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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Abnormality of the pinna (HP:0000377)help
Term ID: 377
Name: Abnormality of the pinna
Synonym: Abnormal form of ears; Abnormally shaped ears; Auricular malformation; Deformed auricles; Deformed ears; Dysplastic ears; Malformation of auricle; Malformed auricles; Malformed ears; Malformed external ears; Minor malformation of the auricles; Poorly defined conchae; Simple ears
Definition: An abnormality of the pinna, which is also referred to as the auricle or external ear.
Comments:
Reference: HP:0000377
Genes and Diseases:
 
       Child Nodes:
........expandAbnormality of earlobe (HP:0000363) help
................... HP:0004461 Congenital earlobe sinuses
................... HP:0009748 Large earlobe
................... HP:0009906 Aplasia/Hypoplasia of the earlobes
................... HP:0009907 Attached earlobe
................... HP:0009908 Anterior creases of earlobe
................... HP:0009909 Uplifted earlobe
................... HP:0011263 Forward facing earlobe
................... HP:0011265 Cleft earlobe
................... HP:0031510 Linear earlobe crease
................... HP:0031511 Diagonal earlobe crease
........expandCupped ear (HP:0000378) help
........expandLop ear (HP:0000394) help
........expandMacrotia (HP:0000400) help
................... HP:0002265 Large fleshy ears
........expandProtruding ear (HP:0000411) help
........expandCalcification of the auricular cartilage (HP:0005103) help
........expandMicrotia (HP:0008551) help
................... HP:0008569 Microtia, second degree
................... HP:0011266 Microtia, first degree
................... HP:0011267 Microtia, third degree
........expandAbnormality of the antihelix (HP:0009738) help
................... HP:0000395 Prominent antihelix
................... HP:0009739 Hypoplasia of the antihelix
................... HP:0011233 Antihelical shelf
................... HP:0011234 Absent antihelix
................... HP:0011235 Additional crus of antihelix
................... HP:0011236 Angulated antihelix
................... HP:0011243 Abnormality of inferior crus of antihelix
................... HP:0011244 Abnormality of stem of antihelix
................... HP:0011245 Abnormality of superior crus of antihelix
........expandThickened ears (HP:0009894) help
........expandAbnormality of the antitragus (HP:0009896) help
................... HP:0008593 Prominent antitragus
................... HP:0011248 Everted antitragus
................... HP:0011249 Absent antitragus
................... HP:0011250 Bifid antitragus
................... HP:0011251 Underdeveloped antitragus
........expandCrumpled ear (HP:0009901) help
........expandAbnormality of the tragus (HP:0009912) help
................... HP:0009913 Aplasia/Hypoplasia of the tragus
................... HP:0011269 Bifid tragus
................... HP:0011270 Duplicated tragus
................... HP:0011271 Prominent tragus
........expandAsymmetry of the ears (HP:0010722) help
................... HP:0040091 Asymmetry of the size of ears
................... HP:0040092 Asymmetry of the shape of the ears
................... HP:0040093 Asymmetry of the position of the ears
........expandCystic lesions of the pinnae (HP:0010723) help
........expandAbnormality of the helix (HP:0011039) help
................... HP:0000391 Thickened helices
................... HP:0008523 Posterior helix pit
................... HP:0008528 Long hairs growing from helix of pinna
................... HP:0008544 Abnormally folded helix
................... HP:0008589 Hypoplastic helices
................... HP:0009895 Abnormality of the crus of the helix
................... HP:0009902 Cleft helix
................... HP:0009904 Prominent ear helix
................... HP:0009905 Thin ear helix
................... HP:0011261 Darwin tubercle of helix
................... HP:0011262 Crimped helix
................... HP:0011264 Discontinuous ascending root of helix
................... HP:0030026 Squared superior portion of helix
................... HP:0031228 Abnormal incisura morphology
................... HP:0100810 Pointed helix
........expandCryptotia (HP:0011252) help
................... HP:0011253 Type I cryptotia
................... HP:0011254 Type II cryptotia
........expandAuricular tag (HP:0030021) help
........expandQuestion mark ear (HP:0030022) help
........expandQuelprud Nodule (HP:0030023) help
........expandAuricular pit (HP:0030025) help
........expandSatyr ear (HP:0030676) help
........expandMozart ear (HP:0030677) help
........expandAbnormal number of tubercles (HP:0040112) help
........expandHypoplasia of the ear cartilage (HP:0100720) help
........expandRound ear (HP:0100830) help
........expandChondritis of pinna (HP:0200047) help
........expandLong ear (HP:0400004) help
........expandShort ear (HP:0400005) help

 Sister Nodes: 
..expandAbnormal location of ears (HP:0000357) 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
..expandBilateral external ear deformity (HP:0040111) help
..expandExternal ear malformation (HP:0008572) help
..expandExtra concha fold (HP:0400002) help
..expandHypertrophic auricular cartilage (HP:0008608) help
..expandNeoplasm of the outer ear (HP:0040095) help
..expandPolyotia (HP:0100687) help
..expandTelangiectasia of the ear (HP:0009893) help
..expandUnilateral external ear deformity (HP:0008605) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0000377HP:0000377Abnormality of the pinna0ACTG1 CL E G H71614583Baraitser-Winter Syndrome 2614583C3281235OMIM148261144102560
HP:0000377HP:0000377Abnormality of the pinna0ALG12 CL E G H79087607143ALG12-congenital disorder of glycosylation607143C2931001OMIM11626319358607144
HP:0000377HP:0000377Abnormality of the pinna0AMPD2 CL E G H271615809Pontocerebellar hypoplasia, type 9615809C4014354OMIM11898469102771
HP:0000377HP:0000377Abnormality of the pinna0ARID1A CL E G H8289614607Mental retardation, autosomal dominant 14614607C3553247OMIM13617511110603024
HP:0000377HP:0000377Abnormality of the pinna0ARID1B CL E G H57492251056ORPHA118857518040614556
HP:0000377HP:0000377Abnormality of the pinna0ATR CL E G H545210600Seckel syndrome 1210600CN033164OMIM134404882601215
HP:0000377HP:0000377Abnormality of the pinna0BRPF1 CL E G H7862617333Intellectual developmental disorder with dysmorphic facies and ptosis617333C4310617OMIM11811514255602410
HP:0000377HP:0000377Abnormality of the pinna0CCDC47 CL E G H57003618268618268618268OMIM1520248560
HP:0000377HP:0000377Abnormality of the pinna0CDK10 CL E G H8558617694AL KAISSI SYNDROME617694C4540156OMIM17691770603464
HP:0000377HP:0000377Abnormality of the pinna0COG7 CL E G H91949608779COG7 congenital disorder of glycosylation608779C2931010OMIM1515918622606978
HP:0000377HP:0000377Abnormality of the pinna0COL11A1 CL E G H1301228520Fibrochondrogenesis228520C0265282OMIM11065602186120280
HP:0000377HP:0000377Abnormality of the pinna0COLEC10 CL E G H10584248340Malpuech facial clefting syndrome248340C0796032OMIM14532220607620
HP:0000377HP:0000377Abnormality of the pinna0CPLX1 CL E G H108151941904p partial monosomy syndrome194190C1956097OMIM131432309605032
HP:0000377HP:0000377Abnormality of the pinna0CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM13647552348600140
HP:0000377HP:0000377Abnormality of the pinna0CTBP1 CL E G H14871941904p partial monosomy syndrome194190C1956097OMIM111642494602618
HP:0000377HP:0000377Abnormality of the pinna0CUL4B CL E G H8450300354Syndromic X-linked mental retardation, Cabezas type300354C1845861OMIM1402472555300304
HP:0000377HP:0000377Abnormality of the pinna0DOCK7 CL E G H85440615859Epileptic encephalopathy, early infantile, 23615859C4014492OMIM1744619190615730
HP:0000377HP:0000377Abnormality of the pinna0DYRK1A CL E G H1859614104Mental retardation, autosomal dominant 7614104C3279839OMIM1774373091600855
HP:0000377HP:0000377Abnormality of the pinna0EBP CL E G H10682302960Chondrodysplasia punctata 2 X-linked dominant302960C0282102OMIM1912373133300205
HP:0000377HP:0000377Abnormality of the pinna0EFEMP2 CL E G H30008614437Autosomal recessive cutis laxa type 1B614437C3280798OMIM1171803219604633
HP:0000377HP:0000377Abnormality of the pinna0EHMT1 CL E G H79813610253Chromosome 9q deletion syndrome610253C0795833OMIM19474624650607001
HP:0000377HP:0000377Abnormality of the pinna0EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM11074153373602700
HP:0000377HP:0000377Abnormality of the pinna0ERCC6 CL E G H2074133540Cockayne syndrome B133540C0751038OMIM11404993438609413
HP:0000377HP:0000377Abnormality of the pinna0ERCC8 CL E G H1161216400Cockayne syndrome type A216400C0751039OMIM1701993439609412
HP:0000377HP:0000377Abnormality of the pinna0ETFA CL E G H2108231680Glutaric aciduria, type 2231680C0268596OMIM1301243481608053
HP:0000377HP:0000377Abnormality of the pinna0ETFB CL E G H2109231680Glutaric aciduria, type 2231680C0268596OMIM1151063482130410
HP:0000377HP:0000377Abnormality of the pinna0ETFDH CL E G H2110231680Glutaric aciduria, type 2231680C0268596OMIM11912563483231675
HP:0000377HP:0000377Abnormality of the pinna0FGFR2 CL E G H2263207410Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis207410C2936791OMIM11593363689176943
HP:0000377HP:0000377Abnormality of the pinna0FGFRL1 CL E G H538341941904p partial monosomy syndrome194190C1956097OMIM171993693605830
HP:0000377HP:0000377Abnormality of the pinna0FLNA CL E G H231690652ORPHA127114723754300017
HP:0000377HP:0000377Abnormality of the pinna0FRAS1 CL E G H80144219000Cryptophthalmos syndrome219000C0265233OMIM16167519185607830
HP:0000377HP:0000377Abnormality of the pinna0HMGB3 CL E G H3149300915Microphthalmia, syndromic 13300915C3806742OMIM111865004300193
HP:0000377HP:0000377Abnormality of the pinna0ICK CL E G H22858612651Endocrine-cerebroosteodysplasia612651C2675227OMIM1321219612325
HP:0000377HP:0000377Abnormality of the pinna0KIAA0586 CL E G H9786616546Short-rib thoracic dysplasia 14 with polydactyly616546C4225286OMIM13115519960610178
HP:0000377HP:0000377Abnormality of the pinna0LETM1 CL E G H39541941904p partial monosomy syndrome194190C1956097OMIM141756556604407
HP:0000377HP:0000377Abnormality of the pinna0LMNA CL E G H4000275210Lethal tight skin contracture syndrome275210C0406585OMIM157411526636150330
HP:0000377HP:0000377Abnormality of the pinna0MEOX1 CL E G H4222214300Klippel-Feil syndrome 2, autosomal recessive214300C1859209OMIM14397013600147
HP:0000377HP:0000377Abnormality of the pinna0NANS CL E G H54187610442Spondyloepimetaphyseal dysplasia Genevieve type610442C1864872OMIM1126119237605202
HP:0000377HP:0000377Abnormality of the pinna0NSD2 CL E G H74681941904p partial monosomy syndrome194190C1956097OMIM11422012766602952
HP:0000377HP:0000377Abnormality of the pinna0PLOD3 CL E G H8985612394Bone fragility with contractures, arterial rupture, and deafness612394C2676285OMIM13919083603066
HP:0000377HP:0000377Abnormality of the pinna0POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM1922259208124015
HP:0000377HP:0000377Abnormality of the pinna0POR CL E G H5447207410Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis207410C2936791OMIM1922259208124015
HP:0000377HP:0000377Abnormality of the pinna0PORCN CL E G H64840305600Focal dermal hypoplasia305600C0016395OMIM112121017652300651
HP:0000377HP:0000377Abnormality of the pinna0PSAT1 CL E G H29968616038Neu-laxova syndrome 2616038C4015019OMIM11032319129610936
HP:0000377HP:0000377Abnormality of the pinna0PTF1A CL E G H256297609069Diabetes mellitus, permanent neonatal, with cerebellar agenesis609069C1836780OMIM1166723734607194
HP:0000377HP:0000377Abnormality of the pinna0RAB23 CL E G H51715201000Carpenter syndrome 1201000C1275078OMIM11510514263606144
HP:0000377HP:0000377Abnormality of the pinna0RAC1 CL E G H5879617751MENTAL RETARDATION, AUTOSOMAL DOMINANT 48617751C4540321OMIM117699801602048
HP:0000377HP:0000377Abnormality of the pinna0RNU4ATAC CL E G H100151683210710Osteodysplastic primordial dwarfism, type 1210710C1859452OMIM1245634016601428
HP:0000377HP:0000377Abnormality of the pinna0RPS23 CL E G H6228617412MacInnes syndrome617412C4479431OMIM121310410603683
HP:0000377HP:0000377Abnormality of the pinna0SKI CL E G H6497182212Shprintzen-Goldberg syndrome182212C1321551OMIM12450210896164780
HP:0000377HP:0000377Abnormality of the pinna0SLC25A24 CL E G H29957612289Fontaine progeroid syndrome612289C2676780OMIM123520662608744
HP:0000377HP:0000377Abnormality of the pinna0SMARCD2 CL E G H6603617475Specific granule deficiency 2617475C4479548OMIM112411107601736
HP:0000377HP:0000377Abnormality of the pinna0SMG9 CL E G H56006616920Heart and brain malformation syndrome616920C4310793OMIM122925763613176
HP:0000377HP:0000377Abnormality of the pinna0SMS CL E G H6611309583Snyder Robinson syndrome309583C0796160OMIM11520611123300105
HP:0000377HP:0000377Abnormality of the pinna0TAB2 CL E G H23118228410ORPHA1335317075605101
HP:0000377HP:0000377Abnormality of the pinna0TBX15 CL E G H691393333ORPHA153811594604127
HP:0000377HP:0000377Abnormality of the pinna0TFAP2A CL E G H70201297ORPHA1448211742107580
HP:0000377HP:0000377Abnormality of the pinna0TGDS CL E G H23483616145Catel Manzke syndrome616145C1844887OMIM178120324616146
HP:0000377HP:0000377Abnormality of the pinna0TRAF7 CL E G H84231618164CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY618164OMIM156420456606692
HP:0000377HP:0000377Abnormality of the pinna0TWIST2 CL E G H117581209885Barber-Say syndrome209885C1319466OMIM198820670607556
HP:0000377HP:0000377Abnormality of the pinna0UBE3B CL E G H89910244450Kaufman oculocerebrofacial syndrome244450C1855663OMIM1255413478608047
HP:0000377HP:0000377Abnormality of the pinna0WAC CL E G H51322616708Desanto-shinawi syndrome616708C4225239OMIM1257717327615049
HP:0000377HP:0000377Abnormality of the pinna0WDR35 CL E G H57539613610Cranioectodermal dysplasia 2613610C3150874OMIM13129229250613602
HP:0000377HP:0000377Abnormality of the pinna0WFS1 CL E G H7466411590ORPHA139371412762606201
HP:0000377HP:0000377Abnormality of the pinna0WHCR CL E G H74671941904p partial monosomy syndrome194190C1956097OMIM1127640
HP:0000377HP:0000377Abnormality of the pinna0YY1 CL E G H7528617557GABRIELE-DE VRIES SYNDROME617557C4479652OMIM1235712856600013
HP:0000377HP:0000377Abnormality of the pinna0ZBTB18 CL E G H10472612337Mental retardation, autosomal dominant 22612337C2676727OMIM13213813030608433
HP:0000377HP:0000377Abnormality of the pinna0ZMPSTE24 CL E G H10269275210Lethal tight skin contracture syndrome275210C0406585OMIM13413612877606480
HP:0000377HP:0000377Abnormality of the pinna0ZNF148 CL E G H7707617260Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies617260C4310644OMIM144212933601897
HP:0000377HP:0000377Abnormality of the pinna1ACTG1 CL E G H71614583Baraitser-Winter Syndrome 2614583C3281235OMIM148261144102560
HP:0000377HP:0000377Abnormality of the pinna1ALG12 CL E G H79087607143ALG12-congenital disorder of glycosylation607143C2931001OMIM11626319358607144
HP:0000377HP:0000377Abnormality of the pinna1AMPD2 CL E G H271615809Pontocerebellar hypoplasia, type 9615809C4014354OMIM11898469102771
HP:0000377HP:0000377Abnormality of the pinna1ARID1A CL E G H8289614607Mental retardation, autosomal dominant 14614607C3553247OMIM13617511110603024
HP:0000377HP:0000377Abnormality of the pinna1ARID1B CL E G H57492251056ORPHA118857518040614556
HP:0000377HP:0000377Abnormality of the pinna1ATR CL E G H545210600Seckel syndrome 1210600CN033164OMIM134404882601215
HP:0000377HP:0000377Abnormality of the pinna1BRPF1 CL E G H7862617333Intellectual developmental disorder with dysmorphic facies and ptosis617333C4310617OMIM11811514255602410
HP:0000377HP:0000377Abnormality of the pinna1CCDC47 CL E G H57003618268618268618268OMIM1520248560
HP:0000377HP:0000377Abnormality of the pinna1CDK10 CL E G H8558617694AL KAISSI SYNDROME617694C4540156OMIM17691770603464
HP:0000377HP:0000377Abnormality of the pinna1COG7 CL E G H91949608779COG7 congenital disorder of glycosylation608779C2931010OMIM1515918622606978
HP:0000377HP:0000377Abnormality of the pinna1COL11A1 CL E G H1301228520Fibrochondrogenesis228520C0265282OMIM11065602186120280
HP:0000377HP:0000377Abnormality of the pinna1COLEC10 CL E G H10584248340Malpuech facial clefting syndrome248340C0796032OMIM14532220607620
HP:0000377HP:0000377Abnormality of the pinna1CPLX1 CL E G H108151941904p partial monosomy syndrome194190C1956097OMIM131432309605032
HP:0000377HP:0000377Abnormality of the pinna1CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM13647552348600140
HP:0000377HP:0000377Abnormality of the pinna1CTBP1 CL E G H14871941904p partial monosomy syndrome194190C1956097OMIM111642494602618
HP:0000377HP:0000377Abnormality of the pinna1CUL4B CL E G H8450300354Syndromic X-linked mental retardation, Cabezas type300354C1845861OMIM1402472555300304
HP:0000377HP:0000377Abnormality of the pinna1DOCK7 CL E G H85440615859Epileptic encephalopathy, early infantile, 23615859C4014492OMIM1744619190615730
HP:0000377HP:0000377Abnormality of the pinna1DYRK1A CL E G H1859614104Mental retardation, autosomal dominant 7614104C3279839OMIM1774373091600855
HP:0000377HP:0000377Abnormality of the pinna1EBP CL E G H10682302960Chondrodysplasia punctata 2 X-linked dominant302960C0282102OMIM1912373133300205
HP:0000377HP:0000377Abnormality of the pinna1EFEMP2 CL E G H30008614437Autosomal recessive cutis laxa type 1B614437C3280798OMIM1171803219604633
HP:0000377HP:0000377Abnormality of the pinna1EHMT1 CL E G H79813610253Chromosome 9q deletion syndrome610253C0795833OMIM19474624650607001
HP:0000377HP:0000377Abnormality of the pinna1EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM11074153373602700
HP:0000377HP:0000377Abnormality of the pinna1ERCC6 CL E G H2074133540Cockayne syndrome B133540C0751038OMIM11404993438609413
HP:0000377HP:0000377Abnormality of the pinna1ERCC8 CL E G H1161216400Cockayne syndrome type A216400C0751039OMIM1701993439609412
HP:0000377HP:0000377Abnormality of the pinna1ETFA CL E G H2108231680Glutaric aciduria, type 2231680C0268596OMIM1301243481608053
HP:0000377HP:0000377Abnormality of the pinna1ETFB CL E G H2109231680Glutaric aciduria, type 2231680C0268596OMIM1151063482130410
HP:0000377HP:0000377Abnormality of the pinna1ETFDH CL E G H2110231680Glutaric aciduria, type 2231680C0268596OMIM11912563483231675
HP:0000377HP:0000377Abnormality of the pinna1FGFR2 CL E G H2263207410Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis207410C2936791OMIM11593363689176943
HP:0000377HP:0000377Abnormality of the pinna1FGFRL1 CL E G H538341941904p partial monosomy syndrome194190C1956097OMIM171993693605830
HP:0000377HP:0000377Abnormality of the pinna1FLNA CL E G H231690652ORPHA127114723754300017
HP:0000377HP:0000377Abnormality of the pinna1FRAS1 CL E G H80144219000Cryptophthalmos syndrome219000C0265233OMIM16167519185607830
HP:0000377HP:0000377Abnormality of the pinna1HMGB3 CL E G H3149300915Microphthalmia, syndromic 13300915C3806742OMIM111865004300193
HP:0000377HP:0000377Abnormality of the pinna1ICK CL E G H22858612651Endocrine-cerebroosteodysplasia612651C2675227OMIM1321219612325
HP:0000377HP:0000377Abnormality of the pinna1KIAA0586 CL E G H9786616546Short-rib thoracic dysplasia 14 with polydactyly616546C4225286OMIM13115519960610178
HP:0000377HP:0000377Abnormality of the pinna1LETM1 CL E G H39541941904p partial monosomy syndrome194190C1956097OMIM141756556604407
HP:0000377HP:0000377Abnormality of the pinna1LMNA CL E G H4000275210Lethal tight skin contracture syndrome275210C0406585OMIM157411526636150330
HP:0000377HP:0000377Abnormality of the pinna1MEOX1 CL E G H4222214300Klippel-Feil syndrome 2, autosomal recessive214300C1859209OMIM14397013600147
HP:0000377HP:0000377Abnormality of the pinna1NANS CL E G H54187610442Spondyloepimetaphyseal dysplasia Genevieve type610442C1864872OMIM1126119237605202
HP:0000377HP:0000377Abnormality of the pinna1NSD2 CL E G H74681941904p partial monosomy syndrome194190C1956097OMIM11422012766602952
HP:0000377HP:0000377Abnormality of the pinna1PLOD3 CL E G H8985612394Bone fragility with contractures, arterial rupture, and deafness612394C2676285OMIM13919083603066
HP:0000377HP:0000377Abnormality of the pinna1POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM1922259208124015
HP:0000377HP:0000377Abnormality of the pinna1POR CL E G H5447207410Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis207410C2936791OMIM1922259208124015
HP:0000377HP:0000377Abnormality of the pinna1PORCN CL E G H64840305600Focal dermal hypoplasia305600C0016395OMIM112121017652300651
HP:0000377HP:0000377Abnormality of the pinna1PSAT1 CL E G H29968616038Neu-laxova syndrome 2616038C4015019OMIM11032319129610936
HP:0000377HP:0000377Abnormality of the pinna1PTF1A CL E G H256297609069Diabetes mellitus, permanent neonatal, with cerebellar agenesis609069C1836780OMIM1166723734607194
HP:0000377HP:0000377Abnormality of the pinna1RAB23 CL E G H51715201000Carpenter syndrome 1201000C1275078OMIM11510514263606144
HP:0000377HP:0000377Abnormality of the pinna1RAC1 CL E G H5879617751MENTAL RETARDATION, AUTOSOMAL DOMINANT 48617751C4540321OMIM117699801602048
HP:0000377HP:0000377Abnormality of the pinna1RNU4ATAC CL E G H100151683210710Osteodysplastic primordial dwarfism, type 1210710C1859452OMIM1245634016601428
HP:0000377HP:0000377Abnormality of the pinna1RPS23 CL E G H6228617412MacInnes syndrome617412C4479431OMIM121310410603683
HP:0000377HP:0000377Abnormality of the pinna1SKI CL E G H6497182212Shprintzen-Goldberg syndrome182212C1321551OMIM12450210896164780
HP:0000377HP:0000377Abnormality of the pinna1SLC25A24 CL E G H29957612289Fontaine progeroid syndrome612289C2676780OMIM123520662608744
HP:0000377HP:0000377Abnormality of the pinna1SMARCD2 CL E G H6603617475Specific granule deficiency 2617475C4479548OMIM112411107601736
HP:0000377HP:0000377Abnormality of the pinna1SMG9 CL E G H56006616920Heart and brain malformation syndrome616920C4310793OMIM122925763613176
HP:0000377HP:0000377Abnormality of the pinna1SMS CL E G H6611309583Snyder Robinson syndrome309583C0796160OMIM11520611123300105
HP:0000377HP:0000377Abnormality of the pinna1TAB2 CL E G H23118228410ORPHA1335317075605101
HP:0000377HP:0000377Abnormality of the pinna1TBX15 CL E G H691393333ORPHA153811594604127
HP:0000377HP:0000377Abnormality of the pinna1TFAP2A CL E G H70201297ORPHA1448211742107580
HP:0000377HP:0000377Abnormality of the pinna1TGDS CL E G H23483616145Catel Manzke syndrome616145C1844887OMIM178120324616146
HP:0000377HP:0000377Abnormality of the pinna1TRAF7 CL E G H84231618164CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY618164OMIM156420456606692
HP:0000377HP:0000377Abnormality of the pinna1TWIST2 CL E G H117581209885Barber-Say syndrome209885C1319466OMIM198820670607556
HP:0000377HP:0000377Abnormality of the pinna1UBE3B CL E G H89910244450Kaufman oculocerebrofacial syndrome244450C1855663OMIM1255413478608047
HP:0000377HP:0000377Abnormality of the pinna1WAC CL E G H51322616708Desanto-shinawi syndrome616708C4225239OMIM1257717327615049
HP:0000377HP:0000377Abnormality of the pinna1WDR35 CL E G H57539613610Cranioectodermal dysplasia 2613610C3150874OMIM13129229250613602
HP:0000377HP:0000377Abnormality of the pinna1WFS1 CL E G H7466411590ORPHA139371412762606201
HP:0000377HP:0000377Abnormality of the pinna1WHCR CL E G H74671941904p partial monosomy syndrome194190C1956097OMIM1127640
HP:0000377HP:0000377Abnormality of the pinna1YY1 CL E G H7528617557GABRIELE-DE VRIES SYNDROME617557C4479652OMIM1235712856600013
HP:0000377HP:0000377Abnormality of the pinna1ZBTB18 CL E G H10472612337Mental retardation, autosomal dominant 22612337C2676727OMIM13213813030608433
HP:0000377HP:0000377Abnormality of the pinna1ZMPSTE24 CL E G H10269275210Lethal tight skin contracture syndrome275210C0406585OMIM13413612877606480
HP:0000377HP:0000377Abnormality of the pinna1ZNF148 CL E G H7707617260Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies617260C4310644OMIM144212933601897
HP:0000377HP:0000377Abnormality of the pinna2ACTG1 CL E G H71614583Baraitser-Winter Syndrome 2614583C3281235OMIM148261144102560
HP:0000377HP:0000377Abnormality of the pinna2ALG12 CL E G H79087607143ALG12-congenital disorder of glycosylation607143C2931001OMIM11626319358607144
HP:0000377HP:0000377Abnormality of the pinna2AMPD2 CL E G H271615809Pontocerebellar hypoplasia, type 9615809C4014354OMIM11898469102771
HP:0000377HP:0000377Abnormality of the pinna2ARID1A CL E G H8289614607Mental retardation, autosomal dominant 14614607C3553247OMIM13617511110603024
HP:0000377HP:0000377Abnormality of the pinna2ARID1B CL E G H57492251056ORPHA118857518040614556
HP:0000377HP:0000377Abnormality of the pinna2ATR CL E G H545210600Seckel syndrome 1210600CN033164OMIM134404882601215
HP:0000377HP:0000377Abnormality of the pinna2BRPF1 CL E G H7862617333Intellectual developmental disorder with dysmorphic facies and ptosis617333C4310617OMIM11811514255602410
HP:0000377HP:0000377Abnormality of the pinna2CCDC47 CL E G H57003618268618268618268OMIM1520248560
HP:0000377HP:0000377Abnormality of the pinna2CDK10 CL E G H8558617694AL KAISSI SYNDROME617694C4540156OMIM17691770603464
HP:0000377HP:0000377Abnormality of the pinna2COG7 CL E G H91949608779COG7 congenital disorder of glycosylation608779C2931010OMIM1515918622606978
HP:0000377HP:0000377Abnormality of the pinna2COL11A1 CL E G H1301228520Fibrochondrogenesis228520C0265282OMIM11065602186120280
HP:0000377HP:0000377Abnormality of the pinna2COLEC10 CL E G H10584248340Malpuech facial clefting syndrome248340C0796032OMIM14532220607620
HP:0000377HP:0000377Abnormality of the pinna2CPLX1 CL E G H108151941904p partial monosomy syndrome194190C1956097OMIM131432309605032
HP:0000377HP:0000377Abnormality of the pinna2CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM13647552348600140
HP:0000377HP:0000377Abnormality of the pinna2CTBP1 CL E G H14871941904p partial monosomy syndrome194190C1956097OMIM111642494602618
HP:0000377HP:0000377Abnormality of the pinna2CUL4B CL E G H8450300354Syndromic X-linked mental retardation, Cabezas type300354C1845861OMIM1402472555300304
HP:0000377HP:0000377Abnormality of the pinna2DOCK7 CL E G H85440615859Epileptic encephalopathy, early infantile, 23615859C4014492OMIM1744619190615730
HP:0000377HP:0000377Abnormality of the pinna2DYRK1A CL E G H1859614104Mental retardation, autosomal dominant 7614104C3279839OMIM1774373091600855
HP:0000377HP:0000377Abnormality of the pinna2EBP CL E G H10682302960Chondrodysplasia punctata 2 X-linked dominant302960C0282102OMIM1912373133300205
HP:0000377HP:0000377Abnormality of the pinna2EFEMP2 CL E G H30008614437Autosomal recessive cutis laxa type 1B614437C3280798OMIM1171803219604633
HP:0000377HP:0000377Abnormality of the pinna2EHMT1 CL E G H79813610253Chromosome 9q deletion syndrome610253C0795833OMIM19474624650607001
HP:0000377HP:0000377Abnormality of the pinna2EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM11074153373602700
HP:0000377HP:0000377Abnormality of the pinna2ERCC6 CL E G H2074133540Cockayne syndrome B133540C0751038OMIM11404993438609413
HP:0000377HP:0000377Abnormality of the pinna2ERCC8 CL E G H1161216400Cockayne syndrome type A216400C0751039OMIM1701993439609412
HP:0000377HP:0000377Abnormality of the pinna2ETFA CL E G H2108231680Glutaric aciduria, type 2231680C0268596OMIM1301243481608053
HP:0000377HP:0000377Abnormality of the pinna2ETFB CL E G H2109231680Glutaric aciduria, type 2231680C0268596OMIM1151063482130410
HP:0000377HP:0000377Abnormality of the pinna2ETFDH CL E G H2110231680Glutaric aciduria, type 2231680C0268596OMIM11912563483231675
HP:0000377HP:0000377Abnormality of the pinna2FGFR2 CL E G H2263207410Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis207410C2936791OMIM11593363689176943
HP:0000377HP:0000377Abnormality of the pinna2FGFRL1 CL E G H538341941904p partial monosomy syndrome194190C1956097OMIM171993693605830
HP:0000377HP:0000377Abnormality of the pinna2FLNA CL E G H231690652ORPHA127114723754300017
HP:0000377HP:0000377Abnormality of the pinna2FRAS1 CL E G H80144219000Cryptophthalmos syndrome219000C0265233OMIM16167519185607830
HP:0000377HP:0000377Abnormality of the pinna2HMGB3 CL E G H3149300915Microphthalmia, syndromic 13300915C3806742OMIM111865004300193
HP:0000377HP:0000377Abnormality of the pinna2ICK CL E G H22858612651Endocrine-cerebroosteodysplasia612651C2675227OMIM1321219612325
HP:0000377HP:0000377Abnormality of the pinna2KIAA0586 CL E G H9786616546Short-rib thoracic dysplasia 14 with polydactyly616546C4225286OMIM13115519960610178
HP:0000377HP:0000377Abnormality of the pinna2LETM1 CL E G H39541941904p partial monosomy syndrome194190C1956097OMIM141756556604407
HP:0000377HP:0000377Abnormality of the pinna2LMNA CL E G H4000275210Lethal tight skin contracture syndrome275210C0406585OMIM157411526636150330
HP:0000377HP:0000377Abnormality of the pinna2MEOX1 CL E G H4222214300Klippel-Feil syndrome 2, autosomal recessive214300C1859209OMIM14397013600147
HP:0000377HP:0000377Abnormality of the pinna2NANS CL E G H54187610442Spondyloepimetaphyseal dysplasia Genevieve type610442C1864872OMIM1126119237605202
HP:0000377HP:0000377Abnormality of the pinna2NSD2 CL E G H74681941904p partial monosomy syndrome194190C1956097OMIM11422012766602952
HP:0000377HP:0000377Abnormality of the pinna2PLOD3 CL E G H8985612394Bone fragility with contractures, arterial rupture, and deafness612394C2676285OMIM13919083603066
HP:0000377HP:0000377Abnormality of the pinna2POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM1922259208124015
HP:0000377HP:0000377Abnormality of the pinna2POR CL E G H5447207410Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis207410C2936791OMIM1922259208124015
HP:0000377HP:0000377Abnormality of the pinna2PORCN CL E G H64840305600Focal dermal hypoplasia305600C0016395OMIM112121017652300651
HP:0000377HP:0000377Abnormality of the pinna2PSAT1 CL E G H29968616038Neu-laxova syndrome 2616038C4015019OMIM11032319129610936
HP:0000377HP:0000377Abnormality of the pinna2PTF1A CL E G H256297609069Diabetes mellitus, permanent neonatal, with cerebellar agenesis609069C1836780OMIM1166723734607194
HP:0000377HP:0000377Abnormality of the pinna2RAB23 CL E G H51715201000Carpenter syndrome 1201000C1275078OMIM11510514263606144
HP:0000377HP:0000377Abnormality of the pinna2RAC1 CL E G H5879617751MENTAL RETARDATION, AUTOSOMAL DOMINANT 48617751C4540321OMIM117699801602048
HP:0000377HP:0000377Abnormality of the pinna2RNU4ATAC CL E G H100151683210710Osteodysplastic primordial dwarfism, type 1210710C1859452OMIM1245634016601428
HP:0000377HP:0000377Abnormality of the pinna2RPS23 CL E G H6228617412MacInnes syndrome617412C4479431OMIM121310410603683
HP:0000377HP:0000377Abnormality of the pinna2SKI CL E G H6497182212Shprintzen-Goldberg syndrome182212C1321551OMIM12450210896164780
HP:0000377HP:0000377Abnormality of the pinna2SLC25A24 CL E G H29957612289Fontaine progeroid syndrome612289C2676780OMIM123520662608744
HP:0000377HP:0000377Abnormality of the pinna2SMARCD2 CL E G H6603617475Specific granule deficiency 2617475C4479548OMIM112411107601736
HP:0000377HP:0000377Abnormality of the pinna2SMG9 CL E G H56006616920Heart and brain malformation syndrome616920C4310793OMIM122925763613176
HP:0000377HP:0000377Abnormality of the pinna2SMS CL E G H6611309583Snyder Robinson syndrome309583C0796160OMIM11520611123300105
HP:0000377HP:0000377Abnormality of the pinna2TAB2 CL E G H23118228410ORPHA1335317075605101
HP:0000377HP:0000377Abnormality of the pinna2TBX15 CL E G H691393333ORPHA153811594604127
HP:0000377HP:0000377Abnormality of the pinna2TFAP2A CL E G H70201297ORPHA1448211742107580
HP:0000377HP:0000377Abnormality of the pinna2TGDS CL E G H23483616145Catel Manzke syndrome616145C1844887OMIM178120324616146
HP:0000377HP:0000377Abnormality of the pinna2TRAF7 CL E G H84231618164CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY618164OMIM156420456606692
HP:0000377HP:0000377Abnormality of the pinna2TWIST2 CL E G H117581209885Barber-Say syndrome209885C1319466OMIM198820670607556
HP:0000377HP:0000377Abnormality of the pinna2UBE3B CL E G H89910244450Kaufman oculocerebrofacial syndrome244450C1855663OMIM1255413478608047
HP:0000377HP:0000377Abnormality of the pinna2WAC CL E G H51322616708Desanto-shinawi syndrome616708C4225239OMIM1257717327615049
HP:0000377HP:0000377Abnormality of the pinna2WDR35 CL E G H57539613610Cranioectodermal dysplasia 2613610C3150874OMIM13129229250613602
HP:0000377HP:0000377Abnormality of the pinna2WFS1 CL E G H7466411590ORPHA139371412762606201
HP:0000377HP:0000377Abnormality of the pinna2WHCR CL E G H74671941904p partial monosomy syndrome194190C1956097OMIM1127640
HP:0000377HP:0000377Abnormality of the pinna2YY1 CL E G H7528617557GABRIELE-DE VRIES SYNDROME617557C4479652OMIM1235712856600013
HP:0000377HP:0000377Abnormality of the pinna2ZBTB18 CL E G H10472612337Mental retardation, autosomal dominant 22612337C2676727OMIM13213813030608433
HP:0000377HP:0000377Abnormality of the pinna2ZMPSTE24 CL E G H10269275210Lethal tight skin contracture syndrome275210C0406585OMIM13413612877606480
HP:0000377HP:0000377Abnormality of the pinna2ZNF148 CL E G H7707617260Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies617260C4310644OMIM144212933601897
HP:0000377HP:0000377Abnormality of the pinna3ACTG1 CL E G H71614583Baraitser-Winter Syndrome 2614583C3281235OMIM148261144102560
HP:0000377HP:0000377Abnormality of the pinna3ALG12 CL E G H79087607143ALG12-congenital disorder of glycosylation607143C2931001OMIM11626319358607144
HP:0000377HP:0000377Abnormality of the pinna3AMPD2 CL E G H271615809Pontocerebellar hypoplasia, type 9615809C4014354OMIM11898469102771
HP:0000377HP:0000377Abnormality of the pinna3ARID1A CL E G H8289614607Mental retardation, autosomal dominant 14614607C3553247OMIM13617511110603024
HP:0000377HP:0000377Abnormality of the pinna3ARID1B CL E G H57492251056ORPHA118857518040614556
HP:0000377HP:0000377Abnormality of the pinna3ATR CL E G H545210600Seckel syndrome 1210600CN033164OMIM134404882601215
HP:0000377HP:0000377Abnormality of the pinna3BRPF1 CL E G H7862617333Intellectual developmental disorder with dysmorphic facies and ptosis617333C4310617OMIM11811514255602410
HP:0000377HP:0000377Abnormality of the pinna3CCDC47 CL E G H57003618268618268618268OMIM1520248560
HP:0000377HP:0000377Abnormality of the pinna3CDK10 CL E G H8558617694AL KAISSI SYNDROME617694C4540156OMIM17691770603464
HP:0000377HP:0000377Abnormality of the pinna3COG7 CL E G H91949608779COG7 congenital disorder of glycosylation608779C2931010OMIM1515918622606978
HP:0000377HP:0000377Abnormality of the pinna3COL11A1 CL E G H1301228520Fibrochondrogenesis228520C0265282OMIM11065602186120280
HP:0000377HP:0000377Abnormality of the pinna3COLEC10 CL E G H10584248340Malpuech facial clefting syndrome248340C0796032OMIM14532220607620
HP:0000377HP:0000377Abnormality of the pinna3CPLX1 CL E G H108151941904p partial monosomy syndrome194190C1956097OMIM131432309605032
HP:0000377HP:0000377Abnormality of the pinna3CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM13647552348600140
HP:0000377HP:0000377Abnormality of the pinna3CTBP1 CL E G H14871941904p partial monosomy syndrome194190C1956097OMIM111642494602618
HP:0000377HP:0000377Abnormality of the pinna3CUL4B CL E G H8450300354Syndromic X-linked mental retardation, Cabezas type300354C1845861OMIM1402472555300304
HP:0000377HP:0000377Abnormality of the pinna3DOCK7 CL E G H85440615859Epileptic encephalopathy, early infantile, 23615859C4014492OMIM1744619190615730
HP:0000377HP:0000377Abnormality of the pinna3DYRK1A CL E G H1859614104Mental retardation, autosomal dominant 7614104C3279839OMIM1774373091600855
HP:0000377HP:0000377Abnormality of the pinna3EBP CL E G H10682302960Chondrodysplasia punctata 2 X-linked dominant302960C0282102OMIM1912373133300205
HP:0000377HP:0000377Abnormality of the pinna3EFEMP2 CL E G H30008614437Autosomal recessive cutis laxa type 1B614437C3280798OMIM1171803219604633
HP:0000377HP:0000377Abnormality of the pinna3EHMT1 CL E G H79813610253Chromosome 9q deletion syndrome610253C0795833OMIM19474624650607001
HP:0000377HP:0000377Abnormality of the pinna3EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM11074153373602700
HP:0000377HP:0000377Abnormality of the pinna3ERCC6 CL E G H2074133540Cockayne syndrome B133540C0751038OMIM11404993438609413
HP:0000377HP:0000377Abnormality of the pinna3ERCC8 CL E G H1161216400Cockayne syndrome type A216400C0751039OMIM1701993439609412
HP:0000377HP:0000377Abnormality of the pinna3ETFA CL E G H2108231680Glutaric aciduria, type 2231680C0268596OMIM1301243481608053
HP:0000377HP:0000377Abnormality of the pinna3ETFB CL E G H2109231680Glutaric aciduria, type 2231680C0268596OMIM1151063482130410
HP:0000377HP:0000377Abnormality of the pinna3ETFDH CL E G H2110231680Glutaric aciduria, type 2231680C0268596OMIM11912563483231675
HP:0000377HP:0000377Abnormality of the pinna3FGFR2 CL E G H2263207410Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis207410C2936791OMIM11593363689176943
HP:0000377HP:0000377Abnormality of the pinna3FGFRL1 CL E G H538341941904p partial monosomy syndrome194190C1956097OMIM171993693605830
HP:0000377HP:0000377Abnormality of the pinna3FLNA CL E G H231690652ORPHA127114723754300017
HP:0000377HP:0000377Abnormality of the pinna3FRAS1 CL E G H80144219000Cryptophthalmos syndrome219000C0265233OMIM16167519185607830
HP:0000377HP:0000377Abnormality of the pinna3HMGB3 CL E G H3149300915Microphthalmia, syndromic 13300915C3806742OMIM111865004300193
HP:0000377HP:0000377Abnormality of the pinna3ICK CL E G H22858612651Endocrine-cerebroosteodysplasia612651C2675227OMIM1321219612325
HP:0000377HP:0000377Abnormality of the pinna3KIAA0586 CL E G H9786616546Short-rib thoracic dysplasia 14 with polydactyly616546C4225286OMIM13115519960610178
HP:0000377HP:0000377Abnormality of the pinna3LETM1 CL E G H39541941904p partial monosomy syndrome194190C1956097OMIM141756556604407
HP:0000377HP:0000377Abnormality of the pinna3LMNA CL E G H4000275210Lethal tight skin contracture syndrome275210C0406585OMIM157411526636150330
HP:0000377HP:0000377Abnormality of the pinna3MEOX1 CL E G H4222214300Klippel-Feil syndrome 2, autosomal recessive214300C1859209OMIM14397013600147
HP:0000377HP:0000377Abnormality of the pinna3NANS CL E G H54187610442Spondyloepimetaphyseal dysplasia Genevieve type610442C1864872OMIM1126119237605202
HP:0000377HP:0000377Abnormality of the pinna3NSD2 CL E G H74681941904p partial monosomy syndrome194190C1956097OMIM11422012766602952
HP:0000377HP:0000377Abnormality of the pinna3PLOD3 CL E G H8985612394Bone fragility with contractures, arterial rupture, and deafness612394C2676285OMIM13919083603066
HP:0000377HP:0000377Abnormality of the pinna3POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM1922259208124015
HP:0000377HP:0000377Abnormality of the pinna3POR CL E G H5447207410Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis207410C2936791OMIM1922259208124015
HP:0000377HP:0000377Abnormality of the pinna3PORCN CL E G H64840305600Focal dermal hypoplasia305600C0016395OMIM112121017652300651
HP:0000377HP:0000377Abnormality of the pinna3PSAT1 CL E G H29968616038Neu-laxova syndrome 2616038C4015019OMIM11032319129610936
HP:0000377HP:0000377Abnormality of the pinna3PTF1A CL E G H256297609069Diabetes mellitus, permanent neonatal, with cerebellar agenesis609069C1836780OMIM1166723734607194
HP:0000377HP:0000377Abnormality of the pinna3RAB23 CL E G H51715201000Carpenter syndrome 1201000C1275078OMIM11510514263606144
HP:0000377HP:0000377Abnormality of the pinna3RAC1 CL E G H5879617751MENTAL RETARDATION, AUTOSOMAL DOMINANT 48617751C4540321OMIM117699801602048
HP:0000377HP:0000377Abnormality of the pinna3RNU4ATAC CL E G H100151683210710Osteodysplastic primordial dwarfism, type 1210710C1859452OMIM1245634016601428
HP:0000377HP:0000377Abnormality of the pinna3RPS23 CL E G H6228617412MacInnes syndrome617412C4479431OMIM121310410603683
HP:0000377HP:0000377Abnormality of the pinna3SKI CL E G H6497182212Shprintzen-Goldberg syndrome182212C1321551OMIM12450210896164780
HP:0000377HP:0000377Abnormality of the pinna3SLC25A24 CL E G H29957612289Fontaine progeroid syndrome612289C2676780OMIM123520662608744
HP:0000377HP:0000377Abnormality of the pinna3SMARCD2 CL E G H6603617475Specific granule deficiency 2617475C4479548OMIM112411107601736
HP:0000377HP:0000377Abnormality of the pinna3SMG9 CL E G H56006616920Heart and brain malformation syndrome616920C4310793OMIM122925763613176
HP:0000377HP:0000377Abnormality of the pinna3SMS CL E G H6611309583Snyder Robinson syndrome309583C0796160OMIM11520611123300105
HP:0000377HP:0000377Abnormality of the pinna3TAB2 CL E G H23118228410ORPHA1335317075605101
HP:0000377HP:0000377Abnormality of the pinna3TBX15 CL E G H691393333ORPHA153811594604127
HP:0000377HP:0000377Abnormality of the pinna3TFAP2A CL E G H70201297ORPHA1448211742107580
HP:0000377HP:0000377Abnormality of the pinna3TGDS CL E G H23483616145Catel Manzke syndrome616145C1844887OMIM178120324616146
HP:0000377HP:0000377Abnormality of the pinna3TRAF7 CL E G H84231618164CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY618164OMIM156420456606692
HP:0000377HP:0000377Abnormality of the pinna3TWIST2 CL E G H117581209885Barber-Say syndrome209885C1319466OMIM198820670607556
HP:0000377HP:0000377Abnormality of the pinna3UBE3B CL E G H89910244450Kaufman oculocerebrofacial syndrome244450C1855663OMIM1255413478608047
HP:0000377HP:0000377Abnormality of the pinna3WAC CL E G H51322616708Desanto-shinawi syndrome616708C4225239OMIM1257717327615049
HP:0000377HP:0000377Abnormality of the pinna3WDR35 CL E G H57539613610Cranioectodermal dysplasia 2613610C3150874OMIM13129229250613602
HP:0000377HP:0000377Abnormality of the pinna3WFS1 CL E G H7466411590ORPHA139371412762606201
HP:0000377HP:0000377Abnormality of the pinna3WHCR CL E G H74671941904p partial monosomy syndrome194190C1956097OMIM1127640
HP:0000377HP:0000377Abnormality of the pinna3YY1 CL E G H7528617557GABRIELE-DE VRIES SYNDROME617557C4479652OMIM1235712856600013
HP:0000377HP:0000377Abnormality of the pinna3ZBTB18 CL E G H10472612337Mental retardation, autosomal dominant 22612337C2676727OMIM13213813030608433
HP:0000377HP:0000377Abnormality of the pinna3ZMPSTE24 CL E G H10269275210Lethal tight skin contracture syndrome275210C0406585OMIM13413612877606480
HP:0000377HP:0000377Abnormality of the pinna3ZNF148 CL E G H7707617260Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies617260C4310644OMIM144212933601897
HP:0000377HP:0000377Abnormality of the pinna4ACTG1 CL E G H71614583Baraitser-Winter Syndrome 2614583C3281235OMIM148261144102560
HP:0000377HP:0000377Abnormality of the pinna4ALG12 CL E G H79087607143ALG12-congenital disorder of glycosylation607143C2931001OMIM11626319358607144
HP:0000377HP:0000377Abnormality of the pinna4AMPD2 CL E G H271615809Pontocerebellar hypoplasia, type 9615809C4014354OMIM11898469102771
HP:0000377HP:0000377Abnormality of the pinna4ARID1A CL E G H8289614607Mental retardation, autosomal dominant 14614607C3553247OMIM13617511110603024
HP:0000377HP:0000377Abnormality of the pinna4ARID1B CL E G H57492251056ORPHA118857518040614556
HP:0000377HP:0000377Abnormality of the pinna4ATR CL E G H545210600Seckel syndrome 1210600CN033164OMIM134404882601215
HP:0000377HP:0000377Abnormality of the pinna4BRPF1 CL E G H7862617333Intellectual developmental disorder with dysmorphic facies and ptosis617333C4310617OMIM11811514255602410
HP:0000377HP:0000377Abnormality of the pinna4CCDC47 CL E G H57003618268618268618268OMIM1520248560
HP:0000377HP:0000377Abnormality of the pinna4CDK10 CL E G H8558617694AL KAISSI SYNDROME617694C4540156OMIM17691770603464
HP:0000377HP:0000377Abnormality of the pinna4COG7 CL E G H91949608779COG7 congenital disorder of glycosylation608779C2931010OMIM1515918622606978
HP:0000377HP:0000377Abnormality of the pinna4COL11A1 CL E G H1301228520Fibrochondrogenesis228520C0265282OMIM11065602186120280
HP:0000377HP:0000377Abnormality of the pinna4COLEC10 CL E G H10584248340Malpuech facial clefting syndrome248340C0796032OMIM14532220607620
HP:0000377HP:0000377Abnormality of the pinna4CPLX1 CL E G H108151941904p partial monosomy syndrome194190C1956097OMIM131432309605032
HP:0000377HP:0000377Abnormality of the pinna4CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM13647552348600140
HP:0000377HP:0000377Abnormality of the pinna4CTBP1 CL E G H14871941904p partial monosomy syndrome194190C1956097OMIM111642494602618
HP:0000377HP:0000377Abnormality of the pinna4CUL4B CL E G H8450300354Syndromic X-linked mental retardation, Cabezas type300354C1845861OMIM1402472555300304
HP:0000377HP:0000377Abnormality of the pinna4DOCK7 CL E G H85440615859Epileptic encephalopathy, early infantile, 23615859C4014492OMIM1744619190615730
HP:0000377HP:0000377Abnormality of the pinna4DYRK1A CL E G H1859614104Mental retardation, autosomal dominant 7614104C3279839OMIM1774373091600855
HP:0000377HP:0000377Abnormality of the pinna4EBP CL E G H10682302960Chondrodysplasia punctata 2 X-linked dominant302960C0282102OMIM1912373133300205
HP:0000377HP:0000377Abnormality of the pinna4EFEMP2 CL E G H30008614437Autosomal recessive cutis laxa type 1B614437C3280798OMIM1171803219604633
HP:0000377HP:0000377Abnormality of the pinna4EHMT1 CL E G H79813610253Chromosome 9q deletion syndrome610253C0795833OMIM19474624650607001
HP:0000377HP:0000377Abnormality of the pinna4EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM11074153373602700
HP:0000377HP:0000377Abnormality of the pinna4ERCC6 CL E G H2074133540Cockayne syndrome B133540C0751038OMIM11404993438609413
HP:0000377HP:0000377Abnormality of the pinna4ERCC8 CL E G H1161216400Cockayne syndrome type A216400C0751039OMIM1701993439609412
HP:0000377HP:0000377Abnormality of the pinna4ETFA CL E G H2108231680Glutaric aciduria, type 2231680C0268596OMIM1301243481608053
HP:0000377HP:0000377Abnormality of the pinna4ETFB CL E G H2109231680Glutaric aciduria, type 2231680C0268596OMIM1151063482130410
HP:0000377HP:0000377Abnormality of the pinna4ETFDH CL E G H2110231680Glutaric aciduria, type 2231680C0268596OMIM11912563483231675
HP:0000377HP:0000377Abnormality of the pinna4FGFR2 CL E G H2263207410Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis207410C2936791OMIM11593363689176943
HP:0000377HP:0000377Abnormality of the pinna4FGFRL1 CL E G H538341941904p partial monosomy syndrome194190C1956097OMIM171993693605830
HP:0000377HP:0000377Abnormality of the pinna4FLNA CL E G H231690652ORPHA127114723754300017
HP:0000377HP:0000377Abnormality of the pinna4FRAS1 CL E G H80144219000Cryptophthalmos syndrome219000C0265233OMIM16167519185607830
HP:0000377HP:0000377Abnormality of the pinna4HMGB3 CL E G H3149300915Microphthalmia, syndromic 13300915C3806742OMIM111865004300193
HP:0000377HP:0000377Abnormality of the pinna4ICK CL E G H22858612651Endocrine-cerebroosteodysplasia612651C2675227OMIM1321219612325
HP:0000377HP:0000377Abnormality of the pinna4KIAA0586 CL E G H9786616546Short-rib thoracic dysplasia 14 with polydactyly616546C4225286OMIM13115519960610178
HP:0000377HP:0000377Abnormality of the pinna4LETM1 CL E G H39541941904p partial monosomy syndrome194190C1956097OMIM141756556604407
HP:0000377HP:0000377Abnormality of the pinna4LMNA CL E G H4000275210Lethal tight skin contracture syndrome275210C0406585OMIM157411526636150330
HP:0000377HP:0000377Abnormality of the pinna4MEOX1 CL E G H4222214300Klippel-Feil syndrome 2, autosomal recessive214300C1859209OMIM14397013600147
HP:0000377HP:0000377Abnormality of the pinna4NANS CL E G H54187610442Spondyloepimetaphyseal dysplasia Genevieve type610442C1864872OMIM1126119237605202
HP:0000377HP:0000377Abnormality of the pinna4NSD2 CL E G H74681941904p partial monosomy syndrome194190C1956097OMIM11422012766602952
HP:0000377HP:0000377Abnormality of the pinna4PLOD3 CL E G H8985612394Bone fragility with contractures, arterial rupture, and deafness612394C2676285OMIM13919083603066
HP:0000377HP:0000377Abnormality of the pinna4POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM1922259208124015
HP:0000377HP:0000377Abnormality of the pinna4POR CL E G H5447207410Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis207410C2936791OMIM1922259208124015
HP:0000377HP:0000377Abnormality of the pinna4PORCN CL E G H64840305600Focal dermal hypoplasia305600C0016395OMIM112121017652300651
HP:0000377HP:0000377Abnormality of the pinna4PSAT1 CL E G H29968616038Neu-laxova syndrome 2616038C4015019OMIM11032319129610936
HP:0000377HP:0000377Abnormality of the pinna4PTF1A CL E G H256297609069Diabetes mellitus, permanent neonatal, with cerebellar agenesis609069C1836780OMIM1166723734607194
HP:0000377HP:0000377Abnormality of the pinna4RAB23 CL E G H51715201000Carpenter syndrome 1201000C1275078OMIM11510514263606144
HP:0000377HP:0000377Abnormality of the pinna4RAC1 CL E G H5879617751MENTAL RETARDATION, AUTOSOMAL DOMINANT 48617751C4540321OMIM117699801602048
HP:0000377HP:0000377Abnormality of the pinna4RNU4ATAC CL E G H100151683210710Osteodysplastic primordial dwarfism, type 1210710C1859452OMIM1245634016601428
HP:0000377HP:0000377Abnormality of the pinna4RPS23 CL E G H6228617412MacInnes syndrome617412C4479431OMIM121310410603683
HP:0000377HP:0000377Abnormality of the pinna4SKI CL E G H6497182212Shprintzen-Goldberg syndrome182212C1321551OMIM12450210896164780
HP:0000377HP:0000377Abnormality of the pinna4SLC25A24 CL E G H29957612289Fontaine progeroid syndrome612289C2676780OMIM123520662608744
HP:0000377HP:0000377Abnormality of the pinna4SMARCD2 CL E G H6603617475Specific granule deficiency 2617475C4479548OMIM112411107601736
HP:0000377HP:0000377Abnormality of the pinna4SMG9 CL E G H56006616920Heart and brain malformation syndrome616920C4310793OMIM122925763613176
HP:0000377HP:0000377Abnormality of the pinna4SMS CL E G H6611309583Snyder Robinson syndrome309583C0796160OMIM11520611123300105
HP:0000377HP:0000377Abnormality of the pinna4TAB2 CL E G H23118228410ORPHA1335317075605101
HP:0000377HP:0000377Abnormality of the pinna4TBX15 CL E G H691393333ORPHA153811594604127
HP:0000377HP:0000377Abnormality of the pinna4TFAP2A CL E G H70201297ORPHA1448211742107580
HP:0000377HP:0000377Abnormality of the pinna4TGDS CL E G H23483616145Catel Manzke syndrome616145C1844887OMIM178120324616146
HP:0000377HP:0000377Abnormality of the pinna4TRAF7 CL E G H84231618164CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY618164OMIM156420456606692
HP:0000377HP:0000377Abnormality of the pinna4TWIST2 CL E G H117581209885Barber-Say syndrome209885C1319466OMIM198820670607556
HP:0000377HP:0000377Abnormality of the pinna4UBE3B CL E G H89910244450Kaufman oculocerebrofacial syndrome244450C1855663OMIM1255413478608047
HP:0000377HP:0000377Abnormality of the pinna4WAC CL E G H51322616708Desanto-shinawi syndrome616708C4225239OMIM1257717327615049
HP:0000377HP:0000377Abnormality of the pinna4WDR35 CL E G H57539613610Cranioectodermal dysplasia 2613610C3150874OMIM13129229250613602
HP:0000377HP:0000377Abnormality of the pinna4WFS1 CL E G H7466411590ORPHA139371412762606201
HP:0000377HP:0000377Abnormality of the pinna4WHCR CL E G H74671941904p partial monosomy syndrome194190C1956097OMIM1127640
HP:0000377HP:0000377Abnormality of the pinna4YY1 CL E G H7528617557GABRIELE-DE VRIES SYNDROME617557C4479652OMIM1235712856600013
HP:0000377HP:0000377Abnormality of the pinna4ZBTB18 CL E G H10472612337Mental retardation, autosomal dominant 22612337C2676727OMIM13213813030608433
HP:0000377HP:0000377Abnormality of the pinna4ZMPSTE24 CL E G H10269275210Lethal tight skin contracture syndrome275210C0406585OMIM13413612877606480
HP:0000377HP:0000377Abnormality of the pinna4ZNF148 CL E G H7707617260Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies617260C4310644OMIM144212933601897
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000377HP:0000377Abnormality of the pinna0CCNQ CL E G H92002300707STAR syndrome300707C2678045OMIM01122828434300708
HP:0000377HP:0000377Abnormality of the pinna0CHRNA7 CL E G H113961200115q13.3 microdeletion syndrome612001C2677613OMIM0573031960118511
HP:0000377HP:0000377Abnormality of the pinna0GJA1 CL E G H2697164200Oculodentodigital dysplasia164200C0812437OMIM01091414274121014
HP:0000377HP:0000377Abnormality of the pinna0HYLS1 CL E G H219844236680Hydrolethalus syndrome 1236680C1856016OMIM0212226558610693
HP:0000377HP:0000377Abnormality of the pinna0KIF7 CL E G H374654200990Acrocallosal syndrome, Schinzel type200990C0796147OMIM04538630497611254
HP:0000377HP:0000377Abnormality of the pinna0KLF13 CL E G H5162161200115q13.3 microdeletion syndrome612001C2677613OMIM0121213672605328
HP:0000377HP:0000377Abnormality of the pinna0MAP3K7 CL E G H6885617137Frontometaphyseal dysplasia 2617137C4310697OMIM013646859602614
HP:0000377HP:0000377Abnormality of the pinna0TWIST2 CL E G H1175811231ORPHA098820670607556
HP:0000377HP:0000377Abnormality of the pinna1CCNQ CL E G H92002300707STAR syndrome300707C2678045OMIM01122828434300708
HP:0000377HP:0000377Abnormality of the pinna1CHRNA7 CL E G H113961200115q13.3 microdeletion syndrome612001C2677613OMIM0573031960118511
HP:0000377HP:0000377Abnormality of the pinna1GJA1 CL E G H2697164200Oculodentodigital dysplasia164200C0812437OMIM01091414274121014
HP:0000377HP:0000377Abnormality of the pinna1HYLS1 CL E G H219844236680Hydrolethalus syndrome 1236680C1856016OMIM0212226558610693
HP:0000377HP:0000377Abnormality of the pinna1KIF7 CL E G H374654200990Acrocallosal syndrome, Schinzel type200990C0796147OMIM04538630497611254
HP:0000377HP:0000377Abnormality of the pinna1KLF13 CL E G H5162161200115q13.3 microdeletion syndrome612001C2677613OMIM0121213672605328
HP:0000377HP:0000377Abnormality of the pinna1MAP3K7 CL E G H6885617137Frontometaphyseal dysplasia 2617137C4310697OMIM013646859602614
HP:0000377HP:0000377Abnormality of the pinna1TWIST2 CL E G H1175811231ORPHA098820670607556
HP:0000377HP:0000377Abnormality of the pinna2CCNQ CL E G H92002300707STAR syndrome300707C2678045OMIM01122828434300708
HP:0000377HP:0000377Abnormality of the pinna2CHRNA7 CL E G H113961200115q13.3 microdeletion syndrome612001C2677613OMIM0573031960118511
HP:0000377HP:0000377Abnormality of the pinna2GJA1 CL E G H2697164200Oculodentodigital dysplasia164200C0812437OMIM01091414274121014
HP:0000377HP:0000377Abnormality of the pinna2HYLS1 CL E G H219844236680Hydrolethalus syndrome 1236680C1856016OMIM0212226558610693
HP:0000377HP:0000377Abnormality of the pinna2KIF7 CL E G H374654200990Acrocallosal syndrome, Schinzel type200990C0796147OMIM04538630497611254
HP:0000377HP:0000377Abnormality of the pinna2KLF13 CL E G H5162161200115q13.3 microdeletion syndrome612001C2677613OMIM0121213672605328
HP:0000377HP:0000377Abnormality of the pinna2MAP3K7 CL E G H6885617137Frontometaphyseal dysplasia 2617137C4310697OMIM013646859602614
HP:0000377HP:0000377Abnormality of the pinna2TWIST2 CL E G H1175811231ORPHA098820670607556
HP:0000377HP:0000377Abnormality of the pinna3CCNQ CL E G H92002300707STAR syndrome300707C2678045OMIM01122828434300708
HP:0000377HP:0000377Abnormality of the pinna3CHRNA7 CL E G H113961200115q13.3 microdeletion syndrome612001C2677613OMIM0573031960118511
HP:0000377HP:0000377Abnormality of the pinna3GJA1 CL E G H2697164200Oculodentodigital dysplasia164200C0812437OMIM01091414274121014
HP:0000377HP:0000377Abnormality of the pinna3HYLS1 CL E G H219844236680Hydrolethalus syndrome 1236680C1856016OMIM0212226558610693
HP:0000377HP:0000377Abnormality of the pinna3KIF7 CL E G H374654200990Acrocallosal syndrome, Schinzel type200990C0796147OMIM04538630497611254
HP:0000377HP:0000377Abnormality of the pinna3KLF13 CL E G H5162161200115q13.3 microdeletion syndrome612001C2677613OMIM0121213672605328
HP:0000377HP:0000377Abnormality of the pinna3MAP3K7 CL E G H6885617137Frontometaphyseal dysplasia 2617137C4310697OMIM013646859602614
HP:0000377HP:0000377Abnormality of the pinna3TWIST2 CL E G H1175811231ORPHA098820670607556
HP:0000377HP:0000377Abnormality of the pinna4CCNQ CL E G H92002300707STAR syndrome300707C2678045OMIM01122828434300708
HP:0000377HP:0000377Abnormality of the pinna4CHRNA7 CL E G H113961200115q13.3 microdeletion syndrome612001C2677613OMIM0573031960118511
HP:0000377HP:0000377Abnormality of the pinna4GJA1 CL E G H2697164200Oculodentodigital dysplasia164200C0812437OMIM01091414274121014
HP:0000377HP:0000377Abnormality of the pinna4HYLS1 CL E G H219844236680Hydrolethalus syndrome 1236680C1856016OMIM0212226558610693
HP:0000377HP:0000377Abnormality of the pinna4KIF7 CL E G H374654200990Acrocallosal syndrome, Schinzel type200990C0796147OMIM04538630497611254
HP:0000377HP:0000377Abnormality of the pinna4KLF13 CL E G H5162161200115q13.3 microdeletion syndrome612001C2677613OMIM0121213672605328
HP:0000377HP:0000377Abnormality of the pinna4MAP3K7 CL E G H6885617137Frontometaphyseal dysplasia 2617137C4310697OMIM013646859602614
HP:0000377HP:0000377Abnormality of the pinna4TWIST2 CL E G H1175811231ORPHA098820670607556


Genes (540) :A2ML1 ABCA12 ABCC8 ABHD5 ACTB ACTG1 ADAMTSL1 ADAMTSL2 AGA AGPAT2 AHDC1 AHSG AIP AKT1 ALDH18A1 ALG12 ALG3 ALG9 ALOX12B ALOXE3 AMER1 AMPD2 ANKRD11 ANTXR1 AP1S2 AP3D1 AP4E1 APC APC2 ARID1A ARID1B ARVCF ARX ASNS ATP6V1A ATP6V1B2 ATR ATRIP ATRX B3GALNT2 B3GAT3 B3GLCT B4GALT7 B4GAT1 BAZ1B BCL11A BCOR BCR BHLHA9 BIN1 BLM BMP1 BMP2 BMP4 BPTF BRAF BRPF1 BRWD3 BSCL2 C12ORF57 CAMTA1 CASK CBL CCDC47 CCDC8 CCNQ CD96 CDC45 CDC6 CDH11 CDK10 CDKL5 CDKN1C CDT1 CENPE CENPJ CEP120 CEP152 CHD4 CHD7 CHRNA1 CHRNA7 CHST14 CHST3 CIT CLCF1 CLIC2 CLIP2 COG1 COG7 COL11A1 COL1A1 COL3A1 COL4A1 COL5A1 COL5A2 COL6A1 COL6A2 COL6A3 COLEC10 COLEC11 COMT COX1 COX2 COX3 COX7B CPLX1 CPT2 CREBBP CRKL CRPPA CSPP1 CTBP1 CTU2 CUL4B CUL7 CWC27 CXORF56 CYP4F22 DACT1 DAG1 DCAF17 DCHS1 DDX11 DHCR24 DHODH DIS3L2 DLX4 DNAJC21 DOCK6 DOCK7 DPF2 DPP6 DPYD DSE DYRK1A DZIP1L EBF3 EBP ECE1 EDN1 EDNRA EED EFEMP2 EFTUD2 EHMT1 EIF2S3 EIF4A3 ELN EP300 ERCC2 ERCC6 ERCC8 ERF ESCO2 ETFA ETFB ETFDH EVC EVC2 EXT1 EYA1 EZH2 FAM20C FANCB FANCL FAR1 FAT4 FBN1 FBN2 FBXL4 FBXO11 FGD1 FGF10 FGF3 FGFR1 FGFR2 FGFR3 FGFRL1 FIBP FIG4 FKRP FKTN FLI1 FLNA FMR1 FOXG1 FOXL2 FRAS1 FRMD4A FTSJ1 GABBR2 GABRD GATA1 GBA GJA1 GJB3 GJB4 GLI2 GLI3 GMNN GNAI3 GNB1 GP1BB GPC3 GPC4 GPR101 GTF2I GTF2IRD1 GTPBP2 H19 H19-ICR HBA1 HBA2 HCCS HDAC8 HECW2 HERC1 HHAT HIRA HMGB3 HNRNPK HOXA13 HOXA2 HRAS HSPA9 HSPG2 HYLS1 HYMAI ICK IGBP1 IGF2 IL1RAPL1 INSR INTU ITGA3 ITGB6 JAG1 JMJD1C KANSL1 KAT6B KCNAB2 KCNH1 KCNJ1 KCNJ11 KCNQ1 KCNQ1OT1 KCTD1 KDM5C KDM6A KDSR KIAA0586 KIF11 KIF1A KIF1BP KIF7 KLF13 KMT2A KMT2D KRAS LAGE3 LARGE1 LAS1L LETM1 LGI4 LIG4 LIMK1 LIPN LMBRD1 LMNA LONP1 LRP4 LZTR1 MAF MAN2B1 MAP2K1 MAP2K2 MAP3K7 MAPK1 MAPRE2 MASP1 MBD5 MBTPS2 MCM5 MECP2 MED12 MED13L MEGF8 MEOX1 MGAT2 MGP MID2 MLXIPL MMACHC MPLKIP MSX2 MYH3 NAA10 NALCN NANS NBN ND1 ND4 ND5 ND6 NDE1 NDP NDUFB11 NECTIN1 NEK1 NELFA NF1 NFIX NHS NIN NIPAL4 NIPBL NOTCH2 NRAS NSD1 NSD2 NSUN2 NTNG1 NUP107 OBSL1 OCRL OPHN1 ORC1 ORC4 ORC6 OSGEP OTUD6B PACS1 PAH PAK3 PAM16 PAX1 PBX1 PCLO PCNT PEX1 PEX2 PEX5 PGAP1 PHF6 PHGDH PHIP PIEZO1 PIEZO2 PIGA PIGL PIGN PIGS PIGY PIK3CA PIK3R1 PKHD1 PLAGL1 PLCB4 PLEC PLK4 PLOD3 PMM2 PNPLA6 POC1A POLR1A POLR1C POLR1D POLR3A POMGNT1 POMGNT2 POMK POMT1 POMT2 POR PORCN PPP1CB PPP1R15B PQBP1 PRDM16 PRDX1 PRUNE1 PSAT1 PSMB8 PSMD12 PTCH1 PTDSS1 PTEN PTF1A PTPN11 PTPRF PUF60 PYCR1 QRICH1 RAB18 RAB23 RAB3GAP1 RAB3GAP2 RAC1 RAD21 RAF1 RAP1A RAP1B RASA2 RB1 RBBP8 RBM10 RBMX RERE RFC2 RIPK4 RIT1 RMRP RNU4ATAC RPL10 RPS23 RPS26 RPS28 RPS6KA3 RRAS RREB1 RSPO2 RSPRY1 RXYLT1 RYR1 SALL1 SCARF2 SDR9C7 SEC24C SEMA3E SET SETBP1 SETD2 SETD5 SF3B4 SH3PXD2B SHANK3 SHOC2 SIM1 SIN3A SIX1 SKI SLC12A6 SLC16A2 SLC25A24 SLC26A2 SLC2A10 SLC6A17 SLC6A8 SLC9A6 SMAD4 SMARCD2 SMC1A SMC3 SMG9 SMOC1 SMS SNAP29 SON SOS1 SOS2 SPECC1L SPEG SSR4 STXBP1 SULT2B1 SUZ12 TAB2 TAF1 TAPT1 TAZ TBC1D20 TBL1XR1 TBL2 TBX1 TBX15 TBX2 TBX22 TBX4 TCF4 TCOF1 TCTN3 TFAP2A TFAP2B TGDS TGM1 TNNI2 TNNT3 TOE1 TP53RK TP63 TPM2 TPRKB TRAF7 TRAIP TRAPPC9 TRIO TRNF TRNH TRNL1 TRNQ TRNS1 TRNS2 TRNW TRPS1 TSR2 TTC37 TTI2 TTN TUBGCP4 TUBGCP6 TWIST1 TWIST2 TXNL4A UBA1 UBE3B UFD1 UPF3B VPS13B WAC WDR19 WDR35 WDR4 WDR73 WFS1 WHCR WNT3 WNT4 WNT7A XYLT2 YME1L1 YY1 ZBTB18 ZBTB20 ZDHHC9 ZEB2 ZIC2 ZMPSTE24 ZNF148 ZNHIT3

Diseases (511) :614583 607143 615809 614607 251056 210600 617333 618268 300707 617694 612001 608779 228520 248340 194190 180849 300354 615859 614104 302960 614437 610253 133540 216400 231680 207410 90652 219000 164200 300915 236680 612651 616546 200990 275210 617137 214300 610442 612394 201750 305600 616038 609069 201000 617751 210710 617412 182212 612289 617475 616920 309583 228410 93333 1297 616145 618164 1231 209885 244450 616708 613610 411590 617557 612337 617260 313 79134 275630 521445 93 608594 2850 963 744 616603 219150 601110 300373 2332 261250 148050 230740 85335 85329 617050 3258 821 2508 300004 615574 617403 3473 301040 309580 899 245600 261540 904 617101 300166 261330 169186 125 210900 614856 261295 607932 529962 1340 300659 269700 218340 314647 614756 163937 300749 613563 2616 614205 140952 1308 617063 613805 3095 613804 616300 617159 138 214800 608930 199318 601776 143095 617090 610313 300886 611209 287 286 130000 254090 550 614643 618142 85293 250410 301013 857 617466 3464 241080 601390 613398 602398 263750 246 616788 617052 614219 618027 2514 293948 615539 731 613870 137888 615706 612798 616367 3447 617561 79113 610536 268305 601675 3267 952 502 602588 2792 113650 277590 259775 614083 616154 616006 615546 284979 2462 115 121050 615471 618089 149730 90024 2645 794 1555 101400 617107 236670 300321 309350 908 300624 261144 110100 616819 309549 1606 190685 608013 317 610829 672 146510 174700 616835 602483 373 617988 3459 199 617268 617011 1422 616580 2438 612290 616854 96191 52055 300472 508 246200 617925 614748 118450 610443 3047 241200 2036 181270 85279 300534 2322 147920 300867 2526 152950 2836 66629 2065 309585 280 617468 235 277380 740 1458 600373 601088 248500 638 616734 156200 85284 2273 617564 778 300260 300055 776 616789 614976 212066 245150 300928 277400 234050 168550 1147 276432 300855 615419 647 251260 605013 649 3253 2751 627 302350 614851 612921 534 137831 300486 224690 613800 613803 505237 617452 615009 300558 613320 617641 608027 210720 214100 614866 214110 615802 301900 2671 256520 617991 616843 1154 108145 280633 614080 276280 269880 612138 2518 212065 2377 614813 616462 861 248390 613717 2701 616817 93947 93946 309500 617481 2615 256040 77301 610828 2658 151050 109 151100 508488 612940 617982 2510 614222 1387 600118 614225 1587 311900 300238 263650 175 2636 435938 300998 613309 606164 303600 192 3301 616723 107480 600920 618106 798 245 1788 137834 249420 48652 606232 171829 94065 613406 218000 59 300523 222600 3342 616269 85278 300243 139210 66631 500150 1519 370927 300934 300966 302060 618223 302905 921 261279 610954 154500 113620 169100 614969 69085 1071 604292 616777 617061 77258 190350 190351 300946 222470 615541 617746 920 608572 1145 614378 251300 247768 2879 276820 85194 617302 3042 259050 300799 235730 609637 648 231050 615829 263210 613744 709 115150 613706 2554 1299 130650 293843 2556 35107 2849 85282 194050 613684 193530 3412 305400 610706 2308 257850 312870 98791 3071 300143 305450 309520 122470 102500 2209 2637 127 618143 616809 602501 617506 212720 628 1106 616897 602342 1727 260660 2896 2753 352530 200110 193 98907 243310 567 808 130070 309800 3329 130050 608836 397715 617330 3103 268300 216340 488613 800 255800 602535 300868 280000 614669 264090 616001 313855 300352
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is June 2019 release.