Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the outer ear (HP:0000356)help
Parent Node:
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Abnormal location of ears (HP:0000357)help
..Starting node
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Posteriorly rotated ears (HP:0000358)help
Term ID: 358
Name: Posteriorly rotated ears
Synonym: Ear, posterior angulation, increased; Ears rotated toward back of head; Posteriorly angulated ears; Posteriorly rotated; Posteriorly rotated auricles; Posteriorly-angulated ears; Posteriorly-rotated ears
Definition: A type of abnormal location of the ears in which the position of the ears is characterized by posterior rotation (the superior part of the ears is rotated towards the back of the head, and the inferior part of the ears towards the front).
Comments:
Reference: HP:0000358
Genes and Diseases:
 
       Child Nodes:
........expandLow-set, posteriorly rotated ears (HP:0000368) help

 Sister Nodes: 
..expandAnteverted ears (HP:0040080) help
..expandAsymmetry of the ears (HP:0010722) help
..expandLow-set ears (HP:0000369) help
..expandSuperiorly displaced ears (HP:0008541) help
..expandSynotia (HP:0100663) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0000358HP:0000358Posteriorly rotated ears0ADAMTS18 CL E G H170692615458Microcornea, myopic chorioretinal atrophy, and telecanthus615458C3809567OMIM11719717110607512
HP:0000358HP:0000358Posteriorly rotated ears0AMER1 CL E G H139285300373Osteopathia striata with cranial sclerosis300373C0432268OMIM14121926837300647
HP:0000358HP:0000358Posteriorly rotated ears0AP3B1 CL E G H8546608233Hermansky Pudlak syndrome 2608233C1842362OMIM135238566603401
HP:0000358HP:0000358Posteriorly rotated ears0ARID1B CL E G H57492135900Coffin-Siris syndrome 1135900C3281201OMIM118857518040614556
HP:0000358HP:0000358Posteriorly rotated ears0ASCL1 CL E G H429209880Congenital central hypoventilation209880C1275808OMIM1630738100790
HP:0000358HP:0000358Posteriorly rotated ears0ASXL1 CL E G H171023605039C-like syndrome605039C0796232OMIM14119918318612990
HP:0000358HP:0000358Posteriorly rotated ears0ASXL2 CL E G H55252617190Shashi-Pena syndrome617190C4310672OMIM168123805612991
HP:0000358HP:0000358Posteriorly rotated ears0ATRX CL E G H546301040ATR-X syndrome301040C1845055OMIM1170663886300032
HP:0000358HP:0000358Posteriorly rotated ears0ATRX CL E G H546309580Mental retardation-hypotonic facies syndrome X-linked, 1309580C0796003OMIM1170663886300032
HP:0000358HP:0000358Posteriorly rotated ears0BCOR CL E G H54880300166Oculofaciocardiodental syndrome300166C1846265OMIM15541520893300485
HP:0000358HP:0000358Posteriorly rotated ears0BMP2 CL E G H650617877SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES617877CN807949OMIM137691069112261
HP:0000358HP:0000358Posteriorly rotated ears0BRAF CL E G H673115150Cardiofaciocutaneous syndrome 1115150CN029449OMIM1684901097164757
HP:0000358HP:0000358Posteriorly rotated ears0BRAF CL E G H673613707LEOPARD syndrome 3613707C3150971OMIM1684901097164757
HP:0000358HP:0000358Posteriorly rotated ears0BUB1B CL E G H701257300Mosaic variegated aneuploidy syndrome 1257300CN031748OMIM1293231149602860
HP:0000358HP:0000358Posteriorly rotated ears0CBL CL E G H867613563Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia613563C3150803OMIM1436101541165360
HP:0000358HP:0000358Posteriorly rotated ears0CCNK CL E G H8812618147INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPERTELORISM AND DISTINCTIVE FACIES618147OMIM1321596603544
HP:0000358HP:0000358Posteriorly rotated ears0CD96 CL E G H10225211750C syndrome211750C0796095OMIM134716892606037
HP:0000358HP:0000358Posteriorly rotated ears0CDC42 CL E G H998616737Takenouchi-Kosaki syndrome616737C4225222OMIM111331736116952
HP:0000358HP:0000358Posteriorly rotated ears0CDC45 CL E G H83182554ORPHA1193981739603465
HP:0000358HP:0000358Posteriorly rotated ears0CDC6 CL E G H9902554ORPHA14581744602627
HP:0000358HP:0000358Posteriorly rotated ears0CDH11 CL E G H1009211380Brachioskeletogenital syndrome211380C0809936OMIM110401750600023
HP:0000358HP:0000358Posteriorly rotated ears0CDK13 CL E G H8621617360Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder617360C4479246OMIM1221251733603309
HP:0000358HP:0000358Posteriorly rotated ears0CDT1 CL E G H816202554ORPHA11215824576605525
HP:0000358HP:0000358Posteriorly rotated ears0CHST14 CL E G H113189601776Ehlers-Danlos syndrome, musculocontractural type601776C1866294OMIM1229624464608429
HP:0000358HP:0000358Posteriorly rotated ears0CPLANE1 CL E G H65250277170Orofaciodigital syndrome 6277170C2745997OMIM111859425801614571
HP:0000358HP:0000358Posteriorly rotated ears0CPT2 CL E G H1376608836Carnitine palmitoyltransferase II deficiency, lethal neonatal608836C1833518OMIM11133662330600650
HP:0000358HP:0000358Posteriorly rotated ears0DHCR7 CL E G H1717270400Smith-Lemli-Opitz syndrome270400C0175694OMIM12183762860602858
HP:0000358HP:0000358Posteriorly rotated ears0DIS3L2 CL E G H1295632849ORPHA11488128648614184
HP:0000358HP:0000358Posteriorly rotated ears0DOK7 CL E G H285489994ORPHA17545826594610285
HP:0000358HP:0000358Posteriorly rotated ears0DOK7 CL E G H285489208150Pena-Shokeir syndrome type I208150C1276035OMIM17545826594610285
HP:0000358HP:0000358Posteriorly rotated ears0DPF2 CL E G H5977618027COFFIN-SIRIS SYNDROME 7618027CN248780OMIM19149964601671
HP:0000358HP:0000358Posteriorly rotated ears0DVL1 CL E G H1855180700Robinow syndrome180700C0265205OMIM1192443084601365
HP:0000358HP:0000358Posteriorly rotated ears0DVL3 CL E G H1857180700Robinow syndrome180700C0265205OMIM115773087601368
HP:0000358HP:0000358Posteriorly rotated ears0EBF3 CL E G H253738617330Hypotonia, ataxia, and delayed development syndrome617330C4310618OMIM12614719087607407
HP:0000358HP:0000358Posteriorly rotated ears0ECE1 CL E G H1889613870Hirschsprung disease, cardiac defects, and autonomic dysfunction613870C3151237OMIM17473146600423
HP:0000358HP:0000358Posteriorly rotated ears0EDN3 CL E G H1908209880Congenital central hypoventilation209880C1275808OMIM1211173178131242
HP:0000358HP:0000358Posteriorly rotated ears0ESCO2 CL E G H157570268300Roberts-SC phocomelia syndrome268300C0392475OMIM13121527230609353
HP:0000358HP:0000358Posteriorly rotated ears0ESCO2 CL E G H157570269000Roberts-SC phocomelia syndrome269000C0392475OMIM13121527230609353
HP:0000358HP:0000358Posteriorly rotated ears0EXOSC2 CL E G H23404617763SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES617763C4540367OMIM125917097602238
HP:0000358HP:0000358Posteriorly rotated ears0FAM20C CL E G H569751832Diabetes hypogonadism deafness mental retardationORPHA12813922140611061
HP:0000358HP:0000358Posteriorly rotated ears0FBN1 CL E G H22002462ORPHA1272142843603134797
HP:0000358HP:0000358Posteriorly rotated ears0FBXO11 CL E G H80204618089INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES618089CN252702OMIM1267713590607871
HP:0000358HP:0000358Posteriorly rotated ears0FGFR1 CL E G H2260615465Hartsfield syndrome615465C1845146OMIM12653883688136350
HP:0000358HP:0000358Posteriorly rotated ears0FHL1 CL E G H2273300280Uruguay faciocardiomusculoskeletal syndrome300280C1846010OMIM1623703702300163
HP:0000358HP:0000358Posteriorly rotated ears0FLNA CL E G H2316304120Oto-palato-digital syndrome, type II304120C1844696OMIM127114723754300017
HP:0000358HP:0000358Posteriorly rotated ears0FRMD4A CL E G H55691616819Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia616819C4225193OMIM125325491616305
HP:0000358HP:0000358Posteriorly rotated ears0GDNF CL E G H2668209880Congenital central hypoventilation209880C1275808OMIM1111194232600837
HP:0000358HP:0000358Posteriorly rotated ears0GMNN CL E G H510532554ORPHA132117493602842
HP:0000358HP:0000358Posteriorly rotated ears0GNAI3 CL E G H2773602483Auriculocondylar syndrome 1602483C1865295OMIM112244387139370
HP:0000358HP:0000358Posteriorly rotated ears0GPC6 CL E G H1008293329ORPHA192484454604404
HP:0000358HP:0000358Posteriorly rotated ears0GPX4 CL E G H2879250220Spondylometaphyseal dysplasia Sedaghatian type250220C1855229OMIM14564556138322
HP:0000358HP:0000358Posteriorly rotated ears0HERC1 CL E G H8925617011Macrocephaly, dysmorphic facies, and psychomotor retardation617011C4310766OMIM191734867605109
HP:0000358HP:0000358Posteriorly rotated ears0HRAS CL E G H3265218040Costello syndrome218040C0587248OMIM1342955173190020
HP:0000358HP:0000358Posteriorly rotated ears0HSPG2 CL E G H3339224410Lethal Kniest-like syndrome224410C0432208OMIM1678625273142461
HP:0000358HP:0000358Posteriorly rotated ears0ITCH CL E G H83737613385Autoimmune disease, syndromic multisystem613385C3150649OMIM129013890606409
HP:0000358HP:0000358Posteriorly rotated ears0KAT6A CL E G H7994616268Mental retardation, autosomal dominant 32616268C4225396OMIM12921913013601408
HP:0000358HP:0000358Posteriorly rotated ears0KAT6B CL E G H235223047ORPHA17622817582605880
HP:0000358HP:0000358Posteriorly rotated ears0KAT6B CL E G H23522603736Young Simpson syndrome603736C1863557OMIM17622817582605880
HP:0000358HP:0000358Posteriorly rotated ears0KCNH1 CL E G H3756135500Zimmermann-Laband syndrome 1135500CN032818OMIM113916250603305
HP:0000358HP:0000358Posteriorly rotated ears0KDM6A CL E G H7403147920Kabuki syndrome 1147920CN030661OMIM18131112637300128
HP:0000358HP:0000358Posteriorly rotated ears0KIAA1109 CL E G H84162617822ALKURAYA-KUCINSKAS SYNDROME617822CN737163OMIM1167126953611565
HP:0000358HP:0000358Posteriorly rotated ears0KMT2D CL E G H8085147920Kabuki syndrome 1147920CN030661OMIM171213507133602113
HP:0000358HP:0000358Posteriorly rotated ears0KRAS CL E G H3845615278Cardiofaciocutaneous syndrome 2615278C3809005OMIM1452746407190070
HP:0000358HP:0000358Posteriorly rotated ears0KRAS CL E G H3845609942Noonan syndrome 3609942C1860991OMIM1452746407190070
HP:0000358HP:0000358Posteriorly rotated ears0LRP2 CL E G H40362143Junctional epidermolysis bullosa inversaORPHA1466006694600073
HP:0000358HP:0000358Posteriorly rotated ears0MAP3K7 CL E G H6885157800Forney Robinson Pascoe syndrome157800C2931461OMIM113646859602614
HP:0000358HP:0000358Posteriorly rotated ears0MAPRE2 CL E G H10982616734Skin creases, congenital symmetric circumferential, 2616734C4225225OMIM14606891605789
HP:0000358HP:0000358Posteriorly rotated ears0MGAT2 CL E G H4247212066Carbohydrate-deficient glycoprotein syndrome type II212066C2931008OMIM151077045602616
HP:0000358HP:0000358Posteriorly rotated ears0MITF CL E G H4286617306Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness617306C4310625OMIM1612407105156845
HP:0000358HP:0000358Posteriorly rotated ears0MPDZ CL E G H8777615219Hydrocephalus, congenital, 2, with or without brain or eye anomalies615219C3554691OMIM1242467208603785
HP:0000358HP:0000358Posteriorly rotated ears0MRPS22 CL E G H56945611719Combined oxidative phosphorylation deficiency 5611719C2673642OMIM198414508605810
HP:0000358HP:0000358Posteriorly rotated ears0MUSK CL E G H4593994ORPHA1222777525601296
HP:0000358HP:0000358Posteriorly rotated ears0MUSK CL E G H4593208150Pena-Shokeir syndrome type I208150C1276035OMIM1222777525601296
HP:0000358HP:0000358Posteriorly rotated ears0MVK CL E G H4598610377Mevalonic aciduria610377C1959626OMIM11832777530251170
HP:0000358HP:0000358Posteriorly rotated ears0MYCN CL E G H4613164280Feingold syndrome 1164280C0796068OMIM1461037559164840
HP:0000358HP:0000358Posteriorly rotated ears0MYOD1 CL E G H4654994ORPHA15317611159970
HP:0000358HP:0000358Posteriorly rotated ears0NOTCH3 CL E G H48542789ORPHA13795917883600276
HP:0000358HP:0000358Posteriorly rotated ears0NOTCH3 CL E G H4854130720Lehman syndrome130720C1851710OMIM13795917883600276
HP:0000358HP:0000358Posteriorly rotated ears0NSDHL CL E G H50814300831NSDHL-Related Disorders300831C3151781OMIM13125613398300275
HP:0000358HP:0000358Posteriorly rotated ears0OFD1 CL E G H8481300209Simpson-Golabi-Behmel syndrome, type 2300209C1846175OMIM11625102567300170
HP:0000358HP:0000358Posteriorly rotated ears0ORC1 CL E G H49982554ORPHA1121038487601902
HP:0000358HP:0000358Posteriorly rotated ears0ORC4 CL E G H50002554ORPHA16878490603056
HP:0000358HP:0000358Posteriorly rotated ears0ORC6 CL E G H235942554ORPHA169017151607213
HP:0000358HP:0000358Posteriorly rotated ears0ORC6 CL E G H23594613803Meier-Gorlin syndrome 3613803C3151113OMIM169017151607213
HP:0000358HP:0000358Posteriorly rotated ears0PEX1 CL E G H5189214100Zellweger syndrome214100C0043459OMIM11404898850602136
HP:0000358HP:0000358Posteriorly rotated ears0PEX26 CL E G H55670614872Peroxisome biogenesis disorder 7A614872C3539168OMIM12727722965608666
HP:0000358HP:0000358Posteriorly rotated ears0PEX3 CL E G H8504617370Peroxisome biogenesis disorder 10b617370C4479254OMIM1101168858603164
HP:0000358HP:0000358Posteriorly rotated ears0PHOX2B CL E G H8929209880Congenital central hypoventilation209880C1275808OMIM1883879143603851
HP:0000358HP:0000358Posteriorly rotated ears0PIEZO2 CL E G H638952461ORPHA13232926270613629
HP:0000358HP:0000358Posteriorly rotated ears0PIGN CL E G H23556614080Multiple congenital anomalies-hypotonia-seizures syndrome 1614080C3279775OMIM1344168967606097
HP:0000358HP:0000358Posteriorly rotated ears0PIGS CL E G H94005618143GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18618143OMIM152014937610271
HP:0000358HP:0000358Posteriorly rotated ears0PIGV CL E G H55650239300Hyperphosphatasia with mental retardation syndrome 1239300CN030519OMIM11611226031610274
HP:0000358HP:0000358Posteriorly rotated ears0PLAA CL E G H9373617527NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES617527C4479631OMIM13849043603873
HP:0000358HP:0000358Posteriorly rotated ears0PLCB4 CL E G H5332614669Auriculocondylar syndrome 2614669C3553404OMIM1151659059600810
HP:0000358HP:0000358Posteriorly rotated ears0POGZ CL E G H23126616364White-sutton syndrome616364C4225351OMIM15422718801614787
HP:0000358HP:0000358Posteriorly rotated ears0PPM1D CL E G H8493617450Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold617450C4479517OMIM163849277605100
HP:0000358HP:0000358Posteriorly rotated ears0PPP1CB CL E G H5500617506Noonan syndrome-like disorder with loose anagen hair 2617506C4479577OMIM112409282600590
HP:0000358HP:0000358Posteriorly rotated ears0PTPN11 CL E G H5781151100LEOPARD syndrome 1151100CN074218OMIM11434759644176876
HP:0000358HP:0000358Posteriorly rotated ears0PUF60 CL E G H22827508488ORPHA13212917042604819
HP:0000358HP:0000358Posteriorly rotated ears0PYCR1 CL E G H5831614438Autosomal recessive cutis laxa type 3B614438C3280799OMIM1411449721179035
HP:0000358HP:0000358Posteriorly rotated ears0QARS CL E G H5859615760Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy615760C4014239OMIM1109751603727
HP:0000358HP:0000358Posteriorly rotated ears0RAB3GAP2 CL E G H25782212720Martsolf syndrome212720C0796037OMIM11629417168609275
HP:0000358HP:0000358Posteriorly rotated ears0RAPSN CL E G H5913994ORPHA1602119863601592
HP:0000358HP:0000358Posteriorly rotated ears0RAPSN CL E G H5913208150Pena-Shokeir syndrome type I208150C1276035OMIM1602119863601592
HP:0000358HP:0000358Posteriorly rotated ears0RBM10 CL E G H8241311900TARP syndrome311900C1839463OMIM1101979896300080
HP:0000358HP:0000358Posteriorly rotated ears0RERE CL E G H473616975Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart616975C4310772OMIM1251619965605226
HP:0000358HP:0000358Posteriorly rotated ears0RET CL E G H5979209880Congenital central hypoventilation209880C1275808OMIM143214969967164761
HP:0000358HP:0000358Posteriorly rotated ears0RNU4ATAC CL E G H1001516832636Hemihypertrophy intestinal web corneal opacityORPHA1245634016601428
HP:0000358HP:0000358Posteriorly rotated ears0ROR2 CL E G H4920268310Robinow syndrome, autosomal recessive268310C1849334OMIM14025810257602337
HP:0000358HP:0000358Posteriorly rotated ears0RPS28 CL E G H6234606164Diamond-Blackfan anemia 15 with mandibulofacial dysostosis606164C1853576OMIM111010418603685
HP:0000358HP:0000358Posteriorly rotated ears0RUSC2 CL E G H9853617773MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61617773C4540424OMIM148223625611053
HP:0000358HP:0000358Posteriorly rotated ears0SF3B4 CL E G H10262154400Nager syndrome154400C0265245OMIM1385810771605593
HP:0000358HP:0000358Posteriorly rotated ears0SHOC2 CL E G H8036607721Noonan syndrome-like disorder with loose anagen hair 1607721C1843181OMIM1418415454602775
HP:0000358HP:0000358Posteriorly rotated ears0SIX2 CL E G H10736488437ORPHA192010888604994
HP:0000358HP:0000358Posteriorly rotated ears0SKI CL E G H64972462ORPHA12450210896164780
HP:0000358HP:0000358Posteriorly rotated ears0SLC25A24 CL E G H29957612289Fontaine progeroid syndrome612289C2676780OMIM123520662608744
HP:0000358HP:0000358Posteriorly rotated ears0SMG9 CL E G H56006616920Heart and brain malformation syndrome616920C4310793OMIM122925763613176
HP:0000358HP:0000358Posteriorly rotated ears0SMOC1 CL E G H64093206920Anophthalmos with limb anomalies206920C0599973OMIM1155420318608488
HP:0000358HP:0000358Posteriorly rotated ears0SNRPB CL E G H6628117650Cerebro-costo-mandibular syndrome117650C0265342OMIM174311153182282
HP:0000358HP:0000358Posteriorly rotated ears0SOX11 CL E G H6664615866Mental retardation, autosomal dominant 27615866C4014528OMIM1147011191600898
HP:0000358HP:0000358Posteriorly rotated ears0SOX5 CL E G H6660616803Lamb-shaffer syndrome616803C4225202OMIM12914611201604975
HP:0000358HP:0000358Posteriorly rotated ears0SPECC1L CL E G H23384145410Opitz G/BBB syndrome145410C1801950OMIM1815629022614140
HP:0000358HP:0000358Posteriorly rotated ears0SRCAP CL E G H108472044Ectodermal dysplasia Berlin typeORPHA14424516974611421
HP:0000358HP:0000358Posteriorly rotated ears0SRCAP CL E G H10847136140Floating-Harbor syndrome136140C0729582OMIM14424516974611421
HP:0000358HP:0000358Posteriorly rotated ears0TAPT1 CL E G H202018616897Osteochondrodysplasia, complex lethal, symoens-barnes-gistelinck type616897C4225162OMIM136626887612758
HP:0000358HP:0000358Posteriorly rotated ears0TBCE CL E G H6905241410Hypoparathyroidism retardation dysmorphism syndrome241410C1855840OMIM1816111582604934
HP:0000358HP:0000358Posteriorly rotated ears0TBL1XR1 CL E G H79718602342Pierpont syndrome602342C1865644OMIM12516129529608628
HP:0000358HP:0000358Posteriorly rotated ears0TCTN3 CL E G H261232753Hunter Macpherson syndromeORPHA1129524519613847
HP:0000358HP:0000358Posteriorly rotated ears0TFAP2A CL E G H7020113620Branchiooculofacial syndrome113620C0376524OMIM1448211742107580
HP:0000358HP:0000358Posteriorly rotated ears0TLK2 CL E G H11011618050MENTAL RETARDATION, AUTOSOMAL DOMINANT 57618050CN252334OMIM1396411842608439
HP:0000358HP:0000358Posteriorly rotated ears0TMCO1 CL E G H54499213980Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome213980C1859252OMIM153318188614123
HP:0000358HP:0000358Posteriorly rotated ears0TMEM165 CL E G H55858614727Congenital disorder of glycosylation type 2k614727C3553571OMIM166830760614726
HP:0000358HP:0000358Posteriorly rotated ears0TMEM237 CL E G H65062614424Joubert syndrome 14614424C3280766OMIM11122114432614423
HP:0000358HP:0000358Posteriorly rotated ears0TUBB CL E G H203068156610Michelin-tire baby156610C0473586OMIM183320778191130
HP:0000358HP:0000358Posteriorly rotated ears0UNC80 CL E G H285175616801Hypotonia, infantile, with psychomotor retardation and characteristic facies 2616801C4225203OMIM12620426582612636
HP:0000358HP:0000358Posteriorly rotated ears0USP9X CL E G H8239300968Mental retardation, X-linked 99, syndromic, female-restricted300968C4225416OMIM12826912632300072
HP:0000358HP:0000358Posteriorly rotated ears0WAC CL E G H51322616708Desanto-shinawi syndrome616708C4225239OMIM1257717327615049
HP:0000358HP:0000358Posteriorly rotated ears0WNT5A CL E G H7474180700Robinow syndrome180700C0265205OMIM1115812784164975
HP:0000358HP:0000358Posteriorly rotated ears0XYLT2 CL E G H64132605822Spondyloocular syndrome, autosomal recessive605822C1853925OMIM1135715517608125
HP:0000358HP:0000358Posteriorly rotated ears0YY1 CL E G H7528617557GABRIELE-DE VRIES SYNDROME617557C4479652OMIM1235712856600013
HP:0000358HP:0000358Posteriorly rotated ears1ADAMTS18 CL E G H170692615458Microcornea, myopic chorioretinal atrophy, and telecanthus615458C3809567OMIM11719717110607512
HP:0000358HP:0000358Posteriorly rotated ears1AMER1 CL E G H139285300373Osteopathia striata with cranial sclerosis300373C0432268OMIM14121926837300647
HP:0000358HP:0000358Posteriorly rotated ears1AP3B1 CL E G H8546608233Hermansky Pudlak syndrome 2608233C1842362OMIM135238566603401
HP:0000358HP:0000358Posteriorly rotated ears1ARID1B CL E G H57492135900Coffin-Siris syndrome 1135900C3281201OMIM118857518040614556
HP:0000358HP:0000358Posteriorly rotated ears1ASCL1 CL E G H429209880Congenital central hypoventilation209880C1275808OMIM1630738100790
HP:0000358HP:0000358Posteriorly rotated ears1ASXL1 CL E G H171023605039C-like syndrome605039C0796232OMIM14119918318612990
HP:0000358HP:0000358Posteriorly rotated ears1ASXL2 CL E G H55252617190Shashi-Pena syndrome617190C4310672OMIM168123805612991
HP:0000358HP:0000358Posteriorly rotated ears1ATRX CL E G H546301040ATR-X syndrome301040C1845055OMIM1170663886300032
HP:0000358HP:0000358Posteriorly rotated ears1ATRX CL E G H546309580Mental retardation-hypotonic facies syndrome X-linked, 1309580C0796003OMIM1170663886300032
HP:0000358HP:0000358Posteriorly rotated ears1BCOR CL E G H54880300166Oculofaciocardiodental syndrome300166C1846265OMIM15541520893300485
HP:0000358HP:0000358Posteriorly rotated ears1BMP2 CL E G H650617877SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES617877CN807949OMIM137691069112261
HP:0000358HP:0000358Posteriorly rotated ears1BRAF CL E G H673115150Cardiofaciocutaneous syndrome 1115150CN029449OMIM1684901097164757
HP:0000358HP:0000358Posteriorly rotated ears1BRAF CL E G H673613707LEOPARD syndrome 3613707C3150971OMIM1684901097164757
HP:0000358HP:0000358Posteriorly rotated ears1BUB1B CL E G H701257300Mosaic variegated aneuploidy syndrome 1257300CN031748OMIM1293231149602860
HP:0000358HP:0000358Posteriorly rotated ears1CBL CL E G H867613563Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia613563C3150803OMIM1436101541165360
HP:0000358HP:0000358Posteriorly rotated ears1CCNK CL E G H8812618147INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPERTELORISM AND DISTINCTIVE FACIES618147OMIM1321596603544
HP:0000358HP:0000358Posteriorly rotated ears1CD96 CL E G H10225211750C syndrome211750C0796095OMIM134716892606037
HP:0000358HP:0000358Posteriorly rotated ears1CDC42 CL E G H998616737Takenouchi-Kosaki syndrome616737C4225222OMIM111331736116952
HP:0000358HP:0000358Posteriorly rotated ears1CDC45 CL E G H83182554ORPHA1193981739603465
HP:0000358HP:0000358Posteriorly rotated ears1CDC6 CL E G H9902554ORPHA14581744602627
HP:0000358HP:0000358Posteriorly rotated ears1CDH11 CL E G H1009211380Brachioskeletogenital syndrome211380C0809936OMIM110401750600023
HP:0000358HP:0000358Posteriorly rotated ears1CDK13 CL E G H8621617360Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder617360C4479246OMIM1221251733603309
HP:0000358HP:0000358Posteriorly rotated ears1CDT1 CL E G H816202554ORPHA11215824576605525
HP:0000358HP:0000358Posteriorly rotated ears1CHST14 CL E G H113189601776Ehlers-Danlos syndrome, musculocontractural type601776C1866294OMIM1229624464608429
HP:0000358HP:0000358Posteriorly rotated ears1CPLANE1 CL E G H65250277170Orofaciodigital syndrome 6277170C2745997OMIM111859425801614571
HP:0000358HP:0000358Posteriorly rotated ears1CPT2 CL E G H1376608836Carnitine palmitoyltransferase II deficiency, lethal neonatal608836C1833518OMIM11133662330600650
HP:0000358HP:0000358Posteriorly rotated ears1DHCR7 CL E G H1717270400Smith-Lemli-Opitz syndrome270400C0175694OMIM12183762860602858
HP:0000358HP:0000358Posteriorly rotated ears1DIS3L2 CL E G H1295632849ORPHA11488128648614184
HP:0000358HP:0000358Posteriorly rotated ears1DOK7 CL E G H285489994ORPHA17545826594610285
HP:0000358HP:0000358Posteriorly rotated ears1DOK7 CL E G H285489208150Pena-Shokeir syndrome type I208150C1276035OMIM17545826594610285
HP:0000358HP:0000358Posteriorly rotated ears1DPF2 CL E G H5977618027COFFIN-SIRIS SYNDROME 7618027CN248780OMIM19149964601671
HP:0000358HP:0000358Posteriorly rotated ears1DVL1 CL E G H1855180700Robinow syndrome180700C0265205OMIM1192443084601365
HP:0000358HP:0000358Posteriorly rotated ears1DVL3 CL E G H1857180700Robinow syndrome180700C0265205OMIM115773087601368
HP:0000358HP:0000358Posteriorly rotated ears1EBF3 CL E G H253738617330Hypotonia, ataxia, and delayed development syndrome617330C4310618OMIM12614719087607407
HP:0000358HP:0000358Posteriorly rotated ears1ECE1 CL E G H1889613870Hirschsprung disease, cardiac defects, and autonomic dysfunction613870C3151237OMIM17473146600423
HP:0000358HP:0000358Posteriorly rotated ears1EDN3 CL E G H1908209880Congenital central hypoventilation209880C1275808OMIM1211173178131242
HP:0000358HP:0000358Posteriorly rotated ears1ESCO2 CL E G H157570268300Roberts-SC phocomelia syndrome268300C0392475OMIM13121527230609353
HP:0000358HP:0000358Posteriorly rotated ears1ESCO2 CL E G H157570269000Roberts-SC phocomelia syndrome269000C0392475OMIM13121527230609353
HP:0000358HP:0000358Posteriorly rotated ears1EXOSC2 CL E G H23404617763SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES617763C4540367OMIM125917097602238
HP:0000358HP:0000358Posteriorly rotated ears1FAM20C CL E G H569751832Diabetes hypogonadism deafness mental retardationORPHA12813922140611061
HP:0000358HP:0000358Posteriorly rotated ears1FBN1 CL E G H22002462ORPHA1272142843603134797
HP:0000358HP:0000358Posteriorly rotated ears1FBXO11 CL E G H80204618089INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES618089CN252702OMIM1267713590607871
HP:0000358HP:0000358Posteriorly rotated ears1FGFR1 CL E G H2260615465Hartsfield syndrome615465C1845146OMIM12653883688136350
HP:0000358HP:0000358Posteriorly rotated ears1FHL1 CL E G H2273300280Uruguay faciocardiomusculoskeletal syndrome300280C1846010OMIM1623703702300163
HP:0000358HP:0000358Posteriorly rotated ears1FLNA CL E G H2316304120Oto-palato-digital syndrome, type II304120C1844696OMIM127114723754300017
HP:0000358HP:0000358Posteriorly rotated ears1FRMD4A CL E G H55691616819Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia616819C4225193OMIM125325491616305
HP:0000358HP:0000358Posteriorly rotated ears1GDNF CL E G H2668209880Congenital central hypoventilation209880C1275808OMIM1111194232600837
HP:0000358HP:0000358Posteriorly rotated ears1GMNN CL E G H510532554ORPHA132117493602842
HP:0000358HP:0000358Posteriorly rotated ears1GNAI3 CL E G H2773602483Auriculocondylar syndrome 1602483C1865295OMIM112244387139370
HP:0000358HP:0000358Posteriorly rotated ears1GPC6 CL E G H1008293329ORPHA192484454604404
HP:0000358HP:0000358Posteriorly rotated ears1GPX4 CL E G H2879250220Spondylometaphyseal dysplasia Sedaghatian type250220C1855229OMIM14564556138322
HP:0000358HP:0000358Posteriorly rotated ears1HERC1 CL E G H8925617011Macrocephaly, dysmorphic facies, and psychomotor retardation617011C4310766OMIM191734867605109
HP:0000358HP:0000358Posteriorly rotated ears1HRAS CL E G H3265218040Costello syndrome218040C0587248OMIM1342955173190020
HP:0000358HP:0000358Posteriorly rotated ears1HSPG2 CL E G H3339224410Lethal Kniest-like syndrome224410C0432208OMIM1678625273142461
HP:0000358HP:0000358Posteriorly rotated ears1ITCH CL E G H83737613385Autoimmune disease, syndromic multisystem613385C3150649OMIM129013890606409
HP:0000358HP:0000358Posteriorly rotated ears1KAT6A CL E G H7994616268Mental retardation, autosomal dominant 32616268C4225396OMIM12921913013601408
HP:0000358HP:0000358Posteriorly rotated ears1KAT6B CL E G H235223047ORPHA17622817582605880
HP:0000358HP:0000358Posteriorly rotated ears1KAT6B CL E G H23522603736Young Simpson syndrome603736C1863557OMIM17622817582605880
HP:0000358HP:0000358Posteriorly rotated ears1KCNH1 CL E G H3756135500Zimmermann-Laband syndrome 1135500CN032818OMIM113916250603305
HP:0000358HP:0000358Posteriorly rotated ears1KDM6A CL E G H7403147920Kabuki syndrome 1147920CN030661OMIM18131112637300128
HP:0000358HP:0000358Posteriorly rotated ears1KIAA1109 CL E G H84162617822ALKURAYA-KUCINSKAS SYNDROME617822CN737163OMIM1167126953611565
HP:0000358HP:0000358Posteriorly rotated ears1KMT2D CL E G H8085147920Kabuki syndrome 1147920CN030661OMIM171213507133602113
HP:0000358HP:0000358Posteriorly rotated ears1KRAS CL E G H3845615278Cardiofaciocutaneous syndrome 2615278C3809005OMIM1452746407190070
HP:0000358HP:0000358Posteriorly rotated ears1KRAS CL E G H3845609942Noonan syndrome 3609942C1860991OMIM1452746407190070
HP:0000358HP:0000358Posteriorly rotated ears1LRP2 CL E G H40362143Junctional epidermolysis bullosa inversaORPHA1466006694600073
HP:0000358HP:0000358Posteriorly rotated ears1MAP3K7 CL E G H6885157800Forney Robinson Pascoe syndrome157800C2931461OMIM113646859602614
HP:0000358HP:0000358Posteriorly rotated ears1MAPRE2 CL E G H10982616734Skin creases, congenital symmetric circumferential, 2616734C4225225OMIM14606891605789
HP:0000358HP:0000358Posteriorly rotated ears1MGAT2 CL E G H4247212066Carbohydrate-deficient glycoprotein syndrome type II212066C2931008OMIM151077045602616
HP:0000358HP:0000358Posteriorly rotated ears1MITF CL E G H4286617306Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness617306C4310625OMIM1612407105156845
HP:0000358HP:0000358Posteriorly rotated ears1MPDZ CL E G H8777615219Hydrocephalus, congenital, 2, with or without brain or eye anomalies615219C3554691OMIM1242467208603785
HP:0000358HP:0000358Posteriorly rotated ears1MRPS22 CL E G H56945611719Combined oxidative phosphorylation deficiency 5611719C2673642OMIM198414508605810
HP:0000358HP:0000358Posteriorly rotated ears1MUSK CL E G H4593994ORPHA1222777525601296
HP:0000358HP:0000358Posteriorly rotated ears1MUSK CL E G H4593208150Pena-Shokeir syndrome type I208150C1276035OMIM1222777525601296
HP:0000358HP:0000358Posteriorly rotated ears1MVK CL E G H4598610377Mevalonic aciduria610377C1959626OMIM11832777530251170
HP:0000358HP:0000358Posteriorly rotated ears1MYCN CL E G H4613164280Feingold syndrome 1164280C0796068OMIM1461037559164840
HP:0000358HP:0000358Posteriorly rotated ears1MYOD1 CL E G H4654994ORPHA15317611159970
HP:0000358HP:0000358Posteriorly rotated ears1NOTCH3 CL E G H48542789ORPHA13795917883600276
HP:0000358HP:0000358Posteriorly rotated ears1NOTCH3 CL E G H4854130720Lehman syndrome130720C1851710OMIM13795917883600276
HP:0000358HP:0000358Posteriorly rotated ears1NSDHL CL E G H50814300831NSDHL-Related Disorders300831C3151781OMIM13125613398300275
HP:0000358HP:0000358Posteriorly rotated ears1OFD1 CL E G H8481300209Simpson-Golabi-Behmel syndrome, type 2300209C1846175OMIM11625102567300170
HP:0000358HP:0000358Posteriorly rotated ears1ORC1 CL E G H49982554ORPHA1121038487601902
HP:0000358HP:0000358Posteriorly rotated ears1ORC4 CL E G H50002554ORPHA16878490603056
HP:0000358HP:0000358Posteriorly rotated ears1ORC6 CL E G H235942554ORPHA169017151607213
HP:0000358HP:0000358Posteriorly rotated ears1ORC6 CL E G H23594613803Meier-Gorlin syndrome 3613803C3151113OMIM169017151607213
HP:0000358HP:0000358Posteriorly rotated ears1PEX1 CL E G H5189214100Zellweger syndrome214100C0043459OMIM11404898850602136
HP:0000358HP:0000358Posteriorly rotated ears1PEX26 CL E G H55670614872Peroxisome biogenesis disorder 7A614872C3539168OMIM12727722965608666
HP:0000358HP:0000358Posteriorly rotated ears1PEX3 CL E G H8504617370Peroxisome biogenesis disorder 10b617370C4479254OMIM1101168858603164
HP:0000358HP:0000358Posteriorly rotated ears1PHOX2B CL E G H8929209880Congenital central hypoventilation209880C1275808OMIM1883879143603851
HP:0000358HP:0000358Posteriorly rotated ears1PIEZO2 CL E G H638952461ORPHA13232926270613629
HP:0000358HP:0000358Posteriorly rotated ears1PIGN CL E G H23556614080Multiple congenital anomalies-hypotonia-seizures syndrome 1614080C3279775OMIM1344168967606097
HP:0000358HP:0000358Posteriorly rotated ears1PIGS CL E G H94005618143GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18618143OMIM152014937610271
HP:0000358HP:0000358Posteriorly rotated ears1PIGV CL E G H55650239300Hyperphosphatasia with mental retardation syndrome 1239300CN030519OMIM11611226031610274
HP:0000358HP:0000358Posteriorly rotated ears1PLAA CL E G H9373617527NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES617527C4479631OMIM13849043603873
HP:0000358HP:0000358Posteriorly rotated ears1PLCB4 CL E G H5332614669Auriculocondylar syndrome 2614669C3553404OMIM1151659059600810
HP:0000358HP:0000358Posteriorly rotated ears1POGZ CL E G H23126616364White-sutton syndrome616364C4225351OMIM15422718801614787
HP:0000358HP:0000358Posteriorly rotated ears1PPM1D CL E G H8493617450Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold617450C4479517OMIM163849277605100
HP:0000358HP:0000358Posteriorly rotated ears1PPP1CB CL E G H5500617506Noonan syndrome-like disorder with loose anagen hair 2617506C4479577OMIM112409282600590
HP:0000358HP:0000358Posteriorly rotated ears1PTPN11 CL E G H5781151100LEOPARD syndrome 1151100CN074218OMIM11434759644176876
HP:0000358HP:0000358Posteriorly rotated ears1PUF60 CL E G H22827508488ORPHA13212917042604819
HP:0000358HP:0000358Posteriorly rotated ears1PYCR1 CL E G H5831614438Autosomal recessive cutis laxa type 3B614438C3280799OMIM1411449721179035
HP:0000358HP:0000358Posteriorly rotated ears1QARS CL E G H5859615760Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy615760C4014239OMIM1109751603727
HP:0000358HP:0000358Posteriorly rotated ears1RAB3GAP2 CL E G H25782212720Martsolf syndrome212720C0796037OMIM11629417168609275
HP:0000358HP:0000358Posteriorly rotated ears1RAPSN CL E G H5913994ORPHA1602119863601592
HP:0000358HP:0000358Posteriorly rotated ears1RAPSN CL E G H5913208150Pena-Shokeir syndrome type I208150C1276035OMIM1602119863601592
HP:0000358HP:0000358Posteriorly rotated ears1RBM10 CL E G H8241311900TARP syndrome311900C1839463OMIM1101979896300080
HP:0000358HP:0000358Posteriorly rotated ears1RERE CL E G H473616975Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart616975C4310772OMIM1251619965605226
HP:0000358HP:0000358Posteriorly rotated ears1RET CL E G H5979209880Congenital central hypoventilation209880C1275808OMIM143214969967164761
HP:0000358HP:0000358Posteriorly rotated ears1RNU4ATAC CL E G H1001516832636Hemihypertrophy intestinal web corneal opacityORPHA1245634016601428
HP:0000358HP:0000358Posteriorly rotated ears1ROR2 CL E G H4920268310Robinow syndrome, autosomal recessive268310C1849334OMIM14025810257602337
HP:0000358HP:0000358Posteriorly rotated ears1RPS28 CL E G H6234606164Diamond-Blackfan anemia 15 with mandibulofacial dysostosis606164C1853576OMIM111010418603685
HP:0000358HP:0000358Posteriorly rotated ears1RUSC2 CL E G H9853617773MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61617773C4540424OMIM148223625611053
HP:0000358HP:0000358Posteriorly rotated ears1SF3B4 CL E G H10262154400Nager syndrome154400C0265245OMIM1385810771605593
HP:0000358HP:0000358Posteriorly rotated ears1SHOC2 CL E G H8036607721Noonan syndrome-like disorder with loose anagen hair 1607721C1843181OMIM1418415454602775
HP:0000358HP:0000358Posteriorly rotated ears1SIX2 CL E G H10736488437ORPHA192010888604994
HP:0000358HP:0000358Posteriorly rotated ears1SKI CL E G H64972462ORPHA12450210896164780
HP:0000358HP:0000358Posteriorly rotated ears1SLC25A24 CL E G H29957612289Fontaine progeroid syndrome612289C2676780OMIM123520662608744
HP:0000358HP:0000358Posteriorly rotated ears1SMG9 CL E G H56006616920Heart and brain malformation syndrome616920C4310793OMIM122925763613176
HP:0000358HP:0000358Posteriorly rotated ears1SMOC1 CL E G H64093206920Anophthalmos with limb anomalies206920C0599973OMIM1155420318608488
HP:0000358HP:0000358Posteriorly rotated ears1SNRPB CL E G H6628117650Cerebro-costo-mandibular syndrome117650C0265342OMIM174311153182282
HP:0000358HP:0000358Posteriorly rotated ears1SOX11 CL E G H6664615866Mental retardation, autosomal dominant 27615866C4014528OMIM1147011191600898
HP:0000358HP:0000358Posteriorly rotated ears1SOX5 CL E G H6660616803Lamb-shaffer syndrome616803C4225202OMIM12914611201604975
HP:0000358HP:0000358Posteriorly rotated ears1SPECC1L CL E G H23384145410Opitz G/BBB syndrome145410C1801950OMIM1815629022614140
HP:0000358HP:0000358Posteriorly rotated ears1SRCAP CL E G H108472044Ectodermal dysplasia Berlin typeORPHA14424516974611421
HP:0000358HP:0000358Posteriorly rotated ears1SRCAP CL E G H10847136140Floating-Harbor syndrome136140C0729582OMIM14424516974611421
HP:0000358HP:0000358Posteriorly rotated ears1TAPT1 CL E G H202018616897Osteochondrodysplasia, complex lethal, symoens-barnes-gistelinck type616897C4225162OMIM136626887612758
HP:0000358HP:0000358Posteriorly rotated ears1TBCE CL E G H6905241410Hypoparathyroidism retardation dysmorphism syndrome241410C1855840OMIM1816111582604934
HP:0000358HP:0000358Posteriorly rotated ears1TBL1XR1 CL E G H79718602342Pierpont syndrome602342C1865644OMIM12516129529608628
HP:0000358HP:0000358Posteriorly rotated ears1TCTN3 CL E G H261232753Hunter Macpherson syndromeORPHA1129524519613847
HP:0000358HP:0000358Posteriorly rotated ears1TFAP2A CL E G H7020113620Branchiooculofacial syndrome113620C0376524OMIM1448211742107580
HP:0000358HP:0000358Posteriorly rotated ears1TLK2 CL E G H11011618050MENTAL RETARDATION, AUTOSOMAL DOMINANT 57618050CN252334OMIM1396411842608439
HP:0000358HP:0000358Posteriorly rotated ears1TMCO1 CL E G H54499213980Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome213980C1859252OMIM153318188614123
HP:0000358HP:0000358Posteriorly rotated ears1TMEM165 CL E G H55858614727Congenital disorder of glycosylation type 2k614727C3553571OMIM166830760614726
HP:0000358HP:0000358Posteriorly rotated ears1TMEM237 CL E G H65062614424Joubert syndrome 14614424C3280766OMIM11122114432614423
HP:0000358HP:0000358Posteriorly rotated ears1TUBB CL E G H203068156610Michelin-tire baby156610C0473586OMIM183320778191130
HP:0000358HP:0000358Posteriorly rotated ears1UNC80 CL E G H285175616801Hypotonia, infantile, with psychomotor retardation and characteristic facies 2616801C4225203OMIM12620426582612636
HP:0000358HP:0000358Posteriorly rotated ears1USP9X CL E G H8239300968Mental retardation, X-linked 99, syndromic, female-restricted300968C4225416OMIM12826912632300072
HP:0000358HP:0000358Posteriorly rotated ears1WAC CL E G H51322616708Desanto-shinawi syndrome616708C4225239OMIM1257717327615049
HP:0000358HP:0000358Posteriorly rotated ears1WNT5A CL E G H7474180700Robinow syndrome180700C0265205OMIM1115812784164975
HP:0000358HP:0000358Posteriorly rotated ears1XYLT2 CL E G H64132605822Spondyloocular syndrome, autosomal recessive605822C1853925OMIM1135715517608125
HP:0000358HP:0000358Posteriorly rotated ears1YY1 CL E G H7528617557GABRIELE-DE VRIES SYNDROME617557C4479652OMIM1235712856600013
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000358HP:0000358Posteriorly rotated ears0ACAN CL E G H176612813Spondyloepimetaphyseal dysplasia, Aggrecan type612813C2748544OMIM064178319155760
HP:0000358HP:0000358Posteriorly rotated ears0ALG9 CL E G H79796263210Gillessen-Kaesbach-Nishimura syndrome263210C1849762OMIM0416015672606941
HP:0000358HP:0000358Posteriorly rotated ears0AMER1 CL E G H1392852780Hydronephrosis congenitalORPHA04121926837300647
HP:0000358HP:0000358Posteriorly rotated ears0B3GALNT2 CL E G H148789899ORPHA01622128596610194
HP:0000358HP:0000358Posteriorly rotated ears0B4GAT1 CL E G H11041899ORPHA078415685605517
HP:0000358HP:0000358Posteriorly rotated ears0BMP4 CL E G H652607932Microphthalmia syndromic 6607932C1864689OMIM048891071112262
HP:0000358HP:0000358Posteriorly rotated ears0CDK10 CL E G H8558617694AL KAISSI SYNDROME617694C4540156OMIM07691770603464
HP:0000358HP:0000358Posteriorly rotated ears0COL4A1 CL E G H1282899ORPHA01144982202120130
HP:0000358HP:0000358Posteriorly rotated ears0COX7B CL E G H1349300887Linear skin defects with multiple congenital anomalies 2300887C3550921OMIM051642291300885
HP:0000358HP:0000358Posteriorly rotated ears0DAG1 CL E G H1605899ORPHA0113012666128239
HP:0000358HP:0000358Posteriorly rotated ears0DHCR24 CL E G H1718602398Desmosterolosis602398C1865596OMIM0101372859606418
HP:0000358HP:0000358Posteriorly rotated ears0DVL1 CL E G H18553107ORPHA0192443084601365
HP:0000358HP:0000358Posteriorly rotated ears0DVL3 CL E G H18573107ORPHA015773087601368
HP:0000358HP:0000358Posteriorly rotated ears0FAM20C CL E G H56975259775Raine syndrome259775C1850106OMIM02813922140611061
HP:0000358HP:0000358Posteriorly rotated ears0FKRP CL E G H79147899ORPHA014140217997606596
HP:0000358HP:0000358Posteriorly rotated ears0FKTN CL E G H2218899ORPHA0594503622607440
HP:0000358HP:0000358Posteriorly rotated ears0FZD2 CL E G H25353107ORPHA07304040600667
HP:0000358HP:0000358Posteriorly rotated ears0GLI3 CL E G H2737146510Pallister-Hall syndrome146510C0265220OMIM02445374319165240
HP:0000358HP:0000358Posteriorly rotated ears0GMNN CL E G H51053616835Meier-gorlin syndrome 6616835C4225188OMIM032117493602842
HP:0000358HP:0000358Posteriorly rotated ears0HOXB1 CL E G H3211614744Hereditary congenital facial paresis 3614744C3553625OMIM06275111142968
HP:0000358HP:0000358Posteriorly rotated ears0ISPD CL E G H729920899ORPHA047537276614631
HP:0000358HP:0000358Posteriorly rotated ears0KIF7 CL E G H374654200990Acrocallosal syndrome, Schinzel type200990C0796147OMIM04538630497611254
HP:0000358HP:0000358Posteriorly rotated ears0LARGE1 CL E G H9215899ORPHA0284066511603590
HP:0000358HP:0000358Posteriorly rotated ears0LRP2 CL E G H4036222448Donnai Barrow syndrome222448C1857277OMIM0466006694600073
HP:0000358HP:0000358Posteriorly rotated ears0MAF CL E G H4094601088Ayme-gripp syndrome601088C1832812OMIM0221726776177075
HP:0000358HP:0000358Posteriorly rotated ears0NF1 CL E G H4763601321Neurofibromatosis-Noonan syndrome601321C2931482OMIM0301164917765613113
HP:0000358HP:0000358Posteriorly rotated ears0POMGNT1 CL E G H55624899ORPHA08946119139606822
HP:0000358HP:0000358Posteriorly rotated ears0POMGNT2 CL E G H84892899ORPHA0919125902614828
HP:0000358HP:0000358Posteriorly rotated ears0POMK CL E G H84197899ORPHA0814826267615247
HP:0000358HP:0000358Posteriorly rotated ears0POMT1 CL E G H10585899ORPHA0965089202607423
HP:0000358HP:0000358Posteriorly rotated ears0POMT2 CL E G H29954899ORPHA07550219743607439
HP:0000358HP:0000358Posteriorly rotated ears0RPS26 CL E G H6231613309Diamond-Blackfan anemia 10613309C2750080OMIM0345110414603701
HP:0000358HP:0000358Posteriorly rotated ears0RXYLT1 CL E G H10329899ORPHA0810613530605862
HP:0000358HP:0000358Posteriorly rotated ears0SMC3 CL E G H9126610759Cornelia de Lange syndrome 3610759C1853099OMIM0282132468606062
HP:0000358HP:0000358Posteriorly rotated ears0WNT5A CL E G H74743107ORPHA0115812784164975
HP:0000358HP:0000358Posteriorly rotated ears1ACAN CL E G H176612813Spondyloepimetaphyseal dysplasia, Aggrecan type612813C2748544OMIM064178319155760
HP:0000358HP:0000358Posteriorly rotated ears1ALG9 CL E G H79796263210Gillessen-Kaesbach-Nishimura syndrome263210C1849762OMIM0416015672606941
HP:0000358HP:0000358Posteriorly rotated ears1AMER1 CL E G H1392852780Hydronephrosis congenitalORPHA04121926837300647
HP:0000358HP:0000358Posteriorly rotated ears1B3GALNT2 CL E G H148789899ORPHA01622128596610194
HP:0000358HP:0000358Posteriorly rotated ears1B4GAT1 CL E G H11041899ORPHA078415685605517
HP:0000358HP:0000358Posteriorly rotated ears1BMP4 CL E G H652607932Microphthalmia syndromic 6607932C1864689OMIM048891071112262
HP:0000358HP:0000358Posteriorly rotated ears1CDK10 CL E G H8558617694AL KAISSI SYNDROME617694C4540156OMIM07691770603464
HP:0000358HP:0000358Posteriorly rotated ears1COL4A1 CL E G H1282899ORPHA01144982202120130
HP:0000358HP:0000358Posteriorly rotated ears1COX7B CL E G H1349300887Linear skin defects with multiple congenital anomalies 2300887C3550921OMIM051642291300885
HP:0000358HP:0000358Posteriorly rotated ears1DAG1 CL E G H1605899ORPHA0113012666128239
HP:0000358HP:0000358Posteriorly rotated ears1DHCR24 CL E G H1718602398Desmosterolosis602398C1865596OMIM0101372859606418
HP:0000358HP:0000358Posteriorly rotated ears1DVL1 CL E G H18553107ORPHA0192443084601365
HP:0000358HP:0000358Posteriorly rotated ears1DVL3 CL E G H18573107ORPHA015773087601368
HP:0000358HP:0000358Posteriorly rotated ears1FAM20C CL E G H56975259775Raine syndrome259775C1850106OMIM02813922140611061
HP:0000358HP:0000358Posteriorly rotated ears1FKRP CL E G H79147899ORPHA014140217997606596
HP:0000358HP:0000358Posteriorly rotated ears1FKTN CL E G H2218899ORPHA0594503622607440
HP:0000358HP:0000358Posteriorly rotated ears1FZD2 CL E G H25353107ORPHA07304040600667
HP:0000358HP:0000358Posteriorly rotated ears1GLI3 CL E G H2737146510Pallister-Hall syndrome146510C0265220OMIM02445374319165240
HP:0000358HP:0000358Posteriorly rotated ears1GMNN CL E G H51053616835Meier-gorlin syndrome 6616835C4225188OMIM032117493602842
HP:0000358HP:0000358Posteriorly rotated ears1HOXB1 CL E G H3211614744Hereditary congenital facial paresis 3614744C3553625OMIM06275111142968
HP:0000358HP:0000358Posteriorly rotated ears1ISPD CL E G H729920899ORPHA047537276614631
HP:0000358HP:0000358Posteriorly rotated ears1KIF7 CL E G H374654200990Acrocallosal syndrome, Schinzel type200990C0796147OMIM04538630497611254
HP:0000358HP:0000358Posteriorly rotated ears1LARGE1 CL E G H9215899ORPHA0284066511603590
HP:0000358HP:0000358Posteriorly rotated ears1LRP2 CL E G H4036222448Donnai Barrow syndrome222448C1857277OMIM0466006694600073
HP:0000358HP:0000358Posteriorly rotated ears1MAF CL E G H4094601088Ayme-gripp syndrome601088C1832812OMIM0221726776177075
HP:0000358HP:0000358Posteriorly rotated ears1NF1 CL E G H4763601321Neurofibromatosis-Noonan syndrome601321C2931482OMIM0301164917765613113
HP:0000358HP:0000358Posteriorly rotated ears1POMGNT1 CL E G H55624899ORPHA08946119139606822
HP:0000358HP:0000358Posteriorly rotated ears1POMGNT2 CL E G H84892899ORPHA0919125902614828
HP:0000358HP:0000358Posteriorly rotated ears1POMK CL E G H84197899ORPHA0814826267615247
HP:0000358HP:0000358Posteriorly rotated ears1POMT1 CL E G H10585899ORPHA0965089202607423
HP:0000358HP:0000358Posteriorly rotated ears1POMT2 CL E G H29954899ORPHA07550219743607439
HP:0000358HP:0000358Posteriorly rotated ears1RPS26 CL E G H6231613309Diamond-Blackfan anemia 10613309C2750080OMIM0345110414603701
HP:0000358HP:0000358Posteriorly rotated ears1RXYLT1 CL E G H10329899ORPHA0810613530605862
HP:0000358HP:0000358Posteriorly rotated ears1SMC3 CL E G H9126610759Cornelia de Lange syndrome 3610759C1853099OMIM0282132468606062
HP:0000358HP:0000358Posteriorly rotated ears1WNT5A CL E G H74743107ORPHA0115812784164975


Genes (318) :A2ML1 ACAN ACTG2 ADAMTS18 ADNP AHI1 ALG9 ALX1 ALX3 AMER1 AP3B1 ARID1B ARID2 ARL6 ASCL1 ASXL1 ASXL2 ATRX B3GALNT2 B3GLCT B4GAT1 B9D1 B9D2 BAZ1B BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 BCOR BMP2 BMP4 BRAF BUB1 BUB1B BUB3 C8ORF37 CAMKMT CANT1 CBL CC2D2A CCNK CD96 CDC42 CDC45 CDC6 CDH11 CDK10 CDK13 CDT1 CEP120 CEP290 CEP41 CEP55 CEP57 CHD7 CHST14 CLIP2 COG1 COL4A1 COX7B CPLANE1 CPT2 CRPPA CSPP1 CTNND2 DAG1 DHCR24 DHCR7 DHODH DIS3L2 DLL3 DOK7 DPF2 DVL1 DVL3 DZIP1L EBF3 ECE1 EDN1 EDN3 EED ELN ERCC1 ERF ERMARD ESCO2 EXOSC2 EXT1 EZH2 FAM20C FBN1 FBXO11 FGD1 FGFR1 FGFR2 FHL1 FKRP FKTN FLI1 FLNA FRAS1 FREM2 FRMD4A FZD2 GABRD GBA GDNF GLE1 GLI3 GMNN GNAI3 GPC3 GPC4 GPC6 GPX4 GRIP1 GTF2I GTF2IRD1 HBA1 HBA2 HDAC8 HERC1 HES7 HOXB1 HOXD13 HRAS HSPG2 HYLS1 IFT172 IFT27 INPP5E INSR ITCH KAT6A KAT6B KCNAB2 KCNH1 KDM6A KIAA0586 KIAA0753 KIAA1109 KIF7 KMT2A KMT2D KRAS LARGE1 LETM1 LFNG LIG4 LIMK1 LRP2 LZTFL1 LZTR1 MAF MAP2K1 MAP2K2 MAP3K7 MAPRE2 MESP2 MGAT2 MITF MKKS MKS1 MPDZ MRPS22 MUSK MVK MYCN MYH3 MYOD1 NAA10 NELFA NF1 NIPBL NOTCH3 NPHP1 NRAS NSD1 NSD2 NSDHL NSUN2 NXN OCRL OFD1 ORC1 ORC4 ORC6 OTX2 PDE6D PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PHOX2B PIEZO2 PIGN PIGS PIGV PKHD1 PLAA PLCB4 PNPLA6 POGZ POMGNT1 POMGNT2 POMK POMT1 POMT2 PPM1B PPM1D PPP1CB PRDM16 PREPL PRRX1 PTPN11 PUF60 PYCR1 QARS RAB18 RAB3GAP1 RAB3GAP2 RAD21 RAF1 RAI1 RAPSN RASA2 RBM10 RBM8A RECQL4 RERE RET RFC2 RIPPLY2 RIT1 RMRP RNU4ATAC ROR2 RPGRIP1 RPGRIP1L RPS26 RPS28 RRAS RUSC2 RXYLT1 SDCCAG8 SEMA3E SEMA5A SETD5 SF3B4 SHOC2 SIX2 SKI SLC25A24 SLC26A2 SLC3A1 SMC1A SMC3 SMG9 SMOC1 SNRPB SOS1 SOS2 SOX11 SOX5 SPECC1L SPRED1 SRCAP SRY SUZ12 TAPT1 TBC1D20 TBCE TBL1XR1 TBL2 TBR1 TCTN2 TCTN3 TFAP2A TGDS TLK2 TMCO1 TMEM107 TMEM138 TMEM165 TMEM216 TMEM231 TMEM237 TMEM67 TRIM32 TRIP13 TRPS1 TRPV4 TTC8 TUBB UMPS UNC80 USP9X WAC WDPCP WNT5A XYLT1 XYLT2 YY1 ZNF423

Diseases (235) :612813 615458 263210 2780 300373 608233 135900 209880 605039 617190 301040 309580 899 300166 617877 607932 115150 613707 257300 613563 618147 211750 616737 2554 211380 617694 617360 601776 300887 277170 608836 602398 270400 2849 994 208150 618027 3107 180700 617330 613870 268300 269000 617763 1832 259775 2462 618089 615465 300280 304120 616819 146510 616835 602483 93329 250220 617011 614744 218040 224410 613385 616268 3047 603736 135500 147920 617822 200990 615278 609942 222448 2143 601088 157800 616734 212066 617306 615219 611719 610377 164280 601321 2789 130720 300831 300209 613803 214100 614872 617370 2461 614080 618143 239300 617527 614669 616364 617450 617506 151100 508488 614438 615760 212720 311900 616975 2636 268310 613309 606164 617773 154400 607721 488437 612289 610759 616920 206920 117650 615866 616803 145410 2044 136140 616897 241410 602342 2753 113620 618050 213980 614727 614424 156610 616801 300968 616708 605822 617557 648 171866 2604 615873 220493 306542 613456 391474 251056 617808 110 709 564 904 568 500 1340 163950 1052 163693 1425 2318 1308 138 611209 2754 397715 281 35107 818 246 2311 731 137888 3447 610758 2343 75857 502 915 2117 83 123790 2308 2052 466688 1606 85212 1486 672 373 98791 199 887 3071 800 2189 508 457193 280 235 638 2505 29 178110 220497 1507 534 990 44 2059 521426 2377 2701 2510 1387 1713 3320 218600 175 245 182212 2963 628 1106 610733 611431 1772 2323 1617 1297 1388 1394 2635 30
 

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