Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormal lip morphology (HP:0000159)

Parent Node:
Abnormal lower lip morphology (HP:0000178)

Parent Node:
Eclabion (HP:0012472)

..Starting node
..Everted lower lip vermilion (HP:0000232)

Term ID:

232

Name:

Everted lower lip vermilion

Synonym:

Drooping lower lip; Eclabium of lower lip; Everted lower lip; Everted prominent lower lip; Outward turned lower lip; Protruding lower lip

Definition:

An abnormal configuration of the lower lip such that it is turned outward i.e., everted, with the Inner aspect of the lower lip vermilion (normally opposing the teeth) being visible in a frontal view.

Comments:

Reference:

HP:0000232

Genes and Diseases:

Child Nodes:

Sister Nodes:

Everted upper lip vermilion (HP:0010803)

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:0000232	HP:0000232	Everted lower lip vermilion	0	ABCA12 CL E G H	26154	14637	OMIM:242500	Ichthyosis, congenital, autosomal recessive 4B	.	130
HP:0000232	HP:0000232	Everted lower lip vermilion	0	ABCA12 CL E G H	26154	14637	ORPHA:313	Lamellar ichthyosis	HP:0040282 - Frequent	130
HP:0000232	HP:0000232	Everted lower lip vermilion	0	ABHD5 CL E G H	51099	21396	OMIM:275630	Chanarin-Dorfman syndrome	.	90
HP:0000232	HP:0000232	Everted lower lip vermilion	0	ADAMTS2 CL E G H	9509	218	OMIM:225410	Ehlers-Danlos syndrome, type VII, autosomal recessive	.	165
HP:0000232	HP:0000232	Everted lower lip vermilion	0	ADNP CL E G H	23394	15766	OMIM:615873	Helsmoortel-van der Aa syndrome		47
HP:0000232	HP:0000232	Everted lower lip vermilion	0	ALOX12B CL E G H	242	430	OMIM:242100	Ichthyosis, congenital, autosomal recessive 2	HP:0040283 - Occasional	75
HP:0000232	HP:0000232	Everted lower lip vermilion	0	ALOX12B CL E G H	242	430	ORPHA:313	Lamellar ichthyosis	HP:0040282 - Frequent	75
HP:0000232	HP:0000232	Everted lower lip vermilion	0	ALOXE3 CL E G H	59344	13743	OMIM:242100	Ichthyosis, congenital, autosomal recessive 2	HP:0040283 - Occasional	63
HP:0000232	HP:0000232	Everted lower lip vermilion	0	ALOXE3 CL E G H	59344	13743	ORPHA:313	Lamellar ichthyosis	HP:0040282 - Frequent	63
HP:0000232	HP:0000232	Everted lower lip vermilion	0	ANTXR1 CL E G H	84168	21014	ORPHA:2067	GAPO syndrome	HP:0040281 - Very frequent	8
HP:0000232	HP:0000232	Everted lower lip vermilion	0	ASPRV1 CL E G H	151516	26321	ORPHA:313	Lamellar ichthyosis	HP:0040282 - Frequent	1
HP:0000232	HP:0000232	Everted lower lip vermilion	0	ASXL3 CL E G H	80816	29357	ORPHA:352577	Bainbridge-Ropers syndrome	HP:0040283 - Occasional	49
HP:0000232	HP:0000232	Everted lower lip vermilion	0	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS		49
HP:0000232	HP:0000232	Everted lower lip vermilion	0	ATRX CL E G H	546	886	ORPHA:847	Alpha-thalassemia-X-linked intellectual disability syndrome	HP:0040282 - Frequent	169
HP:0000232	HP:0000232	Everted lower lip vermilion	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000232	HP:0000232	Everted lower lip vermilion	0	BCAS3 CL E G H	54828	14347	OMIM:619641	HENGEL-MAROOFIAN-SCHOLS SYNDROME; HEMARS		2
HP:0000232	HP:0000232	Everted lower lip vermilion	0	BCL11A CL E G H	53335	13221	OMIM:617101	Intellectual developmental disorder with persistence of fetal hemoglobin	.	11
HP:0000232	HP:0000232	Everted lower lip vermilion	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000232	HP:0000232	Everted lower lip vermilion	0	BDNF CL E G H	627	1033	ORPHA:893	WAGR syndrome	HP:0040282 - Frequent	5
HP:0000232	HP:0000232	Everted lower lip vermilion	0	BMP2 CL E G H	650	1069	OMIM:617877	Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies	.	13
HP:0000232	HP:0000232	Everted lower lip vermilion	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000232	HP:0000232	Everted lower lip vermilion	0	CCDC8 CL E G H	83987	25367	ORPHA:2616	3M syndrome	HP:0040281 - Very frequent	5
HP:0000232	HP:0000232	Everted lower lip vermilion	0	CDH11 CL E G H	1009	1750	OMIM:619736	TEEBI HYPERTELORISM SYNDROME 2; TBHS2		2
HP:0000232	HP:0000232	Everted lower lip vermilion	0	CDKL5 CL E G H	6792	11411	ORPHA:505652	CDKL5-deficiency disorder	HP:0040282 - Frequent	405
HP:0000232	HP:0000232	Everted lower lip vermilion	0	CHAMP1 CL E G H	283489	20311	OMIM:616579	Mental retardation, autosomal dominant 40	.	16
HP:0000232	HP:0000232	Everted lower lip vermilion	0	CHN1 CL E G H	1123	1943	ORPHA:233	Duane retraction syndrome	HP:0040283 - Occasional	35
HP:0000232	HP:0000232	Everted lower lip vermilion	0	CLIC2 CL E G H	1193	2063	ORPHA:324410	X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome	HP:0040283 - Occasional	4
HP:0000232	HP:0000232	Everted lower lip vermilion	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000232	HP:0000232	Everted lower lip vermilion	0	CUL7 CL E G H	9820	21024	ORPHA:2616	3M syndrome	HP:0040281 - Very frequent	127
HP:0000232	HP:0000232	Everted lower lip vermilion	0	CYP4F22 CL E G H	126410	26820	ORPHA:313	Lamellar ichthyosis	HP:0040282 - Frequent	54
HP:0000232	HP:0000232	Everted lower lip vermilion	0	DHX30 CL E G H	22907	16716	OMIM:617804	Neurodevelopmental disorder with severe motor impairment and absent language	.	4
HP:0000232	HP:0000232	Everted lower lip vermilion	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000232	HP:0000232	Everted lower lip vermilion	0	DOCK7 CL E G H	85440	19190	ORPHA:411986	Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome	HP:0040283 - Occasional	11
HP:0000232	HP:0000232	Everted lower lip vermilion	0	EDA CL E G H	1896	3157	OMIM:305100	Ectodermal dysplasia 1, hypohidrotic, X-linked	.	115
HP:0000232	HP:0000232	Everted lower lip vermilion	0	EDA CL E G H	1896	3157	ORPHA:181	X-linked hypohidrotic ectodermal dysplasia	HP:0040281 - Very frequent	115
HP:0000232	HP:0000232	Everted lower lip vermilion	0	EDA2R CL E G H	60401	17756	ORPHA:181	X-linked hypohidrotic ectodermal dysplasia	HP:0040281 - Very frequent	11
HP:0000232	HP:0000232	Everted lower lip vermilion	0	EDAR CL E G H	10913	2895	OMIM:224900	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive	.	86
HP:0000232	HP:0000232	Everted lower lip vermilion	0	EDARADD CL E G H	128178	14341	OMIM:224900	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive	.	56
HP:0000232	HP:0000232	Everted lower lip vermilion	0	EDARADD CL E G H	128178	14341	OMIM:614940	Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant	.	56
HP:0000232	HP:0000232	Everted lower lip vermilion	0	EDARADD CL E G H	128178	14341	OMIM:614941	Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive	.	56
HP:0000232	HP:0000232	Everted lower lip vermilion	0	EDNRA CL E G H	1909	3179	OMIM:616367	Mandibulofacial dysostosis with alopecia	.	3
HP:0000232	HP:0000232	Everted lower lip vermilion	0	EEF1A2 CL E G H	1917	3192	OMIM:616393	Mental retardation, autosomal dominant 38	.	60
HP:0000232	HP:0000232	Everted lower lip vermilion	0	EHMT1 CL E G H	79813	24650	OMIM:610253	Kleefstra syndrome		223
HP:0000232	HP:0000232	Everted lower lip vermilion	0	EHMT1 CL E G H	79813	24650	ORPHA:96147	Kleefstra syndrome due to 9q34 microdeletion	HP:0040281 - Very frequent	223
HP:0000232	HP:0000232	Everted lower lip vermilion	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000232	HP:0000232	Everted lower lip vermilion	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	172
HP:0000232	HP:0000232	Everted lower lip vermilion	0	ERCC1 CL E G H	2067	3433	ORPHA:1466	COFS syndrome	HP:0040281 - Very frequent	20
HP:0000232	HP:0000232	Everted lower lip vermilion	0	ERCC2 CL E G H	2068	3434	ORPHA:1466	COFS syndrome	HP:0040281 - Very frequent	106
HP:0000232	HP:0000232	Everted lower lip vermilion	0	ERCC5 CL E G H	2073	3437	ORPHA:1466	COFS syndrome	HP:0040281 - Very frequent	83
HP:0000232	HP:0000232	Everted lower lip vermilion	0	ERCC6 CL E G H	2074	3438	ORPHA:1466	COFS syndrome	HP:0040281 - Very frequent	199
HP:0000232	HP:0000232	Everted lower lip vermilion	0	FBXL4 CL E G H	26235	13601	OMIM:615471	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)	.	384
HP:0000232	HP:0000232	Everted lower lip vermilion	0	FBXO11 CL E G H	80204	13590	OMIM:618089	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	.	7
HP:0000232	HP:0000232	Everted lower lip vermilion	0	FGD1 CL E G H	2245	3663	ORPHA:915	Aarskog-Scott syndrome	HP:0040281 - Very frequent	62
HP:0000232	HP:0000232	Everted lower lip vermilion	0	FHL1 CL E G H	2273	3702	OMIM:300280	Uruguay faciocardiomusculoskeletal syndrome	.	68
HP:0000232	HP:0000232	Everted lower lip vermilion	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000232	HP:0000232	Everted lower lip vermilion	0	FOXC1 CL E G H	2296	3800	ORPHA:782	Axenfeld-Rieger syndrome	HP:0040282 - Frequent	63
HP:0000232	HP:0000232	Everted lower lip vermilion	0	FOXG1 CL E G H	2290	3811	ORPHA:261144	FOXG1 syndrome due to 14q12 microdeletion	HP:0040281 - Very frequent	177
HP:0000232	HP:0000232	Everted lower lip vermilion	0	FRMD4A CL E G H	55691	25491	OMIM:616819	Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia		1
HP:0000232	HP:0000232	Everted lower lip vermilion	0	GBA1 CL E G H	2629	4177	OMIM:608013	Gaucher disease, perinatal lethal	.
HP:0000232	HP:0000232	Everted lower lip vermilion	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0000232	HP:0000232	Everted lower lip vermilion	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0000232	HP:0000232	Everted lower lip vermilion	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0000232	HP:0000232	Everted lower lip vermilion	0	H3-3A CL E G H	3020	4764	OMIM:619720	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0000232	HP:0000232	Everted lower lip vermilion	0	HGSNAT CL E G H	138050	26527	OMIM:252930	Mucopolysaccharidosis type IIIC	.	86
HP:0000232	HP:0000232	Everted lower lip vermilion	0	HRAS CL E G H	3265	5173	OMIM:137550	Melanocytic nevus syndrome, congenital	.	113
HP:0000232	HP:0000232	Everted lower lip vermilion	0	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome	HP:0040281 - Very frequent	345
HP:0000232	HP:0000232	Everted lower lip vermilion	0	IDUA CL E G H	3425	5391	ORPHA:93473	Hurler syndrome	HP:0040282 - Frequent	115
HP:0000232	HP:0000232	Everted lower lip vermilion	0	IDUA CL E G H	3425	5391	ORPHA:93474	Scheie syndrome	HP:0040282 - Frequent	115
HP:0000232	HP:0000232	Everted lower lip vermilion	0	IFT122 CL E G H	55764	13556	OMIM:218330	Cranioectodermal dysplasia	.	93
HP:0000232	HP:0000232	Everted lower lip vermilion	0	IFT122 CL E G H	55764	13556	ORPHA:1515	Cranioectodermal dysplasia	HP:0040282 - Frequent	93
HP:0000232	HP:0000232	Everted lower lip vermilion	0	IFT43 CL E G H	112752	29669	ORPHA:1515	Cranioectodermal dysplasia	HP:0040282 - Frequent	11
HP:0000232	HP:0000232	Everted lower lip vermilion	0	IFT43 CL E G H	112752	29669	OMIM:614099	Cranioectodermal dysplasia 3	HP:0040283 - Occasional	11
HP:0000232	HP:0000232	Everted lower lip vermilion	0	IFT52 CL E G H	51098	15901	ORPHA:1515	Cranioectodermal dysplasia	HP:0040282 - Frequent	4
HP:0000232	HP:0000232	Everted lower lip vermilion	0	IGF1R CL E G H	3480	5465	ORPHA:73273	Growth delay due to insulin-like growth factor I resistance	HP:0040282 - Frequent	268
HP:0000232	HP:0000232	Everted lower lip vermilion	0	IRX5 CL E G H	10265	14361	OMIM:611174	Hamamy syndrome		4
HP:0000232	HP:0000232	Everted lower lip vermilion	0	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome	HP:0040282 - Frequent	283
HP:0000232	HP:0000232	Everted lower lip vermilion	0	KANSL1 CL E G H	284058	24565	OMIM:610443	Koolen-De Vries syndrome		283
HP:0000232	HP:0000232	Everted lower lip vermilion	0	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation	HP:0040282 - Frequent	283
HP:0000232	HP:0000232	Everted lower lip vermilion	0	KCNH1 CL E G H	3756	6250	ORPHA:420561	Temple-Baraitser syndrome	HP:0040283 - Occasional	13
HP:0000232	HP:0000232	Everted lower lip vermilion	0	KCNMA1 CL E G H	3778	6284	OMIM:618729	LIANG-WANG SYNDROME; LIWAS		114
HP:0000232	HP:0000232	Everted lower lip vermilion	0	KIFBP CL E G H	26128	23419	OMIM:609460	Goldberg-Shprintzen syndrome	.
HP:0000232	HP:0000232	Everted lower lip vermilion	0	KMT2C CL E G H	58508	13726	OMIM:617768	Kleefstra syndrome 2		99
HP:0000232	HP:0000232	Everted lower lip vermilion	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000232	HP:0000232	Everted lower lip vermilion	0	LIPN CL E G H	643418	23452	ORPHA:313	Lamellar ichthyosis	HP:0040282 - Frequent	1
HP:0000232	HP:0000232	Everted lower lip vermilion	0	MAFB CL E G H	9935	6408	ORPHA:233	Duane retraction syndrome	HP:0040283 - Occasional	63
HP:0000232	HP:0000232	Everted lower lip vermilion	0	MBD5 CL E G H	55777	20444	ORPHA:228402	2q23.1 microdeletion syndrome	HP:0040282 - Frequent	252
HP:0000232	HP:0000232	Everted lower lip vermilion	0	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1		252
HP:0000232	HP:0000232	Everted lower lip vermilion	0	MCOLN1 CL E G H	57192	13356	ORPHA:578	Mucolipidosis type IV	HP:0040283 - Occasional	78
HP:0000232	HP:0000232	Everted lower lip vermilion	0	MDH1 CL E G H	4190	6970	OMIM:618959	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 88; DEE88
HP:0000232	HP:0000232	Everted lower lip vermilion	0	MECP2 CL E G H	4204	6990	ORPHA:1762	Proximal Xq28 duplication syndrome	HP:0040281 - Very frequent	950
HP:0000232	HP:0000232	Everted lower lip vermilion	0	MED12L CL E G H	116931	16050	OMIM:618872	NIZON-ISIDOR SYNDROME; NIZIDS
HP:0000232	HP:0000232	Everted lower lip vermilion	0	MED13L CL E G H	23389	22962	OMIM:616789	Mental retardation and distinctive facial features with or without cardiac defects		74
HP:0000232	HP:0000232	Everted lower lip vermilion	0	MED25 CL E G H	81857	28845	OMIM:616449	Basel-Vanagaite-Smirin-Yosef syndrome	.	43
HP:0000232	HP:0000232	Everted lower lip vermilion	0	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome	HP:0040282 - Frequent	43
HP:0000232	HP:0000232	Everted lower lip vermilion	0	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0000232	HP:0000232	Everted lower lip vermilion	0	MGAT2 CL E G H	4247	7045	OMIM:212066	Congenital disorder of glycosylation, type IIa	.	39
HP:0000232	HP:0000232	Everted lower lip vermilion	0	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0000232	HP:0000232	Everted lower lip vermilion	0	MSX1 CL E G H	4487	7391	ORPHA:2228	Hypodontia-dysplasia of nails syndrome	HP:0040282 - Frequent	12
HP:0000232	HP:0000232	Everted lower lip vermilion	0	MYCN CL E G H	4613	7559	OMIM:164280	Feingold syndrome 1	.	35
HP:0000232	HP:0000232	Everted lower lip vermilion	0	MYO18B CL E G H	84700	18150	OMIM:616549	Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism		5
HP:0000232	HP:0000232	Everted lower lip vermilion	0	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	13
HP:0000232	HP:0000232	Everted lower lip vermilion	0	NFIX CL E G H	4784	7788	OMIM:614753	Sotos syndrome 2	.	40
HP:0000232	HP:0000232	Everted lower lip vermilion	0	NIPAL4 CL E G H	348938	28018	ORPHA:313	Lamellar ichthyosis	HP:0040282 - Frequent	60
HP:0000232	HP:0000232	Everted lower lip vermilion	0	NRAS CL E G H	4893	7989	OMIM:137550	Melanocytic nevus syndrome, congenital	.	102
HP:0000232	HP:0000232	Everted lower lip vermilion	0	OBSL1 CL E G H	23363	29092	ORPHA:2616	3M syndrome	HP:0040281 - Very frequent	143
HP:0000232	HP:0000232	Everted lower lip vermilion	0	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe	HP:0040283 - Occasional	88
HP:0000232	HP:0000232	Everted lower lip vermilion	0	PAX6 CL E G H	5080	8620	ORPHA:893	WAGR syndrome	HP:0040282 - Frequent	194
HP:0000232	HP:0000232	Everted lower lip vermilion	0	PCDHGC4 CL E G H	56098	8717	OMIM:619880
HP:0000232	HP:0000232	Everted lower lip vermilion	0	PITX2 CL E G H	5308	9005	ORPHA:782	Axenfeld-Rieger syndrome	HP:0040282 - Frequent	51
HP:0000232	HP:0000232	Everted lower lip vermilion	0	PLXND1 CL E G H	23129	9107	ORPHA:570	Moebius syndrome	HP:0040282 - Frequent
HP:0000232	HP:0000232	Everted lower lip vermilion	0	POMGNT1 CL E G H	55624	19139	OMIM:253280	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3		180
HP:0000232	HP:0000232	Everted lower lip vermilion	0	PUS7 CL E G H	54517	26033	OMIM:618342	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature	.
HP:0000232	HP:0000232	Everted lower lip vermilion	0	QRICH1 CL E G H	54870	24713	OMIM:617982	VERVERI-BRADY SYNDROME; VERBRAS
HP:0000232	HP:0000232	Everted lower lip vermilion	0	RAB3GAP1 CL E G H	22930	17063	ORPHA:1387	Cataract-intellectual disability-hypogonadism syndrome	HP:0040281 - Very frequent	90
HP:0000232	HP:0000232	Everted lower lip vermilion	0	RAB3GAP2 CL E G H	25782	17168	ORPHA:1387	Cataract-intellectual disability-hypogonadism syndrome	HP:0040281 - Very frequent	135
HP:0000232	HP:0000232	Everted lower lip vermilion	0	REV3L CL E G H	5980	9968	ORPHA:570	Moebius syndrome	HP:0040282 - Frequent	3
HP:0000232	HP:0000232	Everted lower lip vermilion	0	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000232	HP:0000232	Everted lower lip vermilion	0	RPL10 CL E G H	6134	10298	ORPHA:459070	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome	HP:0040283 - Occasional	10
HP:0000232	HP:0000232	Everted lower lip vermilion	0	RPS6KA3 CL E G H	6197	10432	OMIM:303600	Coffin-Lowry syndrome	.	65
HP:0000232	HP:0000232	Everted lower lip vermilion	0	RPS6KA3 CL E G H	6197	10432	ORPHA:192	Coffin-Lowry syndrome	HP:0040281 - Very frequent	65
HP:0000232	HP:0000232	Everted lower lip vermilion	0	RPS6KA3 CL E G H	6197	10432	OMIM:300844	MENTAL RETARDATION, X-LINKED 19; MRX19		65
HP:0000232	HP:0000232	Everted lower lip vermilion	0	RPS6KA3 CL E G H	6197	10432	ORPHA:276630	Symptomatic form of Coffin-Lowry syndrome in female carriers	HP:0040283 - Occasional	65
HP:0000232	HP:0000232	Everted lower lip vermilion	0	SALL4 CL E G H	57167	15924	ORPHA:233	Duane retraction syndrome	HP:0040283 - Occasional	86
HP:0000232	HP:0000232	Everted lower lip vermilion	0	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome	.	11
HP:0000232	HP:0000232	Everted lower lip vermilion	0	SDR9C7 CL E G H	121214	29958	ORPHA:313	Lamellar ichthyosis	HP:0040282 - Frequent	2
HP:0000232	HP:0000232	Everted lower lip vermilion	0	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome	.
HP:0000232	HP:0000232	Everted lower lip vermilion	0	SLC25A24 CL E G H	29957	20662	ORPHA:2963	Progeroid syndrome, Petty type	HP:0040281 - Very frequent
HP:0000232	HP:0000232	Everted lower lip vermilion	0	SMARCA2 CL E G H	6595	11098	ORPHA:3051	Nicolaides-Baraitser syndrome	HP:0040281 - Very frequent	146
HP:0000232	HP:0000232	Everted lower lip vermilion	0	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome	.	146
HP:0000232	HP:0000232	Everted lower lip vermilion	0	SMG9 CL E G H	56006	25763	OMIM:616920	Heart and brain malformation syndrome		2
HP:0000232	HP:0000232	Everted lower lip vermilion	0	SMS CL E G H	6611	11123	ORPHA:3063	X-linked intellectual disability, Snyder type	HP:0040284 - Very rare	19
HP:0000232	HP:0000232	Everted lower lip vermilion	0	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation	HP:0040283 - Occasional	37
HP:0000232	HP:0000232	Everted lower lip vermilion	0	SOX11 CL E G H	6664	11191	OMIM:615866	Mental retardation, autosomal dominant 27	.	14
HP:0000232	HP:0000232	Everted lower lip vermilion	0	SPECC1L CL E G H	23384	29022	ORPHA:1519	SPECC1L-related hypertelorism syndrome	HP:0040282 - Frequent	6
HP:0000232	HP:0000232	Everted lower lip vermilion	0	SRCAP CL E G H	10847	16974	OMIM:619595	DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES; DEHMBA		138
HP:0000232	HP:0000232	Everted lower lip vermilion	0	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000232	HP:0000232	Everted lower lip vermilion	0	SULT2B1 CL E G H	6820	11459	ORPHA:313	Lamellar ichthyosis	HP:0040282 - Frequent	4
HP:0000232	HP:0000232	Everted lower lip vermilion	0	TBC1D24 CL E G H	57465	29203	OMIM:220500	Doors syndrome	.	271
HP:0000232	HP:0000232	Everted lower lip vermilion	0	TBL1XR1 CL E G H	79718	29529	ORPHA:487825	Pierpont syndrome	HP:0040281 - Very frequent	22
HP:0000232	HP:0000232	Everted lower lip vermilion	0	TBL1XR1 CL E G H	79718	29529	OMIM:602342	Pierpont syndrome	.	22
HP:0000232	HP:0000232	Everted lower lip vermilion	0	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000232	HP:0000232	Everted lower lip vermilion	0	TFAP2A CL E G H	7020	11742	ORPHA:1297	Branchio-oculo-facial syndrome	HP:0040281 - Very frequent	12
HP:0000232	HP:0000232	Everted lower lip vermilion	0	TFAP2B CL E G H	7021	11743	ORPHA:46627	Char syndrome	HP:0040281 - Very frequent	104
HP:0000232	HP:0000232	Everted lower lip vermilion	0	TFE3 CL E G H	7030	11752	OMIM:301066	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0000232	HP:0000232	Everted lower lip vermilion	0	TGM1 CL E G H	7051	11777	OMIM:242300	Ichthyosis, congenital, autosomal recessive 1	.	98
HP:0000232	HP:0000232	Everted lower lip vermilion	0	TGM1 CL E G H	7051	11777	ORPHA:313	Lamellar ichthyosis	HP:0040282 - Frequent	98
HP:0000232	HP:0000232	Everted lower lip vermilion	0	TMEM147 CL E G H	10430	30414	OMIM:620075
HP:0000232	HP:0000232	Everted lower lip vermilion	0	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000232	HP:0000232	Everted lower lip vermilion	0	TNPO2 CL E G H	30000	19998	OMIM:619556	INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND DYSMORPHIC FACIES; IDDHISD
HP:0000232	HP:0000232	Everted lower lip vermilion	0	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0000232	HP:0000232	Everted lower lip vermilion	0	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000232	HP:0000232	Everted lower lip vermilion	0	WDR19 CL E G H	57728	18340	ORPHA:1515	Cranioectodermal dysplasia	HP:0040282 - Frequent	95
HP:0000232	HP:0000232	Everted lower lip vermilion	0	WDR35 CL E G H	57539	29250	ORPHA:1515	Cranioectodermal dysplasia	HP:0040282 - Frequent	136
HP:0000232	HP:0000232	Everted lower lip vermilion	0	WDR35 CL E G H	57539	29250	OMIM:613610	Cranioectodermal dysplasia 2	.	136
HP:0000232	HP:0000232	Everted lower lip vermilion	0	WT1 CL E G H	7490	12796	ORPHA:893	WAGR syndrome	HP:0040282 - Frequent	177
HP:0000232	HP:0000232	Everted lower lip vermilion	0	ZSWIM6 CL E G H	57688	29316	OMIM:617865	Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features	.	5

Genes (133) :ABCA12 ABHD5 ADAMTS2 ADNP ALOX12B ALOXE3 ANTXR1 ASPRV1 ASXL3 ATRX BAZ1B BCAS3 BCL11A BCL7B BDNF BMP2 BUD23 CCDC8 CDH11 CDKL5 CHAMP1 CHN1 CLIC2 CLIP2 CUL7 CYP4F22 DHX30 DNAJC30 DOCK7 EDA EDA2R EDAR EDARADD EDNRA EEF1A2 EHMT1 EIF4H ELN ERCC1 ERCC2 ERCC5 ERCC6 FBXL4 FBXO11 FGD1 FHL1 FKBP6 FOXC1 FOXG1 FRMD4A GBA1 GTF2I GTF2IRD1 GTF2IRD2 H3-3A HGSNAT HRAS HSPG2 IDUA IFT122 IFT43 IFT52 IGF1R IRX5 KANSL1 KCNH1 KCNMA1 KIFBP KMT2C LIMK1 LIPN MAFB MBD5 MCOLN1 MDH1 MECP2 MED12L MED13L MED25 METTL27 MGAT2 MLXIPL MSX1 MYCN MYO18B NCF1 NFIX NIPAL4 NRAS OBSL1 OCRL PAX6 PCDHGC4 PITX2 PLXND1 POMGNT1 PUS7 QRICH1 RAB3GAP1 RAB3GAP2 REV3L RFC2 RPL10 RPS6KA3 SALL4 SCARF2 SDR9C7 SLC25A24 SMARCA2 SMG9 SMS SNRPN SOX11 SPECC1L SRCAP STX1A SULT2B1 TBC1D24 TBL1XR1 TBL2 TFAP2A TFAP2B TFE3 TGM1 TMEM147 TMEM270 TNPO2 TTC26 VPS37D WDR19 WDR35 WT1 ZSWIM6

Diseases (108) :OMIM:242500 ORPHA:313 OMIM:275630 OMIM:225410 OMIM:615873 OMIM:242100 ORPHA:2067 ORPHA:352577 OMIM:615485 ORPHA:847 ORPHA:904 OMIM:619641 OMIM:617101 ORPHA:893 OMIM:617877 ORPHA:2616 OMIM:619736 ORPHA:505652 OMIM:616579 ORPHA:233 ORPHA:324410 OMIM:617804 ORPHA:411986 OMIM:305100 ORPHA:181 OMIM:224900 OMIM:614940 OMIM:614941 OMIM:616367 OMIM:616393 OMIM:610253 ORPHA:96147 ORPHA:1466 OMIM:615471 OMIM:618089 ORPHA:915 OMIM:300280 ORPHA:782 ORPHA:261144 OMIM:616819 OMIM:608013 OMIM:619720 OMIM:252930 OMIM:137550 ORPHA:800 ORPHA:93473 ORPHA:93474 OMIM:218330 ORPHA:1515 OMIM:614099 ORPHA:73273 OMIM:611174 ORPHA:363958 OMIM:610443 ORPHA:363965 ORPHA:420561 OMIM:618729 OMIM:609460 OMIM:617768 ORPHA:228402 OMIM:156200 ORPHA:578 OMIM:618959 ORPHA:1762 OMIM:618872 OMIM:616789 OMIM:616449 ORPHA:464738 OMIM:212066 ORPHA:2228 OMIM:164280 OMIM:616549 OMIM:614753 ORPHA:534 OMIM:619880 ORPHA:570 OMIM:253280 OMIM:618342 OMIM:617982 ORPHA:1387 ORPHA:459070 OMIM:303600 ORPHA:192 OMIM:300844 ORPHA:276630 OMIM:600920 OMIM:612289 ORPHA:2963 ORPHA:3051 OMIM:601358 OMIM:616920 ORPHA:3063 ORPHA:177907 OMIM:615866 ORPHA:1519 OMIM:619595 OMIM:220500 ORPHA:487825 OMIM:602342 ORPHA:1297 ORPHA:46627 OMIM:301066 OMIM:242300 OMIM:620075 OMIM:619556 OMIM:619534 OMIM:613610 OMIM:617865

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

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