Human Phenotype Ontology 
Grandparent Node:
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Localized skin lesion (HP:0011355)help
Parent Node:
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Abnormal periauricular region morphology (HP:0000383)help
Parent Node:
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Skin tags (HP:0010609)help
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Preauricular skin tag (HP:0000384)help
Term ID: 384
Name: Preauricular skin tag
Synonym: Ear tag; Periauricular skin tag; Preauricular acrochordon; Preauricular fibroepithelial polyp; Preauricular skin tags; Preauricular tag; Preauricular tags; Skin tag in front of the ear; Skin tag on the posterior cheek
Definition: A rudimentary tag of skin often containing ear tissue including a core of cartilage and located just anterior to the auricle (outer part of the ear).
Comments:
Reference: HP:0000384
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000384HP:0000384Preauricular skin tag0ALX1 CL E G H80921494ORPHA:306542Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndromeHP:0040282 - Frequent5
HP:0000384HP:0000384Preauricular skin tag0ALX3 CL E G H257449OMIM:136760Frontonasal dysplasia 1.9
HP:0000384HP:0000384Preauricular skin tag0ALX3 CL E G H257449ORPHA:391474FrontorhinyHP:0040282 - Frequent9
HP:0000384HP:0000384Preauricular skin tag0ANKRD11 CL E G H2912321316ORPHA:26125016q24.3 microdeletion syndromeHP:0040283 - Occasional102
HP:0000384HP:0000384Preauricular skin tag0ARID1B CL E G H5749218040OMIM:135900Coffin-Siris syndrome 1.219
HP:0000384HP:0000384Preauricular skin tag0B3GLCT CL E G H14517320207ORPHA:709Peters plus syndromeHP:0040282 - Frequent36
HP:0000384HP:0000384Preauricular skin tag0BCOR CL E G H5488020893ORPHA:568Microphthalmia, Lenz typeHP:0040283 - Occasional101
HP:0000384HP:0000384Preauricular skin tag0BRF1 CL E G H297211551OMIM:616202Cerebellofaciodental syndrome7
HP:0000384HP:0000384Preauricular skin tag0CCDC22 CL E G H2895228909ORPHA:73C syndromeHP:0040283 - Occasional33
HP:0000384HP:0000384Preauricular skin tag0CHD7 CL E G H5563620626ORPHA:138CHARGE syndromeHP:0040283 - Occasional515
HP:0000384HP:0000384Preauricular skin tag0CHN1 CL E G H11231943ORPHA:233Duane retraction syndromeHP:0040283 - Occasional35
HP:0000384HP:0000384Preauricular skin tag0COL2A1 CL E G H12802200ORPHA:93315Spondylometaphyseal dysplasia, 'corner fracture' typeHP:0040283 - Occasional284
HP:0000384HP:0000384Preauricular skin tag0CPLX1 CL E G H108152309OMIM:194190Wolf-Hirschhorn syndrome1
HP:0000384HP:0000384Preauricular skin tag0CTBP1 CL E G H14872494OMIM:194190Wolf-Hirschhorn syndrome2
HP:0000384HP:0000384Preauricular skin tag0CTNND2 CL E G H15012516ORPHA:281Monosomy 5pHP:0040283 - Occasional15
HP:0000384HP:0000384Preauricular skin tag0DACT1 CL E G H5133917748ORPHA:857Townes-Brocks syndromeHP:0040281 - Very frequent2
HP:0000384HP:0000384Preauricular skin tag0EDN1 CL E G H19063176ORPHA:137888Auriculocondylar syndromeHP:0040282 - Frequent6
HP:0000384HP:0000384Preauricular skin tag0EDNRA CL E G H19093179OMIM:616367Mandibulofacial dysostosis with alopeciaHP:0040283 - Occasional3
HP:0000384HP:0000384Preauricular skin tag0EFTUD2 CL E G H934330858OMIM:610536Mandibulofacial dysostosis, Guion-Almeida type.48
HP:0000384HP:0000384Preauricular skin tag0EFTUD2 CL E G H934330858ORPHA:79113Mandibulofacial dysostosis-microcephaly syndromeHP:0040281 - Very frequent48
HP:0000384HP:0000384Preauricular skin tag0EXT2 CL E G H21323513OMIM:616682Seizures, scoliosis, and macrocephaly/microcephaly syndrome.102
HP:0000384HP:0000384Preauricular skin tag0EYA1 CL E G H21383519ORPHA:107BOR syndromeHP:0040282 - Frequent135
HP:0000384HP:0000384Preauricular skin tag0EYA1 CL E G H21383519ORPHA:52429Branchiootic syndromeHP:0040283 - Occasional135
HP:0000384HP:0000384Preauricular skin tag0EYA1 CL E G H21383519OMIM:113650Branchiootorenal syndrome 1.135
HP:0000384HP:0000384Preauricular skin tag0FGFR1 CL E G H22603688OMIM:190440Trigonocephaly 1.172
HP:0000384HP:0000384Preauricular skin tag0FGFRL1 CL E G H538343693OMIM:194190Wolf-Hirschhorn syndrome
HP:0000384HP:0000384Preauricular skin tag0FLNB CL E G H23173755OMIM:272460Spondylocarpotarsal synostosis syndrome.233
HP:0000384HP:0000384Preauricular skin tag0FN1 CL E G H23353778ORPHA:93315Spondylometaphyseal dysplasia, 'corner fracture' typeHP:0040283 - Occasional9
HP:0000384HP:0000384Preauricular skin tag0GNAI3 CL E G H27734387ORPHA:137888Auriculocondylar syndromeHP:0040282 - Frequent2
HP:0000384HP:0000384Preauricular skin tag0GNAI3 CL E G H27734387OMIM:602483Auriculocondylar syndrome 1.2
HP:0000384HP:0000384Preauricular skin tag0GPC3 CL E G H27194451OMIM:312870Simpson-golabi-behmel syndrome, type 173
HP:0000384HP:0000384Preauricular skin tag0GPC4 CL E G H22394452OMIM:312870Simpson-golabi-behmel syndrome, type 1
HP:0000384HP:0000384Preauricular skin tag0H4C3 CL E G H83644787OMIM:619758TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1
HP:0000384HP:0000384Preauricular skin tag0H4C5 CL E G H83674790OMIM:619950
HP:0000384HP:0000384Preauricular skin tag0H4C9 CL E G H82944793OMIM:619951
HP:0000384HP:0000384Preauricular skin tag0HNRNPU CL E G H31925048ORPHA:2387691q44 microdeletion syndromeHP:0040283 - Occasional39
HP:0000384HP:0000384Preauricular skin tag0IRX5 CL E G H1026514361OMIM:611174Hamamy syndromeHP:0040283 - Occasional4
HP:0000384HP:0000384Preauricular skin tag0KDM6A CL E G H740312637ORPHA:2322Kabuki syndromeHP:0040283 - Occasional53
HP:0000384HP:0000384Preauricular skin tag0KIF7 CL E G H37465430497OMIM:200990Acrocallosal syndrome167
HP:0000384HP:0000384Preauricular skin tag0KMT2D CL E G H80857133ORPHA:2322Kabuki syndromeHP:0040283 - Occasional660
HP:0000384HP:0000384Preauricular skin tag0LETM1 CL E G H39546556OMIM:194190Wolf-Hirschhorn syndrome2
HP:0000384HP:0000384Preauricular skin tag0LRP5 CL E G H40416697ORPHA:2788Osteoporosis-pseudoglioma syndromeHP:0040284 - Very rare125
HP:0000384HP:0000384Preauricular skin tag0MAFB CL E G H99356408ORPHA:233Duane retraction syndromeHP:0040283 - Occasional63
HP:0000384HP:0000384Preauricular skin tag0MED13L CL E G H2338922962ORPHA:369891Developmental delay-facial dysmorphism syndrome due to MED13L deficiencyHP:0040283 - Occasional74
HP:0000384HP:0000384Preauricular skin tag0MSL3 CL E G H109437370OMIM:301032BASILICATA-AKHTAR SYNDROME; MRXSBA
HP:0000384HP:0000384Preauricular skin tag0NAA10 CL E G H826018704ORPHA:568Microphthalmia, Lenz typeHP:0040283 - Occasional23
HP:0000384HP:0000384Preauricular skin tag0NSD2 CL E G H746812766OMIM:194190Wolf-Hirschhorn syndrome118
HP:0000384HP:0000384Preauricular skin tag0ODC1 CL E G H49538109ORPHA:544488Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndromeHP:0040283 - Occasional1
HP:0000384HP:0000384Preauricular skin tag0PIGS CL E G H9400514937OMIM:618143GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0000384HP:0000384Preauricular skin tag0PLCB4 CL E G H53329059ORPHA:137888Auriculocondylar syndromeHP:0040282 - Frequent82
HP:0000384HP:0000384Preauricular skin tag0POLR1B CL E G H8417220454ORPHA:861Treacher-Collins syndromeHP:0040283 - Occasional
HP:0000384HP:0000384Preauricular skin tag0POLR1C CL E G H953320194ORPHA:861Treacher-Collins syndromeHP:0040283 - Occasional38
HP:0000384HP:0000384Preauricular skin tag0POLR1D CL E G H5108220422ORPHA:861Treacher-Collins syndromeHP:0040283 - Occasional31
HP:0000384HP:0000384Preauricular skin tag0PRMT7 CL E G H5449625557ORPHA:464288Short stature-brachydactyly-obesity-global developmental delay syndromeHP:0040283 - Occasional6
HP:0000384HP:0000384Preauricular skin tag0SALL1 CL E G H629910524ORPHA:857Townes-Brocks syndromeHP:0040281 - Very frequent124
HP:0000384HP:0000384Preauricular skin tag0SALL1 CL E G H629910524OMIM:107480Townes-Brocks syndrome 1.124
HP:0000384HP:0000384Preauricular skin tag0SALL4 CL E G H5716715924ORPHA:233Duane retraction syndromeHP:0040283 - Occasional86
HP:0000384HP:0000384Preauricular skin tag0SEMA3E CL E G H972310727ORPHA:138CHARGE syndromeHP:0040283 - Occasional16
HP:0000384HP:0000384Preauricular skin tag0SEMA5A CL E G H903710736ORPHA:281Monosomy 5pHP:0040283 - Occasional6
HP:0000384HP:0000384Preauricular skin tag0SF3B2 CL E G H1099210769OMIM:164210Hemifacial microsomia.2
HP:0000384HP:0000384Preauricular skin tag0SF3B4 CL E G H1026210771OMIM:154400Acrofacial dysostosis 1, Nager type.49
HP:0000384HP:0000384Preauricular skin tag0SIX1 CL E G H649510887ORPHA:107BOR syndromeHP:0040282 - Frequent50
HP:0000384HP:0000384Preauricular skin tag0SIX1 CL E G H649510887ORPHA:52429Branchiootic syndromeHP:0040283 - Occasional50
HP:0000384HP:0000384Preauricular skin tag0SIX1 CL E G H649510887OMIM:608389Branchiootic syndrome 3.50
HP:0000384HP:0000384Preauricular skin tag0SIX1 CL E G H649510887OMIM:113650Branchiootorenal syndrome 1.50
HP:0000384HP:0000384Preauricular skin tag0SIX5 CL E G H14791210891ORPHA:107BOR syndromeHP:0040282 - Frequent10
HP:0000384HP:0000384Preauricular skin tag0SIX5 CL E G H14791210891OMIM:610896Branchiootorenal syndrome 2.10
HP:0000384HP:0000384Preauricular skin tag0SMARCA2 CL E G H659511098OMIM:601358Nicolaides-Baraitser syndrome146
HP:0000384HP:0000384Preauricular skin tag0SNRPN CL E G H663811164ORPHA:177907Prader-Willi syndrome due to translocationHP:0040283 - Occasional37
HP:0000384HP:0000384Preauricular skin tag0STAG2 CL E G H1073511355OMIM:301022Neurodevelopmental disorder, X-linked, with craniofacial abnormalities.1
HP:0000384HP:0000384Preauricular skin tag0SVBP CL E G H37496929204OMIM:618569NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM
HP:0000384HP:0000384Preauricular skin tag0TASP1 CL E G H5561715859OMIM:618950SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0000384HP:0000384Preauricular skin tag0TCOF1 CL E G H694911654OMIM:154500Treacher collins-franceschetti syndrome.140
HP:0000384HP:0000384Preauricular skin tag0TCOF1 CL E G H694911654ORPHA:861Treacher-Collins syndromeHP:0040283 - Occasional140
HP:0000384HP:0000384Preauricular skin tag0TMEM260 CL E G H5491620185OMIM:617478Structural heart defects and renal anomalies syndrome2
HP:0000384HP:0000384Preauricular skin tag0TXNL4A CL E G H1090730551OMIM:608572Burn-Mckeown syndrome.19
HP:0000384HP:0000384Preauricular skin tag0UBE3B CL E G H8991013478OMIM:244450Kaufman oculocerebrofacial syndrome13
HP:0000384HP:0000384Preauricular skin tag0UBE3B CL E G H8991013478ORPHA:2707Oculocerebrofacial syndrome, Kaufman typeHP:0040282 - Frequent13
HP:0000384HP:0000384Preauricular skin tag0VPS13B CL E G H1576802183ORPHA:193Cohen syndromeHP:0040283 - Occasional546
HP:0000384HP:0000384Preauricular skin tag0WASHC5 CL E G H989728984ORPHA:73C syndromeHP:0040283 - Occasional83
HP:0000384HP:0000384Preauricular skin tag0WBP11 CL E G H5172916461OMIM:619227VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS; VCTERL
HP:0000384HP:0000384Preauricular skin tag0WLS CL E G H7997130238OMIM:619648ZAKI SYNDROME; ZKS


Genes (70) :ALX1 ALX3 ANKRD11 ARID1B B3GLCT BCOR BRF1 CCDC22 CHD7 CHN1 COL2A1 CPLX1 CTBP1 CTNND2 DACT1 EDN1 EDNRA EFTUD2 EXT2 EYA1 FGFR1 FGFRL1 FLNB FN1 GNAI3 GPC3 GPC4 H4C3 H4C5 H4C9 HNRNPU IRX5 KDM6A KIF7 KMT2D LETM1 LRP5 MAFB MED13L MSL3 NAA10 NSD2 ODC1 PIGS PLCB4 POLR1B POLR1C POLR1D PRMT7 SALL1 SALL4 SEMA3E SEMA5A SF3B2 SF3B4 SIX1 SIX5 SMARCA2 SNRPN STAG2 SVBP TASP1 TCOF1 TMEM260 TXNL4A UBE3B VPS13B WASHC5 WBP11 WLS

Diseases (59) :ORPHA:306542 OMIM:136760 ORPHA:391474 ORPHA:261250 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 OMIM:190440 OMIM:272460 OMIM:602483 OMIM:312870 OMIM:619758 OMIM:619950 OMIM:619951 ORPHA:238769 OMIM:611174 ORPHA:2322 OMIM:200990 ORPHA:2788 ORPHA:369891 OMIM:301032 ORPHA:544488 OMIM:618143 ORPHA:861 ORPHA:464288 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.