Human Phenotype Ontology 
Grandparent Node:
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Abnormality of skin morphology (HP:0011121)help
Parent Node:
expand
Localized skin lesion (HP:0011355)help
..Starting node
..expand
Skin tags (HP:0010609)help
Term ID: 10609
Name: Skin tags
Synonym: Acrochorda
Definition: Cutaneous skin tags also known as acrochorda or fibroepithelial polyps are small benign tumours that may either form secondarily over time primarily in areas where the skin forms creases, such as the neck, armpit or groin or may also be present at birth, in which case they usually occur in the periauricular region.
Comments:
Reference: HP:0010609
Genes and Diseases:
 
       Child Nodes:
........expandPreauricular skin tag (HP:0000384) help

 Sister Nodes: 
..expandAbnormal perifollicular morphology (HP:0031285) help
..expandAnnular cutaneous lesion (HP:0025528) help
..expandAplasia/Hypoplasia of the skin (HP:0008065) help
..expandAtypical scarring of skin (HP:0000987) help
..expandCafe-au-lait spot (HP:0000957) help
..expandCapillary malformation (HP:0025104) help
..expandComedo (HP:0025249) help
..expandCutaneous cyst (HP:0025245) help
..expandHypopigmented skin patches (HP:0001053) help
..expandLichenoid skin lesion (HP:0031452) help
..expandMacule (HP:0012733) help
..expandMilia (HP:0001056) help
..expandMolluscoid pseudotumors (HP:0000993) help
..expandNevus (HP:0003764) help
..expandPapule (HP:0200034) help
..expandSerpiginous cutaneous lesion (HP:0025527) help
..expandSkin dimple (HP:0010781) help
..expandSkin erosion (HP:0200041) help
..expandSkin fissure (HP:0031057) help
..expandSkin nodule (HP:0200036) help
..expandSkin pit (HP:0100276) help
..expandSkin plaque (HP:0200035) help
..expandSkin ulcer (HP:0200042) help
..expandSkin vesicle (HP:0200037) help
..expandXanthomatosis (HP:0000991) 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:0010609HP:0010609Skin tags0AKT1 CL E G H207391OMIM:615109Cowden syndrome 6.54
HP:0010609HP:0010609Skin tags0ALX1 CL E G H80921494ORPHA:306542Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome5
HP:0010609HP:0010609Skin tags0ALX3 CL E G H257449OMIM:136760Frontonasal dysplasia 19
HP:0010609HP:0010609Skin tags0ALX3 CL E G H257449ORPHA:391474Frontorhiny9
HP:0010609HP:0010609Skin tags0ANKRD11 CL E G H2912321316ORPHA:26125016q24.3 microdeletion syndrome102
HP:0010609HP:0010609Skin tags0ANTXR1 CL E G H8416821014ORPHA:2067GAPO syndromeHP:0040282 - Frequent8
HP:0010609HP:0010609Skin tags0ARID1B CL E G H5749218040OMIM:135900Coffin-Siris syndrome 1219
HP:0010609HP:0010609Skin tags0B3GLCT CL E G H14517320207ORPHA:709Peters plus syndrome36
HP:0010609HP:0010609Skin tags0BCOR CL E G H5488020893ORPHA:568Microphthalmia, Lenz type101
HP:0010609HP:0010609Skin tags0BRF1 CL E G H297211551OMIM:616202Cerebellofaciodental syndrome7
HP:0010609HP:0010609Skin tags0CCDC22 CL E G H2895228909ORPHA:73C syndrome33
HP:0010609HP:0010609Skin tags0CHD7 CL E G H5563620626ORPHA:138CHARGE syndrome515
HP:0010609HP:0010609Skin tags0CHN1 CL E G H11231943ORPHA:233Duane retraction syndrome35
HP:0010609HP:0010609Skin tags0COL2A1 CL E G H12802200ORPHA:93315Spondylometaphyseal dysplasia, 'corner fracture' type284
HP:0010609HP:0010609Skin tags0CPLX1 CL E G H108152309OMIM:194190Wolf-Hirschhorn syndrome1
HP:0010609HP:0010609Skin tags0CTBP1 CL E G H14872494OMIM:194190Wolf-Hirschhorn syndrome2
HP:0010609HP:0010609Skin tags0CTNND2 CL E G H15012516ORPHA:281Monosomy 5p15
HP:0010609HP:0010609Skin tags0DACT1 CL E G H5133917748ORPHA:857Townes-Brocks syndrome2
HP:0010609HP:0010609Skin tags0EDN1 CL E G H19063176ORPHA:137888Auriculocondylar syndrome6
HP:0010609HP:0010609Skin tags0EDNRA CL E G H19093179OMIM:616367Mandibulofacial dysostosis with alopecia3
HP:0010609HP:0010609Skin tags0EFTUD2 CL E G H934330858OMIM:610536Mandibulofacial dysostosis, Guion-Almeida type48
HP:0010609HP:0010609Skin tags0EFTUD2 CL E G H934330858ORPHA:79113Mandibulofacial dysostosis-microcephaly syndrome48
HP:0010609HP:0010609Skin tags0EXT2 CL E G H21323513OMIM:616682Seizures, scoliosis, and macrocephaly/microcephaly syndrome102
HP:0010609HP:0010609Skin tags0EYA1 CL E G H21383519ORPHA:107BOR syndrome135
HP:0010609HP:0010609Skin tags0EYA1 CL E G H21383519ORPHA:52429Branchiootic syndrome135
HP:0010609HP:0010609Skin tags0EYA1 CL E G H21383519OMIM:113650Branchiootorenal syndrome 1135
HP:0010609HP:0010609Skin tags0FGF3 CL E G H22483681ORPHA:90024Deafness with labyrinthine aplasia, microtia, and microdontiaHP:0040283 - Occasional18
HP:0010609HP:0010609Skin tags0FGF3 CL E G H22483681OMIM:610706Deafness, congenital, with inner ear agenesis, microtia, and microdontia.18
HP:0010609HP:0010609Skin tags0FGFR1 CL E G H22603688OMIM:190440Trigonocephaly 1172
HP:0010609HP:0010609Skin tags0FGFR2 CL E G H22633689OMIM:123790Beare-Stevenson cutis gyrata syndrome175
HP:0010609HP:0010609Skin tags0FGFRL1 CL E G H538343693OMIM:194190Wolf-Hirschhorn syndrome
HP:0010609HP:0010609Skin tags0FLCN CL E G H20116327310ORPHA:122Birt-Hogg-Dubé syndromeHP:0040281 - Very frequent332
HP:0010609HP:0010609Skin tags0FLNB CL E G H23173755OMIM:272460Spondylocarpotarsal synostosis syndrome233
HP:0010609HP:0010609Skin tags0FN1 CL E G H23353778ORPHA:93315Spondylometaphyseal dysplasia, 'corner fracture' type9
HP:0010609HP:0010609Skin tags0GNAI3 CL E G H27734387ORPHA:137888Auriculocondylar syndrome2
HP:0010609HP:0010609Skin tags0GNAI3 CL E G H27734387OMIM:602483Auriculocondylar syndrome 12
HP:0010609HP:0010609Skin tags0GPC3 CL E G H27194451OMIM:312870Simpson-golabi-behmel syndrome, type 173
HP:0010609HP:0010609Skin tags0GPC4 CL E G H22394452OMIM:312870Simpson-golabi-behmel syndrome, type 1
HP:0010609HP:0010609Skin tags0H4C3 CL E G H83644787OMIM:619758TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1
HP:0010609HP:0010609Skin tags0H4C5 CL E G H83674790OMIM:619950
HP:0010609HP:0010609Skin tags0H4C9 CL E G H82944793OMIM:619951
HP:0010609HP:0010609Skin tags0HNRNPU CL E G H31925048ORPHA:2387691q44 microdeletion syndrome39
HP:0010609HP:0010609Skin tags0IRX5 CL E G H1026514361OMIM:611174Hamamy syndrome4
HP:0010609HP:0010609Skin tags0KDM6A CL E G H740312637ORPHA:2322Kabuki syndrome53
HP:0010609HP:0010609Skin tags0KIF7 CL E G H37465430497OMIM:200990Acrocallosal syndrome167
HP:0010609HP:0010609Skin tags0KMT2D CL E G H80857133ORPHA:2322Kabuki syndrome660
HP:0010609HP:0010609Skin tags0LETM1 CL E G H39546556OMIM:194190Wolf-Hirschhorn syndrome2
HP:0010609HP:0010609Skin tags0LRP5 CL E G H40416697ORPHA:2788Osteoporosis-pseudoglioma syndrome125
HP:0010609HP:0010609Skin tags0MAFB CL E G H99356408ORPHA:233Duane retraction syndrome63
HP:0010609HP:0010609Skin tags0MED12 CL E G H996811957OMIM:305450Opitz-Kaveggia syndrome.228
HP:0010609HP:0010609Skin tags0MED13L CL E G H2338922962ORPHA:369891Developmental delay-facial dysmorphism syndrome due to MED13L deficiency74
HP:0010609HP:0010609Skin tags0MSL3 CL E G H109437370OMIM:301032BASILICATA-AKHTAR SYNDROME; MRXSBA
HP:0010609HP:0010609Skin tags0NAA10 CL E G H826018704ORPHA:568Microphthalmia, Lenz type23
HP:0010609HP:0010609Skin tags0NSD2 CL E G H746812766OMIM:194190Wolf-Hirschhorn syndrome118
HP:0010609HP:0010609Skin tags0NSMCE2 CL E G H28605326513OMIM:617253Seckel syndrome 10.2
HP:0010609HP:0010609Skin tags0ODC1 CL E G H49538109ORPHA:544488Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome1
HP:0010609HP:0010609Skin tags0PIGS CL E G H9400514937OMIM:618143GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0010609HP:0010609Skin tags0PIK3CA CL E G H52908975OMIM:615108Cowden syndrome 5.162
HP:0010609HP:0010609Skin tags0PLCB4 CL E G H53329059ORPHA:137888Auriculocondylar syndrome82
HP:0010609HP:0010609Skin tags0POLR1B CL E G H8417220454ORPHA:861Treacher-Collins syndrome
HP:0010609HP:0010609Skin tags0POLR1C CL E G H953320194ORPHA:861Treacher-Collins syndrome38
HP:0010609HP:0010609Skin tags0POLR1D CL E G H5108220422ORPHA:861Treacher-Collins syndrome31
HP:0010609HP:0010609Skin tags0PRMT7 CL E G H5449625557ORPHA:464288Short stature-brachydactyly-obesity-global developmental delay syndrome6
HP:0010609HP:0010609Skin tags0PTCH1 CL E G H57279585OMIM:109400Basal cell nevus syndrome665
HP:0010609HP:0010609Skin tags0PTCH2 CL E G H86439586OMIM:109400Basal cell nevus syndrome40
HP:0010609HP:0010609Skin tags0PTEN CL E G H57289588OMIM:158350Cowden syndrome 1.948
HP:0010609HP:0010609Skin tags0PUF60 CL E G H2282717042ORPHA:5084888q24.3 microdeletion syndromeHP:0040283 - Occasional19
HP:0010609HP:0010609Skin tags0RIPK4 CL E G H54101496OMIM:263650Popliteal pterygium syndrome, Bartsocas-Papas type 169
HP:0010609HP:0010609Skin tags0SALL1 CL E G H629910524ORPHA:857Townes-Brocks syndrome124
HP:0010609HP:0010609Skin tags0SALL1 CL E G H629910524OMIM:107480Townes-Brocks syndrome 1124
HP:0010609HP:0010609Skin tags0SALL4 CL E G H5716715924ORPHA:233Duane retraction syndrome86
HP:0010609HP:0010609Skin tags0SEMA3E CL E G H972310727ORPHA:138CHARGE syndrome16
HP:0010609HP:0010609Skin tags0SEMA5A CL E G H903710736ORPHA:281Monosomy 5p6
HP:0010609HP:0010609Skin tags0SF3B2 CL E G H1099210769OMIM:164210Hemifacial microsomia2
HP:0010609HP:0010609Skin tags0SF3B4 CL E G H1026210771OMIM:154400Acrofacial dysostosis 1, Nager type49
HP:0010609HP:0010609Skin tags0SIX1 CL E G H649510887ORPHA:107BOR syndrome50
HP:0010609HP:0010609Skin tags0SIX1 CL E G H649510887ORPHA:52429Branchiootic syndrome50
HP:0010609HP:0010609Skin tags0SIX1 CL E G H649510887OMIM:608389Branchiootic syndrome 350
HP:0010609HP:0010609Skin tags0SIX1 CL E G H649510887OMIM:113650Branchiootorenal syndrome 150
HP:0010609HP:0010609Skin tags0SIX5 CL E G H14791210891ORPHA:107BOR syndrome10
HP:0010609HP:0010609Skin tags0SIX5 CL E G H14791210891OMIM:610896Branchiootorenal syndrome 210
HP:0010609HP:0010609Skin tags0SMARCA2 CL E G H659511098OMIM:601358Nicolaides-Baraitser syndrome146
HP:0010609HP:0010609Skin tags0SNRPN CL E G H663811164ORPHA:177907Prader-Willi syndrome due to translocation37
HP:0010609HP:0010609Skin tags0STAG2 CL E G H1073511355OMIM:301022Neurodevelopmental disorder, X-linked, with craniofacial abnormalities1
HP:0010609HP:0010609Skin tags0SUFU CL E G H5168416466OMIM:109400Basal cell nevus syndrome124
HP:0010609HP:0010609Skin tags0SVBP CL E G H37496929204OMIM:618569NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM
HP:0010609HP:0010609Skin tags0TASP1 CL E G H5561715859OMIM:618950SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0010609HP:0010609Skin tags0TCOF1 CL E G H694911654OMIM:154500Treacher collins-franceschetti syndrome140
HP:0010609HP:0010609Skin tags0TCOF1 CL E G H694911654ORPHA:861Treacher-Collins syndrome140
HP:0010609HP:0010609Skin tags0TMEM260 CL E G H5491620185OMIM:617478Structural heart defects and renal anomalies syndrome2
HP:0010609HP:0010609Skin tags0TXNL4A CL E G H1090730551OMIM:608572Burn-Mckeown syndrome19
HP:0010609HP:0010609Skin tags0UBE3B CL E G H8991013478OMIM:244450Kaufman oculocerebrofacial syndrome13
HP:0010609HP:0010609Skin tags0UBE3B CL E G H8991013478ORPHA:2707Oculocerebrofacial syndrome, Kaufman type13
HP:0010609HP:0010609Skin tags0VPS13B CL E G H1576802183ORPHA:193Cohen syndrome546
HP:0010609HP:0010609Skin tags0WASHC5 CL E G H989728984ORPHA:73C syndrome83
HP:0010609HP:0010609Skin tags0WBP11 CL E G H5172916461OMIM:619227VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS; VCTERL
HP:0010609HP:0010609Skin tags0WLS CL E G H7997130238OMIM:619648ZAKI SYNDROME; ZKS
HP:0010609HP:0000384Preauricular skin tag1ALX1 CL E G H80921494ORPHA:306542Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndromeHP:0040282 - Frequent5
HP:0010609HP:0000384Preauricular skin tag1ALX3 CL E G H257449OMIM:136760Frontonasal dysplasia 1.9
HP:0010609HP:0000384Preauricular skin tag1ALX3 CL E G H257449ORPHA:391474FrontorhinyHP:0040282 - Frequent9
HP:0010609HP:0000384Preauricular skin tag1ANKRD11 CL E G H2912321316ORPHA:26125016q24.3 microdeletion syndromeHP:0040283 - Occasional102
HP:0010609HP:0000384Preauricular skin tag1ARID1B CL E G H5749218040OMIM:135900Coffin-Siris syndrome 1.219
HP:0010609HP:0000384Preauricular skin tag1B3GLCT CL E G H14517320207ORPHA:709Peters plus syndromeHP:0040282 - Frequent36
HP:0010609HP:0000384Preauricular skin tag1BCOR CL E G H5488020893ORPHA:568Microphthalmia, Lenz typeHP:0040283 - Occasional101
HP:0010609HP:0000384Preauricular skin tag1BRF1 CL E G H297211551OMIM:616202Cerebellofaciodental syndrome7
HP:0010609HP:0000384Preauricular skin tag1CCDC22 CL E G H2895228909ORPHA:73C syndromeHP:0040283 - Occasional33
HP:0010609HP:0000384Preauricular skin tag1CHD7 CL E G H5563620626ORPHA:138CHARGE syndromeHP:0040283 - Occasional515
HP:0010609HP:0000384Preauricular skin tag1CHN1 CL E G H11231943ORPHA:233Duane retraction syndromeHP:0040283 - Occasional35
HP:0010609HP:0000384Preauricular skin tag1COL2A1 CL E G H12802200ORPHA:93315Spondylometaphyseal dysplasia, 'corner fracture' typeHP:0040283 - Occasional284
HP:0010609HP:0000384Preauricular skin tag1CPLX1 CL E G H108152309OMIM:194190Wolf-Hirschhorn syndrome1
HP:0010609HP:0000384Preauricular skin tag1CTBP1 CL E G H14872494OMIM:194190Wolf-Hirschhorn syndrome2
HP:0010609HP:0000384Preauricular skin tag1CTNND2 CL E G H15012516ORPHA:281Monosomy 5pHP:0040283 - Occasional15
HP:0010609HP:0000384Preauricular skin tag1DACT1 CL E G H5133917748ORPHA:857Townes-Brocks syndromeHP:0040281 - Very frequent2
HP:0010609HP:0000384Preauricular skin tag1EDN1 CL E G H19063176ORPHA:137888Auriculocondylar syndromeHP:0040282 - Frequent6
HP:0010609HP:0000384Preauricular skin tag1EDNRA CL E G H19093179OMIM:616367Mandibulofacial dysostosis with alopeciaHP:0040283 - Occasional3
HP:0010609HP:0000384Preauricular skin tag1EFTUD2 CL E G H934330858OMIM:610536Mandibulofacial dysostosis, Guion-Almeida type.48
HP:0010609HP:0000384Preauricular skin tag1EFTUD2 CL E G H934330858ORPHA:79113Mandibulofacial dysostosis-microcephaly syndromeHP:0040281 - Very frequent48
HP:0010609HP:0000384Preauricular skin tag1EXT2 CL E G H21323513OMIM:616682Seizures, scoliosis, and macrocephaly/microcephaly syndrome.102
HP:0010609HP:0000384Preauricular skin tag1EYA1 CL E G H21383519ORPHA:107BOR syndromeHP:0040282 - Frequent135
HP:0010609HP:0000384Preauricular skin tag1EYA1 CL E G H21383519ORPHA:52429Branchiootic syndromeHP:0040283 - Occasional135
HP:0010609HP:0000384Preauricular skin tag1EYA1 CL E G H21383519OMIM:113650Branchiootorenal syndrome 1.135
HP:0010609HP:0000384Preauricular skin tag1FGFR1 CL E G H22603688OMIM:190440Trigonocephaly 1.172
HP:0010609HP:0000384Preauricular skin tag1FGFRL1 CL E G H538343693OMIM:194190Wolf-Hirschhorn syndrome
HP:0010609HP:0000384Preauricular skin tag1FLNB CL E G H23173755OMIM:272460Spondylocarpotarsal synostosis syndrome.233
HP:0010609HP:0000384Preauricular skin tag1FN1 CL E G H23353778ORPHA:93315Spondylometaphyseal dysplasia, 'corner fracture' typeHP:0040283 - Occasional9
HP:0010609HP:0000384Preauricular skin tag1GNAI3 CL E G H27734387ORPHA:137888Auriculocondylar syndromeHP:0040282 - Frequent2
HP:0010609HP:0000384Preauricular skin tag1GNAI3 CL E G H27734387OMIM:602483Auriculocondylar syndrome 1.2
HP:0010609HP:0000384Preauricular skin tag1GPC3 CL E G H27194451OMIM:312870Simpson-golabi-behmel syndrome, type 173
HP:0010609HP:0000384Preauricular skin tag1GPC4 CL E G H22394452OMIM:312870Simpson-golabi-behmel syndrome, type 1
HP:0010609HP:0000384Preauricular skin tag1H4C3 CL E G H83644787OMIM:619758TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1
HP:0010609HP:0000384Preauricular skin tag1H4C5 CL E G H83674790OMIM:619950
HP:0010609HP:0000384Preauricular skin tag1H4C9 CL E G H82944793OMIM:619951
HP:0010609HP:0000384Preauricular skin tag1HNRNPU CL E G H31925048ORPHA:2387691q44 microdeletion syndromeHP:0040283 - Occasional39
HP:0010609HP:0000384Preauricular skin tag1IRX5 CL E G H1026514361OMIM:611174Hamamy syndromeHP:0040283 - Occasional4
HP:0010609HP:0000384Preauricular skin tag1KDM6A CL E G H740312637ORPHA:2322Kabuki syndromeHP:0040283 - Occasional53
HP:0010609HP:0000384Preauricular skin tag1KIF7 CL E G H37465430497OMIM:200990Acrocallosal syndrome167
HP:0010609HP:0000384Preauricular skin tag1KMT2D CL E G H80857133ORPHA:2322Kabuki syndromeHP:0040283 - Occasional660
HP:0010609HP:0000384Preauricular skin tag1LETM1 CL E G H39546556OMIM:194190Wolf-Hirschhorn syndrome2
HP:0010609HP:0000384Preauricular skin tag1LRP5 CL E G H40416697ORPHA:2788Osteoporosis-pseudoglioma syndromeHP:0040284 - Very rare125
HP:0010609HP:0000384Preauricular skin tag1MAFB CL E G H99356408ORPHA:233Duane retraction syndromeHP:0040283 - Occasional63
HP:0010609HP:0000384Preauricular skin tag1MED13L CL E G H2338922962ORPHA:369891Developmental delay-facial dysmorphism syndrome due to MED13L deficiencyHP:0040283 - Occasional74
HP:0010609HP:0000384Preauricular skin tag1MSL3 CL E G H109437370OMIM:301032BASILICATA-AKHTAR SYNDROME; MRXSBA
HP:0010609HP:0000384Preauricular skin tag1NAA10 CL E G H826018704ORPHA:568Microphthalmia, Lenz typeHP:0040283 - Occasional23
HP:0010609HP:0000384Preauricular skin tag1NSD2 CL E G H746812766OMIM:194190Wolf-Hirschhorn syndrome118
HP:0010609HP:0000384Preauricular skin tag1ODC1 CL E G H49538109ORPHA:544488Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndromeHP:0040283 - Occasional1
HP:0010609HP:0000384Preauricular skin tag1PIGS CL E G H9400514937OMIM:618143GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0010609HP:0000384Preauricular skin tag1PLCB4 CL E G H53329059ORPHA:137888Auriculocondylar syndromeHP:0040282 - Frequent82
HP:0010609HP:0000384Preauricular skin tag1POLR1B CL E G H8417220454ORPHA:861Treacher-Collins syndromeHP:0040283 - Occasional
HP:0010609HP:0000384Preauricular skin tag1POLR1C CL E G H953320194ORPHA:861Treacher-Collins syndromeHP:0040283 - Occasional38
HP:0010609HP:0000384Preauricular skin tag1POLR1D CL E G H5108220422ORPHA:861Treacher-Collins syndromeHP:0040283 - Occasional31
HP:0010609HP:0000384Preauricular skin tag1PRMT7 CL E G H5449625557ORPHA:464288Short stature-brachydactyly-obesity-global developmental delay syndromeHP:0040283 - Occasional6
HP:0010609HP:0000384Preauricular skin tag1SALL1 CL E G H629910524ORPHA:857Townes-Brocks syndromeHP:0040281 - Very frequent124
HP:0010609HP:0000384Preauricular skin tag1SALL1 CL E G H629910524OMIM:107480Townes-Brocks syndrome 1.124
HP:0010609HP:0000384Preauricular skin tag1SALL4 CL E G H5716715924ORPHA:233Duane retraction syndromeHP:0040283 - Occasional86
HP:0010609HP:0000384Preauricular skin tag1SEMA3E CL E G H972310727ORPHA:138CHARGE syndromeHP:0040283 - Occasional16
HP:0010609HP:0000384Preauricular skin tag1SEMA5A CL E G H903710736ORPHA:281Monosomy 5pHP:0040283 - Occasional6
HP:0010609HP:0000384Preauricular skin tag1SF3B2 CL E G H1099210769OMIM:164210Hemifacial microsomia.2
HP:0010609HP:0000384Preauricular skin tag1SF3B4 CL E G H1026210771OMIM:154400Acrofacial dysostosis 1, Nager type.49
HP:0010609HP:0000384Preauricular skin tag1SIX1 CL E G H649510887ORPHA:107BOR syndromeHP:0040282 - Frequent50
HP:0010609HP:0000384Preauricular skin tag1SIX1 CL E G H649510887ORPHA:52429Branchiootic syndromeHP:0040283 - Occasional50
HP:0010609HP:0000384Preauricular skin tag1SIX1 CL E G H649510887OMIM:608389Branchiootic syndrome 3.50
HP:0010609HP:0000384Preauricular skin tag1SIX1 CL E G H649510887OMIM:113650Branchiootorenal syndrome 1.50
HP:0010609HP:0000384Preauricular skin tag1SIX5 CL E G H14791210891ORPHA:107BOR syndromeHP:0040282 - Frequent10
HP:0010609HP:0000384Preauricular skin tag1SIX5 CL E G H14791210891OMIM:610896Branchiootorenal syndrome 2.10
HP:0010609HP:0000384Preauricular skin tag1SMARCA2 CL E G H659511098OMIM:601358Nicolaides-Baraitser syndrome146
HP:0010609HP:0000384Preauricular skin tag1SNRPN CL E G H663811164ORPHA:177907Prader-Willi syndrome due to translocationHP:0040283 - Occasional37
HP:0010609HP:0000384Preauricular skin tag1STAG2 CL E G H1073511355OMIM:301022Neurodevelopmental disorder, X-linked, with craniofacial abnormalities.1
HP:0010609HP:0000384Preauricular skin tag1SVBP CL E G H37496929204OMIM:618569NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM
HP:0010609HP:0000384Preauricular skin tag1TASP1 CL E G H5561715859OMIM:618950SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0010609HP:0000384Preauricular skin tag1TCOF1 CL E G H694911654OMIM:154500Treacher collins-franceschetti syndrome.140
HP:0010609HP:0000384Preauricular skin tag1TCOF1 CL E G H694911654ORPHA:861Treacher-Collins syndromeHP:0040283 - Occasional140
HP:0010609HP:0000384Preauricular skin tag1TMEM260 CL E G H5491620185OMIM:617478Structural heart defects and renal anomalies syndrome2
HP:0010609HP:0000384Preauricular skin tag1TXNL4A CL E G H1090730551OMIM:608572Burn-Mckeown syndrome.19
HP:0010609HP:0000384Preauricular skin tag1UBE3B CL E G H8991013478OMIM:244450Kaufman oculocerebrofacial syndrome13
HP:0010609HP:0000384Preauricular skin tag1UBE3B CL E G H8991013478ORPHA:2707Oculocerebrofacial syndrome, Kaufman typeHP:0040282 - Frequent13
HP:0010609HP:0000384Preauricular skin tag1VPS13B CL E G H1576802183ORPHA:193Cohen syndromeHP:0040283 - Occasional546
HP:0010609HP:0000384Preauricular skin tag1WASHC5 CL E G H989728984ORPHA:73C syndromeHP:0040283 - Occasional83
HP:0010609HP:0000384Preauricular skin tag1WBP11 CL E G H5172916461OMIM:619227VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS; VCTERL
HP:0010609HP:0000384Preauricular skin tag1WLS CL E G H7997130238OMIM:619648ZAKI SYNDROME; ZKS


Genes (84) :AKT1 ALX1 ALX3 ANKRD11 ANTXR1 ARID1B B3GLCT BCOR BRF1 CCDC22 CHD7 CHN1 COL2A1 CPLX1 CTBP1 CTNND2 DACT1 EDN1 EDNRA EFTUD2 EXT2 EYA1 FGF3 FGFR1 FGFR2 FGFRL1 FLCN FLNB FN1 GNAI3 GPC3 GPC4 H4C3 H4C5 H4C9 HNRNPU IRX5 KDM6A KIF7 KMT2D LETM1 LRP5 MAFB MED12 MED13L MSL3 NAA10 NSD2 NSMCE2 ODC1 PIGS PIK3CA PLCB4 POLR1B POLR1C POLR1D PRMT7 PTCH1 PTCH2 PTEN PUF60 RIPK4 SALL1 SALL4 SEMA3E SEMA5A SF3B2 SF3B4 SIX1 SIX5 SMARCA2 SNRPN STAG2 SUFU SVBP TASP1 TCOF1 TMEM260 TXNL4A UBE3B VPS13B WASHC5 WBP11 WLS

Diseases (72) :OMIM:615109 ORPHA:306542 OMIM:136760 ORPHA:391474 ORPHA:261250 ORPHA:2067 OMIM:135900 ORPHA:709 ORPHA:568 OMIM:616202 ORPHA:7 ORPHA:138 ORPHA:233 ORPHA:93315 OMIM:194190 ORPHA:281 ORPHA:857 ORPHA:137888 OMIM:616367 OMIM:610536 ORPHA:79113 OMIM:616682 ORPHA:107 ORPHA:52429 OMIM:113650 ORPHA:90024 OMIM:610706 OMIM:190440 OMIM:123790 ORPHA:122 OMIM:272460 OMIM:602483 OMIM:312870 OMIM:619758 OMIM:619950 OMIM:619951 ORPHA:238769 OMIM:611174 ORPHA:2322 OMIM:200990 ORPHA:2788 OMIM:305450 ORPHA:369891 OMIM:301032 OMIM:617253 ORPHA:544488 OMIM:618143 OMIM:615108 ORPHA:861 ORPHA:464288 OMIM:109400 OMIM:158350 ORPHA:508488 OMIM:263650 OMIM:107480 OMIM:164210 OMIM:154400 OMIM:608389 OMIM:610896 OMIM:601358 ORPHA:177907 OMIM:301022 OMIM:618569 OMIM:618950 OMIM:154500 OMIM:617478 OMIM:608572 OMIM:244450 ORPHA:2707 ORPHA:193 OMIM:619227 OMIM:619648
 

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