Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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:
Thick vermilion border (HP:0012471)

..Starting node
..Thick lower lip vermilion (HP:0000179)

Term ID:

179

Name:

Thick lower lip vermilion

Synonym:

Full lower lip; Full lower lip vermilion; Increased height of lower lip vermilion; Increased volume of lower lip; Increased volume of lower lip vermilion; Plump lower lip; Prominent lower lip; Prominent lower lip vermilion; Thick lower lip; Thick red part of the lower lip; Thick vermilion border of lower lip

Definition:

Increased thickness of the lower lip, leading to a prominent appearance of the lower lip. The height of the vermilion of the lower lip in the midline is more than 2 SD above the mean. Alternatively, an apparently increased height of the vermilion of the lower lip in the frontal view (subjective).

Comments:

Reference:

HP:0000179

Genes and Diseases:

Child Nodes:

Sister Nodes:

Thick upper lip vermilion (HP:0000215)

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:0000179	HP:0000179	Thick lower lip vermilion	0	ABCC9 CL E G H	10060	60	OMIM:239850	Hypertrichotic osteochondrodysplasia	.	254
HP:0000179	HP:0000179	Thick lower lip vermilion	0	ACER3 CL E G H	55331	16066	OMIM:617762	Leukodystrophy, progressive, early childhood-onset	.
HP:0000179	HP:0000179	Thick lower lip vermilion	0	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome	HP:0040283 - Occasional	47
HP:0000179	HP:0000179	Thick lower lip vermilion	0	ADNP CL E G H	23394	15766	OMIM:615873	Helsmoortel-van der Aa syndrome		47
HP:0000179	HP:0000179	Thick lower lip vermilion	0	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS		1
HP:0000179	HP:0000179	Thick lower lip vermilion	0	AGA CL E G H	175	318	OMIM:208400	ASPARTYLGLUCOSAMINURIA	.	76
HP:0000179	HP:0000179	Thick lower lip vermilion	0	AIP CL E G H	9049	358	ORPHA:963	Acromegaly	HP:0040281 - Very frequent	95
HP:0000179	HP:0000179	Thick lower lip vermilion	0	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis	.	34
HP:0000179	HP:0000179	Thick lower lip vermilion	0	ANTXR1 CL E G H	84168	21014	OMIM:230740	Gapo syndrome	.	8
HP:0000179	HP:0000179	Thick lower lip vermilion	0	AP2M1 CL E G H	1173	564	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040284 - Very rare
HP:0000179	HP:0000179	Thick lower lip vermilion	0	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome	HP:0040281 - Very frequent	88
HP:0000179	HP:0000179	Thick lower lip vermilion	0	ARID1A CL E G H	8289	11110	OMIM:614607	Coffin-Siris syndrome 2		88
HP:0000179	HP:0000179	Thick lower lip vermilion	0	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome	HP:0040281 - Very frequent	219
HP:0000179	HP:0000179	Thick lower lip vermilion	0	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1	.	219
HP:0000179	HP:0000179	Thick lower lip vermilion	0	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome	HP:0040281 - Very frequent	25
HP:0000179	HP:0000179	Thick lower lip vermilion	0	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome	HP:0040282 - Frequent	5
HP:0000179	HP:0000179	Thick 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:0000179	HP:0000179	Thick lower lip vermilion	0	ATRX CL E G H	546	886	OMIM:301040	Alpha-Thalassemia/mental retardation syndrome, X-linked	.	169
HP:0000179	HP:0000179	Thick lower lip vermilion	0	ATRX CL E G H	546	886	OMIM:309580	Mental retardation-hypotonic facies syndrome, X-linked, 1	.	169
HP:0000179	HP:0000179	Thick lower lip vermilion	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000179	HP:0000179	Thick lower lip vermilion	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000179	HP:0000179	Thick lower lip vermilion	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000179	HP:0000179	Thick lower lip vermilion	0	C12ORF57 CL E G H	113246	29521	ORPHA:1777	Temtamy syndrome	HP:0040283 - Occasional	13
HP:0000179	HP:0000179	Thick lower lip vermilion	0	CA2 CL E G H	760	1373	ORPHA:2785	Osteopetrosis with renal tubular acidosis		29
HP:0000179	HP:0000179	Thick lower lip vermilion	0	CAMTA1 CL E G H	23261	18806	OMIM:614756	Cerebellar ataxia, nonprogressive, with mental retardation	.	34
HP:0000179	HP:0000179	Thick lower lip vermilion	0	CAMTA1 CL E G H	23261	18806	ORPHA:314647	Non-progressive cerebellar ataxia with intellectual disability	HP:0040282 - Frequent	34
HP:0000179	HP:0000179	Thick lower lip vermilion	0	CBL CL E G H	867	1541	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	317
HP:0000179	HP:0000179	Thick lower lip vermilion	0	CDH11 CL E G H	1009	1750	OMIM:211380	Elsahy-Waters syndrome	.	2
HP:0000179	HP:0000179	Thick lower lip vermilion	0	CDKL5 CL E G H	6792	11411	OMIM:300672	Developmental and epileptic encephalopathy 2	.	405
HP:0000179	HP:0000179	Thick lower lip vermilion	0	CDT1 CL E G H	81620	24576	OMIM:613804	Meier-Gorlin syndrome 4	.	50
HP:0000179	HP:0000179	Thick lower lip vermilion	0	CHD2 CL E G H	1106	1917	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040284 - Very rare	227
HP:0000179	HP:0000179	Thick lower lip vermilion	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000179	HP:0000179	Thick lower lip vermilion	0	COL11A1 CL E G H	1301	2186	OMIM:154780	Marshall syndrome	.	215
HP:0000179	HP:0000179	Thick lower lip vermilion	0	COL11A1 CL E G H	1301	2186	ORPHA:560	Marshall syndrome	HP:0040281 - Very frequent	215
HP:0000179	HP:0000179	Thick lower lip vermilion	0	CUL4B CL E G H	8450	2555	OMIM:300354	Mental retardation, X-linked, syndromic, Cabezas type		38
HP:0000179	HP:0000179	Thick lower lip vermilion	0	CUL4B CL E G H	8450	2555	ORPHA:85293	X-linked intellectual disability, Cabezas type	HP:0040282 - Frequent	38
HP:0000179	HP:0000179	Thick lower lip vermilion	0	CUL7 CL E G H	9820	21024	OMIM:273750	3-M syndrome 1	.	127
HP:0000179	HP:0000179	Thick lower lip vermilion	0	CYP24A1 CL E G H	1591	2602	OMIM:143880	Hypercalcemia, infantile, 1	.	73
HP:0000179	HP:0000179	Thick lower lip vermilion	0	DEAF1 CL E G H	10522	14677	OMIM:615828	Mental retardation, autosomal dominant 24	.	33
HP:0000179	HP:0000179	Thick lower lip vermilion	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000179	HP:0000179	Thick lower lip vermilion	0	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome	HP:0040281 - Very frequent
HP:0000179	HP:0000179	Thick lower lip vermilion	0	DPF2 CL E G H	5977	9964	OMIM:618027	Coffin-Siris syndrome 7
HP:0000179	HP:0000179	Thick lower lip vermilion	0	DYRK1A CL E G H	1859	3091	OMIM:614104	Mental retardation, autosomal dominant 7		134
HP:0000179	HP:0000179	Thick lower lip vermilion	0	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS		25
HP:0000179	HP:0000179	Thick lower lip vermilion	0	ECM1 CL E G H	1893	3153	ORPHA:530	Lipoid proteinosis	HP:0040281 - Very frequent	14
HP:0000179	HP:0000179	Thick lower lip vermilion	0	EHMT1 CL E G H	79813	24650	ORPHA:261652	Kleefstra syndrome due to a point mutation	HP:0040283 - Occasional	223
HP:0000179	HP:0000179	Thick lower lip vermilion	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000179	HP:0000179	Thick lower lip vermilion	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	172
HP:0000179	HP:0000179	Thick lower lip vermilion	0	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome		172
HP:0000179	HP:0000179	Thick lower lip vermilion	0	FBN1 CL E G H	2200	3603	ORPHA:969	Acromicric dysplasia	HP:0040282 - Frequent	1361
HP:0000179	HP:0000179	Thick lower lip vermilion	0	FBN1 CL E G H	2200	3603	OMIM:102370	Acromicric dysplasia	.	1361
HP:0000179	HP:0000179	Thick lower lip vermilion	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000179	HP:0000179	Thick lower lip vermilion	0	FLNA CL E G H	2316	3754	ORPHA:555877	FLNA-related X-linked myxomatous valvular dysplasia		493
HP:0000179	HP:0000179	Thick lower lip vermilion	0	FRMD4A CL E G H	55691	25491	ORPHA:466688	Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome	HP:0040282 - Frequent	1
HP:0000179	HP:0000179	Thick lower lip vermilion	0	FTSJ1 CL E G H	24140	13254	OMIM:309549	Mental retardation, X-linked 9	.	13
HP:0000179	HP:0000179	Thick lower lip vermilion	0	FUCA1 CL E G H	2517	4006	OMIM:230000	FUCOSIDOSIS	.	43
HP:0000179	HP:0000179	Thick lower lip vermilion	0	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		39
HP:0000179	HP:0000179	Thick lower lip vermilion	0	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		34
HP:0000179	HP:0000179	Thick lower lip vermilion	0	GLA CL E G H	2717	4296	ORPHA:324	Fabry disease	HP:0040282 - Frequent	291
HP:0000179	HP:0000179	Thick lower lip vermilion	0	GNAI1 CL E G H	2770	4384	OMIM:619854
HP:0000179	HP:0000179	Thick lower lip vermilion	0	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID	.	69
HP:0000179	HP:0000179	Thick lower lip vermilion	0	GPR101 CL E G H	83550	14963	ORPHA:963	Acromegaly	HP:0040281 - Very frequent	5
HP:0000179	HP:0000179	Thick lower lip vermilion	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0000179	HP:0000179	Thick lower lip vermilion	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0000179	HP:0000179	Thick lower lip vermilion	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0000179	HP:0000179	Thick lower lip vermilion	0	HDAC4 CL E G H	9759	14063	OMIM:619797	NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES; NEDCHF		33
HP:0000179	HP:0000179	Thick lower lip vermilion	0	HECW2 CL E G H	57520	29853	OMIM:617268	Neurodevelopmental disorder with hypotonia, seizures, and absent language	.	11
HP:0000179	HP:0000179	Thick lower lip vermilion	0	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome	.	113
HP:0000179	HP:0000179	Thick lower lip vermilion	0	HRAS CL E G H	3265	5173	ORPHA:3071	Costello syndrome	HP:0040282 - Frequent	113
HP:0000179	HP:0000179	Thick lower lip vermilion	0	HUWE1 CL E G H	10075	30892	OMIM:309590	Mental retardation, x-linked syndromic, Turner type		98
HP:0000179	HP:0000179	Thick lower lip vermilion	0	IDS CL E G H	3423	5389	OMIM:309900	Mucopolysaccharidosis, type II	.	86
HP:0000179	HP:0000179	Thick lower lip vermilion	0	INSR CL E G H	3643	6091	OMIM:246200	Donohue syndrome	.	229
HP:0000179	HP:0000179	Thick lower lip vermilion	0	KAT5 CL E G H	10524	5275	OMIM:619103	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB		1
HP:0000179	HP:0000179	Thick lower lip vermilion	0	KCNN3 CL E G H	3782	6292	OMIM:618658	ZIMMERMANN-LABAND SYNDROME 3; ZLS3		7
HP:0000179	HP:0000179	Thick lower lip vermilion	0	KIF11 CL E G H	3832	6388	OMIM:152950	Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation	.	46
HP:0000179	HP:0000179	Thick lower lip vermilion	0	KIF15 CL E G H	56992	17273	ORPHA:261323	21q22.11q22.12 microdeletion syndrome	HP:0040283 - Occasional
HP:0000179	HP:0000179	Thick lower lip vermilion	0	KMT2C CL E G H	58508	13726	ORPHA:261652	Kleefstra syndrome due to a point mutation	HP:0040283 - Occasional	99
HP:0000179	HP:0000179	Thick lower lip vermilion	0	KRAS CL E G H	3845	6407	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	196
HP:0000179	HP:0000179	Thick lower lip vermilion	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000179	HP:0000179	Thick lower lip vermilion	0	LTBP1 CL E G H	4052	6714	OMIM:619451	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE; ARCL2E
HP:0000179	HP:0000179	Thick lower lip vermilion	0	LTBP3 CL E G H	4054	6716	ORPHA:969	Acromicric dysplasia	HP:0040282 - Frequent	12
HP:0000179	HP:0000179	Thick lower lip vermilion	0	LZTR1 CL E G H	8216	6742	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	43
HP:0000179	HP:0000179	Thick lower lip vermilion	0	MED12 CL E G H	9968	11957	OMIM:305450	Opitz-Kaveggia syndrome	.	228
HP:0000179	HP:0000179	Thick lower lip vermilion	0	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0000179	HP:0000179	Thick lower lip vermilion	0	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0000179	HP:0000179	Thick lower lip vermilion	0	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome		1
HP:0000179	HP:0000179	Thick lower lip vermilion	0	MRAS CL E G H	22808	7227	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent
HP:0000179	HP:0000179	Thick lower lip vermilion	0	NAGA CL E G H	4668	7631	OMIM:609242	Kanzaki disease	.	47
HP:0000179	HP:0000179	Thick lower lip vermilion	0	NANS CL E G H	54187	19237	OMIM:610442	Spondyloepimetaphyseal dysplasia, Genevieve type	.	8
HP:0000179	HP:0000179	Thick lower lip vermilion	0	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	13
HP:0000179	HP:0000179	Thick lower lip vermilion	0	NEU1 CL E G H	4758	7758	ORPHA:812	Sialidosis type 1	HP:0040281 - Very frequent	43
HP:0000179	HP:0000179	Thick lower lip vermilion	0	NEXMIF CL E G H	340533	29433	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040284 - Very rare	52
HP:0000179	HP:0000179	Thick lower lip vermilion	0	NRAS CL E G H	4893	7989	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	102
HP:0000179	HP:0000179	Thick lower lip vermilion	0	PHGDH CL E G H	26227	8923	OMIM:256520	Neu-Laxova syndrome	.	37
HP:0000179	HP:0000179	Thick lower lip vermilion	0	PIGL CL E G H	9487	8966	OMIM:280000	Zunich neuroectodermal syndrome	.	36
HP:0000179	HP:0000179	Thick lower lip vermilion	0	POU4F1 CL E G H	5457	9218	ORPHA:314647	Non-progressive cerebellar ataxia with intellectual disability	HP:0040282 - Frequent
HP:0000179	HP:0000179	Thick lower lip vermilion	0	PPP1CB CL E G H	5500	9282	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair	HP:0040283 - Occasional	9
HP:0000179	HP:0000179	Thick lower lip vermilion	0	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms	.	20
HP:0000179	HP:0000179	Thick lower lip vermilion	0	PTH1R CL E G H	5745	9608	OMIM:600002	Eiken syndrome		58
HP:0000179	HP:0000179	Thick lower lip vermilion	0	PTPN11 CL E G H	5781	9644	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	291
HP:0000179	HP:0000179	Thick lower lip vermilion	0	PUS7 CL E G H	54517	26033	OMIM:618342	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
HP:0000179	HP:0000179	Thick lower lip vermilion	0	RAF1 CL E G H	5894	9829	OMIM:611554	LEOPARD SYNDROME 2; LPRD2		212
HP:0000179	HP:0000179	Thick lower lip vermilion	0	RAF1 CL E G H	5894	9829	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	212
HP:0000179	HP:0000179	Thick lower lip vermilion	0	RASA2 CL E G H	5922	9872	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	3
HP:0000179	HP:0000179	Thick lower lip vermilion	0	RBMX CL E G H	27316	9910	OMIM:300238	MENTAL RETARDATION, X-LINKED, SYNDROMIC 11; MRXS11		2
HP:0000179	HP:0000179	Thick lower lip vermilion	0	RET CL E G H	5979	9967	OMIM:162300	Multiple endocrine neoplasia, type IIB	.	572
HP:0000179	HP:0000179	Thick lower lip vermilion	0	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000179	HP:0000179	Thick lower lip vermilion	0	RIT1 CL E G H	6016	10023	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	39
HP:0000179	HP:0000179	Thick lower lip vermilion	0	RNF135 CL E G H	84282	21158	ORPHA:137634	Overgrowth-macrocephaly-facial dysmorphism syndrome	HP:0040281 - Very frequent	11
HP:0000179	HP:0000179	Thick lower lip vermilion	0	RPS23 CL E G H	6228	10410	OMIM:617412	BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD		2
HP:0000179	HP:0000179	Thick lower lip vermilion	0	RPS6KA3 CL E G H	6197	10432	ORPHA:192	Coffin-Lowry syndrome	HP:0040281 - Very frequent	65
HP:0000179	HP:0000179	Thick lower lip vermilion	0	RPS6KA3 CL E G H	6197	10432	OMIM:300844	MENTAL RETARDATION, X-LINKED 19; MRX19		65
HP:0000179	HP:0000179	Thick lower lip vermilion	0	RRAS CL E G H	6237	10447	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent
HP:0000179	HP:0000179	Thick lower lip vermilion	0	RRAS2 CL E G H	22800	17271	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	1
HP:0000179	HP:0000179	Thick lower lip vermilion	0	SCN1A CL E G H	6323	10585	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040284 - Very rare	1053
HP:0000179	HP:0000179	Thick lower lip vermilion	0	SETD1B CL E G H	23067	29187	OMIM:619000	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEIZURES AND LANGUAGE DELAY; IDDSELD
HP:0000179	HP:0000179	Thick lower lip vermilion	0	SHOC2 CL E G H	8036	15454	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair	HP:0040283 - Occasional	74
HP:0000179	HP:0000179	Thick lower lip vermilion	0	SIN3A CL E G H	25942	19353	ORPHA:94065	15q24 microdeletion syndrome	HP:0040283 - Occasional	9
HP:0000179	HP:0000179	Thick lower lip vermilion	0	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome		9
HP:0000179	HP:0000179	Thick lower lip vermilion	0	SLC2A1 CL E G H	6513	11005	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040284 - Very rare	255
HP:0000179	HP:0000179	Thick lower lip vermilion	0	SLC6A1 CL E G H	6529	11042	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040284 - Very rare	29
HP:0000179	HP:0000179	Thick lower lip vermilion	0	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome	.	146
HP:0000179	HP:0000179	Thick lower lip vermilion	0	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome	HP:0040281 - Very frequent	617
HP:0000179	HP:0000179	Thick lower lip vermilion	0	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome	HP:0040281 - Very frequent	87
HP:0000179	HP:0000179	Thick lower lip vermilion	0	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome	HP:0040281 - Very frequent	1
HP:0000179	HP:0000179	Thick lower lip vermilion	0	SMARCC2 CL E G H	6601	11105	OMIM:618362	Coffin-Siris syndrome 8	.	1
HP:0000179	HP:0000179	Thick lower lip vermilion	0	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome	HP:0040281 - Very frequent
HP:0000179	HP:0000179	Thick lower lip vermilion	0	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome	HP:0040281 - Very frequent	47
HP:0000179	HP:0000179	Thick lower lip vermilion	0	SMARCE1 CL E G H	6605	11109	OMIM:616938	Coffin-Siris syndrome 5		47
HP:0000179	HP:0000179	Thick lower lip vermilion	0	SMG9 CL E G H	56006	25763	OMIM:616920	Heart and brain malformation syndrome	.	2
HP:0000179	HP:0000179	Thick lower lip vermilion	0	SMS CL E G H	6611	11123	OMIM:309583	Mental retardation, X-linked, syndromic, Snyder-Robinson type	.	19
HP:0000179	HP:0000179	Thick lower lip vermilion	0	SMS CL E G H	6611	11123	ORPHA:3063	X-linked intellectual disability, Snyder type	HP:0040282 - Frequent	19
HP:0000179	HP:0000179	Thick lower lip vermilion	0	SOS1 CL E G H	6654	11187	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	315
HP:0000179	HP:0000179	Thick lower lip vermilion	0	SOS2 CL E G H	6655	11188	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent	30
HP:0000179	HP:0000179	Thick lower lip vermilion	0	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome	HP:0040281 - Very frequent	14
HP:0000179	HP:0000179	Thick lower lip vermilion	0	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome	HP:0040281 - Very frequent
HP:0000179	HP:0000179	Thick lower lip vermilion	0	SPRED2 CL E G H	200734	17722	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent
HP:0000179	HP:0000179	Thick lower lip vermilion	0	SRD5A3 CL E G H	79644	25812	OMIM:612713	Kahrizi syndrome	.	80
HP:0000179	HP:0000179	Thick lower lip vermilion	0	STRADA CL E G H	92335	30172	OMIM:611087	Polyhydramnios, megalencephaly, and symptomatic epilepsy		6
HP:0000179	HP:0000179	Thick lower lip vermilion	0	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000179	HP:0000179	Thick lower lip vermilion	0	SYNGAP1 CL E G H	8831	11497	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040284 - Very rare	108
HP:0000179	HP:0000179	Thick lower lip vermilion	0	TASP1 CL E G H	55617	15859	OMIM:618950	SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0000179	HP:0000179	Thick lower lip vermilion	0	TBC1D24 CL E G H	57465	29203	OMIM:220500	Doors syndrome		271
HP:0000179	HP:0000179	Thick lower lip vermilion	0	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome	HP:0040282 - Frequent	271
HP:0000179	HP:0000179	Thick lower lip vermilion	0	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000179	HP:0000179	Thick lower lip vermilion	0	TMEM147 CL E G H	10430	30414	OMIM:620075
HP:0000179	HP:0000179	Thick lower lip vermilion	0	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000179	HP:0000179	Thick lower lip vermilion	0	TMEM53 CL E G H	79639	26186	OMIM:619727	CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE; CTDI
HP:0000179	HP:0000179	Thick lower lip vermilion	0	UGDH CL E G H	7358	12525	OMIM:618792	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84; DEE84
HP:0000179	HP:0000179	Thick lower lip vermilion	0	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0000179	HP:0000179	Thick lower lip vermilion	0	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome	HP:0040281 - Very frequent	7
HP:0000179	HP:0000179	Thick lower lip vermilion	0	YY1 CL E G H	7528	12856	OMIM:617557	Gabriele-De vries syndrome	.	7
HP:0000179	HP:0000179	Thick lower lip vermilion	0	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome		17
HP:0000179	HP:0000179	Thick lower lip vermilion	0	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation	HP:0040282 - Frequent	362
HP:0000179	HP:0000179	Thick lower lip vermilion	0	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22	HP:0040282 - Frequent	362

Genes (133) :ABCC9 ACER3 ADNP AFF3 AGA AIP AMER1 ANTXR1 AP2M1 ARID1A ARID1B ARID2 ATP6V1B2 ATRX BAZ1B BCL7B BUD23 C12ORF57 CA2 CAMTA1 CBL CDH11 CDKL5 CDT1 CHD2 CLIP2 COL11A1 CUL4B CUL7 CYP24A1 DEAF1 DNAJC30 DPF2 DYRK1A EBF3 ECM1 EHMT1 EIF4H ELN FBN1 FKBP6 FLNA FRMD4A FTSJ1 FUCA1 GJA5 GJA8 GLA GNAI1 GNS GPR101 GTF2I GTF2IRD1 GTF2IRD2 HDAC4 HECW2 HRAS HUWE1 IDS INSR KAT5 KCNN3 KIF11 KIF15 KMT2C KRAS LIMK1 LTBP1 LTBP3 LZTR1 MED12 METTL27 MLXIPL MRAS NAGA NANS NCF1 NEU1 NEXMIF NRAS PHGDH PIGL POU4F1 PPP1CB PSMB8 PTH1R PTPN11 PUS7 RAF1 RASA2 RBMX RET RFC2 RIT1 RNF135 RPS23 RPS6KA3 RRAS RRAS2 SCN1A SETD1B SHOC2 SIN3A SLC2A1 SLC6A1 SMARCA2 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMG9 SMS SOS1 SOS2 SOX11 SOX4 SPRED2 SRD5A3 STRADA STX1A SYNGAP1 TASP1 TBC1D24 TBL2 TMEM147 TMEM270 TMEM53 UGDH VPS37D YY1 ZBTB20 ZEB2

Diseases (99) :OMIM:239850 OMIM:617762 ORPHA:404448 OMIM:615873 OMIM:619297 OMIM:208400 ORPHA:963 OMIM:300373 OMIM:230740 ORPHA:1942 ORPHA:1465 OMIM:614607 OMIM:135900 ORPHA:79500 ORPHA:847 OMIM:301040 OMIM:309580 ORPHA:904 ORPHA:1777 ORPHA:2785 OMIM:614756 ORPHA:314647 ORPHA:648 OMIM:211380 OMIM:300672 OMIM:613804 OMIM:154780 ORPHA:560 OMIM:300354 ORPHA:85293 OMIM:273750 OMIM:143880 OMIM:615828 OMIM:618027 OMIM:614104 OMIM:617330 ORPHA:530 ORPHA:261652 OMIM:194050 ORPHA:969 OMIM:102370 ORPHA:555877 ORPHA:466688 OMIM:309549 OMIM:230000 OMIM:612474 ORPHA:324 OMIM:619854 OMIM:252940 OMIM:619797 OMIM:617268 OMIM:218040 ORPHA:3071 OMIM:309590 OMIM:309900 OMIM:246200 OMIM:619103 OMIM:618658 OMIM:152950 ORPHA:261323 OMIM:619451 OMIM:305450 OMIM:609242 OMIM:610442 ORPHA:812 OMIM:256520 OMIM:280000 ORPHA:2701 OMIM:256040 OMIM:600002 OMIM:618342 OMIM:611554 OMIM:300238 OMIM:162300 ORPHA:137634 OMIM:617412 ORPHA:192 OMIM:300844 OMIM:619000 ORPHA:94065 OMIM:613406 OMIM:601358 OMIM:618362 OMIM:616938 OMIM:616920 OMIM:309583 ORPHA:3063 OMIM:612713 OMIM:611087 OMIM:618950 OMIM:220500 OMIM:620075 OMIM:619727 OMIM:618792 ORPHA:506358 OMIM:617557 OMIM:259050 ORPHA:261552 ORPHA:261537

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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