Human Phenotype Ontology 
Grandparent Node:
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Abnormal ear morphology (HP:0031703)help
Parent Node:
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Abnormality of the outer ear (HP:0000356)help
..Starting node
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External ear malformation (HP:0008572)help
Term ID: 8572
Name: External ear malformation
Synonym: External ear malformation
Definition: A malformation of the auricle of the ear.
Comments:
Reference: HP:0008572
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormal location of ears (HP:0000357) help
..expandAbnormal pinna morphology (HP:0000377) help
..expandAbnormality of cartilage of external ear (HP:3000022) help
..expandAbnormality of the auditory canal (HP:0000372) help
..expandAbnormality of the tympanic membrane (HP:0040090) help
..expandAplasia/Hypoplasia of the external ear (HP:0008772) help
..expandExtra concha fold (HP:0400002) help
..expandHypertrophic auricular cartilage (HP:0008608) help
..expandNeoplasm of the outer ear (HP:0040095) help
..expandobsolete Bilateral external ear deformity (HP:0040111) help
..expandPolyotia (HP:0100687) help
..expandTelangiectasia of the ear (HP:0009893) help
..expandUnilateral external ear deformity (HP:0008605) 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:0008572HP:0008572External ear malformation0ADAMTS3 CL E G H9508219ORPHA:2136Hennekam syndromeHP:0040281 - Very frequent1
HP:0008572HP:0008572External ear malformation0ANK1 CL E G H286492ORPHA:2510668p11.2 deletion syndromeHP:0040282 - Frequent150
HP:0008572HP:0008572External ear malformation0BCOR CL E G H5488020893ORPHA:568Microphthalmia, Lenz typeHP:0040282 - Frequent101
HP:0008572HP:0008572External ear malformation0BLNK CL E G H2976014211ORPHA:33110Autosomal agammaglobulinemiaHP:0040283 - Occasional4
HP:0008572HP:0008572External ear malformation0BRCA1 CL E G H6721100ORPHA:84Fanconi anemiaHP:0040283 - Occasional5769
HP:0008572HP:0008572External ear malformation0BRCA2 CL E G H6751101ORPHA:84Fanconi anemiaHP:0040283 - Occasional7642
HP:0008572HP:0008572External ear malformation0BRIP1 CL E G H8399020473ORPHA:84Fanconi anemiaHP:0040283 - Occasional1086
HP:0008572HP:0008572External ear malformation0CCBE1 CL E G H14737229426ORPHA:2136Hennekam syndromeHP:0040281 - Very frequent147
HP:0008572HP:0008572External ear malformation0CD79A CL E G H9731698ORPHA:33110Autosomal agammaglobulinemiaHP:0040283 - Occasional9
HP:0008572HP:0008572External ear malformation0CD79B CL E G H9741699ORPHA:33110Autosomal agammaglobulinemiaHP:0040283 - Occasional6
HP:0008572HP:0008572External ear malformation0CHD7 CL E G H5563620626ORPHA:138CHARGE syndromeHP:0040281 - Very frequent515
HP:0008572HP:0008572External ear malformation0CHN1 CL E G H11231943ORPHA:233Duane retraction syndromeHP:0040283 - Occasional35
HP:0008572HP:0008572External ear malformation0CHST14 CL E G H11318924464ORPHA:2953Musculocontractural Ehlers-Danlos syndromeHP:0040281 - Very frequent27
HP:0008572HP:0008572External ear malformation0CTH CL E G H14912501ORPHA:212CystathioninuriaHP:0040283 - Occasional38
HP:0008572HP:0008572External ear malformation0DACT1 CL E G H5133917748ORPHA:857Townes-Brocks syndromeHP:0040281 - Very frequent2
HP:0008572HP:0008572External ear malformation0DSE CL E G H2994021144ORPHA:2953Musculocontractural Ehlers-Danlos syndromeHP:0040281 - Very frequent13
HP:0008572HP:0008572External ear malformation0EDN1 CL E G H19063176ORPHA:137888Auriculocondylar syndromeHP:0040281 - Very frequent6
HP:0008572HP:0008572External ear malformation0ERCC4 CL E G H20723436ORPHA:84Fanconi anemiaHP:0040283 - Occasional158
HP:0008572HP:0008572External ear malformation0ESCO2 CL E G H15757027230ORPHA:3103Roberts syndromeHP:0040282 - Frequent92
HP:0008572HP:0008572External ear malformation0EYA1 CL E G H21383519ORPHA:107BOR syndromeHP:0040282 - Frequent135
HP:0008572HP:0008572External ear malformation0FANCA CL E G H21753582ORPHA:84Fanconi anemiaHP:0040283 - Occasional340
HP:0008572HP:0008572External ear malformation0FANCB CL E G H21873583ORPHA:84Fanconi anemiaHP:0040283 - Occasional58
HP:0008572HP:0008572External ear malformation0FANCC CL E G H21763584ORPHA:84Fanconi anemiaHP:0040283 - Occasional410
HP:0008572HP:0008572External ear malformation0FANCD2 CL E G H21773585ORPHA:84Fanconi anemiaHP:0040283 - Occasional147
HP:0008572HP:0008572External ear malformation0FANCE CL E G H21783586ORPHA:84Fanconi anemiaHP:0040283 - Occasional73
HP:0008572HP:0008572External ear malformation0FANCF CL E G H21883587ORPHA:84Fanconi anemiaHP:0040283 - Occasional87
HP:0008572HP:0008572External ear malformation0FANCG CL E G H21893588ORPHA:84Fanconi anemiaHP:0040283 - Occasional73
HP:0008572HP:0008572External ear malformation0FANCI CL E G H5521525568ORPHA:84Fanconi anemiaHP:0040283 - Occasional157
HP:0008572HP:0008572External ear malformation0FANCL CL E G H5512020748ORPHA:84Fanconi anemiaHP:0040283 - Occasional53
HP:0008572HP:0008572External ear malformation0FANCM CL E G H5769723168ORPHA:84Fanconi anemiaHP:0040283 - Occasional107
HP:0008572HP:0008572External ear malformation0FAT4 CL E G H7963323109ORPHA:2136Hennekam syndromeHP:0040281 - Very frequent114
HP:0008572HP:0008572External ear malformation0FGD1 CL E G H22453663ORPHA:915Aarskog-Scott syndromeHP:0040282 - Frequent62
HP:0008572HP:0008572External ear malformation0FGFR2 CL E G H22633689ORPHA:794Saethre-Chotzen syndromeHP:0040282 - Frequent175
HP:0008572HP:0008572External ear malformation0FGFR3 CL E G H22613690ORPHA:794Saethre-Chotzen syndromeHP:0040282 - Frequent145
HP:0008572HP:0008572External ear malformation0FRAS1 CL E G H8014419185ORPHA:2052Fraser syndromeHP:0040282 - Frequent353
HP:0008572HP:0008572External ear malformation0FREM2 CL E G H34164025396ORPHA:2052Fraser syndromeHP:0040282 - Frequent263
HP:0008572HP:0008572External ear malformation0GATA4 CL E G H26264173ORPHA:2510718p23.1 microdeletion syndromeHP:0040282 - Frequent87
HP:0008572HP:0008572External ear malformation0GJA1 CL E G H26974274ORPHA:2710Oculodentodigital dysplasiaHP:0040282 - Frequent68
HP:0008572HP:0008572External ear malformation0GNAI3 CL E G H27734387ORPHA:137888Auriculocondylar syndromeHP:0040281 - Very frequent2
HP:0008572HP:0008572External ear malformation0GRIP1 CL E G H2342618708ORPHA:2052Fraser syndromeHP:0040282 - Frequent80
HP:0008572HP:0008572External ear malformation0IGHM CL E G H35075541ORPHA:33110Autosomal agammaglobulinemiaHP:0040283 - Occasional7
HP:0008572HP:0008572External ear malformation0IGLL1 CL E G H35435870ORPHA:33110Autosomal agammaglobulinemiaHP:0040283 - Occasional3
HP:0008572HP:0008572External ear malformation0KIF1A CL E G H547888ORPHA:2836PEHO syndromeHP:0040281 - Very frequent276
HP:0008572HP:0008572External ear malformation0LRRC8A CL E G H5626219027ORPHA:33110Autosomal agammaglobulinemiaHP:0040283 - Occasional3
HP:0008572HP:0008572External ear malformation0MAD2L2 CL E G H104596764ORPHA:84Fanconi anemiaHP:0040283 - Occasional1
HP:0008572HP:0008572External ear malformation0MAFB CL E G H99356408ORPHA:233Duane retraction syndromeHP:0040283 - Occasional63
HP:0008572HP:0008572External ear malformation0MAPRE2 CL E G H109826891ORPHA:2505Multiple benign circumferential skin creases on limbsHP:0040283 - Occasional4
HP:0008572HP:0008572External ear malformation0NAA10 CL E G H826018704ORPHA:568Microphthalmia, Lenz typeHP:0040282 - Frequent23
HP:0008572HP:0008572External ear malformation0PALB2 CL E G H7972826144ORPHA:84Fanconi anemiaHP:0040283 - Occasional1349
HP:0008572HP:0008572External ear malformation0PEX1 CL E G H51898850ORPHA:912Zellweger syndromeHP:0040281 - Very frequent169
HP:0008572HP:0008572External ear malformation0PEX10 CL E G H51928851ORPHA:912Zellweger syndromeHP:0040281 - Very frequent75
HP:0008572HP:0008572External ear malformation0PEX11B CL E G H87998853ORPHA:912Zellweger syndromeHP:0040281 - Very frequent4
HP:0008572HP:0008572External ear malformation0PEX12 CL E G H51938854ORPHA:912Zellweger syndromeHP:0040281 - Very frequent65
HP:0008572HP:0008572External ear malformation0PEX13 CL E G H51948855ORPHA:912Zellweger syndromeHP:0040281 - Very frequent66
HP:0008572HP:0008572External ear malformation0PEX14 CL E G H51958856ORPHA:912Zellweger syndromeHP:0040281 - Very frequent46
HP:0008572HP:0008572External ear malformation0PEX16 CL E G H94098857ORPHA:912Zellweger syndromeHP:0040281 - Very frequent59
HP:0008572HP:0008572External ear malformation0PEX19 CL E G H58249713ORPHA:912Zellweger syndromeHP:0040281 - Very frequent62
HP:0008572HP:0008572External ear malformation0PEX2 CL E G H58289717ORPHA:912Zellweger syndromeHP:0040281 - Very frequent82
HP:0008572HP:0008572External ear malformation0PEX26 CL E G H5567022965ORPHA:912Zellweger syndromeHP:0040281 - Very frequent106
HP:0008572HP:0008572External ear malformation0PEX3 CL E G H85048858ORPHA:912Zellweger syndromeHP:0040281 - Very frequent47
HP:0008572HP:0008572External ear malformation0PEX5 CL E G H58309719ORPHA:912Zellweger syndromeHP:0040281 - Very frequent99
HP:0008572HP:0008572External ear malformation0PEX6 CL E G H51908859ORPHA:912Zellweger syndromeHP:0040281 - Very frequent98
HP:0008572HP:0008572External ear malformation0PIK3R1 CL E G H52958979ORPHA:33110Autosomal agammaglobulinemiaHP:0040283 - Occasional43
HP:0008572HP:0008572External ear malformation0PLCB4 CL E G H53329059ORPHA:137888Auriculocondylar syndromeHP:0040281 - Very frequent82
HP:0008572HP:0008572External ear malformation0PURA CL E G H58139701ORPHA:438216PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutationHP:0040283 - Occasional53
HP:0008572HP:0008572External ear malformation0RAD51 CL E G H58889817ORPHA:84Fanconi anemiaHP:0040283 - Occasional9
HP:0008572HP:0008572External ear malformation0RAD51C CL E G H58899820ORPHA:84Fanconi anemiaHP:0040283 - Occasional391
HP:0008572HP:0008572External ear malformation0RFWD3 CL E G H5515925539ORPHA:84Fanconi anemiaHP:0040283 - Occasional
HP:0008572HP:0008572External ear malformation0SALL1 CL E G H629910524ORPHA:857Townes-Brocks syndromeHP:0040281 - Very frequent124
HP:0008572HP:0008572External ear malformation0SALL4 CL E G H5716715924ORPHA:233Duane retraction syndromeHP:0040283 - Occasional86
HP:0008572HP:0008572External ear malformation0SEMA3E CL E G H972310727ORPHA:138CHARGE syndromeHP:0040281 - Very frequent16
HP:0008572HP:0008572External ear malformation0SIX1 CL E G H649510887ORPHA:107BOR syndromeHP:0040282 - Frequent50
HP:0008572HP:0008572External ear malformation0SIX5 CL E G H14791210891ORPHA:107BOR syndromeHP:0040282 - Frequent10
HP:0008572HP:0008572External ear malformation0SLX4 CL E G H8446423845ORPHA:84Fanconi anemiaHP:0040283 - Occasional274
HP:0008572HP:0008572External ear malformation0TBCE CL E G H690511582ORPHA:2323Sanjad-Sakati syndromeHP:0040281 - Very frequent52
HP:0008572HP:0008572External ear malformation0TCF3 CL E G H692911633ORPHA:33110Autosomal agammaglobulinemiaHP:0040283 - Occasional2
HP:0008572HP:0008572External ear malformation0TP63 CL E G H862615979ORPHA:1896EEC syndromeHP:0040283 - Occasional140
HP:0008572HP:0008572External ear malformation0TUBB CL E G H20306820778ORPHA:2505Multiple benign circumferential skin creases on limbsHP:0040283 - Occasional14
HP:0008572HP:0008572External ear malformation0TWIST1 CL E G H729112428ORPHA:794Saethre-Chotzen syndromeHP:0040282 - Frequent18
HP:0008572HP:0008572External ear malformation0UBE2T CL E G H2908925009ORPHA:84Fanconi anemiaHP:0040283 - Occasional2
HP:0008572HP:0008572External ear malformation0XRCC2 CL E G H751612829ORPHA:84Fanconi anemiaHP:0040283 - Occasional125
HP:0008572HP:0008572External ear malformation0ZNHIT3 CL E G H932612309ORPHA:2836PEHO syndromeHP:0040281 - Very frequent1


Genes (82) :ADAMTS3 ANK1 BCOR BLNK BRCA1 BRCA2 BRIP1 CCBE1 CD79A CD79B CHD7 CHN1 CHST14 CTH DACT1 DSE EDN1 ERCC4 ESCO2 EYA1 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FAT4 FGD1 FGFR2 FGFR3 FRAS1 FREM2 GATA4 GJA1 GNAI3 GRIP1 IGHM IGLL1 KIF1A LRRC8A MAD2L2 MAFB MAPRE2 NAA10 PALB2 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PIK3R1 PLCB4 PURA RAD51 RAD51C RFWD3 SALL1 SALL4 SEMA3E SIX1 SIX5 SLX4 TBCE TCF3 TP63 TUBB TWIST1 UBE2T XRCC2 ZNHIT3

Diseases (24) :ORPHA:2136 ORPHA:251066 ORPHA:568 ORPHA:33110 ORPHA:84 ORPHA:138 ORPHA:233 ORPHA:2953 ORPHA:212 ORPHA:857 ORPHA:137888 ORPHA:3103 ORPHA:107 ORPHA:915 ORPHA:794 ORPHA:2052 ORPHA:251071 ORPHA:2710 ORPHA:2836 ORPHA:2505 ORPHA:912 ORPHA:438216 ORPHA:2323 ORPHA:1896
 

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