Human Phenotype Ontology 
Grandparent Node:
expand
Abnormal anterior eye segment morphology (HP:0004328)help
Parent Node:
expand
Abnormal cornea morphology (HP:0000481)help
..Starting node
..expand
Corneal dystrophy (HP:0001131)help
Term ID: 1131
Name: Corneal dystrophy
Synonym:
Definition: An abnormality of the cornea that is characterized by opacity of one or parts of the cornea.
Comments:
Reference: HP:0001131
Genes and Diseases:
 
       Child Nodes:
........expandLattice corneal dystrophy (HP:0001149) help
........expandBand-shaped corneal dystrophy (HP:0007709) help
........expandGranular corneal dystrophy (HP:0007802) help
........expandPunctate corneal dystrophy (HP:0007809) help
........expandMosaic corneal dystrophy (HP:0007836) help
................... HP:0100690 Mosaic central corneal dystrophy
........expandMarginal corneal dystrophy (HP:0007880) help
........expandSpeckled corneal dystrophy (HP:0007962) help
........expandCongenital corneal dystrophy (HP:0008005) help

 Sister Nodes: 
..expandAbnormal corneal endothelium morphology (HP:0011488) help
..expandAbnormal corneal epithelium morphology (HP:0011495) help
..expandAbnormality of corneal shape (HP:0040004) help
..expandAbnormality of corneal size (HP:0001120) help
..expandAbnormality of corneal stroma (HP:0011492) help
..expandAbnormality of corneal thickness (HP:0011486) help
..expandAbnormality of the corneal limbus (HP:0025348) help
..expandAbnormality of the curvature of the cornea (HP:0100691) help
..expandAbnormality of the line of Schwalbe (HP:0008048) help
..expandCornea verticillata (HP:0500008) help
..expandCorneal degeneration (HP:0007705) help
..expandCorneal neovascularization (HP:0011496) help
..expandCorneal opacity (HP:0007957) help
..expandCorneal perforation (HP:0100583) help
..expandDecreased corneal reflex (HP:0008000) help
..expandDecreased corneal sensation (HP:0012155) help
..expandLimbal dermoid (HP:0001140) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0001131HP:0001131Corneal dystrophy0AGBL1 CL E G H123624615523Corneal dystrophy, Fuchs endothelial, 8615523C3809798OMIM124426504615496
HP:0001131HP:0001131Corneal dystrophy0CHST6 CL E G H4166217800Macular corneal dystrophy Type I217800C1636149OMIM11782516938605294
HP:0001131HP:0001131Corneal dystrophy0COL8A2 CL E G H1296136800Corneal dystrophy, Fuchs endothelial 1136800C1850959OMIM18182216120252
HP:0001131HP:0001131Corneal dystrophy0COL8A2 CL E G H1296609140Corneal dystrophy, posterior polymorphous, 2609140C1852795OMIM18182216120252
HP:0001131HP:0001131Corneal dystrophy0EXOSC2 CL E G H23404617763SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES617763C4540367OMIM125917097602238
HP:0001131HP:0001131Corneal dystrophy0GLA CL E G H2717301500Fabry disease301500C0002986OMIM19667284296300644
HP:0001131HP:0001131Corneal dystrophy0GLA CL E G H2717324Slti Salem syndromeORPHA19667284296300644
HP:0001131HP:0001131Corneal dystrophy0KRT12 CL E G H3859122100Meesman's corneal dystrophy122100C0339277OMIM125356414601687
HP:0001131HP:0001131Corneal dystrophy0KRT3 CL E G H3850122100Meesman's corneal dystrophy122100C0339277OMIM14266440148043
HP:0001131HP:0001131Corneal dystrophy0MBTPS2 CL E G H51360308800Keratosis pilaris decalvans308800C0343057OMIM12620715455300294
HP:0001131HP:0001131Corneal dystrophy0PRDM5 CL E G H1110790354ORPHA1131319349614161
HP:0001131HP:0001131Corneal dystrophy0SLC4A11 CL E G H839591490Congenital ichtyosiform erythrodermaORPHA19525016438610206
HP:0001131HP:0001131Corneal dystrophy0SLC4A11 CL E G H83959217400Corneal dystrophy and perceptive deafness217400C1857572OMIM19525016438610206
HP:0001131HP:0001131Corneal dystrophy0SLC4A11 CL E G H83959613268Corneal dystrophy, Fuchs endothelial, 4613268C2750450OMIM19525016438610206
HP:0001131HP:0001131Corneal dystrophy0TACSTD2 CL E G H4070204870Lattice corneal dystrophy Type III204870C0339273OMIM1337011530137290
HP:0001131HP:0001131Corneal dystrophy0TGFBI CL E G H7045121820Corneal epithelial dystrophy121820C0521723OMIM17011911771601692
HP:0001131HP:0001131Corneal dystrophy0TGFBI CL E G H7045608470Reis-Bucklers' corneal dystrophy608470C0339278OMIM17011911771601692
HP:0001131HP:0001131Corneal dystrophy0TGFBI CL E G H7045602082Thiel-Behnke corneal dystrophy602082C1562894OMIM17011911771601692
HP:0001131HP:0001131Corneal dystrophy0UBIAD1 CL E G H29914121800Schnyder crystalline corneal dystrophy121800C0271287OMIM13014430791611632
HP:0001131HP:0001131Corneal dystrophy0ZEB1 CL E G H6935613270Corneal dystrophy, Fuchs endothelial, 6613270C2750448OMIM1524111642189909
HP:0001131HP:0001131Corneal dystrophy0ZEB1 CL E G H6935609141Posterior polymorphous corneal dystrophy 3609141C1836724OMIM1524111642189909
HP:0001131HP:0001131Corneal dystrophy0ZNF469 CL E G H8462790354ORPHA16964123216612078
HP:0001131HP:0001131Corneal dystrophy1AGBL1 CL E G H123624615523Corneal dystrophy, Fuchs endothelial, 8615523C3809798OMIM124426504615496
HP:0001131HP:0001131Corneal dystrophy1CHST6 CL E G H4166217800Macular corneal dystrophy Type I217800C1636149OMIM11782516938605294
HP:0001131HP:0001131Corneal dystrophy1COL8A2 CL E G H1296136800Corneal dystrophy, Fuchs endothelial 1136800C1850959OMIM18182216120252
HP:0001131HP:0001131Corneal dystrophy1COL8A2 CL E G H1296609140Corneal dystrophy, posterior polymorphous, 2609140C1852795OMIM18182216120252
HP:0001131HP:0001131Corneal dystrophy1EXOSC2 CL E G H23404617763SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES617763C4540367OMIM125917097602238
HP:0001131HP:0001131Corneal dystrophy1GLA CL E G H2717301500Fabry disease301500C0002986OMIM19667284296300644
HP:0001131HP:0001131Corneal dystrophy1GLA CL E G H2717324Slti Salem syndromeORPHA19667284296300644
HP:0001131HP:0001131Corneal dystrophy1KRT12 CL E G H3859122100Meesman's corneal dystrophy122100C0339277OMIM125356414601687
HP:0001131HP:0001131Corneal dystrophy1KRT3 CL E G H3850122100Meesman's corneal dystrophy122100C0339277OMIM14266440148043
HP:0001131HP:0001131Corneal dystrophy1MBTPS2 CL E G H51360308800Keratosis pilaris decalvans308800C0343057OMIM12620715455300294
HP:0001131HP:0001131Corneal dystrophy1PRDM5 CL E G H1110790354ORPHA1131319349614161
HP:0001131HP:0001131Corneal dystrophy1SLC4A11 CL E G H839591490Congenital ichtyosiform erythrodermaORPHA19525016438610206
HP:0001131HP:0001131Corneal dystrophy1SLC4A11 CL E G H83959217400Corneal dystrophy and perceptive deafness217400C1857572OMIM19525016438610206
HP:0001131HP:0001131Corneal dystrophy1SLC4A11 CL E G H83959613268Corneal dystrophy, Fuchs endothelial, 4613268C2750450OMIM19525016438610206
HP:0001131HP:0001131Corneal dystrophy1TACSTD2 CL E G H4070204870Lattice corneal dystrophy Type III204870C0339273OMIM1337011530137290
HP:0001131HP:0001131Corneal dystrophy1TGFBI CL E G H7045121820Corneal epithelial dystrophy121820C0521723OMIM17011911771601692
HP:0001131HP:0001131Corneal dystrophy1TGFBI CL E G H7045608470Reis-Bucklers' corneal dystrophy608470C0339278OMIM17011911771601692
HP:0001131HP:0001131Corneal dystrophy1TGFBI CL E G H7045602082Thiel-Behnke corneal dystrophy602082C1562894OMIM17011911771601692
HP:0001131HP:0001131Corneal dystrophy1UBIAD1 CL E G H29914121800Schnyder crystalline corneal dystrophy121800C0271287OMIM13014430791611632
HP:0001131HP:0001131Corneal dystrophy1ZEB1 CL E G H6935613270Corneal dystrophy, Fuchs endothelial, 6613270C2750448OMIM1524111642189909
HP:0001131HP:0001131Corneal dystrophy1ZEB1 CL E G H6935609141Posterior polymorphous corneal dystrophy 3609141C1836724OMIM1524111642189909
HP:0001131HP:0001131Corneal dystrophy1ZNF469 CL E G H8462790354ORPHA16964123216612078
HP:0001131HP:0001131Corneal dystrophy2AGBL1 CL E G H123624615523Corneal dystrophy, Fuchs endothelial, 8615523C3809798OMIM124426504615496
HP:0001131HP:0001131Corneal dystrophy2CHST6 CL E G H4166217800Macular corneal dystrophy Type I217800C1636149OMIM11782516938605294
HP:0001131HP:0001131Corneal dystrophy2COL8A2 CL E G H1296136800Corneal dystrophy, Fuchs endothelial 1136800C1850959OMIM18182216120252
HP:0001131HP:0001131Corneal dystrophy2COL8A2 CL E G H1296609140Corneal dystrophy, posterior polymorphous, 2609140C1852795OMIM18182216120252
HP:0001131HP:0001131Corneal dystrophy2EXOSC2 CL E G H23404617763SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES617763C4540367OMIM125917097602238
HP:0001131HP:0001131Corneal dystrophy2GLA CL E G H2717301500Fabry disease301500C0002986OMIM19667284296300644
HP:0001131HP:0001131Corneal dystrophy2GLA CL E G H2717324Slti Salem syndromeORPHA19667284296300644
HP:0001131HP:0001131Corneal dystrophy2KRT12 CL E G H3859122100Meesman's corneal dystrophy122100C0339277OMIM125356414601687
HP:0001131HP:0001131Corneal dystrophy2KRT3 CL E G H3850122100Meesman's corneal dystrophy122100C0339277OMIM14266440148043
HP:0001131HP:0001131Corneal dystrophy2MBTPS2 CL E G H51360308800Keratosis pilaris decalvans308800C0343057OMIM12620715455300294
HP:0001131HP:0001131Corneal dystrophy2PRDM5 CL E G H1110790354ORPHA1131319349614161
HP:0001131HP:0001131Corneal dystrophy2SLC4A11 CL E G H839591490Congenital ichtyosiform erythrodermaORPHA19525016438610206
HP:0001131HP:0001131Corneal dystrophy2SLC4A11 CL E G H83959217400Corneal dystrophy and perceptive deafness217400C1857572OMIM19525016438610206
HP:0001131HP:0001131Corneal dystrophy2SLC4A11 CL E G H83959613268Corneal dystrophy, Fuchs endothelial, 4613268C2750450OMIM19525016438610206
HP:0001131HP:0001131Corneal dystrophy2TACSTD2 CL E G H4070204870Lattice corneal dystrophy Type III204870C0339273OMIM1337011530137290
HP:0001131HP:0001131Corneal dystrophy2TGFBI CL E G H7045121820Corneal epithelial dystrophy121820C0521723OMIM17011911771601692
HP:0001131HP:0001131Corneal dystrophy2TGFBI CL E G H7045608470Reis-Bucklers' corneal dystrophy608470C0339278OMIM17011911771601692
HP:0001131HP:0001131Corneal dystrophy2TGFBI CL E G H7045602082Thiel-Behnke corneal dystrophy602082C1562894OMIM17011911771601692
HP:0001131HP:0001131Corneal dystrophy2UBIAD1 CL E G H29914121800Schnyder crystalline corneal dystrophy121800C0271287OMIM13014430791611632
HP:0001131HP:0001131Corneal dystrophy2ZEB1 CL E G H6935613270Corneal dystrophy, Fuchs endothelial, 6613270C2750448OMIM1524111642189909
HP:0001131HP:0001131Corneal dystrophy2ZEB1 CL E G H6935609141Posterior polymorphous corneal dystrophy 3609141C1836724OMIM1524111642189909
HP:0001131HP:0001131Corneal dystrophy2ZNF469 CL E G H8462790354ORPHA16964123216612078
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001131HP:0001131Corneal dystrophy0AGK CL E G H557501369ORPHA02718621869610345
HP:0001131HP:0001131Corneal dystrophy0COL1A1 CL E G H1277287ORPHA096711052197120150
HP:0001131HP:0001131Corneal dystrophy0COL5A1 CL E G H1289287ORPHA015916302209120215
HP:0001131HP:0001131Corneal dystrophy0COL5A2 CL E G H1290287ORPHA0397932210120190
HP:0001131HP:0001131Corneal dystrophy0CRYAA CL E G H14091377ORPHA0271292388123580
HP:0001131HP:0001131Corneal dystrophy0CRYBA4 CL E G H14131377ORPHA010842396123631
HP:0001131HP:0001131Corneal dystrophy0CRYBB1 CL E G H14141377ORPHA020652397600929
HP:0001131HP:0001131Corneal dystrophy0CRYBB2 CL E G H14151377ORPHA027532398123620
HP:0001131HP:0001131Corneal dystrophy0CRYGC CL E G H14201377ORPHA028502410123680
HP:0001131HP:0001131Corneal dystrophy0CRYGD CL E G H14211377ORPHA027732411123690
HP:0001131HP:0001131Corneal dystrophy0GJA8 CL E G H27031377ORPHA0633474281600897
HP:0001131HP:0001131Corneal dystrophy0GNAQ CL E G H27763205LBWD syndromeORPHA06584390600998
HP:0001131HP:0001131Corneal dystrophy0GNPTAB CL E G H79158576ORPHA018846229670607840
HP:0001131HP:0001131Corneal dystrophy0KRT16 CL E G H38682309Fetal parainfluenza virus type 3 syndromeORPHA031596423148067
HP:0001131HP:0001131Corneal dystrophy0KRT17 CL E G H38722309Fetal parainfluenza virus type 3 syndromeORPHA029506427148069
HP:0001131HP:0001131Corneal dystrophy0KRT6A CL E G H38532309Fetal parainfluenza virus type 3 syndromeORPHA047676443148041
HP:0001131HP:0001131Corneal dystrophy0KRT6B CL E G H38542309Fetal parainfluenza virus type 3 syndromeORPHA05306444148042
HP:0001131HP:0001131Corneal dystrophy0MAF CL E G H40941377ORPHA0221726776177075
HP:0001131HP:0001131Corneal dystrophy0OPN1LW CL E G H595616ORPHA0632509936300822
HP:0001131HP:0001131Corneal dystrophy0OPN1MW CL E G H265216ORPHA0212404206300821
HP:0001131HP:0001131Corneal dystrophy0PLOD1 CL E G H53511900ORPHA0424409081153454
HP:0001131HP:0001131Corneal dystrophy0SLC25A4 CL E G H2911369ORPHA01723410990103220
HP:0001131HP:0001131Corneal dystrophy1AGK CL E G H557501369ORPHA02718621869610345
HP:0001131HP:0001131Corneal dystrophy1COL1A1 CL E G H1277287ORPHA096711052197120150
HP:0001131HP:0001131Corneal dystrophy1COL5A1 CL E G H1289287ORPHA015916302209120215
HP:0001131HP:0001131Corneal dystrophy1COL5A2 CL E G H1290287ORPHA0397932210120190
HP:0001131HP:0001131Corneal dystrophy1CRYAA CL E G H14091377ORPHA0271292388123580
HP:0001131HP:0001131Corneal dystrophy1CRYBA4 CL E G H14131377ORPHA010842396123631
HP:0001131HP:0001131Corneal dystrophy1CRYBB1 CL E G H14141377ORPHA020652397600929
HP:0001131HP:0001131Corneal dystrophy1CRYBB2 CL E G H14151377ORPHA027532398123620
HP:0001131HP:0001131Corneal dystrophy1CRYGC CL E G H14201377ORPHA028502410123680
HP:0001131HP:0001131Corneal dystrophy1CRYGD CL E G H14211377ORPHA027732411123690
HP:0001131HP:0001131Corneal dystrophy1GJA8 CL E G H27031377ORPHA0633474281600897
HP:0001131HP:0001131Corneal dystrophy1GNAQ CL E G H27763205LBWD syndromeORPHA06584390600998
HP:0001131HP:0001131Corneal dystrophy1GNPTAB CL E G H79158576ORPHA018846229670607840
HP:0001131HP:0001131Corneal dystrophy1KRT16 CL E G H38682309Fetal parainfluenza virus type 3 syndromeORPHA031596423148067
HP:0001131HP:0001131Corneal dystrophy1KRT17 CL E G H38722309Fetal parainfluenza virus type 3 syndromeORPHA029506427148069
HP:0001131HP:0001131Corneal dystrophy1KRT6A CL E G H38532309Fetal parainfluenza virus type 3 syndromeORPHA047676443148041
HP:0001131HP:0001131Corneal dystrophy1KRT6B CL E G H38542309Fetal parainfluenza virus type 3 syndromeORPHA05306444148042
HP:0001131HP:0001131Corneal dystrophy1MAF CL E G H40941377ORPHA0221726776177075
HP:0001131HP:0001131Corneal dystrophy1OPN1LW CL E G H595616ORPHA0632509936300822
HP:0001131HP:0001131Corneal dystrophy1OPN1MW CL E G H265216ORPHA0212404206300821
HP:0001131HP:0001131Corneal dystrophy1PLOD1 CL E G H53511900ORPHA0424409081153454
HP:0001131HP:0001131Corneal dystrophy1SLC25A4 CL E G H2911369ORPHA01723410990103220
HP:0001131HP:0001131Corneal dystrophy2AGK CL E G H557501369ORPHA02718621869610345
HP:0001131HP:0001131Corneal dystrophy2COL1A1 CL E G H1277287ORPHA096711052197120150
HP:0001131HP:0001131Corneal dystrophy2COL5A1 CL E G H1289287ORPHA015916302209120215
HP:0001131HP:0001131Corneal dystrophy2COL5A2 CL E G H1290287ORPHA0397932210120190
HP:0001131HP:0001131Corneal dystrophy2CRYAA CL E G H14091377ORPHA0271292388123580
HP:0001131HP:0001131Corneal dystrophy2CRYBA4 CL E G H14131377ORPHA010842396123631
HP:0001131HP:0001131Corneal dystrophy2CRYBB1 CL E G H14141377ORPHA020652397600929
HP:0001131HP:0001131Corneal dystrophy2CRYBB2 CL E G H14151377ORPHA027532398123620
HP:0001131HP:0001131Corneal dystrophy2CRYGC CL E G H14201377ORPHA028502410123680
HP:0001131HP:0001131Corneal dystrophy2CRYGD CL E G H14211377ORPHA027732411123690
HP:0001131HP:0001131Corneal dystrophy2GJA8 CL E G H27031377ORPHA0633474281600897
HP:0001131HP:0001131Corneal dystrophy2GNAQ CL E G H27763205LBWD syndromeORPHA06584390600998
HP:0001131HP:0001131Corneal dystrophy2GNPTAB CL E G H79158576ORPHA018846229670607840
HP:0001131HP:0001131Corneal dystrophy2KRT16 CL E G H38682309Fetal parainfluenza virus type 3 syndromeORPHA031596423148067
HP:0001131HP:0001131Corneal dystrophy2KRT17 CL E G H38722309Fetal parainfluenza virus type 3 syndromeORPHA029506427148069
HP:0001131HP:0001131Corneal dystrophy2KRT6A CL E G H38532309Fetal parainfluenza virus type 3 syndromeORPHA047676443148041
HP:0001131HP:0001131Corneal dystrophy2KRT6B CL E G H38542309Fetal parainfluenza virus type 3 syndromeORPHA05306444148042
HP:0001131HP:0001131Corneal dystrophy2MAF CL E G H40941377ORPHA0221726776177075
HP:0001131HP:0001131Corneal dystrophy2OPN1LW CL E G H595616ORPHA0632509936300822
HP:0001131HP:0001131Corneal dystrophy2OPN1MW CL E G H265216ORPHA0212404206300821
HP:0001131HP:0001131Corneal dystrophy2PLOD1 CL E G H53511900ORPHA0424409081153454
HP:0001131HP:0001131Corneal dystrophy2SLC25A4 CL E G H2911369ORPHA01723410990103220


Genes (43) :AGBL1 AGK CHRDL1 CHST6 COL1A1 COL5A1 COL5A2 COL8A2 CRYAA CRYBA4 CRYBB1 CRYBB2 CRYGC CRYGD CYP4V2 DCN EXOSC2 GJA8 GLA GNAQ GNPTAB GSN KRT12 KRT16 KRT17 KRT3 KRT6A KRT6B MAF MBTPS2 OPN1LW OPN1MW OSMR PIKFYVE PLOD1 PRDM5 SLC25A4 SLC4A11 TACSTD2 TGFBI UBIAD1 ZEB1 ZNF469

Diseases (39) :615523 1369 217800 287 136800 609140 1377 617763 301500 324 3205 576 122100 2309 308800 16 1900 90354 1490 217400 613268 204870 121820 608470 602082 121800 613270 609141 309300 210370 610048 105120 105250 121850 217700 607541 121900 608471 122200
 

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