Human Phenotype Ontology 
Grandparent Node:
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Abnormal upper lip morphology (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 entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0010804HP:0010804Tented upper lip vermilion0ADAMTSL1 CL E G H9294914632ORPHA:521445Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndromeHP:0040282 - Frequent
HP:0010804HP:0010804Tented upper lip vermilion0ALDH6A1 CL E G H43297179OMIM:614105Methylmalonate semialdehyde dehydrogenase deficiency.35
HP:0010804HP:0010804Tented upper lip vermilion0ANKRD11 CL E G H2912321316OMIM:148050Kbg syndrome102
HP:0010804HP:0010804Tented upper lip vermilion0ATRX CL E G H546886ORPHA:847Alpha-thalassemia-X-linked intellectual disability syndromeHP:0040282 - Frequent169
HP:0010804HP:0010804Tented upper lip vermilion0ATRX CL E G H546886OMIM:309580Mental retardation-hypotonic facies syndrome, X-linked, 1.169
HP:0010804HP:0010804Tented upper lip vermilion0BAP1 CL E G H8314950OMIM:619762KURY-ISIDOR SYNDROME; KURIS184
HP:0010804HP:0010804Tented upper lip vermilion0BRAT1 CL E G H22192721701OMIM:618056Neurodevelopmental disorder with cerebellar atrophy and with or without seizures.20
HP:0010804HP:0010804Tented upper lip vermilion0CDC42 CL E G H9981736ORPHA:487796Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndromeHP:0040283 - Occasional6
HP:0010804HP:0010804Tented upper lip vermilion0CDON CL E G H5093717104ORPHA:280200Microform holoprosencephalyHP:0040282 - Frequent200
HP:0010804HP:0010804Tented upper lip vermilion0CHAMP1 CL E G H28348920311OMIM:616579Mental retardation, autosomal dominant 40.16
HP:0010804HP:0010804Tented upper lip vermilion0CHMP1A CL E G H51198740OMIM:614961Pontocerebellar hypoplasia, type 819
HP:0010804HP:0010804Tented upper lip vermilion0CLCN3 CL E G H11822021OMIM:619517NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ABNORMALITIES; NEDSBA2
HP:0010804HP:0010804Tented upper lip vermilion0CSF1R CL E G H14362433OMIM:618476Brain abnormalities, neurodegeneration, and dysosteosclerosis149
HP:0010804HP:0010804Tented upper lip vermilion0CYFIP2 CL E G H2699913760OMIM:618008EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65; EIEE651
HP:0010804HP:0010804Tented upper lip vermilion0DCHS1 CL E G H864213681OMIM:601390Van maldergem syndrome 1.27
HP:0010804HP:0010804Tented upper lip vermilion0DDB1 CL E G H16422717OMIM:619426WHITE-KERNOHAN SYNDROME; WHIKERS
HP:0010804HP:0010804Tented upper lip vermilion0DEAF1 CL E G H1052214677OMIM:615828Mental retardation, autosomal dominant 24.33
HP:0010804HP:0010804Tented upper lip vermilion0DEAF1 CL E G H1052214677ORPHA:819Smith-Magenis syndromeHP:0040281 - Very frequent33
HP:0010804HP:0010804Tented upper lip vermilion0DIS3L2 CL E G H12956328648OMIM:267000Perlman syndrome.164
HP:0010804HP:0010804Tented upper lip vermilion0DISP1 CL E G H8497619711ORPHA:280200Microform holoprosencephalyHP:0040282 - Frequent22
HP:0010804HP:0010804Tented upper lip vermilion0DLK1 CL E G H87882907ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040283 - Occasional1
HP:0010804HP:0010804Tented upper lip vermilion0DLL1 CL E G H285142908ORPHA:280200Microform holoprosencephalyHP:0040282 - Frequent3
HP:0010804HP:0010804Tented upper lip vermilion0DMPK CL E G H17602933ORPHA:589821Congenital-onset Steinert myotonic dystrophy152
HP:0010804HP:0010804Tented upper lip vermilion0DPM1 CL E G H88133005ORPHA:79322DPM1-CDGHP:0040283 - Occasional27
HP:0010804HP:0010804Tented upper lip vermilion0EEF1A2 CL E G H19173192OMIM:616393Mental retardation, autosomal dominant 38.60
HP:0010804HP:0010804Tented upper lip vermilion0FAT4 CL E G H7963323109OMIM:615546Van maldergem syndrome 2.114
HP:0010804HP:0010804Tented upper lip vermilion0FBXO28 CL E G H2321929046OMIM:619777DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0010804HP:0010804Tented upper lip vermilion0FGF8 CL E G H22533686ORPHA:280200Microform holoprosencephalyHP:0040282 - Frequent17
HP:0010804HP:0010804Tented upper lip vermilion0FGFR1 CL E G H22603688ORPHA:280200Microform holoprosencephalyHP:0040282 - Frequent172
HP:0010804HP:0010804Tented upper lip vermilion0FLII CL E G H23143750ORPHA:819Smith-Magenis syndromeHP:0040281 - Very frequent
HP:0010804HP:0010804Tented upper lip vermilion0FOXG1 CL E G H22903811ORPHA:261144FOXG1 syndrome due to 14q12 microdeletionHP:0040281 - Very frequent177
HP:0010804HP:0010804Tented upper lip vermilion0FOXH1 CL E G H89283814ORPHA:280200Microform holoprosencephalyHP:0040282 - Frequent48
HP:0010804HP:0010804Tented upper lip vermilion0GALNT2 CL E G H25904124OMIM:618885CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T
HP:0010804HP:0010804Tented upper lip vermilion0GAS1 CL E G H26194165ORPHA:280200Microform holoprosencephalyHP:0040282 - Frequent2
HP:0010804HP:0010804Tented upper lip vermilion0GLI2 CL E G H27364318ORPHA:280200Microform holoprosencephalyHP:0040282 - Frequent173
HP:0010804HP:0010804Tented upper lip vermilion0GNAI1 CL E G H27704384OMIM:619854
HP:0010804HP:0010804Tented upper lip vermilion0GPC4 CL E G H22394452ORPHA:2662Keipert syndromeHP:0040282 - Frequent
HP:0010804HP:0010804Tented upper lip vermilion0H3-3A CL E G H30204764OMIM:619720BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0010804HP:0010804Tented upper lip vermilion0HOXB1 CL E G H32115111OMIM:614744Facial paresis, hereditary congenital, 32
HP:0010804HP:0010804Tented upper lip vermilion0IER3IP1 CL E G H5112418550OMIM:614231Microcephaly, epilepsy, and diabetes syndrome.6
HP:0010804HP:0010804Tented upper lip vermilion0IL1RAPL1 CL E G H111415996OMIM:300143Mental retardation, X-linked 21.42
HP:0010804HP:0010804Tented upper lip vermilion0IQSEC2 CL E G H2309629059ORPHA:819Smith-Magenis syndromeHP:0040281 - Very frequent119
HP:0010804HP:0010804Tented upper lip vermilion0KCNH1 CL E G H37566250ORPHA:420561Temple-Baraitser syndromeHP:0040283 - Occasional13
HP:0010804HP:0010804Tented upper lip vermilion0KCNJ6 CL E G H37636267ORPHA:435628Keppen-Lubinsky syndromeHP:0040282 - Frequent3
HP:0010804HP:0010804Tented upper lip vermilion0KCNJ6 CL E G H37636267OMIM:614098Keppen-Lubinsky syndrome.3
HP:0010804HP:0010804Tented upper lip vermilion0KCNK9 CL E G H513056283OMIM:612292BIRK-BAREL SYNDROME4
HP:0010804HP:0010804Tented upper lip vermilion0KCNK9 CL E G H513056283ORPHA:166108Intellectual disability, Birk-Barel typeHP:0040282 - Frequent4
HP:0010804HP:0010804Tented upper lip vermilion0KDM4B CL E G H2303029136OMIM:619320INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0010804HP:0010804Tented upper lip vermilion0MBD5 CL E G H5577720444ORPHA:2284022q23.1 microdeletion syndromeHP:0040282 - Frequent252
HP:0010804HP:0010804Tented upper lip vermilion0MECP2 CL E G H42046990OMIM:300260Mental retardation, x-linked syndromic, Lubs type.950
HP:0010804HP:0010804Tented upper lip vermilion0MECP2 CL E G H42046990ORPHA:1762Proximal Xq28 duplication syndromeHP:0040281 - Very frequent950
HP:0010804HP:0010804Tented upper lip vermilion0MED25 CL E G H8185728845OMIM:616449Basel-Vanagaite-Smirin-Yosef syndrome.43
HP:0010804HP:0010804Tented upper lip vermilion0MED25 CL E G H8185728845ORPHA:464738Basel-Vanagaite-Smirin-Yosef syndromeHP:0040282 - Frequent43
HP:0010804HP:0010804Tented upper lip vermilion0MEG3 CL E G H5538414575ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040283 - Occasional1
HP:0010804HP:0010804Tented upper lip vermilion0MEIS2 CL E G H42127001OMIM:600987Cleft palate, cardiac defects, and mental retardation.7
HP:0010804HP:0010804Tented upper lip vermilion0MESD CL E G H2318413520OMIM:618644OSTEOGENESIS IMPERFECTA, TYPE XX; OI20
HP:0010804HP:0010804Tented upper lip vermilion0MICU1 CL E G H103671530OMIM:615673Myopathy with extrapyramidal signs14
HP:0010804HP:0010804Tented upper lip vermilion0MSL3 CL E G H109437370OMIM:301032BASILICATA-AKHTAR SYNDROME; MRXSBA
HP:0010804HP:0010804Tented upper lip vermilion0MYL2 CL E G H46337583OMIM:619424MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY; MFM12131
HP:0010804HP:0010804Tented upper lip vermilion0MYOD1 CL E G H46547611OMIM:618975MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES; MYODRIF
HP:0010804HP:0010804Tented upper lip vermilion0NALCN CL E G H25923219082ORPHA:371364Hypotonia-speech impairment-severe cognitive delay syndromeHP:0040282 - Frequent48
HP:0010804HP:0010804Tented upper lip vermilion0NCAPG2 CL E G H5489221904OMIM:618460Khan-Khan-Katsanis syndrome.2
HP:0010804HP:0010804Tented upper lip vermilion0NEXMIF CL E G H34053329433OMIM:300912Mental retardation, X-linked 9852
HP:0010804HP:0010804Tented upper lip vermilion0NEXMIF CL E G H34053329433ORPHA:85277X-linked intellectual disability, Cantagrel typeHP:0040281 - Very frequent52
HP:0010804HP:0010804Tented upper lip vermilion0NODAL CL E G H48387865ORPHA:280200Microform holoprosencephalyHP:0040282 - Frequent45
HP:0010804HP:0010804Tented upper lip vermilion0NRCAM CL E G H48977994OMIM:6198332
HP:0010804HP:0010804Tented upper lip vermilion0NSRP1 CL E G H8408125305OMIM:620001
HP:0010804HP:0010804Tented upper lip vermilion0NXN CL E G H6435918008ORPHA:1507Autosomal recessive Robinow syndromeHP:0040282 - Frequent2
HP:0010804HP:0010804Tented upper lip vermilion0PAX3 CL E G H50778617ORPHA:894Waardenburg syndrome type 1HP:0040282 - Frequent59
HP:0010804HP:0010804Tented upper lip vermilion0PAX3 CL E G H50778617ORPHA:896Waardenburg syndrome type 3HP:0040281 - Very frequent59
HP:0010804HP:0010804Tented upper lip vermilion0PGAP2 CL E G H2731517893OMIM:614207Hyperphosphatasia with mental retardation syndrome 3.8
HP:0010804HP:0010804Tented upper lip vermilion0PGAP2 CL E G H2731517893ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040282 - Frequent8
HP:0010804HP:0010804Tented upper lip vermilion0PGAP3 CL E G H9321023719OMIM:615716Hyperphosphatasia with mental retardation syndrome 4.20
HP:0010804HP:0010804Tented upper lip vermilion0PGAP3 CL E G H9321023719ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040282 - Frequent20
HP:0010804HP:0010804Tented upper lip vermilion0PIGB CL E G H94888959OMIM:618580DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80; DEE80
HP:0010804HP:0010804Tented upper lip vermilion0PIGL CL E G H94878966ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040282 - Frequent36
HP:0010804HP:0010804Tented upper lip vermilion0PIGN CL E G H235568967ORPHA:2059Fryns syndromeHP:0040281 - Very frequent37
HP:0010804HP:0010804Tented upper lip vermilion0PIGN CL E G H235568967ORPHA:280633Multiple congenital anomalies-hypotonia-seizures syndromeHP:0040283 - Occasional37
HP:0010804HP:0010804Tented upper lip vermilion0PIGO CL E G H8472023215OMIM:614749Hyperphosphatasia with mental retardation syndrome 284
HP:0010804HP:0010804Tented upper lip vermilion0PIGO CL E G H8472023215ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040282 - Frequent84
HP:0010804HP:0010804Tented upper lip vermilion0PIGT CL E G H5160414938ORPHA:369837Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndromeHP:0040283 - Occasional12
HP:0010804HP:0010804Tented upper lip vermilion0PIGV CL E G H5565026031OMIM:239300Hyperphosphatasia with mental retardation.57
HP:0010804HP:0010804Tented upper lip vermilion0PIGV CL E G H5565026031ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040282 - Frequent57
HP:0010804HP:0010804Tented upper lip vermilion0PIGW CL E G H28409823213OMIM:616025Glycosylphosphatidylinositol biosynthesis defect 11.6
HP:0010804HP:0010804Tented upper lip vermilion0PIGW CL E G H28409823213ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040282 - Frequent6
HP:0010804HP:0010804Tented upper lip vermilion0PIGY CL E G H8499228213ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040282 - Frequent2
HP:0010804HP:0010804Tented upper lip vermilion0PLAA CL E G H93739043OMIM:617527Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies.3
HP:0010804HP:0010804Tented upper lip vermilion0PLAA CL E G H93739043ORPHA:521426PLAA-associated neurodevelopmental disorderHP:0040282 - Frequent3
HP:0010804HP:0010804Tented upper lip vermilion0PPP1R21 CL E G H12928530595OMIM:619383NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0010804HP:0010804Tented upper lip vermilion0PPP2R1A CL E G H55189302OMIM:616362Mental retardation, autosomal dominant 36.13
HP:0010804HP:0010804Tented upper lip vermilion0PREPL CL E G H958130228OMIM:616224Myasthenic syndrome, congenital, 22.7
HP:0010804HP:0010804Tented upper lip vermilion0PRKACB CL E G H55679381OMIM:619143CARDIOACROFACIAL DYSPLASIA 2; CAFD22
HP:0010804HP:0010804Tented upper lip vermilion0PTCH1 CL E G H57279585ORPHA:280200Microform holoprosencephalyHP:0040282 - Frequent665
HP:0010804HP:0010804Tented upper lip vermilion0PURA CL E G H58139701OMIM:616158Mental retardation, autosomal dominant 3153
HP:0010804HP:0010804Tented upper lip vermilion0PURA CL E G H58139701ORPHA:438216PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutationHP:0040283 - Occasional53
HP:0010804HP:0010804Tented upper lip vermilion0PURA CL E G H58139701ORPHA:314655Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletionHP:0040282 - Frequent53
HP:0010804HP:0010804Tented upper lip vermilion0RAB11B CL E G H92309761OMIM:617807Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter.
HP:0010804HP:0010804Tented upper lip vermilion0RAI1 CL E G H107439834ORPHA:819Smith-Magenis syndromeHP:0040281 - Very frequent150
HP:0010804HP:0010804Tented upper lip vermilion0RAPSN CL E G H59139863OMIM:618388FETAL AKINESIA DEFORMATION SEQUENCE 2; FADS273
HP:0010804HP:0010804Tented upper lip vermilion0ROR2 CL E G H492010257ORPHA:1507Autosomal recessive Robinow syndromeHP:0040282 - Frequent120
HP:0010804HP:0010804Tented upper lip vermilion0ROR2 CL E G H492010257OMIM:268310Robinow syndrome, autosomal recessive120
HP:0010804HP:0010804Tented upper lip vermilion0RSPRY1 CL E G H8997029420ORPHA:457395Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndromeHP:0040281 - Very frequent2
HP:0010804HP:0010804Tented upper lip vermilion0RSPRY1 CL E G H8997029420OMIM:616723Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type.2
HP:0010804HP:0010804Tented upper lip vermilion0RTL1 CL E G H38801514665ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040283 - Occasional
HP:0010804HP:0010804Tented upper lip vermilion0RYR1 CL E G H626110483ORPHA:98905Congenital multicore myopathy with external ophthalmoplegiaHP:0040283 - Occasional1200
HP:0010804HP:0010804Tented upper lip vermilion0SHH CL E G H646910848ORPHA:280200Microform holoprosencephalyHP:0040282 - Frequent67
HP:0010804HP:0010804Tented upper lip vermilion0SIX3 CL E G H649610889ORPHA:280200Microform holoprosencephalyHP:0040282 - Frequent32
HP:0010804HP:0010804Tented upper lip vermilion0SLC25A46 CL E G H9113725198OMIM:616505Neuropathy, hereditary motor and sensory, type VIB.14
HP:0010804HP:0010804Tented upper lip vermilion0SMPD4 CL E G H5562732949OMIM:618622NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA1
HP:0010804HP:0010804Tented upper lip vermilion0STRADA CL E G H9233530172ORPHA:500533Polyhydramnios-megalencephaly-symptomatic epilepsy syndromeHP:0040283 - Occasional6
HP:0010804HP:0010804Tented upper lip vermilion0SUFU CL E G H5168416466ORPHA:280200Microform holoprosencephalyHP:0040282 - Frequent124
HP:0010804HP:0010804Tented upper lip vermilion0TAF8 CL E G H12968517300OMIM:619972
HP:0010804HP:0010804Tented upper lip vermilion0TBCK CL E G H9362728261OMIM:616900Hypotonia, infantile, with psychomotor retardation and characteristic facies 313
HP:0010804HP:0010804Tented upper lip vermilion0TBCK CL E G H9362728261ORPHA:488632TBCK-related intellectual disability syndromeHP:0040283 - Occasional13
HP:0010804HP:0010804Tented upper lip vermilion0TCF20 CL E G H694211631OMIM:618430Developmental delay with variable intellectual impairment and behavioral abnormalities.1
HP:0010804HP:0010804Tented upper lip vermilion0TDGF1 CL E G H699711701ORPHA:280200Microform holoprosencephalyHP:0040282 - Frequent1
HP:0010804HP:0010804Tented upper lip vermilion0TGFB3 CL E G H704311769OMIM:615582LOEYS-DIETZ SYNDROME 5; LDS585
HP:0010804HP:0010804Tented upper lip vermilion0TGIF1 CL E G H705011776ORPHA:280200Microform holoprosencephalyHP:0040282 - Frequent32
HP:0010804HP:0010804Tented upper lip vermilion0TMEM147 CL E G H1043030414OMIM:620075
HP:0010804HP:0010804Tented upper lip vermilion0TMEM237 CL E G H6506214432OMIM:614424Joubert syndrome 14.82
HP:0010804HP:0010804Tented upper lip vermilion0TTC5 CL E G H9187519274OMIM:619244NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM; NEDCAFD
HP:0010804HP:0010804Tented upper lip vermilion0UNC80 CL E G H28517526582ORPHA:371364Hypotonia-speech impairment-severe cognitive delay syndromeHP:0040282 - Frequent23
HP:0010804HP:0010804Tented upper lip vermilion0WDR4 CL E G H1078512756OMIM:618346Microcephaly, growth deficiency, seizures, and brain malformations.
HP:0010804HP:0010804Tented upper lip vermilion0ZIC2 CL E G H754612873ORPHA:280200Microform holoprosencephalyHP:0040282 - Frequent34
HP:0010804HP:0010804Tented upper lip vermilion0ZNHIT3 CL E G H932612309OMIM:260565Peho syndrome1


Genes (105) :ADAMTSL1 ALDH6A1 ANKRD11 ATRX BAP1 BRAT1 CDC42 CDON CHAMP1 CHMP1A CLCN3 CSF1R CYFIP2 DCHS1 DDB1 DEAF1 DIS3L2 DISP1 DLK1 DLL1 DMPK DPM1 EEF1A2 FAT4 FBXO28 FGF8 FGFR1 FLII FOXG1 FOXH1 GALNT2 GAS1 GLI2 GNAI1 GPC4 H3-3A HOXB1 IER3IP1 IL1RAPL1 IQSEC2 KCNH1 KCNJ6 KCNK9 KDM4B MBD5 MECP2 MED25 MEG3 MEIS2 MESD MICU1 MSL3 MYL2 MYOD1 NALCN NCAPG2 NEXMIF NODAL NRCAM NSRP1 NXN PAX3 PGAP2 PGAP3 PIGB PIGL PIGN PIGO PIGT PIGV PIGW PIGY PLAA PPP1R21 PPP2R1A PREPL PRKACB PTCH1 PURA RAB11B RAI1 RAPSN ROR2 RSPRY1 RTL1 RYR1 SHH SIX3 SLC25A46 SMPD4 STRADA SUFU TAF8 TBCK TCF20 TDGF1 TGFB3 TGIF1 TMEM147 TMEM237 TTC5 UNC80 WDR4 ZIC2 ZNHIT3

Diseases (97) :ORPHA:521445 OMIM:614105 OMIM:148050 ORPHA:847 OMIM:309580 OMIM:619762 OMIM:618056 ORPHA:487796 ORPHA:280200 OMIM:616579 OMIM:614961 OMIM:619517 OMIM:618476 OMIM:618008 OMIM:601390 OMIM:619426 OMIM:615828 ORPHA:819 OMIM:267000 ORPHA:96334 ORPHA:589821 ORPHA:79322 OMIM:616393 OMIM:615546 OMIM:619777 ORPHA:261144 OMIM:618885 OMIM:619854 ORPHA:2662 OMIM:619720 OMIM:614744 OMIM:614231 OMIM:300143 ORPHA:420561 ORPHA:435628 OMIM:614098 OMIM:612292 ORPHA:166108 OMIM:619320 ORPHA:228402 OMIM:300260 ORPHA:1762 OMIM:616449 ORPHA:464738 OMIM:600987 OMIM:618644 OMIM:615673 OMIM:301032 OMIM:619424 OMIM:618975 ORPHA:371364 OMIM:618460 OMIM:300912 ORPHA:85277 OMIM:619833 OMIM:620001 ORPHA:1507 ORPHA:894 ORPHA:896 OMIM:614207 ORPHA:247262 OMIM:615716 OMIM:618580 ORPHA:2059 ORPHA:280633 OMIM:614749 ORPHA:369837 OMIM:239300 OMIM:616025 OMIM:617527 ORPHA:521426 OMIM:619383 OMIM:616362 OMIM:616224 OMIM:619143 OMIM:616158 ORPHA:438216 ORPHA:314655 OMIM:617807 OMIM:618388 OMIM:268310 ORPHA:457395 OMIM:616723 ORPHA:98905 OMIM:616505 OMIM:618622 ORPHA:500533 OMIM:619972 OMIM:616900 ORPHA:488632 OMIM:618430 OMIM:615582 OMIM:620075 OMIM:614424 OMIM:619244 OMIM:618346 OMIM:260565
 

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