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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Abnormal pinna morphology (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 entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0008551HP:0008551Microtia0ABHD5 CL E G H5109921396OMIM:275630Chanarin-Dorfman syndrome.90
HP:0008551HP:0008551Microtia0ADA2 CL E G H518161839ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare22
HP:0008551HP:0008551Microtia0ADNP CL E G H2339415766ORPHA:404448ADNP syndromeHP:0040283 - Occasional47
HP:0008551HP:0008551Microtia0AGA CL E G H175318ORPHA:93AspartylglucosaminuriaHP:0040281 - Very frequent76
HP:0008551HP:0008551Microtia0AMER1 CL E G H13928526837OMIM:300373Osteopathia striata with cranial sclerosis.34
HP:0008551HP:0008551Microtia0ATRX CL E G H546886OMIM:301040Alpha-Thalassemia/mental retardation syndrome, X-linked.169
HP:0008551HP:0008551Microtia0ATRX CL E G H546886OMIM:309580Mental retardation-hypotonic facies syndrome, X-linked, 1.169
HP:0008551HP:0008551Microtia0B3GAT3 CL E G H26229923OMIM:245600Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects.5
HP:0008551HP:0008551Microtia0B3GLCT CL E G H14517320207ORPHA:709Peters plus syndrome36
HP:0008551HP:0008551Microtia0B3GLCT CL E G H14517320207OMIM:261540Peters-Plus syndrome36
HP:0008551HP:0008551Microtia0BMP2 CL E G H6501069ORPHA:26129520p12.3 microdeletion syndromeHP:0040283 - Occasional13
HP:0008551HP:0008551Microtia0BPTF CL E G H21863581ORPHA:52996217q24.2 microdeletion syndromeHP:0040282 - Frequent2
HP:0008551HP:0008551Microtia0CASZ1 CL E G H5489726002ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional3
HP:0008551HP:0008551Microtia0CDC45 CL E G H83181739ORPHA:2554Ear-patella-short stature syndrome9
HP:0008551HP:0008551Microtia0CDC45 CL E G H83181739OMIM:617063Meier-Gorlin syndrome 7.9
HP:0008551HP:0008551Microtia0CDC6 CL E G H9901744ORPHA:2554Ear-patella-short stature syndrome31
HP:0008551HP:0008551Microtia0CDC6 CL E G H9901744OMIM:613805Meier-Gorlin syndrome 5.31
HP:0008551HP:0008551Microtia0CDT1 CL E G H8162024576ORPHA:2554Ear-patella-short stature syndrome50
HP:0008551HP:0008551Microtia0CDT1 CL E G H8162024576OMIM:613804Meier-Gorlin syndrome 4.50
HP:0008551HP:0008551Microtia0CENPJ CL E G H5583517272OMIM:608393Microcephaly, primary autosomal recessive, 6161
HP:0008551HP:0008551Microtia0CHD5 CL E G H2603816816OMIM:619873
HP:0008551HP:0008551Microtia0CHD7 CL E G H5563620626ORPHA:138CHARGE syndromeHP:0040283 - Occasional515
HP:0008551HP:0008551Microtia0CHD7 CL E G H5563620626OMIM:214800Charge syndrome.515
HP:0008551HP:0008551Microtia0CHST3 CL E G H94691971OMIM:245600Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects.165
HP:0008551HP:0008551Microtia0CHST3 CL E G H94691971OMIM:143095Spondyloepiphyseal dysplasia with congenital joint dislocations.165
HP:0008551HP:0008551Microtia0CNOT1 CL E G H230197877OMIM:618500Holoprosencephaly 12 with or without pancreatic agenesis.2
HP:0008551HP:0008551Microtia0COG1 CL E G H93826545ORPHA:263508COG1-CDGHP:0040283 - Occasional52
HP:0008551HP:0008551Microtia0COG1 CL E G H93826545OMIM:611209Congenital disorder of glycosylation, type IIg.52
HP:0008551HP:0008551Microtia0CPLX1 CL E G H108152309ORPHA:280Wolf-Hirschhorn syndromeHP:0040281 - Very frequent1
HP:0008551HP:0008551Microtia0CRPPA CL E G H72992037276OMIM:614643Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7.
HP:0008551HP:0008551Microtia0CTBP1 CL E G H14872494ORPHA:280Wolf-Hirschhorn syndromeHP:0040281 - Very frequent2
HP:0008551HP:0008551Microtia0DACT1 CL E G H5133917748ORPHA:857Townes-Brocks syndromeHP:0040282 - Frequent2
HP:0008551HP:0008551Microtia0DACT1 CL E G H5133917748OMIM:617466Townes-Brocks syndrome 2.2
HP:0008551HP:0008551Microtia0DCHS1 CL E G H864213681ORPHA:314679Cerebrofacioarticular syndromeHP:0040281 - Very frequent27
HP:0008551HP:0008551Microtia0DCHS1 CL E G H864213681OMIM:601390Van maldergem syndrome 1.27
HP:0008551HP:0008551Microtia0DHODH CL E G H17232867ORPHA:246Postaxial acrofacial dysostosisHP:0040281 - Very frequent59
HP:0008551HP:0008551Microtia0DLK1 CL E G H87882907ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040282 - Frequent1
HP:0008551HP:0008551Microtia0EDNRA CL E G H19093179OMIM:616367Mandibulofacial dysostosis with alopecia3
HP:0008551HP:0008551Microtia0EFTUD2 CL E G H934330858OMIM:610536Mandibulofacial dysostosis, Guion-Almeida type.48
HP:0008551HP:0008551Microtia0EFTUD2 CL E G H934330858ORPHA:79113Mandibulofacial dysostosis-microcephaly syndromeHP:0040281 - Very frequent48
HP:0008551HP:0008551Microtia0EIF5A CL E G H19843300OMIM:619376FAUNDES-BANKA SYNDROME; FABAS
HP:0008551HP:0008551Microtia0EYA1 CL E G H21383519OMIM:602588Branchiootic syndrome 1.135
HP:0008551HP:0008551Microtia0EYA1 CL E G H21383519OMIM:113650Branchiootorenal syndrome 1135
HP:0008551HP:0008551Microtia0FANCB CL E G H21873583ORPHA:3412VACTERL with hydrocephalus58
HP:0008551HP:0008551Microtia0FANCF CL E G H21883587OMIM:603467FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF87
HP:0008551HP:0008551Microtia0FANCL CL E G H5512020748OMIM:614083Fanconi anemia, complementation group LHP:0040283 - Occasional53
HP:0008551HP:0008551Microtia0FAT4 CL E G H7963323109ORPHA:314679Cerebrofacioarticular syndromeHP:0040281 - Very frequent114
HP:0008551HP:0008551Microtia0FAT4 CL E G H7963323109OMIM:616006HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2; HKLLS2114
HP:0008551HP:0008551Microtia0FAT4 CL E G H7963323109OMIM:615546Van maldergem syndrome 2.114
HP:0008551HP:0008551Microtia0FBXO11 CL E G H8020413590OMIM:618089Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities.7
HP:0008551HP:0008551Microtia0FGF10 CL E G H22553666ORPHA:2363Lacrimoauriculodentodigital syndromeHP:0040284 - Very rare17
HP:0008551HP:0008551Microtia0FGF3 CL E G H22483681ORPHA:90024Deafness with labyrinthine aplasia, microtia, and microdontiaHP:0040281 - Very frequent18
HP:0008551HP:0008551Microtia0FGF3 CL E G H22483681OMIM:610706Deafness, congenital, with inner ear agenesis, microtia, and microdontia18
HP:0008551HP:0008551Microtia0FGFR2 CL E G H22633689ORPHA:2363Lacrimoauriculodentodigital syndromeHP:0040284 - Very rare175
HP:0008551HP:0008551Microtia0FGFR2 CL E G H22633689ORPHA:794Saethre-Chotzen syndromeHP:0040282 - Frequent175
HP:0008551HP:0008551Microtia0FGFR2 CL E G H22633689OMIM:101400Saethre-Chotzen syndrome.175
HP:0008551HP:0008551Microtia0FGFR3 CL E G H22613690ORPHA:2363Lacrimoauriculodentodigital syndromeHP:0040284 - Very rare145
HP:0008551HP:0008551Microtia0FGFR3 CL E G H22613690ORPHA:794Saethre-Chotzen syndromeHP:0040282 - Frequent145
HP:0008551HP:0008551Microtia0FIG4 CL E G H989616873OMIM:216340Yunis-Varon syndrome111
HP:0008551HP:0008551Microtia0FKRP CL E G H7914717997OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1.157
HP:0008551HP:0008551Microtia0FKTN CL E G H22183622OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1.184
HP:0008551HP:0008551Microtia0GABRD CL E G H25634084ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional10
HP:0008551HP:0008551Microtia0GATA1 CL E G H26234170ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare29
HP:0008551HP:0008551Microtia0GATA1 CL E G H26234170OMIM:190685Down syndrometrisomy 21, included.29
HP:0008551HP:0008551Microtia0GBA1 CL E G H26294177OMIM:608013Gaucher disease, perinatal lethal.
HP:0008551HP:0008551Microtia0GLI3 CL E G H27374319ORPHA:672Pallister-Hall syndromeHP:0040282 - Frequent270
HP:0008551HP:0008551Microtia0GLI3 CL E G H27374319OMIM:146510Pallister-Hall syndromeHP:0040284 - Very rare270
HP:0008551HP:0008551Microtia0GMNN CL E G H5105317493ORPHA:2554Ear-patella-short stature syndrome3
HP:0008551HP:0008551Microtia0GMNN CL E G H5105317493OMIM:616835Meier-Gorlin syndrome 63
HP:0008551HP:0008551Microtia0HDAC8 CL E G H5586913315ORPHA:3459Wilson-Turner syndromeHP:0040281 - Very frequent37
HP:0008551HP:0008551Microtia0HIVEP2 CL E G H30974921OMIM:616977Mental retardation, autosomal dominant 4313
HP:0008551HP:0008551Microtia0HNRNPK CL E G H31905044OMIM:616580Au-Kline syndrome.8
HP:0008551HP:0008551Microtia0HOXA13 CL E G H32095102ORPHA:2438Hand-foot-genital syndromeHP:0040283 - Occasional11
HP:0008551HP:0008551Microtia0HOXA2 CL E G H31995103ORPHA:83463MicrotiaHP:0040280 - Obligate21
HP:0008551HP:0008551Microtia0HOXA2 CL E G H31995103OMIM:612290MICROTIA, HEARING IMPAIRMENT, AND CLEFT PALATE21
HP:0008551HP:0008551Microtia0HS6ST2 CL E G H9016119133OMIM:301025Paganini-Miozzo syndrome.
HP:0008551HP:0008551Microtia0HSPA9 CL E G H33135244OMIM:616854Even-Plus syndrome6
HP:0008551HP:0008551Microtia0HSPG2 CL E G H33395273ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional345
HP:0008551HP:0008551Microtia0INTU CL E G H2715229239OMIM:617925Short-Rib thoracic dysplasia 20 with polydactyly.
HP:0008551HP:0008551Microtia0ITGA6 CL E G H36556142OMIM:619817EPIDERMOLYSIS BULLOSA, JUNCTIONAL 6, WITH PYLORIC ATRESIA; JEB679
HP:0008551HP:0008551Microtia0ITGB4 CL E G H36916158ORPHA:158684Epidermolysis bullosa simplex with pyloric atresiaHP:0040283 - Occasional124
HP:0008551HP:0008551Microtia0KCNAB2 CL E G H85146229ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional1
HP:0008551HP:0008551Microtia0KCTD1 CL E G H28425218249OMIM:181270Scalp-Ear-Nipple syndrome.11
HP:0008551HP:0008551Microtia0KCTD1 CL E G H28425218249ORPHA:2036Scalp-ear-nipple syndromeHP:0040281 - Very frequent11
HP:0008551HP:0008551Microtia0KIF15 CL E G H5699217273ORPHA:26132321q22.11q22.12 microdeletion syndromeHP:0040283 - Occasional
HP:0008551HP:0008551Microtia0LARGE1 CL E G H92156511OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1.136
HP:0008551HP:0008551Microtia0LAS1L CL E G H8188725726ORPHA:3459Wilson-Turner syndromeHP:0040281 - Very frequent8
HP:0008551HP:0008551Microtia0LETM1 CL E G H39546556ORPHA:280Wolf-Hirschhorn syndromeHP:0040281 - Very frequent2
HP:0008551HP:0008551Microtia0LMBRD1 CL E G H5578823038OMIM:277380Methylmalonic aciduria and homocystinuria, Cblf type.46
HP:0008551HP:0008551Microtia0LUZP1 CL E G H779814985ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional
HP:0008551HP:0008551Microtia0MAF CL E G H40946776ORPHA:1272Aymé-Gripp syndromeHP:0040282 - Frequent21
HP:0008551HP:0008551Microtia0MAF CL E G H40946776OMIM:601088Ayme-Gripp syndromeHP:0040283 - Occasional21
HP:0008551HP:0008551Microtia0MAN2C1 CL E G H41236827OMIM:619775CONGENITAL DISORDER OF DEGLYCOSYLATION 2; CDDG2
HP:0008551HP:0008551Microtia0MAP1B CL E G H41316836OMIM:618918PERIVENTRICULAR NODULAR HETEROTOPIA 9; PVNH9
HP:0008551HP:0008551Microtia0MAPRE2 CL E G H109826891OMIM:616734Skin creases, congenital symmetric circumferential, 2.4
HP:0008551HP:0008551Microtia0MBD5 CL E G H5577720444OMIM:156200Mental retardation, autosomal dominant 1.252
HP:0008551HP:0008551Microtia0MCM5 CL E G H41746948OMIM:617564Meier-Gorlin syndrome 8.2
HP:0008551HP:0008551Microtia0MED12 CL E G H996811957ORPHA:93932FG syndrome type 1HP:0040282 - Frequent228
HP:0008551HP:0008551Microtia0MED12 CL E G H996811957OMIM:300895Ohdo syndrome, X-linked228
HP:0008551HP:0008551Microtia0MED12 CL E G H996811957OMIM:305450Opitz-Kaveggia syndrome228
HP:0008551HP:0008551Microtia0MEG3 CL E G H5538414575ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040282 - Frequent1
HP:0008551HP:0008551Microtia0MMP23B CL E G H85107171ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional
HP:0008551HP:0008551Microtia0MSX2 CL E G H44887392OMIM:168550Parietal foramina with cleidocranial dysplasia45
HP:0008551HP:0008551Microtia0NELFA CL E G H746912768ORPHA:280Wolf-Hirschhorn syndromeHP:0040281 - Very frequent
HP:0008551HP:0008551Microtia0NFIX CL E G H47847788ORPHA:44798019p13.3 microduplication syndromeHP:0040283 - Occasional40
HP:0008551HP:0008551Microtia0NIN CL E G H5119914906ORPHA:319675Microcephalic primordial dwarfism, Dauber typeHP:0040282 - Frequent55
HP:0008551HP:0008551Microtia0NIN CL E G H5119914906OMIM:614851Seckel syndrome 7.55
HP:0008551HP:0008551Microtia0NSD2 CL E G H746812766ORPHA:280Wolf-Hirschhorn syndromeHP:0040281 - Very frequent118
HP:0008551HP:0008551Microtia0ORC1 CL E G H49988487ORPHA:2554Ear-patella-short stature syndrome53
HP:0008551HP:0008551Microtia0ORC1 CL E G H49988487OMIM:224690Meier-Gorlin syndrome 1.53
HP:0008551HP:0008551Microtia0ORC4 CL E G H50008490ORPHA:2554Ear-patella-short stature syndrome21
HP:0008551HP:0008551Microtia0ORC4 CL E G H50008490OMIM:613800Meier-Gorlin syndrome 2.21
HP:0008551HP:0008551Microtia0ORC6 CL E G H2359417151ORPHA:2554Ear-patella-short stature syndrome39
HP:0008551HP:0008551Microtia0ORC6 CL E G H2359417151OMIM:613803Meier-Gorlin syndrome 3.39
HP:0008551HP:0008551Microtia0PAK1 CL E G H50588590OMIM:618158Intellectual developmental disorder with macrocephaly, seizures, and speech delay.
HP:0008551HP:0008551Microtia0PAM16 CL E G H5102529679OMIM:613320Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type.1
HP:0008551HP:0008551Microtia0PBX1 CL E G H50878632OMIM:617641Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay.3
HP:0008551HP:0008551Microtia0PCGF2 CL E G H770312929OMIM:618371Turnpenny-Fry syndrome.
HP:0008551HP:0008551Microtia0PCNT CL E G H511616068OMIM:210720Microcephalic osteodysplastic primordial dwarfism, type II.531
HP:0008551HP:0008551Microtia0PDPN CL E G H1063029602ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional
HP:0008551HP:0008551Microtia0PIGG CL E G H5487225985ORPHA:280Wolf-Hirschhorn syndromeHP:0040281 - Very frequent7
HP:0008551HP:0008551Microtia0PIGN CL E G H235568967ORPHA:280633Multiple congenital anomalies-hypotonia-seizures syndromeHP:0040283 - Occasional37
HP:0008551HP:0008551Microtia0PIK3CA CL E G H52908975ORPHA:276280Hemihyperplasia-multiple lipomatosis syndromeHP:0040283 - Occasional162
HP:0008551HP:0008551Microtia0PLEC CL E G H53399069ORPHA:158684Epidermolysis bullosa simplex with pyloric atresiaHP:0040283 - Occasional759
HP:0008551HP:0008551Microtia0PLEC CL E G H53399069OMIM:612138Epidermolysis bullosa simplex with pyloric atresia.759
HP:0008551HP:0008551Microtia0POC1A CL E G H2588624488OMIM:614813Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis.10
HP:0008551HP:0008551Microtia0POLA1 CL E G H54229173OMIM:301030Van esch-o'driscoll syndrome2
HP:0008551HP:0008551Microtia0POLA1 CL E G H54229173ORPHA:163976X-linked intellectual disability, Van Esch typeHP:0040281 - Very frequent2
HP:0008551HP:0008551Microtia0POLE CL E G H54269177OMIM:618336Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency.1129
HP:0008551HP:0008551Microtia0POLR1A CL E G H2588517264OMIM:616462Acrofacial dysostosis, Cincinnati type.8
HP:0008551HP:0008551Microtia0POLR1B CL E G H8417220454ORPHA:861Treacher-Collins syndromeHP:0040282 - Frequent
HP:0008551HP:0008551Microtia0POLR1C CL E G H953320194OMIM:248390Treacher collins syndrome 3.38
HP:0008551HP:0008551Microtia0POLR1C CL E G H953320194ORPHA:861Treacher-Collins syndromeHP:0040282 - Frequent38
HP:0008551HP:0008551Microtia0POLR1D CL E G H5108220422OMIM:613717Treacher collins syndrome 2.31
HP:0008551HP:0008551Microtia0POLR1D CL E G H5108220422ORPHA:861Treacher-Collins syndromeHP:0040282 - Frequent31
HP:0008551HP:0008551Microtia0POMT1 CL E G H105859202OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1.213
HP:0008551HP:0008551Microtia0POMT2 CL E G H2995419743OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1.221
HP:0008551HP:0008551Microtia0PRDM16 CL E G H6397614000ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional148
HP:0008551HP:0008551Microtia0PRIM1 CL E G H55579369OMIM:620005
HP:0008551HP:0008551Microtia0PRKCZ CL E G H55909412ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional
HP:0008551HP:0008551Microtia0PSMD12 CL E G H57189557ORPHA:52996217q24.2 microdeletion syndromeHP:0040282 - Frequent4
HP:0008551HP:0008551Microtia0RBM10 CL E G H82419896OMIM:311900Tarp syndrome.16
HP:0008551HP:0008551Microtia0RERE CL E G H4739965ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional16
HP:0008551HP:0008551Microtia0RIC1 CL E G H5758917686OMIM:618761CATIFA SYNDROME; CATIFA
HP:0008551HP:0008551Microtia0RIPK4 CL E G H54101496OMIM:263650Popliteal pterygium syndrome, Bartsocas-Papas type 169
HP:0008551HP:0008551Microtia0RNU4ATAC CL E G H10015168334016OMIM:210710Microcephalic osteodysplastic primordial dwarfism, type I.15
HP:0008551HP:0008551Microtia0RPL11 CL E G H613510301ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare22
HP:0008551HP:0008551Microtia0RPL15 CL E G H613810306ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare3
HP:0008551HP:0008551Microtia0RPL18 CL E G H614110310ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare
HP:0008551HP:0008551Microtia0RPL26 CL E G H615410327ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare3
HP:0008551HP:0008551Microtia0RPL27 CL E G H615510328ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare1
HP:0008551HP:0008551Microtia0RPL31 CL E G H616010334ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare
HP:0008551HP:0008551Microtia0RPL35 CL E G H1122410344ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare
HP:0008551HP:0008551Microtia0RPL35A CL E G H616510345ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare11
HP:0008551HP:0008551Microtia0RPL5 CL E G H612510360ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare40
HP:0008551HP:0008551Microtia0RPS10 CL E G H620410383ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare26
HP:0008551HP:0008551Microtia0RPS15A CL E G H621010389ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare
HP:0008551HP:0008551Microtia0RPS17 CL E G H621810397ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare5
HP:0008551HP:0008551Microtia0RPS19 CL E G H622310402ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare42
HP:0008551HP:0008551Microtia0RPS20 CL E G H622410405ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare1
HP:0008551HP:0008551Microtia0RPS24 CL E G H622910411ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare22
HP:0008551HP:0008551Microtia0RPS26 CL E G H623110414ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare20
HP:0008551HP:0008551Microtia0RPS26 CL E G H623110414OMIM:613309Diamond-blackfan anemia 10HP:0040283 - Occasional20
HP:0008551HP:0008551Microtia0RPS27 CL E G H623210416ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare1
HP:0008551HP:0008551Microtia0RPS28 CL E G H623410418ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare1
HP:0008551HP:0008551Microtia0RPS28 CL E G H623410418OMIM:606164Diamond-Blackfan anemia 15 with mandibulofacial dysostosis.1
HP:0008551HP:0008551Microtia0RPS29 CL E G H623510419ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare3
HP:0008551HP:0008551Microtia0RPS7 CL E G H620110440ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare20
HP:0008551HP:0008551Microtia0RSPO2 CL E G H34041928583ORPHA:3301Tetraamelia-multiple malformations syndromeHP:0040281 - Very frequent
HP:0008551HP:0008551Microtia0RSPRY1 CL E G H8997029420OMIM:616723Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type.2
HP:0008551HP:0008551Microtia0RTL1 CL E G H38801514665ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040282 - Frequent
HP:0008551HP:0008551Microtia0SALL1 CL E G H629910524ORPHA:857Townes-Brocks syndromeHP:0040282 - Frequent124
HP:0008551HP:0008551Microtia0SALL1 CL E G H629910524OMIM:107480Townes-Brocks syndrome 1.124
HP:0008551HP:0008551Microtia0SEMA3E CL E G H972310727ORPHA:138CHARGE syndromeHP:0040283 - Occasional16
HP:0008551HP:0008551Microtia0SETD1A CL E G H973929010OMIM:619056NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND DYSMORPHIC FACIES; NEDSID6
HP:0008551HP:0008551Microtia0SF3B2 CL E G H1099210769OMIM:164210Hemifacial microsomia.2
HP:0008551HP:0008551Microtia0SF3B4 CL E G H1026210771ORPHA:1788Acrofacial dysostosis, Rodríguez typeHP:0040281 - Very frequent49
HP:0008551HP:0008551Microtia0SF3B4 CL E G H1026210771ORPHA:245Nager syndromeHP:0040282 - Frequent49
HP:0008551HP:0008551Microtia0SIAH1 CL E G H647710857OMIM:619314BURATTI-HAREL SYNDROME; BURHAS
HP:0008551HP:0008551Microtia0SIM1 CL E G H649210882ORPHA:1718296q16 microdeletion syndromeHP:0040283 - Occasional40
HP:0008551HP:0008551Microtia0SIX1 CL E G H649510887OMIM:113650Branchiootorenal syndrome 150
HP:0008551HP:0008551Microtia0SKI CL E G H649710896ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional150
HP:0008551HP:0008551Microtia0SKIC3 CL E G H965223639OMIM:222470Trichohepatoenteric syndrome 1.
HP:0008551HP:0008551Microtia0SLC35C1 CL E G H5534320197ORPHA:99843Leukocyte adhesion deficiency type IIHP:0040283 - Occasional71
HP:0008551HP:0008551Microtia0SMAD4 CL E G H40896770OMIM:139210Myhre syndrome.504
HP:0008551HP:0008551Microtia0SMARCA2 CL E G H659511098ORPHA:2728Blepharophimosis-intellectual disability syndrome, Ohdo typeHP:0040281 - Very frequent146
HP:0008551HP:0008551Microtia0SPEN CL E G H2301317575ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional4
HP:0008551HP:0008551Microtia0SPOP CL E G H840511254OMIM:618829NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS216
HP:0008551HP:0008551Microtia0STAG2 CL E G H1073511355OMIM:301043HOLOPROSENCEPHALY 13, X-LINKED; HPE131
HP:0008551HP:0008551Microtia0STAG2 CL E G H1073511355OMIM:301022Neurodevelopmental disorder, X-linked, with craniofacial abnormalities.1
HP:0008551HP:0008551Microtia0TBX15 CL E G H691311594OMIM:260660Cousin syndrome5
HP:0008551HP:0008551Microtia0TCOF1 CL E G H694911654OMIM:154500Treacher collins-franceschetti syndrome140
HP:0008551HP:0008551Microtia0TCOF1 CL E G H694911654ORPHA:861Treacher-Collins syndromeHP:0040282 - Frequent140
HP:0008551HP:0008551Microtia0TCTN3 CL E G H2612324519ORPHA:2753Orofaciodigital syndrome type 431
HP:0008551HP:0008551Microtia0TFAP2A CL E G H702011742OMIM:113620Branchiooculofacial syndrome.12
HP:0008551HP:0008551Microtia0TP63 CL E G H862615979OMIM:604292Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3.140
HP:0008551HP:0008551Microtia0TSR2 CL E G H9012125455ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare1
HP:0008551HP:0008551Microtia0TSR2 CL E G H9012125455OMIM:300946Diamond-Blackfan anemia 14 with mandibulofacial dysostosis.1
HP:0008551HP:0008551Microtia0TWIST1 CL E G H729112428ORPHA:794Saethre-Chotzen syndromeHP:0040282 - Frequent18
HP:0008551HP:0008551Microtia0TWIST1 CL E G H729112428OMIM:101400Saethre-Chotzen syndrome.18
HP:0008551HP:0008551Microtia0TWIST1 CL E G H729112428OMIM:617746Sweeney-Cox syndrome.18
HP:0008551HP:0008551Microtia0TWIST2 CL E G H11758120670ORPHA:920Ablepharon macrostomia syndromeHP:0040281 - Very frequent7
HP:0008551HP:0008551Microtia0TWIST2 CL E G H11758120670OMIM:200110Ablepharon-Macrostomia syndrome7
HP:0008551HP:0008551Microtia0TWIST2 CL E G H11758120670OMIM:209885Barber-Say syndrome7
HP:0008551HP:0008551Microtia0UBE4B CL E G H1027712500ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional
HP:0008551HP:0008551Microtia0WNT3 CL E G H747312782ORPHA:3301Tetraamelia-multiple malformations syndromeHP:0040281 - Very frequent12
HP:0008551HP:0008551Microtia0ZMYM2 CL E G H775012989OMIM:619522NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0008551HP:0008551Microtia0ZNF462 CL E G H5849921684OMIM:618619WEISS-KRUSZKA SYNDROME; WSKA4
HP:0008551HP:0008569Microtia, second degree1B3GLCT CL E G H14517320207ORPHA:709Peters plus syndromeHP:0040282 - Frequent36
HP:0008551HP:0008569Microtia, second degree1B3GLCT CL E G H14517320207OMIM:261540Peters-Plus syndrome.36
HP:0008551HP:0011267Microtia, third degree1CDC45 CL E G H83181739ORPHA:2554Ear-patella-short stature syndromeHP:0040281 - Very frequent9
HP:0008551HP:0011267Microtia, third degree1CDC6 CL E G H9901744ORPHA:2554Ear-patella-short stature syndromeHP:0040281 - Very frequent31
HP:0008551HP:0011267Microtia, third degree1CDT1 CL E G H8162024576ORPHA:2554Ear-patella-short stature syndromeHP:0040281 - Very frequent50
HP:0008551HP:0011267Microtia, third degree1FANCB CL E G H21873583ORPHA:3412VACTERL with hydrocephalusHP:0040283 - Occasional58
HP:0008551HP:0011266Microtia, first degree1FGF3 CL E G H22483681OMIM:610706Deafness, congenital, with inner ear agenesis, microtia, and microdontia.18
HP:0008551HP:0011267Microtia, third degree1GMNN CL E G H5105317493ORPHA:2554Ear-patella-short stature syndromeHP:0040281 - Very frequent3
HP:0008551HP:0011266Microtia, first degree1MED12 CL E G H996811957OMIM:305450Opitz-Kaveggia syndrome.228
HP:0008551HP:0011267Microtia, third degree1ORC1 CL E G H49988487ORPHA:2554Ear-patella-short stature syndromeHP:0040281 - Very frequent53
HP:0008551HP:0011267Microtia, third degree1ORC4 CL E G H50008490ORPHA:2554Ear-patella-short stature syndromeHP:0040281 - Very frequent21
HP:0008551HP:0011267Microtia, third degree1ORC6 CL E G H2359417151ORPHA:2554Ear-patella-short stature syndromeHP:0040281 - Very frequent39
HP:0008551HP:0011266Microtia, first degree1TBX15 CL E G H691311594OMIM:260660Cousin syndrome.5
HP:0008551HP:0011267Microtia, third degree1TCTN3 CL E G H2612324519ORPHA:2753Orofaciodigital syndrome type 4HP:0040281 - Very frequent31
HP:0008551HP:0011267Microtia, third degree1TWIST2 CL E G H11758120670OMIM:200110Ablepharon-Macrostomia syndrome.7
HP:0008551HP:0011266Microtia, first degree1TWIST2 CL E G H11758120670OMIM:200110Ablepharon-Macrostomia syndrome7
HP:0008551HP:0011266Microtia, first degree1TWIST2 CL E G H11758120670OMIM:209885Barber-Say syndrome7


Genes (163) :ABHD5 ADA2 ADNP AGA AMER1 ATRX B3GAT3 B3GLCT BMP2 BPTF CASZ1 CDC45 CDC6 CDT1 CENPJ CHD5 CHD7 CHST3 CNOT1 COG1 CPLX1 CRPPA CTBP1 DACT1 DCHS1 DHODH DLK1 EDNRA EFTUD2 EIF5A EYA1 FANCB FANCF FANCL FAT4 FBXO11 FGF10 FGF3 FGFR2 FGFR3 FIG4 FKRP FKTN GABRD GATA1 GBA1 GLI3 GMNN HDAC8 HIVEP2 HNRNPK HOXA13 HOXA2 HS6ST2 HSPA9 HSPG2 INTU ITGA6 ITGB4 KCNAB2 KCTD1 KIF15 LARGE1 LAS1L LETM1 LMBRD1 LUZP1 MAF MAN2C1 MAP1B MAPRE2 MBD5 MCM5 MED12 MEG3 MMP23B MSX2 NELFA NFIX NIN NSD2 ORC1 ORC4 ORC6 PAK1 PAM16 PBX1 PCGF2 PCNT PDPN PIGG PIGN PIK3CA 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 TP63 TSR2 TWIST1 TWIST2 UBE4B WNT3 ZMYM2 ZNF462

Diseases (140) :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: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 ORPHA:246 ORPHA:96334 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 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 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.