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
Parent Node:
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Aplasia/Hypoplasia of the ear (HP:0008771)help
..Starting node
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Aplasia/Hypoplasia of the external ear (HP:0008772)help
Term ID: 8772
Name: Aplasia/Hypoplasia of the external ear
Synonym: Absent/small external ear; Absent/underdeveloped external ear
Definition: The presence of aplasia or developmental hypoplasia of all or part of the external ear.
Comments:
Reference: HP:0008772
Genes and Diseases:
 
       Child Nodes:
........expandMicrotia (HP:0008551) help
................... HP:0008569 Microtia, second degree
................... HP:0011266 Microtia, first degree
................... HP:0011267 Microtia, third degree
........expandAnotia (HP:0009892) help
........expandFocal absence of the external ear (HP:0400003) help

 Sister Nodes: 
..expandAplasia/Hypoplasia of the inner ear (HP:0008774) help
..expandAplasia/Hypoplasia of the middle ear (HP:0008773) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0ABHD5 CL E G H5109921396OMIM:275630Chanarin-Dorfman syndrome90
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0ADA2 CL E G H518161839ORPHA:124Blackfan-Diamond anemia22
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0ADNP CL E G H2339415766ORPHA:404448ADNP syndrome47
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0AGA CL E G H175318ORPHA:93Aspartylglucosaminuria76
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0AMER1 CL E G H13928526837OMIM:300373Osteopathia striata with cranial sclerosis34
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0ATRX CL E G H546886OMIM:301040Alpha-Thalassemia/mental retardation syndrome, X-linked169
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0ATRX CL E G H546886OMIM:309580Mental retardation-hypotonic facies syndrome, X-linked, 1169
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0B3GAT3 CL E G H26229923OMIM:245600Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects5
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0B3GLCT CL E G H14517320207ORPHA:709Peters plus syndrome36
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0B3GLCT CL E G H14517320207OMIM:261540Peters-Plus syndrome36
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0BMP2 CL E G H6501069ORPHA:26129520p12.3 microdeletion syndrome13
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0BPTF CL E G H21863581ORPHA:52996217q24.2 microdeletion syndrome2
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0CASZ1 CL E G H5489726002ORPHA:16061p36 deletion syndrome3
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0CD96 CL E G H1022516892ORPHA:1308C syndrome83
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0CDC45 CL E G H83181739ORPHA:2554Ear-patella-short stature syndrome9
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0CDC45 CL E G H83181739OMIM:617063Meier-Gorlin syndrome 79
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0CDC6 CL E G H9901744ORPHA:2554Ear-patella-short stature syndrome31
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0CDC6 CL E G H9901744OMIM:613805Meier-Gorlin syndrome 531
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0CDT1 CL E G H8162024576ORPHA:2554Ear-patella-short stature syndrome50
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0CDT1 CL E G H8162024576OMIM:613804Meier-Gorlin syndrome 450
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0CENPJ CL E G H5583517272OMIM:608393Microcephaly, primary autosomal recessive, 6161
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0CHD5 CL E G H2603816816OMIM:619873
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0CHD7 CL E G H5563620626ORPHA:138CHARGE syndrome515
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0CHD7 CL E G H5563620626OMIM:214800Charge syndrome515
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0CHST3 CL E G H94691971OMIM:245600Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects165
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0CHST3 CL E G H94691971OMIM:143095Spondyloepiphyseal dysplasia with congenital joint dislocations165
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0CNOT1 CL E G H230197877OMIM:618500Holoprosencephaly 12 with or without pancreatic agenesis2
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0COG1 CL E G H93826545ORPHA:263508COG1-CDG52
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0COG1 CL E G H93826545OMIM:611209Congenital disorder of glycosylation, type IIg52
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0CPLX1 CL E G H108152309ORPHA:280Wolf-Hirschhorn syndrome1
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0CRPPA CL E G H72992037276OMIM:614643Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0CTBP1 CL E G H14872494ORPHA:280Wolf-Hirschhorn syndrome2
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0DACT1 CL E G H5133917748ORPHA:857Townes-Brocks syndrome2
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0DACT1 CL E G H5133917748OMIM:617466Townes-Brocks syndrome 22
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0DCHS1 CL E G H864213681ORPHA:314679Cerebrofacioarticular syndrome27
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0DCHS1 CL E G H864213681OMIM:601390Van maldergem syndrome 127
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0DDR2 CL E G H49212731OMIM:618175WARBURG-CINOTTI SYNDROME; WRCN45
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0DHODH CL E G H17232867ORPHA:246Postaxial acrofacial dysostosis59
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0DLK1 CL E G H87882907ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 141
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0EDN1 CL E G H19063176ORPHA:137888Auriculocondylar syndromeHP:0040282 - Frequent6
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0EDNRA CL E G H19093179OMIM:616367Mandibulofacial dysostosis with alopecia3
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0EFTUD2 CL E G H934330858OMIM:610536Mandibulofacial dysostosis, Guion-Almeida type48
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0EFTUD2 CL E G H934330858ORPHA:79113Mandibulofacial dysostosis-microcephaly syndrome48
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0EIF5A CL E G H19843300OMIM:619376FAUNDES-BANKA SYNDROME; FABAS
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0EYA1 CL E G H21383519OMIM:602588Branchiootic syndrome 1135
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0EYA1 CL E G H21383519OMIM:113650Branchiootorenal syndrome 1135
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0FANCB CL E G H21873583ORPHA:3412VACTERL with hydrocephalus58
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0FANCF CL E G H21883587OMIM:603467FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF87
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0FANCL CL E G H5512020748OMIM:614083Fanconi anemia, complementation group L53
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0FAT4 CL E G H7963323109ORPHA:314679Cerebrofacioarticular syndrome114
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0FAT4 CL E G H7963323109OMIM:616006HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2; HKLLS2114
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0FAT4 CL E G H7963323109OMIM:615546Van maldergem syndrome 2114
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0FBXO11 CL E G H8020413590OMIM:618089Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities7
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0FGF10 CL E G H22553666ORPHA:2363Lacrimoauriculodentodigital syndrome17
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0FGF3 CL E G H22483681ORPHA:90024Deafness with labyrinthine aplasia, microtia, and microdontia18
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0FGF3 CL E G H22483681OMIM:610706Deafness, congenital, with inner ear agenesis, microtia, and microdontia18
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0FGFR2 CL E G H22633689ORPHA:2363Lacrimoauriculodentodigital syndrome175
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0FGFR2 CL E G H22633689ORPHA:794Saethre-Chotzen syndrome175
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0FGFR2 CL E G H22633689OMIM:101400Saethre-Chotzen syndrome175
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0FGFR3 CL E G H22613690ORPHA:2363Lacrimoauriculodentodigital syndrome145
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0FGFR3 CL E G H22613690ORPHA:794Saethre-Chotzen syndrome145
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0FIG4 CL E G H989616873OMIM:216340Yunis-Varon syndrome111
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0FKRP CL E G H7914717997OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1157
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0FKTN CL E G H22183622OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1184
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0GABRD CL E G H25634084ORPHA:16061p36 deletion syndrome10
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0GATA1 CL E G H26234170ORPHA:124Blackfan-Diamond anemia29
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0GATA1 CL E G H26234170OMIM:190685Down syndrometrisomy 21, included29
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0GBA1 CL E G H26294177OMIM:608013Gaucher disease, perinatal lethal
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0GLI3 CL E G H27374319ORPHA:672Pallister-Hall syndrome270
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0GLI3 CL E G H27374319OMIM:146510Pallister-Hall syndrome270
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0GMNN CL E G H5105317493ORPHA:2554Ear-patella-short stature syndrome3
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0GMNN CL E G H5105317493OMIM:616835Meier-Gorlin syndrome 63
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0GNAI3 CL E G H27734387ORPHA:137888Auriculocondylar syndromeHP:0040282 - Frequent2
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0HDAC8 CL E G H5586913315ORPHA:3459Wilson-Turner syndrome37
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0HIVEP2 CL E G H30974921OMIM:616977Mental retardation, autosomal dominant 4313
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0HNRNPK CL E G H31905044OMIM:616580Au-Kline syndrome8
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0HOXA13 CL E G H32095102ORPHA:2438Hand-foot-genital syndrome11
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0HOXA2 CL E G H31995103ORPHA:83463Microtia21
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0HOXA2 CL E G H31995103OMIM:612290MICROTIA, HEARING IMPAIRMENT, AND CLEFT PALATE21
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0HS6ST2 CL E G H9016119133OMIM:301025Paganini-Miozzo syndrome
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0HSPA9 CL E G H33135244OMIM:616854Even-Plus syndrome6
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0HSPG2 CL E G H33395273ORPHA:16061p36 deletion syndrome345
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0INTU CL E G H2715229239OMIM:617925Short-Rib thoracic dysplasia 20 with polydactyly
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0ITGA6 CL E G H36556142OMIM:619817EPIDERMOLYSIS BULLOSA, JUNCTIONAL 6, WITH PYLORIC ATRESIA; JEB679
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0ITGB4 CL E G H36916158ORPHA:158684Epidermolysis bullosa simplex with pyloric atresia124
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0KCNAB2 CL E G H85146229ORPHA:16061p36 deletion syndrome1
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0KCTD1 CL E G H28425218249OMIM:181270Scalp-Ear-Nipple syndrome11
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0KCTD1 CL E G H28425218249ORPHA:2036Scalp-ear-nipple syndrome11
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0KIF15 CL E G H5699217273ORPHA:26132321q22.11q22.12 microdeletion syndrome
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0LAGE3 CL E G H827026058ORPHA:2065Galloway-Mowat syndrome
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0LARGE1 CL E G H92156511OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1136
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0LAS1L CL E G H8188725726ORPHA:3459Wilson-Turner syndrome8
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0LETM1 CL E G H39546556ORPHA:280Wolf-Hirschhorn syndrome2
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0LMBRD1 CL E G H5578823038OMIM:277380Methylmalonic aciduria and homocystinuria, Cblf type46
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0LUZP1 CL E G H779814985ORPHA:16061p36 deletion syndrome
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0MAF CL E G H40946776ORPHA:1272Aymé-Gripp syndrome21
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0MAF CL E G H40946776OMIM:601088Ayme-Gripp syndrome21
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0MAN2C1 CL E G H41236827OMIM:619775CONGENITAL DISORDER OF DEGLYCOSYLATION 2; CDDG2
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0MAP1B CL E G H41316836OMIM:618918PERIVENTRICULAR NODULAR HETEROTOPIA 9; PVNH9
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0MAPRE2 CL E G H109826891OMIM:616734Skin creases, congenital symmetric circumferential, 24
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0MBD5 CL E G H5577720444OMIM:156200Mental retardation, autosomal dominant 1252
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0MCM5 CL E G H41746948OMIM:617564Meier-Gorlin syndrome 82
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0MED12 CL E G H996811957ORPHA:93932FG syndrome type 1228
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0MED12 CL E G H996811957OMIM:300895Ohdo syndrome, X-linked228
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0MED12 CL E G H996811957OMIM:305450Opitz-Kaveggia syndrome228
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0MEG3 CL E G H5538414575ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 141
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0MMP23B CL E G H85107171ORPHA:16061p36 deletion syndrome
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0MSX2 CL E G H44887392OMIM:168550Parietal foramina with cleidocranial dysplasia45
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0NELFA CL E G H746912768ORPHA:280Wolf-Hirschhorn syndrome
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0NFIX CL E G H47847788ORPHA:44798019p13.3 microduplication syndrome40
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0NIN CL E G H5119914906ORPHA:319675Microcephalic primordial dwarfism, Dauber type55
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0NIN CL E G H5119914906OMIM:614851Seckel syndrome 755
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0NSD2 CL E G H746812766ORPHA:280Wolf-Hirschhorn syndrome118
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0NUP107 CL E G H5712229914ORPHA:2065Galloway-Mowat syndrome5
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0NUP133 CL E G H5574618016ORPHA:2065Galloway-Mowat syndrome1
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0ORC1 CL E G H49988487ORPHA:2554Ear-patella-short stature syndrome53
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0ORC1 CL E G H49988487OMIM:224690Meier-Gorlin syndrome 153
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0ORC4 CL E G H50008490ORPHA:2554Ear-patella-short stature syndrome21
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0ORC4 CL E G H50008490OMIM:613800Meier-Gorlin syndrome 221
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0ORC6 CL E G H2359417151ORPHA:2554Ear-patella-short stature syndrome39
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0ORC6 CL E G H2359417151OMIM:613803Meier-Gorlin syndrome 339
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0OSGEP CL E G H5564418028ORPHA:2065Galloway-Mowat syndrome
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0OTUD6B CL E G H5163324281ORPHA:505237Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndromeHP:0040283 - Occasional4
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0PAK1 CL E G H50588590OMIM:618158Intellectual developmental disorder with macrocephaly, seizures, and speech delay
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0PAM16 CL E G H5102529679OMIM:613320Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type1
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0PBX1 CL E G H50878632OMIM:617641Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay3
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0PCGF2 CL E G H770312929OMIM:618371Turnpenny-Fry syndrome
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0PCNT CL E G H511616068OMIM:210720Microcephalic osteodysplastic primordial dwarfism, type II531
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0PDPN CL E G H1063029602ORPHA:16061p36 deletion syndrome
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0PIGG CL E G H5487225985ORPHA:280Wolf-Hirschhorn syndrome7
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0PIGN CL E G H235568967ORPHA:280633Multiple congenital anomalies-hypotonia-seizures syndrome37
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0PIK3CA CL E G H52908975ORPHA:276280Hemihyperplasia-multiple lipomatosis syndrome162
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0PLCB4 CL E G H53329059ORPHA:137888Auriculocondylar syndromeHP:0040282 - Frequent82
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0PLEC CL E G H53399069OMIM:612138Epidermolysis bullosa simplex with pyloric atresia759
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0PLEC CL E G H53399069ORPHA:158684Epidermolysis bullosa simplex with pyloric atresia759
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0POC1A CL E G H2588624488OMIM:614813Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis10
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0POLA1 CL E G H54229173OMIM:301030Van esch-o'driscoll syndrome2
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0POLA1 CL E G H54229173ORPHA:163976X-linked intellectual disability, Van Esch type2
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0POLE CL E G H54269177OMIM:618336Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency1129
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0POLR1A CL E G H2588517264OMIM:616462Acrofacial dysostosis, Cincinnati type8
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0POLR1B CL E G H8417220454ORPHA:861Treacher-Collins syndrome
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0POLR1C CL E G H953320194OMIM:248390Treacher collins syndrome 338
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0POLR1C CL E G H953320194ORPHA:861Treacher-Collins syndrome38
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0POLR1D CL E G H5108220422OMIM:613717Treacher collins syndrome 231
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0POLR1D CL E G H5108220422ORPHA:861Treacher-Collins syndrome31
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0POMT1 CL E G H105859202OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1213
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0POMT2 CL E G H2995419743OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1221
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0PRDM16 CL E G H6397614000ORPHA:16061p36 deletion syndrome148
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0PRIM1 CL E G H55579369OMIM:620005
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0PRKCZ CL E G H55909412ORPHA:16061p36 deletion syndrome
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0PSMD12 CL E G H57189557ORPHA:52996217q24.2 microdeletion syndrome4
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0RBM10 CL E G H82419896OMIM:311900Tarp syndrome16
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0RERE CL E G H4739965ORPHA:16061p36 deletion syndrome16
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0RIC1 CL E G H5758917686OMIM:618761CATIFA SYNDROME; CATIFA
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0RIPK4 CL E G H54101496OMIM:263650Popliteal pterygium syndrome, Bartsocas-Papas type 169
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0RNU4ATAC CL E G H10015168334016OMIM:210710Microcephalic osteodysplastic primordial dwarfism, type I15
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0RPL11 CL E G H613510301ORPHA:124Blackfan-Diamond anemia22
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0RPL15 CL E G H613810306ORPHA:124Blackfan-Diamond anemia3
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0RPL18 CL E G H614110310ORPHA:124Blackfan-Diamond anemia
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0RPL26 CL E G H615410327ORPHA:124Blackfan-Diamond anemia3
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0RPL27 CL E G H615510328ORPHA:124Blackfan-Diamond anemia1
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0RPL31 CL E G H616010334ORPHA:124Blackfan-Diamond anemia
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0RPL35 CL E G H1122410344ORPHA:124Blackfan-Diamond anemia
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0RPL35A CL E G H616510345ORPHA:124Blackfan-Diamond anemia11
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0RPL5 CL E G H612510360ORPHA:124Blackfan-Diamond anemia40
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0RPS10 CL E G H620410383ORPHA:124Blackfan-Diamond anemia26
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0RPS15A CL E G H621010389ORPHA:124Blackfan-Diamond anemia
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0RPS17 CL E G H621810397ORPHA:124Blackfan-Diamond anemia5
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0RPS19 CL E G H622310402ORPHA:124Blackfan-Diamond anemia42
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0RPS20 CL E G H622410405ORPHA:124Blackfan-Diamond anemia1
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0RPS24 CL E G H622910411ORPHA:124Blackfan-Diamond anemia22
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0RPS26 CL E G H623110414ORPHA:124Blackfan-Diamond anemia20
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0RPS26 CL E G H623110414OMIM:613309Diamond-blackfan anemia 1020
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0RPS27 CL E G H623210416ORPHA:124Blackfan-Diamond anemia1
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0RPS28 CL E G H623410418ORPHA:124Blackfan-Diamond anemia1
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0RPS28 CL E G H623410418OMIM:606164Diamond-Blackfan anemia 15 with mandibulofacial dysostosis1
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0RPS29 CL E G H623510419ORPHA:124Blackfan-Diamond anemia3
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0RPS7 CL E G H620110440ORPHA:124Blackfan-Diamond anemia20
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0RSPO2 CL E G H34041928583ORPHA:3301Tetraamelia-multiple malformations syndrome
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0RSPRY1 CL E G H8997029420OMIM:616723Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type2
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0RTL1 CL E G H38801514665ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0SALL1 CL E G H629910524ORPHA:857Townes-Brocks syndrome124
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0SALL1 CL E G H629910524OMIM:107480Townes-Brocks syndrome 1124
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0SEMA3E CL E G H972310727ORPHA:138CHARGE syndrome16
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0SETD1A CL E G H973929010OMIM:619056NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND DYSMORPHIC FACIES; NEDSID6
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0SF3B2 CL E G H1099210769OMIM:164210Hemifacial microsomia2
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0SF3B4 CL E G H1026210771ORPHA:1788Acrofacial dysostosis, Rodríguez type49
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0SF3B4 CL E G H1026210771ORPHA:245Nager syndrome49
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0SIAH1 CL E G H647710857OMIM:619314BURATTI-HAREL SYNDROME; BURHAS
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0SIM1 CL E G H649210882ORPHA:1718296q16 microdeletion syndrome40
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0SIX1 CL E G H649510887OMIM:113650Branchiootorenal syndrome 150
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0SKI CL E G H649710896ORPHA:16061p36 deletion syndrome150
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0SKIC3 CL E G H965223639OMIM:222470Trichohepatoenteric syndrome 1
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0SLC35C1 CL E G H5534320197ORPHA:99843Leukocyte adhesion deficiency type II71
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0SMAD4 CL E G H40896770OMIM:139210Myhre syndrome504
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0SMARCA2 CL E G H659511098ORPHA:2728Blepharophimosis-intellectual disability syndrome, Ohdo type146
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0SPEN CL E G H2301317575ORPHA:16061p36 deletion syndrome4
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0SPOP CL E G H840511254OMIM:618829NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS216
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0STAG2 CL E G H1073511355OMIM:301043HOLOPROSENCEPHALY 13, X-LINKED; HPE131
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0STAG2 CL E G H1073511355OMIM:301022Neurodevelopmental disorder, X-linked, with craniofacial abnormalities1
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0TBX15 CL E G H691311594OMIM:260660Cousin syndrome5
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0TCOF1 CL E G H694911654OMIM:154500Treacher collins-franceschetti syndrome140
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0TCOF1 CL E G H694911654ORPHA:861Treacher-Collins syndrome140
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0TCTN3 CL E G H2612324519ORPHA:2753Orofaciodigital syndrome type 431
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0TFAP2A CL E G H702011742OMIM:113620Branchiooculofacial syndrome12
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0TP53RK CL E G H11285816197ORPHA:2065Galloway-Mowat syndrome
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0TP63 CL E G H862615979OMIM:604292Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3140
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0TPRKB CL E G H5100224259ORPHA:2065Galloway-Mowat syndrome
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0TSR2 CL E G H9012125455ORPHA:124Blackfan-Diamond anemia1
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0TSR2 CL E G H9012125455OMIM:300946Diamond-Blackfan anemia 14 with mandibulofacial dysostosis1
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0TWIST1 CL E G H729112428ORPHA:794Saethre-Chotzen syndrome18
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0TWIST1 CL E G H729112428OMIM:101400Saethre-Chotzen syndrome18
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0TWIST1 CL E G H729112428OMIM:617746Sweeney-Cox syndrome18
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0TWIST2 CL E G H11758120670ORPHA:920Ablepharon macrostomia syndrome7
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0TWIST2 CL E G H11758120670OMIM:200110Ablepharon-Macrostomia syndrome7
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0TWIST2 CL E G H11758120670OMIM:209885Barber-Say syndrome7
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0UBE4B CL E G H1027712500ORPHA:16061p36 deletion syndrome
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0WDR4 CL E G H1078512756ORPHA:2065Galloway-Mowat syndrome
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0WDR73 CL E G H8494225928ORPHA:2065Galloway-Mowat syndrome14
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0WNT3 CL E G H747312782ORPHA:3301Tetraamelia-multiple malformations syndrome12
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0ZMYM2 CL E G H775012989OMIM:619522NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0008772HP:0008772Aplasia/Hypoplasia of the external ear0ZNF462 CL E G H5849921684OMIM:618619WEISS-KRUSZKA SYNDROME; WSKA4
HP:0008772HP:0400003Focal absence of the external ear1 CL E G H
HP:0008772HP:0008551Microtia1ABHD5 CL E G H5109921396OMIM:275630Chanarin-Dorfman syndrome.90
HP:0008772HP:0008551Microtia1ADA2 CL E G H518161839ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare22
HP:0008772HP:0008551Microtia1ADNP CL E G H2339415766ORPHA:404448ADNP syndromeHP:0040283 - Occasional47
HP:0008772HP:0008551Microtia1AGA CL E G H175318ORPHA:93AspartylglucosaminuriaHP:0040281 - Very frequent76
HP:0008772HP:0008551Microtia1AMER1 CL E G H13928526837OMIM:300373Osteopathia striata with cranial sclerosis.34
HP:0008772HP:0008551Microtia1ATRX CL E G H546886OMIM:301040Alpha-Thalassemia/mental retardation syndrome, X-linked.169
HP:0008772HP:0008551Microtia1ATRX CL E G H546886OMIM:309580Mental retardation-hypotonic facies syndrome, X-linked, 1.169
HP:0008772HP:0008551Microtia1B3GAT3 CL E G H26229923OMIM:245600Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects.5
HP:0008772HP:0008551Microtia1B3GLCT CL E G H14517320207ORPHA:709Peters plus syndrome36
HP:0008772HP:0008551Microtia1B3GLCT CL E G H14517320207OMIM:261540Peters-Plus syndrome36
HP:0008772HP:0008551Microtia1BMP2 CL E G H6501069ORPHA:26129520p12.3 microdeletion syndromeHP:0040283 - Occasional13
HP:0008772HP:0008551Microtia1BPTF CL E G H21863581ORPHA:52996217q24.2 microdeletion syndromeHP:0040282 - Frequent2
HP:0008772HP:0008551Microtia1CASZ1 CL E G H5489726002ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional3
HP:0008772HP:0100720Hypoplasia of the ear cartilage1CD96 CL E G H1022516892ORPHA:1308C syndromeHP:0040281 - Very frequent83
HP:0008772HP:0008551Microtia1CDC45 CL E G H83181739ORPHA:2554Ear-patella-short stature syndrome9
HP:0008772HP:0009892Anotia1CDC45 CL E G H83181739ORPHA:2554Ear-patella-short stature syndromeHP:0040281 - Very frequent9
HP:0008772HP:0008551Microtia1CDC45 CL E G H83181739OMIM:617063Meier-Gorlin syndrome 7.9
HP:0008772HP:0009892Anotia1CDC6 CL E G H9901744ORPHA:2554Ear-patella-short stature syndromeHP:0040281 - Very frequent31
HP:0008772HP:0008551Microtia1CDC6 CL E G H9901744ORPHA:2554Ear-patella-short stature syndrome31
HP:0008772HP:0008551Microtia1CDC6 CL E G H9901744OMIM:613805Meier-Gorlin syndrome 5.31
HP:0008772HP:0008551Microtia1CDT1 CL E G H8162024576ORPHA:2554Ear-patella-short stature syndrome50
HP:0008772HP:0009892Anotia1CDT1 CL E G H8162024576ORPHA:2554Ear-patella-short stature syndromeHP:0040281 - Very frequent50
HP:0008772HP:0008551Microtia1CDT1 CL E G H8162024576OMIM:613804Meier-Gorlin syndrome 4.50
HP:0008772HP:0008551Microtia1CENPJ CL E G H5583517272OMIM:608393Microcephaly, primary autosomal recessive, 6161
HP:0008772HP:0008551Microtia1CHD5 CL E G H2603816816OMIM:619873
HP:0008772HP:0008551Microtia1CHD7 CL E G H5563620626ORPHA:138CHARGE syndromeHP:0040283 - Occasional515
HP:0008772HP:0008551Microtia1CHD7 CL E G H5563620626OMIM:214800Charge syndrome.515
HP:0008772HP:0008551Microtia1CHST3 CL E G H94691971OMIM:245600Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects.165
HP:0008772HP:0008551Microtia1CHST3 CL E G H94691971OMIM:143095Spondyloepiphyseal dysplasia with congenital joint dislocations.165
HP:0008772HP:0008551Microtia1CNOT1 CL E G H230197877OMIM:618500Holoprosencephaly 12 with or without pancreatic agenesis.2
HP:0008772HP:0008551Microtia1COG1 CL E G H93826545ORPHA:263508COG1-CDGHP:0040283 - Occasional52
HP:0008772HP:0008551Microtia1COG1 CL E G H93826545OMIM:611209Congenital disorder of glycosylation, type IIg.52
HP:0008772HP:0008551Microtia1CPLX1 CL E G H108152309ORPHA:280Wolf-Hirschhorn syndromeHP:0040281 - Very frequent1
HP:0008772HP:0008551Microtia1CRPPA CL E G H72992037276OMIM:614643Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7.
HP:0008772HP:0008551Microtia1CTBP1 CL E G H14872494ORPHA:280Wolf-Hirschhorn syndromeHP:0040281 - Very frequent2
HP:0008772HP:0008551Microtia1DACT1 CL E G H5133917748ORPHA:857Townes-Brocks syndromeHP:0040282 - Frequent2
HP:0008772HP:0008551Microtia1DACT1 CL E G H5133917748OMIM:617466Townes-Brocks syndrome 2.2
HP:0008772HP:0008551Microtia1DCHS1 CL E G H864213681ORPHA:314679Cerebrofacioarticular syndromeHP:0040281 - Very frequent27
HP:0008772HP:0008551Microtia1DCHS1 CL E G H864213681OMIM:601390Van maldergem syndrome 1.27
HP:0008772HP:0100720Hypoplasia of the ear cartilage1DDR2 CL E G H49212731OMIM:618175WARBURG-CINOTTI SYNDROME; WRCN45
HP:0008772HP:0008551Microtia1DHODH CL E G H17232867ORPHA:246Postaxial acrofacial dysostosisHP:0040281 - Very frequent59
HP:0008772HP:0008551Microtia1DLK1 CL E G H87882907ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040282 - Frequent1
HP:0008772HP:0008551Microtia1EDNRA CL E G H19093179OMIM:616367Mandibulofacial dysostosis with alopecia3
HP:0008772HP:0008551Microtia1EFTUD2 CL E G H934330858OMIM:610536Mandibulofacial dysostosis, Guion-Almeida type.48
HP:0008772HP:0008551Microtia1EFTUD2 CL E G H934330858ORPHA:79113Mandibulofacial dysostosis-microcephaly syndromeHP:0040281 - Very frequent48
HP:0008772HP:0008551Microtia1EIF5A CL E G H19843300OMIM:619376FAUNDES-BANKA SYNDROME; FABAS
HP:0008772HP:0008551Microtia1EYA1 CL E G H21383519OMIM:602588Branchiootic syndrome 1.135
HP:0008772HP:0008551Microtia1EYA1 CL E G H21383519OMIM:113650Branchiootorenal syndrome 1135
HP:0008772HP:0008551Microtia1FANCB CL E G H21873583ORPHA:3412VACTERL with hydrocephalus58
HP:0008772HP:0009892Anotia1FANCB CL E G H21873583ORPHA:3412VACTERL with hydrocephalusHP:0040283 - Occasional58
HP:0008772HP:0008551Microtia1FANCF CL E G H21883587OMIM:603467FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF87
HP:0008772HP:0008551Microtia1FANCL CL E G H5512020748OMIM:614083Fanconi anemia, complementation group LHP:0040283 - Occasional53
HP:0008772HP:0009892Anotia1FANCL CL E G H5512020748OMIM:614083Fanconi anemia, complementation group L53
HP:0008772HP:0008551Microtia1FAT4 CL E G H7963323109ORPHA:314679Cerebrofacioarticular syndromeHP:0040281 - Very frequent114
HP:0008772HP:0008551Microtia1FAT4 CL E G H7963323109OMIM:616006HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2; HKLLS2114
HP:0008772HP:0008551Microtia1FAT4 CL E G H7963323109OMIM:615546Van maldergem syndrome 2.114
HP:0008772HP:0008551Microtia1FBXO11 CL E G H8020413590OMIM:618089Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities.7
HP:0008772HP:0008551Microtia1FGF10 CL E G H22553666ORPHA:2363Lacrimoauriculodentodigital syndromeHP:0040284 - Very rare17
HP:0008772HP:0008551Microtia1FGF3 CL E G H22483681ORPHA:90024Deafness with labyrinthine aplasia, microtia, and microdontiaHP:0040281 - Very frequent18
HP:0008772HP:0008551Microtia1FGF3 CL E G H22483681OMIM:610706Deafness, congenital, with inner ear agenesis, microtia, and microdontia18
HP:0008772HP:0008551Microtia1FGFR2 CL E G H22633689ORPHA:2363Lacrimoauriculodentodigital syndromeHP:0040284 - Very rare175
HP:0008772HP:0008551Microtia1FGFR2 CL E G H22633689OMIM:101400Saethre-Chotzen syndrome.175
HP:0008772HP:0008551Microtia1FGFR2 CL E G H22633689ORPHA:794Saethre-Chotzen syndromeHP:0040282 - Frequent175
HP:0008772HP:0008551Microtia1FGFR3 CL E G H22613690ORPHA:2363Lacrimoauriculodentodigital syndromeHP:0040284 - Very rare145
HP:0008772HP:0008551Microtia1FGFR3 CL E G H22613690ORPHA:794Saethre-Chotzen syndromeHP:0040282 - Frequent145
HP:0008772HP:0008551Microtia1FIG4 CL E G H989616873OMIM:216340Yunis-Varon syndrome111
HP:0008772HP:0008551Microtia1FKRP CL E G H7914717997OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1.157
HP:0008772HP:0008551Microtia1FKTN CL E G H22183622OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1.184
HP:0008772HP:0008551Microtia1GABRD CL E G H25634084ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional10
HP:0008772HP:0008551Microtia1GATA1 CL E G H26234170ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare29
HP:0008772HP:0008551Microtia1GATA1 CL E G H26234170OMIM:190685Down syndrometrisomy 21, included.29
HP:0008772HP:0008551Microtia1GBA1 CL E G H26294177OMIM:608013Gaucher disease, perinatal lethal.
HP:0008772HP:0008551Microtia1GLI3 CL E G H27374319ORPHA:672Pallister-Hall syndromeHP:0040282 - Frequent270
HP:0008772HP:0008551Microtia1GLI3 CL E G H27374319OMIM:146510Pallister-Hall syndromeHP:0040284 - Very rare270
HP:0008772HP:0009892Anotia1GMNN CL E G H5105317493ORPHA:2554Ear-patella-short stature syndromeHP:0040281 - Very frequent3
HP:0008772HP:0008551Microtia1GMNN CL E G H5105317493ORPHA:2554Ear-patella-short stature syndrome3
HP:0008772HP:0008551Microtia1GMNN CL E G H5105317493OMIM:616835Meier-Gorlin syndrome 63
HP:0008772HP:0008551Microtia1HDAC8 CL E G H5586913315ORPHA:3459Wilson-Turner syndromeHP:0040281 - Very frequent37
HP:0008772HP:0008551Microtia1HIVEP2 CL E G H30974921OMIM:616977Mental retardation, autosomal dominant 4313
HP:0008772HP:0008551Microtia1HNRNPK CL E G H31905044OMIM:616580Au-Kline syndrome.8
HP:0008772HP:0008551Microtia1HOXA13 CL E G H32095102ORPHA:2438Hand-foot-genital syndromeHP:0040283 - Occasional11
HP:0008772HP:0008551Microtia1HOXA2 CL E G H31995103ORPHA:83463MicrotiaHP:0040280 - Obligate21
HP:0008772HP:0009892Anotia1HOXA2 CL E G H31995103ORPHA:83463MicrotiaHP:0040282 - Frequent21
HP:0008772HP:0008551Microtia1HOXA2 CL E G H31995103OMIM:612290MICROTIA, HEARING IMPAIRMENT, AND CLEFT PALATE21
HP:0008772HP:0008551Microtia1HS6ST2 CL E G H9016119133OMIM:301025Paganini-Miozzo syndrome.
HP:0008772HP:0008551Microtia1HSPA9 CL E G H33135244OMIM:616854Even-Plus syndrome6
HP:0008772HP:0008551Microtia1HSPG2 CL E G H33395273ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional345
HP:0008772HP:0008551Microtia1INTU CL E G H2715229239OMIM:617925Short-Rib thoracic dysplasia 20 with polydactyly.
HP:0008772HP:0008551Microtia1ITGA6 CL E G H36556142OMIM:619817EPIDERMOLYSIS BULLOSA, JUNCTIONAL 6, WITH PYLORIC ATRESIA; JEB679
HP:0008772HP:0008551Microtia1ITGB4 CL E G H36916158ORPHA:158684Epidermolysis bullosa simplex with pyloric atresiaHP:0040283 - Occasional124
HP:0008772HP:0008551Microtia1KCNAB2 CL E G H85146229ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional1
HP:0008772HP:0008551Microtia1KCTD1 CL E G H28425218249ORPHA:2036Scalp-ear-nipple syndromeHP:0040281 - Very frequent11
HP:0008772HP:0008551Microtia1KCTD1 CL E G H28425218249OMIM:181270Scalp-Ear-Nipple syndrome.11
HP:0008772HP:0008551Microtia1KIF15 CL E G H5699217273ORPHA:26132321q22.11q22.12 microdeletion syndromeHP:0040283 - Occasional
HP:0008772HP:0100720Hypoplasia of the ear cartilage1LAGE3 CL E G H827026058ORPHA:2065Galloway-Mowat syndromeHP:0040281 - Very frequent
HP:0008772HP:0008551Microtia1LARGE1 CL E G H92156511OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1.136
HP:0008772HP:0008551Microtia1LAS1L CL E G H8188725726ORPHA:3459Wilson-Turner syndromeHP:0040281 - Very frequent8
HP:0008772HP:0008551Microtia1LETM1 CL E G H39546556ORPHA:280Wolf-Hirschhorn syndromeHP:0040281 - Very frequent2
HP:0008772HP:0008551Microtia1LMBRD1 CL E G H5578823038OMIM:277380Methylmalonic aciduria and homocystinuria, Cblf type.46
HP:0008772HP:0008551Microtia1LUZP1 CL E G H779814985ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional
HP:0008772HP:0008551Microtia1MAF CL E G H40946776ORPHA:1272Aymé-Gripp syndromeHP:0040282 - Frequent21
HP:0008772HP:0008551Microtia1MAF CL E G H40946776OMIM:601088Ayme-Gripp syndromeHP:0040283 - Occasional21
HP:0008772HP:0008551Microtia1MAN2C1 CL E G H41236827OMIM:619775CONGENITAL DISORDER OF DEGLYCOSYLATION 2; CDDG2
HP:0008772HP:0008551Microtia1MAP1B CL E G H41316836OMIM:618918PERIVENTRICULAR NODULAR HETEROTOPIA 9; PVNH9
HP:0008772HP:0008551Microtia1MAPRE2 CL E G H109826891OMIM:616734Skin creases, congenital symmetric circumferential, 2.4
HP:0008772HP:0008551Microtia1MBD5 CL E G H5577720444OMIM:156200Mental retardation, autosomal dominant 1.252
HP:0008772HP:0008551Microtia1MCM5 CL E G H41746948OMIM:617564Meier-Gorlin syndrome 8.2
HP:0008772HP:0008551Microtia1MED12 CL E G H996811957ORPHA:93932FG syndrome type 1HP:0040282 - Frequent228
HP:0008772HP:0008551Microtia1MED12 CL E G H996811957OMIM:300895Ohdo syndrome, X-linked228
HP:0008772HP:0008551Microtia1MED12 CL E G H996811957OMIM:305450Opitz-Kaveggia syndrome228
HP:0008772HP:0008551Microtia1MEG3 CL E G H5538414575ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040282 - Frequent1
HP:0008772HP:0008551Microtia1MMP23B CL E G H85107171ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional
HP:0008772HP:0008551Microtia1MSX2 CL E G H44887392OMIM:168550Parietal foramina with cleidocranial dysplasia45
HP:0008772HP:0008551Microtia1NELFA CL E G H746912768ORPHA:280Wolf-Hirschhorn syndromeHP:0040281 - Very frequent
HP:0008772HP:0008551Microtia1NFIX CL E G H47847788ORPHA:44798019p13.3 microduplication syndromeHP:0040283 - Occasional40
HP:0008772HP:0008551Microtia1NIN CL E G H5119914906ORPHA:319675Microcephalic primordial dwarfism, Dauber typeHP:0040282 - Frequent55
HP:0008772HP:0008551Microtia1NIN CL E G H5119914906OMIM:614851Seckel syndrome 7.55
HP:0008772HP:0008551Microtia1NSD2 CL E G H746812766ORPHA:280Wolf-Hirschhorn syndromeHP:0040281 - Very frequent118
HP:0008772HP:0100720Hypoplasia of the ear cartilage1NUP107 CL E G H5712229914ORPHA:2065Galloway-Mowat syndromeHP:0040281 - Very frequent5
HP:0008772HP:0100720Hypoplasia of the ear cartilage1NUP133 CL E G H5574618016ORPHA:2065Galloway-Mowat syndromeHP:0040281 - Very frequent1
HP:0008772HP:0008551Microtia1ORC1 CL E G H49988487ORPHA:2554Ear-patella-short stature syndrome53
HP:0008772HP:0009892Anotia1ORC1 CL E G H49988487ORPHA:2554Ear-patella-short stature syndromeHP:0040281 - Very frequent53
HP:0008772HP:0008551Microtia1ORC1 CL E G H49988487OMIM:224690Meier-Gorlin syndrome 1.53
HP:0008772HP:0008551Microtia1ORC4 CL E G H50008490ORPHA:2554Ear-patella-short stature syndrome21
HP:0008772HP:0009892Anotia1ORC4 CL E G H50008490ORPHA:2554Ear-patella-short stature syndromeHP:0040281 - Very frequent21
HP:0008772HP:0008551Microtia1ORC4 CL E G H50008490OMIM:613800Meier-Gorlin syndrome 2.21
HP:0008772HP:0009892Anotia1ORC6 CL E G H2359417151ORPHA:2554Ear-patella-short stature syndromeHP:0040281 - Very frequent39
HP:0008772HP:0008551Microtia1ORC6 CL E G H2359417151ORPHA:2554Ear-patella-short stature syndrome39
HP:0008772HP:0008551Microtia1ORC6 CL E G H2359417151OMIM:613803Meier-Gorlin syndrome 3.39
HP:0008772HP:0100720Hypoplasia of the ear cartilage1OSGEP CL E G H5564418028ORPHA:2065Galloway-Mowat syndromeHP:0040281 - Very frequent
HP:0008772HP:0008551Microtia1PAK1 CL E G H50588590OMIM:618158Intellectual developmental disorder with macrocephaly, seizures, and speech delay.
HP:0008772HP:0008551Microtia1PAM16 CL E G H5102529679OMIM:613320Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type.1
HP:0008772HP:0008551Microtia1PBX1 CL E G H50878632OMIM:617641Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay.3
HP:0008772HP:0008551Microtia1PCGF2 CL E G H770312929OMIM:618371Turnpenny-Fry syndrome.
HP:0008772HP:0008551Microtia1PCNT CL E G H511616068OMIM:210720Microcephalic osteodysplastic primordial dwarfism, type II.531
HP:0008772HP:0008551Microtia1PDPN CL E G H1063029602ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional
HP:0008772HP:0008551Microtia1PIGG CL E G H5487225985ORPHA:280Wolf-Hirschhorn syndromeHP:0040281 - Very frequent7
HP:0008772HP:0008551Microtia1PIGN CL E G H235568967ORPHA:280633Multiple congenital anomalies-hypotonia-seizures syndromeHP:0040283 - Occasional37
HP:0008772HP:0008551Microtia1PIK3CA CL E G H52908975ORPHA:276280Hemihyperplasia-multiple lipomatosis syndromeHP:0040283 - Occasional162
HP:0008772HP:0008551Microtia1PLEC CL E G H53399069OMIM:612138Epidermolysis bullosa simplex with pyloric atresia.759
HP:0008772HP:0008551Microtia1PLEC CL E G H53399069ORPHA:158684Epidermolysis bullosa simplex with pyloric atresiaHP:0040283 - Occasional759
HP:0008772HP:0008551Microtia1POC1A CL E G H2588624488OMIM:614813Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis.10
HP:0008772HP:0008551Microtia1POLA1 CL E G H54229173OMIM:301030Van esch-o'driscoll syndrome2
HP:0008772HP:0008551Microtia1POLA1 CL E G H54229173ORPHA:163976X-linked intellectual disability, Van Esch typeHP:0040281 - Very frequent2
HP:0008772HP:0008551Microtia1POLE CL E G H54269177OMIM:618336Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency.1129
HP:0008772HP:0008551Microtia1POLR1A CL E G H2588517264OMIM:616462Acrofacial dysostosis, Cincinnati type.8
HP:0008772HP:0009892Anotia1POLR1A CL E G H2588517264OMIM:616462Acrofacial dysostosis, Cincinnati type.8
HP:0008772HP:0008551Microtia1POLR1B CL E G H8417220454ORPHA:861Treacher-Collins syndromeHP:0040282 - Frequent
HP:0008772HP:0008551Microtia1POLR1C CL E G H953320194OMIM:248390Treacher collins syndrome 3.38
HP:0008772HP:0008551Microtia1POLR1C CL E G H953320194ORPHA:861Treacher-Collins syndromeHP:0040282 - Frequent38
HP:0008772HP:0008551Microtia1POLR1D CL E G H5108220422OMIM:613717Treacher collins syndrome 2.31
HP:0008772HP:0009892Anotia1POLR1D CL E G H5108220422OMIM:613717Treacher collins syndrome 231
HP:0008772HP:0008551Microtia1POLR1D CL E G H5108220422ORPHA:861Treacher-Collins syndromeHP:0040282 - Frequent31
HP:0008772HP:0008551Microtia1POMT1 CL E G H105859202OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1.213
HP:0008772HP:0008551Microtia1POMT2 CL E G H2995419743OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1.221
HP:0008772HP:0008551Microtia1PRDM16 CL E G H6397614000ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional148
HP:0008772HP:0008551Microtia1PRIM1 CL E G H55579369OMIM:620005
HP:0008772HP:0008551Microtia1PRKCZ CL E G H55909412ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional
HP:0008772HP:0008551Microtia1PSMD12 CL E G H57189557ORPHA:52996217q24.2 microdeletion syndromeHP:0040282 - Frequent4
HP:0008772HP:0008551Microtia1RBM10 CL E G H82419896OMIM:311900Tarp syndrome.16
HP:0008772HP:0008551Microtia1RERE CL E G H4739965ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional16
HP:0008772HP:0008551Microtia1RIC1 CL E G H5758917686OMIM:618761CATIFA SYNDROME; CATIFA
HP:0008772HP:0008551Microtia1RIPK4 CL E G H54101496OMIM:263650Popliteal pterygium syndrome, Bartsocas-Papas type 169
HP:0008772HP:0008551Microtia1RNU4ATAC CL E G H10015168334016OMIM:210710Microcephalic osteodysplastic primordial dwarfism, type I.15
HP:0008772HP:0008551Microtia1RPL11 CL E G H613510301ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare22
HP:0008772HP:0008551Microtia1RPL15 CL E G H613810306ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare3
HP:0008772HP:0008551Microtia1RPL18 CL E G H614110310ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare
HP:0008772HP:0008551Microtia1RPL26 CL E G H615410327ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare3
HP:0008772HP:0008551Microtia1RPL27 CL E G H615510328ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare1
HP:0008772HP:0008551Microtia1RPL31 CL E G H616010334ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare
HP:0008772HP:0008551Microtia1RPL35 CL E G H1122410344ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare
HP:0008772HP:0008551Microtia1RPL35A CL E G H616510345ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare11
HP:0008772HP:0008551Microtia1RPL5 CL E G H612510360ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare40
HP:0008772HP:0008551Microtia1RPS10 CL E G H620410383ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare26
HP:0008772HP:0008551Microtia1RPS15A CL E G H621010389ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare
HP:0008772HP:0008551Microtia1RPS17 CL E G H621810397ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare5
HP:0008772HP:0008551Microtia1RPS19 CL E G H622310402ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare42
HP:0008772HP:0008551Microtia1RPS20 CL E G H622410405ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare1
HP:0008772HP:0008551Microtia1RPS24 CL E G H622910411ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare22
HP:0008772HP:0008551Microtia1RPS26 CL E G H623110414ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare20
HP:0008772HP:0008551Microtia1RPS26 CL E G H623110414OMIM:613309Diamond-blackfan anemia 10HP:0040283 - Occasional20
HP:0008772HP:0008551Microtia1RPS27 CL E G H623210416ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare1
HP:0008772HP:0008551Microtia1RPS28 CL E G H623410418ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare1
HP:0008772HP:0008551Microtia1RPS28 CL E G H623410418OMIM:606164Diamond-Blackfan anemia 15 with mandibulofacial dysostosis.1
HP:0008772HP:0008551Microtia1RPS29 CL E G H623510419ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare3
HP:0008772HP:0008551Microtia1RPS7 CL E G H620110440ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare20
HP:0008772HP:0008551Microtia1RSPO2 CL E G H34041928583ORPHA:3301Tetraamelia-multiple malformations syndromeHP:0040281 - Very frequent
HP:0008772HP:0008551Microtia1RSPRY1 CL E G H8997029420OMIM:616723Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type.2
HP:0008772HP:0008551Microtia1RTL1 CL E G H38801514665ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040282 - Frequent
HP:0008772HP:0008551Microtia1SALL1 CL E G H629910524ORPHA:857Townes-Brocks syndromeHP:0040282 - Frequent124
HP:0008772HP:0008551Microtia1SALL1 CL E G H629910524OMIM:107480Townes-Brocks syndrome 1.124
HP:0008772HP:0008551Microtia1SEMA3E CL E G H972310727ORPHA:138CHARGE syndromeHP:0040283 - Occasional16
HP:0008772HP:0008551Microtia1SETD1A CL E G H973929010OMIM:619056NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND DYSMORPHIC FACIES; NEDSID6
HP:0008772HP:0008551Microtia1SF3B2 CL E G H1099210769OMIM:164210Hemifacial microsomia.2
HP:0008772HP:0009892Anotia1SF3B2 CL E G H1099210769OMIM:164210Hemifacial microsomia.2
HP:0008772HP:0008551Microtia1SF3B4 CL E G H1026210771ORPHA:1788Acrofacial dysostosis, Rodríguez typeHP:0040281 - Very frequent49
HP:0008772HP:0008551Microtia1SF3B4 CL E G H1026210771ORPHA:245Nager syndromeHP:0040282 - Frequent49
HP:0008772HP:0008551Microtia1SIAH1 CL E G H647710857OMIM:619314BURATTI-HAREL SYNDROME; BURHAS
HP:0008772HP:0008551Microtia1SIM1 CL E G H649210882ORPHA:1718296q16 microdeletion syndromeHP:0040283 - Occasional40
HP:0008772HP:0008551Microtia1SIX1 CL E G H649510887OMIM:113650Branchiootorenal syndrome 150
HP:0008772HP:0008551Microtia1SKI CL E G H649710896ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional150
HP:0008772HP:0008551Microtia1SKIC3 CL E G H965223639OMIM:222470Trichohepatoenteric syndrome 1.
HP:0008772HP:0008551Microtia1SLC35C1 CL E G H5534320197ORPHA:99843Leukocyte adhesion deficiency type IIHP:0040283 - Occasional71
HP:0008772HP:0008551Microtia1SMAD4 CL E G H40896770OMIM:139210Myhre syndrome.504
HP:0008772HP:0008551Microtia1SMARCA2 CL E G H659511098ORPHA:2728Blepharophimosis-intellectual disability syndrome, Ohdo typeHP:0040281 - Very frequent146
HP:0008772HP:0008551Microtia1SPEN CL E G H2301317575ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional4
HP:0008772HP:0008551Microtia1SPOP CL E G H840511254OMIM:618829NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS216
HP:0008772HP:0008551Microtia1STAG2 CL E G H1073511355OMIM:301043HOLOPROSENCEPHALY 13, X-LINKED; HPE131
HP:0008772HP:0008551Microtia1STAG2 CL E G H1073511355OMIM:301022Neurodevelopmental disorder, X-linked, with craniofacial abnormalities.1
HP:0008772HP:0008551Microtia1TBX15 CL E G H691311594OMIM:260660Cousin syndrome5
HP:0008772HP:0008551Microtia1TCOF1 CL E G H694911654OMIM:154500Treacher collins-franceschetti syndrome140
HP:0008772HP:0008551Microtia1TCOF1 CL E G H694911654ORPHA:861Treacher-Collins syndromeHP:0040282 - Frequent140
HP:0008772HP:0008551Microtia1TCTN3 CL E G H2612324519ORPHA:2753Orofaciodigital syndrome type 431
HP:0008772HP:0008551Microtia1TFAP2A CL E G H702011742OMIM:113620Branchiooculofacial syndrome.12
HP:0008772HP:0100720Hypoplasia of the ear cartilage1TP53RK CL E G H11285816197ORPHA:2065Galloway-Mowat syndromeHP:0040281 - Very frequent
HP:0008772HP:0008551Microtia1TP63 CL E G H862615979OMIM:604292Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3.140
HP:0008772HP:0100720Hypoplasia of the ear cartilage1TPRKB CL E G H5100224259ORPHA:2065Galloway-Mowat syndromeHP:0040281 - Very frequent
HP:0008772HP:0008551Microtia1TSR2 CL E G H9012125455ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare1
HP:0008772HP:0008551Microtia1TSR2 CL E G H9012125455OMIM:300946Diamond-Blackfan anemia 14 with mandibulofacial dysostosis.1
HP:0008772HP:0008551Microtia1TWIST1 CL E G H729112428OMIM:101400Saethre-Chotzen syndrome.18
HP:0008772HP:0008551Microtia1TWIST1 CL E G H729112428ORPHA:794Saethre-Chotzen syndromeHP:0040282 - Frequent18
HP:0008772HP:0008551Microtia1TWIST1 CL E G H729112428OMIM:617746Sweeney-Cox syndrome.18
HP:0008772HP:0008551Microtia1TWIST2 CL E G H11758120670ORPHA:920Ablepharon macrostomia syndromeHP:0040281 - Very frequent7
HP:0008772HP:0008551Microtia1TWIST2 CL E G H11758120670OMIM:200110Ablepharon-Macrostomia syndrome7
HP:0008772HP:0008551Microtia1TWIST2 CL E G H11758120670OMIM:209885Barber-Say syndrome7
HP:0008772HP:0008551Microtia1UBE4B CL E G H1027712500ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional
HP:0008772HP:0100720Hypoplasia of the ear cartilage1WDR4 CL E G H1078512756ORPHA:2065Galloway-Mowat syndromeHP:0040281 - Very frequent
HP:0008772HP:0100720Hypoplasia of the ear cartilage1WDR73 CL E G H8494225928ORPHA:2065Galloway-Mowat syndromeHP:0040281 - Very frequent14
HP:0008772HP:0008551Microtia1WNT3 CL E G H747312782ORPHA:3301Tetraamelia-multiple malformations syndromeHP:0040281 - Very frequent12
HP:0008772HP:0008551Microtia1ZMYM2 CL E G H775012989OMIM:619522NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0008772HP:0008551Microtia1ZNF462 CL E G H5849921684OMIM:618619WEISS-KRUSZKA SYNDROME; WSKA4
HP:0008772HP:0008569Microtia, second degree2B3GLCT CL E G H14517320207ORPHA:709Peters plus syndromeHP:0040282 - Frequent36
HP:0008772HP:0008569Microtia, second degree2B3GLCT CL E G H14517320207OMIM:261540Peters-Plus syndrome.36
HP:0008772HP:0011267Microtia, third degree2CDC45 CL E G H83181739ORPHA:2554Ear-patella-short stature syndromeHP:0040281 - Very frequent9
HP:0008772HP:0011267Microtia, third degree2CDC6 CL E G H9901744ORPHA:2554Ear-patella-short stature syndromeHP:0040281 - Very frequent31
HP:0008772HP:0011267Microtia, third degree2CDT1 CL E G H8162024576ORPHA:2554Ear-patella-short stature syndromeHP:0040281 - Very frequent50
HP:0008772HP:0011267Microtia, third degree2FANCB CL E G H21873583ORPHA:3412VACTERL with hydrocephalusHP:0040283 - Occasional58
HP:0008772HP:0011266Microtia, first degree2FGF3 CL E G H22483681OMIM:610706Deafness, congenital, with inner ear agenesis, microtia, and microdontia.18
HP:0008772HP:0011267Microtia, third degree2GMNN CL E G H5105317493ORPHA:2554Ear-patella-short stature syndromeHP:0040281 - Very frequent3
HP:0008772HP:0011266Microtia, first degree2MED12 CL E G H996811957OMIM:305450Opitz-Kaveggia syndrome.228
HP:0008772HP:0011267Microtia, third degree2ORC1 CL E G H49988487ORPHA:2554Ear-patella-short stature syndromeHP:0040281 - Very frequent53
HP:0008772HP:0011267Microtia, third degree2ORC4 CL E G H50008490ORPHA:2554Ear-patella-short stature syndromeHP:0040281 - Very frequent21
HP:0008772HP:0011267Microtia, third degree2ORC6 CL E G H2359417151ORPHA:2554Ear-patella-short stature syndromeHP:0040281 - Very frequent39
HP:0008772HP:0011266Microtia, first degree2TBX15 CL E G H691311594OMIM:260660Cousin syndrome.5
HP:0008772HP:0011267Microtia, third degree2TCTN3 CL E G H2612324519ORPHA:2753Orofaciodigital syndrome type 4HP:0040281 - Very frequent31
HP:0008772HP:0011266Microtia, first degree2TWIST2 CL E G H11758120670OMIM:200110Ablepharon-Macrostomia syndrome7
HP:0008772HP:0011267Microtia, third degree2TWIST2 CL E G H11758120670OMIM:200110Ablepharon-Macrostomia syndrome.7
HP:0008772HP:0011266Microtia, first degree2TWIST2 CL E G H11758120670OMIM:209885Barber-Say syndrome7


Genes (177) :ABHD5 ADA2 ADNP AGA AMER1 ATRX B3GAT3 B3GLCT BMP2 BPTF CASZ1 CD96 CDC45 CDC6 CDT1 CENPJ CHD5 CHD7 CHST3 CNOT1 COG1 CPLX1 CRPPA CTBP1 DACT1 DCHS1 DDR2 DHODH DLK1 EDN1 EDNRA EFTUD2 EIF5A EYA1 FANCB FANCF FANCL FAT4 FBXO11 FGF10 FGF3 FGFR2 FGFR3 FIG4 FKRP FKTN GABRD GATA1 GBA1 GLI3 GMNN GNAI3 HDAC8 HIVEP2 HNRNPK HOXA13 HOXA2 HS6ST2 HSPA9 HSPG2 INTU ITGA6 ITGB4 KCNAB2 KCTD1 KIF15 LAGE3 LARGE1 LAS1L LETM1 LMBRD1 LUZP1 MAF MAN2C1 MAP1B MAPRE2 MBD5 MCM5 MED12 MEG3 MMP23B MSX2 NELFA NFIX NIN NSD2 NUP107 NUP133 ORC1 ORC4 ORC6 OSGEP OTUD6B PAK1 PAM16 PBX1 PCGF2 PCNT PDPN PIGG PIGN PIK3CA PLCB4 PLEC POC1A POLA1 POLE POLR1A POLR1B POLR1C POLR1D POMT1 POMT2 PRDM16 PRIM1 PRKCZ PSMD12 RBM10 RERE RIC1 RIPK4 RNU4ATAC RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPS10 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 RSPO2 RSPRY1 RTL1 SALL1 SEMA3E SETD1A SF3B2 SF3B4 SIAH1 SIM1 SIX1 SKI SKIC3 SLC35C1 SMAD4 SMARCA2 SPEN SPOP STAG2 TBX15 TCOF1 TCTN3 TFAP2A TP53RK TP63 TPRKB TSR2 TWIST1 TWIST2 UBE4B WDR4 WDR73 WNT3 ZMYM2 ZNF462

Diseases (145) :OMIM:275630 ORPHA:124 ORPHA:404448 ORPHA:93 OMIM:300373 OMIM:301040 OMIM:309580 OMIM:245600 ORPHA:709 OMIM:261540 ORPHA:261295 ORPHA:529962 ORPHA:1606 ORPHA:1308 ORPHA:2554 OMIM:617063 OMIM:613805 OMIM:613804 OMIM:608393 OMIM:619873 ORPHA:138 OMIM:214800 OMIM:143095 OMIM:618500 ORPHA:263508 OMIM:611209 ORPHA:280 OMIM:614643 ORPHA:857 OMIM:617466 ORPHA:314679 OMIM:601390 OMIM:618175 ORPHA:246 ORPHA:96334 ORPHA:137888 OMIM:616367 OMIM:610536 ORPHA:79113 OMIM:619376 OMIM:602588 OMIM:113650 ORPHA:3412 OMIM:603467 OMIM:614083 OMIM:616006 OMIM:615546 OMIM:618089 ORPHA:2363 ORPHA:90024 OMIM:610706 ORPHA:794 OMIM:101400 OMIM:216340 OMIM:236670 OMIM:190685 OMIM:608013 ORPHA:672 OMIM:146510 OMIM:616835 ORPHA:3459 OMIM:616977 OMIM:616580 ORPHA:2438 ORPHA:83463 OMIM:612290 OMIM:301025 OMIM:616854 OMIM:617925 OMIM:619817 ORPHA:158684 OMIM:181270 ORPHA:2036 ORPHA:261323 ORPHA:2065 OMIM:277380 ORPHA:1272 OMIM:601088 OMIM:619775 OMIM:618918 OMIM:616734 OMIM:156200 OMIM:617564 ORPHA:93932 OMIM:300895 OMIM:305450 OMIM:168550 ORPHA:447980 ORPHA:319675 OMIM:614851 OMIM:224690 OMIM:613800 OMIM:613803 ORPHA:505237 OMIM:618158 OMIM:613320 OMIM:617641 OMIM:618371 OMIM:210720 ORPHA:280633 ORPHA:276280 OMIM:612138 OMIM:614813 OMIM:301030 ORPHA:163976 OMIM:618336 OMIM:616462 ORPHA:861 OMIM:248390 OMIM:613717 OMIM:620005 OMIM:311900 OMIM:618761 OMIM:263650 OMIM:210710 OMIM:613309 OMIM:606164 ORPHA:3301 OMIM:616723 OMIM:107480 OMIM:619056 OMIM:164210 ORPHA:1788 ORPHA:245 OMIM:619314 ORPHA:171829 OMIM:222470 ORPHA:99843 OMIM:139210 ORPHA:2728 OMIM:618829 OMIM:301043 OMIM:301022 OMIM:260660 OMIM:154500 ORPHA:2753 OMIM:113620 OMIM:604292 OMIM:300946 OMIM:617746 ORPHA:920 OMIM:200110 OMIM:209885 OMIM:619522 OMIM:618619
 

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