Human Phenotype Ontology 
Grandparent Node:
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Abnormality of upper lip (HP:0000177)help
Parent Node:
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Abnormality of upper lip vermillion (HP:0011339)help
..Starting node
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Tented upper lip vermilion (HP:0010804)help
Term ID: 10804
Name: Tented upper lip vermilion
Synonym: Inverted V-shaped upper lip; Tented mouth; Tented upper lip
Definition: Triangular appearance of the oral aperture with the apex in the midpoint of the upper vermilion and the lower vermilion forming the base.
Comments:
Reference: HP:0010804
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbsent cupid's bow (HP:0010800) help
..expandEverted upper lip vermilion (HP:0010803) help
..expandExaggerated cupid's bow (HP:0002263) help
..expandThick upper lip vermilion (HP:0000215) help
..expandThin upper lip vermilion (HP:0000219) help
..expandU-Shaped upper lip vermilion (HP:0010806) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0010804HP:0010804Tented upper lip vermilion0ACTA1 CL E G H582020ORPHA1217272129102610
HP:0010804HP:0010804Tented upper lip vermilion0ADAMTSL1 CL E G H92949521445ORPHA1310814632609198
HP:0010804HP:0010804Tented upper lip vermilion0ALDH6A1 CL E G H4329614105Methylmalonate semialdehyde dehydrogenase deficiency614105C3279840OMIM161307179603178
HP:0010804HP:0010804Tented upper lip vermilion0ATRX CL E G H546847ORPHA1170663886300032
HP:0010804HP:0010804Tented upper lip vermilion0ATRX CL E G H546309580Mental retardation-hypotonic facies syndrome X-linked, 1309580C0796003OMIM1170663886300032
HP:0010804HP:0010804Tented upper lip vermilion0BRAT1 CL E G H221927618056NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES618056CN252657OMIM11848221701614506
HP:0010804HP:0010804Tented upper lip vermilion0CDON CL E G H50937280200ORPHA11339117104608707
HP:0010804HP:0010804Tented upper lip vermilion0CHAMP1 CL E G H283489616579Mental retardation, autosomal dominant 40616579C4225275OMIM11716820311616327
HP:0010804HP:0010804Tented upper lip vermilion0DCHS1 CL E G H8642601390601390601390OMIM12418013681603057
HP:0010804HP:0010804Tented upper lip vermilion0DEAF1 CL E G H10522819ORPHA11712914677602635
HP:0010804HP:0010804Tented upper lip vermilion0DEAF1 CL E G H10522615828Mental retardation, autosomal dominant 24615828C4014414OMIM11712914677602635
HP:0010804HP:0010804Tented upper lip vermilion0DIS3L2 CL E G H129563267000Renal hamartomas nephroblastomatosis and fetal gigantism267000C0796113OMIM11488128648614184
HP:0010804HP:0010804Tented upper lip vermilion0DISP1 CL E G H84976280200ORPHA11110019711607502
HP:0010804HP:0010804Tented upper lip vermilion0DLL1 CL E G H28514280200ORPHA1191322908606582
HP:0010804HP:0010804Tented upper lip vermilion0EEF1A2 CL E G H1917616393Mental retardation, autosomal dominant 38616393C4225343OMIM1122603192602959
HP:0010804HP:0010804Tented upper lip vermilion0FAT4 CL E G H79633615546Van Maldergem syndrome 2615546C3809875OMIM13731723109612411
HP:0010804HP:0010804Tented upper lip vermilion0FGF8 CL E G H2253280200ORPHA141543686600483
HP:0010804HP:0010804Tented upper lip vermilion0FGFR1 CL E G H2260280200ORPHA12653883688136350
HP:0010804HP:0010804Tented upper lip vermilion0FLII CL E G H2314819ORPHA121533750600362
HP:0010804HP:0010804Tented upper lip vermilion0FOXG1 CL E G H2290261144ORPHA11693573811164874
HP:0010804HP:0010804Tented upper lip vermilion0FOXH1 CL E G H8928280200ORPHA1331883814603621
HP:0010804HP:0010804Tented upper lip vermilion0GAS1 CL E G H2619280200ORPHA16424165139185
HP:0010804HP:0010804Tented upper lip vermilion0GLI2 CL E G H2736280200ORPHA1883724318165230
HP:0010804HP:0010804Tented upper lip vermilion0HACD1 CL E G H92002020ORPHA11339639610467
HP:0010804HP:0010804Tented upper lip vermilion0IER3IP1 CL E G H51124614231Microcephaly, epilepsy, and diabetes syndrome614231C3280240OMIM148318550609382
HP:0010804HP:0010804Tented upper lip vermilion0IL1RAPL1 CL E G H11141300143Mental retardation 21, X-linked300143C0796227OMIM1422735996300206
HP:0010804HP:0010804Tented upper lip vermilion0IQSEC2 CL E G H23096819ORPHA15753929059300522
HP:0010804HP:0010804Tented upper lip vermilion0ITGA7 CL E G H36792020ORPHA1103706143600536
HP:0010804HP:0010804Tented upper lip vermilion0KCNJ6 CL E G H3763435628ORPHA13846267600877
HP:0010804HP:0010804Tented upper lip vermilion0KCNJ6 CL E G H3763614098Keppen-Lubinsky syndrome614098C3279800OMIM13846267600877
HP:0010804HP:0010804Tented upper lip vermilion0MAP3K20 CL E G H517762020ORPHA173617797609479
HP:0010804HP:0010804Tented upper lip vermilion0MBD5 CL E G H55777228402ORPHA19166420444611472
HP:0010804HP:0010804Tented upper lip vermilion0MECP2 CL E G H42041762ORPHA1105014426990300005
HP:0010804HP:0010804Tented upper lip vermilion0MECP2 CL E G H4204300260MECP2 duplication syndrome300260C1846058OMIM1105014426990300005
HP:0010804HP:0010804Tented upper lip vermilion0MED25 CL E G H81857616449Basel-Vanagaite-Smirin-Yosef syndrome616449C4225323OMIM1529728845610197
HP:0010804HP:0010804Tented upper lip vermilion0MEIS2 CL E G H4212600987Cleft palate, cardiac defects, and mental retardation600987C1832950OMIM123577001601740
HP:0010804HP:0010804Tented upper lip vermilion0MYL2 CL E G H46332020ORPHA1672827583160781
HP:0010804HP:0010804Tented upper lip vermilion0NEXMIF CL E G H34053385277ORPHA14146829433300524
HP:0010804HP:0010804Tented upper lip vermilion0NODAL CL E G H4838280200ORPHA1251017865601265
HP:0010804HP:0010804Tented upper lip vermilion0NXN CL E G H643591507Congenital unilateral pulmonary hypoplasiaORPHA1513018008612895
HP:0010804HP:0010804Tented upper lip vermilion0PAX3 CL E G H5077896ORPHA11531818617606597
HP:0010804HP:0010804Tented upper lip vermilion0PAX3 CL E G H5077894ORPHA11531818617606597
HP:0010804HP:0010804Tented upper lip vermilion0PGAP2 CL E G H27315614207Hyperphosphatasia with mental retardation syndrome 3614207C3280153OMIM175217893615187
HP:0010804HP:0010804Tented upper lip vermilion0PGAP3 CL E G H93210615716Hyperphosphatasia with mental retardation syndrome 4615716C3810354OMIM1186023719611801
HP:0010804HP:0010804Tented upper lip vermilion0PIGN CL E G H235562059ORPHA1344168967606097
HP:0010804HP:0010804Tented upper lip vermilion0PIGO CL E G H84720614749Hyperphosphatasia with mental retardation syndrome 2614749C3553637OMIM12144923215614730
HP:0010804HP:0010804Tented upper lip vermilion0PIGV CL E G H55650239300Hyperphosphatasia with mental retardation syndrome 1239300CN030519OMIM11611226031610274
HP:0010804HP:0010804Tented upper lip vermilion0PIGW CL E G H284098616025Hyperphosphatasia with mental retardation syndrome 5616025C4014958OMIM1413723213610275
HP:0010804HP:0010804Tented upper lip vermilion0PLAA CL E G H9373521426ORPHA13849043603873
HP:0010804HP:0010804Tented upper lip vermilion0PLAA CL E G H9373617527NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES617527C4479631OMIM13849043603873
HP:0010804HP:0010804Tented upper lip vermilion0PPP2R1A CL E G H5518616362Mental retardation, autosomal dominant 36616362C4225352OMIM17519302605983
HP:0010804HP:0010804Tented upper lip vermilion0PREPL CL E G H9581616224Myasthenic syndrome, congenital, 22616224C4479088OMIM11827030228609557
HP:0010804HP:0010804Tented upper lip vermilion0PTCH1 CL E G H5727280200ORPHA152920319585601309
HP:0010804HP:0010804Tented upper lip vermilion0RAI1 CL E G H10743819ORPHA11164049834607642
HP:0010804HP:0010804Tented upper lip vermilion0ROR2 CL E G H49201507Congenital unilateral pulmonary hypoplasiaORPHA14025810257602337
HP:0010804HP:0010804Tented upper lip vermilion0RSPRY1 CL E G H89970616723Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type616723C4225232OMIM143929420616585
HP:0010804HP:0010804Tented upper lip vermilion0SELENON CL E G H571902020ORPHA16335415999606210
HP:0010804HP:0010804Tented upper lip vermilion0SHH CL E G H6469280200ORPHA122121010848600725
HP:0010804HP:0010804Tented upper lip vermilion0SIX3 CL E G H6496280200ORPHA1919010889603714
HP:0010804HP:0010804Tented upper lip vermilion0SLC25A46 CL E G H91137616505NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB616505C4225302OMIM11717425198610826
HP:0010804HP:0010804Tented upper lip vermilion0SUFU CL E G H51684280200ORPHA14753316466607035
HP:0010804HP:0010804Tented upper lip vermilion0TBCK CL E G H93627616900Hypotonia, infantile, with psychomotor retardation and characteristic facies 3616900C4225161OMIM1169628261616899
HP:0010804HP:0010804Tented upper lip vermilion0TDGF1 CL E G H6997280200ORPHA161411701187395
HP:0010804HP:0010804Tented upper lip vermilion0TGIF1 CL E G H7050280200ORPHA12817011776602630
HP:0010804HP:0010804Tented upper lip vermilion0TMEM237 CL E G H65062614424Joubert syndrome 14614424C3280766OMIM11122114432614423
HP:0010804HP:0010804Tented upper lip vermilion0TPM2 CL E G H71692020ORPHA14019912011190990
HP:0010804HP:0010804Tented upper lip vermilion0TPM3 CL E G H71702020ORPHA12822512012191030
HP:0010804HP:0010804Tented upper lip vermilion0ZIC2 CL E G H7546280200ORPHA112315412873603073
HP:0010804HP:0010804Tented upper lip vermilion0ZNHIT3 CL E G H9326260565PEHO syndrome260565C1850055OMIM119912309604500
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0010804HP:0010804Tented upper lip vermilion0PIGN CL E G H23556280633Multiple congenital anomalies-hypotonia-seizures syndromeCN228166ORPHA0344168967606097
HP:0010804HP:0010804Tented upper lip vermilion0RYR1 CL E G H626198905ORPHA0688309410483180901


Genes (64) :ACTA1 ADAMTSL1 ALDH6A1 ATRX BRAT1 CDON CHAMP1 DCHS1 DEAF1 DIS3L2 DISP1 DLL1 EEF1A2 FAT4 FGF8 FGFR1 FLII FOXG1 FOXH1 GAS1 GLI2 HACD1 IER3IP1 IL1RAPL1 IQSEC2 ITGA7 KCNJ6 MAP3K20 MBD5 MECP2 MED25 MEIS2 MYL2 NEXMIF NODAL NXN PAX3 PGAP2 PGAP3 PIGN PIGO PIGV PIGW PLAA PPP2R1A PREPL PTCH1 RAI1 ROR2 RSPRY1 RYR1 SELENON SHH SIX3 SLC25A46 SUFU TBCK TDGF1 TGIF1 TMEM237 TPM2 TPM3 ZIC2 ZNHIT3

Diseases (45) :2020 521445 614105 847 309580 618056 280200 616579 601390 819 615828 267000 616393 615546 261144 614231 300143 435628 614098 228402 1762 300260 616449 600987 85277 1507 894 896 614207 615716 2059 280633 614749 239300 616025 521426 617527 616362 616224 616723 98905 616505 616900 614424 260565
 

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