tented upper lip vermilion	2	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome	HP:0040282 - Frequent		43
HP:0000177	HP:0002263	Exaggerated cupid's bow	2	MED27 CL E G H	9442	2377	OMIM:619286	NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA; NEDSCAC
HP:0000177	HP:0000322	Short philtrum	2	MEF2C CL E G H	4208	6996	ORPHA:228384	5q14.3 microdeletion syndrome	HP:0040282 - Frequent		132
HP:0000177	HP:0000219	Thin upper lip vermilion	2	MEF2C CL E G H	4208	6996	OMIM:613443	Mental retardation, autosomal dominant 20			132
HP:0000177	HP:0000322	Short philtrum	2	MEF2C CL E G H	4208	6996	OMIM:613443	Mental retardation, autosomal dominant 20	.		132
HP:0000177	HP:0002263	Exaggerated cupid's bow	2	MEG3 CL E G H	55384	14575	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion	HP:0040283 - Occasional		1
HP:0000177	HP:0000322	Short philtrum	2	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:0000177	HP:0000343	Long philtrum	2	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:0000177	HP:0002002	Deep philtrum	2	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040282 - Frequent		1
HP:0000177	HP:0010804	Tented upper lip vermilion	2	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:0000177	HP:0000322	Short philtrum	2	MEG3 CL E G H	55384	14575	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14	HP:0040283 - Occasional		1
HP:0000177	HP:0000322	Short philtrum	2	MEG3 CL E G H	55384	14575	ORPHA:254531	Temple syndrome due to paternal 14q32.2 hypomethylation	HP:0040283 - Occasional		1
HP:0000177	HP:0000343	Long philtrum	2	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2			13
HP:0000177	HP:0000319	Smooth philtrum	2	MEIS2 CL E G H	4212	7001	ORPHA:261190	15q14 microdeletion syndrome	HP:0040282 - Frequent		7
HP:0000177	HP:0000322	Short philtrum	2	MEIS2 CL E G H	4212	7001	ORPHA:261190	15q14 microdeletion syndrome	HP:0040282 - Frequent		7
HP:0000177	HP:0000343	Long philtrum	2	MEIS2 CL E G H	4212	7001	ORPHA:261190	15q14 microdeletion syndrome	HP:0040283 - Occasional		7
HP:0000177	HP:0000219	Thin upper lip vermilion	2	MEIS2 CL E G H	4212	7001	OMIM:600987	Cleft palate, cardiac defects, and mental retardation			7
HP:0000177	HP:0010804	Tented upper lip vermilion	2	MEIS2 CL E G H	4212	7001	OMIM:600987	Cleft palate, cardiac defects, and mental retardation	.		7
HP:0000177	HP:0010804	Tented upper lip vermilion	2	MESD CL E G H	23184	13520	OMIM:618644	OSTEOGENESIS IMPERFECTA, TYPE XX; OI20
HP:0000177	HP:0000343	Long philtrum	2	MESP2 CL E G H	145873	29659	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional		45
HP:0000177	HP:0000343	Long philtrum	2	METTL23 CL E G H	124512	26988	OMIM:615942	Mental retardation, autosomal recessive 44	HP:0040283 - Occasional		13
HP:0000177	HP:0000343	Long philtrum	2	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent		1
HP:0000177	HP:0000219	Thin upper lip vermilion	2	METTL5 CL E G H	29081	25006	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent
HP:0000177	HP:0000219	Thin upper lip vermilion	2	METTL5 CL E G H	29081	25006	OMIM:618665	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 72; MRT72
HP:0000177	HP:0000343	Long philtrum	2	METTL5 CL E G H	29081	25006	OMIM:618665	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 72; MRT72
HP:0000177	HP:0000219	Thin upper lip vermilion	2	MFSD2A CL E G H	84879	25897	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent		5
HP:0000177	HP:0002002	Deep philtrum	2	MGP CL E G H	4256	7060	OMIM:245150	Keutel syndrome	.		33
HP:0000177	HP:0010804	Tented upper lip vermilion	2	MICU1 CL E G H	10367	1530	OMIM:615673	Myopathy with extrapyramidal signs			14
HP:0000177	HP:0000343	Long philtrum	2	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome	HP:0040281 - Very frequent		57
HP:0000177	HP:0000219	Thin upper lip vermilion	2	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I			57
HP:0000177	HP:0000319	Smooth philtrum	2	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I	.		57
HP:0000177	HP:0100335	Non-midline cleft lip	2	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I			57
HP:0000177	HP:0000322	Short philtrum	2	MID2 CL E G H	11043	7096	OMIM:300928	MENTAL RETARDATION, X-LINKED 101; MRX101			7
HP:0000177	HP:0000215	Thick upper lip vermilion	2	MINPP1 CL E G H	9562	7102	ORPHA:284339	Pontocerebellar hypoplasia type 7	HP:0040282 - Frequent		3
HP:0000177	HP:0000219	Thin upper lip vermilion	2	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome			5
HP:0000177	HP:0000219	Thin upper lip vermilion	2	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0000177	HP:0000219	Thin upper lip vermilion	2	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1			127
HP:0000177	HP:0000319	Smooth philtrum	2	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1			127
HP:0000177	HP:0000343	Long philtrum	2	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent		1
HP:0000177	HP:0000343	Long philtrum	2	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome			1
HP:0000177	HP:0000319	Smooth philtrum	2	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC	HP:0040284 - Very rare		101
HP:0000177	HP:0000319	Smooth philtrum	2	MMACHC CL E G H	25974	24525	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type	.		101
HP:0000177	HP:0000343	Long philtrum	2	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent
HP:0000177	HP:0000343	Long philtrum	2	MOCS1 CL E G H	4337	7190	OMIM:252150	Molybdenum cofactor deficiency, complementation group A	.		96
HP:0000177	HP:0000343	Long philtrum	2	MOCS2 CL E G H	4338	7193	OMIM:252160	Molybdenum cofactor deficiency, complementation group B	.		26
HP:0000177	HP:0000219	Thin upper lip vermilion	2	MPC1 CL E G H	51660	21606	OMIM:614741	Mitochondrial pyruvate carrier deficiency	HP:0040283 - Occasional		6
HP:0000177	HP:0000343	Long philtrum	2	MPC1 CL E G H	51660	21606	OMIM:614741	Mitochondrial pyruvate carrier deficiency	HP:0040283 - Occasional		6
HP:0000177	HP:0000343	Long philtrum	2	MRPS28 CL E G H	28957	14513	OMIM:618958	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 47; COXPD47
HP:0000177	HP:0000319	Smooth philtrum	2	MSL3 CL E G H	10943	7370	OMIM:301032	BASILICATA-AKHTAR SYNDROME; MRXSBA
HP:0000177	HP:0010804	Tented upper lip vermilion	2	MSL3 CL E G H	10943	7370	OMIM:301032	BASILICATA-AKHTAR SYNDROME; MRXSBA
HP:0000177	HP:0100335	Non-midline cleft lip	2	MSX1 CL E G H	4487	7391	ORPHA:199302	Isolated cleft lip	HP:0040282 - Frequent		12
HP:0000177	HP:0000343	Long philtrum	2	MTOR CL E G H	2475	3942	ORPHA:457485	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome	HP:0040283 - Occasional		68
HP:0000177	HP:0000219	Thin upper lip vermilion	2	MTOR CL E G H	2475	3942	OMIM:616638	Smith-Kingsmore syndrome	.		68
HP:0000177	HP:0000319	Smooth philtrum	2	MTOR CL E G H	2475	3942	OMIM:616638	Smith-Kingsmore syndrome	.		68
HP:0000177	HP:0000343	Long philtrum	2	MTOR CL E G H	2475	3942	OMIM:616638	Smith-Kingsmore syndrome	.		68
HP:0000177	HP:0000322	Short philtrum	2	MTX2 CL E G H	10651	7506	OMIM:619127	MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0000177	HP:0000343	Long philtrum	2	MTX2 CL E G H	10651	7506	OMIM:619127	MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0000177	HP:0000343	Long philtrum	2	MUSK CL E G H	4593	7525	OMIM:208150	Fetal akinesia deformation sequence	.		72
HP:0000177	HP:0000343	Long philtrum	2	MYH3 CL E G H	4621	7573	OMIM:193700	Arthrogryposis, distal, type 2A	.		166
HP:0000177	HP:0000343	Long philtrum	2	MYH3 CL E G H	4621	7573	ORPHA:2990	Autosomal recessive multiple pterygium syndrome	HP:0040283 - Occasional		166
HP:0000177	HP:0000343	Long philtrum	2	MYH3 CL E G H	4621	7573	ORPHA:2053	Freeman-Sheldon syndrome	HP:0040282 - Frequent		166
HP:0000177	HP:0002002	Deep philtrum	2	MYH8 CL E G H	4626	7578	OMIM:158300	Arthrogryposis, distal, type 7	HP:0040283 - Occasional		93
HP:0000177	HP:0010804	Tented upper lip vermilion	2	MYL2 CL E G H	4633	7583	OMIM:619424	MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY; MFM12			131
HP:0000177	HP:0000343	Long philtrum	2	MYMK CL E G H	389827	33778	ORPHA:1358	Carey-Fineman-Ziter syndrome	HP:0040281 - Very frequent		5
HP:0000177	HP:0000219	Thin upper lip vermilion	2	MYMX CL E G H	101929726	52391	OMIM:619941
HP:0000177	HP:0000343	Long philtrum	2	MYMX CL E G H	101929726	52391	OMIM:619941
HP:0000177	HP:0000343	Long philtrum	2	MYMX CL E G H	101929726	52391	ORPHA:1358	Carey-Fineman-Ziter syndrome	HP:0040281 - Very frequent
HP:0000177	HP:0000219	Thin upper lip vermilion	2	MYO18B CL E G H	84700	18150	OMIM:616549	Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism			5
HP:0000177	HP:0000343	Long philtrum	2	MYO18B CL E G H	84700	18150	OMIM:616549	Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism			5
HP:0000177	HP:0000319	Smooth philtrum	2	MYOD1 CL E G H	4654	7611	OMIM:618975	MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES; MYODRIF
HP:0000177	HP:0000343	Long philtrum	2	MYOD1 CL E G H	4654	7611	OMIM:618975	MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES; MYODRIF
HP:0000177	HP:0010804	Tented upper lip vermilion	2	MYOD1 CL E G H	4654	7611	OMIM:618975	MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES; MYODRIF
HP:0000177	HP:0000215	Thick upper lip vermilion	2	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome	.		23
HP:0000177	HP:0000219	Thin upper lip vermilion	2	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome	.		23
HP:0000177	HP:0000322	Short philtrum	2	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome			23
HP:0000177	HP:0000343	Long philtrum	2	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome			23
HP:0000177	HP:0002002	Deep philtrum	2	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome	.		23
HP:0000177	HP:0010803	Everted upper lip vermilion	2	NAA10 CL E G H	8260	18704	ORPHA:276432	Ogden syndrome	HP:0040283 - Occasional		23
HP:0000177	HP:0010803	Everted upper lip vermilion	2	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome	.		23
HP:0000177	HP:0000215	Thick upper lip vermilion	2	NAA20 CL E G H	51126	15908	OMIM:619717	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73; MRT73
HP:0000177	HP:0002002	Deep philtrum	2	NAA20 CL E G H	51126	15908	OMIM:619717	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73; MRT73
HP:0000177	HP:0000343	Long philtrum	2	NALCN CL E G H	259232	19082	OMIM:616266	Congenital contractures of the limbs and face, hypotonia, and developmental delay	.		48
HP:0000177	HP:0000343	Long philtrum	2	NALCN CL E G H	259232	19082	ORPHA:2053	Freeman-Sheldon syndrome	HP:0040282 - Frequent		48
HP:0000177	HP:0000219	Thin upper lip vermilion	2	NALCN CL E G H	259232	19082	OMIM:615419	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1	.		48
HP:0000177	HP:0000319	Smooth philtrum	2	NALCN CL E G H	259232	19082	OMIM:615419	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1	.		48
HP:0000177	HP:0000219	Thin upper lip vermilion	2	NALCN CL E G H	259232	19082	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome	HP:0040282 - Frequent		48
HP:0000177	HP:0000319	Smooth philtrum	2	NALCN CL E G H	259232	19082	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome	HP:0040282 - Frequent		48
HP:0000177	HP:0000322	Short philtrum	2	NALCN CL E G H	259232	19082	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome	HP:0040282 - Frequent		48
HP:0000177	HP:0010804	Tented upper lip vermilion	2	NALCN CL E G H	259232	19082	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome	HP:0040282 - Frequent		48
HP:0000177	HP:0000343	Long philtrum	2	NARS2 CL E G H	79731	26274	ORPHA:79134	DEND syndrome	HP:0040283 - Occasional		34
HP:0000177	HP:0000343	Long philtrum	2	NBAS CL E G H	51594	15625	OMIM:614800	Short stature, optic nerve atrophy, and pelger-huet anomaly	.		25
HP:0000177	HP:0002002	Deep philtrum	2	NBN CL E G H	4683	7652	ORPHA:647	Nijmegen breakage syndrome	HP:0040281 - Very frequent		706
HP:0000177	HP:0100335	Non-midline cleft lip	2	NBN CL E G H	4683	7652	ORPHA:647	Nijmegen breakage syndrome	HP:0040283 - Occasional		706
HP:0000177	HP:0000219	Thin upper lip vermilion	2	NCAPD3 CL E G H	23310	28952	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent		1
HP:0000177	HP:0010804	Tented upper lip vermilion	2	NCAPG2 CL E G H	54892	21904	OMIM:618460	Khan-Khan-Katsanis syndrome	.		2
HP:0000177	HP:0000343	Long philtrum	2	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent		13
HP:0000177	HP:0000219	Thin upper lip vermilion	2	NDN CL E G H	4692	7675	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040283 - Occasional
HP:0000177	HP:0000343	Long philtrum	2	NEB CL E G H	4703	7720	ORPHA:171433	Intermediate nemaline myopathy	HP:0040283 - Occasional		745
HP:0000177	HP:0000343	Long philtrum	2	NEB CL E G H	4703	7720	OMIM:256030	Nemaline myopathy 2, autosomal recessive	.		745
HP:0000177	HP:0100335	Non-midline cleft lip	2	NECTIN1 CL E G H	5818	9706	ORPHA:3253	Cleft lip/palate-ectodermal dysplasia syndrome			4
HP:0000177	HP:0100335	Non-midline cleft lip	2	NECTIN1 CL E G H	5818	9706	ORPHA:199302	Isolated cleft lip	HP:0040282 - Frequent		4
HP:0000177	HP:0000161	Median cleft lip	2	NEK1 CL E G H	4750	7744	ORPHA:2751	Orofaciodigital syndrome type 2	HP:0040282 - Frequent		101
HP:0000177	HP:0000161	Median cleft lip	2	NEK1 CL E G H	4750	7744	OMIM:263520	Short-Rib thoracic dysplasia 6 with or without polydactyly	.		101
HP:0000177	HP:0000343	Long philtrum	2	NEK9 CL E G H	91754	18591	OMIM:617022	Lethal congenital contracture syndrome 10	.		9
HP:0000177	HP:0000322	Short philtrum	2	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent
HP:0000177	HP:0000322	Short philtrum	2	NEXMIF CL E G H	340533	29433	OMIM:300912	Mental retardation, X-linked 98			52
HP:0000177	HP:0010804	Tented upper lip vermilion	2	NEXMIF CL E G H	340533	29433	OMIM:300912	Mental retardation, X-linked 98			52
HP:0000177	HP:0000219	Thin upper lip vermilion	2	NEXMIF CL E G H	340533	29433	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040284 - Very rare		52
HP:0000177	HP:0000289	Broad philtrum	2	NEXMIF CL E G H	340533	29433	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040284 - Very rare		52
HP:0000177	HP:0000343	Long philtrum	2	NEXMIF CL E G H	340533	29433	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040284 - Very rare		52
HP:0000177	HP:0000322	Short philtrum	2	NEXMIF CL E G H	340533	29433	ORPHA:85277	X-linked intellectual disability, Cantagrel type	HP:0040281 - Very frequent		52
HP:0000177	HP:0010804	Tented upper lip vermilion	2	NEXMIF CL E G H	340533	29433	ORPHA:85277	X-linked intellectual disability, Cantagrel type	HP:0040281 - Very frequent		52
HP:0000177	HP:0000343	Long philtrum	2	NF1 CL E G H	4763	7765	ORPHA:363700	Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion	HP:0040283 - Occasional		1952
HP:0000177	HP:0000219	Thin upper lip vermilion	2	NFIA CL E G H	4774	7784	OMIM:613735	Brain malformations with or without urinary tract defects	.		12
HP:0000177	HP:0000343	Long philtrum	2	NFIB CL E G H	4781	7785	OMIM:618286	Macrocephaly, acquired, with impaired intellectual development	.		1
HP:0000177	HP:0000322	Short philtrum	2	NFIX CL E G H	4784	7788	ORPHA:447980	19p13.3 microduplication syndrome	HP:0040282 - Frequent		40
HP:0000177	HP:0000322	Short philtrum	2	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome	.		40
HP:0000177	HP:0000343	Long philtrum	2	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent		494
HP:0000177	HP:0000219	Thin upper lip vermilion	2	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1	.		494
HP:0000177	HP:0000343	Long philtrum	2	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1	.		494
HP:0000177	HP:0000322	Short philtrum	2	NKAP CL E G H	79576	29873	OMIM:301039	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE; MRXSHD
HP:0000177	HP:0000343	Long philtrum	2	NLRP1 CL E G H	22861	14374	OMIM:615225	Palmoplantar carcinoma, multiple self-healing	HP:0040283 - Occasional		37
HP:0000177	HP:0000161	Median cleft lip	2	NODAL CL E G H	4838	7865	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		45
HP:0000177	HP:0000161	Median cleft lip	2	NODAL CL E G H	4838	7865	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		45
HP:0000177	HP:0000322	Short philtrum	2	NODAL CL E G H	4838	7865	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent		45
HP:0000177	HP:0010804	Tented upper lip vermilion	2	NODAL CL E G H	4838	7865	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent		45
HP:0000177	HP:0000161	Median cleft lip	2	NODAL CL E G H	4838	7865	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		45
HP:0000177	HP:0000161	Median cleft lip	2	NODAL CL E G H	4838	7865	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		45
HP:0000177	HP:0000215	Thick upper lip vermilion	2	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1	.		22
HP:0000177	HP:0000219	Thin upper lip vermilion	2	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1	.		22
HP:0000177	HP:0000322	Short philtrum	2	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1	.		22
HP:0000177	HP:0000219	Thin upper lip vermilion	2	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome	HP:0040283 - Occasional		10
HP:0000177	HP:0000322	Short philtrum	2	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome	HP:0040283 - Occasional		10
HP:0000177	HP:0000322	Short philtrum	2	NONO CL E G H	4841	7871	OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34			10
HP:0000177	HP:0000343	Long philtrum	2	NOTCH2 CL E G H	4853	7882	OMIM:102500	Hajdu-Cheney syndrome	.		138
HP:0000177	HP:0000343	Long philtrum	2	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome	HP:0040281 - Very frequent		138
HP:0000177	HP:0000319	Smooth philtrum	2	NOTCH3 CL E G H	4854	7883	ORPHA:2789	Lateral meningocele syndrome	HP:0040282 - Frequent		144
HP:0000177	HP:0000319	Smooth philtrum	2	NOTCH3 CL E G H	4854	7883	OMIM:130720	Lateral meningocele syndrome	.		144
HP:0000177	HP:0000343	Long philtrum	2	NOTCH3 CL E G H	4854	7883	OMIM:130720	Lateral meningocele syndrome	.		144
HP:0000177	HP:0002002	Deep philtrum	2	NOVA2 CL E G H	4858	7887	OMIM:618859	Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities
HP:0000177	HP:0000219	Thin upper lip vermilion	2	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome			1
HP:0000177	HP:0000343	Long philtrum	2	NRAS CL E G H	4893	7989	OMIM:137550	Melanocytic nevus syndrome, congenital	.		102
HP:0000177	HP:0002002	Deep philtrum	2	NRAS CL E G H	4893	7989	OMIM:137550	Melanocytic nevus syndrome, congenital	.		102
HP:0000177	HP:0002002	Deep philtrum	2	NRCAM CL E G H	4897	7994	OMIM:619833				2
HP:0000177	HP:0002263	Exaggerated cupid's bow	2	NRCAM CL E G H	4897	7994	OMIM:619833				2
HP:0000177	HP:0010804	Tented upper lip vermilion	2	NRCAM CL E G H	4897	7994	OMIM:619833				2
HP:0000177	HP:0000343	Long philtrum	2	NSD1 CL E G H	64324	14234	ORPHA:3447	Weaver syndrome	HP:0040281 - Very frequent		544
HP:0000177	HP:0002002	Deep philtrum	2	NSD1 CL E G H	64324	14234	ORPHA:3447	Weaver syndrome	HP:0040282 - Frequent		544
HP:0000177	HP:0000322	Short philtrum	2	NSD2 CL E G H	7468	12766	OMIM:619695	RAUCH-STEINDL SYNDROME; RAUST			118
HP:0000177	HP:0000343	Long philtrum	2	NSD2 CL E G H	7468	12766	OMIM:619695	RAUCH-STEINDL SYNDROME; RAUST			118
HP:0000177	HP:0000322	Short philtrum	2	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome			118
HP:0000177	HP:0000322	Short philtrum	2	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent		118
HP:0000177	HP:0000322	Short philtrum	2	NSRP1 CL E G H	84081	25305	OMIM:620001
HP:0000177	HP:0000343	Long philtrum	2	NSRP1 CL E G H	84081	25305	OMIM:620001
HP:0000177	HP:0010804	Tented upper lip vermilion	2	NSRP1 CL E G H	84081	25305	OMIM:620001
HP:0000177	HP:0000215	Thick upper lip vermilion	2	NSUN2 CL E G H	54888	25994	OMIM:611091	Mental retardation, autosomal recessive 5	.		84
HP:0000177	HP:0000319	Smooth philtrum	2	NSUN2 CL E G H	54888	25994	OMIM:611091	Mental retardation, autosomal recessive 5	.		84
HP:0000177	HP:0000322	Short philtrum	2	NSUN2 CL E G H	54888	25994	OMIM:611091	Mental retardation, autosomal recessive 5	.		84
HP:0000177	HP:0000161	Median cleft lip	2	NUAK2 CL E G H	81788	29558	OMIM:619452	ANENCEPHALY 2; ANPH2
HP:0000177	HP:0000319	Smooth philtrum	2	NUP107 CL E G H	57122	29914	OMIM:618348	Galloway-Mowat syndrome 7			5
HP:0000177	HP:0000319	Smooth philtrum	2	NUP107 CL E G H	57122	29914	OMIM:616730	Nephrotic syndrome, type 11	.		5
HP:0000177	HP:0000322	Short philtrum	2	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040283 - Occasional		2
HP:0000177	HP:0000343	Long philtrum	2	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040282 - Frequent		2
HP:0000177	HP:0002263	Exaggerated cupid's bow	2	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040283 - Occasional		2
HP:0000177	HP:0010804	Tented upper lip vermilion	2	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040282 - Frequent		2
HP:0000177	HP:0000343	Long philtrum	2	NXN CL E G H	64359	18008	OMIM:618529	Robinow syndrome, autosomal recessive 2	.		2
HP:0000177	HP:0000343	Long philtrum	2	OBSL1 CL E G H	23363	29092	OMIM:612921	3-M syndrome 2			143
HP:0000177	HP:0000343	Long philtrum	2	OBSL1 CL E G H	23363	29092	ORPHA:2616	3M syndrome	HP:0040282 - Frequent		143
HP:0000177	HP:0000219	Thin upper lip vermilion	2	OCA2 CL E G H	4948	8101	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040283 - Occasional		121
HP:0000177	HP:0000343	Long philtrum	2	OCLN CL E G H	100506658	8104	OMIM:251290	Band-Like calcification with simplified gyration and polymicrogyria	.		23
HP:0000177	HP:0000219	Thin upper lip vermilion	2	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe	HP:0040283 - Occasional		88
HP:0000177	HP:0000343	Long philtrum	2	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe	HP:0040283 - Occasional		88
HP:0000177	HP:0002002	Deep philtrum	2	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe	HP:0040283 - Occasional		88
HP:0000177	HP:0000219	Thin upper lip vermilion	2	ODC1 CL E G H	4953	8109	OMIM:619075	BACHMANN-BUPP SYNDROME; BABS			1
HP:0000177	HP:0002002	Deep philtrum	2	OFD1 CL E G H	8481	2567	OMIM:300804	Joubert syndrome 10			201
HP:0000177	HP:0000161	Median cleft lip	2	OFD1 CL E G H	8481	2567	OMIM:311200	Orofaciodigital syndrome I	.		201
HP:0000177	HP:0000161	Median cleft lip	2	OFD1 CL E G H	8481	2567	ORPHA:2750	Orofaciodigital syndrome type 1	HP:0040281 - Very frequent		201
HP:0000177	HP:0000219	Thin upper lip vermilion	2	OFD1 CL E G H	8481	2567	OMIM:300209	Simpson-golabi-behmel syndrome, type 2			201
HP:0000177	HP:0002002	Deep philtrum	2	OFD1 CL E G H	8481	2567	OMIM:300209	Simpson-golabi-behmel syndrome, type 2	.		201
HP:0000177	HP:0010806	U-Shaped upper lip vermilion	2	OFD1 CL E G H	8481	2567	OMIM:300209	Simpson-golabi-behmel syndrome, type 2	.		201
HP:0000177	HP:0000219	Thin upper lip vermilion	2	OGT CL E G H	8473	8127	OMIM:300997	Mental retardation, X-linked 106			4
HP:0000177	HP:0000219	Thin upper lip vermilion	2	OPHN1 CL E G H	4983	8148	OMIM:300486	Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance			55
HP:0000177	HP:0000322	Short philtrum	2	OPHN1 CL E G H	4983	8148	OMIM:300486	Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance	.		55
HP:0000177	HP:0000319	Smooth philtrum	2	ORC4 CL E G H	5000	8490	OMIM:613800	Meier-Gorlin syndrome 2	.		21
HP:0000177	HP:0000343	Long philtrum	2	OSTM1 CL E G H	28962	21652	OMIM:259720	Osteopetrosis, autosomal recessive 5			73
HP:0000177	HP:0000219	Thin upper lip vermilion	2	OTUD6B CL E G H	51633	24281	ORPHA:505237	Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome	HP:0040282 - Frequent		4
HP:0000177	HP:0000343	Long philtrum	2	OTUD6B CL E G H	51633	24281	ORPHA:505237	Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome	HP:0040282 - Frequent		4
HP:0000177	HP:0000219	Thin upper lip vermilion	2	OTUD6B CL E G H	51633	24281	OMIM:617452	Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies			4
HP:0000177	HP:0000343	Long philtrum	2	OTUD6B CL E G H	51633	24281	OMIM:617452	Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies			4
HP:0000177	HP:0000161	Median cleft lip	2	OTX2 CL E G H	5015	8522	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms			41
HP:0000177	HP:0000219	Thin upper lip vermilion	2	PACS1 CL E G H	55690	30032	ORPHA:329224	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome	HP:0040283 - Occasional		24
HP:0000177	HP:0000319	Smooth philtrum	2	PACS1 CL E G H	55690	30032	ORPHA:329224	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome	HP:0040283 - Occasional		24
HP:0000177	HP:0000219	Thin upper lip vermilion	2	PACS1 CL E G H	55690	30032	OMIM:615009	Schuurs-Hoeijmakers syndrome	.		24
HP:0000177	HP:0000319	Smooth philtrum	2	PACS1 CL E G H	55690	30032	OMIM:615009	Schuurs-Hoeijmakers syndrome			24
HP:0000177	HP:0000219	Thin upper lip vermilion	2	PACS2 CL E G H	23241	23794	OMIM:618067	Epileptic encephalopathy, early infantile, 66	.
HP:0000177	HP:0000343	Long philtrum	2	PAH CL E G H	5053	8582	ORPHA:2209	Maternal phenylketonuria	HP:0040283 - Occasional		641
HP:0000177	HP:0000215	Thick upper lip vermilion	2	PAK3 CL E G H	5063	8592	OMIM:300558	MENTAL RETARDATION, X-LINKED 30; MRX30			27
HP:0000177	HP:0000219	Thin upper lip vermilion	2	PAK3 CL E G H	5063	8592	OMIM:300558	MENTAL RETARDATION, X-LINKED 30; MRX30			27
HP:0000177	HP:0002002	Deep philtrum	2	PAM16 CL E G H	51025	29679	OMIM:613320	Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type	.		1
HP:0000177	HP:0000322	Short philtrum	2	PARS2 CL E G H	25973	30563	OMIM:618437	Epileptic encephalopathy, early infantile, 75			14
HP:0000177	HP:0010804	Tented upper lip vermilion	2	PAX3 CL E G H	5077	8617	ORPHA:894	Waardenburg syndrome type 1	HP:0040282 - Frequent		59
HP:0000177	HP:0010804	Tented upper lip vermilion	2	PAX3 CL E G H	5077	8617	ORPHA:896	Waardenburg syndrome type 3	HP:0040281 - Very frequent		59
HP:0000177	HP:0000319	Smooth philtrum	2	PAX3 CL E G H	5077	8617	OMIM:193500	Waardenburg syndrome, type 1	.		59
HP:0000177	HP:0000219	Thin upper lip vermilion	2	PBX1 CL E G H	5087	8632	OMIM:617641	Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay	.		3
HP:0000177	HP:0002002	Deep philtrum	2	PBX1 CL E G H	5087	8632	OMIM:617641	Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay	.		3
HP:0000177	HP:0000322	Short philtrum	2	PCDHGC4 CL E G H	56098	8717	OMIM:619880
HP:0000177	HP:0000343	Long philtrum	2	PCDHGC4 CL E G H	56098	8717	OMIM:619880
HP:0000177	HP:0000219	Thin upper lip vermilion	2	PCGF2 CL E G H	7703	12929	OMIM:618371	Turnpenny-Fry syndrome	.
HP:0000177	HP:0000343	Long philtrum	2	PCLO CL E G H	27445	13406	OMIM:608027	Pontocerebellar hypoplasia, type 3	.		6
HP:0000177	HP:0005326	Hypoplastic philtrum	2	PDCD6IP CL E G H	10015	8766	OMIM:620047
HP:0000177	HP:0000219	Thin upper lip vermilion	2	PDE4D CL E G H	5144	8783	ORPHA:439822	PDE4D haploinsufficiency syndrome	HP:0040283 - Occasional		113
HP:0000177	HP:0000322	Short philtrum	2	PDE4D CL E G H	5144	8783	ORPHA:439822	PDE4D haploinsufficiency syndrome	HP:0040282 - Frequent		113
HP:0000177	HP:0000343	Long philtrum	2	PDE4D CL E G H	5144	8783	ORPHA:439822	PDE4D haploinsufficiency syndrome	HP:0040283 - Occasional		113
HP:0000177	HP:0000219	Thin upper lip vermilion	2	PDGFRB CL E G H	5159	8804	OMIM:616592	Kosaki overgrowth syndrome	.		28
HP:0000177	HP:0000343	Long philtrum	2	PDHA1 CL E G H	5160	8806	OMIM:312170	Pyruvate dehydrogenase e1-alpha deficiency	.		88
HP:0000177	HP:0000343	Long philtrum	2	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent
HP:0000177	HP:0000343	Long philtrum	2	PEX26 CL E G H	55670	22965	OMIM:614872	Peroxisome biogenesis disorder 7A (zellweger)	.		106
HP:0000177	HP:0010804	Tented upper lip vermilion	2	PGAP2 CL E G H	27315	17893	OMIM:614207	Hyperphosphatasia with mental retardation syndrome 3	.		8
HP:0000177	HP:0000289	Broad philtrum	2	PGAP2 CL E G H	27315	17893	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional		8
HP:0000177	HP:0000322	Short philtrum	2	PGAP2 CL E G H	27315	17893	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional		8
HP:0000177	HP:0010804	Tented upper lip vermilion	2	PGAP2 CL E G H	27315	17893	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040282 - Frequent		8
HP:0000177	HP:0000219	Thin upper lip vermilion	2	PGAP3 CL E G H	93210	23719	OMIM:615716	Hyperphosphatasia with mental retardation syndrome 4	.		20
HP:0000177	HP:0010804	Tented upper lip vermilion	2	PGAP3 CL E G H	93210	23719	OMIM:615716	Hyperphosphatasia with mental retardation syndrome 4	.		20
HP:0000177	HP:0000289	Broad philtrum	2	PGAP3 CL E G H	93210	23719	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional		20
HP:0000177	HP:0000322	Short philtrum	2	PGAP3 CL E G H	93210	23719	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional		20
HP:0000177	HP:0010804	Tented upper lip vermilion	2	PGAP3 CL E G H	93210	23719	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040282 - Frequent		20
HP:0000177	HP:0000219	Thin upper lip vermilion	2	PHC1 CL E G H	1911	3182	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent		16
HP:0000177	HP:0000322	Short philtrum	2	PHF21A CL E G H	51317	24156	ORPHA:52022	Potocki-Shaffer syndrome	HP:0040282 - Frequent		2
HP:0000177	HP:0000322	Short philtrum	2	PHIP CL E G H	55023	15673	OMIM:617991	Developmental delay, intellectual disability, obesity, and dysmorphic features	.		11
HP:0000177	HP:0000343	Long philtrum	2	PHIP CL E G H	55023	15673	OMIM:617991	Developmental delay, intellectual disability, obesity, and dysmorphic features	.		11
HP:0000177	HP:0000343	Long philtrum	2	PHIP CL E G H	55023	15673	ORPHA:589905	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome			11
HP:0000177	HP:0000219	Thin upper lip vermilion	2	PIEZO2 CL E G H	63895	26270	OMIM:617146	Arthrogryposis, distal, with impaired proprioception and touch	.		77
HP:0000177	HP:0000343	Long philtrum	2	PIEZO2 CL E G H	63895	26270	OMIM:248700	Marden-Walker syndrome	.		77
HP:0000177	HP:0000319	Smooth philtrum	2	PIGB CL E G H	9488	8959	OMIM:618580	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80; DEE80
HP:0000177	HP:0000343	Long philtrum	2	PIGB CL E G H	9488	8959	OMIM:618580	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80; DEE80
HP:0000177	HP:0010804	Tented upper lip vermilion	2	PIGB CL E G H	9488	8959	OMIM:618580	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80; DEE80
HP:0000177	HP:0000219	Thin upper lip vermilion	2	PIGG CL E G H	54872	25985	ORPHA:488635	Early-onset epilepsy-intellectual disability-brain anomalies syndrome	HP:0040283 - Occasional		7
HP:0000177	HP:0000322	Short philtrum	2	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent		7
HP:0000177	HP:0000219	Thin upper lip vermilion	2	PIGK CL E G H	10026	8965	OMIM:618879	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CEREBELLAR ATROPHY, WITH OR WITHOUT SEIZURES; NEDHCAS
HP:0000177	HP:0000322	Short philtrum	2	PIGL CL E G H	9487	8966	ORPHA:3474	CHIME syndrome	HP:0040281 - Very frequent		36
HP:0000177	HP:0000289	Broad philtrum	2	PIGL CL E G H	9487	8966	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional		36
HP:0000177	HP:0000322	Short philtrum	2	PIGL CL E G H	9487	8966	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional		36
HP:0000177	HP:0010804	Tented upper lip vermilion	2	PIGL CL E G H	9487	8966	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040282 - Frequent		36
HP:0000177	HP:0000322	Short philtrum	2	PIGL CL E G H	9487	8966	OMIM:280000	Zunich neuroectodermal syndrome	.		36
HP:0000177	HP:0000161	Median cleft lip	2	PIGN CL E G H	23556	8967	ORPHA:2059	Fryns syndrome	HP:0040282 - Frequent		37
HP:0000177	HP:0000343	Long philtrum	2	PIGN CL E G H	23556	8967	ORPHA:2059	Fryns syndrome	HP:0040281 - Very frequent		37
HP:0000177	HP:0100335	Non-midline cleft lip	2	PIGN CL E G H	23556	8967	ORPHA:2059	Fryns syndrome	HP:0040282 - Frequent		37
HP:0000177	HP:0010804	Tented upper lip vermilion	2	PIGN CL E G H	23556	8967	ORPHA:2059	Fryns syndrome	HP:0040281 - Very frequent		37
HP:0000177	HP:0000219	Thin upper lip vermilion	2	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome	HP:0040283 - Occasional		37
HP:0000177	HP:0000319	Smooth philtrum	2	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome	HP:0040283 - Occasional		37
HP:0000177	HP:0010804	Tented upper lip vermilion	2	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome	HP:0040283 - Occasional		37
HP:0000177	HP:0000343	Long philtrum	2	PIGN CL E G H	23556	8967	OMIM:614080	Multiple congenital anomalies-hypotonia-seizures syndrome 1	.		37
HP:0000177	HP:0010804	Tented upper lip vermilion	2	PIGO CL E G H	84720	23215	OMIM:614749	Hyperphosphatasia with mental retardation syndrome 2			84
HP:0000177	HP:0000289	Broad philtrum	2	PIGO CL E G H	84720	23215	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional		84
HP:0000177	HP:0000322	Short philtrum	2	PIGO CL E G H	84720	23215	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional		84
HP:0000177	HP:0010804	Tented upper lip vermilion	2	PIGO CL E G H	84720	23215	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040282 - Frequent		84
HP:0000177	HP:0000219	Thin upper lip vermilion	2	PIGQ CL E G H	9091	14135	OMIM:618548	MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4; MCAHS4			3
HP:0000177	HP:0000319	Smooth philtrum	2	PIGQ CL E G H	9091	14135	OMIM:618548	MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4; MCAHS4			3
HP:0000177	HP:0000343	Long philtrum	2	PIGQ CL E G H	9091	14135	OMIM:618548	MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4; MCAHS4			3
HP:0000177	HP:0002002	Deep philtrum	2	PIGS CL E G H	94005	14937	OMIM:618143	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0000177	HP:0000343	Long philtrum	2	PIGT CL E G H	51604	14938	ORPHA:369837	Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome	HP:0040281 - Very frequent		12
HP:0000177	HP:0002263	Exaggerated cupid's bow	2	PIGT CL E G H	51604	14938	ORPHA:369837	Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome	HP:0040283 - Occasional		12
HP:0000177	HP:0010804	Tented upper lip vermilion	2	PIGT CL E G H	51604	14938	ORPHA:369837	Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome	HP:0040283 - Occasional		12
HP:0000177	HP:0000343	Long philtrum	2	PIGT CL E G H	51604	14938	OMIM:615398	Multiple congenital anomalies-hypotonia-seizures syndrome 3	.		12
HP:0000177	HP:0002002	Deep philtrum	2	PIGT CL E G H	51604	14938	OMIM:615398	Multiple congenital anomalies-hypotonia-seizures syndrome 3	.		12
HP:0000177	HP:0000219	Thin upper lip vermilion	2	PIGU CL E G H	128869	15791	OMIM:618590	NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS; NEDBSS
HP:0000177	HP:0000319	Smooth philtrum	2	PIGU CL E G H	128869	15791	OMIM:618590	NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS; NEDBSS
HP:0000177	HP:0000219	Thin upper lip vermilion	2	PIGV CL E G H	55650	26031	OMIM:239300	Hyperphosphatasia with mental retardation			57
HP:0000177	HP:0000322	Short philtrum	2	PIGV CL E G H	55650	26031	OMIM:239300	Hyperphosphatasia with mental retardation	.		57
HP:0000177	HP:0010804	Tented upper lip vermilion	2	PIGV CL E G H	55650	26031	OMIM:239300	Hyperphosphatasia with mental retardation	.		57
HP:0000177	HP:0000289	Broad philtrum	2	PIGV CL E G H	55650	26031	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional		57
HP:0000177	HP:0000322	Short philtrum	2	PIGV CL E G H	55650	26031	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional		57
HP:0000177	HP:0010804	Tented upper lip vermilion	2	PIGV CL E G H	55650	26031	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040282 - Frequent		57
HP:0000177	HP:0010804	Tented upper lip vermilion	2	PIGW CL E G H	284098	23213	OMIM:616025	Glycosylphosphatidylinositol biosynthesis defect 11	.		6
HP:0000177	HP:0000289	Broad philtrum	2	PIGW CL E G H	284098	23213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional		6
HP:0000177	HP:0000322	Short philtrum	2	PIGW CL E G H	284098	23213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional		6
HP:0000177	HP:0010804	Tented upper lip vermilion	2	PIGW CL E G H	284098	23213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040282 - Frequent		6
HP:0000177	HP:0000289	Broad philtrum	2	PIGY CL E G H	84992	28213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional		2
HP:0000177	HP:0000322	Short philtrum	2	PIGY CL E G H	84992	28213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional		2
HP:0000177	HP:0010804	Tented upper lip vermilion	2	PIGY CL E G H	84992	28213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040282 - Frequent		2
HP:0000177	HP:0000319	Smooth philtrum	2	PIK3CA CL E G H	5290	8975	OMIM:602501	Megalencephaly-Capillary malformation-polymicrogyria syndrome	.		162
HP:0000177	HP:0000219	Thin upper lip vermilion	2	PITX2 CL E G H	5308	9005	OMIM:180500	Axenfeld-rieger syndrome, type 1			51
HP:0000177	HP:0000322	Short philtrum	2	PITX2 CL E G H	5308	9005	OMIM:180500	Axenfeld-rieger syndrome, type 1	.		51
HP:0000177	HP:0000319	Smooth philtrum	2	PKDCC CL E G H	91461	25123	OMIM:618821	RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES; RLSDF
HP:0000177	HP:0000343	Long philtrum	2	PKDCC CL E G H	91461	25123	OMIM:618821	RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES; RLSDF
HP:0000177	HP:0000319	Smooth philtrum	2	PLAA CL E G H	9373	9043	OMIM:617527	Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies	.		3
HP:0000177	HP:0000343	Long philtrum	2	PLAA CL E G H	9373	9043	OMIM:617527	Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies	.		3
HP:0000177	HP:0010804	Tented upper lip vermilion	2	PLAA CL E G H	9373	9043	OMIM:617527	Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies	.		3
HP:0000177	HP:0000319	Smooth philtrum	2	PLAA CL E G H	9373	9043	ORPHA:521426	PLAA-associated neurodevelopmental disorder	HP:0040282 - Frequent		3
HP:0000177	HP:0000343	Long philtrum	2	PLAA CL E G H	9373	9043	ORPHA:521426	PLAA-associated neurodevelopmental disorder	HP:0040282 - Frequent		3
HP:0000177	HP:0010804	Tented upper lip vermilion	2	PLAA CL E G H	9373	9043	ORPHA:521426	PLAA-associated neurodevelopmental disorder	HP:0040282 - Frequent		3
HP:0000177	HP:0000161	Median cleft lip	2	PLCH1 CL E G H	23007	29185	OMIM:619895
HP:0000177	HP:0000161	Median cleft lip	2	PLCH1 CL E G H	23007	29185	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent
HP:0000177	HP:0000219	Thin upper lip vermilion	2	PLPBP CL E G H	11212	9457	OMIM:617290	Epilepsy, early-onset, vitamin b6-dependent			6
HP:0000177	HP:0000343	Long philtrum	2	PLPBP CL E G H	11212	9457	OMIM:617290	Epilepsy, early-onset, vitamin b6-dependent			6
HP:0000177	HP:0000219	Thin upper lip vermilion	2	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia			150
HP:0000177	HP:0000219	Thin upper lip vermilion	2	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG	HP:0040282 - Frequent		150
HP:0000177	HP:0000343	Long philtrum	2	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG	HP:0040282 - Frequent		150
HP:0000177	HP:0000343	Long philtrum	2	POC1A CL E G H	25886	24488	OMIM:614813	Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis			10
HP:0000177	HP:0000219	Thin upper lip vermilion	2	POGZ CL E G H	23126	18801	ORPHA:468678	White-Sutton syndrome	HP:0040283 - Occasional		35
HP:0000177	HP:0000322	Short philtrum	2	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome	.		35
HP:0000177	HP:0000322	Short philtrum	2	POGZ CL E G H	23126	18801	ORPHA:468678	White-Sutton syndrome	HP:0040284 - Very rare		35
HP:0000177	HP:0000219	Thin upper lip vermilion	2	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040281 - Very frequent		138
HP:0000177	HP:0000319	Smooth philtrum	2	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome			138
HP:0000177	HP:0000322	Short philtrum	2	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040281 - Very frequent		138
HP:0000177	HP:0000343	Long philtrum	2	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome			138
HP:0000177	HP:0000319	Smooth philtrum	2	POLR3GL CL E G H	84265	28466	OMIM:619234	SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM
HP:0000177	HP:0000343	Long philtrum	2	POR CL E G H	5447	9208	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis	.		76
HP:0000177	HP:0000161	Median cleft lip	2	POU1F1 CL E G H	5449	9210	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms			36
HP:0000177	HP:0000343	Long philtrum	2	POU4F1 CL E G H	5457	9218	ORPHA:314647	Non-progressive cerebellar ataxia with intellectual disability	HP:0040282 - Frequent
HP:0000177	HP:0000219	Thin upper lip vermilion	2	PPM1D CL E G H	8493	9277	OMIM:617450	Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold	.		22
HP:0000177	HP:0002002	Deep philtrum	2	PPP1CB CL E G H	5500	9282	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair	HP:0040282 - Frequent		9
HP:0000177	HP:0000219	Thin upper lip vermilion	2	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2			9
HP:0000177	HP:0000319	Smooth philtrum	2	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2			9
HP:0000177	HP:0000343	Long philtrum	2	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2			9
HP:0000177	HP:0002002	Deep philtrum	2	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2			9
HP:0000177	HP:0000343	Long philtrum	2	PPP1R12A CL E G H	4659	7618	OMIM:618820	GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS
HP:0000177	HP:0000219	Thin upper lip vermilion	2	PPP1R15B CL E G H	84919	14951	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome	HP:0040283 - Occasional		2
HP:0000177	HP:0000322	Short philtrum	2	PPP1R15B CL E G H	84919	14951	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome	HP:0040283 - Occasional		2
HP:0000177	HP:0000343	Long philtrum	2	PPP1R15B CL E G H	84919	14951	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome	HP:0040283 - Occasional		2
HP:0000177	HP:0000343	Long philtrum	2	PPP1R21 CL E G H	129285	30595	OMIM:619383	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0000177	HP:0010804	Tented upper lip vermilion	2	PPP1R21 CL E G H	129285	30595	OMIM:619383	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0000177	HP:0000322	Short philtrum	2	PPP2CA CL E G H	5515	9299	OMIM:618354	Neurodevelopmental disorder and language delay with or without structural brain abnormalities	.		2
HP:0000177	HP:0010804	Tented upper lip vermilion	2	PPP2R1A CL E G H	5518	9302	OMIM:616362	Mental retardation, autosomal dominant 36	.		13
HP:0000177	HP:0000319	Smooth philtrum	2	PPP2R3C CL E G H	55012	17485	OMIM:618419	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy	.
HP:0000177	HP:0000343	Long philtrum	2	PPP2R3C CL E G H	55012	17485	OMIM:618419	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy	.
HP:0000177	HP:0000219	Thin upper lip vermilion	2	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome	HP:0040284 - Very rare		10
HP:0000177	HP:0000343	Long philtrum	2	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome	HP:0040284 - Very rare		10
HP:0000177	HP:0000322	Short philtrum	2	PPP3CA CL E G H	5530	9314	OMIM:617711	Epileptic encephalopathy, infantile or early childhood, 1			2
HP:0000177	HP:0000219	Thin upper lip vermilion	2	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome	.		28
HP:0000177	HP:0000322	Short philtrum	2	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome			28
HP:0000177	HP:0000322	Short philtrum	2	PQBP1 CL E G H	10084	9330	ORPHA:93945	X-linked intellectual disability, Porteous type	HP:0040282 - Frequent		28
HP:0000177	HP:0000343	Long philtrum	2	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent		148
HP:0000177	HP:0000319	Smooth philtrum	2	PRDX1 CL E G H	5052	9352	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type	.
HP:0000177	HP:0010804	Tented upper lip vermilion	2	PREPL CL E G H	9581	30228	OMIM:616224	Myasthenic syndrome, congenital, 22	.		7
HP:0000177	HP:0000319	Smooth philtrum	2	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0000177	HP:0000322	Short philtrum	2	PRKACA CL E G H	5566	9380	OMIM:619142	CARDIOACROFACIAL DYSPLASIA 1; CAFD1			2
HP:0000177	HP:0000322	Short philtrum	2	PRKACB CL E G H	5567	9381	OMIM:619143	CARDIOACROFACIAL DYSPLASIA 2; CAFD2			2
HP:0000177	HP:0002002	Deep philtrum	2	PRKACB CL E G H	5567	9381	OMIM:619143	CARDIOACROFACIAL DYSPLASIA 2; CAFD2			2
HP:0000177	HP:0010804	Tented upper lip vermilion	2	PRKACB CL E G H	5567	9381	OMIM:619143	CARDIOACROFACIAL DYSPLASIA 2; CAFD2			2
HP:0000177	HP:0000219	Thin upper lip vermilion	2	PRKAR1B CL E G H	5575	9390	OMIM:619680	MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME; MASNS			2
HP:0000177	HP:0000343	Long philtrum	2	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent
HP:0000177	HP:0000219	Thin upper lip vermilion	2	PRKDC CL E G H	5591	9413	OMIM:615966	Immunodeficiency 26 with or without neurologic abnormalities	HP:0040283 - Occasional		42
HP:0000177	HP:0000343	Long philtrum	2	PRKDC CL E G H	5591	9413	OMIM:615966	Immunodeficiency 26 with or without neurologic abnormalities	HP:0040283 - Occasional		42
HP:0000177	HP:0000343	Long philtrum	2	PRMT7 CL E G H	54496	25557	OMIM:617157	Short stature, brachydactyly, intellectual developmental disability, and seizures	.		6
HP:0000177	HP:0000343	Long philtrum	2	PRMT7 CL E G H	54496	25557	ORPHA:464288	Short stature-brachydactyly-obesity-global developmental delay syndrome	HP:0040281 - Very frequent		6
HP:0000177	HP:0000161	Median cleft lip	2	PROP1 CL E G H	5626	9455	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms			54
HP:0000177	HP:0000322	Short philtrum	2	PSMC3 CL E G H	5702	9549	OMIM:619354	DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY; DCIDP
HP:0000177	HP:0000219	Thin upper lip vermilion	2	PSMD12 CL E G H	5718	9557	ORPHA:529962	17q24.2 microdeletion syndrome	HP:0040282 - Frequent		4
HP:0000177	HP:0000322	Short philtrum	2	PSMD12 CL E G H	5718	9557	ORPHA:529962	17q24.2 microdeletion syndrome	HP:0040282 - Frequent		4
HP:0000177	HP:0000161	Median cleft lip	2	PTCH1 CL E G H	5727	9585	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		665
HP:0000177	HP:0000161	Median cleft lip	2	PTCH1 CL E G H	5727	9585	OMIM:610828	Holoprosencephaly 7			665
HP:0000177	HP:0100335	Non-midline cleft lip	2	PTCH1 CL E G H	5727	9585	OMIM:610828	Holoprosencephaly 7			665
HP:0000177	HP:0000161	Median cleft lip	2	PTCH1 CL E G H	5727	9585	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		665
HP:0000177	HP:0000322	Short philtrum	2	PTCH1 CL E G H	5727	9585	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent		665
HP:0000177	HP:0010804	Tented upper lip vermilion	2	PTCH1 CL E G H	5727	9585	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent		665
HP:0000177	HP:0000161	Median cleft lip	2	PTCH1 CL E G H	5727	9585	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		665
HP:0000177	HP:0000343	Long philtrum	2	PTCH1 CL E G H	5727	9585	ORPHA:77301	Monosomy 9q22.3	HP:0040282 - Frequent		665
HP:0000177	HP:0000161	Median cleft lip	2	PTCH1 CL E G H	5727	9585	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		665
HP:0000177	HP:0000343	Long philtrum	2	PTEN CL E G H	5728	9588	ORPHA:109	Bannayan-Riley-Ruvalcaba syndrome	HP:0040283 - Occasional		948
HP:0000177	HP:0000343	Long philtrum	2	PTEN CL E G H	5728	9588	OMIM:605309	Macrocephaly/autism syndrome	.		948
HP:0000177	HP:0000343	Long philtrum	2	PTH1R CL E G H	5745	9608	ORPHA:50945	Blomstrand lethal chondrodysplasia	HP:0040282 - Frequent		58
HP:0000177	HP:0000322	Short philtrum	2	PTH1R CL E G H	5745	9608	OMIM:600002	Eiken syndrome			58
HP:0000177	HP:0000319	Smooth philtrum	2	PTPRF CL E G H	5792	9670	OMIM:616001	Breasts and/or nipples, aplasia or hypoplasia of, 2	.		1
HP:0000177	HP:0000219	Thin upper lip vermilion	2	PTRH2 CL E G H	51651	24265	ORPHA:456312	Infantile multisystem neurologic-endocrine-pancreatic disease	HP:0040282 - Frequent		6
HP:0000177	HP:0000219	Thin upper lip vermilion	2	PTRH2 CL E G H	51651	24265	OMIM:616263	Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset	.		6
HP:0000177	HP:0000219	Thin upper lip vermilion	2	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome	HP:0040282 - Frequent		19
HP:0000177	HP:0000319	Smooth philtrum	2	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome	HP:0040282 - Frequent		19
HP:0000177	HP:0000343	Long philtrum	2	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome	HP:0040282 - Frequent		19
HP:0000177	HP:0000219	Thin upper lip vermilion	2	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome	HP:0040282 - Frequent		19
HP:0000177	HP:0000343	Long philtrum	2	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome	HP:0040282 - Frequent		19
HP:0000177	HP:0000219	Thin upper lip vermilion	2	PUF60 CL E G H	22827	17042	OMIM:615583	Verheij syndrome	.		19
HP:0000177	HP:0000343	Long philtrum	2	PUF60 CL E G H	22827	17042	OMIM:615583	Verheij syndrome	.		19
HP:0000177	HP:0010804	Tented upper lip vermilion	2	PURA CL E G H	5813	9701	OMIM:616158	Mental retardation, autosomal dominant 31			53
HP:0000177	HP:0000219	Thin upper lip vermilion	2	PURA CL E G H	5813	9701	ORPHA:438216	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation	HP:0040283 - Occasional		53
HP:0000177	HP:0010804	Tented upper lip vermilion	2	PURA CL E G H	5813	9701	ORPHA:438216	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation	HP:0040283 - Occasional		53
HP:0000177	HP:0002002	Deep philtrum	2	PURA CL E G H	5813	9701	ORPHA:314655	Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion	HP:0040282 - Frequent		53
HP:0000177	HP:0010804	Tented upper lip vermilion	2	PURA CL E G H	5813	9701	ORPHA:314655	Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion	HP:0040282 - Frequent		53
HP:0000177	HP:0000343	Long philtrum	2	PUS1 CL E G H	80324	15508	ORPHA:2598	Mitochondrial myopathy and sideroblastic anemia	HP:0040281 - Very frequent		57
HP:0000177	HP:0000319	Smooth philtrum	2	PUS7 CL E G H	54517	26033	OMIM:618342	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature	.
HP:0000177	HP:0000322	Short philtrum	2	PUS7 CL E G H	54517	26033	OMIM:618342	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature	.
HP:0000177	HP:0000219	Thin upper lip vermilion	2	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0000177	HP:0000219	Thin upper lip vermilion	2	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0000177	HP:0000343	Long philtrum	2	PYCR1 CL E G H	5831	9721	OMIM:612940	Cutis laxa, autosomal recessive, type IIB			53
HP:0000177	HP:0000219	Thin upper lip vermilion	2	PYCR2 CL E G H	29920	30262	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent		11
HP:0000177	HP:0000319	Smooth philtrum	2	PYCR2 CL E G H	29920	30262	OMIM:616420	Leukodystrophy, hypomyelinating, 10	.		11
HP:0000177	HP:0000343	Long philtrum	2	PYCR2 CL E G H	29920	30262	OMIM:616420	Leukodystrophy, hypomyelinating, 10	.		11
HP:0000177	HP:0000319	Smooth philtrum	2	PYCR2 CL E G H	29920	30262	ORPHA:481152	PYCR2-related microcephaly-progressive leukoencephalopathy	HP:0040283 - Occasional		11
HP:0000177	HP:0000343	Long philtrum	2	PYCR2 CL E G H	29920	30262	ORPHA:481152	PYCR2-related microcephaly-progressive leukoencephalopathy	HP:0040283 - Occasional		11
HP:0000177	HP:0000219	Thin upper lip vermilion	2	QRICH1 CL E G H	54870	24713	OMIM:617982	VERVERI-BRADY SYNDROME; VERBRAS
HP:0000177	HP:0000319	Smooth philtrum	2	QRICH1 CL E G H	54870	24713	OMIM:617982	VERVERI-BRADY SYNDROME; VERBRAS
HP:0000177	HP:0010804	Tented upper lip vermilion	2	RAB11B CL E G H	9230	9761	OMIM:617807	Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter	.
HP:0000177	HP:0000322	Short philtrum	2	RAB18 CL E G H	22931	14244	ORPHA:2510	Micro syndrome	HP:0040281 - Very frequent		85
HP:0000177	HP:0000322	Short philtrum	2	RAB3GAP1 CL E G H	22930	17063	ORPHA:1387	Cataract-intellectual disability-hypogonadism syndrome	HP:0040281 - Very frequent		90
HP:0000177	HP:0000322	Short philtrum	2	RAB3GAP1 CL E G H	22930	17063	ORPHA:2510	Micro syndrome	HP:0040281 - Very frequent		90
HP:0000177	HP:0000322	Short philtrum	2	RAB3GAP2 CL E G H	25782	17168	ORPHA:1387	Cataract-intellectual disability-hypogonadism syndrome	HP:0040281 - Very frequent		135
HP:0000177	HP:0000322	Short philtrum	2	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1	.		135
HP:0000177	HP:0000343	Long philtrum	2	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1			135
HP:0000177	HP:0000322	Short philtrum	2	RAB3GAP2 CL E G H	25782	17168	ORPHA:2510	Micro syndrome	HP:0040281 - Very frequent		135
HP:0000177	HP:0100335	Non-midline cleft lip	2	RAB5IF CL E G H	55969	15870	OMIM:616994
HP:0000177	HP:0000289	Broad philtrum	2	RAC3 CL E G H	5881	9803	OMIM:618577	NEURODEVELOPMENTAL DISORDER WITH STRUCTURAL BRAIN ANOMALIES AND DYSMORPHIC FACIES; NEDBAF			1
HP:0000177	HP:0000343	Long philtrum	2	RAC3 CL E G H	5881	9803	OMIM:618577	NEURODEVELOPMENTAL DISORDER WITH STRUCTURAL BRAIN ANOMALIES AND DYSMORPHIC FACIES; NEDBAF			1
HP:0000177	HP:0000343	Long philtrum	2	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent		25
HP:0000177	HP:0000219	Thin upper lip vermilion	2	RAD21 CL E G H	5885	9811	OMIM:614701	Cornelia de Lange syndrome 4	.		25
HP:0000177	HP:0000319	Smooth philtrum	2	RAD21 CL E G H	5885	9811	OMIM:614701	Cornelia de Lange syndrome 4	.		25
HP:0000177	HP:0000343	Long philtrum	2	RAD21 CL E G H	5885	9811	OMIM:614701	Cornelia de Lange syndrome 4	.		25
HP:0000177	HP:0000219	Thin upper lip vermilion	2	RAI1 CL E G H	10743	9834	ORPHA:477817	PMP22-RAI1 contiguous gene duplication syndrome	HP:0040283 - Occasional		150
HP:0000177	HP:0000319	Smooth philtrum	2	RAI1 CL E G H	10743	9834	ORPHA:477817	PMP22-RAI1 contiguous gene duplication syndrome	HP:0040283 - Occasional		150
HP:0000177	HP:0000343	Long philtrum	2	RAI1 CL E G H	10743	9834	ORPHA:477817	PMP22-RAI1 contiguous gene duplication syndrome	HP:0040283 - Occasional		150
HP:0000177	HP:0000322	Short philtrum	2	RAI1 CL E G H	10743	9834	ORPHA:819	Smith-Magenis syndrome	HP:0040282 - Frequent		150
HP:0000177	HP:0010803	Everted upper lip vermilion	2	RAI1 CL E G H	10743	9834	OMIM:182290	Smith-Magenis syndrome			150
HP:0000177	HP:0010804	Tented upper lip vermilion	2	RAI1 CL E G H	10743	9834	ORPHA:819	Smith-Magenis syndrome	HP:0040281 - Very frequent		150
HP:0000177	HP:0000219	Thin upper lip vermilion	2	RALA CL E G H	5898	9839	OMIM:619311	HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME; HINCONS
HP:0000177	HP:0000322	Short philtrum	2	RALA CL E G H	5898	9839	OMIM:619311	HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME; HINCONS
HP:0000177	HP:0002263	Exaggerated cupid's bow	2	RALA CL E G H	5898	9839	OMIM:619311	HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME; HINCONS
HP:0000177	HP:0010804	Tented upper lip vermilion	2	RAPSN CL E G H	5913	9863	OMIM:618388	FETAL AKINESIA DEFORMATION SEQUENCE 2; FADS2			73
HP:0000177	HP:0000343	Long philtrum	2	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent		16
HP:0000177	HP:0000319	Smooth philtrum	2	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart			16
HP:0000177	HP:0100335	Non-midline cleft lip	2	RET CL E G H	5979	9967	ORPHA:1848	Renal agenesis, bilateral	HP:0040283 - Occasional		572
HP:0000177	HP:0000343	Long philtrum	2	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000177	HP:0000219	Thin upper lip vermilion	2	RHOBTB2 CL E G H	23221	18756	OMIM:618004	Epileptic encephalopathy, early infantile, 64	.		1
HP:0000177	HP:0000319	Smooth philtrum	2	RHOBTB2 CL E G H	23221	18756	OMIM:618004	Epileptic encephalopathy, early infantile, 64	.		1
HP:0000177	HP:0000343	Long philtrum	2	RIC1 CL E G H	57589	17686	OMIM:618761	CATIFA SYNDROME; CATIFA
HP:0000177	HP:0000343	Long philtrum	2	RIN2 CL E G H	54453	18750	OMIM:613075	Macs syndrome			43
HP:0000177	HP:0000343	Long philtrum	2	RIN2 CL E G H	54453	18750	ORPHA:217335	RIN2 syndrome	HP:0040281 - Very frequent		43
HP:0000177	HP:0000161	Median cleft lip	2	RIPK4 CL E G H	54101	496	ORPHA:1234	Bartsocas-Papas syndrome	HP:0040281 - Very frequent		69
HP:0000177	HP:0000343	Long philtrum	2	RIPPLY2 CL E G H	134701	21390	ORPHA:2311	Autosomal recessive spondylocostal dysostosis	HP:0040283 - Occasional		3
HP:0000177	HP:0000219	Thin upper lip vermilion	2	RNF135 CL E G H	84282	21158	ORPHA:137634	Overgrowth-macrocephaly-facial dysmorphism syndrome	HP:0040281 - Very frequent		11
HP:0000177	HP:0000343	Long philtrum	2	RNF135 CL E G H	84282	21158	ORPHA:137634	Overgrowth-macrocephaly-facial dysmorphism syndrome	HP:0040281 - Very frequent		11
HP:0000177	HP:0000322	Short philtrum	2	RNF2 CL E G H	6045	10061	OMIM:619460	LUO-SCHOCH-YAMAMOTO SYNDROME; LUSYAM
HP:0000177	HP:0000322	Short philtrum	2	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I			15
HP:0000177	HP:0000219	Thin upper lip vermilion	2	RNU4ATAC CL E G H	100151683	34016	OMIM:616651	Roifman syndrome			15
HP:0000177	HP:0000219	Thin upper lip vermilion	2	RNU4ATAC CL E G H	100151683	34016	ORPHA:353298	Roifman syndrome	HP:0040282 - Frequent		15
HP:0000177	HP:0000343	Long philtrum	2	RNU4ATAC CL E G H	100151683	34016	OMIM:616651	Roifman syndrome			15
HP:0000177	HP:0000343	Long philtrum	2	RNU4ATAC CL E G H	100151683	34016	ORPHA:353298	Roifman syndrome	HP:0040282 - Frequent		15
HP:0000177	HP:0000322	Short philtrum	2	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040283 - Occasional		120
HP:0000177	HP:0000343	Long philtrum	2	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040282 - Frequent		120
HP:0000177	HP:0002263	Exaggerated cupid's bow	2	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040283 - Occasional		120
HP:0000177	HP:0010804	Tented upper lip vermilion	2	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040282 - Frequent		120
HP:0000177	HP:0000219	Thin upper lip vermilion	2	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive			120
HP:0000177	HP:0000343	Long philtrum	2	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive	.		120
HP:0000177	HP:0010804	Tented upper lip vermilion	2	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive			120
HP:0000177	HP:0000219	Thin upper lip vermilion	2	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35			10
HP:0000177	HP:0000319	Smooth philtrum	2	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35			10
HP:0000177	HP:0000343	Long philtrum	2	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35			10
HP:0000177	HP:0000219	Thin upper lip vermilion	2	RPL10 CL E G H	6134	10298	ORPHA:459070	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome	HP:0040283 - Occasional		10
HP:0000177	HP:0000319	Smooth philtrum	2	RPL10 CL E G H	6134	10298	ORPHA:459070	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome	HP:0040283 - Occasional		10
HP:0000177	HP:0000343	Long philtrum	2	RPL10 CL E G H	6134	10298	ORPHA:459070	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome	HP:0040283 - Occasional		10
HP:0000177	HP:0000219	Thin upper lip vermilion	2	RPL10 CL E G H	6134	10298	ORPHA:435938	X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome	HP:0040282 - Frequent		10
HP:0000177	HP:0000215	Thick upper lip vermilion	2	RPS7 CL E G H	6201	10440	OMIM:612563	Diamond-Blackfan anemia 8	.		20
HP:0000177	HP:0000322	Short philtrum	2	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0000177	HP:0000343	Long philtrum	2	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent
HP:0000177	HP:0100335	Non-midline cleft lip	2	RSPO2 CL E G H	340419	28583	OMIM:618021	Tetraamelia syndrome 2
HP:0000177	HP:0010804	Tented upper lip vermilion	2	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:0000177	HP:0010804	Tented upper lip vermilion	2	RSPRY1 CL E G H	89970	29420	OMIM:616723	Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type	.		2
HP:0000177	HP:0002263	Exaggerated cupid's bow	2	RTL1 CL E G H	388015	14665	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion	HP:0040283 - Occasional
HP:0000177	HP:0000322	Short philtrum	2	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional
HP:0000177	HP:0000343	Long philtrum	2	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional
HP:0000177	HP:0002002	Deep philtrum	2	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040282 - Frequent
HP:0000177	HP:0010804	Tented upper lip vermilion	2	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional
HP:0000177	HP:0000322	Short philtrum	2	RTL1 CL E G H	388015	14665	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14	HP:0040283 - Occasional
HP:0000177	HP:0000322	Short philtrum	2	RTL1 CL E G H	388015	14665	ORPHA:254531	Temple syndrome due to paternal 14q32.2 hypomethylation	HP:0040283 - Occasional
HP:0000177	HP:0000319	Smooth philtrum	2	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency	HP:0040283 - Occasional		113
HP:0000177	HP:0000322	Short philtrum	2	RUNX2 CL E G H	860	10472	OMIM:156510	Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly	.		90
HP:0000177	HP:0010804	Tented upper lip vermilion	2	RYR1 CL E G H	6261	10483	ORPHA:98905	Congenital multicore myopathy with external ophthalmoplegia	HP:0040283 - Occasional		1200
HP:0000177	HP:0002002	Deep philtrum	2	RYR1 CL E G H	6261	10483	OMIM:619542	KING-DENBOROUGH SYNDROME; KDS			1200
HP:0000177	HP:0000219	Thin upper lip vermilion	2	SASS6 CL E G H	163786	25403	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent		4
HP:0000177	HP:0000319	Smooth philtrum	2	SATB1 CL E G H	6304	10541	OMIM:619229	KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0000177	HP:0000343	Long philtrum	2	SATB2 CL E G H	23314	21637	ORPHA:251019	2q32q33 microdeletion syndrome	HP:0040283 - Occasional		34
HP:0000177	HP:0000319	Smooth philtrum	2	SATB2 CL E G H	23314	21637	OMIM:612313	Glass syndrome	.		34
HP:0000177	HP:0000343	Long philtrum	2	SATB2 CL E G H	23314	21637	OMIM:612313	Glass syndrome			34
HP:0000177	HP:0000322	Short philtrum	2	SATB2 CL E G H	23314	21637	ORPHA:251028	SATB2-associated syndrome due to a chromosomal rearrangement	HP:0040283 - Occasional		34
HP:0000177	HP:0000343	Long philtrum	2	SATB2 CL E G H	23314	21637	ORPHA:251028	SATB2-associated syndrome due to a chromosomal rearrangement	HP:0040283 - Occasional		34
HP:0000177	HP:0000219	Thin upper lip vermilion	2	SATB2 CL E G H	23314	21637	ORPHA:576283	SATB2-associated syndrome due to a pathogenic variant	HP:0040282 - Frequent		34
HP:0000177	HP:0000319	Smooth philtrum	2	SATB2 CL E G H	23314	21637	ORPHA:576283	SATB2-associated syndrome due to a pathogenic variant	HP:0040282 - Frequent		34
HP:0000177	HP:0000343	Long philtrum	2	SATB2 CL E G H	23314	21637	ORPHA:576283	SATB2-associated syndrome due to a pathogenic variant	HP:0040282 - Frequent		34
HP:0000177	HP:0000215	Thick upper lip vermilion	2	SC5D CL E G H	6309	10547	OMIM:607330	LATHOSTEROLOSIS			80
HP:0000177	HP:0000343	Long philtrum	2	SC5D CL E G H	6309	10547	ORPHA:46059	Lathosterolosis	HP:0040282 - Frequent		80
HP:0000177	HP:0000343	Long philtrum	2	SC5D CL E G H	6309	10547	OMIM:607330	LATHOSTEROLOSIS			80
HP:0000177	HP:0000219	Thin upper lip vermilion	2	SCN1A CL E G H	6323	10585	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040284 - Very rare		1053
HP:0000177	HP:0000289	Broad philtrum	2	SCN1A CL E G H	6323	10585	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040284 - Very rare		1053
HP:0000177	HP:0000343	Long philtrum	2	SCN1A CL E G H	6323	10585	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040284 - Very rare		1053
HP:0000177	HP:0000219	Thin upper lip vermilion	2	SEC23A CL E G H	10484	10701	OMIM:607812	Craniolenticulosutural dysplasia			2
HP:0000177	HP:0000319	Smooth philtrum	2	SEC23A CL E G H	10484	10701	OMIM:607812	Craniolenticulosutural dysplasia	.		2
HP:0000177	HP:0000319	Smooth philtrum	2	SEC23A CL E G H	10484	10701	ORPHA:50814	Craniolenticulosutural dysplasia	HP:0040281 - Very frequent		2
HP:0000177	HP:0000343	Long philtrum	2	SEC23A CL E G H	10484	10701	ORPHA:50814	Craniolenticulosutural dysplasia	HP:0040281 - Very frequent		2
HP:0000177	HP:0000343	Long philtrum	2	SEC23A CL E G H	10484	10701	OMIM:607812	Craniolenticulosutural dysplasia	.		2
HP:0000177	HP:0000322	Short philtrum	2	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0000177	HP:0000343	Long philtrum	2	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent
HP:0000177	HP:0000219	Thin upper lip vermilion	2	SETBP1 CL E G H	26040	15573	OMIM:616078	Mental retardation, autosomal dominant 29	.		143
HP:0000177	HP:0000343	Long philtrum	2	SETBP1 CL E G H	26040	15573	OMIM:616078	Mental retardation, autosomal dominant 29			143
HP:0000177	HP:0000322	Short philtrum	2	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome	HP:0040284 - Very rare		143
HP:0000177	HP:0010803	Everted upper lip vermilion	2	SETD1A CL E G H	9739	29010	OMIM:619056	NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND DYSMORPHIC FACIES; NEDSID			6
HP:0000177	HP:0000219	Thin upper lip vermilion	2	SETD5 CL E G H	55209	25566	ORPHA:404440	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	HP:0040283 - Occasional		43
HP:0000177	HP:0000319	Smooth philtrum	2	SETD5 CL E G H	55209	25566	ORPHA:404440	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	HP:0040283 - Occasional		43
HP:0000177	HP:0000343	Long philtrum	2	SETD5 CL E G H	55209	25566	ORPHA:404440	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	HP:0040282 - Frequent		43
HP:0000177	HP:0002002	Deep philtrum	2	SETD5 CL E G H	55209	25566	ORPHA:404440	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	HP:0040283 - Occasional		43
HP:0000177	HP:0000219	Thin upper lip vermilion	2	SETD5 CL E G H	55209	25566	OMIM:615761	MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD23			43
HP:0000177	HP:0000319	Smooth philtrum	2	SETD5 CL E G H	55209	25566	OMIM:615761	MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD23			43
HP:0000177	HP:0000343	Long philtrum	2	SETD5 CL E G H	55209	25566	OMIM:615761	MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD23			43
HP:0000177	HP:0100335	Non-midline cleft lip	2	SF3B4 CL E G H	10262	10771	ORPHA:245	Nager syndrome	HP:0040283 - Occasional		49
HP:0000177	HP:0000219	Thin upper lip vermilion	2	SH3PXD2B CL E G H	285590	29242	OMIM:249420	Frank-ter Haar syndrome			134
HP:0000177	HP:0000322	Short philtrum	2	SH3PXD2B CL E G H	285590	29242	ORPHA:137834	Frank-Ter Haar syndrome	HP:0040281 - Very frequent		134
HP:0000177	HP:0000343	Long philtrum	2	SHANK3 CL E G H	85358	14294	OMIM:606232	Phelan-Mcdermid syndrome			53
HP:0000177	HP:0000161	Median cleft lip	2	SHH CL E G H	6469	10848	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		67
HP:0000177	HP:0000161	Median cleft lip	2	SHH CL E G H	6469	10848	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		67
HP:0000177	HP:0000322	Short philtrum	2	SHH CL E G H	6469	10848	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent		67
HP:0000177	HP:0010804	Tented upper lip vermilion	2	SHH CL E G H	6469	10848	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent		67
HP:0000177	HP:0000161	Median cleft lip	2	SHH CL E G H	6469	10848	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		67
HP:0000177	HP:0000161	Median cleft lip	2	SHH CL E G H	6469	10848	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		67
HP:0000177	HP:0000219	Thin upper lip vermilion	2	SHMT2 CL E G H	6472	10852	OMIM:619121	NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0000177	HP:0000322	Short philtrum	2	SHMT2 CL E G H	6472	10852	OMIM:619121	NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0000177	HP:0000343	Long philtrum	2	SHMT2 CL E G H	6472	10852	OMIM:619121	NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0000177	HP:0002002	Deep philtrum	2	SHOC2 CL E G H	8036	15454	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair	HP:0040282 - Frequent		74
HP:0000177	HP:0000219	Thin upper lip vermilion	2	SIM1 CL E G H	6492	10882	ORPHA:398079	SIM1-related Prader-Willi-like syndrome	HP:0040283 - Occasional		40
HP:0000177	HP:0000319	Smooth philtrum	2	SIN3A CL E G H	25942	19353	ORPHA:94065	15q24 microdeletion syndrome	HP:0040282 - Frequent		9
HP:0000177	HP:0000343	Long philtrum	2	SIN3A CL E G H	25942	19353	ORPHA:94065	15q24 microdeletion syndrome	HP:0040282 - Frequent		9
HP:0000177	HP:0000219	Thin upper lip vermilion	2	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome			9
HP:0000177	HP:0000319	Smooth philtrum	2	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome			9
HP:0000177	HP:0000322	Short philtrum	2	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome			9
HP:0000177	HP:0000343	Long philtrum	2	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome			9
HP:0000177	HP:0000161	Median cleft lip	2	SIX3 CL E G H	6496	10889	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		32
HP:0000177	HP:0000161	Median cleft lip	2	SIX3 CL E G H	6496	10889	OMIM:157170	Holoprosencephaly 2			32
HP:0000177	HP:0100335	Non-midline cleft lip	2	SIX3 CL E G H	6496	10889	OMIM:157170	Holoprosencephaly 2			32
HP:0000177	HP:0000161	Median cleft lip	2	SIX3 CL E G H	6496	10889	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		32
HP:0000177	HP:0000322	Short philtrum	2	SIX3 CL E G H	6496	10889	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent		32
HP:0000177	HP:0010804	Tented upper lip vermilion	2	SIX3 CL E G H	6496	10889	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent		32
HP:0000177	HP:0000161	Median cleft lip	2	SIX3 CL E G H	6496	10889	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		32
HP:0000177	HP:0000161	Median cleft lip	2	SIX3 CL E G H	6496	10889	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		32
HP:0000177	HP:0000343	Long philtrum	2	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent		150
HP:0000177	HP:0000343	Long philtrum	2	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1	.
HP:0000177	HP:0002263	Exaggerated cupid's bow	2	SLC1A3 CL E G H	6507	10941	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040283 - Occasional		63
HP:0000177	HP:0000219	Thin upper lip vermilion	2	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome	.
HP:0000177	HP:0000319	Smooth philtrum	2	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome	.
HP:0000177	HP:0000343	Long philtrum	2	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome	.
HP:0000177	HP:0010804	Tented upper lip vermilion	2	SLC25A46 CL E G H	91137	25198	OMIM:616505	Neuropathy, hereditary motor and sensory, type VIB	.		14
HP:0000177	HP:0000343	Long philtrum	2	SLC26A2 CL E G H	1836	10994	ORPHA:93298	Achondrogenesis type 1B	HP:0040281 - Very frequent		166
HP:0000177	HP:0000219	Thin upper lip vermilion	2	SLC26A2 CL E G H	1836	10994	ORPHA:56304	Atelosteogenesis type II	HP:0040283 - Occasional		166
HP:0000177	HP:0000343	Long philtrum	2	SLC26A2 CL E G H	1836	10994	ORPHA:56304	Atelosteogenesis type II	HP:0040283 - Occasional		166
HP:0000177	HP:0000219	Thin upper lip vermilion	2	SLC2A1 CL E G H	6513	11005	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040284 - Very rare		255
HP:0000177	HP:0000289	Broad philtrum	2	SLC2A1 CL E G H	6513	11005	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040284 - Very rare		255
HP:0000177	HP:0000343	Long philtrum	2	SLC2A1 CL E G H	6513	11005	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040284 - Very rare		255
HP:0000177	HP:0000161	Median cleft lip	2	SLC2A10 CL E G H	81031	13444	ORPHA:3342	Arterial tortuosity syndrome			178
HP:0000177	HP:0000343	Long philtrum	2	SLC2A10 CL E G H	81031	13444	OMIM:208050	Arterial tortuosity syndrome	.		178
HP:0000177	HP:0000322	Short philtrum	2	SLC35A1 CL E G H	10559	11021	OMIM:603585	Congenital disorder of glycosylation, type IIf	.		24
HP:0000177	HP:0000322	Short philtrum	2	SLC35A2 CL E G H	7355	11022	OMIM:300896	Congenital disorder of glycosylation, type IIm			27
HP:0000177	HP:0002263	Exaggerated cupid's bow	2	SLC35A2 CL E G H	7355	11022	OMIM:300896	Congenital disorder of glycosylation, type IIm			27
HP:0000177	HP:0002002	Deep philtrum	2	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II	HP:0040283 - Occasional		71
HP:0000177	HP:0000319	Smooth philtrum	2	SLC45A1 CL E G H	50651	17939	OMIM:617532	Intellectual developmental disorder with neuropsychiatric features	.		2
HP:0000177	HP:0000219	Thin upper lip vermilion	2	SLC6A1 CL E G H	6529	11042	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040284 - Very rare		29
HP:0000177	HP:0000289	Broad philtrum	2	SLC6A1 CL E G H	6529	11042	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040284 - Very rare		29
HP:0000177	HP:0000343	Long philtrum	2	SLC6A1 CL E G H	6529	11042	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040284 - Very rare		29
HP:0000177	HP:0000343	Long philtrum	2	SLC6A17 CL E G H	388662	31399	OMIM:616269	Mental retardation, autosomal recessive 48	.		12
HP:0000177	HP:0000343	Long philtrum	2	SLC6A17 CL E G H	388662	31399	ORPHA:457212	Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome	HP:0040282 - Frequent		12
HP:0000177	HP:0000219	Thin upper lip vermilion	2	SLC9A7 CL E G H	84679	17123	OMIM:301024	Intellectual developmental disorder, X-linked 108	.
HP:0000177	HP:0000343	Long philtrum	2	SLC9A7 CL E G H	84679	17123	OMIM:301024	Intellectual developmental disorder, X-linked 108	.
HP:0000177	HP:0000219	Thin upper lip vermilion	2	SMAD4 CL E G H	4089	6770	OMIM:139210	Myhre syndrome			504
HP:0000177	HP:0000322	Short philtrum	2	SMAD4 CL E G H	4089	6770	OMIM:139210	Myhre syndrome			504
HP:0000177	HP:0100335	Non-midline cleft lip	2	SMAD4 CL E G H	4089	6770	ORPHA:2588	Myhre syndrome			504
HP:0000177	HP:0000219	Thin upper lip vermilion	2	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS			146
HP:0000177	HP:0000322	Short philtrum	2	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS			146
HP:0000177	HP:0002263	Exaggerated cupid's bow	2	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS			146
HP:0000177	HP:0000219	Thin upper lip vermilion	2	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome			146
HP:0000177	HP:0000289	Broad philtrum	2	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome	.		146
HP:0000177	HP:0000319	Smooth philtrum	2	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome			146
HP:0000177	HP:0000319	Smooth philtrum	2	SMARCA2 CL E G H	6595	11098	ORPHA:3051	Nicolaides-Baraitser syndrome	HP:0040281 - Very frequent		146
HP:0000177	HP:0000343	Long philtrum	2	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome	.		146
HP:0000177	HP:0000343	Long philtrum	2	SMARCA2 CL E G H	6595	11098	ORPHA:3051	Nicolaides-Baraitser syndrome	HP:0040281 - Very frequent		146
HP:0000177	HP:0000219	Thin upper lip vermilion	2	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		617
HP:0000177	HP:0000289	Broad philtrum	2	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		617
HP:0000177	HP:0000219	Thin upper lip vermilion	2	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		87
HP:0000177	HP:0000289	Broad philtrum	2	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		87
HP:0000177	HP:0000343	Long philtrum	2	SMARCB1 CL E G H	6598	11103	OMIM:614608	Coffin-Siris syndrome 3			87
HP:0000177	HP:0000219	Thin upper lip vermilion	2	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		1
HP:0000177	HP:0000289	Broad philtrum	2	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		1
HP:0000177	HP:0000219	Thin upper lip vermilion	2	SMARCC2 CL E G H	6601	11105	OMIM:618362	Coffin-Siris syndrome 8	.		1
HP:0000177	HP:0000219	Thin upper lip vermilion	2	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent
HP:0000177	HP:0000289	Broad philtrum	2	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent
HP:0000177	HP:0000219	Thin upper lip vermilion	2	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		47
HP:0000177	HP:0000289	Broad philtrum	2	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		47
HP:0000177	HP:0000219	Thin upper lip vermilion	2	SMARCE1 CL E G H	6605	11109	OMIM:616938	Coffin-Siris syndrome 5			47
HP:0000177	HP:0000322	Short philtrum	2	SMARCE1 CL E G H	6605	11109	OMIM:616938	Coffin-Siris syndrome 5			47
HP:0000177	HP:0000343	Long philtrum	2	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent		135
HP:0000177	HP:0000219	Thin upper lip vermilion	2	SMC1A CL E G H	8243	11111	OMIM:300590	Cornelia de Lange syndrome 2	.		135
HP:0000177	HP:0000319	Smooth philtrum	2	SMC1A CL E G H	8243	11111	OMIM:300590	Cornelia de Lange syndrome 2			135
HP:0000177	HP:0000219	Thin upper lip vermilion	2	SMC1A CL E G H	8243	11111	OMIM:301044	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85			135
HP:0000177	HP:0000319	Smooth philtrum	2	SMC1A CL E G H	8243	11111	OMIM:301044	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85			135
HP:0000177	HP:0000322	Short philtrum	2	SMC1A CL E G H	8243	11111	OMIM:301044	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85			135
HP:0000177	HP:0000161	Median cleft lip	2	SMC1A CL E G H	8243	11111	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		135
HP:0000177	HP:0000343	Long philtrum	2	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent		91
HP:0000177	HP:0000219	Thin upper lip vermilion	2	SMC3 CL E G H	9126	2468	OMIM:610759	Cornelia de Lange syndrome 3			91
HP:0000177	HP:0000319	Smooth philtrum	2	SMC3 CL E G H	9126	2468	OMIM:610759	Cornelia de Lange syndrome 3			91
HP:0000177	HP:0000343	Long philtrum	2	SMC3 CL E G H	9126	2468	OMIM:610759	Cornelia de Lange syndrome 3			91
HP:0000177	HP:0000319	Smooth philtrum	2	SMG8 CL E G H	55181	25551	OMIM:619268	ALZAHRANI-KUWAHARA SYNDROME; ALKUS
HP:0000177	HP:0000343	Long philtrum	2	SMG8 CL E G H	55181	25551	OMIM:619268	ALZAHRANI-KUWAHARA SYNDROME; ALKUS
HP:0000177	HP:0011829	Narrow philtrum	2	SMG8 CL E G H	55181	25551	OMIM:619268	ALZAHRANI-KUWAHARA SYNDROME; ALKUS
HP:0000177	HP:0000161	Median cleft lip	2	SMO CL E G H	6608	11119	OMIM:241800	Hypothalamic hamartomascongenital hypothalamic hamartoma syndrome, included	.		22
HP:0000177	HP:0000343	Long philtrum	2	SMOC1 CL E G H	64093	20318	ORPHA:1106	Microphthalmia with limb anomalies	HP:0040283 - Occasional		15
HP:0000177	HP:0002002	Deep philtrum	2	SMOC1 CL E G H	64093	20318	OMIM:206920	Microphthalmia with limb anomalies	.		15
HP:0000177	HP:0000219	Thin upper lip vermilion	2	SMPD4 CL E G H	55627	32949	OMIM:618622	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA			1
HP:0000177	HP:0000319	Smooth philtrum	2	SMPD4 CL E G H	55627	32949	OMIM:618622	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA			1
HP:0000177	HP:0000322	Short philtrum	2	SMPD4 CL E G H	55627	32949	OMIM:618622	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA			1
HP:0000177	HP:0002002	Deep philtrum	2	SMPD4 CL E G H	55627	32949	OMIM:618622	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA			1
HP:0000177	HP:0100335	Non-midline cleft lip	2	SMPD4 CL E G H	55627	32949	OMIM:618622	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA			1
HP:0000177	HP:0010804	Tented upper lip vermilion	2	SMPD4 CL E G H	55627	32949	OMIM:618622	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA			1
HP:0000177	HP:0000319	Smooth philtrum	2	SMS CL E G H	6611	11123	OMIM:309583	Mental retardation, X-linked, syndromic, Snyder-Robinson type			19
HP:0000177	HP:0000322	Short philtrum	2	SMS CL E G H	6611	11123	OMIM:309583	Mental retardation, X-linked, syndromic, Snyder-Robinson type	.		19
HP:0000177	HP:0000319	Smooth philtrum	2	SMS CL E G H	6611	11123	ORPHA:3063	X-linked intellectual disability, Snyder type	HP:0040283 - Occasional		19
HP:0000177	HP:0000322	Short philtrum	2	SMS CL E G H	6611	11123	ORPHA:3063	X-linked intellectual disability, Snyder type	HP:0040284 - Very rare		19
HP:0000177	HP:0000343	Long philtrum	2	SNAI2 CL E G H	6591	11094	ORPHA:2884	Piebaldism	HP:0040283 - Occasional		19
HP:0000177	HP:0000219	Thin upper lip vermilion	2	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0000177	HP:0000219	Thin upper lip vermilion	2	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome
HP:0000177	HP:0000343	Long philtrum	2	SNRPB CL E G H	6628	11153	OMIM:117650	Cerebrocostomandibular syndrome	.		6
HP:0000177	HP:0000219	Thin upper lip vermilion	2	SNRPN CL E G H	6638	11164	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040283 - Occasional		37
HP:0000177	HP:0000219	Thin upper lip vermilion	2	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation	HP:0040282 - Frequent		37
HP:0000177	HP:0000289	Broad philtrum	2	SNX14 CL E G H	57231	14977	ORPHA:397709	Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome	HP:0040283 - Occasional		14
HP:0000177	HP:0000343	Long philtrum	2	SNX14 CL E G H	57231	14977	ORPHA:397709	Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome	HP:0040283 - Occasional		14
HP:0000177	HP:0002002	Deep philtrum	2	SNX14 CL E G H	57231	14977	ORPHA:397709	Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome	HP:0040283 - Occasional		14
HP:0000177	HP:0000289	Broad philtrum	2	SNX14 CL E G H	57231	14977	OMIM:616354	Spinocerebellar ataxia, autosomal recessive 20	.		14
HP:0000177	HP:0000343	Long philtrum	2	SNX14 CL E G H	57231	14977	OMIM:616354	Spinocerebellar ataxia, autosomal recessive 20	.		14
HP:0000177	HP:0000319	Smooth philtrum	2	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome	HP:0040283 - Occasional		12
HP:0000177	HP:0000322	Short philtrum	2	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome	HP:0040283 - Occasional		12
HP:0000177	HP:0000322	Short philtrum	2	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome			12
HP:0000177	HP:0000219	Thin upper lip vermilion	2	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		14
HP:0000177	HP:0000289	Broad philtrum	2	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		14
HP:0000177	HP:0000322	Short philtrum	2	SOX11 CL E G H	6664	11191	OMIM:615866	Mental retardation, autosomal dominant 27	.		14
HP:0000177	HP:0000219	Thin upper lip vermilion	2	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent
HP:0000177	HP:0000289	Broad philtrum	2	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent
HP:0000177	HP:0000343	Long philtrum	2	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia			109
HP:0000177	HP:0000215	Thick upper lip vermilion	2	SPATA5L1 CL E G H	79029	28762	OMIM:619616	NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY; NEDHLS
HP:0000177	HP:0000219	Thin upper lip vermilion	2	SPECC1L CL E G H	23384	29022	OMIM:145420	Hypertelorism, Teebi type			6
HP:0000177	HP:0000343	Long philtrum	2	SPECC1L CL E G H	23384	29022	OMIM:145420	Hypertelorism, Teebi type	.		6
HP:0000177	HP:0000343	Long philtrum	2	SPECC1L CL E G H	23384	29022	ORPHA:1519	SPECC1L-related hypertelorism syndrome	HP:0040281 - Very frequent		6
HP:0000177	HP:0000343	Long philtrum	2	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent		4
HP:0000177	HP:0000219	Thin upper lip vermilion	2	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS			4
HP:0000177	HP:0000322	Short philtrum	2	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS			4
HP:0000177	HP:0000343	Long philtrum	2	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS			4
HP:0000177	HP:0000319	Smooth philtrum	2	SPOP CL E G H	8405	11254	OMIM:618828	NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS1			16
HP:0000177	HP:0100335	Non-midline cleft lip	2	SPOP CL E G H	8405	11254	OMIM:618829	NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS2			16
HP:0000177	HP:0000343	Long philtrum	2	SPRED2 CL E G H	200734	17722	OMIM:619745	NOONAN SYNDROME 14; NS14
HP:0000177	HP:0000219	Thin upper lip vermilion	2	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0000177	HP:0000289	Broad philtrum	2	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0000177	HP:0000319	Smooth philtrum	2	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0000177	HP:0000322	Short philtrum	2	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0000177	HP:0000219	Thin upper lip vermilion	2	SRCAP CL E G H	10847	16974	OMIM:619595	DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES; DEHMBA			138
HP:0000177	HP:0000343	Long philtrum	2	SRCAP CL E G H	10847	16974	OMIM:619595	DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES; DEHMBA			138
HP:0000177	HP:0000219	Thin upper lip vermilion	2	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome			138
HP:0000177	HP:0000322	Short philtrum	2	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome			138
HP:0000177	HP:0000322	Short philtrum	2	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome	HP:0040283 - Occasional		138
HP:0000177	HP:0000161	Median cleft lip	2	STAG2 CL E G H	10735	11355	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		1
HP:0000177	HP:0000161	Median cleft lip	2	STAG2 CL E G H	10735	11355	OMIM:301043	HOLOPROSENCEPHALY 13, X-LINKED; HPE13			1
HP:0000177	HP:0000219	Thin upper lip vermilion	2	STAG2 CL E G H	10735	11355	OMIM:301022	Neurodevelopmental disorder, X-linked, with craniofacial abnormalities	.		1
HP:0000177	HP:0000319	Smooth philtrum	2	STAG2 CL E G H	10735	11355	OMIM:301022	Neurodevelopmental disorder, X-linked, with craniofacial abnormalities	.		1
HP:0000177	HP:0000322	Short philtrum	2	STAG2 CL E G H	10735	11355	OMIM:301022	Neurodevelopmental disorder, X-linked, with craniofacial abnormalities	.		1
HP:0000177	HP:0000343	Long philtrum	2	STAG2 CL E G H	10735	11355	OMIM:301022	Neurodevelopmental disorder, X-linked, with craniofacial abnormalities	.		1
HP:0000177	HP:0000161	Median cleft lip	2	STAG2 CL E G H	10735	11355	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		1
HP:0000177	HP:0000219	Thin upper lip vermilion	2	STEEP1 CL E G H	63932	26239	OMIM:301013	MENTAL RETARDATION, X-LINKED 107; MRX107
HP:0000177	HP:0000319	Smooth philtrum	2	STEEP1 CL E G H	63932	26239	OMIM:301013	MENTAL RETARDATION, X-LINKED 107; MRX107
HP:0000177	HP:0000161	Median cleft lip	2	STIL CL E G H	6491	10879	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		99
HP:0000177	HP:0000219	Thin upper lip vermilion	2	STIL CL E G H	6491	10879	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent		99
HP:0000177	HP:0000161	Median cleft lip	2	STIL CL E G H	6491	10879	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		99
HP:0000177	HP:0000161	Median cleft lip	2	STIL CL E G H	6491	10879	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		99
HP:0000177	HP:0000161	Median cleft lip	2	STIL CL E G H	6491	10879	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		99
HP:0000177	HP:0000215	Thick upper lip vermilion	2	STRADA CL E G H	92335	30172	OMIM:611087	Polyhydramnios, megalencephaly, and symptomatic epilepsy			6
HP:0000177	HP:0010804	Tented upper lip vermilion	2	STRADA CL E G H	92335	30172	ORPHA:500533	Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome	HP:0040283 - Occasional		6
HP:0000177	HP:0000219	Thin upper lip vermilion	2	STT3A CL E G H	3703	6172	OMIM:619714	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT; CDG1WAD			21
HP:0000177	HP:0000343	Long philtrum	2	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000177	HP:0011825	Tented philtrum	2	STXBP1 CL E G H	6812	11444	ORPHA:495818	9q33.3q34.11 microdeletion syndrome	HP:0040283 - Occasional		237
HP:0000177	HP:0000322	Short philtrum	2	SUFU CL E G H	51684	16466	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent		124
HP:0000177	HP:0010804	Tented upper lip vermilion	2	SUFU CL E G H	51684	16466	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent		124
HP:0000177	HP:0000319	Smooth philtrum	2	SUMF1 CL E G H	285362	20376	ORPHA:585	Multiple sulfatase deficiency	HP:0040282 - Frequent		80
HP:0000177	HP:0100335	Non-midline cleft lip	2	SUMO1 CL E G H	7341	12502	OMIM:613705	Orofacial cleft 10			8
HP:0000177	HP:0002263	Exaggerated cupid's bow	2	SUPT16H CL E G H	11198	11465	OMIM:619480	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC
HP:0000177	HP:0000343	Long philtrum	2	SUZ12 CL E G H	23512	17101	ORPHA:3447	Weaver syndrome	HP:0040281 - Very frequent		1
HP:0000177	HP:0002002	Deep philtrum	2	SUZ12 CL E G H	23512	17101	ORPHA:3447	Weaver syndrome	HP:0040282 - Frequent		1
HP:0000177	HP:0000343	Long philtrum	2	SYNE1 CL E G H	23345	17089	ORPHA:319332	Autosomal recessive myogenic arthrogryposis multiplex congenita			1129
HP:0000177	HP:0000219	Thin upper lip vermilion	2	SYNGAP1 CL E G H	8831	11497	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040284 - Very rare		108
HP:0000177	HP:0000289	Broad philtrum	2	SYNGAP1 CL E G H	8831	11497	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040284 - Very rare		108
HP:0000177	HP:0000343	Long philtrum	2	SYNGAP1 CL E G H	8831	11497	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040284 - Very rare		108
HP:0000177	HP:0000219	Thin upper lip vermilion	2	SYT1 CL E G H	6857	11509	OMIM:618218	Baker-Gordon syndrome	.		1
HP:0000177	HP:0000319	Smooth philtrum	2	SYT1 CL E G H	6857	11509	OMIM:618218	Baker-Gordon syndrome	.		1
HP:0000177	HP:0000219	Thin upper lip vermilion	2	SYT1 CL E G H	6857	11509	ORPHA:522077	Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome	HP:0040283 - Occasional		1
HP:0000177	HP:0000319	Smooth philtrum	2	SYT1 CL E G H	6857	11509	ORPHA:522077	Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome	HP:0040283 - Occasional		1
HP:0000177	HP:0000322	Short philtrum	2	TAB2 CL E G H	23118	17075	ORPHA:228410	Polyvalvular heart disease syndrome	HP:0040282 - Frequent		11
HP:0000177	HP:0000219	Thin upper lip vermilion	2	TAF1 CL E G H	6872	11535	OMIM:300966	MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33			21
HP:0000177	HP:0000343	Long philtrum	2	TAF1 CL E G H	6872	11535	OMIM:300966	MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33			21
HP:0000177	HP:0000219	Thin upper lip vermilion	2	TAF1 CL E G H	6872	11535	ORPHA:480907	X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome	HP:0040283 - Occasional		21
HP:0000177	HP:0000343	Long philtrum	2	TAF1 CL E G H	6872	11535	ORPHA:480907	X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome	HP:0040282 - Frequent		21
HP:0000177	HP:0000219	Thin upper lip vermilion	2	TAF13 CL E G H	6884	11546	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent		2
HP:0000177	HP:0000219	Thin upper lip vermilion	2	TAF6 CL E G H	6878	11540	OMIM:617126	Alazami-Yuan syndrome	.		5
HP:0000177	HP:0000343	Long philtrum	2	TAF6 CL E G H	6878	11540	OMIM:617126	Alazami-Yuan syndrome	.		5
HP:0000177	HP:0000343	Long philtrum	2	TAF8 CL E G H	129685	17300	OMIM:619972
HP:0000177	HP:0010804	Tented upper lip vermilion	2	TAF8 CL E G H	129685	17300	OMIM:619972
HP:0000177	HP:0000322	Short philtrum	2	TALDO1 CL E G H	6888	11559	OMIM:606003	Transaldolase deficiency	.		34
HP:0000177	HP:0002002	Deep philtrum	2	TALDO1 CL E G H	6888	11559	OMIM:606003	Transaldolase deficiency	.		34
HP:0000177	HP:0000322	Short philtrum	2	TAOK1 CL E G H	57551	29259	OMIM:619575	DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0000177	HP:0100335	Non-midline cleft lip	2	TAPT1 CL E G H	202018	26887	OMIM:616897	Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type			2
HP:0000177	HP:0000219	Thin upper lip vermilion	2	TASP1 CL E G H	55617	15859	OMIM:618950	SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0000177	HP:0000319	Smooth philtrum	2	TASP1 CL E G H	55617	15859	OMIM:618950	SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0000177	HP:0000343	Long philtrum	2	TASP1 CL E G H	55617	15859	OMIM:618950	SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0000177	HP:0000322	Short philtrum	2	TBC1D20 CL E G H	128637	16133	ORPHA:2510	Micro syndrome	HP:0040281 - Very frequent		15
HP:0000177	HP:0000343	Long philtrum	2	TBC1D20 CL E G H	128637	16133	OMIM:615663	Warburg micro syndrome 4			15
HP:0000177	HP:0000219	Thin upper lip vermilion	2	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome	HP:0040282 - Frequent		271
HP:0000177	HP:0000219	Thin upper lip vermilion	2	TBC1D24 CL E G H	57465	29203	OMIM:220500	Doors syndrome			271
HP:0000177	HP:0000343	Long philtrum	2	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome	HP:0040281 - Very frequent		271
HP:0000177	HP:0000343	Long philtrum	2	TBC1D24 CL E G H	57465	29203	OMIM:220500	Doors syndrome			271
HP:0000177	HP:0000343	Long philtrum	2	TBCE CL E G H	6905	11582	OMIM:241410	Hypoparathyroidism-Retardation-Dysmorphism syndrome	.		52
HP:0000177	HP:0000343	Long philtrum	2	TBCE CL E G H	6905	11582	ORPHA:2323	Sanjad-Sakati syndrome	HP:0040281 - Very frequent		52
HP:0000177	HP:0002263	Exaggerated cupid's bow	2	TBCK CL E G H	93627	28261	OMIM:616900	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3			13
HP:0000177	HP:0010804	Tented upper lip vermilion	2	TBCK CL E G H	93627	28261	OMIM:616900	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3			13
HP:0000177	HP:0000343	Long philtrum	2	TBCK CL E G H	93627	28261	ORPHA:488632	TBCK-related intellectual disability syndrome	HP:0040284 - Very rare		13
HP:0000177	HP:0010804	Tented upper lip vermilion	2	TBCK CL E G H	93627	28261	ORPHA:488632	TBCK-related intellectual disability syndrome	HP:0040283 - Occasional		13
HP:0000177	HP:0000219	Thin upper lip vermilion	2	TBL1XR1 CL E G H	79718	29529	ORPHA:487825	Pierpont syndrome	HP:0040283 - Occasional		22
HP:0000177	HP:0000289	Broad philtrum	2	TBL1XR1 CL E G H	79718	29529	ORPHA:487825	Pierpont syndrome	HP:0040282 - Frequent		22
HP:0000177	HP:0000289	Broad philtrum	2	TBL1XR1 CL E G H	79718	29529	OMIM:602342	Pierpont syndrome	.		22
HP:0000177	HP:0000319	Smooth philtrum	2	TBL1XR1 CL E G H	79718	29529	ORPHA:487825	Pierpont syndrome	HP:0040282 - Frequent		22
HP:0000177	HP:0000319	Smooth philtrum	2	TBL1XR1 CL E G H	79718	29529	OMIM:602342	Pierpont syndrome			22
HP:0000177	HP:0000343	Long philtrum	2	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000177	HP:0000322	Short philtrum	2	TBR1 CL E G H	10716	11590	ORPHA:1617	2q24 microdeletion syndrome	HP:0040282 - Frequent		1
HP:0000177	HP:0000322	Short philtrum	2	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		32
HP:0000177	HP:0000343	Long philtrum	2	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent		32
HP:0000177	HP:0000319	Smooth philtrum	2	TBX1 CL E G H	6899	11592	ORPHA:1727	22q11.2 duplication syndrome	HP:0040283 - Occasional		32
HP:0000177	HP:0000322	Short philtrum	2	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome	.		32
HP:0000177	HP:0000219	Thin upper lip vermilion	2	TCF20 CL E G H	6942	11631	OMIM:618430	Developmental delay with variable intellectual impairment and behavioral abnormalities	.		1
HP:0000177	HP:0010804	Tented upper lip vermilion	2	TCF20 CL E G H	6942	11631	OMIM:618430	Developmental delay with variable intellectual impairment and behavioral abnormalities	.		1
HP:0000177	HP:0000322	Short philtrum	2	TCF3 CL E G H	6929	11633	OMIM:619824	AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B			2
HP:0000177	HP:0010803	Everted upper lip vermilion	2	TCF3 CL E G H	6929	11633	OMIM:619824	AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B			2
HP:0000177	HP:0000322	Short philtrum	2	TCF4 CL E G H	6925	11634	OMIM:610954	Pitt-Hopkins syndrome	.		241
HP:0000177	HP:0000322	Short philtrum	2	TCF4 CL E G H	6925	11634	ORPHA:2896	Pitt-Hopkins syndrome	HP:0040281 - Very frequent		241
HP:0000177	HP:0002002	Deep philtrum	2	TCF4 CL E G H	6925	11634	OMIM:610954	Pitt-Hopkins syndrome			241
HP:0000177	HP:0000161	Median cleft lip	2	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4	HP:0040281 - Very frequent		31
HP:0000177	HP:0000322	Short philtrum	2	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4	HP:0040283 - Occasional		31
HP:0000177	HP:0000161	Median cleft lip	2	TDGF1 CL E G H	6997	11701	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		1
HP:0000177	HP:0000161	Median cleft lip	2	TDGF1 CL E G H	6997	11701	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		1
HP:0000177	HP:0000322	Short philtrum	2	TDGF1 CL E G H	6997	11701	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent		1
HP:0000177	HP:0010804	Tented upper lip vermilion	2	TDGF1 CL E G H	6997	11701	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent		1
HP:0000177	HP:0000161	Median cleft lip	2	TDGF1 CL E G H	6997	11701	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		1
HP:0000177	HP:0000161	Median cleft lip	2	TDGF1 CL E G H	6997	11701	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		1
HP:0000177	HP:0000343	Long philtrum	2	TENM3 CL E G H	55714	29944	OMIM:615145	Microphthalmia, isolated, with coloboma 9	.		12
HP:0000177	HP:0000343	Long philtrum	2	TET3 CL E G H	200424	28313	OMIM:618798	BECK-FAHRNER SYNDROME; BEFAHRS
HP:0000177	HP:0002002	Deep philtrum	2	TFAP2A CL E G H	7020	11742	ORPHA:1297	Branchio-oculo-facial syndrome	HP:0040281 - Very frequent		12
HP:0000177	HP:0100335	Non-midline cleft lip	2	TFAP2A CL E G H	7020	11742	ORPHA:1297	Branchio-oculo-facial syndrome	HP:0040282 - Frequent		12
HP:0000177	HP:0000322	Short philtrum	2	TFAP2B CL E G H	7021	11743	OMIM:169100	Char syndrome	.		104
HP:0000177	HP:0000322	Short philtrum	2	TFAP2B CL E G H	7021	11743	ORPHA:46627	Char syndrome	HP:0040281 - Very frequent		104
HP:0000177	HP:0000319	Smooth philtrum	2	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5			85
HP:0000177	HP:0010804	Tented upper lip vermilion	2	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5			85
HP:0000177	HP:0000161	Median cleft lip	2	TGIF1 CL E G H	7050	11776	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		32
HP:0000177	HP:0000161	Median cleft lip	2	TGIF1 CL E G H	7050	11776	OMIM:142946	Holoprosencephaly 4	.		32
HP:0000177	HP:0000161	Median cleft lip	2	TGIF1 CL E G H	7050	11776	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		32
HP:0000177	HP:0000322	Short philtrum	2	TGIF1 CL E G H	7050	11776	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent		32
HP:0000177	HP:0010804	Tented upper lip vermilion	2	TGIF1 CL E G H	7050	11776	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent		32
HP:0000177	HP:0000161	Median cleft lip	2	TGIF1 CL E G H	7050	11776	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		32
HP:0000177	HP:0000161	Median cleft lip	2	TGIF1 CL E G H	7050	11776	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		32
HP:0000177	HP:0000215	Thick upper lip vermilion	2	THOC6 CL E G H	79228	28369	ORPHA:363444	THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome	HP:0040283 - Occasional		1
HP:0000177	HP:0000319	Smooth philtrum	2	THOC6 CL E G H	79228	28369	ORPHA:363444	THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome	HP:0040282 - Frequent		1
HP:0000177	HP:0000219	Thin upper lip vermilion	2	THUMPD1 CL E G H	55623	23807	OMIM:619989
HP:0000177	HP:0000319	Smooth philtrum	2	THUMPD1 CL E G H	55623	23807	OMIM:619989
HP:0000177	HP:0000219	Thin upper lip vermilion	2	TLK2 CL E G H	11011	11842	OMIM:618050	Mental retardation, autosomal dominant 57			1
HP:0000177	HP:0000289	Broad philtrum	2	TMCO1 CL E G H	54499	18188	ORPHA:1394	Cerebrofaciothoracic dysplasia	HP:0040281 - Very frequent		6
HP:0000177	HP:0000219	Thin upper lip vermilion	2	TMEM147 CL E G H	10430	30414	OMIM:620075
HP:0000177	HP:0000319	Smooth philtrum	2	TMEM147 CL E G H	10430	30414	OMIM:620075
HP:0000177	HP:0000343	Long philtrum	2	TMEM147 CL E G H	10430	30414	OMIM:620075
HP:0000177	HP:0010804	Tented upper lip vermilion	2	TMEM147 CL E G H	10430	30414	OMIM:620075
HP:0000177	HP:0000322	Short philtrum	2	TMEM237 CL E G H	65062	14432	OMIM:614424	Joubert syndrome 14	.		82
HP:0000177	HP:0010804	Tented upper lip vermilion	2	TMEM237 CL E G H	65062	14432	OMIM:614424	Joubert syndrome 14	.		82
HP:0000177	HP:0000343	Long philtrum	2	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000177	HP:0000215	Thick upper lip vermilion	2	TMEM53 CL E G H	79639	26186	OMIM:619727	CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE; CTDI
HP:0000177	HP:0000343	Long philtrum	2	TMEM53 CL E G H	79639	26186	OMIM:619727	CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE; CTDI
HP:0000177	HP:0000343	Long philtrum	2	TMEM70 CL E G H	54968	26050	OMIM:614052	Mitochondrial complex V (atp synthase) deficiency, nuclear type 2	.		63
HP:0000177	HP:0000322	Short philtrum	2	TMEM70 CL E G H	54968	26050	ORPHA:1194	TMEM70-related mitochondrial encephalo-cardio-myopathy	HP:0040281 - Very frequent		63
HP:0000177	HP:0000219	Thin upper lip vermilion	2	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies	.		1
HP:0000177	HP:0000319	Smooth philtrum	2	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies	.		1
HP:0000177	HP:0000322	Short philtrum	2	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies			1
HP:0000177	HP:0000343	Long philtrum	2	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies			1
HP:0000177	HP:0002263	Exaggerated cupid's bow	2	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies			1
HP:0000177	HP:0000343	Long philtrum	2	TNNI2 CL E G H	7136	11946	OMIM:601680	Arthrogryposis, distal, type 2B	.		37
HP:0000177	HP:0000322	Short philtrum	2	TNPO2 CL E G H	30000	19998	OMIM:619556	INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND DYSMORPHIC FACIES; IDDHISD
HP:0000177	HP:0000343	Long philtrum	2	TNPO2 CL E G H	30000	19998	OMIM:619556	INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND DYSMORPHIC FACIES; IDDHISD
HP:0000177	HP:0000219	Thin upper lip vermilion	2	TNRC6B CL E G H	23112	29190	OMIM:619243	GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES; GDSBA
HP:0000177	HP:0000215	Thick upper lip vermilion	2	TOE1 CL E G H	114034	15954	ORPHA:284339	Pontocerebellar hypoplasia type 7	HP:0040282 - Frequent		6
HP:0000177	HP:0000215	Thick upper lip vermilion	2	TOE1 CL E G H	114034	15954	OMIM:614969	Pontocerebellar hypoplasia, type 7	.		6
HP:0000177	HP:0002002	Deep philtrum	2	TOE1 CL E G H	114034	15954	OMIM:614969	Pontocerebellar hypoplasia, type 7			6
HP:0000177	HP:0000343	Long philtrum	2	TOR1A CL E G H	1861	3098	OMIM:618947	ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5			47
HP:0000177	HP:0100335	Non-midline cleft lip	2	TP63 CL E G H	8626	15979	ORPHA:1072	Ankyloblepharon filiforme adnatum-cleft palate syndrome	HP:0040283 - Occasional		140
HP:0000177	HP:0100335	Non-midline cleft lip	2	TP63 CL E G H	8626	15979	ORPHA:199302	Isolated cleft lip	HP:0040282 - Frequent		140
HP:0000177	HP:0000343	Long philtrum	2	TPM3 CL E G H	7170	12012	ORPHA:171433	Intermediate nemaline myopathy	HP:0040283 - Occasional		108
HP:0000177	HP:0000219	Thin upper lip vermilion	2	TRAPPC10 CL E G H	7109	11868	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent		1
HP:0000177	HP:0000219	Thin upper lip vermilion	2	TRAPPC14 CL E G H	55262	25604	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent
HP:0000177	HP:0000343	Long philtrum	2	TRAPPC4 CL E G H	51399	19943	OMIM:618741	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, SPASTICITY, AND BRAIN ATROPHY; NEDESBA			1
HP:0000177	HP:0000219	Thin upper lip vermilion	2	TRAPPC9 CL E G H	83696	30832	ORPHA:352530	Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome	HP:0040281 - Very frequent		158
HP:0000177	HP:0000319	Smooth philtrum	2	TRAPPC9 CL E G H	83696	30832	OMIM:613192	Mental retardation, autosomal recessive 13	.		158
HP:0000177	HP:0000322	Short philtrum	2	TRAPPC9 CL E G H	83696	30832	OMIM:613192	Mental retardation, autosomal recessive 13	.		158
HP:0000177	HP:0000319	Smooth philtrum	2	TRIM8 CL E G H	81603	15579	OMIM:619428	FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME; FSGSNEDS			1
HP:0000177	HP:0000343	Long philtrum	2	TRIM8 CL E G H	81603	15579	OMIM:619428	FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME; FSGSNEDS			1
HP:0000177	HP:0000343	Long philtrum	2	TRIO CL E G H	7204	12303	OMIM:618825	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY; MRD63			8
HP:0000177	HP:0000219	Thin upper lip vermilion	2	TRIO CL E G H	7204	12303	OMIM:617061	Mental retardation, autosomal dominant 44			8
HP:0000177	HP:0000322	Short philtrum	2	TRIO CL E G H	7204	12303	OMIM:617061	Mental retardation, autosomal dominant 44			8
HP:0000177	HP:0000343	Long philtrum	2	TRIO CL E G H	7204	12303	OMIM:617061	Mental retardation, autosomal dominant 44			8
HP:0000177	HP:0000343	Long philtrum	2	TRIO CL E G H	7204	12303	ORPHA:476126	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	HP:0040283 - Occasional		8
HP:0000177	HP:0000343	Long philtrum	2	TRIP11 CL E G H	9321	12305	ORPHA:93299	Achondrogenesis type 1A	HP:0040281 - Very frequent		133
HP:0000177	HP:0000343	Long philtrum	2	TRIP11 CL E G H	9321	12305	OMIM:184260	Osteochondrodysplasia	.		133
HP:0000177	HP:0000219	Thin upper lip vermilion	2	TRIP12 CL E G H	9320	12306	OMIM:617752	Mental retardation, autosomal dominant 49			2
HP:0000177	HP:0000319	Smooth philtrum	2	TRIP12 CL E G H	9320	12306	OMIM:617752	Mental retardation, autosomal dominant 49			2
HP:0000177	HP:0000322	Short philtrum	2	TRIP12 CL E G H	9320	12306	OMIM:617752	Mental retardation, autosomal dominant 49			2
HP:0000177	HP:0000343	Long philtrum	2	TRIP12 CL E G H	9320	12306	OMIM:617752	Mental retardation, autosomal dominant 49	.		2
HP:0000177	HP:0002263	Exaggerated cupid's bow	2	TRIP12 CL E G H	9320	12306	OMIM:617752	Mental retardation, autosomal dominant 49			2
HP:0000177	HP:0000219	Thin upper lip vermilion	2	TRMT10A CL E G H	93587	28403	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome	HP:0040283 - Occasional		7
HP:0000177	HP:0000322	Short philtrum	2	TRMT10A CL E G H	93587	28403	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome	HP:0040283 - Occasional		7
HP:0000177	HP:0000343	Long philtrum	2	TRMT10A CL E G H	93587	28403	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome	HP:0040283 - Occasional		7
HP:0000177	HP:0000343	Long philtrum	2	TRPS1 CL E G H	7227	12340	ORPHA:77258	Trichorhinophalangeal syndrome type 1 and 3	HP:0040281 - Very frequent		171
HP:0000177	HP:0000219	Thin upper lip vermilion	2	TRPS1 CL E G H	7227	12340	ORPHA:502	Trichorhinophalangeal syndrome type 2	HP:0040281 - Very frequent		171
HP:0000177	HP:0000343	Long philtrum	2	TRPS1 CL E G H	7227	12340	ORPHA:502	Trichorhinophalangeal syndrome type 2	HP:0040281 - Very frequent		171
HP:0000177	HP:0002002	Deep philtrum	2	TRPS1 CL E G H	7227	12340	ORPHA:502	Trichorhinophalangeal syndrome type 2	HP:0040281 - Very frequent		171
HP:0000177	HP:0000219	Thin upper lip vermilion	2	TRPS1 CL E G H	7227	12340	OMIM:190350	Trichorhinophalangeal syndrome, type I	.		171
HP:0000177	HP:0000343	Long philtrum	2	TRPS1 CL E G H	7227	12340	OMIM:190350	Trichorhinophalangeal syndrome, type I	.		171
HP:0000177	HP:0002002	Deep philtrum	2	TRPS1 CL E G H	7227	12340	OMIM:190350	Trichorhinophalangeal syndrome, type I	.		171
HP:0000177	HP:0000219	Thin upper lip vermilion	2	TRPS1 CL E G H	7227	12340	OMIM:190351	Trichorhinophalangeal syndrome, type III			171
HP:0000177	HP:0000319	Smooth philtrum	2	TRPS1 CL E G H	7227	12340	OMIM:190351	Trichorhinophalangeal syndrome, type III	.		171
HP:0000177	HP:0000343	Long philtrum	2	TRPS1 CL E G H	7227	12340	OMIM:190351	Trichorhinophalangeal syndrome, type III	.		171
HP:0000177	HP:0000219	Thin upper lip vermilion	2	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism	.		2
HP:0000177	HP:0000319	Smooth philtrum	2	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism	.		2
HP:0000177	HP:0000322	Short philtrum	2	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism	.		2
HP:0000177	HP:0000322	Short philtrum	2	TSPAN7 CL E G H	7102	11854	OMIM:300210	MENTAL RETARDATION, X-LINKED 58; MRX58			26
HP:0000177	HP:0000219	Thin upper lip vermilion	2	TTC5 CL E G H	91875	19274	OMIM:619244	NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM; NEDCAFD
HP:0000177	HP:0000322	Short philtrum	2	TTC5 CL E G H	91875	19274	OMIM:619244	NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM; NEDCAFD
HP:0000177	HP:0000343	Long philtrum	2	TTC5 CL E G H	91875	19274	OMIM:619244	NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM; NEDCAFD
HP:0000177	HP:0010804	Tented upper lip vermilion	2	TTC5 CL E G H	91875	19274	OMIM:619244	NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM; NEDCAFD
HP:0000177	HP:0000343	Long philtrum	2	TUBB CL E G H	203068	20778	ORPHA:2505	Multiple benign circumferential skin creases on limbs	HP:0040283 - Occasional		14
HP:0000177	HP:0000219	Thin upper lip vermilion	2	TUBGCP2 CL E G H	10844	18599	OMIM:618737	PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES; PAMDDFS
HP:0000177	HP:0000319	Smooth philtrum	2	TUBGCP2 CL E G H	10844	18599	OMIM:618737	PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES; PAMDDFS
HP:0000177	HP:0000322	Short philtrum	2	TWIST1 CL E G H	7291	12428	OMIM:617746	Sweeney-Cox syndrome	.		18
HP:0000177	HP:0000215	Thick upper lip vermilion	2	TWIST2 CL E G H	117581	20670	OMIM:227260	FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE; FFDD3			7
HP:0000177	HP:0000322	Short philtrum	2	TWIST2 CL E G H	117581	20670	ORPHA:1807	Focal facial dermal dysplasia type III	HP:0040282 - Frequent		7
HP:0000177	HP:0000322	Short philtrum	2	TXNL4A CL E G H	10907	30551	OMIM:608572	Burn-Mckeown syndrome	.		19
HP:0000177	HP:0002002	Deep philtrum	2	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type	HP:0040283 - Occasional		7
HP:0000177	HP:0000219	Thin upper lip vermilion	2	UBE3B CL E G H	89910	13478	OMIM:244450	Kaufman oculocerebrofacial syndrome			13
HP:0000177	HP:0000319	Smooth philtrum	2	UBE3B CL E G H	89910	13478	OMIM:244450	Kaufman oculocerebrofacial syndrome	.		13
HP:0000177	HP:0000319	Smooth philtrum	2	UBE3B CL E G H	89910	13478	ORPHA:2707	Oculocerebrofacial syndrome, Kaufman type	HP:0040282 - Frequent		13
HP:0000177	HP:0000322	Short philtrum	2	UBE3B CL E G H	89910	13478	ORPHA:2707	Oculocerebrofacial syndrome, Kaufman type	HP:0040282 - Frequent		13
HP:0000177	HP:0000343	Long philtrum	2	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent
HP:0000177	HP:0000343	Long philtrum	2	UBR7 CL E G H	55148	20344	OMIM:619189	LI-CAMPEAU SYNDROME; LICAS			1
HP:0000177	HP:0000322	Short philtrum	2	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0000177	HP:0000343	Long philtrum	2	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent
HP:0000177	HP:0000319	Smooth philtrum	2	UGDH CL E G H	7358	12525	OMIM:618792	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84; DEE84
HP:0000177	HP:0000343	Long philtrum	2	UGP2 CL E G H	7360	12527	OMIM:618744	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83
HP:0000177	HP:0000219	Thin upper lip vermilion	2	UNC80 CL E G H	285175	26582	OMIM:616801	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2	.		23
HP:0000177	HP:0000319	Smooth philtrum	2	UNC80 CL E G H	285175	26582	OMIM:616801	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2			23
HP:0000177	HP:0000322	Short philtrum	2	UNC80 CL E G H	285175	26582	OMIM:616801	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2	.		23
HP:0000177	HP:0000219	Thin upper lip vermilion	2	UNC80 CL E G H	285175	26582	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome	HP:0040282 - Frequent		23
HP:0000177	HP:0000319	Smooth philtrum	2	UNC80 CL E G H	285175	26582	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome	HP:0040282 - Frequent		23
HP:0000177	HP:0000322	Short philtrum	2	UNC80 CL E G H	285175	26582	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome	HP:0040282 - Frequent		23
HP:0000177	HP:0010804	Tented upper lip vermilion	2	UNC80 CL E G H	285175	26582	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome	HP:0040282 - Frequent		23
HP:0000177	HP:0000322	Short philtrum	2	UPF3B CL E G H	65109	20439	ORPHA:776	Lujan-Fryns syndrome	HP:0040282 - Frequent		33
HP:0000177	HP:0000343	Long philtrum	2	USB1 CL E G H	79650	25792	OMIM:604173	Poikiloderma with neutropenia			8
HP:0000177	HP:0000319	Smooth philtrum	2	USP9X CL E G H	8239	12632	OMIM:300968	Mental retardation, X-linked 99, syndromic, female-restricted	.		27
HP:0000177	HP:0000343	Long philtrum	2	USP9X CL E G H	8239	12632	OMIM:300968	Mental retardation, X-linked 99, syndromic, female-restricted	.		27
HP:0000177	HP:0000219	Thin upper lip vermilion	2	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:0000177	HP:0000343	Long philtrum	2	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:0000177	HP:0000322	Short philtrum	2	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome	HP:0040282 - Frequent		6
HP:0000177	HP:0000322	Short philtrum	2	VPS13B CL E G H	157680	2183	ORPHA:193	Cohen syndrome	HP:0040281 - Very frequent		546
HP:0000177	HP:0000322	Short philtrum	2	VPS13B CL E G H	157680	2183	OMIM:216550	Cohen syndrome	.		546
HP:0000177	HP:0000219	Thin upper lip vermilion	2	VPS35L CL E G H	57020	24641	OMIM:619135	RITSCHER-SCHINZEL SYNDROME 3; RTSC3
HP:0000177	HP:0000343	Long philtrum	2	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000177	HP:0000215	Thick upper lip vermilion	2	VPS51 CL E G H	738	1172	OMIM:618606	PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13
HP:0000177	HP:0000219	Thin upper lip vermilion	2	VPS51 CL E G H	738	1172	OMIM:618606	PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13
HP:0000177	HP:0000322	Short philtrum	2	VPS51 CL E G H	738	1172	OMIM:618606	PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13
HP:0000177	HP:0000219	Thin upper lip vermilion	2	WAC CL E G H	51322	17327	OMIM:616708	Desanto-Shinawi syndrome			20
HP:0000177	HP:0010800	Absent cupid's bow	2	WAC CL E G H	51322	17327	ORPHA:284169	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion	HP:0040283 - Occasional		20
HP:0000177	HP:0000219	Thin upper lip vermilion	2	WAC CL E G H	51322	17327	ORPHA:466950	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation	HP:0040283 - Occasional		20
HP:0000177	HP:0000343	Long philtrum	2	WARS2 CL E G H	10352	12730	OMIM:617710	Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures			2
HP:0000177	HP:0000219	Thin upper lip vermilion	2	WARS2 CL E G H	10352	12730	ORPHA:572798	WARS2-related combined oxidative phosphorylation defect	HP:0040283 - Occasional		2
HP:0000177	HP:0000219	Thin upper lip vermilion	2	WASHC4 CL E G H	23325	29174	OMIM:615817	Mental retardation, autosomal recessive 43			25
HP:0000177	HP:0000319	Smooth philtrum	2	WDR19 CL E G H	57728	18340	OMIM:614378	Cranioectodermal dysplasia 4	HP:0040283 - Occasional		95
HP:0000177	HP:0000219	Thin upper lip vermilion	2	WDR19 CL E G H	57728	18340	OMIM:614376	Short-Rib thoracic dysplasia 5 with or without polydactyly	.		95
HP:0000177	HP:0010800	Absent cupid's bow	2	WDR26 CL E G H	80232	21208	ORPHA:513456	Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome	HP:0040282 - Frequent		8
HP:0000177	HP:0010803	Everted upper lip vermilion	2	WDR26 CL E G H	80232	21208	ORPHA:513456	Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome	HP:0040281 - Very frequent		8
HP:0000177	HP:0000215	Thick upper lip vermilion	2	WDR26 CL E G H	80232	21208	OMIM:617616	Skraban-Deardorff syndrome	.		8
HP:0000177	HP:0000289	Broad philtrum	2	WDR35 CL E G H	57539	29250	OMIM:613610	Cranioectodermal dysplasia 2	.		136
HP:0000177	HP:0000319	Smooth philtrum	2	WDR35 CL E G H	57539	29250	OMIM:613610	Cranioectodermal dysplasia 2	.		136
HP:0000177	HP:0000343	Long philtrum	2	WDR35 CL E G H	57539	29250	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040282 - Frequent		136
HP:0000177	HP:0000319	Smooth philtrum	2	WDR37 CL E G H	22884	31406	OMIM:618652	NEUROOCULOCARDIOGENITOURINARY SYNDROME; NOCGUS
HP:0000177	HP:0000322	Short philtrum	2	WDR4 CL E G H	10785	12756	OMIM:618346	Microcephaly, growth deficiency, seizures, and brain malformations	.
HP:0000177	HP:0010804	Tented upper lip vermilion	2	WDR4 CL E G H	10785	12756	OMIM:618346	Microcephaly, growth deficiency, seizures, and brain malformations	.
HP:0000177	HP:0000219	Thin upper lip vermilion	2	WDR62 CL E G H	284403	24502	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent		224
HP:0000177	HP:0000161	Median cleft lip	2	WLS CL E G H	79971	30238	OMIM:619648	ZAKI SYNDROME; ZKS
HP:0000177	HP:0000322	Short philtrum	2	WLS CL E G H	79971	30238	OMIM:619648	ZAKI SYNDROME; ZKS
HP:0000177	HP:0000322	Short philtrum	2	WNT4 CL E G H	54361	12783	ORPHA:247768	Müllerian aplasia and hyperandrogenism	HP:0040283 - Occasional		4
HP:0000177	HP:0000161	Median cleft lip	2	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome			98
HP:0000177	HP:0000322	Short philtrum	2	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional		98
HP:0000177	HP:0000343	Long philtrum	2	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent		98
HP:0000177	HP:0000219	Thin upper lip vermilion	2	WNT5A CL E G H	7474	12784	OMIM:180700	Robinow syndrome, autosomal dominant 1			98
HP:0000177	HP:0000343	Long philtrum	2	WNT5A CL E G H	7474	12784	OMIM:180700	Robinow syndrome, autosomal dominant 1	.		98
HP:0000177	HP:0100335	Non-midline cleft lip	2	WNT9B CL E G H	7484	12779	ORPHA:1848	Renal agenesis, bilateral	HP:0040283 - Occasional
HP:0000177	HP:0000343	Long philtrum	2	XYLT1 CL E G H	64131	15516	OMIM:615777	Desbuquois dysplasia 2			14
HP:0000177	HP:0000343	Long philtrum	2	XYLT1 CL E G H	64131	15516	ORPHA:370930	XYLT1-CDG	HP:0040282 - Frequent		14
HP:0000177	HP:0000343	Long philtrum	2	XYLT2 CL E G H	64132	15517	ORPHA:85194	Spondylo-ocular syndrome	HP:0040283 - Occasional		5
HP:0000177	HP:0100335	Non-midline cleft lip	2	YAP1 CL E G H	10413	16262	ORPHA:1473	Uveal coloboma-cleft lip and palate-intellectual disability			2
HP:0000177	HP:0000343	Long philtrum	2	YARS2 CL E G H	51067	24249	ORPHA:2598	Mitochondrial myopathy and sideroblastic anemia	HP:0040281 - Very frequent		45
HP:0000177	HP:0000319	Smooth philtrum	2	ZBTB18 CL E G H	10472	13030	ORPHA:36367	Distal monosomy 1q	HP:0040281 - Very frequent		16
HP:0000177	HP:0000219	Thin upper lip vermilion	2	ZBTB18 CL E G H	10472	13030	OMIM:612337	Mental retardation, autosomal dominant 22	.		16
HP:0000177	HP:0000319	Smooth philtrum	2	ZBTB18 CL E G H	10472	13030	OMIM:612337	Mental retardation, autosomal dominant 22	.		16
HP:0000177	HP:0000322	Short philtrum	2	ZBTB18 CL E G H	10472	13030	OMIM:612337	Mental retardation, autosomal dominant 22			16
HP:0000177	HP:0000319	Smooth philtrum	2	ZC4H2 CL E G H	55906	24931	OMIM:314580	Wieacker-Wolff syndrome	.		19
HP:0000177	HP:0000343	Long philtrum	2	ZC4H2 CL E G H	55906	24931	OMIM:314580	Wieacker-Wolff syndrome	.		19
HP:0000177	HP:0010806	U-Shaped upper lip vermilion	2	ZC4H2 CL E G H	55906	24931	OMIM:314580	Wieacker-Wolff syndrome	.		19
HP:0000177	HP:0000343	Long philtrum	2	ZC4H2 CL E G H	55906	24931	OMIM:301041	WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR			19
HP:0000177	HP:0010806	U-Shaped upper lip vermilion	2	ZC4H2 CL E G H	55906	24931	OMIM:301041	WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR			19
HP:0000177	HP:0000322	Short philtrum	2	ZDHHC9 CL E G H	51114	18475	ORPHA:776	Lujan-Fryns syndrome	HP:0040282 - Frequent		10
HP:0000177	HP:0000322	Short philtrum	2	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation	HP:0040282 - Frequent		362
HP:0000177	HP:0000322	Short philtrum	2	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22	HP:0040282 - Frequent		362
HP:0000177	HP:0000161	Median cleft lip	2	ZIC2 CL E G H	7546	12873	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		34
HP:0000177	HP:0002002	Deep philtrum	2	ZIC2 CL E G H	7546	12873	OMIM:609637	Holoprosencephaly 5			34
HP:0000177	HP:0000161	Median cleft lip	2	ZIC2 CL E G H	7546	12873	ORPHA:93924	Lobar holoprosencephaly	HP:0040282 - Frequent		34
HP:0000177	HP:0000322	Short philtrum	2	ZIC2 CL E G H	7546	12873	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent		34
HP:0000177	HP:0010804	Tented upper lip vermilion	2	ZIC2 CL E G H	7546	12873	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent		34
HP:0000177	HP:0000161	Median cleft lip	2	ZIC2 CL E G H	7546	12873	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		34
HP:0000177	HP:0000161	Median cleft lip	2	ZIC2 CL E G H	7546	12873	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		34
HP:0000177	HP:0000319	Smooth philtrum	2	ZMIZ1 CL E G H	57178	16493	OMIM:618659	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA
HP:0000177	HP:0000343	Long philtrum	2	ZMIZ1 CL E G H	57178	16493	OMIM:618659	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA
HP:0000177	HP:0002263	Exaggerated cupid's bow	2	ZMIZ1 CL E G H	57178	16493	OMIM:618659	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA
HP:0000177	HP:0000319	Smooth philtrum	2	ZNF148 CL E G H	7707	12933	OMIM:617260	Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies	.		4
HP:0000177	HP:0002002	Deep philtrum	2	ZNF148 CL E G H	7707	12933	OMIM:617260	Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies			4
HP:0000177	HP:0000219	Thin upper lip vermilion	2	ZNF292 CL E G H	23036	18410	OMIM:619188	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64; MRD64			3
HP:0000177	HP:0000319	Smooth philtrum	2	ZNF292 CL E G H	23036	18410	OMIM:619188	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64; MRD64			3
HP:0000177	HP:0000322	Short philtrum	2	ZNF292 CL E G H	23036	18410	OMIM:619188	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64; MRD64			3
HP:0000177	HP:0000219	Thin upper lip vermilion	2	ZNF407 CL E G H	55628	19904	OMIM:619557	SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES; SIMHA			68
HP:0000177	HP:0000289	Broad philtrum	2	ZNF462 CL E G H	58499	21684	OMIM:618619	WEISS-KRUSZKA SYNDROME; WSKA			4
HP:0000177	HP:0002263	Exaggerated cupid's bow	2	ZNF462 CL E G H	58499	21684	OMIM:618619	WEISS-KRUSZKA SYNDROME; WSKA			4
HP:0000177	HP:0000219	Thin upper lip vermilion	2	ZNF526 CL E G H	116115	29415	OMIM:619877				24
HP:0000177	HP:0000319	Smooth philtrum	2	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0000177	HP:0000343	Long philtrum	2	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0000177	HP:0010804	Tented upper lip vermilion	2	ZNHIT3 CL E G H	9326	12309	OMIM:260565	Peho syndrome			1
HP:0000177	HP:0000319	Smooth philtrum	2	ZPR1 CL E G H	8882	13051	OMIM:619321	GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES; GKAF
HP:0000177	HP:0010806	U-Shaped upper lip vermilion	2	ZSWIM6 CL E G H	57688	29316	OMIM:603671	Acromelic frontonasal dysostosis	HP:0040283 - Occasional		5
HP:0000177	HP:0000161	Median cleft lip	2	ZSWIM6 CL E G H	57688	29316	ORPHA:1827	Acromelic frontonasal dysplasia	HP:0040282 - Frequent		5
HP:0000177	HP:0100336	Bilateral cleft lip	3	CDH1 CL E G H	999	1748	ORPHA:1997	Blepharo-cheilo-odontic syndrome			1003
HP:0000177	HP:0100336	Bilateral cleft lip	3	CHUK CL E G H	1147	1974	OMIM:619339	BARTSOCAS-PAPAS SYNDROME 2; BPS2			3
HP:0000177	HP:0100336	Bilateral cleft lip	3	CILK1 CL E G H	22858	21219	OMIM:612651	ENDOCRINE-CEREBROOSTEODYSPLASIA
HP:0000177	HP:0100336	Bilateral cleft lip	3	CTNND1 CL E G H	1500	2515	ORPHA:1997	Blepharo-cheilo-odontic syndrome
HP:0000177	HP:0100336	Bilateral cleft lip	3	DLX4 CL E G H	1748	2917	OMIM:616788	Orofacial cleft 15			1
HP:0000177	HP:0008501	Median cleft lip and palate	3	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent		14
HP:0000177	HP:0008501	Median cleft lip and palate	3	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent		5
HP:0000177	HP:0008501	Median cleft lip and palate	3	FAM20C CL E G H	56975	22140	ORPHA:1832	Lethal osteosclerotic bone dysplasia	HP:0040281 - Very frequent		35
HP:0000177	HP:0008501	Median cleft lip and palate	3	FOXA2 CL E G H	3170	5022	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040284 - Very rare
HP:0000177	HP:0008501	Median cleft lip and palate	3	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent
HP:0000177	HP:0100333	Unilateral cleft lip	3	GDF11 CL E G H	10220	4216	OMIM:619122	VERTEBRAL HYPERSEGMENTATION AND OROFACIAL ANOMALIES; VHO
HP:0000177	HP:0008501	Median cleft lip and palate	3	GLI2 CL E G H	2736	4318	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040284 - Very rare		173
HP:0000177	HP:0100336	Bilateral cleft lip	3	GLI2 CL E G H	2736	4318	OMIM:610829	Holoprosencephaly 9			173
HP:0000177	HP:0034185	Median pseudocleft lip	3	H4C3 CL E G H	8364	4787	OMIM:619758	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1
HP:0000177	HP:0008501	Median cleft lip and palate	3	HESX1 CL E G H	8820	4877	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040284 - Very rare		21
HP:0000177	HP:0100333	Unilateral cleft lip	3	HYLS1 CL E G H	219844	26558	ORPHA:2189	Hydrolethalus	HP:0040282 - Frequent		31
HP:0000177	HP:0100336	Bilateral cleft lip	3	IRF6 CL E G H	3664	6121	ORPHA:199302	Isolated cleft lip	HP:0040283 - Occasional		99
HP:0000177	HP:0100333	Unilateral cleft lip	3	KAT5 CL E G H	10524	5275	OMIM:619103	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB			1
HP:0000177	HP:0100333	Unilateral cleft lip	3	KIF7 CL E G H	374654	30497	ORPHA:2189	Hydrolethalus	HP:0040282 - Frequent		167
HP:0000177	HP:0008501	Median cleft lip and palate	3	LHX4 CL E G H	89884	21734	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040284 - Very rare		43
HP:0000177	HP:0100333	Unilateral cleft lip	3	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR			228
HP:0000177	HP:0100336	Bilateral cleft lip	3	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR			228
HP:0000177	HP:0100333	Unilateral cleft lip	3	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I			57
HP:0000177	HP:0100336	Bilateral cleft lip	3	MSX1 CL E G H	4487	7391	ORPHA:199302	Isolated cleft lip	HP:0040283 - Occasional		12
HP:0000177	HP:0100336	Bilateral cleft lip	3	NECTIN1 CL E G H	5818	9706	ORPHA:3253	Cleft lip/palate-ectodermal dysplasia syndrome			4
HP:0000177	HP:0100336	Bilateral cleft lip	3	NECTIN1 CL E G H	5818	9706	ORPHA:199302	Isolated cleft lip	HP:0040283 - Occasional		4
HP:0000177	HP:0008501	Median cleft lip and palate	3	OTX2 CL E G H	5015	8522	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040284 - Very rare		41
HP:0000177	HP:0008501	Median cleft lip and palate	3	POU1F1 CL E G H	5449	9210	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040284 - Very rare		36
HP:0000177	HP:0008501	Median cleft lip and palate	3	PROP1 CL E G H	5626	9455	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040284 - Very rare		54
HP:0000177	HP:0100336	Bilateral cleft lip	3	PTCH1 CL E G H	5727	9585	OMIM:610828	Holoprosencephaly 7			665
HP:0000177	HP:0008501	Median cleft lip and palate	3	PTCH1 CL E G H	5727	9585	OMIM:610828	Holoprosencephaly 7			665
HP:0000177	HP:0100336	Bilateral cleft lip	3	RAB5IF CL E G H	55969	15870	OMIM:616994
HP:0000177	HP:0100336	Bilateral cleft lip	3	RSPO2 CL E G H	340419	28583	OMIM:618021	Tetraamelia syndrome 2	.
HP:0000177	HP:0100336	Bilateral cleft lip	3	SIX3 CL E G H	6496	10889	OMIM:157170	Holoprosencephaly 2			32
HP:0000177	HP:0008501	Median cleft lip and palate	3	SIX3 CL E G H	6496	10889	OMIM:157170	Holoprosencephaly 2	.		32
HP:0000177	HP:0008501	Median cleft lip and palate	3	SLC2A10 CL E G H	81031	13444	ORPHA:3342	Arterial tortuosity syndrome	HP:0040282 - Frequent		178
HP:0000177	HP:0100333	Unilateral cleft lip	3	SMAD4 CL E G H	4089	6770	ORPHA:2588	Myhre syndrome	HP:0040283 - Occasional		504
HP:0000177	HP:0100336	Bilateral cleft lip	3	SMPD4 CL E G H	55627	32949	OMIM:618622	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA			1
HP:0000177	HP:0100336	Bilateral cleft lip	3	SPOP CL E G H	8405	11254	OMIM:618829	NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS2			16
HP:0000177	HP:0100333	Unilateral cleft lip	3	SUMO1 CL E G H	7341	12502	OMIM:613705	Orofacial cleft 10	.		8
HP:0000177	HP:0100333	Unilateral cleft lip	3	TAPT1 CL E G H	202018	26887	OMIM:616897	Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type			2
HP:0000177	HP:0008501	Median cleft lip and palate	3	TGIF1 CL E G H	7050	11776	OMIM:142946	Holoprosencephaly 4	.		32
HP:0000177	HP:0100336	Bilateral cleft lip	3	TP63 CL E G H	8626	15979	ORPHA:199302	Isolated cleft lip	HP:0040283 - Occasional		140
HP:0000177	HP:0034185	Median pseudocleft lip	3	WLS CL E G H	79971	30238	OMIM:619648	ZAKI SYNDROME; ZKS
HP:0000177	HP:0008501	Median cleft lip and palate	3	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent		98
HP:0000177	HP:0100336	Bilateral cleft lip	3	YAP1 CL E G H	10413	16262	ORPHA:1473	Uveal coloboma-cleft lip and palate-intellectual disability			2
HP:0000177	HP:0002744	Bilateral cleft lip and palate	4	CDH1 CL E G H	999	1748	ORPHA:1997	Blepharo-cheilo-odontic syndrome	HP:0040281 - Very frequent		1003
HP:0000177	HP:0002744	Bilateral cleft lip and palate	4	CHUK CL E G H	1147	1974	OMIM:619339	BARTSOCAS-PAPAS SYNDROME 2; BPS2			3
HP:0000177	HP:0002744	Bilateral cleft lip and palate	4	CTNND1 CL E G H	1500	2515	ORPHA:1997	Blepharo-cheilo-odontic syndrome	HP:0040281 - Very frequent
HP:0000177	HP:0002744	Bilateral cleft lip and palate	4	GLI2 CL E G H	2736	4318	OMIM:610829	Holoprosencephaly 9			173
HP:0000177	HP:0002744	Bilateral cleft lip and palate	4	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR			228
HP:0000177	HP:0002744	Bilateral cleft lip and palate	4	NECTIN1 CL E G H	5818	9706	ORPHA:3253	Cleft lip/palate-ectodermal dysplasia syndrome	HP:0040281 - Very frequent		4
HP:0000177	HP:0002744	Bilateral cleft lip and palate	4	PTCH1 CL E G H	5727	9585	OMIM:610828	Holoprosencephaly 7			665
HP:0000177	HP:0002744	Bilateral cleft lip and palate	4	SIX3 CL E G H	6496	10889	OMIM:157170	Holoprosencephaly 2			32
HP:0000177	HP:0002744	Bilateral cleft lip and palate	4	SPOP CL E G H	8405	11254	OMIM:618829	NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS2			16
HP:0000177	HP:0002744	Bilateral cleft lip and palate	4	YAP1 CL E G H	10413	16262	ORPHA:1473	Uveal coloboma-cleft lip and palate-intellectual disability	HP:0040282 - Frequent		2