Human Phenotype Ontology 
Grandparent Node:
expand
Abnormality of the outer ear (HP:0000356)help
Parent Node:
expand
Abnormality of the pinna (HP:0000377)help
..Starting node
..expand
Protruding ear (HP:0000411)help
Term ID: 411
Name: Protruding ear
Synonym: Prominent ear; Prominent ears; Protruding ears
Definition: Angle formed by the plane of the ear and the mastoid bone greater than the 97th centile for age (objective); or, outer edge of the helix more than 2 cm from the mastoid at the point of maximum distance (objective).
Comments:
Reference: HP:0000411
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormal number of tubercles (HP:0040112) help
..expandAbnormality of earlobe (HP:0000363) help
..expandAbnormality of the antihelix (HP:0009738) help
..expandAbnormality of the antitragus (HP:0009896) help
..expandAbnormality of the helix (HP:0011039) help
..expandAbnormality of the tragus (HP:0009912) help
..expandAsymmetry of the ears (HP:0010722) help
..expandAuricular pit (HP:0030025) help
..expandAuricular tag (HP:0030021) help
..expandCalcification of the auricular cartilage (HP:0005103) help
..expandChondritis of pinna (HP:0200047) help
..expandCrumpled ear (HP:0009901) help
..expandCryptotia (HP:0011252) help
..expandCupped ear (HP:0000378) help
..expandCystic lesions of the pinnae (HP:0010723) help
..expandHypoplasia of the ear cartilage (HP:0100720) help
..expandLong ear (HP:0400004) help
..expandLop ear (HP:0000394) help
..expandMacrotia (HP:0000400) help
..expandMicrotia (HP:0008551) help
..expandMozart ear (HP:0030677) help
..expandQuelprud nodule (HP:0030023) help
..expandQuestion mark ear (HP:0030022) help
..expandRound ear (HP:0100830) help
..expandSatyr ear (HP:0030676) help
..expandShort ear (HP:0400005) help
..expandThickened ears (HP:0009894) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0000411HP:0000411Protruding ear0ALDH18A1 CL E G H5832616603Cutis laxa, autosomal dominant 3616603C4225268OMIM13929722138250
HP:0000411HP:0000411Protruding ear0ALDH18A1 CL E G H5832616603Cutis laxa, autosomal dominant 3616603C4225268OMIM13469722138250
HP:0000411HP:0000411Protruding ear0ANKRD11 CL E G H2912326125016q24.3 microdeletion syndromeCN202174ORPHA1118421316611192
HP:0000411HP:0000411Protruding ear0ANKRD11 CL E G H2912326125016q24.3 microdeletion syndromeCN202174ORPHA1110121316611192
HP:0000411HP:0000411Protruding ear0ANTXR1 CL E G H84168230740Odontotrichomelic syndrome230740C0406723OMIM18421014606410
HP:0000411HP:0000411Protruding ear0ANTXR1 CL E G H84168230740Odontotrichomelic syndrome230740C0406723OMIM18321014606410
HP:0000411HP:0000411Protruding ear0AP1S2 CL E G H890585329ORPHA1219560300629
HP:0000411HP:0000411Protruding ear0AP1S2 CL E G H890585329ORPHA1216560300629
HP:0000411HP:0000411Protruding ear0ARX CL E G H1703022508ORPHA162418060300382
HP:0000411HP:0000411Protruding ear0ARX CL E G H1703022508ORPHA156518060300382
HP:0000411HP:0000411Protruding ear0ARX CL E G H170302300004Proud Levine Carpenter syndrome300004C0796124OMIM162418060300382
HP:0000411HP:0000411Protruding ear0ARX CL E G H170302300004Proud Levine Carpenter syndrome300004C0796124OMIM156518060300382
HP:0000411HP:0000411Protruding ear0ATP6V1A CL E G H523617403CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID617403C4479409OMIM193851607027
HP:0000411HP:0000411Protruding ear0ATP6V1A CL E G H523617403CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID617403C4479409OMIM179851607027
HP:0000411HP:0000411Protruding ear0B3GLCT CL E G H145173261540Peters plus syndrome261540C0796012OMIM124820207610308
HP:0000411HP:0000411Protruding ear0B3GLCT CL E G H145173261540Peters plus syndrome261540C0796012OMIM122620207610308
HP:0000411HP:0000411Protruding ear0BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA1192961605681
HP:0000411HP:0000411Protruding ear0BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA1191961605681
HP:0000411HP:0000411Protruding ear0BLM CL E G H641210900Bloom syndrome210900C0005859OMIM124251058604610
HP:0000411HP:0000411Protruding ear0BLM CL E G H641210900Bloom syndrome210900C0005859OMIM120481058604610
HP:0000411HP:0000411Protruding ear0CAMTA1 CL E G H23261614756Cerebellar ataxia, nonprogressive, with mental retardation614756C3553661OMIM129818806611501
HP:0000411HP:0000411Protruding ear0CAMTA1 CL E G H23261614756Cerebellar ataxia, nonprogressive, with mental retardation614756C3553661OMIM128418806611501
HP:0000411HP:0000411Protruding ear0CCDC8 CL E G H839872616ORPHA19525367614145
HP:0000411HP:0000411Protruding ear0CCDC8 CL E G H839872616ORPHA14725367614145
HP:0000411HP:0000411Protruding ear0CCDC8 CL E G H83987614205Three M syndrome 3614205C3280146OMIM14725367614145
HP:0000411HP:0000411Protruding ear0CCDC8 CL E G H83987614205Three M syndrome 3614205C3280146OMIM19525367614145
HP:0000411HP:0000411Protruding ear0CHST14 CL E G H113189601776Ehlers-Danlos syndrome, musculocontractural type601776C1866294OMIM116424464608429
HP:0000411HP:0000411Protruding ear0CHST14 CL E G H113189601776Ehlers-Danlos syndrome, musculocontractural type601776C1866294OMIM113524464608429
HP:0000411HP:0000411Protruding ear0CLCF1 CL E G H23529610313Cold-induced sweating syndrome 2610313C1853198OMIM12817412607672
HP:0000411HP:0000411Protruding ear0CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA11772586603432
HP:0000411HP:0000411Protruding ear0CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA11762586603432
HP:0000411HP:0000411Protruding ear0COL3A1 CL E G H1281286Imaizumi Kuroki syndromeORPHA120832201120180
HP:0000411HP:0000411Protruding ear0COL3A1 CL E G H1281286Imaizumi Kuroki syndromeORPHA119352201120180
HP:0000411HP:0000411Protruding ear0COL5A1 CL E G H1289286Imaizumi Kuroki syndromeORPHA122462209120215
HP:0000411HP:0000411Protruding ear0COL5A1 CL E G H1289286Imaizumi Kuroki syndromeORPHA120772209120215
HP:0000411HP:0000411Protruding ear0COL6A1 CL E G H1291254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM113422211120220
HP:0000411HP:0000411Protruding ear0COL6A1 CL E G H1291254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM112192211120220
HP:0000411HP:0000411Protruding ear0COL6A2 CL E G H1292254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM115122212120240
HP:0000411HP:0000411Protruding ear0COL6A2 CL E G H1292254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM113702212120240
HP:0000411HP:0000411Protruding ear0COL6A3 CL E G H1293254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM122332213120250
HP:0000411HP:0000411Protruding ear0COL6A3 CL E G H1293254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM119712213120250
HP:0000411HP:0000411Protruding ear0CUL7 CL E G H98202616ORPHA142321024609577
HP:0000411HP:0000411Protruding ear0CUL7 CL E G H98202616ORPHA132421024609577
HP:0000411HP:0000411Protruding ear0DCAF17 CL E G H800673464ORPHA125125784612515
HP:0000411HP:0000411Protruding ear0DCAF17 CL E G H800673464ORPHA122925784612515
HP:0000411HP:0000411Protruding ear0DLX4 CL E G H1748616788Orofacial cleft 15616788C4225209OMIM1232917601911
HP:0000411HP:0000411Protruding ear0DSE CL E G H29940615539Ehlers-Danlos syndrome, musculocontractural type 2615539C3809845OMIM121821144605942
HP:0000411HP:0000411Protruding ear0DSE CL E G H29940615539Ehlers-Danlos syndrome, musculocontractural type 2615539C3809845OMIM117321144605942
HP:0000411HP:0000411Protruding ear0EDNRA CL E G H1909616367Mandibulofacial dysostosis with alopecia616367C4225349OMIM1603179131243
HP:0000411HP:0000411Protruding ear0EDNRA CL E G H1909616367Mandibulofacial dysostosis with alopecia616367C4225349OMIM1683179131243
HP:0000411HP:0000411Protruding ear0EIF4A3 CL E G H9775268305Richieri Costa Pereira syndrome268305C1849348OMIM13818683608546
HP:0000411HP:0000411Protruding ear0EIF4A3 CL E G H9775268305Richieri Costa Pereira syndrome268305C1849348OMIM13618683608546
HP:0000411HP:0000411Protruding ear0ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA17043327130160
HP:0000411HP:0000411Protruding ear0ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA16573327130160
HP:0000411HP:0000411Protruding ear0EXT1 CL E G H2131502Acromegaloid hypertrichosis syndromeORPHA16483512608177
HP:0000411HP:0000411Protruding ear0EXT1 CL E G H2131502Acromegaloid hypertrichosis syndromeORPHA15243512608177
HP:0000411HP:0000411Protruding ear0EYA1 CL E G H21382792Hyperbilirubinemia type 1ORPHA14043519601653
HP:0000411HP:0000411Protruding ear0EYA1 CL E G H21382792Hyperbilirubinemia type 1ORPHA13673519601653
HP:0000411HP:0000411Protruding ear0FBXL4 CL E G H26235615471Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)615471C3809592OMIM145813601605654
HP:0000411HP:0000411Protruding ear0FBXL4 CL E G H26235615471Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)615471C3809592OMIM147413601605654
HP:0000411HP:0000411Protruding ear0FGFR1 CL E G H22602645ORPHA15973688136350
HP:0000411HP:0000411Protruding ear0FGFR1 CL E G H22602645ORPHA15303688136350
HP:0000411HP:0000411Protruding ear0FLNA CL E G H2316300321FG syndrome 2300321C1845902OMIM121303754300017
HP:0000411HP:0000411Protruding ear0FLNA CL E G H2316300321FG syndrome 2300321C1845902OMIM118933754300017
HP:0000411HP:0000411Protruding ear0FMR1 CL E G H2332908ORPHA13223775309550
HP:0000411HP:0000411Protruding ear0FMR1 CL E G H2332908ORPHA13173775309550
HP:0000411HP:0000411Protruding ear0FOXG1 CL E G H2290261144ORPHA15343811164874
HP:0000411HP:0000411Protruding ear0FOXG1 CL E G H2290261144ORPHA14913811164874
HP:0000411HP:0000411Protruding ear0FRMD4A CL E G H55691616819Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia616819C4225193OMIM15825491616305
HP:0000411HP:0000411Protruding ear0FRMD4A CL E G H55691616819Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia616819C4225193OMIM15725491616305
HP:0000411HP:0000411Protruding ear0GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA11604659601679
HP:0000411HP:0000411Protruding ear0GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA11594659601679
HP:0000411HP:0000411Protruding ear0GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA12134661604318
HP:0000411HP:0000411Protruding ear0GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA12114661604318
HP:0000411HP:0000411Protruding ear0GTPBP2 CL E G H54676617988JABERI-ELAHI SYNDROME617988CN244943OMIM1504670607434
HP:0000411HP:0000411Protruding ear0GTPBP2 CL E G H54676617988JABERI-ELAHI SYNDROME617988CN244943OMIM1344670607434
HP:0000411HP:0000411Protruding ear0KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16818249613420
HP:0000411HP:0000411Protruding ear0KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM16418249613420
HP:0000411HP:0000411Protruding ear0KDM6A CL E G H74032322ORPHA156212637300128
HP:0000411HP:0000411Protruding ear0KDM6A CL E G H74032322ORPHA150212637300128
HP:0000411HP:0000411Protruding ear0KIF11 CL E G H3832152950Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation152950C1835265OMIM14986388148760
HP:0000411HP:0000411Protruding ear0KIF11 CL E G H3832152950Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation152950C1835265OMIM14056388148760
HP:0000411HP:0000411Protruding ear0KMT2D CL E G H80852322ORPHA123717133602113
HP:0000411HP:0000411Protruding ear0KMT2D CL E G H80852322ORPHA118287133602113
HP:0000411HP:0000411Protruding ear0LGI4 CL E G H163175617468Arthrogryposis multiplex congenita, neurogenic, with myelin defect617468C4479539OMIM17918712608303
HP:0000411HP:0000411Protruding ear0LGI4 CL E G H163175617468Arthrogryposis multiplex congenita, neurogenic, with myelin defect617468C4479539OMIM17418712608303
HP:0000411HP:0000411Protruding ear0LIG4 CL E G H3981235ORPHA14676601601837
HP:0000411HP:0000411Protruding ear0LIG4 CL E G H3981235ORPHA13886601601837
HP:0000411HP:0000411Protruding ear0LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA11976613601329
HP:0000411HP:0000411Protruding ear0LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA11966613601329
HP:0000411HP:0000411Protruding ear0MBD5 CL E G H55777156200Mental retardation, autosomal dominant 1156200C1969562OMIM199320444611472
HP:0000411HP:0000411Protruding ear0MBD5 CL E G H55777156200Mental retardation, autosomal dominant 1156200C1969562OMIM187820444611472
HP:0000411HP:0000411Protruding ear0MBTPS2 CL E G H5136085284ORPHA124215455300294
HP:0000411HP:0000411Protruding ear0MBTPS2 CL E G H5136085284ORPHA123115455300294
HP:0000411HP:0000411Protruding ear0MYH3 CL E G H46211147ORPHA15337573160720
HP:0000411HP:0000411Protruding ear0MYH3 CL E G H46211147ORPHA14447573160720
HP:0000411HP:0000411Protruding ear0NALCN CL E G H2592321147ORPHA159019082611549
HP:0000411HP:0000411Protruding ear0NALCN CL E G H2592321147ORPHA157319082611549
HP:0000411HP:0000411Protruding ear0NECTIN1 CL E G H58183253Limb dystoniaORPHA12079706600644
HP:0000411HP:0000411Protruding ear0NECTIN1 CL E G H58183253Limb dystoniaORPHA11999706600644
HP:0000411HP:0000411Protruding ear0NHS CL E G H4810627ORPHA14217820300457
HP:0000411HP:0000411Protruding ear0NHS CL E G H4810627ORPHA14057820300457
HP:0000411HP:0000411Protruding ear0NSUN2 CL E G H54888235ORPHA140125994610916
HP:0000411HP:0000411Protruding ear0NSUN2 CL E G H54888235ORPHA138625994610916
HP:0000411HP:0000411Protruding ear0OBSL1 CL E G H233632616ORPHA162629092610991
HP:0000411HP:0000411Protruding ear0OBSL1 CL E G H233632616ORPHA146129092610991
HP:0000411HP:0000411Protruding ear0OCRL CL E G H4952534Acute myeloblastic leukemia without maturationORPHA14758108300535
HP:0000411HP:0000411Protruding ear0OCRL CL E G H4952534Acute myeloblastic leukemia without maturationORPHA14258108300535
HP:0000411HP:0000411Protruding ear0OTUD6B CL E G H51633617452Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies617452C4479520OMIM16124281612021
HP:0000411HP:0000411Protruding ear0OTUD6B CL E G H51633617452Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies617452C4479520OMIM15624281612021
HP:0000411HP:0000411Protruding ear0PAX1 CL E G H50752792Hyperbilirubinemia type 1ORPHA11698615167411
HP:0000411HP:0000411Protruding ear0PAX1 CL E G H50752792Hyperbilirubinemia type 1ORPHA1748615167411
HP:0000411HP:0000411Protruding ear0PIEZO2 CL E G H63895108145Oculomelic amyoplasia108145C1862472OMIM170926270613629
HP:0000411HP:0000411Protruding ear0PIEZO2 CL E G H63895108145Oculomelic amyoplasia108145C1862472OMIM167226270613629
HP:0000411HP:0000411Protruding ear0PLK4 CL E G H107332518ORPHA133911397605031
HP:0000411HP:0000411Protruding ear0PLK4 CL E G H107332518ORPHA121911397605031
HP:0000411HP:0000411Protruding ear0PQBP1 CL E G H1008493947ORPHA12659330300463
HP:0000411HP:0000411Protruding ear0PQBP1 CL E G H1008493947ORPHA12609330300463
HP:0000411HP:0000411Protruding ear0PQBP1 CL E G H10084309500Renpenning syndrome 1309500C0796135OMIM12659330300463
HP:0000411HP:0000411Protruding ear0PQBP1 CL E G H10084309500Renpenning syndrome 1309500C0796135OMIM12609330300463
HP:0000411HP:0000411Protruding ear0PRUNE1 CL E G H58497617481Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies617481C4479566OMIM13513420617413
HP:0000411HP:0000411Protruding ear0PRUNE1 CL E G H58497617481Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies617481C4479566OMIM13413420617413
HP:0000411HP:0000411Protruding ear0PTPN11 CL E G H5781151100LEOPARD syndrome 1151100CN074218OMIM16299644176876
HP:0000411HP:0000411Protruding ear0PTPN11 CL E G H5781151100LEOPARD syndrome 1151100CN074218OMIM15659644176876
HP:0000411HP:0000411Protruding ear0PYCR1 CL E G H5831612940Autosomal recessive cutis laxa type 2B612940C2751987OMIM11939721179035
HP:0000411HP:0000411Protruding ear0PYCR1 CL E G H5831612940Autosomal recessive cutis laxa type 2B612940C2751987OMIM11749721179035
HP:0000411HP:0000411Protruding ear0RAP1A CL E G H59062322ORPHA1369855179520
HP:0000411HP:0000411Protruding ear0RAP1B CL E G H59082322ORPHA1339857179530
HP:0000411HP:0000411Protruding ear0RB1 CL E G H59251587Craniosynostosis arthrogryposis cleft palateORPHA118839884614041
HP:0000411HP:0000411Protruding ear0RB1 CL E G H59251587Craniosynostosis arthrogryposis cleft palateORPHA116439884614041
HP:0000411HP:0000411Protruding ear0RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA11759970600404
HP:0000411HP:0000411Protruding ear0RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA11749970600404
HP:0000411HP:0000411Protruding ear0RPL10 CL E G H6134435938ORPHA125910298312173
HP:0000411HP:0000411Protruding ear0RPL10 CL E G H6134435938ORPHA125410298312173
HP:0000411HP:0000411Protruding ear0RPL10 CL E G H6134300998MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35300998C4478383OMIM125910298312173
HP:0000411HP:0000411Protruding ear0RPL10 CL E G H6134300998MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35300998C4478383OMIM125410298312173
HP:0000411HP:0000411Protruding ear0RPS6KA3 CL E G H6197303600Coffin-Lowry syndrome303600C0265252OMIM140410432300075
HP:0000411HP:0000411Protruding ear0RPS6KA3 CL E G H6197303600Coffin-Lowry syndrome303600C0265252OMIM138310432300075
HP:0000411HP:0000411Protruding ear0RPS6KA3 CL E G H6197192Karandikar Maria Kamble syndromeORPHA140410432300075
HP:0000411HP:0000411Protruding ear0RPS6KA3 CL E G H6197192Karandikar Maria Kamble syndromeORPHA138310432300075
HP:0000411HP:0000411Protruding ear0SCARF2 CL E G H91179600920Marden Walker like syndrome600920C1833136OMIM143119869613619
HP:0000411HP:0000411Protruding ear0SCARF2 CL E G H91179600920Marden Walker like syndrome600920C1833136OMIM141219869613619
HP:0000411HP:0000411Protruding ear0SH3PXD2B CL E G H285590137834ORPHA138529242613293
HP:0000411HP:0000411Protruding ear0SH3PXD2B CL E G H285590137834ORPHA134129242613293
HP:0000411HP:0000411Protruding ear0SH3PXD2B CL E G H285590249420Frank Ter Haar syndrome249420C1855305OMIM138529242613293
HP:0000411HP:0000411Protruding ear0SH3PXD2B CL E G H285590249420Frank Ter Haar syndrome249420C1855305OMIM134129242613293
HP:0000411HP:0000411Protruding ear0SHANK3 CL E G H8535860623222q13.3 deletion syndrome606232C1853490OMIM163814294606230
HP:0000411HP:0000411Protruding ear0SHANK3 CL E G H8535860623222q13.3 deletion syndrome606232C1853490OMIM161714294606230
HP:0000411HP:0000411Protruding ear0TAF1 CL E G H6872300966Mental retardation, X-linked, syndromic 33300966C4225418OMIM132111535313650
HP:0000411HP:0000411Protruding ear0TAF1 CL E G H6872300966Mental retardation, X-linked, syndromic 33300966C4225418OMIM130211535313650
HP:0000411HP:0000411Protruding ear0TBL2 CL E G H26608904Blepharophimosis nasal groove growth retardationORPHA116211586605842
HP:0000411HP:0000411Protruding ear0TBL2 CL E G H26608904Blepharophimosis nasal groove growth retardationORPHA116111586605842
HP:0000411HP:0000411Protruding ear0TBX22 CL E G H50945302905Abruzzo Erickson syndrome302905C1844862OMIM121211600300307
HP:0000411HP:0000411Protruding ear0TBX22 CL E G H50945302905Abruzzo Erickson syndrome302905C1844862OMIM120911600300307
HP:0000411HP:0000411Protruding ear0TFAP2B CL E G H7021169100Char syndrome169100C1868570OMIM18511743601601
HP:0000411HP:0000411Protruding ear0TFAP2B CL E G H7021169100Char syndrome169100C1868570OMIM17711743601601
HP:0000411HP:0000411Protruding ear0TNNI2 CL E G H71361147ORPHA110711946191043
HP:0000411HP:0000411Protruding ear0TNNI2 CL E G H71361147ORPHA110411946191043
HP:0000411HP:0000411Protruding ear0TNNT3 CL E G H71401147ORPHA116711950600692
HP:0000411HP:0000411Protruding ear0TNNT3 CL E G H71401147ORPHA114111950600692
HP:0000411HP:0000411Protruding ear0TPM2 CL E G H71691147ORPHA124212011190990
HP:0000411HP:0000411Protruding ear0TPM2 CL E G H71691147ORPHA123412011190990
HP:0000411HP:0000411Protruding ear0TRPS1 CL E G H722777258ORPHA133612340604386
HP:0000411HP:0000411Protruding ear0TRPS1 CL E G H722777258ORPHA127012340604386
HP:0000411HP:0000411Protruding ear0TRPS1 CL E G H7227502Acromegaloid hypertrichosis syndromeORPHA133612340604386
HP:0000411HP:0000411Protruding ear0TRPS1 CL E G H7227502Acromegaloid hypertrichosis syndromeORPHA127012340604386
HP:0000411HP:0000411Protruding ear0TRPS1 CL E G H7227190350Trichorhinophalangeal dysplasia type I190350C0432233OMIM133612340604386
HP:0000411HP:0000411Protruding ear0TRPS1 CL E G H7227190350Trichorhinophalangeal dysplasia type I190350C0432233OMIM127012340604386
HP:0000411HP:0000411Protruding ear0TRPS1 CL E G H7227190351Trichorhinophalangeal syndrome type 3190351C1860823OMIM133612340604386
HP:0000411HP:0000411Protruding ear0TRPS1 CL E G H7227190351Trichorhinophalangeal syndrome type 3190351C1860823OMIM127012340604386
HP:0000411HP:0000411Protruding ear0TUBGCP4 CL E G H272292518ORPHA129116691609610
HP:0000411HP:0000411Protruding ear0TUBGCP4 CL E G H272292518ORPHA122316691609610
HP:0000411HP:0000411Protruding ear0TUBGCP6 CL E G H853782518ORPHA1126618127610053
HP:0000411HP:0000411Protruding ear0TUBGCP6 CL E G H853782518ORPHA191418127610053
HP:0000411HP:0000411Protruding ear0TXNL4A CL E G H10907608572Burn-McKeown syndrome608572C1837822OMIM119230551611595
HP:0000411HP:0000411Protruding ear0TXNL4A CL E G H10907608572Burn-McKeown syndrome608572C1837822OMIM119130551611595
HP:0000411HP:0000411Protruding ear0ZDHHC9 CL E G H51114300799Mental retardation, X-linked, syndromic, Raymond type300799C3275406OMIM130518475300646
HP:0000411HP:0000411Protruding ear0ZDHHC9 CL E G H51114300799Mental retardation, X-linked, syndromic, Raymond type300799C3275406OMIM129518475300646
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000411HP:0000411Protruding ear0APC CL E G H3243258Lindstrom syndromeORPHA09963583611731
HP:0000411HP:0000411Protruding ear0APC CL E G H3243258Lindstrom syndromeORPHA09051583611731
HP:0000411HP:0000411Protruding ear0B3GALNT2 CL E G H148789899ORPHA041128596610194
HP:0000411HP:0000411Protruding ear0B3GALNT2 CL E G H148789899ORPHA034328596610194
HP:0000411HP:0000411Protruding ear0B4GAT1 CL E G H11041899ORPHA015115685605517
HP:0000411HP:0000411Protruding ear0B4GAT1 CL E G H11041899ORPHA012215685605517
HP:0000411HP:0000411Protruding ear0BIN1 CL E G H274169186ORPHA04871052601248
HP:0000411HP:0000411Protruding ear0BIN1 CL E G H274169186ORPHA04311052601248
HP:0000411HP:0000411Protruding ear0BLM CL E G H641125ORPHA024251058604610
HP:0000411HP:0000411Protruding ear0BLM CL E G H641125ORPHA020481058604610
HP:0000411HP:0000411Protruding ear0BMP1 CL E G H649614856Osteogenesis imperfecta, type xiii614856C3553887OMIM02971067112264
HP:0000411HP:0000411Protruding ear0BMP1 CL E G H649614856Osteogenesis imperfecta, type xiii614856C3553887OMIM03631067112264
HP:0000411HP:0000411Protruding ear0BMP4 CL E G H652607932Microphthalmia syndromic 6607932C1864689OMIM01291071112262
HP:0000411HP:0000411Protruding ear0BMP4 CL E G H652607932Microphthalmia syndromic 6607932C1864689OMIM01121071112262
HP:0000411HP:0000411Protruding ear0CHRNA7 CL E G H1139199318ORPHA03461960118511
HP:0000411HP:0000411Protruding ear0CHRNA7 CL E G H1139199318ORPHA03401960118511
HP:0000411HP:0000411Protruding ear0COL4A1 CL E G H1282899ORPHA010102202120130
HP:0000411HP:0000411Protruding ear0COL4A1 CL E G H1282899ORPHA08372202120130
HP:0000411HP:0000411Protruding ear0DAG1 CL E G H1605899ORPHA04672666128239
HP:0000411HP:0000411Protruding ear0DAG1 CL E G H1605899ORPHA03762666128239
HP:0000411HP:0000411Protruding ear0DCAF17 CL E G H80067241080Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities241080C0342286OMIM025125784612515
HP:0000411HP:0000411Protruding ear0DCAF17 CL E G H80067241080Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities241080C0342286OMIM022925784612515
HP:0000411HP:0000411Protruding ear0DOCK6 CL E G H57572614219Adams-Oliver syndrome 2614219C3280182OMIM047219189614194
HP:0000411HP:0000411Protruding ear0DOCK6 CL E G H57572614219Adams-Oliver syndrome 2614219C3280182OMIM036119189614194
HP:0000411HP:0000411Protruding ear0DPP6 CL E G H18042514ORPHA02253010126141
HP:0000411HP:0000411Protruding ear0DPP6 CL E G H18042514ORPHA02223010126141
HP:0000411HP:0000411Protruding ear0ERCC2 CL E G H2068601675Trichothiodystrophy 1, photosensitive601675C1866504OMIM04793434126340
HP:0000411HP:0000411Protruding ear0ERCC2 CL E G H2068601675Trichothiodystrophy 1, photosensitive601675C1866504OMIM03603434126340
HP:0000411HP:0000411Protruding ear0ERF CL E G H20773267ORPHA01203444611888
HP:0000411HP:0000411Protruding ear0ERF CL E G H20773267ORPHA01113444611888
HP:0000411HP:0000411Protruding ear0FAM20C CL E G H56975259775Raine syndrome259775C1850106OMIM029122140611061
HP:0000411HP:0000411Protruding ear0FAM20C CL E G H56975259775Raine syndrome259775C1850106OMIM024522140611061
HP:0000411HP:0000411Protruding ear0FBN1 CL E G H22002462ORPHA054573603134797
HP:0000411HP:0000411Protruding ear0FBN1 CL E G H22002462ORPHA049683603134797
HP:0000411HP:0000411Protruding ear0FKRP CL E G H79147899ORPHA067117997606596
HP:0000411HP:0000411Protruding ear0FKRP CL E G H79147899ORPHA057217997606596
HP:0000411HP:0000411Protruding ear0FKTN CL E G H2218899ORPHA06793622607440
HP:0000411HP:0000411Protruding ear0FKTN CL E G H2218899ORPHA05993622607440
HP:0000411HP:0000411Protruding ear0GJA1 CL E G H2697317Sacral hemangiomas multiple congenital abnormalitiesORPHA01914274121014
HP:0000411HP:0000411Protruding ear0GJA1 CL E G H2697317Sacral hemangiomas multiple congenital abnormalitiesORPHA01694274121014
HP:0000411HP:0000411Protruding ear0GJB3 CL E G H2707317Sacral hemangiomas multiple congenital abnormalitiesORPHA01564285603324
HP:0000411HP:0000411Protruding ear0GJB3 CL E G H2707317Sacral hemangiomas multiple congenital abnormalitiesORPHA01454285603324
HP:0000411HP:0000411Protruding ear0GJB4 CL E G H127534317Sacral hemangiomas multiple congenital abnormalitiesORPHA0544286605425
HP:0000411HP:0000411Protruding ear0GJB4 CL E G H127534317Sacral hemangiomas multiple congenital abnormalitiesORPHA0534286605425
HP:0000411HP:0000411Protruding ear0ISPD CL E G H729920899ORPHA054937276614631
HP:0000411HP:0000411Protruding ear0ISPD CL E G H729920899ORPHA054537276614631
HP:0000411HP:0000411Protruding ear0KDM5C CL E G H824285279ORPHA050911114314690
HP:0000411HP:0000411Protruding ear0KDM5C CL E G H824285279ORPHA048111114314690
HP:0000411HP:0000411Protruding ear0KDM6A CL E G H7403300867Kabuki syndrome 2300867C3275495OMIM056212637300128
HP:0000411HP:0000411Protruding ear0KDM6A CL E G H7403300867Kabuki syndrome 2300867C3275495OMIM050212637300128
HP:0000411HP:0000411Protruding ear0KDSR CL E G H2531317Sacral hemangiomas multiple congenital abnormalitiesORPHA0964021136440
HP:0000411HP:0000411Protruding ear0KDSR CL E G H2531317Sacral hemangiomas multiple congenital abnormalitiesORPHA0934021136440
HP:0000411HP:0000411Protruding ear0KIF11 CL E G H38322526ORPHA04986388148760
HP:0000411HP:0000411Protruding ear0KIF11 CL E G H38322526ORPHA04056388148760
HP:0000411HP:0000411Protruding ear0LARGE1 CL E G H9215899ORPHA05976511603590
HP:0000411HP:0000411Protruding ear0LARGE1 CL E G H9215899ORPHA05166511603590
HP:0000411HP:0000411Protruding ear0LRP4 CL E G H40383258Lindstrom syndromeORPHA06766696604270
HP:0000411HP:0000411Protruding ear0LRP4 CL E G H40383258Lindstrom syndromeORPHA05346696604270
HP:0000411HP:0000411Protruding ear0MED12 CL E G H9968776ORPHA0103411957300188
HP:0000411HP:0000411Protruding ear0MED12 CL E G H9968776ORPHA094111957300188
HP:0000411HP:0000411Protruding ear0MEGF8 CL E G H1954614976Carpenter syndrome 2614976C3554247OMIM04213233604267
HP:0000411HP:0000411Protruding ear0MEGF8 CL E G H1954614976Carpenter syndrome 2614976C3554247OMIM03553233604267
HP:0000411HP:0000411Protruding ear0MT-CO1 CL E G H4512550ORPHA07419516030
HP:0000411HP:0000411Protruding ear0MT-CO2 CL E G H4513550ORPHA07421516040
HP:0000411HP:0000411Protruding ear0MT-CO3 CL E G H4514550ORPHA07422516050
HP:0000411HP:0000411Protruding ear0MT-ND1 CL E G H4535550ORPHA07455516000
HP:0000411HP:0000411Protruding ear0MT-ND4 CL E G H4538550ORPHA07459516003
HP:0000411HP:0000411Protruding ear0MT-ND5 CL E G H4540550ORPHA07461516005
HP:0000411HP:0000411Protruding ear0MT-ND6 CL E G H4541550ORPHA07462516006
HP:0000411HP:0000411Protruding ear0MT-TF CL E G H4558550ORPHA07481590070
HP:0000411HP:0000411Protruding ear0MT-TH CL E G H4564550ORPHA07487590040
HP:0000411HP:0000411Protruding ear0MT-TL1 CL E G H4567550ORPHA07490590050
HP:0000411HP:0000411Protruding ear0MT-TQ CL E G H4572550ORPHA07495590030
HP:0000411HP:0000411Protruding ear0MT-TS1 CL E G H4574550ORPHA07497590080
HP:0000411HP:0000411Protruding ear0MT-TS2 CL E G H4575550ORPHA07498590085
HP:0000411HP:0000411Protruding ear0MT-TW CL E G H4578550ORPHA07501590095
HP:0000411HP:0000411Protruding ear0NDP CL E G H4693649ORPHA02637678300658
HP:0000411HP:0000411Protruding ear0NDP CL E G H4693649ORPHA02457678300658
HP:0000411HP:0000411Protruding ear0NEK1 CL E G H47502751Hunter Carpenter Macdonald syndromeORPHA04737744604588
HP:0000411HP:0000411Protruding ear0NEK1 CL E G H47502751Hunter Carpenter Macdonald syndromeORPHA04187744604588
HP:0000411HP:0000411Protruding ear0OBSL1 CL E G H23363612921Three M syndrome 2612921C2752041OMIM046129092610991
HP:0000411HP:0000411Protruding ear0OBSL1 CL E G H23363612921Three M syndrome 2612921C2752041OMIM062629092610991
HP:0000411HP:0000411Protruding ear0POMGNT1 CL E G H55624899ORPHA079719139606822
HP:0000411HP:0000411Protruding ear0POMGNT1 CL E G H55624899ORPHA066219139606822
HP:0000411HP:0000411Protruding ear0POMGNT2 CL E G H84892899ORPHA032225902614828
HP:0000411HP:0000411Protruding ear0POMGNT2 CL E G H84892899ORPHA026725902614828
HP:0000411HP:0000411Protruding ear0POMK CL E G H84197899ORPHA022426267615247
HP:0000411HP:0000411Protruding ear0POMK CL E G H84197899ORPHA019226267615247
HP:0000411HP:0000411Protruding ear0POMT1 CL E G H10585899ORPHA06869202607423
HP:0000411HP:0000411Protruding ear0POMT1 CL E G H10585899ORPHA06099202607423
HP:0000411HP:0000411Protruding ear0POMT2 CL E G H29954899ORPHA069119743607439
HP:0000411HP:0000411Protruding ear0POMT2 CL E G H29954899ORPHA060419743607439
HP:0000411HP:0000411Protruding ear0RXYLT1 CL E G H10329899ORPHA019413530605862
HP:0000411HP:0000411Protruding ear0RXYLT1 CL E G H10329899ORPHA015913530605862
HP:0000411HP:0000411Protruding ear0RYR1 CL E G H6261169186ORPHA0460410483180901
HP:0000411HP:0000411Protruding ear0RYR1 CL E G H6261169186ORPHA0410110483180901
HP:0000411HP:0000411Protruding ear0SKI CL E G H64972462ORPHA068610896164780
HP:0000411HP:0000411Protruding ear0SKI CL E G H64972462ORPHA062910896164780
HP:0000411HP:0000411Protruding ear0SLC16A2 CL E G H656759ORPHA031810923300095
HP:0000411HP:0000411Protruding ear0SLC16A2 CL E G H656759ORPHA029010923300095
HP:0000411HP:0000411Protruding ear0SON CL E G H6651500150ORPHA041911183182465
HP:0000411HP:0000411Protruding ear0SON CL E G H6651500150ORPHA032211183182465
HP:0000411HP:0000411Protruding ear0SPEG CL E G H10290169186ORPHA063716901615950
HP:0000411HP:0000411Protruding ear0SPEG CL E G H10290169186ORPHA026516901615950
HP:0000411HP:0000411Protruding ear0TBX4 CL E G H9496261279ORPHA023411603601719
HP:0000411HP:0000411Protruding ear0TBX4 CL E G H9496261279ORPHA016111603601719
HP:0000411HP:0000411Protruding ear0TP63 CL E G H862669085ORPHA044415979603273
HP:0000411HP:0000411Protruding ear0TP63 CL E G H862669085ORPHA037615979603273
HP:0000411HP:0000411Protruding ear0TP63 CL E G H86261071ORPHA044415979603273
HP:0000411HP:0000411Protruding ear0TP63 CL E G H86261071ORPHA037615979603273
HP:0000411HP:0000411Protruding ear0TRAIP CL E G H10293616777Seckel syndrome 9616777C4225212OMIM04630764605958
HP:0000411HP:0000411Protruding ear0TRAIP CL E G H10293616777Seckel syndrome 9616777C4225212OMIM04730764605958
HP:0000411HP:0000411Protruding ear0TTN CL E G H7273169186ORPHA01902812403188840
HP:0000411HP:0000411Protruding ear0TTN CL E G H7273169186ORPHA01798412403188840
HP:0000411HP:0000411Protruding ear0UPF3B CL E G H65109776ORPHA026920439300298
HP:0000411HP:0000411Protruding ear0UPF3B CL E G H65109776ORPHA026220439300298
HP:0000411HP:0000411Protruding ear0WDR19 CL E G H57728614378Cranioectodermal dysplasia 4614378C3280616OMIM047718340608151
HP:0000411HP:0000411Protruding ear0WDR19 CL E G H57728614378Cranioectodermal dysplasia 4614378C3280616OMIM064218340608151
HP:0000411HP:0000411Protruding ear0WNT4 CL E G H54361247768ORPHA04112783603490
HP:0000411HP:0000411Protruding ear0WNT4 CL E G H54361247768ORPHA03512783603490
HP:0000411HP:0000411Protruding ear0WNT7A CL E G H74762879ORPHA07812786601570
HP:0000411HP:0000411Protruding ear0WNT7A CL E G H74762879ORPHA07712786601570
HP:0000411HP:0000411Protruding ear0ZDHHC9 CL E G H51114776ORPHA030518475300646
HP:0000411HP:0000411Protruding ear0ZDHHC9 CL E G H51114776ORPHA029518475300646


Genes (144) :ALDH18A1 ANKRD11 ANTXR1 AP1S2 APC ARX ATP6V1A B3GALNT2 B3GLCT B4GAT1 BAZ1B BIN1 BLM BMP1 BMP4 CAMTA1 CCDC8 CHRNA7 CHST14 CLCF1 CLIP2 COL3A1 COL4A1 COL5A1 COL6A1 COL6A2 COL6A3 COX1 COX2 COX3 CRPPA CUL7 DAG1 DCAF17 DLX4 DOCK6 DPP6 DSE EDNRA EIF4A3 ELN ERCC2 ERF EXT1 EYA1 FAM20C FBN1 FBXL4 FGFR1 FKRP FKTN FLNA FMR1 FOXG1 FRMD4A GJA1 GJB3 GJB4 GTF2I GTF2IRD1 GTPBP2 KCTD1 KDM5C KDM6A KDSR KIF11 KMT2D LARGE1 LGI4 LIG4 LIMK1 LRP4 MBD5 MBTPS2 MED12 MEGF8 MYH3 NALCN ND1 ND4 ND5 ND6 NDP NECTIN1 NEK1 NHS NSUN2 OBSL1 OCRL OTUD6B PAX1 PIEZO2 PLK4 POMGNT1 POMGNT2 POMK POMT1 POMT2 PQBP1 PRUNE1 PTPN11 PYCR1 RAP1A RAP1B RB1 RFC2 RPL10 RPS6KA3 RXYLT1 RYR1 SCARF2 SH3PXD2B SHANK3 SKI SLC16A2 SON SPEG TAF1 TBL2 TBX22 TBX4 TFAP2B TNNI2 TNNT3 TP63 TPM2 TRAIP TRNF TRNH TRNL1 TRNQ TRNS1 TRNS2 TRNW TRPS1 TTN TUBGCP4 TUBGCP6 TXNL4A UPF3B WDR19 WNT4 WNT7A ZDHHC9

Diseases (100) :616603 261250 230740 85329 3258 2508 300004 617403 899 261540 904 169186 125 210900 614856 607932 614756 2616 614205 199318 601776 610313 286 254090 550 3464 241080 616788 614219 2514 615539 616367 268305 601675 3267 502 2792 259775 2462 615471 2645 300321 908 261144 616819 317 617988 181270 85279 2322 300867 2526 152950 617468 235 156200 85284 776 614976 1147 649 3253 2751 627 612921 534 617452 108145 2518 93947 309500 617481 151100 612940 1587 435938 300998 303600 192 600920 137834 249420 606232 59 500150 300966 302905 261279 169100 69085 1071 616777 77258 190350 190351 608572 614378 247768 2879 300799
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.