Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the outer ear (HP:0000356)help
Grandparent Node:
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Aplasia/Hypoplasia of the ear (HP:0008771)help
Parent Node:
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Abnormality of the pinna (HP:0000377)help
Parent Node:
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Aplasia/Hypoplasia of the external ear (HP:0008772)help
..Starting node
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Microtia (HP:0008551)help
Term ID: 8551
Name: Microtia
Synonym: Bilateral microtia; Hypoplasia of the external ear; Hypoplastic ears; Hypoplastic pinna; Small ears; Small pinnae; Underdeveloped ears
Definition: Underdevelopment of the external ear.
Comments:
Reference: HP:0008551
Genes and Diseases:
 
       Child Nodes:
........expandMicrotia, second degree (HP:0008569) help
........expandMicrotia, first degree (HP:0011266) help
........expandMicrotia, third degree (HP:0011267) help

 Sister Nodes: 
..expandAnotia (HP:0009892) help
..expandFocal absence of the external ear (HP:0400003) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0008551HP:0008551Microtia0ABHD5 CL E G H51099275630Triglyceride storage disease with ichthyosis275630C0268238OMIM13915521396604780
HP:0008551HP:0008551Microtia0AGA CL E G H17593ORPHA138239318613228
HP:0008551HP:0008551Microtia0AMER1 CL E G H139285300373Osteopathia striata with cranial sclerosis300373C0432268OMIM14121926837300647
HP:0008551HP:0008551Microtia0ATRX CL E G H546301040ATR-X syndrome301040C1845055OMIM1170663886300032
HP:0008551HP:0008551Microtia0ATRX CL E G H546309580Mental retardation-hypotonic facies syndrome X-linked, 1309580C0796003OMIM1170663886300032
HP:0008551HP:0008551Microtia0B3GAT3 CL E G H26229245600Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects245600C3278404OMIM11343923606374
HP:0008551HP:0008551Microtia0BPTF CL E G H2186529962ORPHA114803581601819
HP:0008551HP:0008551Microtia0CDC45 CL E G H8318617063Meier-gorlin syndrome 7617063C4310738OMIM1193981739603465
HP:0008551HP:0008551Microtia0CDC6 CL E G H990613805Meier-Gorlin syndrome 5613805C3151126OMIM14581744602627
HP:0008551HP:0008551Microtia0CDT1 CL E G H81620613804Meier-Gorlin syndrome 4613804C3151120OMIM11215824576605525
HP:0008551HP:0008551Microtia0CHD7 CL E G H55636214800CHARGE association214800C0265354OMIM1884126620626608892
HP:0008551HP:0008551Microtia0CHST3 CL E G H9469245600Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects245600C3278404OMIM1392651971603799
HP:0008551HP:0008551Microtia0CHST3 CL E G H9469143095Spondyloepiphyseal dysplasia with congenital joint dislocations143095C1840471OMIM1392651971603799
HP:0008551HP:0008551Microtia0COG1 CL E G H9382611209COG1 congenital disorder of glycosylation611209C1970016OMIM131346545606973
HP:0008551HP:0008551Microtia0DACT1 CL E G H51339857Benign familial infantile epilepsyORPHA185017748607861
HP:0008551HP:0008551Microtia0DACT1 CL E G H51339617466Townes-Brocks syndrome 2617466C4479534OMIM185017748607861
HP:0008551HP:0008551Microtia0DCHS1 CL E G H8642601390601390601390OMIM12418013681603057
HP:0008551HP:0008551Microtia0DHODH CL E G H1723246Schisis associationORPHA1201252867126064
HP:0008551HP:0008551Microtia0EFTUD2 CL E G H934379113ORPHA110112430858603892
HP:0008551HP:0008551Microtia0EFTUD2 CL E G H9343610536Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate610536C1864652OMIM110112430858603892
HP:0008551HP:0008551Microtia0EYA1 CL E G H2138602588Branchiootic syndrome602588C1865143OMIM12212903519601653
HP:0008551HP:0008551Microtia0FAT4 CL E G H79633615546Van Maldergem syndrome 2615546C3809875OMIM13731723109612411
HP:0008551HP:0008551Microtia0FBXO11 CL E G H80204618089INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES618089CN252702OMIM1267713590607871
HP:0008551HP:0008551Microtia0FGF3 CL E G H224890024ORPHA120353681164950
HP:0008551HP:0008551Microtia0FGFR2 CL E G H2263794ORPHA11593363689176943
HP:0008551HP:0008551Microtia0FGFR2 CL E G H2263101400Saethre-Chotzen syndrome101400C0175699OMIM11593363689176943
HP:0008551HP:0008551Microtia0FGFR3 CL E G H2261794ORPHA1774313690134934
HP:0008551HP:0008551Microtia0FKRP CL E G H79147236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM114140217997606596
HP:0008551HP:0008551Microtia0FKTN CL E G H2218236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM1594503622607440
HP:0008551HP:0008551Microtia0GATA1 CL E G H2623190685Complete trisomy 21 syndrome190685C0013080OMIM1152354170305371
HP:0008551HP:0008551Microtia0GBA CL E G H2629608013Gaucher disease, perinatal lethal608013C1842704OMIM14942064177606463
HP:0008551HP:0008551Microtia0GLI3 CL E G H2737672Angiofollicular ganglionic hyperplasiaORPHA12445374319165240
HP:0008551HP:0008551Microtia0HDAC8 CL E G H558693459ORPHA15622713315300269
HP:0008551HP:0008551Microtia0HNRNPK CL E G H3190616580AU-KLINE SYNDROME616580C4225274OMIM115715044600712
HP:0008551HP:0008551Microtia0HOXA2 CL E G H3199612290Microtia, hearing impairment, and cleft palate612290C2676772OMIM15775103604685
HP:0008551HP:0008551Microtia0INTU CL E G H27152617925SHORT-RIB THORACIC DYSPLASIA 20 WITH POLYDACTYLY617925CN902090OMIM1123229239610621
HP:0008551HP:0008551Microtia0ISPD CL E G H729920614643Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7614643C3553330OMIM147537276614631
HP:0008551HP:0008551Microtia0KCTD1 CL E G H2842522036ORPHA1114918249613420
HP:0008551HP:0008551Microtia0KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM1114918249613420
HP:0008551HP:0008551Microtia0LARGE1 CL E G H9215236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM1284066511603590
HP:0008551HP:0008551Microtia0LAS1L CL E G H818873459ORPHA1417225726300964
HP:0008551HP:0008551Microtia0LETM1 CL E G H3954280Halal Setton Wang syndromeORPHA141756556604407
HP:0008551HP:0008551Microtia0LMBRD1 CL E G H55788277380METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE277380C1848578OMIM1910423038612625
HP:0008551HP:0008551Microtia0MAPRE2 CL E G H10982616734Skin creases, congenital symmetric circumferential, 2616734C4225225OMIM14606891605789
HP:0008551HP:0008551Microtia0MBD5 CL E G H55777156200Mental retardation, autosomal dominant 1156200C1969562OMIM19166420444611472
HP:0008551HP:0008551Microtia0MCM5 CL E G H4174617564MEIER-GORLIN SYNDROME 8617564C4479655OMIM13316948602696
HP:0008551HP:0008551Microtia0MSX2 CL E G H4488168550Parietal foramina with cleidocranial dysplasia168550C1868597OMIM1261057392123101
HP:0008551HP:0008551Microtia0NELFA CL E G H7469280Halal Setton Wang syndromeORPHA1416712768606026
HP:0008551HP:0008551Microtia0NIN CL E G H51199614851Seckel syndrome 7614851C3553870OMIM1813314906608684
HP:0008551HP:0008551Microtia0NSD2 CL E G H7468280Halal Setton Wang syndromeORPHA11422012766602952
HP:0008551HP:0008551Microtia0ORC1 CL E G H4998224690Meier-Gorlin syndrome 1224690CN030358OMIM1121038487601902
HP:0008551HP:0008551Microtia0ORC4 CL E G H5000613800Meier-Gorlin syndrome 2613800C3151097OMIM16878490603056
HP:0008551HP:0008551Microtia0ORC6 CL E G H23594613803Meier-Gorlin syndrome 3613803C3151113OMIM169017151607213
HP:0008551HP:0008551Microtia0PAM16 CL E G H51025613320Spondylometaphyseal dysplasia, megarbane-dagher-melki type613320C2750075OMIM124429679614336
HP:0008551HP:0008551Microtia0PBX1 CL E G H5087617641CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY617641C4539968OMIM131388632176310
HP:0008551HP:0008551Microtia0PCNT CL E G H5116210720Microcephalic osteodysplastic primordial dwarfism type 2210720C0432246OMIM18888516068605925
HP:0008551HP:0008551Microtia0PLEC CL E G H5339612138Epidermolysis bullosa simplex with pyloric atresia612138C2677349OMIM110427619069601282
HP:0008551HP:0008551Microtia0POC1A CL E G H25886614813Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis614813C3542022OMIM183624488614783
HP:0008551HP:0008551Microtia0POLR1A CL E G H25885616462Acrofacial dysostosis, Cincinnati type616462C4225317OMIM159317264616404
HP:0008551HP:0008551Microtia0POLR1C CL E G H9533861ORPHA1219220194610060
HP:0008551HP:0008551Microtia0POLR1C CL E G H9533248390Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive248390C1855433OMIM1219220194610060
HP:0008551HP:0008551Microtia0POLR1D CL E G H51082861ORPHA1264820422613715
HP:0008551HP:0008551Microtia0POLR1D CL E G H51082613717Treacher Collins syndrome 2613717C3150983OMIM1264820422613715
HP:0008551HP:0008551Microtia0POMT1 CL E G H10585236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM1965089202607423
HP:0008551HP:0008551Microtia0POMT2 CL E G H29954236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM17550219743607439
HP:0008551HP:0008551Microtia0PSMD12 CL E G H5718529962ORPHA110359557604450
HP:0008551HP:0008551Microtia0RBM10 CL E G H8241311900TARP syndrome311900C1839463OMIM1101979896300080
HP:0008551HP:0008551Microtia0RNU4ATAC CL E G H100151683210710Osteodysplastic primordial dwarfism, type 1210710C1859452OMIM1245634016601428
HP:0008551HP:0008551Microtia0RPS28 CL E G H6234606164Diamond-Blackfan anemia 15 with mandibulofacial dysostosis606164C1853576OMIM111010418603685
HP:0008551HP:0008551Microtia0RSPO2 CL E G H3404193301Lowry syndromeORPHA124128583610575
HP:0008551HP:0008551Microtia0RSPRY1 CL E G H89970616723Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type616723C4225232OMIM143929420616585
HP:0008551HP:0008551Microtia0SALL1 CL E G H6299857Benign familial infantile epilepsyORPHA18818210524602218
HP:0008551HP:0008551Microtia0SALL1 CL E G H6299107480Townes-Brocks syndrome 1107480CN034849OMIM18818210524602218
HP:0008551HP:0008551Microtia0SEMA3E CL E G H9723214800CHARGE association214800C0265354OMIM1416010727608166
HP:0008551HP:0008551Microtia0SF3B4 CL E G H10262245ORPHA1385810771605593
HP:0008551HP:0008551Microtia0SF3B4 CL E G H102621788ORPHA1385810771605593
HP:0008551HP:0008551Microtia0SMAD4 CL E G H4089139210Myhre syndrome139210C0796081OMIM114712576770600993
HP:0008551HP:0008551Microtia0TCOF1 CL E G H6949861ORPHA133325011654606847
HP:0008551HP:0008551Microtia0TFAP2A CL E G H7020113620Branchiooculofacial syndrome113620C0376524OMIM1448211742107580
HP:0008551HP:0008551Microtia0TP63 CL E G H8626604292Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3604292C1858562OMIM112828215979603273
HP:0008551HP:0008551Microtia0TSR2 CL E G H90121300946Diamond-Blackfan anemia 14 with mandibulofacial dysostosis300946C4225422OMIM1214925455300945
HP:0008551HP:0008551Microtia0TTC37 CL E G H9652222470Trichohepatoenteric syndrome 1222470CN034858OMIM16412823639614589
HP:0008551HP:0008551Microtia0TWIST1 CL E G H7291794ORPHA120911512428601622
HP:0008551HP:0008551Microtia0TWIST1 CL E G H7291101400Saethre-Chotzen syndrome101400C0175699OMIM120911512428601622
HP:0008551HP:0008551Microtia0TWIST1 CL E G H7291617746SWEENEY-COX SYNDROME617746C4540299OMIM120911512428601622
HP:0008551HP:0008551Microtia0TWIST2 CL E G H117581920Bone dysplasia Azouz typeORPHA198820670607556
HP:0008551HP:0008551Microtia0WNT3 CL E G H74733301Lowry syndromeORPHA122212782165330
HP:0008551HP:0008551Microtia1ABHD5 CL E G H51099275630Triglyceride storage disease with ichthyosis275630C0268238OMIM13915521396604780
HP:0008551HP:0008551Microtia1AGA CL E G H17593ORPHA138239318613228
HP:0008551HP:0008551Microtia1AMER1 CL E G H139285300373Osteopathia striata with cranial sclerosis300373C0432268OMIM14121926837300647
HP:0008551HP:0008551Microtia1ATRX CL E G H546301040ATR-X syndrome301040C1845055OMIM1170663886300032
HP:0008551HP:0008551Microtia1ATRX CL E G H546309580Mental retardation-hypotonic facies syndrome X-linked, 1309580C0796003OMIM1170663886300032
HP:0008551HP:0008551Microtia1B3GAT3 CL E G H26229245600Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects245600C3278404OMIM11343923606374
HP:0008551HP:0008551Microtia1BPTF CL E G H2186529962ORPHA114803581601819
HP:0008551HP:0008551Microtia1CDC45 CL E G H8318617063Meier-gorlin syndrome 7617063C4310738OMIM1193981739603465
HP:0008551HP:0008551Microtia1CDC6 CL E G H990613805Meier-Gorlin syndrome 5613805C3151126OMIM14581744602627
HP:0008551HP:0008551Microtia1CDT1 CL E G H81620613804Meier-Gorlin syndrome 4613804C3151120OMIM11215824576605525
HP:0008551HP:0008551Microtia1CHD7 CL E G H55636214800CHARGE association214800C0265354OMIM1884126620626608892
HP:0008551HP:0008551Microtia1CHST3 CL E G H9469245600Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects245600C3278404OMIM1392651971603799
HP:0008551HP:0008551Microtia1CHST3 CL E G H9469143095Spondyloepiphyseal dysplasia with congenital joint dislocations143095C1840471OMIM1392651971603799
HP:0008551HP:0008551Microtia1COG1 CL E G H9382611209COG1 congenital disorder of glycosylation611209C1970016OMIM131346545606973
HP:0008551HP:0008551Microtia1DACT1 CL E G H51339857Benign familial infantile epilepsyORPHA185017748607861
HP:0008551HP:0008551Microtia1DACT1 CL E G H51339617466Townes-Brocks syndrome 2617466C4479534OMIM185017748607861
HP:0008551HP:0008551Microtia1DCHS1 CL E G H8642601390601390601390OMIM12418013681603057
HP:0008551HP:0008551Microtia1DHODH CL E G H1723246Schisis associationORPHA1201252867126064
HP:0008551HP:0008551Microtia1EFTUD2 CL E G H934379113ORPHA110112430858603892
HP:0008551HP:0008551Microtia1EFTUD2 CL E G H9343610536Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate610536C1864652OMIM110112430858603892
HP:0008551HP:0008551Microtia1EYA1 CL E G H2138602588Branchiootic syndrome602588C1865143OMIM12212903519601653
HP:0008551HP:0008551Microtia1FAT4 CL E G H79633615546Van Maldergem syndrome 2615546C3809875OMIM13731723109612411
HP:0008551HP:0008551Microtia1FBXO11 CL E G H80204618089INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES618089CN252702OMIM1267713590607871
HP:0008551HP:0008551Microtia1FGF3 CL E G H224890024ORPHA120353681164950
HP:0008551HP:0008551Microtia1FGFR2 CL E G H2263794ORPHA11593363689176943
HP:0008551HP:0008551Microtia1FGFR2 CL E G H2263101400Saethre-Chotzen syndrome101400C0175699OMIM11593363689176943
HP:0008551HP:0008551Microtia1FGFR3 CL E G H2261794ORPHA1774313690134934
HP:0008551HP:0008551Microtia1FKRP CL E G H79147236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM114140217997606596
HP:0008551HP:0008551Microtia1FKTN CL E G H2218236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM1594503622607440
HP:0008551HP:0008551Microtia1GATA1 CL E G H2623190685Complete trisomy 21 syndrome190685C0013080OMIM1152354170305371
HP:0008551HP:0008551Microtia1GBA CL E G H2629608013Gaucher disease, perinatal lethal608013C1842704OMIM14942064177606463
HP:0008551HP:0008551Microtia1GLI3 CL E G H2737672Angiofollicular ganglionic hyperplasiaORPHA12445374319165240
HP:0008551HP:0008551Microtia1HDAC8 CL E G H558693459ORPHA15622713315300269
HP:0008551HP:0008551Microtia1HNRNPK CL E G H3190616580AU-KLINE SYNDROME616580C4225274OMIM115715044600712
HP:0008551HP:0008551Microtia1HOXA2 CL E G H3199612290Microtia, hearing impairment, and cleft palate612290C2676772OMIM15775103604685
HP:0008551HP:0008551Microtia1INTU CL E G H27152617925SHORT-RIB THORACIC DYSPLASIA 20 WITH POLYDACTYLY617925CN902090OMIM1123229239610621
HP:0008551HP:0008551Microtia1ISPD CL E G H729920614643Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7614643C3553330OMIM147537276614631
HP:0008551HP:0008551Microtia1KCTD1 CL E G H2842522036ORPHA1114918249613420
HP:0008551HP:0008551Microtia1KCTD1 CL E G H284252181270Scalp ear nipple syndrome181270C1867020OMIM1114918249613420
HP:0008551HP:0008551Microtia1LARGE1 CL E G H9215236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM1284066511603590
HP:0008551HP:0008551Microtia1LAS1L CL E G H818873459ORPHA1417225726300964
HP:0008551HP:0008551Microtia1LETM1 CL E G H3954280Halal Setton Wang syndromeORPHA141756556604407
HP:0008551HP:0008551Microtia1LMBRD1 CL E G H55788277380METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE277380C1848578OMIM1910423038612625
HP:0008551HP:0008551Microtia1MAPRE2 CL E G H10982616734Skin creases, congenital symmetric circumferential, 2616734C4225225OMIM14606891605789
HP:0008551HP:0008551Microtia1MBD5 CL E G H55777156200Mental retardation, autosomal dominant 1156200C1969562OMIM19166420444611472
HP:0008551HP:0008551Microtia1MCM5 CL E G H4174617564MEIER-GORLIN SYNDROME 8617564C4479655OMIM13316948602696
HP:0008551HP:0008551Microtia1MSX2 CL E G H4488168550Parietal foramina with cleidocranial dysplasia168550C1868597OMIM1261057392123101
HP:0008551HP:0008551Microtia1NELFA CL E G H7469280Halal Setton Wang syndromeORPHA1416712768606026
HP:0008551HP:0008551Microtia1NIN CL E G H51199614851Seckel syndrome 7614851C3553870OMIM1813314906608684
HP:0008551HP:0008551Microtia1NSD2 CL E G H7468280Halal Setton Wang syndromeORPHA11422012766602952
HP:0008551HP:0008551Microtia1ORC1 CL E G H4998224690Meier-Gorlin syndrome 1224690CN030358OMIM1121038487601902
HP:0008551HP:0008551Microtia1ORC4 CL E G H5000613800Meier-Gorlin syndrome 2613800C3151097OMIM16878490603056
HP:0008551HP:0008551Microtia1ORC6 CL E G H23594613803Meier-Gorlin syndrome 3613803C3151113OMIM169017151607213
HP:0008551HP:0008551Microtia1PAM16 CL E G H51025613320Spondylometaphyseal dysplasia, megarbane-dagher-melki type613320C2750075OMIM124429679614336
HP:0008551HP:0008551Microtia1PBX1 CL E G H5087617641CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY617641C4539968OMIM131388632176310
HP:0008551HP:0008551Microtia1PCNT CL E G H5116210720Microcephalic osteodysplastic primordial dwarfism type 2210720C0432246OMIM18888516068605925
HP:0008551HP:0008551Microtia1PLEC CL E G H5339612138Epidermolysis bullosa simplex with pyloric atresia612138C2677349OMIM110427619069601282
HP:0008551HP:0008551Microtia1POC1A CL E G H25886614813Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis614813C3542022OMIM183624488614783
HP:0008551HP:0008551Microtia1POLR1A CL E G H25885616462Acrofacial dysostosis, Cincinnati type616462C4225317OMIM159317264616404
HP:0008551HP:0008551Microtia1POLR1C CL E G H9533861ORPHA1219220194610060
HP:0008551HP:0008551Microtia1POLR1C CL E G H9533248390Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive248390C1855433OMIM1219220194610060
HP:0008551HP:0008551Microtia1POLR1D CL E G H51082861ORPHA1264820422613715
HP:0008551HP:0008551Microtia1POLR1D CL E G H51082613717Treacher Collins syndrome 2613717C3150983OMIM1264820422613715
HP:0008551HP:0008551Microtia1POMT1 CL E G H10585236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM1965089202607423
HP:0008551HP:0008551Microtia1POMT2 CL E G H29954236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM17550219743607439
HP:0008551HP:0008551Microtia1PSMD12 CL E G H5718529962ORPHA110359557604450
HP:0008551HP:0008551Microtia1RBM10 CL E G H8241311900TARP syndrome311900C1839463OMIM1101979896300080
HP:0008551HP:0008551Microtia1RNU4ATAC CL E G H100151683210710Osteodysplastic primordial dwarfism, type 1210710C1859452OMIM1245634016601428
HP:0008551HP:0008551Microtia1RPS28 CL E G H6234606164Diamond-Blackfan anemia 15 with mandibulofacial dysostosis606164C1853576OMIM111010418603685
HP:0008551HP:0008551Microtia1RSPO2 CL E G H3404193301Lowry syndromeORPHA124128583610575
HP:0008551HP:0008551Microtia1RSPRY1 CL E G H89970616723Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type616723C4225232OMIM143929420616585
HP:0008551HP:0008551Microtia1SALL1 CL E G H6299857Benign familial infantile epilepsyORPHA18818210524602218
HP:0008551HP:0008551Microtia1SALL1 CL E G H6299107480Townes-Brocks syndrome 1107480CN034849OMIM18818210524602218
HP:0008551HP:0008551Microtia1SEMA3E CL E G H9723214800CHARGE association214800C0265354OMIM1416010727608166
HP:0008551HP:0008551Microtia1SF3B4 CL E G H10262245ORPHA1385810771605593
HP:0008551HP:0008551Microtia1SF3B4 CL E G H102621788ORPHA1385810771605593
HP:0008551HP:0008551Microtia1SMAD4 CL E G H4089139210Myhre syndrome139210C0796081OMIM114712576770600993
HP:0008551HP:0008551Microtia1TCOF1 CL E G H6949861ORPHA133325011654606847
HP:0008551HP:0008551Microtia1TFAP2A CL E G H7020113620Branchiooculofacial syndrome113620C0376524OMIM1448211742107580
HP:0008551HP:0008551Microtia1TP63 CL E G H8626604292Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3604292C1858562OMIM112828215979603273
HP:0008551HP:0008551Microtia1TSR2 CL E G H90121300946Diamond-Blackfan anemia 14 with mandibulofacial dysostosis300946C4225422OMIM1214925455300945
HP:0008551HP:0008551Microtia1TTC37 CL E G H9652222470Trichohepatoenteric syndrome 1222470CN034858OMIM16412823639614589
HP:0008551HP:0008551Microtia1TWIST1 CL E G H7291794ORPHA120911512428601622
HP:0008551HP:0008551Microtia1TWIST1 CL E G H7291101400Saethre-Chotzen syndrome101400C0175699OMIM120911512428601622
HP:0008551HP:0008551Microtia1TWIST1 CL E G H7291617746SWEENEY-COX SYNDROME617746C4540299OMIM120911512428601622
HP:0008551HP:0008551Microtia1TWIST2 CL E G H117581920Bone dysplasia Azouz typeORPHA198820670607556
HP:0008551HP:0008551Microtia1WNT3 CL E G H74733301Lowry syndromeORPHA122212782165330
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0008551HP:0008551Microtia0BMP2 CL E G H650261295ORPHA037691069112261
HP:0008551HP:0008551Microtia0CHD7 CL E G H55636138ORPHA0884126620626608892
HP:0008551HP:0008551Microtia0EYA1 CL E G H2138113650Melnick-Fraser syndrome113650C0265234OMIM02212903519601653
HP:0008551HP:0008551Microtia0FANCL CL E G H55120614083Fanconi anemia, complementation group L614083C3469528OMIM02417620748608111
HP:0008551HP:0008551Microtia0FAT4 CL E G H79633616006Hennekam lymphangiectasia-lymphedema syndrome 2616006C4014939OMIM03731723109612411
HP:0008551HP:0008551Microtia0GABRD CL E G H25631606ORPHA072784084137163
HP:0008551HP:0008551Microtia0GLI3 CL E G H2737146510Pallister-Hall syndrome146510C0265220OMIM02445374319165240
HP:0008551HP:0008551Microtia0GMNN CL E G H51053616835Meier-gorlin syndrome 6616835C4225188OMIM032117493602842
HP:0008551HP:0008551Microtia0HOXA13 CL E G H32092438ORPHA030635102142959
HP:0008551HP:0008551Microtia0HSPA9 CL E G H3313616854Even-plus syndrome616854C4225180OMIM013435244600548
HP:0008551HP:0008551Microtia0KCNAB2 CL E G H85141606ORPHA05856229601142
HP:0008551HP:0008551Microtia0MAF CL E G H4094601088Ayme-gripp syndrome601088C1832812OMIM0221726776177075
HP:0008551HP:0008551Microtia0PIGN CL E G H23556280633Multiple congenital anomalies-hypotonia-seizures syndromeCN228166ORPHA0344168967606097
HP:0008551HP:0008551Microtia0PIK3CA CL E G H5290276280ORPHA0573798975171834
HP:0008551HP:0008551Microtia0PRDM16 CL E G H639761606ORPHA02167714000605557
HP:0008551HP:0008551Microtia0RERE CL E G H4731606ORPHA0251619965605226
HP:0008551HP:0008551Microtia0RPS26 CL E G H6231613309Diamond-Blackfan anemia 10613309C2750080OMIM0345110414603701
HP:0008551HP:0008551Microtia0SEMA3E CL E G H9723138ORPHA0416010727608166
HP:0008551HP:0008551Microtia0SIX1 CL E G H6495113650Melnick-Fraser syndrome113650C0265234OMIM02010210887601205
HP:0008551HP:0008551Microtia0SKI CL E G H64971606ORPHA02450210896164780
HP:0008551HP:0008551Microtia0TCOF1 CL E G H6949154500Treacher Collins syndrome 1154500CN119605OMIM033325011654606847
HP:0008551HP:0008551Microtia1BMP2 CL E G H650261295ORPHA037691069112261
HP:0008551HP:0008551Microtia1CHD7 CL E G H55636138ORPHA0884126620626608892
HP:0008551HP:0008551Microtia1EYA1 CL E G H2138113650Melnick-Fraser syndrome113650C0265234OMIM02212903519601653
HP:0008551HP:0008551Microtia1FANCL CL E G H55120614083Fanconi anemia, complementation group L614083C3469528OMIM02417620748608111
HP:0008551HP:0008551Microtia1FAT4 CL E G H79633616006Hennekam lymphangiectasia-lymphedema syndrome 2616006C4014939OMIM03731723109612411
HP:0008551HP:0008551Microtia1GABRD CL E G H25631606ORPHA072784084137163
HP:0008551HP:0008551Microtia1GLI3 CL E G H2737146510Pallister-Hall syndrome146510C0265220OMIM02445374319165240
HP:0008551HP:0008551Microtia1GMNN CL E G H51053616835Meier-gorlin syndrome 6616835C4225188OMIM032117493602842
HP:0008551HP:0008551Microtia1HOXA13 CL E G H32092438ORPHA030635102142959
HP:0008551HP:0008551Microtia1HSPA9 CL E G H3313616854Even-plus syndrome616854C4225180OMIM013435244600548
HP:0008551HP:0008551Microtia1KCNAB2 CL E G H85141606ORPHA05856229601142
HP:0008551HP:0008551Microtia1MAF CL E G H4094601088Ayme-gripp syndrome601088C1832812OMIM0221726776177075
HP:0008551HP:0008551Microtia1PIGN CL E G H23556280633Multiple congenital anomalies-hypotonia-seizures syndromeCN228166ORPHA0344168967606097
HP:0008551HP:0008551Microtia1PIK3CA CL E G H5290276280ORPHA0573798975171834
HP:0008551HP:0008551Microtia1PRDM16 CL E G H639761606ORPHA02167714000605557
HP:0008551HP:0008551Microtia1RERE CL E G H4731606ORPHA0251619965605226
HP:0008551HP:0008551Microtia1RPS26 CL E G H6231613309Diamond-Blackfan anemia 10613309C2750080OMIM0345110414603701
HP:0008551HP:0008551Microtia1SEMA3E CL E G H9723138ORPHA0416010727608166
HP:0008551HP:0008551Microtia1SIX1 CL E G H6495113650Melnick-Fraser syndrome113650C0265234OMIM02010210887601205
HP:0008551HP:0008551Microtia1SKI CL E G H64971606ORPHA02450210896164780
HP:0008551HP:0008551Microtia1TCOF1 CL E G H6949154500Treacher Collins syndrome 1154500CN119605OMIM033325011654606847


Genes (96) :ABHD5 AGA AMER1 ATRX B3GAT3 B3GLCT BMP2 BPTF CDC45 CDC6 CDT1 CHD7 CHST3 COG1 CRPPA DACT1 DCHS1 DHODH EFTUD2 EYA1 FANCB FANCL FAT4 FBXO11 FGF3 FGFR2 FGFR3 FKRP FKTN GABRD GATA1 GBA GLI3 GMNN HDAC8 HNRNPK HOXA13 HOXA2 HSPA9 INTU ISPD KCNAB2 KCTD1 LARGE1 LAS1L LETM1 LMBRD1 MAF MAPRE2 MBD5 MCM5 MED12 MSX2 NELFA NIN NSD2 ORC1 ORC4 ORC6 PAM16 PBX1 PCNT PIGN PIK3CA PLEC POC1A POLR1A POLR1C POLR1D POMT1 POMT2 PRDM16 PSMD12 RBM10 RERE RNU4ATAC RPS26 RPS28 RSPO2 RSPRY1 SALL1 SEMA3E SF3B4 SIX1 SKI SMAD4 TBX15 TCOF1 TCTN3 TFAP2A TP63 TSR2 TTC37 TWIST1 TWIST2 WNT3

Diseases (94) :275630 93 300373 301040 309580 245600 261295 529962 617063 613805 613804 138 214800 143095 611209 614643 857 617466 601390 246 79113 610536 602588 113650 614083 616006 615546 618089 90024 794 101400 236670 1606 190685 608013 672 146510 616835 3459 616580 2438 612290 616854 617925 2036 181270 280 277380 601088 616734 156200 617564 168550 614851 224690 613800 613803 613320 617641 210720 280633 276280 612138 614813 616462 861 248390 613717 311900 210710 613309 606164 3301 616723 107480 245 1788 139210 154500 113620 604292 300946 222470 617746 920 709 261540 2554 3412 610706 305450 260660 2753 200110
 

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