Human Phenotype Ontology 
Grandparent Node:
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Abnormal cornea morphology (HP:0000481)help
Parent Node:
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Abnormality of corneal size (HP:0001120)help
..Starting node
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Microcornea (HP:0000482)help
Term ID: 482
Name: Microcornea
Synonym: Cornea of eye less than 10mm in diameter; Decreased corneal diameter
Definition: A congenital abnormality of the cornea in which the cornea and the anterior segment of the eye are smaller than normal. The horizontal diameter of the cornea does not reach 10 mm even in adulthood.
Comments:
Reference: HP:0000482
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandCorneal asymmetry (HP:0009915) help
..expandMegalocornea (HP:0000485) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0000482HP:0000482Microcornea0ADAMTS18 CL E G H170692615458Microcornea, myopic chorioretinal atrophy, and telecanthus615458C3809567OMIM11719717110607512
HP:0000482HP:0000482Microcornea0ATOH7 CL E G H220202221900Persistent hyperplastic primary vitreous, autosomal recessive221900C1857299OMIM194113907609875
HP:0000482HP:0000482Microcornea0B3GLCT CL E G H145173709ORPHA11518120207610308
HP:0000482HP:0000482Microcornea0B9D1 CL E G H27077564ORPHA11015824123614144
HP:0000482HP:0000482Microcornea0B9D2 CL E G H80776564ORPHA144028636611951
HP:0000482HP:0000482Microcornea0BCOR CL E G H54880568Aggressive fibromatosisORPHA15541520893300485
HP:0000482HP:0000482Microcornea0BCOR CL E G H548802712HMG CoA synthetase deficiencyCN072869ORPHA15541520893300485
HP:0000482HP:0000482Microcornea0BCOR CL E G H54880309800Lenz microphthalmia syndrome309800C0796016OMIM15541520893300485
HP:0000482HP:0000482Microcornea0BCOR CL E G H54880300166Oculofaciocardiodental syndrome300166C1846265OMIM15541520893300485
HP:0000482HP:0000482Microcornea0BEST1 CL E G H7439193220Vitreoretinochoroidopathy193220C1860406OMIM131935412703607854
HP:0000482HP:0000482Microcornea0BMP4 CL E G H652139471ORPHA148891071112262
HP:0000482HP:0000482Microcornea0CC2D2A CL E G H57545564ORPHA19658429253612013
HP:0000482HP:0000482Microcornea0CENPF CL E G H1063243605Stromme syndrome243605C1855705OMIM181431857600236
HP:0000482HP:0000482Microcornea0CEP290 CL E G H80184564ORPHA131088429021610142
HP:0000482HP:0000482Microcornea0CEP55 CL E G H55165564ORPHA12341161610000
HP:0000482HP:0000482Microcornea0CHST14 CL E G H113189601776Ehlers-Danlos syndrome, musculocontractural type601776C1866294OMIM1229624464608429
HP:0000482HP:0000482Microcornea0CRYAA CL E G H14091377ORPHA1271292388123580
HP:0000482HP:0000482Microcornea0CRYBA4 CL E G H14131377ORPHA110842396123631
HP:0000482HP:0000482Microcornea0CRYBB1 CL E G H14141377ORPHA120652397600929
HP:0000482HP:0000482Microcornea0CRYBB2 CL E G H14151377ORPHA127532398123620
HP:0000482HP:0000482Microcornea0CRYGC CL E G H14201377ORPHA128502410123680
HP:0000482HP:0000482Microcornea0CRYGD CL E G H14211377ORPHA127732411123690
HP:0000482HP:0000482Microcornea0CSPP1 CL E G H79848564ORPHA12725726193611654
HP:0000482HP:0000482Microcornea0CTDP1 CL E G H9150604168Congenital Cataracts, Facial Dysmorphism, and Neuropathy604168C1858726OMIM112472498604927
HP:0000482HP:0000482Microcornea0DEAF1 CL E G H10522819ORPHA11712914677602635
HP:0000482HP:0000482Microcornea0ERCC6 CL E G H2074133540Cockayne syndrome B133540C0751038OMIM11404993438609413
HP:0000482HP:0000482Microcornea0FANCB CL E G H21873412ORPHA1213523583300515
HP:0000482HP:0000482Microcornea0FLI1 CL E G H23132308Fetal minoxidil syndromeORPHA171253749193067
HP:0000482HP:0000482Microcornea0FLII CL E G H2314819ORPHA121533750600362
HP:0000482HP:0000482Microcornea0FOXE3 CL E G H2301610256Congenital primary aphakia610256C1853230OMIM131863808601094
HP:0000482HP:0000482Microcornea0FOXL2 CL E G H668110100Blepharophimosis, ptosis, and epicanthus inversus110100C0220663OMIM12241661092605597
HP:0000482HP:0000482Microcornea0GJA1 CL E G H26972710Hm syndromeORPHA11091414274121014
HP:0000482HP:0000482Microcornea0GJA1 CL E G H2697164200Oculodentodigital dysplasia164200C0812437OMIM11091414274121014
HP:0000482HP:0000482Microcornea0GJA1 CL E G H2697257850Oculodentodigital dysplasia, autosomal recessive257850C2749477OMIM11091414274121014
HP:0000482HP:0000482Microcornea0GJA8 CL E G H27031377ORPHA1633474281600897
HP:0000482HP:0000482Microcornea0HDAC8 CL E G H55869199Cardiac hydatid cysts with intracavitary expansionORPHA15622713315300269
HP:0000482HP:0000482Microcornea0HMGB3 CL E G H3149300915Microphthalmia, syndromic 13300915C3806742OMIM111865004300193
HP:0000482HP:0000482Microcornea0HMX1 CL E G H3166612109Oculoauricular syndrome612109C2677500OMIM141055017142992
HP:0000482HP:0000482Microcornea0HSPG2 CL E G H3339255800Schwartz Jampel syndrome type 1255800C0036391OMIM1678625273142461
HP:0000482HP:0000482Microcornea0IQSEC2 CL E G H23096819ORPHA15753929059300522
HP:0000482HP:0000482Microcornea0JAG1 CL E G H182118450Alagille syndrome 1118450C1956125OMIM16206456188601920
HP:0000482HP:0000482Microcornea0KIF11 CL E G H3832152950Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation152950C1835265OMIM1701726388148760
HP:0000482HP:0000482Microcornea0KMT2A CL E G H4297199Cardiac hydatid cysts with intracavitary expansionORPHA11273797132159555
HP:0000482HP:0000482Microcornea0LMX1B CL E G H4010161200Nail-patella syndrome161200C0027341OMIM11953046654602575
HP:0000482HP:0000482Microcornea0MAF CL E G H40941377ORPHA1221726776177075
HP:0000482HP:0000482Microcornea0MAF CL E G H4094610202Cataract 21, multiple types610202C3888097OMIM1221726776177075
HP:0000482HP:0000482Microcornea0MAPRE2 CL E G H10982616734Skin creases, congenital symmetric circumferential, 2616734C4225225OMIM14606891605789
HP:0000482HP:0000482Microcornea0MED25 CL E G H81857616449Basel-Vanagaite-Smirin-Yosef syndrome616449C4225323OMIM1529728845610197
HP:0000482HP:0000482Microcornea0MIR184 CL E G H406960614303EDICT syndrome614303C3280392OMIM141931555613146
HP:0000482HP:0000482Microcornea0MKS1 CL E G H54903564ORPHA1523347121609883
HP:0000482HP:0000482Microcornea0NAA10 CL E G H8260568Aggressive fibromatosisORPHA11029618704300013
HP:0000482HP:0000482Microcornea0NAA10 CL E G H8260309800Lenz microphthalmia syndrome309800C0796016OMIM11029618704300013
HP:0000482HP:0000482Microcornea0NHS CL E G H4810627ORPHA1523537820300457
HP:0000482HP:0000482Microcornea0NHS CL E G H4810302350Nance-Horan syndrome302350C0796085OMIM1523537820300457
HP:0000482HP:0000482Microcornea0NIPBL CL E G H25836199Cardiac hydatid cysts with intracavitary expansionORPHA143780928862608667
HP:0000482HP:0000482Microcornea0NIPBL CL E G H25836122470Cornelia de Lange syndrome 1122470CN029798OMIM143780928862608667
HP:0000482HP:0000482Microcornea0OTX2 CL E G H5015610125Microphthalmia syndromic 5610125C1864690OMIM178988522600037
HP:0000482HP:0000482Microcornea0PITX2 CL E G H5308180500Axenfeld-Rieger syndrome type 1180500C3714873OMIM11041369005601542
HP:0000482HP:0000482Microcornea0PITX3 CL E G H5309107250Anterior segment mesenchymal dysgenesis107250C1862839OMIM115299006602669
HP:0000482HP:0000482Microcornea0PLK4 CL E G H10733616171Microcephaly and chorioretinopathy, autosomal recessive, 2616171C4015388OMIM169411397605031
HP:0000482HP:0000482Microcornea0PLOD1 CL E G H53511900ORPHA1424409081153454
HP:0000482HP:0000482Microcornea0PLOD1 CL E G H5351225400Ehlers-Danlos syndrome, hydroxylysine-deficient225400C0268342OMIM1424409081153454
HP:0000482HP:0000482Microcornea0RAB18 CL E G H229312510ORPHA1515414244602207
HP:0000482HP:0000482Microcornea0RAB18 CL E G H22931614222Warburg micro syndrome 3614222C3280203OMIM1515414244602207
HP:0000482HP:0000482Microcornea0RAB23 CL E G H51715201000Carpenter syndrome 1201000C1275078OMIM11510514263606144
HP:0000482HP:0000482Microcornea0RAB3GAP1 CL E G H229302510ORPHA16719317063602536
HP:0000482HP:0000482Microcornea0RAB3GAP1 CL E G H22930600118Warburg micro syndrome 1600118C1838625OMIM16719317063602536
HP:0000482HP:0000482Microcornea0RAB3GAP2 CL E G H257822510ORPHA11629417168609275
HP:0000482HP:0000482Microcornea0RAB3GAP2 CL E G H25782614225Warburg micro syndrome 2614225C3280214OMIM11629417168609275
HP:0000482HP:0000482Microcornea0RAD21 CL E G H5885199Cardiac hydatid cysts with intracavitary expansionORPHA1131499811606462
HP:0000482HP:0000482Microcornea0RAI1 CL E G H10743819ORPHA11164049834607642
HP:0000482HP:0000482Microcornea0RECQL4 CL E G H9401268400Rothmund-Thomson syndrome268400C0032339OMIM112220289949603780
HP:0000482HP:0000482Microcornea0RPGRIP1 CL E G H57096564ORPHA114936113436605446
HP:0000482HP:0000482Microcornea0RPGRIP1L CL E G H23322564ORPHA15143229168610937
HP:0000482HP:0000482Microcornea0RSPO2 CL E G H3404193301Lowry syndromeORPHA124128583610575
HP:0000482HP:0000482Microcornea0SC5D CL E G H630946059ORPHA1618210547602286
HP:0000482HP:0000482Microcornea0SETD5 CL E G H55209199Cardiac hydatid cysts with intracavitary expansionORPHA13823625566615743
HP:0000482HP:0000482Microcornea0SLC16A12 CL E G H387700612018Cataract, juvenile, with microcornea and glucosuria612018C2677587OMIM1182523094611910
HP:0000482HP:0000482Microcornea0SMC1A CL E G H8243199Cardiac hydatid cysts with intracavitary expansionORPHA110048411111300040
HP:0000482HP:0000482Microcornea0SMC3 CL E G H9126199Cardiac hydatid cysts with intracavitary expansionORPHA1282132468606062
HP:0000482HP:0000482Microcornea0TBC1D20 CL E G H1286372510ORPHA1710216133611663
HP:0000482HP:0000482Microcornea0TBC1D20 CL E G H128637615663Warburg micro syndrome 4615663C3810265OMIM1710216133611663
HP:0000482HP:0000482Microcornea0TBX15 CL E G H6913260660Cousin syndrome260660C1850040OMIM153811594604127
HP:0000482HP:0000482Microcornea0TCTN2 CL E G H79867564ORPHA11520325774613846
HP:0000482HP:0000482Microcornea0TENM3 CL E G H55714615145Microphthalmia, isolated, with coloboma 9615145C3554592OMIM1317829944610083
HP:0000482HP:0000482Microcornea0TMEM107 CL E G H84314564ORPHA138128128616183
HP:0000482HP:0000482Microcornea0TMEM216 CL E G H51259564ORPHA1810925018613277
HP:0000482HP:0000482Microcornea0TMEM231 CL E G H79583564ORPHA11915037234614949
HP:0000482HP:0000482Microcornea0TMEM67 CL E G H91147564ORPHA117431628396609884
HP:0000482HP:0000482Microcornea0UBE3B CL E G H899102707ORPHA1255413478608047
HP:0000482HP:0000482Microcornea0UBE3B CL E G H89910244450Kaufman oculocerebrofacial syndrome244450C1855663OMIM1255413478608047
HP:0000482HP:0000482Microcornea0WDPCP CL E G H51057564ORPHA1817628027613580
HP:0000482HP:0000482Microcornea0WNT3 CL E G H74733301Lowry syndromeORPHA122212782165330
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000482HP:0000482Microcornea0ACTB CL E G H602995Infant epilepsy with migrant focal crisisORPHA065224132102630
HP:0000482HP:0000482Microcornea0ACTG1 CL E G H712995Infant epilepsy with migrant focal crisisORPHA048261144102560
HP:0000482HP:0000482Microcornea0ANK1 CL E G H286251066ORPHA0111388492612641
HP:0000482HP:0000482Microcornea0B3GALNT2 CL E G H148789899ORPHA01622128596610194
HP:0000482HP:0000482Microcornea0B4GAT1 CL E G H11041899ORPHA078415685605517
HP:0000482HP:0000482Microcornea0BMP4 CL E G H652607932Microphthalmia syndromic 6607932C1864689OMIM048891071112262
HP:0000482HP:0000482Microcornea0CHN1 CL E G H1123233D ercole syndromeORPHA0111111943118423
HP:0000482HP:0000482Microcornea0COL1A1 CL E G H1277287ORPHA096711052197120150
HP:0000482HP:0000482Microcornea0COL25A1 CL E G H84570233D ercole syndromeORPHA044118603610004
HP:0000482HP:0000482Microcornea0COL4A1 CL E G H1282899ORPHA01144982202120130
HP:0000482HP:0000482Microcornea0COL4A1 CL E G H1282607595Brain small vessel disease with hemorrhage607595C1843512OMIM01144982202120130
HP:0000482HP:0000482Microcornea0COL5A1 CL E G H1289287ORPHA015916302209120215
HP:0000482HP:0000482Microcornea0COL5A2 CL E G H1290287ORPHA0397932210120190
HP:0000482HP:0000482Microcornea0CRYAA CL E G H1409604219Cataract, autosomal dominant604219C1858679OMIM0271292388123580
HP:0000482HP:0000482Microcornea0CRYBB1 CL E G H1414611544Cataract, congenital nuclear, autosomal recessive 3611544C1969062OMIM020652397600929
HP:0000482HP:0000482Microcornea0CRYGC CL E G H1420604307Cataract, coppock-like604307C1852438OMIM028502410123680
HP:0000482HP:0000482Microcornea0CTDP1 CL E G H915048431ORPHA012472498604927
HP:0000482HP:0000482Microcornea0DAG1 CL E G H1605899ORPHA0113012666128239
HP:0000482HP:0000482Microcornea0EBP CL E G H1068235173ORPHA0912373133300205
HP:0000482HP:0000482Microcornea0ERCC2 CL E G H2068601675Trichothiodystrophy 1, photosensitive601675C1866504OMIM01082273434126340
HP:0000482HP:0000482Microcornea0FGF3 CL E G H22482791ORPHA020353681164950
HP:0000482HP:0000482Microcornea0FKBP14 CL E G H55033300179ORPHA068618625614505
HP:0000482HP:0000482Microcornea0FKRP CL E G H79147899ORPHA014140217997606596
HP:0000482HP:0000482Microcornea0FKTN CL E G H2218899ORPHA0594503622607440
HP:0000482HP:0000482Microcornea0FOXE3 CL E G H230188632ORPHA031863808601094
HP:0000482HP:0000482Microcornea0GJA8 CL E G H2703116200Cataract 1116200C1861828OMIM0633474281600897
HP:0000482HP:0000482Microcornea0GORAB CL E G H923442078ORPHA01610825676607983
HP:0000482HP:0000482Microcornea0GTF2E2 CL E G H2961616943Trichothiodystrophy 6, nonphotosensitive616943C4310785OMIM02694651189964
HP:0000482HP:0000482Microcornea0HSPG2 CL E G H3339800ORPHA0678625273142461
HP:0000482HP:0000482Microcornea0ISPD CL E G H729920899ORPHA047537276614631
HP:0000482HP:0000482Microcornea0KDM6A CL E G H74032322ORPHA08131112637300128
HP:0000482HP:0000482Microcornea0KMT2D CL E G H80852322ORPHA071213507133602113
HP:0000482HP:0000482Microcornea0LARGE1 CL E G H9215899ORPHA0284066511603590
HP:0000482HP:0000482Microcornea0MAB21L2 CL E G H10586615877Microphthalmia/coloboma and skeletal dysplasia syndrome615877C4014540OMIM09426758604357
HP:0000482HP:0000482Microcornea0MAFB CL E G H9935233D ercole syndromeORPHA0251056408608968
HP:0000482HP:0000482Microcornea0MAPRE2 CL E G H109822505ORPHA04606891605789
HP:0000482HP:0000482Microcornea0MPLKIP CL E G H136647234050Trichothiodystrophy, nonphotosensitive 1234050C1961117OMIM0195016002609188
HP:0000482HP:0000482Microcornea0PITX3 CL E G H530988632ORPHA015299006602669
HP:0000482HP:0000482Microcornea0POMGNT1 CL E G H55624899ORPHA08946119139606822
HP:0000482HP:0000482Microcornea0POMGNT2 CL E G H84892899ORPHA0919125902614828
HP:0000482HP:0000482Microcornea0POMK CL E G H84197899ORPHA0814826267615247
HP:0000482HP:0000482Microcornea0POMT1 CL E G H10585899ORPHA0965089202607423
HP:0000482HP:0000482Microcornea0POMT2 CL E G H29954899ORPHA07550219743607439
HP:0000482HP:0000482Microcornea0PRSS56 CL E G H646960613517Microphthalmia, isolated 6613517C3150757OMIM0245839433613858
HP:0000482HP:0000482Microcornea0PXDN CL E G H7837269400Anterior segment dysgenesis 7269400C3151617OMIM01418514966605158
HP:0000482HP:0000482Microcornea0PYCR1 CL E G H58312078ORPHA0411449721179035
HP:0000482HP:0000482Microcornea0RAP1A CL E G H59062322ORPHA02209855179520
HP:0000482HP:0000482Microcornea0RAP1B CL E G H59082322ORPHA01199857179530
HP:0000482HP:0000482Microcornea0RBP4 CL E G H5950615147Retinal dystrophy, iris coloboma, and comedogenic acne syndrome615147C3554593OMIM08479922180250
HP:0000482HP:0000482Microcornea0RXYLT1 CL E G H10329899ORPHA0810613530605862
HP:0000482HP:0000482Microcornea0SALL4 CL E G H57167959ORPHA05714815924607343
HP:0000482HP:0000482Microcornea0TBL1XR1 CL E G H79718602342Pierpont syndrome602342C1865644OMIM02516129529608628
HP:0000482HP:0000482Microcornea0TBX22 CL E G H50945921Bone dysplasia corpus callosum agenesisORPHA03018811600300307
HP:0000482HP:0000482Microcornea0TFAP2A CL E G H70201297ORPHA0448211742107580
HP:0000482HP:0000482Microcornea0TUBB CL E G H2030682505ORPHA083320778191130
HP:0000482HP:0000482Microcornea0TUBB CL E G H203068156610Michelin-tire baby156610C0473586OMIM083320778191130


Genes (122) :ACTB ACTG1 ADAMTS18 ANK1 ATOH7 B3GALNT2 B3GLCT B4GAT1 B9D1 B9D2 BCOR BEST1 BMP4 CC2D2A CENPF CEP290 CEP55 CHN1 CHST14 COL1A1 COL25A1 COL4A1 COL5A1 COL5A2 CRPPA CRYAA CRYBA4 CRYBB1 CRYBB2 CRYGC CRYGD CSPP1 CTDP1 DAG1 DEAF1 EBP ERCC2 ERCC6 FANCB FGF3 FKBP14 FKRP FKTN FLI1 FLII FOXE3 FOXL2 GJA1 GJA8 GORAB GTF2E2 HDAC8 HMGB3 HMX1 HSPG2 IQSEC2 JAG1 KDM6A KIF11 KMT2A KMT2D LARGE1 LMX1B MAB21L2 MAF MAFB MAPRE2 MED25 MIR184 MKS1 MPLKIP NAA10 NHS NIPBL OTX2 PITX2 PITX3 PLK4 PLOD1 POMGNT1 POMGNT2 POMK POMT1 POMT2 PRSS56 PXDN PYCR1 RAB18 RAB23 RAB3GAP1 RAB3GAP2 RAD21 RAI1 RAP1A RAP1B RBP4 RECQL4 RPGRIP1 RPGRIP1L RSPO2 RXYLT1 SALL4 SC5D SETD5 SLC16A12 SMC1A SMC3 TBC1D20 TBL1XR1 TBX15 TBX22 TCTN2 TENM3 TFAP2A TMEM107 TMEM216 TMEM231 TMEM67 TUBB UBE3B WDPCP WNT3

Diseases (89) :2995 615458 251066 221900 899 709 564 568 2712 309800 300166 193220 139471 607932 243605 233 601776 287 607595 1377 604219 611544 604307 48431 604168 819 35173 601675 133540 3412 2791 300179 2308 88632 610256 110100 2710 164200 257850 116200 2078 616943 199 300915 612109 800 255800 118450 2322 152950 161200 615877 610202 2505 616734 616449 614303 234050 627 302350 122470 610125 180500 107250 616171 1900 225400 613517 269400 2510 614222 201000 600118 614225 615147 268400 3301 959 46059 612018 615663 602342 260660 921 615145 1297 156610 2707 244450
 

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