Human Phenotype Ontology 
Grandparent Node:
expand
Abnormal cornea morphology (HP:0000481)help
Parent Node:
expand
Abnormality of corneal size (HP:0001120)help
..Starting node
..expand
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 telecanthus615458C3809567OMIM166717110607512
HP:0000482HP:0000482Microcornea0ADAMTS18 CL E G H170692615458Microcornea, myopic chorioretinal atrophy, and telecanthus615458C3809567OMIM147117110607512
HP:0000482HP:0000482Microcornea0ATOH7 CL E G H220202221900Persistent hyperplastic primary vitreous, autosomal recessive221900C1857299OMIM110613907609875
HP:0000482HP:0000482Microcornea0ATOH7 CL E G H220202221900Persistent hyperplastic primary vitreous, autosomal recessive221900C1857299OMIM17513907609875
HP:0000482HP:0000482Microcornea0B3GLCT CL E G H145173709ORPHA124820207610308
HP:0000482HP:0000482Microcornea0B3GLCT CL E G H145173709ORPHA122620207610308
HP:0000482HP:0000482Microcornea0B9D1 CL E G H27077564ORPHA123024123614144
HP:0000482HP:0000482Microcornea0B9D1 CL E G H27077564ORPHA119624123614144
HP:0000482HP:0000482Microcornea0B9D2 CL E G H80776564ORPHA15028636611951
HP:0000482HP:0000482Microcornea0B9D2 CL E G H80776564ORPHA15828636611951
HP:0000482HP:0000482Microcornea0BCOR CL E G H54880568Aggressive fibromatosisORPHA150220893300485
HP:0000482HP:0000482Microcornea0BCOR CL E G H54880568Aggressive fibromatosisORPHA153620893300485
HP:0000482HP:0000482Microcornea0BCOR CL E G H548802712HMG CoA synthetase deficiencyCN072869ORPHA153620893300485
HP:0000482HP:0000482Microcornea0BCOR CL E G H548802712HMG CoA synthetase deficiencyCN072869ORPHA150220893300485
HP:0000482HP:0000482Microcornea0BCOR CL E G H54880309800Lenz microphthalmia syndrome309800C0796016OMIM153620893300485
HP:0000482HP:0000482Microcornea0BCOR CL E G H54880309800Lenz microphthalmia syndrome309800C0796016OMIM150220893300485
HP:0000482HP:0000482Microcornea0BCOR CL E G H54880300166Oculofaciocardiodental syndrome300166C1846265OMIM153620893300485
HP:0000482HP:0000482Microcornea0BCOR CL E G H54880300166Oculofaciocardiodental syndrome300166C1846265OMIM150220893300485
HP:0000482HP:0000482Microcornea0BEST1 CL E G H7439193220Vitreoretinochoroidopathy193220C1860406OMIM159512703607854
HP:0000482HP:0000482Microcornea0BEST1 CL E G H7439193220Vitreoretinochoroidopathy193220C1860406OMIM149912703607854
HP:0000482HP:0000482Microcornea0BMP4 CL E G H652139471ORPHA11291071112262
HP:0000482HP:0000482Microcornea0BMP4 CL E G H652139471ORPHA11121071112262
HP:0000482HP:0000482Microcornea0CC2D2A CL E G H57545564ORPHA1106429253612013
HP:0000482HP:0000482Microcornea0CC2D2A CL E G H57545564ORPHA188129253612013
HP:0000482HP:0000482Microcornea0CENPF CL E G H1063243605Stromme syndrome243605C1855705OMIM13521857600236
HP:0000482HP:0000482Microcornea0CENPF CL E G H1063243605Stromme syndrome243605C1855705OMIM13141857600236
HP:0000482HP:0000482Microcornea0CEP290 CL E G H80184564ORPHA1153529021610142
HP:0000482HP:0000482Microcornea0CEP290 CL E G H80184564ORPHA1190229021610142
HP:0000482HP:0000482Microcornea0CEP55 CL E G H55165564ORPHA1441161610000
HP:0000482HP:0000482Microcornea0CEP55 CL E G H55165564ORPHA1401161610000
HP:0000482HP:0000482Microcornea0CHST14 CL E G H113189601776Ehlers-Danlos syndrome, musculocontractural type601776C1866294OMIM116424464608429
HP:0000482HP:0000482Microcornea0CHST14 CL E G H113189601776Ehlers-Danlos syndrome, musculocontractural type601776C1866294OMIM113524464608429
HP:0000482HP:0000482Microcornea0CRYAA CL E G H14091377ORPHA11412388123580
HP:0000482HP:0000482Microcornea0CRYAA CL E G H14091377ORPHA11502388123580
HP:0000482HP:0000482Microcornea0CRYBA4 CL E G H14131377ORPHA11182396123631
HP:0000482HP:0000482Microcornea0CRYBA4 CL E G H14131377ORPHA11142396123631
HP:0000482HP:0000482Microcornea0CRYBB1 CL E G H14141377ORPHA1822397600929
HP:0000482HP:0000482Microcornea0CRYBB1 CL E G H14141377ORPHA1852397600929
HP:0000482HP:0000482Microcornea0CRYBB2 CL E G H14151377ORPHA11032398123620
HP:0000482HP:0000482Microcornea0CRYBB2 CL E G H14151377ORPHA1972398123620
HP:0000482HP:0000482Microcornea0CRYGC CL E G H14201377ORPHA1672410123680
HP:0000482HP:0000482Microcornea0CRYGC CL E G H14201377ORPHA1722410123680
HP:0000482HP:0000482Microcornea0CRYGD CL E G H14211377ORPHA1922411123690
HP:0000482HP:0000482Microcornea0CRYGD CL E G H14211377ORPHA1862411123690
HP:0000482HP:0000482Microcornea0CSPP1 CL E G H79848564ORPHA147626193611654
HP:0000482HP:0000482Microcornea0CSPP1 CL E G H79848564ORPHA168726193611654
HP:0000482HP:0000482Microcornea0CTDP1 CL E G H9150604168Congenital Cataracts, Facial Dysmorphism, and Neuropathy604168C1858726OMIM13482498604927
HP:0000482HP:0000482Microcornea0CTDP1 CL E G H9150604168Congenital Cataracts, Facial Dysmorphism, and Neuropathy604168C1858726OMIM13232498604927
HP:0000482HP:0000482Microcornea0DEAF1 CL E G H10522819ORPHA131114677602635
HP:0000482HP:0000482Microcornea0DEAF1 CL E G H10522819ORPHA117914677602635
HP:0000482HP:0000482Microcornea0ERCC6 CL E G H2074133540Cockayne syndrome B133540C0751038OMIM19463438609413
HP:0000482HP:0000482Microcornea0ERCC6 CL E G H2074133540Cockayne syndrome B133540C0751038OMIM18253438609413
HP:0000482HP:0000482Microcornea0FANCB CL E G H21873412ORPHA14813583300515
HP:0000482HP:0000482Microcornea0FANCB CL E G H21873412ORPHA14103583300515
HP:0000482HP:0000482Microcornea0FLI1 CL E G H23132308Fetal minoxidil syndromeORPHA11743749193067
HP:0000482HP:0000482Microcornea0FLI1 CL E G H23132308Fetal minoxidil syndromeORPHA11723749193067
HP:0000482HP:0000482Microcornea0FLII CL E G H2314819ORPHA11553750600362
HP:0000482HP:0000482Microcornea0FLII CL E G H2314819ORPHA11583750600362
HP:0000482HP:0000482Microcornea0FOXE3 CL E G H2301610256Congenital primary aphakia610256C1853230OMIM11763808601094
HP:0000482HP:0000482Microcornea0FOXE3 CL E G H2301610256Congenital primary aphakia610256C1853230OMIM11523808601094
HP:0000482HP:0000482Microcornea0FOXL2 CL E G H668110100Blepharophimosis, ptosis, and epicanthus inversus110100C0220663OMIM11751092605597
HP:0000482HP:0000482Microcornea0FOXL2 CL E G H668110100Blepharophimosis, ptosis, and epicanthus inversus110100C0220663OMIM11731092605597
HP:0000482HP:0000482Microcornea0GJA1 CL E G H26972710Hm syndromeORPHA11914274121014
HP:0000482HP:0000482Microcornea0GJA1 CL E G H26972710Hm syndromeORPHA11694274121014
HP:0000482HP:0000482Microcornea0GJA1 CL E G H2697164200Oculodentodigital dysplasia164200C0812437OMIM11914274121014
HP:0000482HP:0000482Microcornea0GJA1 CL E G H2697164200Oculodentodigital dysplasia164200C0812437OMIM11694274121014
HP:0000482HP:0000482Microcornea0GJA1 CL E G H2697257850Oculodentodigital dysplasia, autosomal recessive257850C2749477OMIM11914274121014
HP:0000482HP:0000482Microcornea0GJA1 CL E G H2697257850Oculodentodigital dysplasia, autosomal recessive257850C2749477OMIM11694274121014
HP:0000482HP:0000482Microcornea0GJA8 CL E G H27031377ORPHA13764281600897
HP:0000482HP:0000482Microcornea0GJA8 CL E G H27031377ORPHA13914281600897
HP:0000482HP:0000482Microcornea0HDAC8 CL E G H55869199Cardiac hydatid cysts with intracavitary expansionORPHA126913315300269
HP:0000482HP:0000482Microcornea0HDAC8 CL E G H55869199Cardiac hydatid cysts with intracavitary expansionORPHA128713315300269
HP:0000482HP:0000482Microcornea0HMGB3 CL E G H3149300915Microphthalmia, syndromic 13300915C3806742OMIM11925004300193
HP:0000482HP:0000482Microcornea0HMGB3 CL E G H3149300915Microphthalmia, syndromic 13300915C3806742OMIM11895004300193
HP:0000482HP:0000482Microcornea0HMX1 CL E G H3166612109Oculoauricular syndrome612109C2677500OMIM12575017142992
HP:0000482HP:0000482Microcornea0HMX1 CL E G H3166612109Oculoauricular syndrome612109C2677500OMIM11945017142992
HP:0000482HP:0000482Microcornea0HSPG2 CL E G H3339255800Schwartz Jampel syndrome type 1255800C0036391OMIM116005273142461
HP:0000482HP:0000482Microcornea0HSPG2 CL E G H3339255800Schwartz Jampel syndrome type 1255800C0036391OMIM113275273142461
HP:0000482HP:0000482Microcornea0IQSEC2 CL E G H23096819ORPHA183229059300522
HP:0000482HP:0000482Microcornea0IQSEC2 CL E G H23096819ORPHA175329059300522
HP:0000482HP:0000482Microcornea0JAG1 CL E G H182118450Alagille syndrome 1118450C1956125OMIM110686188601920
HP:0000482HP:0000482Microcornea0JAG1 CL E G H182118450Alagille syndrome 1118450C1956125OMIM19066188601920
HP:0000482HP:0000482Microcornea0KIF11 CL E G H3832152950Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation152950C1835265OMIM14986388148760
HP:0000482HP:0000482Microcornea0KIF11 CL E G H3832152950Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation152950C1835265OMIM14056388148760
HP:0000482HP:0000482Microcornea0KMT2A CL E G H4297199Cardiac hydatid cysts with intracavitary expansionORPHA19747132159555
HP:0000482HP:0000482Microcornea0KMT2A CL E G H4297199Cardiac hydatid cysts with intracavitary expansionORPHA16737132159555
HP:0000482HP:0000482Microcornea0LMX1B CL E G H4010161200Nail-patella syndrome161200C0027341OMIM14306654602575
HP:0000482HP:0000482Microcornea0LMX1B CL E G H4010161200Nail-patella syndrome161200C0027341OMIM13746654602575
HP:0000482HP:0000482Microcornea0MAF CL E G H40941377ORPHA12786776177075
HP:0000482HP:0000482Microcornea0MAF CL E G H40941377ORPHA12476776177075
HP:0000482HP:0000482Microcornea0MAF CL E G H4094610202Cataract 21, multiple types610202C3888097OMIM12786776177075
HP:0000482HP:0000482Microcornea0MAF CL E G H4094610202Cataract 21, multiple types610202C3888097OMIM12476776177075
HP:0000482HP:0000482Microcornea0MAPRE2 CL E G H10982616734Skin creases, congenital symmetric circumferential, 2616734C4225225OMIM1626891605789
HP:0000482HP:0000482Microcornea0MED25 CL E G H81857616449Basel-Vanagaite-Smirin-Yosef syndrome616449C4225323OMIM146428845610197
HP:0000482HP:0000482Microcornea0MED25 CL E G H81857616449Basel-Vanagaite-Smirin-Yosef syndrome616449C4225323OMIM139728845610197
HP:0000482HP:0000482Microcornea0MIR184 CL E G H406960614303EDICT syndrome614303C3280392OMIM12631555613146
HP:0000482HP:0000482Microcornea0MKS1 CL E G H54903564ORPHA15537121609883
HP:0000482HP:0000482Microcornea0MKS1 CL E G H54903564ORPHA14777121609883
HP:0000482HP:0000482Microcornea0NAA10 CL E G H8260568Aggressive fibromatosisORPHA134818704300013
HP:0000482HP:0000482Microcornea0NAA10 CL E G H8260568Aggressive fibromatosisORPHA133318704300013
HP:0000482HP:0000482Microcornea0NAA10 CL E G H8260309800Lenz microphthalmia syndrome309800C0796016OMIM134818704300013
HP:0000482HP:0000482Microcornea0NAA10 CL E G H8260309800Lenz microphthalmia syndrome309800C0796016OMIM133318704300013
HP:0000482HP:0000482Microcornea0NHS CL E G H4810627ORPHA14057820300457
HP:0000482HP:0000482Microcornea0NHS CL E G H4810627ORPHA14217820300457
HP:0000482HP:0000482Microcornea0NHS CL E G H4810302350Nance-Horan syndrome302350C0796085OMIM14217820300457
HP:0000482HP:0000482Microcornea0NHS CL E G H4810302350Nance-Horan syndrome302350C0796085OMIM14057820300457
HP:0000482HP:0000482Microcornea0NIPBL CL E G H25836199Cardiac hydatid cysts with intracavitary expansionORPHA1100328862608667
HP:0000482HP:0000482Microcornea0NIPBL CL E G H25836199Cardiac hydatid cysts with intracavitary expansionORPHA1106928862608667
HP:0000482HP:0000482Microcornea0NIPBL CL E G H25836122470Cornelia de Lange syndrome 1122470CN029798OMIM1106928862608667
HP:0000482HP:0000482Microcornea0NIPBL CL E G H25836122470Cornelia de Lange syndrome 1122470CN029798OMIM1100328862608667
HP:0000482HP:0000482Microcornea0OTX2 CL E G H5015610125Microphthalmia syndromic 5610125C1864690OMIM11628522600037
HP:0000482HP:0000482Microcornea0OTX2 CL E G H5015610125Microphthalmia syndromic 5610125C1864690OMIM11388522600037
HP:0000482HP:0000482Microcornea0PITX2 CL E G H5308180500Axenfeld-Rieger syndrome type 1180500C3714873OMIM11749005601542
HP:0000482HP:0000482Microcornea0PITX2 CL E G H5308180500Axenfeld-Rieger syndrome type 1180500C3714873OMIM11669005601542
HP:0000482HP:0000482Microcornea0PITX3 CL E G H5309107250Anterior segment mesenchymal dysgenesis107250C1862839OMIM1419006602669
HP:0000482HP:0000482Microcornea0PITX3 CL E G H5309107250Anterior segment mesenchymal dysgenesis107250C1862839OMIM1399006602669
HP:0000482HP:0000482Microcornea0PLK4 CL E G H10733616171Microcephaly and chorioretinopathy, autosomal recessive, 2616171C4015388OMIM133911397605031
HP:0000482HP:0000482Microcornea0PLK4 CL E G H10733616171Microcephaly and chorioretinopathy, autosomal recessive, 2616171C4015388OMIM121911397605031
HP:0000482HP:0000482Microcornea0PLOD1 CL E G H53511900ORPHA15859081153454
HP:0000482HP:0000482Microcornea0PLOD1 CL E G H53511900ORPHA16619081153454
HP:0000482HP:0000482Microcornea0PLOD1 CL E G H5351225400Ehlers-Danlos syndrome, hydroxylysine-deficient225400C0268342OMIM16619081153454
HP:0000482HP:0000482Microcornea0PLOD1 CL E G H5351225400Ehlers-Danlos syndrome, hydroxylysine-deficient225400C0268342OMIM15859081153454
HP:0000482HP:0000482Microcornea0RAB18 CL E G H229312510ORPHA117514244602207
HP:0000482HP:0000482Microcornea0RAB18 CL E G H229312510ORPHA117014244602207
HP:0000482HP:0000482Microcornea0RAB18 CL E G H22931614222Warburg micro syndrome 3614222C3280203OMIM117514244602207
HP:0000482HP:0000482Microcornea0RAB18 CL E G H22931614222Warburg micro syndrome 3614222C3280203OMIM117014244602207
HP:0000482HP:0000482Microcornea0RAB23 CL E G H51715201000Carpenter syndrome 1201000C1275078OMIM115814263606144
HP:0000482HP:0000482Microcornea0RAB23 CL E G H51715201000Carpenter syndrome 1201000C1275078OMIM115214263606144
HP:0000482HP:0000482Microcornea0RAB3GAP1 CL E G H229302510ORPHA129017063602536
HP:0000482HP:0000482Microcornea0RAB3GAP1 CL E G H229302510ORPHA127017063602536
HP:0000482HP:0000482Microcornea0RAB3GAP1 CL E G H22930600118Warburg micro syndrome 1600118C1838625OMIM129017063602536
HP:0000482HP:0000482Microcornea0RAB3GAP1 CL E G H22930600118Warburg micro syndrome 1600118C1838625OMIM127017063602536
HP:0000482HP:0000482Microcornea0RAB3GAP2 CL E G H257822510ORPHA144117168609275
HP:0000482HP:0000482Microcornea0RAB3GAP2 CL E G H257822510ORPHA141017168609275
HP:0000482HP:0000482Microcornea0RAB3GAP2 CL E G H25782614225Warburg micro syndrome 2614225C3280214OMIM141017168609275
HP:0000482HP:0000482Microcornea0RAB3GAP2 CL E G H25782614225Warburg micro syndrome 2614225C3280214OMIM144117168609275
HP:0000482HP:0000482Microcornea0RAD21 CL E G H5885199Cardiac hydatid cysts with intracavitary expansionORPHA12549811606462
HP:0000482HP:0000482Microcornea0RAD21 CL E G H5885199Cardiac hydatid cysts with intracavitary expansionORPHA12399811606462
HP:0000482HP:0000482Microcornea0RAI1 CL E G H10743819ORPHA15159834607642
HP:0000482HP:0000482Microcornea0RAI1 CL E G H10743819ORPHA18069834607642
HP:0000482HP:0000482Microcornea0RECQL4 CL E G H9401268400Rothmund-Thomson syndrome268400C0032339OMIM132749949603780
HP:0000482HP:0000482Microcornea0RECQL4 CL E G H9401268400Rothmund-Thomson syndrome268400C0032339OMIM127519949603780
HP:0000482HP:0000482Microcornea0RPGRIP1 CL E G H57096564ORPHA157013436605446
HP:0000482HP:0000482Microcornea0RPGRIP1 CL E G H57096564ORPHA170813436605446
HP:0000482HP:0000482Microcornea0RPGRIP1L CL E G H23322564ORPHA196429168610937
HP:0000482HP:0000482Microcornea0RPGRIP1L CL E G H23322564ORPHA179429168610937
HP:0000482HP:0000482Microcornea0RSPO2 CL E G H3404193301Lowry syndromeORPHA14928583610575
HP:0000482HP:0000482Microcornea0RSPO2 CL E G H3404193301Lowry syndromeORPHA14828583610575
HP:0000482HP:0000482Microcornea0SC5D CL E G H630946059ORPHA120710547602286
HP:0000482HP:0000482Microcornea0SC5D CL E G H630946059ORPHA118910547602286
HP:0000482HP:0000482Microcornea0SETD5 CL E G H55209199Cardiac hydatid cysts with intracavitary expansionORPHA141825566615743
HP:0000482HP:0000482Microcornea0SETD5 CL E G H55209199Cardiac hydatid cysts with intracavitary expansionORPHA149225566615743
HP:0000482HP:0000482Microcornea0SLC16A12 CL E G H387700612018Cataract, juvenile, with microcornea and glucosuria612018C2677587OMIM14123094611910
HP:0000482HP:0000482Microcornea0SMC1A CL E G H8243199Cardiac hydatid cysts with intracavitary expansionORPHA169011111300040
HP:0000482HP:0000482Microcornea0SMC1A CL E G H8243199Cardiac hydatid cysts with intracavitary expansionORPHA163511111300040
HP:0000482HP:0000482Microcornea0SMC3 CL E G H9126199Cardiac hydatid cysts with intracavitary expansionORPHA13112468606062
HP:0000482HP:0000482Microcornea0SMC3 CL E G H9126199Cardiac hydatid cysts with intracavitary expansionORPHA13222468606062
HP:0000482HP:0000482Microcornea0TBC1D20 CL E G H1286372510ORPHA114216133611663
HP:0000482HP:0000482Microcornea0TBC1D20 CL E G H1286372510ORPHA113516133611663
HP:0000482HP:0000482Microcornea0TBC1D20 CL E G H128637615663Warburg micro syndrome 4615663C3810265OMIM114216133611663
HP:0000482HP:0000482Microcornea0TBC1D20 CL E G H128637615663Warburg micro syndrome 4615663C3810265OMIM113516133611663
HP:0000482HP:0000482Microcornea0TBX15 CL E G H6913260660Cousin syndrome260660C1850040OMIM111011594604127
HP:0000482HP:0000482Microcornea0TBX15 CL E G H6913260660Cousin syndrome260660C1850040OMIM18511594604127
HP:0000482HP:0000482Microcornea0TCTN2 CL E G H79867564ORPHA128125774613846
HP:0000482HP:0000482Microcornea0TCTN2 CL E G H79867564ORPHA139025774613846
HP:0000482HP:0000482Microcornea0TENM3 CL E G H55714615145Microphthalmia, isolated, with coloboma 9615145C3554592OMIM126729944610083
HP:0000482HP:0000482Microcornea0TENM3 CL E G H55714615145Microphthalmia, isolated, with coloboma 9615145C3554592OMIM126529944610083
HP:0000482HP:0000482Microcornea0TMEM107 CL E G H84314564ORPHA116128128616183
HP:0000482HP:0000482Microcornea0TMEM107 CL E G H84314564ORPHA110128128616183
HP:0000482HP:0000482Microcornea0TMEM216 CL E G H51259564ORPHA115125018613277
HP:0000482HP:0000482Microcornea0TMEM216 CL E G H51259564ORPHA116825018613277
HP:0000482HP:0000482Microcornea0TMEM231 CL E G H79583564ORPHA129937234614949
HP:0000482HP:0000482Microcornea0TMEM231 CL E G H79583564ORPHA120937234614949
HP:0000482HP:0000482Microcornea0TMEM67 CL E G H91147564ORPHA140228396609884
HP:0000482HP:0000482Microcornea0TMEM67 CL E G H91147564ORPHA156928396609884
HP:0000482HP:0000482Microcornea0UBE3B CL E G H899102707ORPHA17713478608047
HP:0000482HP:0000482Microcornea0UBE3B CL E G H899102707ORPHA16913478608047
HP:0000482HP:0000482Microcornea0UBE3B CL E G H89910244450Kaufman oculocerebrofacial syndrome244450C1855663OMIM17713478608047
HP:0000482HP:0000482Microcornea0UBE3B CL E G H89910244450Kaufman oculocerebrofacial syndrome244450C1855663OMIM16913478608047
HP:0000482HP:0000482Microcornea0WDPCP CL E G H51057564ORPHA136728027613580
HP:0000482HP:0000482Microcornea0WDPCP CL E G H51057564ORPHA127528027613580
HP:0000482HP:0000482Microcornea0WNT3 CL E G H74733301Lowry syndromeORPHA15112782165330
HP:0000482HP:0000482Microcornea0WNT3 CL E G H74733301Lowry syndromeORPHA14112782165330
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000482HP:0000482Microcornea0ACTB CL E G H602995Infant epilepsy with migrant focal crisisORPHA0349132102630
HP:0000482HP:0000482Microcornea0ACTB CL E G H602995Infant epilepsy with migrant focal crisisORPHA0322132102630
HP:0000482HP:0000482Microcornea0ACTG1 CL E G H712995Infant epilepsy with migrant focal crisisORPHA0370144102560
HP:0000482HP:0000482Microcornea0ACTG1 CL E G H712995Infant epilepsy with migrant focal crisisORPHA0347144102560
HP:0000482HP:0000482Microcornea0ANK1 CL E G H286251066ORPHA0604492612641
HP:0000482HP:0000482Microcornea0ANK1 CL E G H286251066ORPHA0567492612641
HP:0000482HP:0000482Microcornea0B3GALNT2 CL E G H148789899ORPHA041128596610194
HP:0000482HP:0000482Microcornea0B3GALNT2 CL E G H148789899ORPHA034328596610194
HP:0000482HP:0000482Microcornea0B4GAT1 CL E G H11041899ORPHA012215685605517
HP:0000482HP:0000482Microcornea0B4GAT1 CL E G H11041899ORPHA015115685605517
HP:0000482HP:0000482Microcornea0BMP4 CL E G H652607932Microphthalmia syndromic 6607932C1864689OMIM01291071112262
HP:0000482HP:0000482Microcornea0BMP4 CL E G H652607932Microphthalmia syndromic 6607932C1864689OMIM01121071112262
HP:0000482HP:0000482Microcornea0CHN1 CL E G H1123233D ercole syndromeORPHA01171943118423
HP:0000482HP:0000482Microcornea0CHN1 CL E G H1123233D ercole syndromeORPHA01161943118423
HP:0000482HP:0000482Microcornea0COL1A1 CL E G H1277287ORPHA013972197120150
HP:0000482HP:0000482Microcornea0COL1A1 CL E G H1277287ORPHA016552197120150
HP:0000482HP:0000482Microcornea0COL25A1 CL E G H84570233D ercole syndromeORPHA04318603610004
HP:0000482HP:0000482Microcornea0COL25A1 CL E G H84570233D ercole syndromeORPHA04618603610004
HP:0000482HP:0000482Microcornea0COL4A1 CL E G H1282899ORPHA010102202120130
HP:0000482HP:0000482Microcornea0COL4A1 CL E G H1282899ORPHA08372202120130
HP:0000482HP:0000482Microcornea0COL4A1 CL E G H1282607595Brain small vessel disease with hemorrhage607595C1843512OMIM010102202120130
HP:0000482HP:0000482Microcornea0COL4A1 CL E G H1282607595Brain small vessel disease with hemorrhage607595C1843512OMIM08372202120130
HP:0000482HP:0000482Microcornea0COL5A1 CL E G H1289287ORPHA022462209120215
HP:0000482HP:0000482Microcornea0COL5A1 CL E G H1289287ORPHA020772209120215
HP:0000482HP:0000482Microcornea0COL5A2 CL E G H1290287ORPHA010302210120190
HP:0000482HP:0000482Microcornea0COL5A2 CL E G H1290287ORPHA011212210120190
HP:0000482HP:0000482Microcornea0CRYAA CL E G H1409604219Cataract, autosomal dominant604219C1858679OMIM01502388123580
HP:0000482HP:0000482Microcornea0CRYAA CL E G H1409604219Cataract, autosomal dominant604219C1858679OMIM01412388123580
HP:0000482HP:0000482Microcornea0CRYBB1 CL E G H1414611544Cataract, congenital nuclear, autosomal recessive 3611544C1969062OMIM0852397600929
HP:0000482HP:0000482Microcornea0CRYBB1 CL E G H1414611544Cataract, congenital nuclear, autosomal recessive 3611544C1969062OMIM0822397600929
HP:0000482HP:0000482Microcornea0CRYGC CL E G H1420604307Cataract, coppock-like604307C1852438OMIM0722410123680
HP:0000482HP:0000482Microcornea0CRYGC CL E G H1420604307Cataract, coppock-like604307C1852438OMIM0672410123680
HP:0000482HP:0000482Microcornea0CTDP1 CL E G H915048431ORPHA03482498604927
HP:0000482HP:0000482Microcornea0CTDP1 CL E G H915048431ORPHA03232498604927
HP:0000482HP:0000482Microcornea0DAG1 CL E G H1605899ORPHA04672666128239
HP:0000482HP:0000482Microcornea0DAG1 CL E G H1605899ORPHA03762666128239
HP:0000482HP:0000482Microcornea0EBP CL E G H1068235173ORPHA02863133300205
HP:0000482HP:0000482Microcornea0EBP CL E G H1068235173ORPHA02653133300205
HP:0000482HP:0000482Microcornea0ERCC2 CL E G H2068601675Trichothiodystrophy 1, photosensitive601675C1866504OMIM04793434126340
HP:0000482HP:0000482Microcornea0ERCC2 CL E G H2068601675Trichothiodystrophy 1, photosensitive601675C1866504OMIM03603434126340
HP:0000482HP:0000482Microcornea0FGF3 CL E G H22482791ORPHA0723681164950
HP:0000482HP:0000482Microcornea0FGF3 CL E G H22482791ORPHA0613681164950
HP:0000482HP:0000482Microcornea0FKBP14 CL E G H55033300179ORPHA014418625614505
HP:0000482HP:0000482Microcornea0FKBP14 CL E G H55033300179ORPHA011818625614505
HP:0000482HP:0000482Microcornea0FKRP CL E G H79147899ORPHA057217997606596
HP:0000482HP:0000482Microcornea0FKRP CL E G H79147899ORPHA067117997606596
HP:0000482HP:0000482Microcornea0FKTN CL E G H2218899ORPHA06793622607440
HP:0000482HP:0000482Microcornea0FKTN CL E G H2218899ORPHA05993622607440
HP:0000482HP:0000482Microcornea0FOXE3 CL E G H230188632ORPHA01763808601094
HP:0000482HP:0000482Microcornea0FOXE3 CL E G H230188632ORPHA01523808601094
HP:0000482HP:0000482Microcornea0GJA8 CL E G H2703116200Cataract 1116200C1861828OMIM03914281600897
HP:0000482HP:0000482Microcornea0GJA8 CL E G H2703116200Cataract 1116200C1861828OMIM03764281600897
HP:0000482HP:0000482Microcornea0GORAB CL E G H923442078ORPHA017425676607983
HP:0000482HP:0000482Microcornea0GORAB CL E G H923442078ORPHA013025676607983
HP:0000482HP:0000482Microcornea0GTF2E2 CL E G H2961616943Trichothiodystrophy 6, nonphotosensitive616943C4310785OMIM01164651189964
HP:0000482HP:0000482Microcornea0GTF2E2 CL E G H2961616943Trichothiodystrophy 6, nonphotosensitive616943C4310785OMIM0904651189964
HP:0000482HP:0000482Microcornea0HSPG2 CL E G H3339800ORPHA013275273142461
HP:0000482HP:0000482Microcornea0HSPG2 CL E G H3339800ORPHA016005273142461
HP:0000482HP:0000482Microcornea0ISPD CL E G H729920899ORPHA054537276614631
HP:0000482HP:0000482Microcornea0ISPD CL E G H729920899ORPHA054937276614631
HP:0000482HP:0000482Microcornea0KDM6A CL E G H74032322ORPHA050212637300128
HP:0000482HP:0000482Microcornea0KDM6A CL E G H74032322ORPHA056212637300128
HP:0000482HP:0000482Microcornea0KMT2D CL E G H80852322ORPHA023717133602113
HP:0000482HP:0000482Microcornea0KMT2D CL E G H80852322ORPHA018287133602113
HP:0000482HP:0000482Microcornea0LARGE1 CL E G H9215899ORPHA05166511603590
HP:0000482HP:0000482Microcornea0LARGE1 CL E G H9215899ORPHA05976511603590
HP:0000482HP:0000482Microcornea0MAB21L2 CL E G H10586615877Microphthalmia/coloboma and skeletal dysplasia syndrome615877C4014540OMIM0566758604357
HP:0000482HP:0000482Microcornea0MAB21L2 CL E G H10586615877Microphthalmia/coloboma and skeletal dysplasia syndrome615877C4014540OMIM0546758604357
HP:0000482HP:0000482Microcornea0MAFB CL E G H9935233D ercole syndromeORPHA01126408608968
HP:0000482HP:0000482Microcornea0MAFB CL E G H9935233D ercole syndromeORPHA01056408608968
HP:0000482HP:0000482Microcornea0MAPRE2 CL E G H109822505ORPHA0626891605789
HP:0000482HP:0000482Microcornea0MPLKIP CL E G H136647234050Trichothiodystrophy, nonphotosensitive 1234050C1961117OMIM09216002609188
HP:0000482HP:0000482Microcornea0MPLKIP CL E G H136647234050Trichothiodystrophy, nonphotosensitive 1234050C1961117OMIM06316002609188
HP:0000482HP:0000482Microcornea0PITX3 CL E G H530988632ORPHA0419006602669
HP:0000482HP:0000482Microcornea0PITX3 CL E G H530988632ORPHA0399006602669
HP:0000482HP:0000482Microcornea0POMGNT1 CL E G H55624899ORPHA079719139606822
HP:0000482HP:0000482Microcornea0POMGNT1 CL E G H55624899ORPHA066219139606822
HP:0000482HP:0000482Microcornea0POMGNT2 CL E G H84892899ORPHA026725902614828
HP:0000482HP:0000482Microcornea0POMGNT2 CL E G H84892899ORPHA032225902614828
HP:0000482HP:0000482Microcornea0POMK CL E G H84197899ORPHA022426267615247
HP:0000482HP:0000482Microcornea0POMK CL E G H84197899ORPHA019226267615247
HP:0000482HP:0000482Microcornea0POMT1 CL E G H10585899ORPHA06099202607423
HP:0000482HP:0000482Microcornea0POMT1 CL E G H10585899ORPHA06869202607423
HP:0000482HP:0000482Microcornea0POMT2 CL E G H29954899ORPHA069119743607439
HP:0000482HP:0000482Microcornea0POMT2 CL E G H29954899ORPHA060419743607439
HP:0000482HP:0000482Microcornea0PRSS56 CL E G H646960613517Microphthalmia, isolated 6613517C3150757OMIM09639433613858
HP:0000482HP:0000482Microcornea0PRSS56 CL E G H646960613517Microphthalmia, isolated 6613517C3150757OMIM011039433613858
HP:0000482HP:0000482Microcornea0PXDN CL E G H7837269400Anterior segment dysgenesis 7269400C3151617OMIM032914966605158
HP:0000482HP:0000482Microcornea0PXDN CL E G H7837269400Anterior segment dysgenesis 7269400C3151617OMIM030814966605158
HP:0000482HP:0000482Microcornea0PYCR1 CL E G H58312078ORPHA01749721179035
HP:0000482HP:0000482Microcornea0PYCR1 CL E G H58312078ORPHA01939721179035
HP:0000482HP:0000482Microcornea0RAP1A CL E G H59062322ORPHA0369855179520
HP:0000482HP:0000482Microcornea0RAP1B CL E G H59082322ORPHA0339857179530
HP:0000482HP:0000482Microcornea0RBP4 CL E G H5950615147Retinal dystrophy, iris coloboma, and comedogenic acne syndrome615147C3554593OMIM01169922180250
HP:0000482HP:0000482Microcornea0RBP4 CL E G H5950615147Retinal dystrophy, iris coloboma, and comedogenic acne syndrome615147C3554593OMIM0929922180250
HP:0000482HP:0000482Microcornea0RXYLT1 CL E G H10329899ORPHA015913530605862
HP:0000482HP:0000482Microcornea0RXYLT1 CL E G H10329899ORPHA019413530605862
HP:0000482HP:0000482Microcornea0SALL4 CL E G H57167959ORPHA017815924607343
HP:0000482HP:0000482Microcornea0SALL4 CL E G H57167959ORPHA019815924607343
HP:0000482HP:0000482Microcornea0TBL1XR1 CL E G H79718602342Pierpont syndrome602342C1865644OMIM032429529608628
HP:0000482HP:0000482Microcornea0TBL1XR1 CL E G H79718602342Pierpont syndrome602342C1865644OMIM028329529608628
HP:0000482HP:0000482Microcornea0TBX22 CL E G H50945921Bone dysplasia corpus callosum agenesisORPHA021211600300307
HP:0000482HP:0000482Microcornea0TBX22 CL E G H50945921Bone dysplasia corpus callosum agenesisORPHA020911600300307
HP:0000482HP:0000482Microcornea0TFAP2A CL E G H70201297ORPHA014211742107580
HP:0000482HP:0000482Microcornea0TFAP2A CL E G H70201297ORPHA013211742107580
HP:0000482HP:0000482Microcornea0TUBB CL E G H2030682505ORPHA07520778191130
HP:0000482HP:0000482Microcornea0TUBB CL E G H2030682505ORPHA07120778191130
HP:0000482HP:0000482Microcornea0TUBB CL E G H203068156610Michelin-tire baby156610C0473586OMIM07520778191130
HP:0000482HP:0000482Microcornea0TUBB CL E G H203068156610Michelin-tire baby156610C0473586OMIM07120778191130


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 August 2021 release.