Human Phenotype Ontology 
Grandparent Node:
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Abnormal lip morphology (HP:0000159)help
Parent Node:
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Abnormality of lower lip (HP:0000178)help
Parent Node:
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Thick vermilion border (HP:0012471)help
..Starting node
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Thick lower lip vermilion (HP:0000179)help
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: 
..expandThick upper lip vermilion (HP:0000215) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0000179HP:0000179Thick lower lip vermilion0A2ML1 CL E G H144568648ORPHA12149223336610627
HP:0000179HP:0000179Thick lower lip vermilion0ABCC9 CL E G H10060965Brachydactyly dwarfism mental retardationORPHA14965860601439
HP:0000179HP:0000179Thick lower lip vermilion0ABCC9 CL E G H10060239850Hypertrichotic osteochondrodysplasia239850C0795905OMIM14965860601439
HP:0000179HP:0000179Thick lower lip vermilion0AGA CL E G H175208400Aspartylglucosaminuria208400C0268225OMIM138239318613228
HP:0000179HP:0000179Thick lower lip vermilion0AIP CL E G H9049963ORPHA1112273358605555
HP:0000179HP:0000179Thick lower lip vermilion0AMER1 CL E G H139285300373Osteopathia striata with cranial sclerosis300373C0432268OMIM14121926837300647
HP:0000179HP:0000179Thick lower lip vermilion0ANTXR1 CL E G H84168230740Odontotrichomelic syndrome230740C0406723OMIM1142421014606410
HP:0000179HP:0000179Thick lower lip vermilion0ARID1A CL E G H82891465ORPHA13617511110603024
HP:0000179HP:0000179Thick lower lip vermilion0ARID1B CL E G H574921465ORPHA118857518040614556
HP:0000179HP:0000179Thick lower lip vermilion0ARID1B CL E G H57492135900Coffin-Siris syndrome 1135900C3281201OMIM118857518040614556
HP:0000179HP:0000179Thick lower lip vermilion0ARID2 CL E G H1965281465ORPHA11111518037609539
HP:0000179HP:0000179Thick lower lip vermilion0ATRX CL E G H546847ORPHA1170663886300032
HP:0000179HP:0000179Thick lower lip vermilion0ATRX CL E G H546301040ATR-X syndrome301040C1845055OMIM1170663886300032
HP:0000179HP:0000179Thick lower lip vermilion0ATRX CL E G H546309580Mental retardation-hypotonic facies syndrome X-linked, 1309580C0796003OMIM1170663886300032
HP:0000179HP:0000179Thick lower lip vermilion0BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA15187961605681
HP:0000179HP:0000179Thick lower lip vermilion0BRAF CL E G H673648ORPHA1684901097164757
HP:0000179HP:0000179Thick lower lip vermilion0CAMTA1 CL E G H23261314647ORPHA11123218806611501
HP:0000179HP:0000179Thick lower lip vermilion0CAMTA1 CL E G H23261614756Cerebellar ataxia, nonprogressive, with mental retardation614756C3553661OMIM11123218806611501
HP:0000179HP:0000179Thick lower lip vermilion0CDH11 CL E G H1009211380Brachioskeletogenital syndrome211380C0809936OMIM110401750600023
HP:0000179HP:0000179Thick lower lip vermilion0CDKL5 CL E G H6792300672Early infantile epileptic encephalopathy 2300672C1839333OMIM1388104611411300203
HP:0000179HP:0000179Thick lower lip vermilion0CDT1 CL E G H81620613804Meier-Gorlin syndrome 4613804C3151120OMIM11215824576605525
HP:0000179HP:0000179Thick lower lip vermilion0CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA111742586603432
HP:0000179HP:0000179Thick lower lip vermilion0COL11A1 CL E G H1301560ORPHA11065602186120280
HP:0000179HP:0000179Thick lower lip vermilion0COL11A1 CL E G H1301154780Marshall syndrome154780C0265235OMIM11065602186120280
HP:0000179HP:0000179Thick lower lip vermilion0CUL4B CL E G H845085293ORPHA1402472555300304
HP:0000179HP:0000179Thick lower lip vermilion0CUL7 CL E G H9820273750Three M syndrome 1273750C1848862OMIM18524821024609577
HP:0000179HP:0000179Thick lower lip vermilion0CYP24A1 CL E G H1591143880Idiopathic hypercalcemia of infancy143880C0268080OMIM1441302602126065
HP:0000179HP:0000179Thick lower lip vermilion0DEAF1 CL E G H10522615828Mental retardation, autosomal dominant 24615828C4014414OMIM11712914677602635
HP:0000179HP:0000179Thick lower lip vermilion0DPF2 CL E G H59771465ORPHA19149964601671
HP:0000179HP:0000179Thick lower lip vermilion0ECM1 CL E G H1893530Acute myeloblastic leukemia type 5ORPHA166433153602201
HP:0000179HP:0000179Thick lower lip vermilion0ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA11275233327130160
HP:0000179HP:0000179Thick lower lip vermilion0ELN CL E G H2006194050Williams syndrome194050C0175702OMIM11275233327130160
HP:0000179HP:0000179Thick lower lip vermilion0FBN1 CL E G H2200102370Acromicric dysplasia102370C0265287OMIM1272142843603134797
HP:0000179HP:0000179Thick lower lip vermilion0FBN1 CL E G H2200969Brachydactyly mesomelia mental retardation heart defectsORPHA1272142843603134797
HP:0000179HP:0000179Thick lower lip vermilion0FRMD4A CL E G H55691466688ORPHA125325491616305
HP:0000179HP:0000179Thick lower lip vermilion0FTSJ1 CL E G H24140309549Mental retardation 9, X-linked309549C0796215OMIM11020613254300499
HP:0000179HP:0000179Thick lower lip vermilion0FUCA1 CL E G H2517230000Fucosidosis230000C0016788OMIM1341094006612280
HP:0000179HP:0000179Thick lower lip vermilion0GLA CL E G H2717324Slti Salem syndromeORPHA19667284296300644
HP:0000179HP:0000179Thick lower lip vermilion0GNS CL E G H2799252940Mucopolysaccharidosis, MPS-III-D252940C0086650OMIM1251464422607664
HP:0000179HP:0000179Thick lower lip vermilion0GPR101 CL E G H83550963ORPHA11819414963300393
HP:0000179HP:0000179Thick lower lip vermilion0GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA111574659601679
HP:0000179HP:0000179Thick lower lip vermilion0GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA162064661604318
HP:0000179HP:0000179Thick lower lip vermilion0HECW2 CL E G H57520617268Neurodevelopmental disorder with hypotonia, seizures, and absent language617268C4310643OMIM11014029853617245
HP:0000179HP:0000179Thick lower lip vermilion0HRAS CL E G H32653071ORPHA1342955173190020
HP:0000179HP:0000179Thick lower lip vermilion0HRAS CL E G H3265218040Costello syndrome218040C0587248OMIM1342955173190020
HP:0000179HP:0000179Thick lower lip vermilion0IDS CL E G H3423309900Mucopolysaccharidosis, MPS-II309900C0026705OMIM16404245389300823
HP:0000179HP:0000179Thick lower lip vermilion0INSR CL E G H3643508Acroosteolysis dominant typeORPHA11964076091147670
HP:0000179HP:0000179Thick lower lip vermilion0INSR CL E G H3643246200Leprechaunism syndrome246200C0265344OMIM11964076091147670
HP:0000179HP:0000179Thick lower lip vermilion0KAT6B CL E G H23522648ORPHA17622817582605880
HP:0000179HP:0000179Thick lower lip vermilion0KCNH1 CL E G H3756135500Zimmermann-Laband syndrome 1135500CN032818OMIM113916250603305
HP:0000179HP:0000179Thick lower lip vermilion0KIF11 CL E G H3832152950Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation152950C1835265OMIM1701726388148760
HP:0000179HP:0000179Thick lower lip vermilion0KRAS CL E G H3845648ORPHA1452746407190070
HP:0000179HP:0000179Thick lower lip vermilion0LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA171936613601329
HP:0000179HP:0000179Thick lower lip vermilion0LTBP3 CL E G H4054969Brachydactyly mesomelia mental retardation heart defectsORPHA113926716602090
HP:0000179HP:0000179Thick lower lip vermilion0LZTR1 CL E G H8216648ORPHA1866996742600574
HP:0000179HP:0000179Thick lower lip vermilion0MED12 CL E G H9968305450FG syndrome305450C0220769OMIM13465011957300188
HP:0000179HP:0000179Thick lower lip vermilion0MLXIPL CL E G H51085194050Williams syndrome194050C0175702OMIM1619712744605678
HP:0000179HP:0000179Thick lower lip vermilion0NAGA CL E G H4668609242Kanzaki disease609242C1836522OMIM1111307631104170
HP:0000179HP:0000179Thick lower lip vermilion0NANS CL E G H54187610442Spondyloepimetaphyseal dysplasia Genevieve type610442C1864872OMIM1126119237605202
HP:0000179HP:0000179Thick lower lip vermilion0NEU1 CL E G H4758812ORPHA1641027758608272
HP:0000179HP:0000179Thick lower lip vermilion0NRAS CL E G H4893648ORPHA1141817989164790
HP:0000179HP:0000179Thick lower lip vermilion0ORC1 CL E G H4998224690Meier-Gorlin syndrome 1224690CN030358OMIM1121038487601902
HP:0000179HP:0000179Thick lower lip vermilion0ORC6 CL E G H23594613803Meier-Gorlin syndrome 3613803C3151113OMIM169017151607213
HP:0000179HP:0000179Thick lower lip vermilion0PHGDH CL E G H26227256520Neu-Laxova syndrome 1256520CN032230OMIM1231458923606879
HP:0000179HP:0000179Thick lower lip vermilion0PIGL CL E G H9487280000Zunich neuroectodermal syndrome280000C1848392OMIM111988966605947
HP:0000179HP:0000179Thick lower lip vermilion0PSMB8 CL E G H5696256040Nakajo syndrome256040C1850568OMIM111869545177046
HP:0000179HP:0000179Thick lower lip vermilion0PTPN11 CL E G H5781648ORPHA11434759644176876
HP:0000179HP:0000179Thick lower lip vermilion0RAF1 CL E G H5894648ORPHA1545089829164760
HP:0000179HP:0000179Thick lower lip vermilion0RAF1 CL E G H5894611554LEOPARD syndrome 2611554C1969056OMIM1545089829164760
HP:0000179HP:0000179Thick lower lip vermilion0RASA2 CL E G H5922648ORPHA13739872601589
HP:0000179HP:0000179Thick lower lip vermilion0RBMX CL E G H27316300238Mental retardation X-linked syndromic 11300238C1846145OMIM111829910300199
HP:0000179HP:0000179Thick lower lip vermilion0RET CL E G H5979162300Multiple endocrine neoplasia, type 2b162300C0025269OMIM143214969967164761
HP:0000179HP:0000179Thick lower lip vermilion0RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA141739970600404
HP:0000179HP:0000179Thick lower lip vermilion0RIN2 CL E G H54453613075Macrocephaly, alopecia, cutis laxa, and scoliosis613075C2751321OMIM1415518750610222
HP:0000179HP:0000179Thick lower lip vermilion0RIT1 CL E G H6016648ORPHA12610610023609591
HP:0000179HP:0000179Thick lower lip vermilion0RNF135 CL E G H84282137634ORPHA188921158611358
HP:0000179HP:0000179Thick lower lip vermilion0RPS6KA3 CL E G H6197192Karandikar Maria Kamble syndromeORPHA117130910432300075
HP:0000179HP:0000179Thick lower lip vermilion0RPS6KA3 CL E G H6197300844Mental retardation, X-linked 19300844C0796225OMIM117130910432300075
HP:0000179HP:0000179Thick lower lip vermilion0RRAS CL E G H6237648ORPHA127510447165090
HP:0000179HP:0000179Thick lower lip vermilion0SIN3A CL E G H2594294065ORPHA11611619353607776
HP:0000179HP:0000179Thick lower lip vermilion0SIN3A CL E G H25942613406Witteveen-kolk syndrome613406C3150674OMIM11611619353607776
HP:0000179HP:0000179Thick lower lip vermilion0SMARCA2 CL E G H6595601358Nicolaides-Baraitser syndrome601358C1303073OMIM17844511098600014
HP:0000179HP:0000179Thick lower lip vermilion0SMARCA4 CL E G H65971465ORPHA157247311100603254
HP:0000179HP:0000179Thick lower lip vermilion0SMARCB1 CL E G H65981465ORPHA111948211103601607
HP:0000179HP:0000179Thick lower lip vermilion0SMARCE1 CL E G H66051465ORPHA11328711109603111
HP:0000179HP:0000179Thick lower lip vermilion0SMARCE1 CL E G H6605616938Coffin-Siris syndrome 5616938C4310788OMIM11328711109603111
HP:0000179HP:0000179Thick lower lip vermilion0SMG9 CL E G H56006616920Heart and brain malformation syndrome616920C4310793OMIM122925763613176
HP:0000179HP:0000179Thick lower lip vermilion0SMS CL E G H6611309583Snyder Robinson syndrome309583C0796160OMIM11520611123300105
HP:0000179HP:0000179Thick lower lip vermilion0SOS1 CL E G H6654648ORPHA17566511187182530
HP:0000179HP:0000179Thick lower lip vermilion0SOS1 CL E G H6654610733Noonan syndrome 4610733C1853120OMIM17566511187182530
HP:0000179HP:0000179Thick lower lip vermilion0SOS2 CL E G H6655648ORPHA1632411188601247
HP:0000179HP:0000179Thick lower lip vermilion0SOX11 CL E G H66641465ORPHA1147011191600898
HP:0000179HP:0000179Thick lower lip vermilion0SRD5A3 CL E G H79644612713Kahrizi syndrome612713C2675185OMIM11613925812611715
HP:0000179HP:0000179Thick lower lip vermilion0TBC1D24 CL E G H5746579500ORPHA15656429203613577
HP:0000179HP:0000179Thick lower lip vermilion0TBL2 CL E G H26608904Blepharophimosis nasal groove growth retardationORPHA115911586605842
HP:0000179HP:0000179Thick lower lip vermilion0YY1 CL E G H7528617557GABRIELE-DE VRIES SYNDROME617557C4479652OMIM1235712856600013
HP:0000179HP:0000179Thick lower lip vermilion0ZBTB20 CL E G H26137259050Primrose syndrome259050C0796121OMIM12510913503606025
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000179HP:0000179Thick lower lip vermilion0ADNP CL E G H23394615873Helsmoortel-van der aa syndrome615873C4014538OMIM06817915766611386
HP:0000179HP:0000179Thick lower lip vermilion0ARID1A CL E G H8289614607Mental retardation, autosomal dominant 14614607C3553247OMIM03617511110603024
HP:0000179HP:0000179Thick lower lip vermilion0C12orf57 CL E G H1132461777ORPHA0812529521615140
HP:0000179HP:0000179Thick lower lip vermilion0CUL4B CL E G H8450300354Syndromic X-linked mental retardation, Cabezas type300354C1845861OMIM0402472555300304
HP:0000179HP:0000179Thick lower lip vermilion0DYRK1A CL E G H1859614104Mental retardation, autosomal dominant 7614104C3279839OMIM0774373091600855
HP:0000179HP:0000179Thick lower lip vermilion0GATA1 CL E G H2623124Allain-Babin-Demarquez syndromeORPHA0152354170305371
HP:0000179HP:0000179Thick lower lip vermilion0PPP1CB CL E G H55002701Noonan syndrome-like disorder with loose anagen hairC3501846ORPHA012409282600590
HP:0000179HP:0000179Thick lower lip vermilion0PSMB8 CL E G H56962615ORPHA011869545177046
HP:0000179HP:0000179Thick lower lip vermilion0RPL11 CL E G H6135124Allain-Babin-Demarquez syndromeORPHA0456110301604175
HP:0000179HP:0000179Thick lower lip vermilion0RPL15 CL E G H6138124Allain-Babin-Demarquez syndromeORPHA072810306604174
HP:0000179HP:0000179Thick lower lip vermilion0RPL18 CL E G H6141124Allain-Babin-Demarquez syndromeORPHA02310310604179
HP:0000179HP:0000179Thick lower lip vermilion0RPL26 CL E G H6154124Allain-Babin-Demarquez syndromeORPHA013110327603704
HP:0000179HP:0000179Thick lower lip vermilion0RPL27 CL E G H6155124Allain-Babin-Demarquez syndromeORPHA011210328607526
HP:0000179HP:0000179Thick lower lip vermilion0RPL35 CL E G H11224124Allain-Babin-Demarquez syndromeORPHA032103440
HP:0000179HP:0000179Thick lower lip vermilion0RPL35A CL E G H6165124Allain-Babin-Demarquez syndromeORPHA0148210345180468
HP:0000179HP:0000179Thick lower lip vermilion0RPL5 CL E G H6125124Allain-Babin-Demarquez syndromeORPHA07710010360603634
HP:0000179HP:0000179Thick lower lip vermilion0RPS10 CL E G H6204124Allain-Babin-Demarquez syndromeORPHA055210383603632
HP:0000179HP:0000179Thick lower lip vermilion0RPS17 CL E G H6218124Allain-Babin-Demarquez syndromeORPHA0183010397180472
HP:0000179HP:0000179Thick lower lip vermilion0RPS19 CL E G H6223124Allain-Babin-Demarquez syndromeORPHA01759610402603474
HP:0000179HP:0000179Thick lower lip vermilion0RPS24 CL E G H6229124Allain-Babin-Demarquez syndromeORPHA0106210411602412
HP:0000179HP:0000179Thick lower lip vermilion0RPS26 CL E G H6231124Allain-Babin-Demarquez syndromeORPHA0345110414603701
HP:0000179HP:0000179Thick lower lip vermilion0RPS27 CL E G H6232124Allain-Babin-Demarquez syndromeORPHA011610416603702
HP:0000179HP:0000179Thick lower lip vermilion0RPS28 CL E G H6234124Allain-Babin-Demarquez syndromeORPHA011010418603685
HP:0000179HP:0000179Thick lower lip vermilion0RPS29 CL E G H6235124Allain-Babin-Demarquez syndromeORPHA041510419603633
HP:0000179HP:0000179Thick lower lip vermilion0RPS7 CL E G H6201124Allain-Babin-Demarquez syndromeORPHA0107510440603658
HP:0000179HP:0000179Thick lower lip vermilion0SHOC2 CL E G H80362701Noonan syndrome-like disorder with loose anagen hairC3501846ORPHA0418415454602775
HP:0000179HP:0000179Thick lower lip vermilion0STRADA CL E G H92335611087Polyhydramnios, megalencephaly, and symptomatic epilepsy611087C1970203OMIM0512930172608626
HP:0000179HP:0000179Thick lower lip vermilion0TSR2 CL E G H90121124Allain-Babin-Demarquez syndromeORPHA0214925455300945


Genes (107) :A2ML1 ABCC9 ADNP AGA AIP AMER1 ANTXR1 ARID1A ARID1B ARID2 ATRX BAZ1B BRAF C12ORF57 CAMTA1 CDH11 CDKL5 CDT1 CLIP2 COL11A1 CUL4B CUL7 CYP24A1 DEAF1 DPF2 DYRK1A ECM1 ELN FBN1 FRMD4A FTSJ1 FUCA1 GATA1 GLA GNS GPR101 GTF2I GTF2IRD1 HECW2 HRAS IDS INSR KAT6B KCNH1 KIF11 KRAS LIMK1 LTBP3 LZTR1 MED12 MLXIPL NAGA NANS NEU1 NRAS ORC1 ORC6 PHGDH PIGL PPP1CB PSMB8 PTPN11 RAF1 RASA2 RBMX RET RFC2 RIN2 RIT1 RNF135 RPL11 RPL15 RPL18 RPL26 RPL27 RPL35 RPL35A RPL5 RPS10 RPS17 RPS19 RPS24 RPS26 RPS27 RPS28 RPS29 RPS6KA3 RPS7 RRAS SHOC2 SIN3A SMARCA2 SMARCA4 SMARCB1 SMARCE1 SMG9 SMS SOS1 SOS2 SOX11 SRD5A3 STRADA TBC1D24 TBL2 TSR2 YY1 ZBTB20

Diseases (77) :648 965 239850 615873 208400 963 300373 230740 1465 614607 135900 847 301040 309580 904 1777 314647 614756 211380 300672 613804 560 154780 85293 300354 273750 143880 615828 614104 530 194050 102370 969 466688 309549 230000 124 324 252940 617268 3071 218040 309900 508 246200 135500 152950 305450 609242 610442 812 224690 613803 256520 280000 2701 2615 256040 611554 300238 162300 613075 137634 192 300844 94065 613406 601358 616938 616920 309583 610733 612713 611087 79500 617557 259050
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is June 2019 release.