Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	AARS1 CL E G H	16	20	OMIM:619691	TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE; TTD8
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	ABCC9 CL E G H	10060	60	OMIM:239850	Hypertrichotic osteochondrodysplasia		254
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	ABCC9 CL E G H	10060	60	OMIM:619719	INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS		254
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	ACTB CL E G H	60	132	OMIM:243310	Baraitser-Winter syndrome 1		72
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	ACTG1 CL E G H	71	144	OMIM:614583	Baraitser-Winter syndrome 2		123
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	ADAMTSL1 CL E G H	92949	14632	ORPHA:521445	Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	ADARB1 CL E G H	104	226	OMIM:618862	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES; NEDHYMS		1
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	ADGRG6 CL E G H	57211	13841	OMIM:616503	Lethal congenital contracture syndrome 9		5
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome		47
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	ADNP CL E G H	23394	15766	OMIM:615873	Helsmoortel-van der Aa syndrome		47
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	ADSL CL E G H	158	291	OMIM:103050	Adenylosuccinase deficiency		118
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	ADSL CL E G H	158	291	ORPHA:46	Adenylosuccinate lyase deficiency		118
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS		1
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	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:0011339	HP:0011339	Abnormality of upper lip vermillion	0	AGL CL E G H	178	321	OMIM:232400	Glycogen storage disease III		216
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	AGO2 CL E G H	27161	3263	OMIM:619149	LESSEL-KREIENKAMP SYNDROME; LESKRES
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	ALDH6A1 CL E G H	4329	7179	OMIM:614105	Methylmalonate semialdehyde dehydrogenase deficiency		35
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG		68
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	ALG12 CL E G H	79087	19358	OMIM:607143	Congenital disorder of glycosylation, type Ig		68
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG		93
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	AMMECR1 CL E G H	9949	467	OMIM:300990	Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis		2
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	ANKLE2 CL E G H	23141	29101	ORPHA:2512	Autosomal recessive primary microcephaly		3
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	ANKRD11 CL E G H	29123	21316	ORPHA:2332	KBG syndrome		102
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	ANKRD11 CL E G H	29123	21316	OMIM:148050	Kbg syndrome		102
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	ANKRD17 CL E G H	26057	23575	OMIM:619504	CHOPRA-AMIEL-GORDON SYNDROME; CAGS		2
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	AP2M1 CL E G H	1173	564	OMIM:618587	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 60, WITH SEIZURES; MRD60
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	AP2M1 CL E G H	1173	564	ORPHA:1942	Myoclonic-astatic epilepsy
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	AP3B1 CL E G H	8546	566	OMIM:608233	Hermansky-Pudlak syndrome 2		83
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	AP4B1 CL E G H	10717	572	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia		49
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	AP4E1 CL E G H	23431	573	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia		48
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	AP4M1 CL E G H	9179	574	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia		41
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	AP4S1 CL E G H	11154	575	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia		18
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	APC CL E G H	324	583	ORPHA:261584	Familial adenomatous polyposis due to 5q22.2 microdeletion		3179
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	ARHGEF2 CL E G H	9181	682	OMIM:617523	Neurodevelopmental disorder with midbrain and hindbrain malformations		1
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome		88
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome		219
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1		219
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome		25
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	ARX CL E G H	170302	18060	OMIM:300215	Lissencephaly, X-linked, 2		166
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	ASPM CL E G H	259266	19048	ORPHA:2512	Autosomal recessive primary microcephaly		512
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	ASXL2 CL E G H	55252	23805	OMIM:617190	Shashi-Pena syndrome		7
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS		49
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	ATIC CL E G H	471	794	ORPHA:250977	AICA-ribosiduria		4
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	ATIC CL E G H	471	794	OMIM:608688	Aicar transformylase/imp cyclohydrolase deficiency		4
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	ATN1 CL E G H	1822	3033	OMIM:618494	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies		16
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	ATP1A2 CL E G H	477	800	ORPHA:2131	Alternating hemiplegia of childhood		239
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	ATP1A3 CL E G H	478	801	ORPHA:2131	Alternating hemiplegia of childhood		150
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome		5
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	ATRX CL E G H	546	886	ORPHA:847	Alpha-thalassemia-X-linked intellectual disability syndrome		169
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	ATRX CL E G H	546	886	OMIM:301040	Alpha-Thalassemia/mental retardation syndrome, X-linked		169
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	ATRX CL E G H	546	886	OMIM:309580	Mental retardation-hypotonic facies syndrome, X-linked, 1		169
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome		36
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome		36
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	B4GALT1 CL E G H	2683	924	ORPHA:79332	B4GALT1-CDG		85
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	BAP1 CL E G H	8314	950	OMIM:619762	KURY-ISIDOR SYNDROME; KURIS		184
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	BCL11A CL E G H	53335	13221	OMIM:617101	Intellectual developmental disorder with persistence of fetal hemoglobin		11
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	BCL11B CL E G H	64919	13222	OMIM:618092	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES		3
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome		5
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	BMP2 CL E G H	650	1069	OMIM:617877	Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies		13
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	BPTF CL E G H	2186	3581	ORPHA:529962	17q24.2 microdeletion syndrome		2
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	BPTF CL E G H	2186	3581	OMIM:617755	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES; NEDDFL		2
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	BRAT1 CL E G H	221927	21701	OMIM:618056	Neurodevelopmental disorder with cerebellar atrophy and with or without seizures		20
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	BRCA1 CL E G H	672	1100	OMIM:617883	Fanconi anemia, complementation group S		5769
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	CACNA1A CL E G H	773	1388	ORPHA:2131	Alternating hemiplegia of childhood		449
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	CACNA1C CL E G H	775	1390	OMIM:620029			572
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	CACNA1C CL E G H	775	1390	OMIM:601005	Timothy syndrome		572
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	CCNQ CL E G H	92002	28434	ORPHA:140952	Syndactyly-telecanthus-anogenital and renal malformations syndrome		7
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	CCNQ CL E G H	92002	28434	OMIM:300707	Toe syndactyly, telecanthus, and anogenital and renal malformations		7
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	CDC42 CL E G H	998	1736	ORPHA:487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome		6
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	CDC42 CL E G H	998	1736	OMIM:616737	Takenouchi-Kosaki syndrome		6
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	CDH11 CL E G H	1009	1750	OMIM:211380	Elsahy-Waters syndrome		2
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	CDH11 CL E G H	1009	1750	OMIM:619736	TEEBI HYPERTELORISM SYNDROME 2; TBHS2		2
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	CDH2 CL E G H	1000	1759	OMIM:618929	AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	CDK10 CL E G H	8558	1770	OMIM:617694	Al Kaissi syndrome		2
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder		8
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	CDK19 CL E G H	23097	19338	OMIM:618916	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 87; DEE87
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	CDK5RAP2 CL E G H	55755	18672	ORPHA:2512	Autosomal recessive primary microcephaly		181
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	CDK6 CL E G H	1021	1777	ORPHA:2512	Autosomal recessive primary microcephaly		6
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	CDON CL E G H	50937	17104	ORPHA:280200	Microform holoprosencephaly		200
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	CENPJ CL E G H	55835	17272	ORPHA:2512	Autosomal recessive primary microcephaly		161
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	CEP135 CL E G H	9662	29086	ORPHA:2512	Autosomal recessive primary microcephaly		38
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	CEP152 CL E G H	22995	29298	ORPHA:2512	Autosomal recessive primary microcephaly		146
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	CEP63 CL E G H	80254	25815	ORPHA:2512	Autosomal recessive primary microcephaly		31
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	CHAMP1 CL E G H	283489	20311	OMIM:616579	Mental retardation, autosomal dominant 40		16
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	CHD2 CL E G H	1106	1917	ORPHA:1942	Myoclonic-astatic epilepsy		227
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	CHMP1A CL E G H	5119	8740	OMIM:614961	Pontocerebellar hypoplasia, type 8		19
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	CHST14 CL E G H	113189	24464	OMIM:601776	Ehlers-Danlos syndrome, musculocontractural type 1		27
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	CHST14 CL E G H	113189	24464	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome		27
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	CILK1 CL E G H	22858	21219	OMIM:612651	ENDOCRINE-CEREBROOSTEODYSPLASIA
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	CIT CL E G H	11113	1985	ORPHA:2512	Autosomal recessive primary microcephaly		15
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA		2
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	CLCN3 CL E G H	1182	2021	OMIM:619517	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ABNORMALITIES; NEDSBA		2
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	CLCN6 CL E G H	1185	2024	OMIM:619173	NEURODEGENERATION, CHILDHOOD-ONSET, WITH HYPOTONIA, RESPIRATORY INSUFFICIENCY, AND BRAIN IMAGING ABNORMALITIES; CONRIBA
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	CLP1 CL E G H	10978	16999	OMIM:615803	Pontocerebellar hypoplasia, type 10		7
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	CLTC CL E G H	1213	2092	OMIM:617854	Mental retardation, autosomal dominant 56		1
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	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:0011339	HP:0011339	Abnormality of upper lip vermillion	0	COG1 CL E G H	9382	6545	ORPHA:263508	COG1-CDG		52
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	COG1 CL E G H	9382	6545	OMIM:611209	Congenital disorder of glycosylation, type IIg		52
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	COL11A1 CL E G H	1301	2186	OMIM:154780	Marshall syndrome		215
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	COL11A1 CL E G H	1301	2186	ORPHA:560	Marshall syndrome		215
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	COPB2 CL E G H	9276	2232	ORPHA:2512	Autosomal recessive primary microcephaly
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	CPLX1 CL E G H	10815	2309	OMIM:617976	Epileptic encephalopathy, early infantile, 63		1
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	CREBBP CL E G H	1387	2348	OMIM:618332	MENKE-HENNEKAM SYNDROME 1; MKHK1		291
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1		291
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	CSF1R CL E G H	1436	2433	OMIM:618476	Brain abnormalities, neurodegeneration, and dysosteosclerosis		149
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	CSNK2A1 CL E G H	1457	2457	OMIM:617062	Okur-Chung neurodevelopmental syndrome		12
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder		20
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	CTNNB1 CL E G H	1499	2514	OMIM:615075	Neurodevelopmental disorder with spastic diplegia and visual defects		88
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	CTNNB1 CL E G H	1499	2514	ORPHA:404473	Severe intellectual disability-progressive spastic diplegia syndrome		88
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	CYFIP2 CL E G H	26999	13760	OMIM:618008	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65; EIEE65		1
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	DCHS1 CL E G H	8642	13681	OMIM:601390	Van maldergem syndrome 1		27
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	DCPS CL E G H	28960	29812	OMIM:616459	Al-Raqad syndrome		5
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	DDB1 CL E G H	1642	2717	OMIM:619426	WHITE-KERNOHAN SYNDROME; WHIKERS
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	DDX59 CL E G H	83479	25360	ORPHA:2919	Orofaciodigital syndrome type 5		2
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	DDX59 CL E G H	83479	25360	OMIM:174300	Orofaciodigital syndrome V		2
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	DEAF1 CL E G H	10522	14677	OMIM:615828	Mental retardation, autosomal dominant 24		33
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	DEAF1 CL E G H	10522	14677	ORPHA:819	Smith-Magenis syndrome		33
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	DENND5A CL E G H	23258	19344	OMIM:617281	Epileptic encephalopathy, early infantile, 49		6
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	DHPS CL E G H	1725	2869	OMIM:618480	Neurodevelopmental disorder with seizures and speech and walking impairment
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	DIS3L2 CL E G H	129563	28648	OMIM:267000	Perlman syndrome		164
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	DISP1 CL E G H	84976	19711	ORPHA:280200	Microform holoprosencephaly		22
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	DLK1 CL E G H	8788	2907	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion		1
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14		1
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	DLL1 CL E G H	28514	2908	ORPHA:280200	Microform holoprosencephaly		3
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	DMPK CL E G H	1760	2933	ORPHA:589821	Congenital-onset Steinert myotonic dystrophy		152
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	DNMT3A CL E G H	1788	2978	OMIM:615879	Tatton-Brown-Rahman syndrome		44
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	DPF2 CL E G H	5977	9964	OMIM:618027	Coffin-Siris syndrome 7
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	DPM1 CL E G H	8813	3005	ORPHA:79322	DPM1-CDG		27
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	DPM2 CL E G H	8818	3006	OMIM:615042	Congenital disorder of glycosylation, type Iu		26
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	DPM2 CL E G H	8818	3006	ORPHA:329178	Congenital muscular dystrophy with intellectual disability and severe epilepsy		26
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	DSE CL E G H	29940	21144	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome		13
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	DVL1 CL E G H	1855	3084	OMIM:180700	Robinow syndrome, autosomal dominant 1		14
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	DVL1 CL E G H	1855	3084	OMIM:616331	Robinow syndrome, autosomal dominant 2		14
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	DYRK1A CL E G H	1859	3091	OMIM:614104	Mental retardation, autosomal dominant 7		134
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS		25
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	EDA CL E G H	1896	3157	OMIM:305100	Ectodermal dysplasia 1, hypohidrotic, X-linked		115
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	EDA CL E G H	1896	3157	ORPHA:181	X-linked hypohidrotic ectodermal dysplasia		115
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	EDA2R CL E G H	60401	17756	ORPHA:181	X-linked hypohidrotic ectodermal dysplasia		11
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	EDAR CL E G H	10913	2895	OMIM:224900	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive		86
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	EDARADD CL E G H	128178	14341	OMIM:224900	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive		56
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	EDEM3 CL E G H	80267	16787	OMIM:619493	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v; CDG2V
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	EEF1A2 CL E G H	1917	3192	OMIM:616393	Mental retardation, autosomal dominant 38		60
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	EHMT1 CL E G H	79813	24650	OMIM:610253	Kleefstra syndrome		223
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	EIF5A CL E G H	1984	3300	OMIM:619376	FAUNDES-BANKA SYNDROME; FABAS
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	EP300 CL E G H	2033	3373	OMIM:618333	MENKE-HENNEKAM SYNDROME 2; MKHK2		250
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1		250
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome		40
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	EXOC2 CL E G H	55770	24968	OMIM:619306	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA; NEDFACH		1
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	EXOSC2 CL E G H	23404	17097	OMIM:617763	Short stature, hearing loss, retinitis pigmentosa, and distinctive facies
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	EXT1 CL E G H	2131	3512	ORPHA:502	Trichorhinophalangeal syndrome type 2		96
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	FAR1 CL E G H	84188	26222	ORPHA:438178	Fatty acyl-CoA reductase 1 deficiency		7
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	FAR1 CL E G H	84188	26222	OMIM:616154	PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER; PFCRD		7
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	FAT4 CL E G H	79633	23109	OMIM:615546	Van maldergem syndrome 2		114
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	FBN1 CL E G H	2200	3603	OMIM:614185	GELEOPHYSIC DYSPLASIA 2; GPHYSD2		1361
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	FBXO28 CL E G H	23219	29046	OMIM:619777	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	FGF8 CL E G H	2253	3686	ORPHA:280200	Microform holoprosencephaly		17
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	FGFR1 CL E G H	2260	3688	ORPHA:280200	Microform holoprosencephaly		172
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome		111
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	FLII CL E G H	2314	3750	ORPHA:819	Smith-Magenis syndrome
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	FOXG1 CL E G H	2290	3811	ORPHA:261144	FOXG1 syndrome due to 14q12 microdeletion		177
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	FOXG1 CL E G H	2290	3811	OMIM:613454	Rett syndrome, congenital variant		177
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	FOXH1 CL E G H	8928	3814	ORPHA:280200	Microform holoprosencephaly		48
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	GAD1 CL E G H	2571	4092	OMIM:619124	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE89		44
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	GALNT2 CL E G H	2590	4124	OMIM:618885	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	GAS1 CL E G H	2619	4165	ORPHA:280200	Microform holoprosencephaly		2
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	GATAD2B CL E G H	57459	30778	OMIM:615074	Mental retardation, autosomal dominant 18		33
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	GATAD2B CL E G H	57459	30778	ORPHA:363686	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome		33
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	GBA1 CL E G H	2629	4177	OMIM:608013	Gaucher disease, perinatal lethal
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		39
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		34
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	GLI2 CL E G H	2736	4318	ORPHA:280200	Microform holoprosencephaly		173
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	GLIS3 CL E G H	169792	28510	OMIM:610199	Diabetes mellitus, neonatal, with congenital hypothyroidism		143
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	GNAI1 CL E G H	2770	4384	OMIM:619854
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	GNE CL E G H	10020	23657	OMIM:269921	SIALURIA		173
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	GNE CL E G H	10020	23657	ORPHA:3166	Sialuria		173
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	GPC4 CL E G H	2239	4452	OMIM:301026	Keipert syndrome
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	GPC4 CL E G H	2239	4452	ORPHA:2662	Keipert syndrome
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	H3-3A CL E G H	3020	4764	OMIM:619720	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	H4C9 CL E G H	8294	4793	OMIM:619951
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	HDAC8 CL E G H	55869	13315	ORPHA:3459	Wilson-Turner syndrome		37
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome		38
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	HIVEP2 CL E G H	3097	4921	OMIM:616977	Mental retardation, autosomal dominant 43		13
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	HK1 CL E G H	3098	4922	OMIM:618547	NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES; NEDVIBA		11
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	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:0011339	HP:0011339	Abnormality of upper lip vermillion	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:0011339	HP:0011339	Abnormality of upper lip vermillion	0	HNRNPU CL E G H	3192	5048	ORPHA:238769	1q44 microdeletion syndrome		39
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	HOXB1 CL E G H	3211	5111	OMIM:614744	Facial paresis, hereditary congenital, 3		2
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	HUWE1 CL E G H	10075	30892	OMIM:309590	Mental retardation, x-linked syndromic, Turner type		98
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	IER3IP1 CL E G H	51124	18550	OMIM:614231	Microcephaly, epilepsy, and diabetes syndrome		6
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	IFIH1 CL E G H	64135	18873	OMIM:182250	Singleton-Merten syndrome 1		28
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	IFT43 CL E G H	112752	29669	OMIM:617866	SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY; SRTD18		11
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	IGF1R CL E G H	3480	5465	OMIM:270450	Insulin-Like growth factor I, resistance to		268
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	IL1RAPL1 CL E G H	11141	5996	OMIM:300143	Mental retardation, X-linked 21		42
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	IQSEC2 CL E G H	23096	29059	ORPHA:819	Smith-Magenis syndrome		119
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	IRF6 CL E G H	3664	6121	ORPHA:1300	Autosomal dominant popliteal pterygium syndrome		99
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	IRX5 CL E G H	10265	14361	OMIM:611174	Hamamy syndrome		4
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome		34
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	KAT6A CL E G H	7994	13013	ORPHA:457193	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome		34
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	KATNB1 CL E G H	10300	6217	OMIM:616212	Lissencephaly 6, with microcephaly		10
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	KCNH1 CL E G H	3756	6250	ORPHA:420561	Temple-Baraitser syndrome		13
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	KCNJ2 CL E G H	3759	6263	OMIM:170390	Andersen cardiodysrhythmic periodic paralysis		193
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	KCNJ2 CL E G H	3759	6263	ORPHA:37553	Andersen-Tawil syndrome		193
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	KCNJ5 CL E G H	3762	6266	ORPHA:37553	Andersen-Tawil syndrome		128
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	KCNJ6 CL E G H	3763	6267	OMIM:614098	Keppen-Lubinsky syndrome		3
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	KCNJ6 CL E G H	3763	6267	ORPHA:435628	Keppen-Lubinsky syndrome		3
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	KCNK4 CL E G H	50801	6279	OMIM:618381	Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	KCNK9 CL E G H	51305	6283	OMIM:612292	BIRK-BAREL SYNDROME		4
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	KCNK9 CL E G H	51305	6283	ORPHA:166108	Intellectual disability, Birk-Barel type		4
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	KCNMA1 CL E G H	3778	6284	OMIM:618729	LIANG-WANG SYNDROME; LIWAS		114
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	KDM1A CL E G H	23028	29079	OMIM:616728	Cleft palate, psychomotor retardation, and distinctive facial features		3
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	KDM1A CL E G H	23028	29079	ORPHA:477993	Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome		3
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	KDM3B CL E G H	51780	1337	OMIM:618846	DIETS-JONGMANS SYNDROME; DIJOS
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	KDM4B CL E G H	23030	29136	OMIM:619320	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	KDM5C CL E G H	8242	11114	OMIM:300534	Mental retardation, X-linked, syndromic, Claes-Jensen type		81
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	KIF11 CL E G H	3832	6388	OMIM:152950	Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation		46
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	KIF14 CL E G H	9928	19181	ORPHA:2512	Autosomal recessive primary microcephaly		9
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	KIF15 CL E G H	56992	17273	ORPHA:261323	21q22.11q22.12 microdeletion syndrome
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome		167
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	KMT2A CL E G H	4297	7132	ORPHA:319182	Wiedemann-Steiner syndrome		91
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	KMT2A CL E G H	4297	7132	OMIM:605130	Wiedemann-Steiner syndrome		91
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	KNL1 CL E G H	57082	24054	ORPHA:2512	Autosomal recessive primary microcephaly		112
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	LAS1L CL E G H	81887	25726	ORPHA:3459	Wilson-Turner syndrome		8
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	LMBRD1 CL E G H	55788	23038	OMIM:277380	Methylmalonic aciduria and homocystinuria, Cblf type		46
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	MAF CL E G H	4094	6776	ORPHA:1272	Aymé-Gripp syndrome		21
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	MAF CL E G H	4094	6776	OMIM:601088	Ayme-Gripp syndrome		21
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome		63
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome		63
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	MAGEL2 CL E G H	54551	6814	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1		63
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	MAN1B1 CL E G H	11253	6823	ORPHA:397941	MAN1B1-CDG		93
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	MAN1B1 CL E G H	11253	6823	OMIM:614202	Rafiq syndrome		93
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	MAP1B CL E G H	4131	6836	OMIM:618918	PERIVENTRICULAR NODULAR HETEROTOPIA 9; PVNH9
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	MAPK1 CL E G H	5594	6871	ORPHA:261330	Distal 22q11.2 microdeletion syndrome		2
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	MAPK1 CL E G H	5594	6871	OMIM:619087	NOONAN SYNDROME 13; NS13		2
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	MAPK8IP3 CL E G H	23162	6884	OMIM:618443	Neurodevelopmental disorder with or without variable brain abnormalities
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	MAPRE2 CL E G H	10982	6891	OMIM:616734	Skin creases, congenital symmetric circumferential, 2		4
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	MBD5 CL E G H	55777	20444	ORPHA:228402	2q23.1 microdeletion syndrome		252
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1		252
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	MCM7 CL E G H	4176	6950	ORPHA:2512	Autosomal recessive primary microcephaly
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	MCPH1 CL E G H	79648	6954	ORPHA:2512	Autosomal recessive primary microcephaly		155
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q		3
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	MECP2 CL E G H	4204	6990	OMIM:300260	Mental retardation, x-linked syndromic, Lubs type		950
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	MECP2 CL E G H	4204	6990	ORPHA:1762	Proximal Xq28 duplication syndrome		950
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	MED12 CL E G H	9968	11957	OMIM:309520	Lujan-Fryns syndrome		228
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	MED12L CL E G H	116931	16050	OMIM:618872	NIZON-ISIDOR SYNDROME; NIZIDS
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	MED13 CL E G H	9969	22474	OMIM:618009	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 61; MRD61		4
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome		43
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	MED25 CL E G H	81857	28845	OMIM:616449	Basel-Vanagaite-Smirin-Yosef syndrome		43
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	MED27 CL E G H	9442	2377	OMIM:619286	NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA; NEDSCAC
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	MEF2C CL E G H	4208	6996	OMIM:613443	Mental retardation, autosomal dominant 20		132
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	MEG3 CL E G H	55384	14575	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion		1
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14		1
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	MEIS2 CL E G H	4212	7001	OMIM:600987	Cleft palate, cardiac defects, and mental retardation		7
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	MESD CL E G H	23184	13520	OMIM:618644	OSTEOGENESIS IMPERFECTA, TYPE XX; OI20
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	METTL5 CL E G H	29081	25006	ORPHA:2512	Autosomal recessive primary microcephaly
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	METTL5 CL E G H	29081	25006	OMIM:618665	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 72; MRT72
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	MFSD2A CL E G H	84879	25897	ORPHA:2512	Autosomal recessive primary microcephaly		5
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	MICU1 CL E G H	10367	1530	OMIM:615673	Myopathy with extrapyramidal signs		14
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I		57
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	MINPP1 CL E G H	9562	7102	ORPHA:284339	Pontocerebellar hypoplasia type 7		3
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome		5
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1		127
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	MPC1 CL E G H	51660	21606	OMIM:614741	Mitochondrial pyruvate carrier deficiency		6
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	MSL3 CL E G H	10943	7370	OMIM:301032	BASILICATA-AKHTAR SYNDROME; MRXSBA
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	MTOR CL E G H	2475	3942	OMIM:616638	Smith-Kingsmore syndrome		68
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	MYL2 CL E G H	4633	7583	OMIM:619424	MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY; MFM12		131
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	MYMX CL E G H	101929726	52391	OMIM:619941
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	MYO18B CL E G H	84700	18150	OMIM:616549	Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism		5
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	MYOD1 CL E G H	4654	7611	OMIM:618975	MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES; MYODRIF
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome		23
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	NAA10 CL E G H	8260	18704	ORPHA:276432	Ogden syndrome		23
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	NAA20 CL E G H	51126	15908	OMIM:619717	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73; MRT73
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	NALCN CL E G H	259232	19082	OMIM:615419	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1		48
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	NALCN CL E G H	259232	19082	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome		48
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	NCAPD3 CL E G H	23310	28952	ORPHA:2512	Autosomal recessive primary microcephaly		1
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	NCAPG2 CL E G H	54892	21904	OMIM:618460	Khan-Khan-Katsanis syndrome		2
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	NDN CL E G H	4692	7675	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	NEXMIF CL E G H	340533	29433	OMIM:300912	Mental retardation, X-linked 98		52
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	NEXMIF CL E G H	340533	29433	ORPHA:1942	Myoclonic-astatic epilepsy		52
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	NEXMIF CL E G H	340533	29433	ORPHA:85277	X-linked intellectual disability, Cantagrel type		52
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	NFIA CL E G H	4774	7784	OMIM:613735	Brain malformations with or without urinary tract defects		12
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1		494
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	NODAL CL E G H	4838	7865	ORPHA:280200	Microform holoprosencephaly		45
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1		22
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome		10
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome		1
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	NRCAM CL E G H	4897	7994	OMIM:619833			2
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	NSRP1 CL E G H	84081	25305	OMIM:620001
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	NSUN2 CL E G H	54888	25994	OMIM:611091	Mental retardation, autosomal recessive 5		84
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome		2
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	OCA2 CL E G H	4948	8101	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1		121
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe		88
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	ODC1 CL E G H	4953	8109	OMIM:619075	BACHMANN-BUPP SYNDROME; BABS		1
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	OFD1 CL E G H	8481	2567	OMIM:300209	Simpson-golabi-behmel syndrome, type 2		201
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	OGT CL E G H	8473	8127	OMIM:300997	Mental retardation, X-linked 106		4
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	OPHN1 CL E G H	4983	8148	OMIM:300486	Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance		55
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	OTUD6B CL E G H	51633	24281	ORPHA:505237	Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome		4
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	OTUD6B CL E G H	51633	24281	OMIM:617452	Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies		4
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	PACS1 CL E G H	55690	30032	ORPHA:329224	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome		24
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	PACS1 CL E G H	55690	30032	OMIM:615009	Schuurs-Hoeijmakers syndrome		24
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	PACS2 CL E G H	23241	23794	OMIM:618067	Epileptic encephalopathy, early infantile, 66
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	PAK3 CL E G H	5063	8592	OMIM:300558	MENTAL RETARDATION, X-LINKED 30; MRX30		27
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	PAX3 CL E G H	5077	8617	ORPHA:894	Waardenburg syndrome type 1		59
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	PAX3 CL E G H	5077	8617	ORPHA:896	Waardenburg syndrome type 3		59
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	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:0011339	HP:0011339	Abnormality of upper lip vermillion	0	PCGF2 CL E G H	7703	12929	OMIM:618371	Turnpenny-Fry syndrome
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	PDE4D CL E G H	5144	8783	ORPHA:439822	PDE4D haploinsufficiency syndrome		113
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	PDGFRB CL E G H	5159	8804	OMIM:616592	Kosaki overgrowth syndrome		28
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	PGAP2 CL E G H	27315	17893	OMIM:614207	Hyperphosphatasia with mental retardation syndrome 3		8
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	PGAP2 CL E G H	27315	17893	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome		8
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	PGAP3 CL E G H	93210	23719	OMIM:615716	Hyperphosphatasia with mental retardation syndrome 4		20
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	PGAP3 CL E G H	93210	23719	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome		20
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	PHC1 CL E G H	1911	3182	ORPHA:2512	Autosomal recessive primary microcephaly		16
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	PIEZO2 CL E G H	63895	26270	OMIM:617146	Arthrogryposis, distal, with impaired proprioception and touch		77
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	PIGB CL E G H	9488	8959	OMIM:618580	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80; DEE80
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	PIGG CL E G H	54872	25985	ORPHA:488635	Early-onset epilepsy-intellectual disability-brain anomalies syndrome		7
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	PIGK CL E G H	10026	8965	OMIM:618879	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CEREBELLAR ATROPHY, WITH OR WITHOUT SEIZURES; NEDHCAS
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	PIGL CL E G H	9487	8966	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome		36
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	PIGN CL E G H	23556	8967	ORPHA:2059	Fryns syndrome		37
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome		37
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	PIGO CL E G H	84720	23215	OMIM:614749	Hyperphosphatasia with mental retardation syndrome 2		84
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	PIGO CL E G H	84720	23215	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome		84
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	PIGQ CL E G H	9091	14135	OMIM:618548	MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4; MCAHS4		3
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	PIGT CL E G H	51604	14938	ORPHA:369837	Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome		12
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	PIGU CL E G H	128869	15791	OMIM:618590	NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS; NEDBSS
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	PIGV CL E G H	55650	26031	OMIM:239300	Hyperphosphatasia with mental retardation		57
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	PIGV CL E G H	55650	26031	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome		57
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	PIGW CL E G H	284098	23213	OMIM:616025	Glycosylphosphatidylinositol biosynthesis defect 11		6
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	PIGW CL E G H	284098	23213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome		6
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	PIGY CL E G H	84992	28213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome		2
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	PITX2 CL E G H	5308	9005	OMIM:180500	Axenfeld-rieger syndrome, type 1		51
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	PLAA CL E G H	9373	9043	OMIM:617527	Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies		3
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	PLAA CL E G H	9373	9043	ORPHA:521426	PLAA-associated neurodevelopmental disorder		3
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	PLPBP CL E G H	11212	9457	OMIM:617290	Epilepsy, early-onset, vitamin b6-dependent		6
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia		150
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG		150
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	POGZ CL E G H	23126	18801	ORPHA:468678	White-Sutton syndrome		35
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome		138
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	PPM1D CL E G H	8493	9277	OMIM:617450	Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold		22
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2		9
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	PPP1R15B CL E G H	84919	14951	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome		2
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	PPP1R21 CL E G H	129285	30595	OMIM:619383	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	PPP2R1A CL E G H	5518	9302	OMIM:616362	Mental retardation, autosomal dominant 36		13
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome		10
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome		28
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	PREPL CL E G H	9581	30228	OMIM:616224	Myasthenic syndrome, congenital, 22		7
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	PRKACB CL E G H	5567	9381	OMIM:619143	CARDIOACROFACIAL DYSPLASIA 2; CAFD2		2
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	PRKAR1B CL E G H	5575	9390	OMIM:619680	MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME; MASNS		2
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	PRKDC CL E G H	5591	9413	OMIM:615966	Immunodeficiency 26 with or without neurologic abnormalities		42
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	PSMD12 CL E G H	5718	9557	ORPHA:529962	17q24.2 microdeletion syndrome		4
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	PTCH1 CL E G H	5727	9585	ORPHA:280200	Microform holoprosencephaly		665
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	PTRH2 CL E G H	51651	24265	ORPHA:456312	Infantile multisystem neurologic-endocrine-pancreatic disease		6
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	PTRH2 CL E G H	51651	24265	OMIM:616263	Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset		6
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome		19
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome		19
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	PUF60 CL E G H	22827	17042	OMIM:615583	Verheij syndrome		19
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	PURA CL E G H	5813	9701	OMIM:616158	Mental retardation, autosomal dominant 31		53
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	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:0011339	HP:0011339	Abnormality of upper lip vermillion	0	PURA CL E G H	5813	9701	ORPHA:314655	Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion		53
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	PYCR2 CL E G H	29920	30262	ORPHA:2512	Autosomal recessive primary microcephaly		11
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	QRICH1 CL E G H	54870	24713	OMIM:617982	VERVERI-BRADY SYNDROME; VERBRAS
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	RAB11B CL E G H	9230	9761	OMIM:617807	Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	RAD21 CL E G H	5885	9811	OMIM:614701	Cornelia de Lange syndrome 4		25
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	RAI1 CL E G H	10743	9834	ORPHA:477817	PMP22-RAI1 contiguous gene duplication syndrome		150
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	RAI1 CL E G H	10743	9834	OMIM:182290	Smith-Magenis syndrome		150
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	RAI1 CL E G H	10743	9834	ORPHA:819	Smith-Magenis syndrome		150
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	RALA CL E G H	5898	9839	OMIM:619311	HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME; HINCONS
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	RAPSN CL E G H	5913	9863	OMIM:618388	FETAL AKINESIA DEFORMATION SEQUENCE 2; FADS2		73
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	RHOBTB2 CL E G H	23221	18756	OMIM:618004	Epileptic encephalopathy, early infantile, 64		1
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	RNF135 CL E G H	84282	21158	ORPHA:137634	Overgrowth-macrocephaly-facial dysmorphism syndrome		11
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	RNU4ATAC CL E G H	100151683	34016	OMIM:616651	Roifman syndrome		15
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	RNU4ATAC CL E G H	100151683	34016	ORPHA:353298	Roifman syndrome		15
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome		120
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive		120
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35		10
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	RPL10 CL E G H	6134	10298	ORPHA:459070	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome		10
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	RPL10 CL E G H	6134	10298	ORPHA:435938	X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome		10
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	RPS7 CL E G H	6201	10440	OMIM:612563	Diamond-Blackfan anemia 8		20
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	RSPRY1 CL E G H	89970	29420	ORPHA:457395	Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome		2
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	RSPRY1 CL E G H	89970	29420	OMIM:616723	Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type		2
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	RTL1 CL E G H	388015	14665	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	RYR1 CL E G H	6261	10483	ORPHA:98905	Congenital multicore myopathy with external ophthalmoplegia		1200
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	SASS6 CL E G H	163786	25403	ORPHA:2512	Autosomal recessive primary microcephaly		4
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	SATB2 CL E G H	23314	21637	ORPHA:251028	SATB2-associated syndrome due to a chromosomal rearrangement	HP:0040283 - Occasional	34
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	SATB2 CL E G H	23314	21637	ORPHA:576283	SATB2-associated syndrome due to a pathogenic variant		34
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	SC5D CL E G H	6309	10547	OMIM:607330	LATHOSTEROLOSIS		80
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	SCN1A CL E G H	6323	10585	ORPHA:1942	Myoclonic-astatic epilepsy		1053
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	SEC23A CL E G H	10484	10701	OMIM:607812	Craniolenticulosutural dysplasia		2
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	SETBP1 CL E G H	26040	15573	OMIM:616078	Mental retardation, autosomal dominant 29		143
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	SETD1A CL E G H	9739	29010	OMIM:619056	NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND DYSMORPHIC FACIES; NEDSID		6
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	SETD5 CL E G H	55209	25566	ORPHA:404440	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency		43
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	SETD5 CL E G H	55209	25566	OMIM:615761	MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD23		43
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	SH3PXD2B CL E G H	285590	29242	OMIM:249420	Frank-ter Haar syndrome		134
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	SHH CL E G H	6469	10848	ORPHA:280200	Microform holoprosencephaly		67
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	SHMT2 CL E G H	6472	10852	OMIM:619121	NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	SIM1 CL E G H	6492	10882	ORPHA:398079	SIM1-related Prader-Willi-like syndrome		40
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome		9
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	SIX3 CL E G H	6496	10889	ORPHA:280200	Microform holoprosencephaly		32
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	SLC1A3 CL E G H	6507	10941	ORPHA:2131	Alternating hemiplegia of childhood		63
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	SLC25A46 CL E G H	91137	25198	OMIM:616505	Neuropathy, hereditary motor and sensory, type VIB		14
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	SLC26A2 CL E G H	1836	10994	ORPHA:56304	Atelosteogenesis type II		166
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	SLC2A1 CL E G H	6513	11005	ORPHA:1942	Myoclonic-astatic epilepsy		255
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	SLC35A2 CL E G H	7355	11022	OMIM:300896	Congenital disorder of glycosylation, type IIm		27
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	SLC6A1 CL E G H	6529	11042	ORPHA:1942	Myoclonic-astatic epilepsy		29
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	SLC9A7 CL E G H	84679	17123	OMIM:301024	Intellectual developmental disorder, X-linked 108
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	SMAD4 CL E G H	4089	6770	OMIM:139210	Myhre syndrome		504
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS		146
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome		146
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome		617
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome		87
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome		1
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	SMARCC2 CL E G H	6601	11105	OMIM:618362	Coffin-Siris syndrome 8		1
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome		47
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	SMARCE1 CL E G H	6605	11109	OMIM:616938	Coffin-Siris syndrome 5		47
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	SMC1A CL E G H	8243	11111	OMIM:300590	Cornelia de Lange syndrome 2		135
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	SMC1A CL E G H	8243	11111	OMIM:301044	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85		135
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	SMC3 CL E G H	9126	2468	OMIM:610759	Cornelia de Lange syndrome 3		91
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	SMPD4 CL E G H	55627	32949	OMIM:618622	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA		1
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	SNRPN CL E G H	6638	11164	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1		37
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation		37
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome		14
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	SPATA5L1 CL E G H	79029	28762	OMIM:619616	NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY; NEDHLS
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	SPECC1L CL E G H	23384	29022	OMIM:145420	Hypertelorism, Teebi type		6
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS		4
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	SRCAP CL E G H	10847	16974	OMIM:619595	DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES; DEHMBA		138
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome		138
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	SSR4 CL E G H	6748	11326	ORPHA:370927	SSR4-CDG	HP:0040281 - Very frequent	12
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	STAG2 CL E G H	10735	11355	OMIM:301022	Neurodevelopmental disorder, X-linked, with craniofacial abnormalities		1
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	STEEP1 CL E G H	63932	26239	OMIM:301013	MENTAL RETARDATION, X-LINKED 107; MRX107
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	STIL CL E G H	6491	10879	ORPHA:2512	Autosomal recessive primary microcephaly		99
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	STRADA CL E G H	92335	30172	OMIM:611087	Polyhydramnios, megalencephaly, and symptomatic epilepsy		6
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	STRADA CL E G H	92335	30172	ORPHA:500533	Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome		6
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	STT3A CL E G H	3703	6172	OMIM:619714	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT; CDG1WAD		21
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	SUFU CL E G H	51684	16466	ORPHA:280200	Microform holoprosencephaly		124
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	SUPT16H CL E G H	11198	11465	OMIM:619480	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	SYNGAP1 CL E G H	8831	11497	ORPHA:1942	Myoclonic-astatic epilepsy		108
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	SYT1 CL E G H	6857	11509	OMIM:618218	Baker-Gordon syndrome		1
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	SYT1 CL E G H	6857	11509	ORPHA:522077	Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome		1
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	TAF1 CL E G H	6872	11535	OMIM:300966	MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33		21
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	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:0011339	HP:0011339	Abnormality of upper lip vermillion	0	TAF13 CL E G H	6884	11546	ORPHA:2512	Autosomal recessive primary microcephaly		2
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	TAF6 CL E G H	6878	11540	OMIM:617126	Alazami-Yuan syndrome		5
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	TAF8 CL E G H	129685	17300	OMIM:619972
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	TASP1 CL E G H	55617	15859	OMIM:618950	SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	TBC1D24 CL E G H	57465	29203	OMIM:220500	Doors syndrome		271
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome		271
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	TBCK CL E G H	93627	28261	OMIM:616900	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3		13
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	TBCK CL E G H	93627	28261	ORPHA:488632	TBCK-related intellectual disability syndrome		13
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	TBL1XR1 CL E G H	79718	29529	ORPHA:487825	Pierpont syndrome		22
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	TCF20 CL E G H	6942	11631	OMIM:618430	Developmental delay with variable intellectual impairment and behavioral abnormalities		1
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	TCF3 CL E G H	6929	11633	OMIM:619824	AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B		2
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	TDGF1 CL E G H	6997	11701	ORPHA:280200	Microform holoprosencephaly		1
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5		85
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	TGIF1 CL E G H	7050	11776	ORPHA:280200	Microform holoprosencephaly		32
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	THOC6 CL E G H	79228	28369	ORPHA:363444	THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome		1
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	THUMPD1 CL E G H	55623	23807	OMIM:619989
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	TLK2 CL E G H	11011	11842	OMIM:618050	Mental retardation, autosomal dominant 57		1
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	TMEM147 CL E G H	10430	30414	OMIM:620075
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	TMEM237 CL E G H	65062	14432	OMIM:614424	Joubert syndrome 14		82
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	TMEM53 CL E G H	79639	26186	OMIM:619727	CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE; CTDI
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies		1
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	TNRC6B CL E G H	23112	29190	OMIM:619243	GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES; GDSBA
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	TOE1 CL E G H	114034	15954	ORPHA:284339	Pontocerebellar hypoplasia type 7		6
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	TOE1 CL E G H	114034	15954	OMIM:614969	Pontocerebellar hypoplasia, type 7		6
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	TRAPPC10 CL E G H	7109	11868	ORPHA:2512	Autosomal recessive primary microcephaly		1
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	TRAPPC14 CL E G H	55262	25604	ORPHA:2512	Autosomal recessive primary microcephaly
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	TRAPPC9 CL E G H	83696	30832	ORPHA:352530	Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome		158
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	TRIO CL E G H	7204	12303	OMIM:617061	Mental retardation, autosomal dominant 44		8
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	TRIP12 CL E G H	9320	12306	OMIM:617752	Mental retardation, autosomal dominant 49		2
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	TRMT10A CL E G H	93587	28403	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome		7
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	TRPS1 CL E G H	7227	12340	ORPHA:502	Trichorhinophalangeal syndrome type 2		171
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	TRPS1 CL E G H	7227	12340	OMIM:190350	Trichorhinophalangeal syndrome, type I		171
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	TRPS1 CL E G H	7227	12340	OMIM:190351	Trichorhinophalangeal syndrome, type III		171
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism		2
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	TTC5 CL E G H	91875	19274	OMIM:619244	NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM; NEDCAFD
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	TUBGCP2 CL E G H	10844	18599	OMIM:618737	PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES; PAMDDFS
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	TWIST2 CL E G H	117581	20670	OMIM:227260	FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE; FFDD3		7
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	UBE3B CL E G H	89910	13478	OMIM:244450	Kaufman oculocerebrofacial syndrome		13
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	UNC80 CL E G H	285175	26582	OMIM:616801	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2		23
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	UNC80 CL E G H	285175	26582	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome		23
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	USP9X CL E G H	8239	12632	ORPHA:480880	X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability		27
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	VPS35L CL E G H	57020	24641	OMIM:619135	RITSCHER-SCHINZEL SYNDROME 3; RTSC3
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	VPS51 CL E G H	738	1172	OMIM:618606	PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	WAC CL E G H	51322	17327	OMIM:616708	Desanto-Shinawi syndrome		20
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	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:0011339	HP:0011339	Abnormality of upper lip vermillion	0	WAC CL E G H	51322	17327	ORPHA:466950	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation		20
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	WARS2 CL E G H	10352	12730	ORPHA:572798	WARS2-related combined oxidative phosphorylation defect		2
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	WASHC4 CL E G H	23325	29174	OMIM:615817	Mental retardation, autosomal recessive 43		25
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	WDR19 CL E G H	57728	18340	OMIM:614376	Short-Rib thoracic dysplasia 5 with or without polydactyly		95
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	WDR26 CL E G H	80232	21208	ORPHA:513456	Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome		8
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	WDR26 CL E G H	80232	21208	OMIM:617616	Skraban-Deardorff syndrome		8
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	WDR4 CL E G H	10785	12756	OMIM:618346	Microcephaly, growth deficiency, seizures, and brain malformations
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	WDR62 CL E G H	284403	24502	ORPHA:2512	Autosomal recessive primary microcephaly		224
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	WNT5A CL E G H	7474	12784	OMIM:180700	Robinow syndrome, autosomal dominant 1		98
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome	HP:0040282 - Frequent	7
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	ZBTB18 CL E G H	10472	13030	OMIM:612337	Mental retardation, autosomal dominant 22		16
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	ZC4H2 CL E G H	55906	24931	OMIM:314580	Wieacker-Wolff syndrome		19
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	ZC4H2 CL E G H	55906	24931	OMIM:301041	WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR		19
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	ZIC2 CL E G H	7546	12873	ORPHA:280200	Microform holoprosencephaly		34
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	ZMIZ1 CL E G H	57178	16493	OMIM:618659	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	ZNF292 CL E G H	23036	18410	OMIM:619188	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64; MRD64		3
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	ZNF407 CL E G H	55628	19904	OMIM:619557	SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES; SIMHA		68
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	ZNF462 CL E G H	58499	21684	OMIM:618619	WEISS-KRUSZKA SYNDROME; WSKA		4
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	ZNF526 CL E G H	116115	29415	OMIM:619877			24
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	ZNHIT3 CL E G H	9326	12309	OMIM:260565	Peho syndrome		1
HP:0011339	HP:0011339	Abnormality of upper lip vermillion	0	ZSWIM6 CL E G H	57688	29316	OMIM:603671	Acromelic frontonasal dysostosis		5
HP:0011339	HP:0000219	Thin upper lip vermilion	1	AARS1 CL E G H	16	20	OMIM:619691	TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE; TTD8
HP:0011339	HP:0000215	Thick upper lip vermilion	1	ABCC9 CL E G H	10060	60	OMIM:239850	Hypertrichotic osteochondrodysplasia	.	254
HP:0011339	HP:0000219	Thin upper lip vermilion	1	ABCC9 CL E G H	10060	60	OMIM:619719	INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS		254
HP:0011339	HP:0000219	Thin upper lip vermilion	1	ACTB CL E G H	60	132	OMIM:243310	Baraitser-Winter syndrome 1		72
HP:0011339	HP:0000219	Thin upper lip vermilion	1	ACTG1 CL E G H	71	144	OMIM:614583	Baraitser-Winter syndrome 2	.	123
HP:0011339	HP:0010804	Tented upper lip vermilion	1	ADAMTSL1 CL E G H	92949	14632	ORPHA:521445	Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome	HP:0040282 - Frequent
HP:0011339	HP:0000219	Thin upper lip vermilion	1	ADARB1 CL E G H	104	226	OMIM:618862	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES; NEDHYMS		1
HP:0011339	HP:0000219	Thin upper lip vermilion	1	ADGRG6 CL E G H	57211	13841	OMIM:616503	Lethal congenital contracture syndrome 9	.	5
HP:0011339	HP:0000219	Thin upper lip vermilion	1	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome	HP:0040283 - Occasional	47
HP:0011339	HP:0000219	Thin upper lip vermilion	1	ADNP CL E G H	23394	15766	OMIM:615873	Helsmoortel-van der Aa syndrome		47
HP:0011339	HP:0000219	Thin upper lip vermilion	1	ADSL CL E G H	158	291	OMIM:103050	Adenylosuccinase deficiency		118
HP:0011339	HP:0000219	Thin upper lip vermilion	1	ADSL CL E G H	158	291	ORPHA:46	Adenylosuccinate lyase deficiency	HP:0040281 - Very frequent	118
HP:0011339	HP:0000219	Thin upper lip vermilion	1	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS		1
HP:0011339	HP:0000219	Thin upper lip vermilion	1	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:0011339	HP:0000219	Thin upper lip vermilion	1	AGL CL E G H	178	321	OMIM:232400	Glycogen storage disease III	.	216
HP:0011339	HP:0000219	Thin upper lip vermilion	1	AGO2 CL E G H	27161	3263	OMIM:619149	LESSEL-KREIENKAMP SYNDROME; LESKRES
HP:0011339	HP:0010804	Tented upper lip vermilion	1	ALDH6A1 CL E G H	4329	7179	OMIM:614105	Methylmalonate semialdehyde dehydrogenase deficiency	.	35
HP:0011339	HP:0000219	Thin upper lip vermilion	1	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG	HP:0040283 - Occasional	68
HP:0011339	HP:0000219	Thin upper lip vermilion	1	ALG12 CL E G H	79087	19358	OMIM:607143	Congenital disorder of glycosylation, type Ig	.	68
HP:0011339	HP:0000219	Thin upper lip vermilion	1	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG	HP:0040283 - Occasional	93
HP:0011339	HP:0000219	Thin upper lip vermilion	1	AMMECR1 CL E G H	9949	467	OMIM:300990	Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis		2
HP:0011339	HP:0000219	Thin upper lip vermilion	1	ANKLE2 CL E G H	23141	29101	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent	3
HP:0011339	HP:0010804	Tented upper lip vermilion	1	ANKRD11 CL E G H	29123	21316	OMIM:148050	Kbg syndrome		102
HP:0011339	HP:0000219	Thin upper lip vermilion	1	ANKRD11 CL E G H	29123	21316	ORPHA:2332	KBG syndrome	HP:0040282 - Frequent	102
HP:0011339	HP:0000219	Thin upper lip vermilion	1	ANKRD17 CL E G H	26057	23575	OMIM:619504	CHOPRA-AMIEL-GORDON SYNDROME; CAGS		2
HP:0011339	HP:0000219	Thin upper lip vermilion	1	AP2M1 CL E G H	1173	564	OMIM:618587	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 60, WITH SEIZURES; MRD60
HP:0011339	HP:0000219	Thin upper lip vermilion	1	AP2M1 CL E G H	1173	564	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040284 - Very rare
HP:0011339	HP:0000219	Thin upper lip vermilion	1	AP3B1 CL E G H	8546	566	OMIM:608233	Hermansky-Pudlak syndrome 2		83
HP:0011339	HP:0010803	Everted upper lip vermilion	1	AP4B1 CL E G H	10717	572	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia	HP:0040283 - Occasional	49
HP:0011339	HP:0010803	Everted upper lip vermilion	1	AP4E1 CL E G H	23431	573	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia	HP:0040283 - Occasional	48
HP:0011339	HP:0010803	Everted upper lip vermilion	1	AP4M1 CL E G H	9179	574	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia	HP:0040283 - Occasional	41
HP:0011339	HP:0010803	Everted upper lip vermilion	1	AP4S1 CL E G H	11154	575	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia	HP:0040283 - Occasional	18
HP:0011339	HP:0000215	Thick upper lip vermilion	1	APC CL E G H	324	583	ORPHA:261584	Familial adenomatous polyposis due to 5q22.2 microdeletion	HP:0040282 - Frequent	3179
HP:0011339	HP:0000219	Thin upper lip vermilion	1	ARHGEF2 CL E G H	9181	682	OMIM:617523	Neurodevelopmental disorder with midbrain and hindbrain malformations	.	1
HP:0011339	HP:0000219	Thin upper lip vermilion	1	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent	88
HP:0011339	HP:0000219	Thin upper lip vermilion	1	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent	219
HP:0011339	HP:0000219	Thin upper lip vermilion	1	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1		219
HP:0011339	HP:0000219	Thin upper lip vermilion	1	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent	25
HP:0011339	HP:0000219	Thin upper lip vermilion	1	ARX CL E G H	170302	18060	OMIM:300215	Lissencephaly, X-linked, 2		166
HP:0011339	HP:0000219	Thin upper lip vermilion	1	ASPM CL E G H	259266	19048	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent	512
HP:0011339	HP:0000219	Thin upper lip vermilion	1	ASXL2 CL E G H	55252	23805	OMIM:617190	Shashi-Pena syndrome		7
HP:0011339	HP:0000219	Thin upper lip vermilion	1	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS		49
HP:0011339	HP:0000219	Thin upper lip vermilion	1	ATIC CL E G H	471	794	ORPHA:250977	AICA-ribosiduria	HP:0040281 - Very frequent	4
HP:0011339	HP:0000219	Thin upper lip vermilion	1	ATIC CL E G H	471	794	OMIM:608688	Aicar transformylase/imp cyclohydrolase deficiency		4
HP:0011339	HP:0000219	Thin upper lip vermilion	1	ATN1 CL E G H	1822	3033	OMIM:618494	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies	.	16
HP:0011339	HP:0002263	Exaggerated cupid's bow	1	ATP1A2 CL E G H	477	800	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040283 - Occasional	239
HP:0011339	HP:0002263	Exaggerated cupid's bow	1	ATP1A3 CL E G H	478	801	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040283 - Occasional	150
HP:0011339	HP:0000219	Thin upper lip vermilion	1	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome	HP:0040282 - Frequent	5
HP:0011339	HP:0010806	U-Shaped upper lip vermilion	1	ATRX CL E G H	546	886	ORPHA:847	Alpha-thalassemia-X-linked intellectual disability syndrome	HP:0040282 - Frequent	169
HP:0011339	HP:0010804	Tented upper lip vermilion	1	ATRX CL E G H	546	886	ORPHA:847	Alpha-thalassemia-X-linked intellectual disability syndrome	HP:0040282 - Frequent	169
HP:0011339	HP:0010806	U-Shaped upper lip vermilion	1	ATRX CL E G H	546	886	OMIM:301040	Alpha-Thalassemia/mental retardation syndrome, X-linked	.	169
HP:0011339	HP:0000219	Thin upper lip vermilion	1	ATRX CL E G H	546	886	OMIM:309580	Mental retardation-hypotonic facies syndrome, X-linked, 1	.	169
HP:0011339	HP:0010806	U-Shaped upper lip vermilion	1	ATRX CL E G H	546	886	OMIM:309580	Mental retardation-hypotonic facies syndrome, X-linked, 1	.	169
HP:0011339	HP:0010804	Tented upper lip vermilion	1	ATRX CL E G H	546	886	OMIM:309580	Mental retardation-hypotonic facies syndrome, X-linked, 1	.	169
HP:0011339	HP:0000219	Thin upper lip vermilion	1	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome	HP:0040281 - Very frequent	36
HP:0011339	HP:0002263	Exaggerated cupid's bow	1	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome	HP:0040281 - Very frequent	36
HP:0011339	HP:0000219	Thin upper lip vermilion	1	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome	.	36
HP:0011339	HP:0002263	Exaggerated cupid's bow	1	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome	.	36
HP:0011339	HP:0000219	Thin upper lip vermilion	1	B4GALT1 CL E G H	2683	924	ORPHA:79332	B4GALT1-CDG		85
HP:0011339	HP:0010804	Tented upper lip vermilion	1	BAP1 CL E G H	8314	950	OMIM:619762	KURY-ISIDOR SYNDROME; KURIS		184
HP:0011339	HP:0000219	Thin upper lip vermilion	1	BCL11A CL E G H	53335	13221	OMIM:617101	Intellectual developmental disorder with persistence of fetal hemoglobin	.	11
HP:0011339	HP:0000219	Thin upper lip vermilion	1	BCL11B CL E G H	64919	13222	OMIM:618092	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES	.	3
HP:0011339	HP:0000219	Thin upper lip vermilion	1	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040282 - Frequent	5
HP:0011339	HP:0000219	Thin upper lip vermilion	1	BMP2 CL E G H	650	1069	OMIM:617877	Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies	.	13
HP:0011339	HP:0000219	Thin upper lip vermilion	1	BPTF CL E G H	2186	3581	ORPHA:529962	17q24.2 microdeletion syndrome	HP:0040282 - Frequent	2
HP:0011339	HP:0000219	Thin upper lip vermilion	1	BPTF CL E G H	2186	3581	OMIM:617755	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES; NEDDFL		2
HP:0011339	HP:0010804	Tented upper lip vermilion	1	BRAT1 CL E G H	221927	21701	OMIM:618056	Neurodevelopmental disorder with cerebellar atrophy and with or without seizures	.	20
HP:0011339	HP:0000215	Thick upper lip vermilion	1	BRCA1 CL E G H	672	1100	OMIM:617883	Fanconi anemia, complementation group S	.	5769
HP:0011339	HP:0002263	Exaggerated cupid's bow	1	CACNA1A CL E G H	773	1388	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040283 - Occasional	449
HP:0011339	HP:0000219	Thin upper lip vermilion	1	CACNA1C CL E G H	775	1390	OMIM:620029			572
HP:0011339	HP:0000219	Thin upper lip vermilion	1	CACNA1C CL E G H	775	1390	OMIM:601005	Timothy syndrome	.	572
HP:0011339	HP:0000219	Thin upper lip vermilion	1	CCNQ CL E G H	92002	28434	ORPHA:140952	Syndactyly-telecanthus-anogenital and renal malformations syndrome	HP:0040282 - Frequent	7
HP:0011339	HP:0000219	Thin upper lip vermilion	1	CCNQ CL E G H	92002	28434	OMIM:300707	Toe syndactyly, telecanthus, and anogenital and renal malformations	.	7
HP:0011339	HP:0010804	Tented upper lip vermilion	1	CDC42 CL E G H	998	1736	ORPHA:487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome	HP:0040283 - Occasional	6
HP:0011339	HP:0000219	Thin upper lip vermilion	1	CDC42 CL E G H	998	1736	ORPHA:487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome	HP:0040283 - Occasional	6
HP:0011339	HP:0000219	Thin upper lip vermilion	1	CDC42 CL E G H	998	1736	OMIM:616737	Takenouchi-Kosaki syndrome		6
HP:0011339	HP:0000219	Thin upper lip vermilion	1	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0011339	HP:0000219	Thin upper lip vermilion	1	CDH11 CL E G H	1009	1750	OMIM:211380	Elsahy-Waters syndrome	.	2
HP:0011339	HP:0000219	Thin upper lip vermilion	1	CDH11 CL E G H	1009	1750	OMIM:619736	TEEBI HYPERTELORISM SYNDROME 2; TBHS2		2
HP:0011339	HP:0000219	Thin upper lip vermilion	1	CDH2 CL E G H	1000	1759	OMIM:618929	AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
HP:0011339	HP:0000219	Thin upper lip vermilion	1	CDK10 CL E G H	8558	1770	OMIM:617694	Al Kaissi syndrome	.	2
HP:0011339	HP:0000219	Thin upper lip vermilion	1	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder	.	8
HP:0011339	HP:0000215	Thick upper lip vermilion	1	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder		8
HP:0011339	HP:0010806	U-Shaped upper lip vermilion	1	CDK19 CL E G H	23097	19338	OMIM:618916	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 87; DEE87
HP:0011339	HP:0000219	Thin upper lip vermilion	1	CDK5RAP2 CL E G H	55755	18672	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent	181
HP:0011339	HP:0000219	Thin upper lip vermilion	1	CDK6 CL E G H	1021	1777	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent	6
HP:0011339	HP:0010804	Tented upper lip vermilion	1	CDON CL E G H	50937	17104	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent	200
HP:0011339	HP:0000219	Thin upper lip vermilion	1	CENPJ CL E G H	55835	17272	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent	161
HP:0011339	HP:0000219	Thin upper lip vermilion	1	CEP135 CL E G H	9662	29086	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent	38
HP:0011339	HP:0000219	Thin upper lip vermilion	1	CEP152 CL E G H	22995	29298	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent	146
HP:0011339	HP:0000219	Thin upper lip vermilion	1	CEP63 CL E G H	80254	25815	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent	31
HP:0011339	HP:0000219	Thin upper lip vermilion	1	CHAMP1 CL E G H	283489	20311	OMIM:616579	Mental retardation, autosomal dominant 40		16
HP:0011339	HP:0010804	Tented upper lip vermilion	1	CHAMP1 CL E G H	283489	20311	OMIM:616579	Mental retardation, autosomal dominant 40	.	16
HP:0011339	HP:0000219	Thin upper lip vermilion	1	CHD2 CL E G H	1106	1917	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040284 - Very rare	227
HP:0011339	HP:0010804	Tented upper lip vermilion	1	CHMP1A CL E G H	5119	8740	OMIM:614961	Pontocerebellar hypoplasia, type 8		19
HP:0011339	HP:0000219	Thin upper lip vermilion	1	CHST14 CL E G H	113189	24464	OMIM:601776	Ehlers-Danlos syndrome, musculocontractural type 1	.	27
HP:0011339	HP:0000219	Thin upper lip vermilion	1	CHST14 CL E G H	113189	24464	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome	HP:0040281 - Very frequent	27
HP:0011339	HP:0000215	Thick upper lip vermilion	1	CILK1 CL E G H	22858	21219	OMIM:612651	ENDOCRINE-CEREBROOSTEODYSPLASIA
HP:0011339	HP:0000219	Thin upper lip vermilion	1	CIT CL E G H	11113	1985	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent	15
HP:0011339	HP:0002263	Exaggerated cupid's bow	1	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA		2
HP:0011339	HP:0010804	Tented upper lip vermilion	1	CLCN3 CL E G H	1182	2021	OMIM:619517	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ABNORMALITIES; NEDSBA		2
HP:0011339	HP:0000219	Thin upper lip vermilion	1	CLCN3 CL E G H	1182	2021	OMIM:619517	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ABNORMALITIES; NEDSBA		2
HP:0011339	HP:0000219	Thin upper lip vermilion	1	CLCN6 CL E G H	1185	2024	OMIM:619173	NEURODEGENERATION, CHILDHOOD-ONSET, WITH HYPOTONIA, RESPIRATORY INSUFFICIENCY, AND BRAIN IMAGING ABNORMALITIES; CONRIBA
HP:0011339	HP:0000219	Thin upper lip vermilion	1	CLP1 CL E G H	10978	16999	OMIM:615803	Pontocerebellar hypoplasia, type 10	.	7
HP:0011339	HP:0000219	Thin upper lip vermilion	1	CLTC CL E G H	1213	2092	OMIM:617854	Mental retardation, autosomal dominant 56	.	1
HP:0011339	HP:0000219	Thin upper lip vermilion	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:0011339	HP:0000219	Thin upper lip vermilion	1	COG1 CL E G H	9382	6545	ORPHA:263508	COG1-CDG	HP:0040282 - Frequent	52
HP:0011339	HP:0000219	Thin upper lip vermilion	1	COG1 CL E G H	9382	6545	OMIM:611209	Congenital disorder of glycosylation, type IIg	.	52
HP:0011339	HP:0000215	Thick upper lip vermilion	1	COL11A1 CL E G H	1301	2186	ORPHA:560	Marshall syndrome	HP:0040281 - Very frequent	215
HP:0011339	HP:0000215	Thick upper lip vermilion	1	COL11A1 CL E G H	1301	2186	OMIM:154780	Marshall syndrome	.	215
HP:0011339	HP:0000219	Thin upper lip vermilion	1	COPB2 CL E G H	9276	2232	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent
HP:0011339	HP:0000219	Thin upper lip vermilion	1	CPLX1 CL E G H	10815	2309	OMIM:617976	Epileptic encephalopathy, early infantile, 63	.	1
HP:0011339	HP:0000219	Thin upper lip vermilion	1	CREBBP CL E G H	1387	2348	OMIM:618332	MENKE-HENNEKAM SYNDROME 1; MKHK1		291
HP:0011339	HP:0010803	Everted upper lip vermilion	1	CREBBP CL E G H	1387	2348	OMIM:618332	MENKE-HENNEKAM SYNDROME 1; MKHK1		291
HP:0011339	HP:0000219	Thin upper lip vermilion	1	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1		291
HP:0011339	HP:0000219	Thin upper lip vermilion	1	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040282 - Frequent
HP:0011339	HP:0010804	Tented upper lip vermilion	1	CSF1R CL E G H	1436	2433	OMIM:618476	Brain abnormalities, neurodegeneration, and dysosteosclerosis		149
HP:0011339	HP:0000219	Thin upper lip vermilion	1	CSNK2A1 CL E G H	1457	2457	OMIM:617062	Okur-Chung neurodevelopmental syndrome	.	12
HP:0011339	HP:0000219	Thin upper lip vermilion	1	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder	HP:0040282 - Frequent	20
HP:0011339	HP:0000219	Thin upper lip vermilion	1	CTNNB1 CL E G H	1499	2514	OMIM:615075	Neurodevelopmental disorder with spastic diplegia and visual defects	.	88
HP:0011339	HP:0000219	Thin upper lip vermilion	1	CTNNB1 CL E G H	1499	2514	ORPHA:404473	Severe intellectual disability-progressive spastic diplegia syndrome	HP:0040283 - Occasional	88
HP:0011339	HP:0010804	Tented upper lip vermilion	1	CYFIP2 CL E G H	26999	13760	OMIM:618008	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65; EIEE65		1
HP:0011339	HP:0010804	Tented upper lip vermilion	1	DCHS1 CL E G H	8642	13681	OMIM:601390	Van maldergem syndrome 1	.	27
HP:0011339	HP:0000219	Thin upper lip vermilion	1	DCPS CL E G H	28960	29812	OMIM:616459	Al-Raqad syndrome	.	5
HP:0011339	HP:0000219	Thin upper lip vermilion	1	DDB1 CL E G H	1642	2717	OMIM:619426	WHITE-KERNOHAN SYNDROME; WHIKERS
HP:0011339	HP:0010804	Tented upper lip vermilion	1	DDB1 CL E G H	1642	2717	OMIM:619426	WHITE-KERNOHAN SYNDROME; WHIKERS
HP:0011339	HP:0010800	Absent cupid's bow	1	DDX59 CL E G H	83479	25360	ORPHA:2919	Orofaciodigital syndrome type 5	HP:0040283 - Occasional	2
HP:0011339	HP:0000219	Thin upper lip vermilion	1	DDX59 CL E G H	83479	25360	OMIM:174300	Orofaciodigital syndrome V		2
HP:0011339	HP:0010804	Tented upper lip vermilion	1	DEAF1 CL E G H	10522	14677	OMIM:615828	Mental retardation, autosomal dominant 24	.	33
HP:0011339	HP:0010804	Tented upper lip vermilion	1	DEAF1 CL E G H	10522	14677	ORPHA:819	Smith-Magenis syndrome	HP:0040281 - Very frequent	33
HP:0011339	HP:0000215	Thick upper lip vermilion	1	DENND5A CL E G H	23258	19344	OMIM:617281	Epileptic encephalopathy, early infantile, 49	.	6
HP:0011339	HP:0000219	Thin upper lip vermilion	1	DHPS CL E G H	1725	2869	OMIM:618480	Neurodevelopmental disorder with seizures and speech and walking impairment
HP:0011339	HP:0010804	Tented upper lip vermilion	1	DIS3L2 CL E G H	129563	28648	OMIM:267000	Perlman syndrome	.	164
HP:0011339	HP:0010804	Tented upper lip vermilion	1	DISP1 CL E G H	84976	19711	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent	22
HP:0011339	HP:0002263	Exaggerated cupid's bow	1	DLK1 CL E G H	8788	2907	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion	HP:0040283 - Occasional	1
HP:0011339	HP:0010804	Tented upper lip vermilion	1	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:0011339	HP:0010804	Tented upper lip vermilion	1	DLL1 CL E G H	28514	2908	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent	3
HP:0011339	HP:0010804	Tented upper lip vermilion	1	DMPK CL E G H	1760	2933	ORPHA:589821	Congenital-onset Steinert myotonic dystrophy		152
HP:0011339	HP:0010803	Everted upper lip vermilion	1	DNMT3A CL E G H	1788	2978	OMIM:615879	Tatton-Brown-Rahman syndrome		44
HP:0011339	HP:0002263	Exaggerated cupid's bow	1	DNMT3A CL E G H	1788	2978	OMIM:615879	Tatton-Brown-Rahman syndrome		44
HP:0011339	HP:0000219	Thin upper lip vermilion	1	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent
HP:0011339	HP:0000219	Thin upper lip vermilion	1	DPF2 CL E G H	5977	9964	OMIM:618027	Coffin-Siris syndrome 7	.
HP:0011339	HP:0010806	U-Shaped upper lip vermilion	1	DPM1 CL E G H	8813	3005	ORPHA:79322	DPM1-CDG	HP:0040283 - Occasional	27
HP:0011339	HP:0010804	Tented upper lip vermilion	1	DPM1 CL E G H	8813	3005	ORPHA:79322	DPM1-CDG	HP:0040283 - Occasional	27
HP:0011339	HP:0000219	Thin upper lip vermilion	1	DPM2 CL E G H	8818	3006	OMIM:615042	Congenital disorder of glycosylation, type Iu	.	26
HP:0011339	HP:0000219	Thin upper lip vermilion	1	DPM2 CL E G H	8818	3006	ORPHA:329178	Congenital muscular dystrophy with intellectual disability and severe epilepsy	HP:0040283 - Occasional	26
HP:0011339	HP:0000219	Thin upper lip vermilion	1	DSE CL E G H	29940	21144	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome	HP:0040281 - Very frequent	13
HP:0011339	HP:0000219	Thin upper lip vermilion	1	DVL1 CL E G H	1855	3084	OMIM:180700	Robinow syndrome, autosomal dominant 1		14
HP:0011339	HP:0000219	Thin upper lip vermilion	1	DVL1 CL E G H	1855	3084	OMIM:616331	Robinow syndrome, autosomal dominant 2	.	14
HP:0011339	HP:0000219	Thin upper lip vermilion	1	DYRK1A CL E G H	1859	3091	OMIM:614104	Mental retardation, autosomal dominant 7		134
HP:0011339	HP:0000219	Thin upper lip vermilion	1	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS		25
HP:0011339	HP:0000215	Thick upper lip vermilion	1	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS		25
HP:0011339	HP:0010803	Everted upper lip vermilion	1	EDA CL E G H	1896	3157	OMIM:305100	Ectodermal dysplasia 1, hypohidrotic, X-linked	.	115
HP:0011339	HP:0010803	Everted upper lip vermilion	1	EDA CL E G H	1896	3157	ORPHA:181	X-linked hypohidrotic ectodermal dysplasia	HP:0040281 - Very frequent	115
HP:0011339	HP:0010803	Everted upper lip vermilion	1	EDA2R CL E G H	60401	17756	ORPHA:181	X-linked hypohidrotic ectodermal dysplasia	HP:0040281 - Very frequent	11
HP:0011339	HP:0010803	Everted upper lip vermilion	1	EDAR CL E G H	10913	2895	OMIM:224900	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive	.	86
HP:0011339	HP:0010803	Everted upper lip vermilion	1	EDARADD CL E G H	128178	14341	OMIM:224900	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive	.	56
HP:0011339	HP:0000219	Thin upper lip vermilion	1	EDEM3 CL E G H	80267	16787	OMIM:619493	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v; CDG2V
HP:0011339	HP:0010804	Tented upper lip vermilion	1	EEF1A2 CL E G H	1917	3192	OMIM:616393	Mental retardation, autosomal dominant 38	.	60
HP:0011339	HP:0010806	U-Shaped upper lip vermilion	1	EHMT1 CL E G H	79813	24650	OMIM:610253	Kleefstra syndrome		223
HP:0011339	HP:0000219	Thin upper lip vermilion	1	EIF5A CL E G H	1984	3300	OMIM:619376	FAUNDES-BANKA SYNDROME; FABAS
HP:0011339	HP:0000219	Thin upper lip vermilion	1	EP300 CL E G H	2033	3373	OMIM:618333	MENKE-HENNEKAM SYNDROME 2; MKHK2		250
HP:0011339	HP:0000219	Thin upper lip vermilion	1	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1		250
HP:0011339	HP:0010803	Everted upper lip vermilion	1	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome		40
HP:0011339	HP:0000219	Thin upper lip vermilion	1	EXOC2 CL E G H	55770	24968	OMIM:619306	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA; NEDFACH		1
HP:0011339	HP:0002263	Exaggerated cupid's bow	1	EXOC2 CL E G H	55770	24968	OMIM:619306	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA; NEDFACH		1
HP:0011339	HP:0000219	Thin upper lip vermilion	1	EXOSC2 CL E G H	23404	17097	OMIM:617763	Short stature, hearing loss, retinitis pigmentosa, and distinctive facies	.
HP:0011339	HP:0000219	Thin upper lip vermilion	1	EXT1 CL E G H	2131	3512	ORPHA:502	Trichorhinophalangeal syndrome type 2	HP:0040281 - Very frequent	96
HP:0011339	HP:0000219	Thin upper lip vermilion	1	FAR1 CL E G H	84188	26222	ORPHA:438178	Fatty acyl-CoA reductase 1 deficiency	HP:0040283 - Occasional	7
HP:0011339	HP:0000219	Thin upper lip vermilion	1	FAR1 CL E G H	84188	26222	OMIM:616154	PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER; PFCRD		7
HP:0011339	HP:0010804	Tented upper lip vermilion	1	FAT4 CL E G H	79633	23109	OMIM:615546	Van maldergem syndrome 2	.	114
HP:0011339	HP:0000219	Thin upper lip vermilion	1	FBN1 CL E G H	2200	3603	OMIM:614185	GELEOPHYSIC DYSPLASIA 2; GPHYSD2		1361
HP:0011339	HP:0010804	Tented upper lip vermilion	1	FBXO28 CL E G H	23219	29046	OMIM:619777	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0011339	HP:0010804	Tented upper lip vermilion	1	FGF8 CL E G H	2253	3686	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent	17
HP:0011339	HP:0010804	Tented upper lip vermilion	1	FGFR1 CL E G H	2260	3688	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent	172
HP:0011339	HP:0000219	Thin upper lip vermilion	1	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome		111
HP:0011339	HP:0010804	Tented upper lip vermilion	1	FLII CL E G H	2314	3750	ORPHA:819	Smith-Magenis syndrome	HP:0040281 - Very frequent
HP:0011339	HP:0010804	Tented upper lip vermilion	1	FOXG1 CL E G H	2290	3811	ORPHA:261144	FOXG1 syndrome due to 14q12 microdeletion	HP:0040281 - Very frequent	177
HP:0011339	HP:0000219	Thin upper lip vermilion	1	FOXG1 CL E G H	2290	3811	OMIM:613454	Rett syndrome, congenital variant		177
HP:0011339	HP:0010804	Tented upper lip vermilion	1	FOXH1 CL E G H	8928	3814	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent	48
HP:0011339	HP:0000219	Thin upper lip vermilion	1	GAD1 CL E G H	2571	4092	OMIM:619124	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE89		44
HP:0011339	HP:0010804	Tented upper lip vermilion	1	GALNT2 CL E G H	2590	4124	OMIM:618885	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T
HP:0011339	HP:0010804	Tented upper lip vermilion	1	GAS1 CL E G H	2619	4165	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent	2
HP:0011339	HP:0000219	Thin upper lip vermilion	1	GATAD2B CL E G H	57459	30778	OMIM:615074	Mental retardation, autosomal dominant 18	.	33
HP:0011339	HP:0000219	Thin upper lip vermilion	1	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:0011339	HP:0010803	Everted upper lip vermilion	1	GBA1 CL E G H	2629	4177	OMIM:608013	Gaucher disease, perinatal lethal	.
HP:0011339	HP:0000219	Thin upper lip vermilion	1	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		39
HP:0011339	HP:0000219	Thin upper lip vermilion	1	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		34
HP:0011339	HP:0010804	Tented upper lip vermilion	1	GLI2 CL E G H	2736	4318	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent	173
HP:0011339	HP:0000219	Thin upper lip vermilion	1	GLIS3 CL E G H	169792	28510	OMIM:610199	Diabetes mellitus, neonatal, with congenital hypothyroidism	.	143
HP:0011339	HP:0010804	Tented upper lip vermilion	1	GNAI1 CL E G H	2770	4384	OMIM:619854
HP:0011339	HP:0000219	Thin upper lip vermilion	1	GNAI1 CL E G H	2770	4384	OMIM:619854
HP:0011339	HP:0000219	Thin upper lip vermilion	1	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0011339	HP:0000219	Thin upper lip vermilion	1	GNE CL E G H	10020	23657	OMIM:269921	SIALURIA		173
HP:0011339	HP:0000219	Thin upper lip vermilion	1	GNE CL E G H	10020	23657	ORPHA:3166	Sialuria	HP:0040281 - Very frequent	173
HP:0011339	HP:0002263	Exaggerated cupid's bow	1	GPC4 CL E G H	2239	4452	ORPHA:2662	Keipert syndrome	HP:0040282 - Frequent
HP:0011339	HP:0002263	Exaggerated cupid's bow	1	GPC4 CL E G H	2239	4452	OMIM:301026	Keipert syndrome	.
HP:0011339	HP:0000215	Thick upper lip vermilion	1	GPC4 CL E G H	2239	4452	OMIM:301026	Keipert syndrome	.
HP:0011339	HP:0010804	Tented upper lip vermilion	1	GPC4 CL E G H	2239	4452	ORPHA:2662	Keipert syndrome	HP:0040282 - Frequent
HP:0011339	HP:0002263	Exaggerated cupid's bow	1	H3-3A CL E G H	3020	4764	OMIM:619720	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0011339	HP:0010804	Tented upper lip vermilion	1	H3-3A CL E G H	3020	4764	OMIM:619720	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0011339	HP:0000219	Thin upper lip vermilion	1	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0011339	HP:0010803	Everted upper lip vermilion	1	H4C9 CL E G H	8294	4793	OMIM:619951
HP:0011339	HP:0000219	Thin upper lip vermilion	1	HDAC8 CL E G H	55869	13315	ORPHA:3459	Wilson-Turner syndrome	HP:0040281 - Very frequent	37
HP:0011339	HP:0000219	Thin upper lip vermilion	1	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome		38
HP:0011339	HP:0000219	Thin upper lip vermilion	1	HIVEP2 CL E G H	3097	4921	OMIM:616977	Mental retardation, autosomal dominant 43		13
HP:0011339	HP:0000219	Thin upper lip vermilion	1	HK1 CL E G H	3098	4922	OMIM:618547	NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES; NEDVIBA		11
HP:0011339	HP:0002263	Exaggerated cupid's bow	1	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:0011339	HP:0002263	Exaggerated cupid's bow	1	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:0011339	HP:0002263	Exaggerated cupid's bow	1	HNRNPU CL E G H	3192	5048	ORPHA:238769	1q44 microdeletion syndrome	HP:0040281 - Very frequent	39
HP:0011339	HP:0010804	Tented upper lip vermilion	1	HOXB1 CL E G H	3211	5111	OMIM:614744	Facial paresis, hereditary congenital, 3		2
HP:0011339	HP:0000219	Thin upper lip vermilion	1	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0011339	HP:0000219	Thin upper lip vermilion	1	HUWE1 CL E G H	10075	30892	OMIM:309590	Mental retardation, x-linked syndromic, Turner type		98
HP:0011339	HP:0010804	Tented upper lip vermilion	1	IER3IP1 CL E G H	51124	18550	OMIM:614231	Microcephaly, epilepsy, and diabetes syndrome	.	6
HP:0011339	HP:0000219	Thin upper lip vermilion	1	IFIH1 CL E G H	64135	18873	OMIM:182250	Singleton-Merten syndrome 1		28
HP:0011339	HP:0000219	Thin upper lip vermilion	1	IFT43 CL E G H	112752	29669	OMIM:617866	SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY; SRTD18		11
HP:0011339	HP:0000219	Thin upper lip vermilion	1	IGF1R CL E G H	3480	5465	OMIM:270450	Insulin-Like growth factor I, resistance to		268
HP:0011339	HP:0010804	Tented upper lip vermilion	1	IL1RAPL1 CL E G H	11141	5996	OMIM:300143	Mental retardation, X-linked 21	.	42
HP:0011339	HP:0000219	Thin upper lip vermilion	1	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0011339	HP:0010804	Tented upper lip vermilion	1	IQSEC2 CL E G H	23096	29059	ORPHA:819	Smith-Magenis syndrome	HP:0040281 - Very frequent	119
HP:0011339	HP:0000219	Thin upper lip vermilion	1	IRF6 CL E G H	3664	6121	ORPHA:1300	Autosomal dominant popliteal pterygium syndrome	HP:0040281 - Very frequent	99
HP:0011339	HP:0000219	Thin upper lip vermilion	1	IRX5 CL E G H	10265	14361	OMIM:611174	Hamamy syndrome		4
HP:0011339	HP:0000219	Thin upper lip vermilion	1	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome	.	34
HP:0011339	HP:0000219	Thin upper lip vermilion	1	KAT6A CL E G H	7994	13013	ORPHA:457193	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	HP:0040281 - Very frequent	34
HP:0011339	HP:0000219	Thin upper lip vermilion	1	KATNB1 CL E G H	10300	6217	OMIM:616212	Lissencephaly 6, with microcephaly		10
HP:0011339	HP:0010803	Everted upper lip vermilion	1	KCNH1 CL E G H	3756	6250	ORPHA:420561	Temple-Baraitser syndrome	HP:0040283 - Occasional	13
HP:0011339	HP:0010804	Tented upper lip vermilion	1	KCNH1 CL E G H	3756	6250	ORPHA:420561	Temple-Baraitser syndrome	HP:0040283 - Occasional	13
HP:0011339	HP:0000219	Thin upper lip vermilion	1	KCNJ2 CL E G H	3759	6263	OMIM:170390	Andersen cardiodysrhythmic periodic paralysis		193
HP:0011339	HP:0000219	Thin upper lip vermilion	1	KCNJ2 CL E G H	3759	6263	ORPHA:37553	Andersen-Tawil syndrome	HP:0040283 - Occasional	193
HP:0011339	HP:0000219	Thin upper lip vermilion	1	KCNJ5 CL E G H	3762	6266	ORPHA:37553	Andersen-Tawil syndrome	HP:0040283 - Occasional	128
HP:0011339	HP:0010804	Tented upper lip vermilion	1	KCNJ6 CL E G H	3763	6267	OMIM:614098	Keppen-Lubinsky syndrome	.	3
HP:0011339	HP:0010804	Tented upper lip vermilion	1	KCNJ6 CL E G H	3763	6267	ORPHA:435628	Keppen-Lubinsky syndrome	HP:0040282 - Frequent	3
HP:0011339	HP:0000219	Thin upper lip vermilion	1	KCNK4 CL E G H	50801	6279	OMIM:618381	Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome
HP:0011339	HP:0010803	Everted upper lip vermilion	1	KCNK4 CL E G H	50801	6279	OMIM:618381	Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome	.
HP:0011339	HP:0010804	Tented upper lip vermilion	1	KCNK9 CL E G H	51305	6283	OMIM:612292	BIRK-BAREL SYNDROME		4
HP:0011339	HP:0010804	Tented upper lip vermilion	1	KCNK9 CL E G H	51305	6283	ORPHA:166108	Intellectual disability, Birk-Barel type	HP:0040282 - Frequent	4
HP:0011339	HP:0000219	Thin upper lip vermilion	1	KCNMA1 CL E G H	3778	6284	OMIM:618729	LIANG-WANG SYNDROME; LIWAS		114
HP:0011339	HP:0000219	Thin upper lip vermilion	1	KDM1A CL E G H	23028	29079	OMIM:616728	Cleft palate, psychomotor retardation, and distinctive facial features		3
HP:0011339	HP:0000219	Thin upper lip vermilion	1	KDM1A CL E G H	23028	29079	ORPHA:477993	Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome	HP:0040282 - Frequent	3
HP:0011339	HP:0000219	Thin upper lip vermilion	1	KDM3B CL E G H	51780	1337	OMIM:618846	DIETS-JONGMANS SYNDROME; DIJOS
HP:0011339	HP:0000215	Thick upper lip vermilion	1	KDM4B CL E G H	23030	29136	OMIM:619320	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0011339	HP:0010804	Tented upper lip vermilion	1	KDM4B CL E G H	23030	29136	OMIM:619320	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0011339	HP:0000219	Thin upper lip vermilion	1	KDM5C CL E G H	8242	11114	OMIM:300534	Mental retardation, X-linked, syndromic, Claes-Jensen type		81
HP:0011339	HP:0000219	Thin upper lip vermilion	1	KIF11 CL E G H	3832	6388	OMIM:152950	Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation	.	46
HP:0011339	HP:0000219	Thin upper lip vermilion	1	KIF14 CL E G H	9928	19181	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent	9
HP:0011339	HP:0000219	Thin upper lip vermilion	1	KIF15 CL E G H	56992	17273	ORPHA:261323	21q22.11q22.12 microdeletion syndrome	HP:0040283 - Occasional
HP:0011339	HP:0002263	Exaggerated cupid's bow	1	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome		167
HP:0011339	HP:0010803	Everted upper lip vermilion	1	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome		167
HP:0011339	HP:0000219	Thin upper lip vermilion	1	KMT2A CL E G H	4297	7132	OMIM:605130	Wiedemann-Steiner syndrome	.	91
HP:0011339	HP:0000219	Thin upper lip vermilion	1	KMT2A CL E G H	4297	7132	ORPHA:319182	Wiedemann-Steiner syndrome	HP:0040282 - Frequent	91
HP:0011339	HP:0000219	Thin upper lip vermilion	1	KNL1 CL E G H	57082	24054	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent	112
HP:0011339	HP:0000219	Thin upper lip vermilion	1	LAS1L CL E G H	81887	25726	ORPHA:3459	Wilson-Turner syndrome	HP:0040281 - Very frequent	8
HP:0011339	HP:0000219	Thin upper lip vermilion	1	LMBRD1 CL E G H	55788	23038	OMIM:277380	Methylmalonic aciduria and homocystinuria, Cblf type		46
HP:0011339	HP:0000219	Thin upper lip vermilion	1	MAF CL E G H	4094	6776	ORPHA:1272	Aymé-Gripp syndrome	HP:0040282 - Frequent	21
HP:0011339	HP:0000219	Thin upper lip vermilion	1	MAF CL E G H	4094	6776	OMIM:601088	Ayme-Gripp syndrome		21
HP:0011339	HP:0000219	Thin upper lip vermilion	1	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome	HP:0040283 - Occasional	63
HP:0011339	HP:0000219	Thin upper lip vermilion	1	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome		63
HP:0011339	HP:0000219	Thin upper lip vermilion	1	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:0011339	HP:0000219	Thin upper lip vermilion	1	MAN1B1 CL E G H	11253	6823	ORPHA:397941	MAN1B1-CDG	HP:0040283 - Occasional	93
HP:0011339	HP:0000219	Thin upper lip vermilion	1	MAN1B1 CL E G H	11253	6823	OMIM:614202	Rafiq syndrome		93
HP:0011339	HP:0010803	Everted upper lip vermilion	1	MAP1B CL E G H	4131	6836	OMIM:618918	PERIVENTRICULAR NODULAR HETEROTOPIA 9; PVNH9
HP:0011339	HP:0000219	Thin upper lip vermilion	1	MAPK1 CL E G H	5594	6871	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040282 - Frequent	2
HP:0011339	HP:0010806	U-Shaped upper lip vermilion	1	MAPK1 CL E G H	5594	6871	OMIM:619087	NOONAN SYNDROME 13; NS13		2
HP:0011339	HP:0000219	Thin upper lip vermilion	1	MAPK8IP3 CL E G H	23162	6884	OMIM:618443	Neurodevelopmental disorder with or without variable brain abnormalities	.
HP:0011339	HP:0000219	Thin upper lip vermilion	1	MAPRE2 CL E G H	10982	6891	OMIM:616734	Skin creases, congenital symmetric circumferential, 2		4
HP:0011339	HP:0010804	Tented upper lip vermilion	1	MBD5 CL E G H	55777	20444	ORPHA:228402	2q23.1 microdeletion syndrome	HP:0040282 - Frequent	252
HP:0011339	HP:0000219	Thin upper lip vermilion	1	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1	.	252
HP:0011339	HP:0000219	Thin upper lip vermilion	1	MCM7 CL E G H	4176	6950	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent
HP:0011339	HP:0000219	Thin upper lip vermilion	1	MCPH1 CL E G H	79648	6954	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent	155
HP:0011339	HP:0000219	Thin upper lip vermilion	1	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q	HP:0040282 - Frequent	3
HP:0011339	HP:0010804	Tented upper lip vermilion	1	MECP2 CL E G H	4204	6990	OMIM:300260	Mental retardation, x-linked syndromic, Lubs type	.	950
HP:0011339	HP:0010804	Tented upper lip vermilion	1	MECP2 CL E G H	4204	6990	ORPHA:1762	Proximal Xq28 duplication syndrome	HP:0040281 - Very frequent	950
HP:0011339	HP:0000219	Thin upper lip vermilion	1	MED12 CL E G H	9968	11957	OMIM:309520	Lujan-Fryns syndrome		228
HP:0011339	HP:0000219	Thin upper lip vermilion	1	MED12L CL E G H	116931	16050	OMIM:618872	NIZON-ISIDOR SYNDROME; NIZIDS
HP:0011339	HP:0000219	Thin upper lip vermilion	1	MED13 CL E G H	9969	22474	OMIM:618009	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 61; MRD61		4
HP:0011339	HP:0010804	Tented upper lip vermilion	1	MED25 CL E G H	81857	28845	OMIM:616449	Basel-Vanagaite-Smirin-Yosef syndrome	.	43
HP:0011339	HP:0002263	Exaggerated cupid's bow	1	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome	HP:0040282 - Frequent	43
HP:0011339	HP:0010804	Tented upper lip vermilion	1	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome	HP:0040282 - Frequent	43
HP:0011339	HP:0002263	Exaggerated cupid's bow	1	MED27 CL E G H	9442	2377	OMIM:619286	NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA; NEDSCAC
HP:0011339	HP:0000219	Thin upper lip vermilion	1	MEF2C CL E G H	4208	6996	OMIM:613443	Mental retardation, autosomal dominant 20		132
HP:0011339	HP:0002263	Exaggerated cupid's bow	1	MEG3 CL E G H	55384	14575	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion	HP:0040283 - Occasional	1
HP:0011339	HP:0010804	Tented upper lip vermilion	1	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:0011339	HP:0000219	Thin upper lip vermilion	1	MEIS2 CL E G H	4212	7001	OMIM:600987	Cleft palate, cardiac defects, and mental retardation		7
HP:0011339	HP:0010804	Tented upper lip vermilion	1	MEIS2 CL E G H	4212	7001	OMIM:600987	Cleft palate, cardiac defects, and mental retardation	.	7
HP:0011339	HP:0010804	Tented upper lip vermilion	1	MESD CL E G H	23184	13520	OMIM:618644	OSTEOGENESIS IMPERFECTA, TYPE XX; OI20
HP:0011339	HP:0000219	Thin upper lip vermilion	1	METTL5 CL E G H	29081	25006	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent
HP:0011339	HP:0000219	Thin upper lip vermilion	1	METTL5 CL E G H	29081	25006	OMIM:618665	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 72; MRT72
HP:0011339	HP:0000219	Thin upper lip vermilion	1	MFSD2A CL E G H	84879	25897	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent	5
HP:0011339	HP:0010804	Tented upper lip vermilion	1	MICU1 CL E G H	10367	1530	OMIM:615673	Myopathy with extrapyramidal signs		14
HP:0011339	HP:0000219	Thin upper lip vermilion	1	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I		57
HP:0011339	HP:0000215	Thick upper lip vermilion	1	MINPP1 CL E G H	9562	7102	ORPHA:284339	Pontocerebellar hypoplasia type 7	HP:0040282 - Frequent	3
HP:0011339	HP:0000219	Thin upper lip vermilion	1	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome		5
HP:0011339	HP:0000219	Thin upper lip vermilion	1	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0011339	HP:0000219	Thin upper lip vermilion	1	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1		127
HP:0011339	HP:0000219	Thin upper lip vermilion	1	MPC1 CL E G H	51660	21606	OMIM:614741	Mitochondrial pyruvate carrier deficiency	HP:0040283 - Occasional	6
HP:0011339	HP:0010804	Tented upper lip vermilion	1	MSL3 CL E G H	10943	7370	OMIM:301032	BASILICATA-AKHTAR SYNDROME; MRXSBA
HP:0011339	HP:0000219	Thin upper lip vermilion	1	MTOR CL E G H	2475	3942	OMIM:616638	Smith-Kingsmore syndrome	.	68
HP:0011339	HP:0010804	Tented upper lip vermilion	1	MYL2 CL E G H	4633	7583	OMIM:619424	MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY; MFM12		131
HP:0011339	HP:0000219	Thin upper lip vermilion	1	MYMX CL E G H	101929726	52391	OMIM:619941
HP:0011339	HP:0000219	Thin upper lip vermilion	1	MYO18B CL E G H	84700	18150	OMIM:616549	Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism		5
HP:0011339	HP:0010804	Tented upper lip vermilion	1	MYOD1 CL E G H	4654	7611	OMIM:618975	MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES; MYODRIF
HP:0011339	HP:0010803	Everted upper lip vermilion	1	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome	.	23
HP:0011339	HP:0010803	Everted upper lip vermilion	1	NAA10 CL E G H	8260	18704	ORPHA:276432	Ogden syndrome	HP:0040283 - Occasional	23
HP:0011339	HP:0000219	Thin upper lip vermilion	1	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome	.	23
HP:0011339	HP:0000215	Thick upper lip vermilion	1	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome	.	23
HP:0011339	HP:0000215	Thick upper lip vermilion	1	NAA20 CL E G H	51126	15908	OMIM:619717	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73; MRT73
HP:0011339	HP:0000219	Thin upper lip vermilion	1	NALCN CL E G H	259232	19082	OMIM:615419	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1	.	48
HP:0011339	HP:0010804	Tented upper lip vermilion	1	NALCN CL E G H	259232	19082	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome	HP:0040282 - Frequent	48
HP:0011339	HP:0000219	Thin upper lip vermilion	1	NALCN CL E G H	259232	19082	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome	HP:0040282 - Frequent	48
HP:0011339	HP:0000219	Thin upper lip vermilion	1	NCAPD3 CL E G H	23310	28952	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent	1
HP:0011339	HP:0010804	Tented upper lip vermilion	1	NCAPG2 CL E G H	54892	21904	OMIM:618460	Khan-Khan-Katsanis syndrome	.	2
HP:0011339	HP:0000219	Thin upper lip vermilion	1	NDN CL E G H	4692	7675	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040283 - Occasional
HP:0011339	HP:0010804	Tented upper lip vermilion	1	NEXMIF CL E G H	340533	29433	OMIM:300912	Mental retardation, X-linked 98		52
HP:0011339	HP:0000219	Thin upper lip vermilion	1	NEXMIF CL E G H	340533	29433	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040284 - Very rare	52
HP:0011339	HP:0010804	Tented upper lip vermilion	1	NEXMIF CL E G H	340533	29433	ORPHA:85277	X-linked intellectual disability, Cantagrel type	HP:0040281 - Very frequent	52
HP:0011339	HP:0000219	Thin upper lip vermilion	1	NFIA CL E G H	4774	7784	OMIM:613735	Brain malformations with or without urinary tract defects	.	12
HP:0011339	HP:0000219	Thin upper lip vermilion	1	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1	.	494
HP:0011339	HP:0010804	Tented upper lip vermilion	1	NODAL CL E G H	4838	7865	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent	45
HP:0011339	HP:0000219	Thin upper lip vermilion	1	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1	.	22
HP:0011339	HP:0000215	Thick upper lip vermilion	1	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1	.	22
HP:0011339	HP:0000219	Thin upper lip vermilion	1	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome	HP:0040283 - Occasional	10
HP:0011339	HP:0000219	Thin upper lip vermilion	1	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome		1
HP:0011339	HP:0002263	Exaggerated cupid's bow	1	NRCAM CL E G H	4897	7994	OMIM:619833			2
HP:0011339	HP:0010804	Tented upper lip vermilion	1	NRCAM CL E G H	4897	7994	OMIM:619833			2
HP:0011339	HP:0010804	Tented upper lip vermilion	1	NSRP1 CL E G H	84081	25305	OMIM:620001
HP:0011339	HP:0000215	Thick upper lip vermilion	1	NSUN2 CL E G H	54888	25994	OMIM:611091	Mental retardation, autosomal recessive 5	.	84
HP:0011339	HP:0010804	Tented upper lip vermilion	1	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040282 - Frequent	2
HP:0011339	HP:0002263	Exaggerated cupid's bow	1	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040283 - Occasional	2
HP:0011339	HP:0000219	Thin upper lip vermilion	1	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:0011339	HP:0000219	Thin upper lip vermilion	1	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe	HP:0040283 - Occasional	88
HP:0011339	HP:0000219	Thin upper lip vermilion	1	ODC1 CL E G H	4953	8109	OMIM:619075	BACHMANN-BUPP SYNDROME; BABS		1
HP:0011339	HP:0000219	Thin upper lip vermilion	1	OFD1 CL E G H	8481	2567	OMIM:300209	Simpson-golabi-behmel syndrome, type 2		201
HP:0011339	HP:0010806	U-Shaped upper lip vermilion	1	OFD1 CL E G H	8481	2567	OMIM:300209	Simpson-golabi-behmel syndrome, type 2	.	201
HP:0011339	HP:0000219	Thin upper lip vermilion	1	OGT CL E G H	8473	8127	OMIM:300997	Mental retardation, X-linked 106		4
HP:0011339	HP:0000219	Thin upper lip vermilion	1	OPHN1 CL E G H	4983	8148	OMIM:300486	Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance		55
HP:0011339	HP:0000219	Thin upper lip vermilion	1	OTUD6B CL E G H	51633	24281	ORPHA:505237	Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome	HP:0040282 - Frequent	4
HP:0011339	HP:0000219	Thin upper lip vermilion	1	OTUD6B CL E G H	51633	24281	OMIM:617452	Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies		4
HP:0011339	HP:0000219	Thin upper lip vermilion	1	PACS1 CL E G H	55690	30032	ORPHA:329224	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome	HP:0040283 - Occasional	24
HP:0011339	HP:0000219	Thin upper lip vermilion	1	PACS1 CL E G H	55690	30032	OMIM:615009	Schuurs-Hoeijmakers syndrome	.	24
HP:0011339	HP:0000219	Thin upper lip vermilion	1	PACS2 CL E G H	23241	23794	OMIM:618067	Epileptic encephalopathy, early infantile, 66	.
HP:0011339	HP:0000215	Thick upper lip vermilion	1	PAK3 CL E G H	5063	8592	OMIM:300558	MENTAL RETARDATION, X-LINKED 30; MRX30		27
HP:0011339	HP:0000219	Thin upper lip vermilion	1	PAK3 CL E G H	5063	8592	OMIM:300558	MENTAL RETARDATION, X-LINKED 30; MRX30		27
HP:0011339	HP:0010804	Tented upper lip vermilion	1	PAX3 CL E G H	5077	8617	ORPHA:894	Waardenburg syndrome type 1	HP:0040282 - Frequent	59
HP:0011339	HP:0010804	Tented upper lip vermilion	1	PAX3 CL E G H	5077	8617	ORPHA:896	Waardenburg syndrome type 3	HP:0040281 - Very frequent	59
HP:0011339	HP:0000219	Thin upper lip vermilion	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:0011339	HP:0000219	Thin upper lip vermilion	1	PCGF2 CL E G H	7703	12929	OMIM:618371	Turnpenny-Fry syndrome	.
HP:0011339	HP:0000219	Thin upper lip vermilion	1	PDE4D CL E G H	5144	8783	ORPHA:439822	PDE4D haploinsufficiency syndrome	HP:0040283 - Occasional	113
HP:0011339	HP:0000219	Thin upper lip vermilion	1	PDGFRB CL E G H	5159	8804	OMIM:616592	Kosaki overgrowth syndrome	.	28
HP:0011339	HP:0010804	Tented upper lip vermilion	1	PGAP2 CL E G H	27315	17893	OMIM:614207	Hyperphosphatasia with mental retardation syndrome 3	.	8
HP:0011339	HP:0010804	Tented upper lip vermilion	1	PGAP2 CL E G H	27315	17893	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040282 - Frequent	8
HP:0011339	HP:0010804	Tented upper lip vermilion	1	PGAP3 CL E G H	93210	23719	OMIM:615716	Hyperphosphatasia with mental retardation syndrome 4	.	20
HP:0011339	HP:0000219	Thin upper lip vermilion	1	PGAP3 CL E G H	93210	23719	OMIM:615716	Hyperphosphatasia with mental retardation syndrome 4	.	20
HP:0011339	HP:0010804	Tented upper lip vermilion	1	PGAP3 CL E G H	93210	23719	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040282 - Frequent	20
HP:0011339	HP:0000219	Thin upper lip vermilion	1	PHC1 CL E G H	1911	3182	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent	16
HP:0011339	HP:0000219	Thin upper lip vermilion	1	PIEZO2 CL E G H	63895	26270	OMIM:617146	Arthrogryposis, distal, with impaired proprioception and touch	.	77
HP:0011339	HP:0010804	Tented upper lip vermilion	1	PIGB CL E G H	9488	8959	OMIM:618580	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80; DEE80
HP:0011339	HP:0000219	Thin upper lip vermilion	1	PIGG CL E G H	54872	25985	ORPHA:488635	Early-onset epilepsy-intellectual disability-brain anomalies syndrome	HP:0040283 - Occasional	7
HP:0011339	HP:0000219	Thin upper lip vermilion	1	PIGK CL E G H	10026	8965	OMIM:618879	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CEREBELLAR ATROPHY, WITH OR WITHOUT SEIZURES; NEDHCAS
HP:0011339	HP:0010804	Tented upper lip vermilion	1	PIGL CL E G H	9487	8966	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040282 - Frequent	36
HP:0011339	HP:0010804	Tented upper lip vermilion	1	PIGN CL E G H	23556	8967	ORPHA:2059	Fryns syndrome	HP:0040281 - Very frequent	37
HP:0011339	HP:0000219	Thin upper lip vermilion	1	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome	HP:0040283 - Occasional	37
HP:0011339	HP:0010804	Tented upper lip vermilion	1	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome	HP:0040283 - Occasional	37
HP:0011339	HP:0010804	Tented upper lip vermilion	1	PIGO CL E G H	84720	23215	OMIM:614749	Hyperphosphatasia with mental retardation syndrome 2		84
HP:0011339	HP:0010804	Tented upper lip vermilion	1	PIGO CL E G H	84720	23215	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040282 - Frequent	84
HP:0011339	HP:0000219	Thin upper lip vermilion	1	PIGQ CL E G H	9091	14135	OMIM:618548	MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4; MCAHS4		3
HP:0011339	HP:0002263	Exaggerated cupid's bow	1	PIGT CL E G H	51604	14938	ORPHA:369837	Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome	HP:0040283 - Occasional	12
HP:0011339	HP:0010804	Tented upper lip vermilion	1	PIGT CL E G H	51604	14938	ORPHA:369837	Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome	HP:0040283 - Occasional	12
HP:0011339	HP:0000219	Thin upper lip vermilion	1	PIGU CL E G H	128869	15791	OMIM:618590	NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS; NEDBSS
HP:0011339	HP:0010804	Tented upper lip vermilion	1	PIGV CL E G H	55650	26031	OMIM:239300	Hyperphosphatasia with mental retardation	.	57
HP:0011339	HP:0000219	Thin upper lip vermilion	1	PIGV CL E G H	55650	26031	OMIM:239300	Hyperphosphatasia with mental retardation		57
HP:0011339	HP:0010804	Tented upper lip vermilion	1	PIGV CL E G H	55650	26031	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040282 - Frequent	57
HP:0011339	HP:0010804	Tented upper lip vermilion	1	PIGW CL E G H	284098	23213	OMIM:616025	Glycosylphosphatidylinositol biosynthesis defect 11	.	6
HP:0011339	HP:0010804	Tented upper lip vermilion	1	PIGW CL E G H	284098	23213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040282 - Frequent	6
HP:0011339	HP:0010804	Tented upper lip vermilion	1	PIGY CL E G H	84992	28213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040282 - Frequent	2
HP:0011339	HP:0000219	Thin upper lip vermilion	1	PITX2 CL E G H	5308	9005	OMIM:180500	Axenfeld-rieger syndrome, type 1		51
HP:0011339	HP:0010804	Tented upper lip vermilion	1	PLAA CL E G H	9373	9043	OMIM:617527	Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies	.	3
HP:0011339	HP:0010804	Tented upper lip vermilion	1	PLAA CL E G H	9373	9043	ORPHA:521426	PLAA-associated neurodevelopmental disorder	HP:0040282 - Frequent	3
HP:0011339	HP:0000219	Thin upper lip vermilion	1	PLPBP CL E G H	11212	9457	OMIM:617290	Epilepsy, early-onset, vitamin b6-dependent		6
HP:0011339	HP:0000219	Thin upper lip vermilion	1	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia		150
HP:0011339	HP:0000219	Thin upper lip vermilion	1	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG	HP:0040282 - Frequent	150
HP:0011339	HP:0000219	Thin upper lip vermilion	1	POGZ CL E G H	23126	18801	ORPHA:468678	White-Sutton syndrome	HP:0040283 - Occasional	35
HP:0011339	HP:0000219	Thin upper lip vermilion	1	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040281 - Very frequent	138
HP:0011339	HP:0000219	Thin upper lip vermilion	1	PPM1D CL E G H	8493	9277	OMIM:617450	Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold	.	22
HP:0011339	HP:0000219	Thin upper lip vermilion	1	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2		9
HP:0011339	HP:0000219	Thin upper lip vermilion	1	PPP1R15B CL E G H	84919	14951	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome	HP:0040283 - Occasional	2
HP:0011339	HP:0010804	Tented upper lip vermilion	1	PPP1R21 CL E G H	129285	30595	OMIM:619383	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0011339	HP:0010804	Tented upper lip vermilion	1	PPP2R1A CL E G H	5518	9302	OMIM:616362	Mental retardation, autosomal dominant 36	.	13
HP:0011339	HP:0000219	Thin upper lip vermilion	1	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome	HP:0040284 - Very rare	10
HP:0011339	HP:0000219	Thin upper lip vermilion	1	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome	.	28
HP:0011339	HP:0010804	Tented upper lip vermilion	1	PREPL CL E G H	9581	30228	OMIM:616224	Myasthenic syndrome, congenital, 22	.	7
HP:0011339	HP:0010804	Tented upper lip vermilion	1	PRKACB CL E G H	5567	9381	OMIM:619143	CARDIOACROFACIAL DYSPLASIA 2; CAFD2		2
HP:0011339	HP:0000219	Thin upper lip vermilion	1	PRKAR1B CL E G H	5575	9390	OMIM:619680	MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME; MASNS		2
HP:0011339	HP:0000219	Thin upper lip vermilion	1	PRKDC CL E G H	5591	9413	OMIM:615966	Immunodeficiency 26 with or without neurologic abnormalities	HP:0040283 - Occasional	42
HP:0011339	HP:0000219	Thin upper lip vermilion	1	PSMD12 CL E G H	5718	9557	ORPHA:529962	17q24.2 microdeletion syndrome	HP:0040282 - Frequent	4
HP:0011339	HP:0010804	Tented upper lip vermilion	1	PTCH1 CL E G H	5727	9585	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent	665
HP:0011339	HP:0000219	Thin upper lip vermilion	1	PTRH2 CL E G H	51651	24265	ORPHA:456312	Infantile multisystem neurologic-endocrine-pancreatic disease	HP:0040282 - Frequent	6
HP:0011339	HP:0000219	Thin upper lip vermilion	1	PTRH2 CL E G H	51651	24265	OMIM:616263	Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset	.	6
HP:0011339	HP:0000219	Thin upper lip vermilion	1	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome	HP:0040282 - Frequent	19
HP:0011339	HP:0000219	Thin upper lip vermilion	1	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome	HP:0040282 - Frequent	19
HP:0011339	HP:0000219	Thin upper lip vermilion	1	PUF60 CL E G H	22827	17042	OMIM:615583	Verheij syndrome	.	19
HP:0011339	HP:0010804	Tented upper lip vermilion	1	PURA CL E G H	5813	9701	OMIM:616158	Mental retardation, autosomal dominant 31		53
HP:0011339	HP:0010804	Tented upper lip vermilion	1	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:0011339	HP:0000219	Thin upper lip vermilion	1	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:0011339	HP:0010804	Tented upper lip vermilion	1	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:0011339	HP:0000219	Thin upper lip vermilion	1	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0011339	HP:0000219	Thin upper lip vermilion	1	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0011339	HP:0000219	Thin upper lip vermilion	1	PYCR2 CL E G H	29920	30262	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent	11
HP:0011339	HP:0000219	Thin upper lip vermilion	1	QRICH1 CL E G H	54870	24713	OMIM:617982	VERVERI-BRADY SYNDROME; VERBRAS
HP:0011339	HP:0010804	Tented upper lip vermilion	1	RAB11B CL E G H	9230	9761	OMIM:617807	Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter	.
HP:0011339	HP:0000219	Thin upper lip vermilion	1	RAD21 CL E G H	5885	9811	OMIM:614701	Cornelia de Lange syndrome 4	.	25
HP:0011339	HP:0000219	Thin upper lip vermilion	1	RAI1 CL E G H	10743	9834	ORPHA:477817	PMP22-RAI1 contiguous gene duplication syndrome	HP:0040283 - Occasional	150
HP:0011339	HP:0010804	Tented upper lip vermilion	1	RAI1 CL E G H	10743	9834	ORPHA:819	Smith-Magenis syndrome	HP:0040281 - Very frequent	150
HP:0011339	HP:0010803	Everted upper lip vermilion	1	RAI1 CL E G H	10743	9834	OMIM:182290	Smith-Magenis syndrome		150
HP:0011339	HP:0000219	Thin upper lip vermilion	1	RALA CL E G H	5898	9839	OMIM:619311	HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME; HINCONS
HP:0011339	HP:0002263	Exaggerated cupid's bow	1	RALA CL E G H	5898	9839	OMIM:619311	HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME; HINCONS
HP:0011339	HP:0010804	Tented upper lip vermilion	1	RAPSN CL E G H	5913	9863	OMIM:618388	FETAL AKINESIA DEFORMATION SEQUENCE 2; FADS2		73
HP:0011339	HP:0000219	Thin upper lip vermilion	1	RHOBTB2 CL E G H	23221	18756	OMIM:618004	Epileptic encephalopathy, early infantile, 64	.	1
HP:0011339	HP:0000219	Thin upper lip vermilion	1	RNF135 CL E G H	84282	21158	ORPHA:137634	Overgrowth-macrocephaly-facial dysmorphism syndrome	HP:0040281 - Very frequent	11
HP:0011339	HP:0000219	Thin upper lip vermilion	1	RNU4ATAC CL E G H	100151683	34016	OMIM:616651	Roifman syndrome		15
HP:0011339	HP:0000219	Thin upper lip vermilion	1	RNU4ATAC CL E G H	100151683	34016	ORPHA:353298	Roifman syndrome	HP:0040282 - Frequent	15
HP:0011339	HP:0010804	Tented upper lip vermilion	1	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040282 - Frequent	120
HP:0011339	HP:0002263	Exaggerated cupid's bow	1	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040283 - Occasional	120
HP:0011339	HP:0010804	Tented upper lip vermilion	1	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive		120
HP:0011339	HP:0000219	Thin upper lip vermilion	1	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive		120
HP:0011339	HP:0000219	Thin upper lip vermilion	1	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35		10
HP:0011339	HP:0000219	Thin upper lip vermilion	1	RPL10 CL E G H	6134	10298	ORPHA:459070	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome	HP:0040283 - Occasional	10
HP:0011339	HP:0000219	Thin upper lip vermilion	1	RPL10 CL E G H	6134	10298	ORPHA:435938	X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome	HP:0040282 - Frequent	10
HP:0011339	HP:0000215	Thick upper lip vermilion	1	RPS7 CL E G H	6201	10440	OMIM:612563	Diamond-Blackfan anemia 8	.	20
HP:0011339	HP:0010804	Tented upper lip vermilion	1	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:0011339	HP:0010804	Tented upper lip vermilion	1	RSPRY1 CL E G H	89970	29420	OMIM:616723	Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type	.	2
HP:0011339	HP:0002263	Exaggerated cupid's bow	1	RTL1 CL E G H	388015	14665	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion	HP:0040283 - Occasional
HP:0011339	HP:0010804	Tented upper lip vermilion	1	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional
HP:0011339	HP:0010804	Tented upper lip vermilion	1	RYR1 CL E G H	6261	10483	ORPHA:98905	Congenital multicore myopathy with external ophthalmoplegia	HP:0040283 - Occasional	1200
HP:0011339	HP:0000219	Thin upper lip vermilion	1	SASS6 CL E G H	163786	25403	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent	4
HP:0011339	HP:0000219	Thin upper lip vermilion	1	SATB2 CL E G H	23314	21637	ORPHA:576283	SATB2-associated syndrome due to a pathogenic variant	HP:0040282 - Frequent	34
HP:0011339	HP:0000215	Thick upper lip vermilion	1	SC5D CL E G H	6309	10547	OMIM:607330	LATHOSTEROLOSIS		80
HP:0011339	HP:0000219	Thin upper lip vermilion	1	SCN1A CL E G H	6323	10585	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040284 - Very rare	1053
HP:0011339	HP:0000219	Thin upper lip vermilion	1	SEC23A CL E G H	10484	10701	OMIM:607812	Craniolenticulosutural dysplasia		2
HP:0011339	HP:0000219	Thin upper lip vermilion	1	SETBP1 CL E G H	26040	15573	OMIM:616078	Mental retardation, autosomal dominant 29	.	143
HP:0011339	HP:0010803	Everted upper lip vermilion	1	SETD1A CL E G H	9739	29010	OMIM:619056	NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND DYSMORPHIC FACIES; NEDSID		6
HP:0011339	HP:0000219	Thin upper lip vermilion	1	SETD5 CL E G H	55209	25566	ORPHA:404440	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	HP:0040283 - Occasional	43
HP:0011339	HP:0000219	Thin upper lip vermilion	1	SETD5 CL E G H	55209	25566	OMIM:615761	MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD23		43
HP:0011339	HP:0000219	Thin upper lip vermilion	1	SH3PXD2B CL E G H	285590	29242	OMIM:249420	Frank-ter Haar syndrome		134
HP:0011339	HP:0010804	Tented upper lip vermilion	1	SHH CL E G H	6469	10848	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent	67
HP:0011339	HP:0000219	Thin upper lip vermilion	1	SHMT2 CL E G H	6472	10852	OMIM:619121	NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0011339	HP:0000219	Thin upper lip vermilion	1	SIM1 CL E G H	6492	10882	ORPHA:398079	SIM1-related Prader-Willi-like syndrome	HP:0040283 - Occasional	40
HP:0011339	HP:0000219	Thin upper lip vermilion	1	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome		9
HP:0011339	HP:0010804	Tented upper lip vermilion	1	SIX3 CL E G H	6496	10889	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent	32
HP:0011339	HP:0002263	Exaggerated cupid's bow	1	SLC1A3 CL E G H	6507	10941	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040283 - Occasional	63
HP:0011339	HP:0000219	Thin upper lip vermilion	1	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome	.
HP:0011339	HP:0010804	Tented upper lip vermilion	1	SLC25A46 CL E G H	91137	25198	OMIM:616505	Neuropathy, hereditary motor and sensory, type VIB	.	14
HP:0011339	HP:0000219	Thin upper lip vermilion	1	SLC26A2 CL E G H	1836	10994	ORPHA:56304	Atelosteogenesis type II	HP:0040283 - Occasional	166
HP:0011339	HP:0000219	Thin upper lip vermilion	1	SLC2A1 CL E G H	6513	11005	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040284 - Very rare	255
HP:0011339	HP:0002263	Exaggerated cupid's bow	1	SLC35A2 CL E G H	7355	11022	OMIM:300896	Congenital disorder of glycosylation, type IIm		27
HP:0011339	HP:0000219	Thin upper lip vermilion	1	SLC6A1 CL E G H	6529	11042	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040284 - Very rare	29
HP:0011339	HP:0000219	Thin upper lip vermilion	1	SLC9A7 CL E G H	84679	17123	OMIM:301024	Intellectual developmental disorder, X-linked 108	.
HP:0011339	HP:0000219	Thin upper lip vermilion	1	SMAD4 CL E G H	4089	6770	OMIM:139210	Myhre syndrome		504
HP:0011339	HP:0002263	Exaggerated cupid's bow	1	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS		146
HP:0011339	HP:0000219	Thin upper lip vermilion	1	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS		146
HP:0011339	HP:0000219	Thin upper lip vermilion	1	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome		146
HP:0011339	HP:0000219	Thin upper lip vermilion	1	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent	617
HP:0011339	HP:0000219	Thin upper lip vermilion	1	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent	87
HP:0011339	HP:0000219	Thin upper lip vermilion	1	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent	1
HP:0011339	HP:0000219	Thin upper lip vermilion	1	SMARCC2 CL E G H	6601	11105	OMIM:618362	Coffin-Siris syndrome 8	.	1
HP:0011339	HP:0000219	Thin upper lip vermilion	1	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent
HP:0011339	HP:0000219	Thin upper lip vermilion	1	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent	47
HP:0011339	HP:0000219	Thin upper lip vermilion	1	SMARCE1 CL E G H	6605	11109	OMIM:616938	Coffin-Siris syndrome 5		47
HP:0011339	HP:0000219	Thin upper lip vermilion	1	SMC1A CL E G H	8243	11111	OMIM:300590	Cornelia de Lange syndrome 2	.	135
HP:0011339	HP:0000219	Thin upper lip vermilion	1	SMC1A CL E G H	8243	11111	OMIM:301044	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85		135
HP:0011339	HP:0000219	Thin upper lip vermilion	1	SMC3 CL E G H	9126	2468	OMIM:610759	Cornelia de Lange syndrome 3		91
HP:0011339	HP:0010804	Tented upper lip vermilion	1	SMPD4 CL E G H	55627	32949	OMIM:618622	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA		1
HP:0011339	HP:0000219	Thin upper lip vermilion	1	SMPD4 CL E G H	55627	32949	OMIM:618622	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA		1
HP:0011339	HP:0000219	Thin upper lip vermilion	1	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0011339	HP:0000219	Thin upper lip vermilion	1	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome
HP:0011339	HP:0000219	Thin upper lip vermilion	1	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:0011339	HP:0000219	Thin upper lip vermilion	1	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation	HP:0040282 - Frequent	37
HP:0011339	HP:0000219	Thin upper lip vermilion	1	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent	14
HP:0011339	HP:0000219	Thin upper lip vermilion	1	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent
HP:0011339	HP:0000215	Thick upper lip vermilion	1	SPATA5L1 CL E G H	79029	28762	OMIM:619616	NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY; NEDHLS
HP:0011339	HP:0000219	Thin upper lip vermilion	1	SPECC1L CL E G H	23384	29022	OMIM:145420	Hypertelorism, Teebi type		6
HP:0011339	HP:0000219	Thin upper lip vermilion	1	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS		4
HP:0011339	HP:0000219	Thin upper lip vermilion	1	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0011339	HP:0000219	Thin upper lip vermilion	1	SRCAP CL E G H	10847	16974	OMIM:619595	DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES; DEHMBA		138
HP:0011339	HP:0000219	Thin upper lip vermilion	1	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome		138
HP:0011339	HP:0000219	Thin upper lip vermilion	1	STAG2 CL E G H	10735	11355	OMIM:301022	Neurodevelopmental disorder, X-linked, with craniofacial abnormalities	.	1
HP:0011339	HP:0000219	Thin upper lip vermilion	1	STEEP1 CL E G H	63932	26239	OMIM:301013	MENTAL RETARDATION, X-LINKED 107; MRX107
HP:0011339	HP:0000219	Thin upper lip vermilion	1	STIL CL E G H	6491	10879	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent	99
HP:0011339	HP:0000215	Thick upper lip vermilion	1	STRADA CL E G H	92335	30172	OMIM:611087	Polyhydramnios, megalencephaly, and symptomatic epilepsy		6
HP:0011339	HP:0010804	Tented upper lip vermilion	1	STRADA CL E G H	92335	30172	ORPHA:500533	Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome	HP:0040283 - Occasional	6
HP:0011339	HP:0000219	Thin upper lip vermilion	1	STT3A CL E G H	3703	6172	OMIM:619714	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT; CDG1WAD		21
HP:0011339	HP:0010804	Tented upper lip vermilion	1	SUFU CL E G H	51684	16466	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent	124
HP:0011339	HP:0002263	Exaggerated cupid's bow	1	SUPT16H CL E G H	11198	11465	OMIM:619480	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC
HP:0011339	HP:0000219	Thin upper lip vermilion	1	SYNGAP1 CL E G H	8831	11497	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040284 - Very rare	108
HP:0011339	HP:0000219	Thin upper lip vermilion	1	SYT1 CL E G H	6857	11509	OMIM:618218	Baker-Gordon syndrome	.	1
HP:0011339	HP:0000219	Thin upper lip vermilion	1	SYT1 CL E G H	6857	11509	ORPHA:522077	Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome	HP:0040283 - Occasional	1
HP:0011339	HP:0000219	Thin upper lip vermilion	1	TAF1 CL E G H	6872	11535	OMIM:300966	MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33		21
HP:0011339	HP:0000219	Thin upper lip vermilion	1	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:0011339	HP:0000219	Thin upper lip vermilion	1	TAF13 CL E G H	6884	11546	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent	2
HP:0011339	HP:0000219	Thin upper lip vermilion	1	TAF6 CL E G H	6878	11540	OMIM:617126	Alazami-Yuan syndrome	.	5
HP:0011339	HP:0010804	Tented upper lip vermilion	1	TAF8 CL E G H	129685	17300	OMIM:619972
HP:0011339	HP:0000219	Thin upper lip vermilion	1	TASP1 CL E G H	55617	15859	OMIM:618950	SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0011339	HP:0000219	Thin upper lip vermilion	1	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome	HP:0040282 - Frequent	271
HP:0011339	HP:0000219	Thin upper lip vermilion	1	TBC1D24 CL E G H	57465	29203	OMIM:220500	Doors syndrome		271
HP:0011339	HP:0002263	Exaggerated cupid's bow	1	TBCK CL E G H	93627	28261	OMIM:616900	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3		13
HP:0011339	HP:0010804	Tented upper lip vermilion	1	TBCK CL E G H	93627	28261	OMIM:616900	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3		13
HP:0011339	HP:0010804	Tented upper lip vermilion	1	TBCK CL E G H	93627	28261	ORPHA:488632	TBCK-related intellectual disability syndrome	HP:0040283 - Occasional	13
HP:0011339	HP:0000219	Thin upper lip vermilion	1	TBL1XR1 CL E G H	79718	29529	ORPHA:487825	Pierpont syndrome	HP:0040283 - Occasional	22
HP:0011339	HP:0010804	Tented upper lip vermilion	1	TCF20 CL E G H	6942	11631	OMIM:618430	Developmental delay with variable intellectual impairment and behavioral abnormalities	.	1
HP:0011339	HP:0000219	Thin upper lip vermilion	1	TCF20 CL E G H	6942	11631	OMIM:618430	Developmental delay with variable intellectual impairment and behavioral abnormalities	.	1
HP:0011339	HP:0010803	Everted upper lip vermilion	1	TCF3 CL E G H	6929	11633	OMIM:619824	AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B		2
HP:0011339	HP:0010804	Tented upper lip vermilion	1	TDGF1 CL E G H	6997	11701	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent	1
HP:0011339	HP:0010804	Tented upper lip vermilion	1	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5		85
HP:0011339	HP:0010804	Tented upper lip vermilion	1	TGIF1 CL E G H	7050	11776	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent	32
HP:0011339	HP:0000215	Thick upper lip vermilion	1	THOC6 CL E G H	79228	28369	ORPHA:363444	THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome	HP:0040283 - Occasional	1
HP:0011339	HP:0000219	Thin upper lip vermilion	1	THUMPD1 CL E G H	55623	23807	OMIM:619989
HP:0011339	HP:0000219	Thin upper lip vermilion	1	TLK2 CL E G H	11011	11842	OMIM:618050	Mental retardation, autosomal dominant 57		1
HP:0011339	HP:0000219	Thin upper lip vermilion	1	TMEM147 CL E G H	10430	30414	OMIM:620075
HP:0011339	HP:0010804	Tented upper lip vermilion	1	TMEM147 CL E G H	10430	30414	OMIM:620075
HP:0011339	HP:0010804	Tented upper lip vermilion	1	TMEM237 CL E G H	65062	14432	OMIM:614424	Joubert syndrome 14	.	82
HP:0011339	HP:0000215	Thick upper lip vermilion	1	TMEM53 CL E G H	79639	26186	OMIM:619727	CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE; CTDI
HP:0011339	HP:0000219	Thin upper lip vermilion	1	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies	.	1
HP:0011339	HP:0002263	Exaggerated cupid's bow	1	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies		1
HP:0011339	HP:0000219	Thin upper lip vermilion	1	TNRC6B CL E G H	23112	29190	OMIM:619243	GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES; GDSBA
HP:0011339	HP:0000215	Thick upper lip vermilion	1	TOE1 CL E G H	114034	15954	ORPHA:284339	Pontocerebellar hypoplasia type 7	HP:0040282 - Frequent	6
HP:0011339	HP:0000215	Thick upper lip vermilion	1	TOE1 CL E G H	114034	15954	OMIM:614969	Pontocerebellar hypoplasia, type 7	.	6
HP:0011339	HP:0000219	Thin upper lip vermilion	1	TRAPPC10 CL E G H	7109	11868	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent	1
HP:0011339	HP:0000219	Thin upper lip vermilion	1	TRAPPC14 CL E G H	55262	25604	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent
HP:0011339	HP:0000219	Thin upper lip vermilion	1	TRAPPC9 CL E G H	83696	30832	ORPHA:352530	Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome	HP:0040281 - Very frequent	158
HP:0011339	HP:0000219	Thin upper lip vermilion	1	TRIO CL E G H	7204	12303	OMIM:617061	Mental retardation, autosomal dominant 44		8
HP:0011339	HP:0000219	Thin upper lip vermilion	1	TRIP12 CL E G H	9320	12306	OMIM:617752	Mental retardation, autosomal dominant 49		2
HP:0011339	HP:0002263	Exaggerated cupid's bow	1	TRIP12 CL E G H	9320	12306	OMIM:617752	Mental retardation, autosomal dominant 49		2
HP:0011339	HP:0000219	Thin upper lip vermilion	1	TRMT10A CL E G H	93587	28403	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome	HP:0040283 - Occasional	7
HP:0011339	HP:0000219	Thin upper lip vermilion	1	TRPS1 CL E G H	7227	12340	ORPHA:502	Trichorhinophalangeal syndrome type 2	HP:0040281 - Very frequent	171
HP:0011339	HP:0000219	Thin upper lip vermilion	1	TRPS1 CL E G H	7227	12340	OMIM:190350	Trichorhinophalangeal syndrome, type I	.	171
HP:0011339	HP:0000219	Thin upper lip vermilion	1	TRPS1 CL E G H	7227	12340	OMIM:190351	Trichorhinophalangeal syndrome, type III		171
HP:0011339	HP:0000219	Thin upper lip vermilion	1	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism	.	2
HP:0011339	HP:0000219	Thin upper lip vermilion	1	TTC5 CL E G H	91875	19274	OMIM:619244	NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM; NEDCAFD
HP:0011339	HP:0010804	Tented upper lip vermilion	1	TTC5 CL E G H	91875	19274	OMIM:619244	NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM; NEDCAFD
HP:0011339	HP:0000219	Thin upper lip vermilion	1	TUBGCP2 CL E G H	10844	18599	OMIM:618737	PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES; PAMDDFS
HP:0011339	HP:0000215	Thick upper lip vermilion	1	TWIST2 CL E G H	117581	20670	OMIM:227260	FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE; FFDD3		7
HP:0011339	HP:0000219	Thin upper lip vermilion	1	UBE3B CL E G H	89910	13478	OMIM:244450	Kaufman oculocerebrofacial syndrome		13
HP:0011339	HP:0000219	Thin upper lip vermilion	1	UNC80 CL E G H	285175	26582	OMIM:616801	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2	.	23
HP:0011339	HP:0010804	Tented upper lip vermilion	1	UNC80 CL E G H	285175	26582	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome	HP:0040282 - Frequent	23
HP:0011339	HP:0000219	Thin upper lip vermilion	1	UNC80 CL E G H	285175	26582	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome	HP:0040282 - Frequent	23
HP:0011339	HP:0000219	Thin upper lip vermilion	1	USP9X CL E G H	8239	12632	ORPHA:480880	X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability	HP:0040283 - Occasional	27
HP:0011339	HP:0000219	Thin upper lip vermilion	1	VPS35L CL E G H	57020	24641	OMIM:619135	RITSCHER-SCHINZEL SYNDROME 3; RTSC3
HP:0011339	HP:0000215	Thick upper lip vermilion	1	VPS51 CL E G H	738	1172	OMIM:618606	PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13
HP:0011339	HP:0000219	Thin upper lip vermilion	1	VPS51 CL E G H	738	1172	OMIM:618606	PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13
HP:0011339	HP:0000219	Thin upper lip vermilion	1	WAC CL E G H	51322	17327	OMIM:616708	Desanto-Shinawi syndrome		20
HP:0011339	HP:0010800	Absent cupid's bow	1	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:0011339	HP:0000219	Thin upper lip vermilion	1	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:0011339	HP:0000219	Thin upper lip vermilion	1	WARS2 CL E G H	10352	12730	ORPHA:572798	WARS2-related combined oxidative phosphorylation defect	HP:0040283 - Occasional	2
HP:0011339	HP:0000219	Thin upper lip vermilion	1	WASHC4 CL E G H	23325	29174	OMIM:615817	Mental retardation, autosomal recessive 43		25
HP:0011339	HP:0000219	Thin upper lip vermilion	1	WDR19 CL E G H	57728	18340	OMIM:614376	Short-Rib thoracic dysplasia 5 with or without polydactyly	.	95
HP:0011339	HP:0010803	Everted upper lip vermilion	1	WDR26 CL E G H	80232	21208	ORPHA:513456	Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome	HP:0040281 - Very frequent	8
HP:0011339	HP:0010800	Absent cupid's bow	1	WDR26 CL E G H	80232	21208	ORPHA:513456	Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome	HP:0040282 - Frequent	8
HP:0011339	HP:0000215	Thick upper lip vermilion	1	WDR26 CL E G H	80232	21208	OMIM:617616	Skraban-Deardorff syndrome	.	8
HP:0011339	HP:0010804	Tented upper lip vermilion	1	WDR4 CL E G H	10785	12756	OMIM:618346	Microcephaly, growth deficiency, seizures, and brain malformations	.
HP:0011339	HP:0000219	Thin upper lip vermilion	1	WDR62 CL E G H	284403	24502	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040281 - Very frequent	224
HP:0011339	HP:0000219	Thin upper lip vermilion	1	WNT5A CL E G H	7474	12784	OMIM:180700	Robinow syndrome, autosomal dominant 1		98
HP:0011339	HP:0000219	Thin upper lip vermilion	1	ZBTB18 CL E G H	10472	13030	OMIM:612337	Mental retardation, autosomal dominant 22	.	16
HP:0011339	HP:0010806	U-Shaped upper lip vermilion	1	ZC4H2 CL E G H	55906	24931	OMIM:314580	Wieacker-Wolff syndrome	.	19
HP:0011339	HP:0010806	U-Shaped upper lip vermilion	1	ZC4H2 CL E G H	55906	24931	OMIM:301041	WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR		19
HP:0011339	HP:0010804	Tented upper lip vermilion	1	ZIC2 CL E G H	7546	12873	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent	34
HP:0011339	HP:0002263	Exaggerated cupid's bow	1	ZMIZ1 CL E G H	57178	16493	OMIM:618659	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA
HP:0011339	HP:0000219	Thin upper lip vermilion	1	ZNF292 CL E G H	23036	18410	OMIM:619188	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64; MRD64		3
HP:0011339	HP:0000219	Thin upper lip vermilion	1	ZNF407 CL E G H	55628	19904	OMIM:619557	SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES; SIMHA		68
HP:0011339	HP:0002263	Exaggerated cupid's bow	1	ZNF462 CL E G H	58499	21684	OMIM:618619	WEISS-KRUSZKA SYNDROME; WSKA		4
HP:0011339	HP:0000219	Thin upper lip vermilion	1	ZNF526 CL E G H	116115	29415	OMIM:619877			24
HP:0011339	HP:0010804	Tented upper lip vermilion	1	ZNHIT3 CL E G H	9326	12309	OMIM:260565	Peho syndrome		1
HP:0011339	HP:0010806	U-Shaped upper lip vermilion	1	ZSWIM6 CL E G H	57688	29316	OMIM:603671	Acromelic frontonasal dysostosis	HP:0040283 - Occasional	5