Human Phenotype Ontology 
Grandparent Node:
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Abnormal anterior eye segment morphology (HP:0004328)help
Parent Node:
expand
Abnormal cornea morphology (HP:0000481)help
..Starting node
..expand
Corneal opacity (HP:0007957)help
Term ID: 7957
Name: Corneal opacity
Synonym: Corneal clouding; Corneal opacities; Reduction of corneal clarity; Scarring or clouding of the cornea of the eye
Definition: A reduction of corneal clarity.
Comments:
Reference: HP:0007957
Genes and Diseases:
 
       Child Nodes:
........expandCorneal scarring (HP:0000559) help
........expandSclerocornea (HP:0000647) help
........expandOpacification of the corneal epithelium (HP:0007727) help
................... HP:0008039 Subepithelial corneal opacities
........expandOpacification of the corneal stroma (HP:0007759) help
................... HP:0000531 Corneal crystals
................... HP:0007856 Punctate opacification of the cornea
................... HP:0008011 Peripheral opacification of the cornea
................... HP:0011493 Central opacification of the cornea
................... HP:0011494 Generalized opacification of the cornea
........expandKayser-Fleischer ring (HP:0200032) 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 dystrophy (HP:0001131) help
..expandCorneal neovascularization (HP:0011496) 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:0007957HP:0007957Corneal opacity0ABCA1 CL E G H19425ORPHA124035229600046
HP:0007957HP:0007957Corneal opacity0ALDH18A1 CL E G H5832616603Cutis laxa, autosomal dominant 3616603C4225268OMIM1332529722138250
HP:0007957HP:0007957Corneal opacity0APOA1 CL E G H335425ORPHA17776600107680
HP:0007957HP:0007957Corneal opacity0ATOH7 CL E G H220202221900Persistent hyperplastic primary vitreous, autosomal recessive221900C1857299OMIM194113907609875
HP:0007957HP:0007957Corneal opacity0B3GALNT2 CL E G H148789899ORPHA11622128596610194
HP:0007957HP:0007957Corneal opacity0B3GLCT CL E G H145173709ORPHA11518120207610308
HP:0007957HP:0007957Corneal opacity0B4GAT1 CL E G H11041899ORPHA178415685605517
HP:0007957HP:0007957Corneal opacity0BUB1 CL E G H6991052Mosaic variegated aneuploidy syndromeC1850343ORPHA120851148602452
HP:0007957HP:0007957Corneal opacity0BUB1B CL E G H7011052Mosaic variegated aneuploidy syndromeC1850343ORPHA1293231149602860
HP:0007957HP:0007957Corneal opacity0BUB3 CL E G H91841052Mosaic variegated aneuploidy syndromeC1850343ORPHA16491151603719
HP:0007957HP:0007957Corneal opacity0CEP57 CL E G H97021052Mosaic variegated aneuploidy syndromeC1850343ORPHA1515530794607951
HP:0007957HP:0007957Corneal opacity0COL11A1 CL E G H130190654ORPHA11065602186120280
HP:0007957HP:0007957Corneal opacity0COL4A1 CL E G H1282899ORPHA11144982202120130
HP:0007957HP:0007957Corneal opacity0COL8A2 CL E G H1296609140Corneal dystrophy, posterior polymorphous, 2609140C1852795OMIM18182216120252
HP:0007957HP:0007957Corneal opacity0CTSA CL E G H5476351ORPHA1391199251613111
HP:0007957HP:0007957Corneal opacity0CYP1B1 CL E G H1545617315Anterior segment dysgenesis 6617315C4310623OMIM12432162597601771
HP:0007957HP:0007957Corneal opacity0DAG1 CL E G H1605899ORPHA1113012666128239
HP:0007957HP:0007957Corneal opacity0FGFR1 CL E G H22602396ORPHA12653883688136350
HP:0007957HP:0007957Corneal opacity0FKRP CL E G H79147899ORPHA114140217997606596
HP:0007957HP:0007957Corneal opacity0FKRP CL E G H79147613153Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5613153C3150413OMIM114140217997606596
HP:0007957HP:0007957Corneal opacity0FKRP CL E G H79147236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM114140217997606596
HP:0007957HP:0007957Corneal opacity0FKTN CL E G H2218899ORPHA1594503622607440
HP:0007957HP:0007957Corneal opacity0FKTN CL E G H2218236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM1594503622607440
HP:0007957HP:0007957Corneal opacity0FLNB CL E G H2317150250Larsen syndrome, dominant type150250C1835564OMIM11225203755603381
HP:0007957HP:0007957Corneal opacity0FRAS1 CL E G H80144219000Cryptophthalmos syndrome219000C0265233OMIM16167519185607830
HP:0007957HP:0007957Corneal opacity0FUCA1 CL E G H2517349Neuroaxonal dystrophy renal tubular acidosisORPHA1341094006612280
HP:0007957HP:0007957Corneal opacity0GLA CL E G H2717324Slti Salem syndromeORPHA19667284296300644
HP:0007957HP:0007957Corneal opacity0GUSB CL E G H2990584Al Gazali Donnai Mueller syndromeORPHA1661574696611499
HP:0007957HP:0007957Corneal opacity0GUSB CL E G H2990253220Mucopolysaccharidosis type VII253220C0085132OMIM1661574696611499
HP:0007957HP:0007957Corneal opacity0IDUA CL E G H342593476ORPHA12916225391252800
HP:0007957HP:0007957Corneal opacity0IDUA CL E G H342593474ORPHA12916225391252800
HP:0007957HP:0007957Corneal opacity0IDUA CL E G H342593473ORPHA12916225391252800
HP:0007957HP:0007957Corneal opacity0IDUA CL E G H3425607015Mucopolysaccharidosis, MPS-I-H/S607015C0086431OMIM12916225391252800
HP:0007957HP:0007957Corneal opacity0IDUA CL E G H3425607016Mucopolysaccharidosis, MPS-I-S607016C0026708OMIM12916225391252800
HP:0007957HP:0007957Corneal opacity0IKBKG CL E G H8517464Achromatopsia incomplete X-linkedCN036572ORPHA11512955961300248
HP:0007957HP:0007957Corneal opacity0ISPD CL E G H729920899ORPHA147537276614631
HP:0007957HP:0007957Corneal opacity0KIF11 CL E G H3832152950Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation152950C1835265OMIM1701726388148760
HP:0007957HP:0007957Corneal opacity0KRAS CL E G H38452396ORPHA1452746407190070
HP:0007957HP:0007957Corneal opacity0LARGE1 CL E G H9215899ORPHA1284066511603590
HP:0007957HP:0007957Corneal opacity0LARGE1 CL E G H9215236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM1284066511603590
HP:0007957HP:0007957Corneal opacity0LCAT CL E G H393179292ORPHA1109786522606967
HP:0007957HP:0007957Corneal opacity0LRP5 CL E G H40412788ORPHA12214116697603506
HP:0007957HP:0007957Corneal opacity0LTBP2 CL E G H4053613086Glaucoma 3, primary congenital, d613086C2751316OMIM1292996715602091
HP:0007957HP:0007957Corneal opacity0MCOLN1 CL E G H57192578Akesson syndromeORPHA13622813356605248
HP:0007957HP:0007957Corneal opacity0MMP14 CL E G H4323277950Winchester syndrome277950C0432289OMIM110377160600754
HP:0007957HP:0007957Corneal opacity0NEU1 CL E G H4758812ORPHA1641027758608272
HP:0007957HP:0007957Corneal opacity0PAX6 CL E G H5080120200Congenital ocular coloboma120200C0009363OMIM15714968620607108
HP:0007957HP:0007957Corneal opacity0PAX6 CL E G H5080604229Irido-corneo-trabecular dysgenesis604229C0344559OMIM15714968620607108
HP:0007957HP:0007957Corneal opacity0PDGFB CL E G H51551980ORPHA123448800190040
HP:0007957HP:0007957Corneal opacity0PDGFRB CL E G H51591980ORPHA1241508804173410
HP:0007957HP:0007957Corneal opacity0PEX1 CL E G H5189912ORPHA11404898850602136
HP:0007957HP:0007957Corneal opacity0PEX10 CL E G H5192912ORPHA1323478851602859
HP:0007957HP:0007957Corneal opacity0PEX11B CL E G H8799912ORPHA182478853603867
HP:0007957HP:0007957Corneal opacity0PEX12 CL E G H5193912ORPHA1371818854601758
HP:0007957HP:0007957Corneal opacity0PEX13 CL E G H5194912ORPHA1101968855601789
HP:0007957HP:0007957Corneal opacity0PEX14 CL E G H5195912ORPHA151768856601791
HP:0007957HP:0007957Corneal opacity0PEX16 CL E G H9409912ORPHA1151498857603360
HP:0007957HP:0007957Corneal opacity0PEX19 CL E G H5824912ORPHA141339713600279
HP:0007957HP:0007957Corneal opacity0PEX2 CL E G H5828912ORPHA1182089717170993
HP:0007957HP:0007957Corneal opacity0PEX26 CL E G H55670912ORPHA12727722965608666
HP:0007957HP:0007957Corneal opacity0PEX3 CL E G H8504912ORPHA1101168858603164
HP:0007957HP:0007957Corneal opacity0PEX5 CL E G H5830912ORPHA1142809719600414
HP:0007957HP:0007957Corneal opacity0PEX6 CL E G H5190912ORPHA11093758859601498
HP:0007957HP:0007957Corneal opacity0PIGL CL E G H94873474Meningoencephalocele-arthrogryposis-hypoplastic thumbORPHA111988966605947
HP:0007957HP:0007957Corneal opacity0PIGN CL E G H235562059ORPHA1344168967606097
HP:0007957HP:0007957Corneal opacity0PLXND1 CL E G H23129570ORPHA181049107604282
HP:0007957HP:0007957Corneal opacity0POMGNT1 CL E G H55624899ORPHA18946119139606822
HP:0007957HP:0007957Corneal opacity0POMGNT2 CL E G H84892899ORPHA1919125902614828
HP:0007957HP:0007957Corneal opacity0POMK CL E G H84197899ORPHA1814826267615247
HP:0007957HP:0007957Corneal opacity0POMT1 CL E G H10585899ORPHA1965089202607423
HP:0007957HP:0007957Corneal opacity0POMT1 CL E G H10585236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM1965089202607423
HP:0007957HP:0007957Corneal opacity0POMT2 CL E G H29954899ORPHA17550219743607439
HP:0007957HP:0007957Corneal opacity0POMT2 CL E G H29954236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM17550219743607439
HP:0007957HP:0007957Corneal opacity0PORCN CL E G H648402092EhrlichiosisORPHA112121017652300651
HP:0007957HP:0007957Corneal opacity0REV3L CL E G H5980570ORPHA191249968602776
HP:0007957HP:0007957Corneal opacity0RIPK4 CL E G H541011234Chang Davidson Carlson syndromeORPHA116222496605706
HP:0007957HP:0007957Corneal opacity0RXYLT1 CL E G H10329899ORPHA1810613530605862
HP:0007957HP:0007957Corneal opacity0SLC20A2 CL E G H65751980ORPHA18918210947158378
HP:0007957HP:0007957Corneal opacity0SLC4A11 CL E G H839591490Congenital ichtyosiform erythrodermaORPHA19525016438610206
HP:0007957HP:0007957Corneal opacity0STS CL E G H412281090ORPHA17240611425300747
HP:0007957HP:0007957Corneal opacity0SUMF1 CL E G H285362585ORPHA15526520376607939
HP:0007957HP:0007957Corneal opacity0SUMF1 CL E G H285362272200Multiple sulfatase deficiency272200C0268263OMIM15526520376607939
HP:0007957HP:0007957Corneal opacity0TAT CL E G H689828378ORPHA13614011573613018
HP:0007957HP:0007957Corneal opacity0TRIP13 CL E G H93191052Mosaic variegated aneuploidy syndromeC1850343ORPHA1216212307604507
HP:0007957HP:0007957Corneal opacity0TWIST2 CL E G H117581920Bone dysplasia Azouz typeORPHA198820670607556
HP:0007957HP:0007957Corneal opacity0XPR1 CL E G H92131980ORPHA1105712827605237
HP:0007957HP:0007957Corneal opacity1ABCA1 CL E G H19425ORPHA124035229600046
HP:0007957HP:0007957Corneal opacity1ALDH18A1 CL E G H5832616603Cutis laxa, autosomal dominant 3616603C4225268OMIM1332529722138250
HP:0007957HP:0007957Corneal opacity1APOA1 CL E G H335425ORPHA17776600107680
HP:0007957HP:0007957Corneal opacity1ATOH7 CL E G H220202221900Persistent hyperplastic primary vitreous, autosomal recessive221900C1857299OMIM194113907609875
HP:0007957HP:0007957Corneal opacity1B3GALNT2 CL E G H148789899ORPHA11622128596610194
HP:0007957HP:0007957Corneal opacity1B3GLCT CL E G H145173709ORPHA11518120207610308
HP:0007957HP:0007957Corneal opacity1B4GAT1 CL E G H11041899ORPHA178415685605517
HP:0007957HP:0007957Corneal opacity1BUB1 CL E G H6991052Mosaic variegated aneuploidy syndromeC1850343ORPHA120851148602452
HP:0007957HP:0007957Corneal opacity1BUB1B CL E G H7011052Mosaic variegated aneuploidy syndromeC1850343ORPHA1293231149602860
HP:0007957HP:0007957Corneal opacity1BUB3 CL E G H91841052Mosaic variegated aneuploidy syndromeC1850343ORPHA16491151603719
HP:0007957HP:0007957Corneal opacity1CEP57 CL E G H97021052Mosaic variegated aneuploidy syndromeC1850343ORPHA1515530794607951
HP:0007957HP:0007957Corneal opacity1COL11A1 CL E G H130190654ORPHA11065602186120280
HP:0007957HP:0007957Corneal opacity1COL4A1 CL E G H1282899ORPHA11144982202120130
HP:0007957HP:0007957Corneal opacity1COL8A2 CL E G H1296609140Corneal dystrophy, posterior polymorphous, 2609140C1852795OMIM18182216120252
HP:0007957HP:0007957Corneal opacity1CTSA CL E G H5476351ORPHA1391199251613111
HP:0007957HP:0007957Corneal opacity1CYP1B1 CL E G H1545617315Anterior segment dysgenesis 6617315C4310623OMIM12432162597601771
HP:0007957HP:0007957Corneal opacity1DAG1 CL E G H1605899ORPHA1113012666128239
HP:0007957HP:0007957Corneal opacity1FGFR1 CL E G H22602396ORPHA12653883688136350
HP:0007957HP:0007957Corneal opacity1FKRP CL E G H79147899ORPHA114140217997606596
HP:0007957HP:0007957Corneal opacity1FKRP CL E G H79147613153Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5613153C3150413OMIM114140217997606596
HP:0007957HP:0007957Corneal opacity1FKRP CL E G H79147236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM114140217997606596
HP:0007957HP:0007957Corneal opacity1FKTN CL E G H2218899ORPHA1594503622607440
HP:0007957HP:0007957Corneal opacity1FKTN CL E G H2218236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM1594503622607440
HP:0007957HP:0007957Corneal opacity1FLNB CL E G H2317150250Larsen syndrome, dominant type150250C1835564OMIM11225203755603381
HP:0007957HP:0007957Corneal opacity1FRAS1 CL E G H80144219000Cryptophthalmos syndrome219000C0265233OMIM16167519185607830
HP:0007957HP:0007957Corneal opacity1FUCA1 CL E G H2517349Neuroaxonal dystrophy renal tubular acidosisORPHA1341094006612280
HP:0007957HP:0007957Corneal opacity1GLA CL E G H2717324Slti Salem syndromeORPHA19667284296300644
HP:0007957HP:0007957Corneal opacity1GUSB CL E G H2990584Al Gazali Donnai Mueller syndromeORPHA1661574696611499
HP:0007957HP:0007957Corneal opacity1GUSB CL E G H2990253220Mucopolysaccharidosis type VII253220C0085132OMIM1661574696611499
HP:0007957HP:0007957Corneal opacity1IDUA CL E G H342593476ORPHA12916225391252800
HP:0007957HP:0007957Corneal opacity1IDUA CL E G H342593474ORPHA12916225391252800
HP:0007957HP:0007957Corneal opacity1IDUA CL E G H342593473ORPHA12916225391252800
HP:0007957HP:0007957Corneal opacity1IDUA CL E G H3425607015Mucopolysaccharidosis, MPS-I-H/S607015C0086431OMIM12916225391252800
HP:0007957HP:0007957Corneal opacity1IDUA CL E G H3425607016Mucopolysaccharidosis, MPS-I-S607016C0026708OMIM12916225391252800
HP:0007957HP:0007957Corneal opacity1IKBKG CL E G H8517464Achromatopsia incomplete X-linkedCN036572ORPHA11512955961300248
HP:0007957HP:0007957Corneal opacity1ISPD CL E G H729920899ORPHA147537276614631
HP:0007957HP:0007957Corneal opacity1KIF11 CL E G H3832152950Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation152950C1835265OMIM1701726388148760
HP:0007957HP:0007957Corneal opacity1KRAS CL E G H38452396ORPHA1452746407190070
HP:0007957HP:0007957Corneal opacity1LARGE1 CL E G H9215899ORPHA1284066511603590
HP:0007957HP:0007957Corneal opacity1LARGE1 CL E G H9215236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM1284066511603590
HP:0007957HP:0007957Corneal opacity1LCAT CL E G H393179292ORPHA1109786522606967
HP:0007957HP:0007957Corneal opacity1LRP5 CL E G H40412788ORPHA12214116697603506
HP:0007957HP:0007957Corneal opacity1LTBP2 CL E G H4053613086Glaucoma 3, primary congenital, d613086C2751316OMIM1292996715602091
HP:0007957HP:0007957Corneal opacity1MCOLN1 CL E G H57192578Akesson syndromeORPHA13622813356605248
HP:0007957HP:0007957Corneal opacity1MMP14 CL E G H4323277950Winchester syndrome277950C0432289OMIM110377160600754
HP:0007957HP:0007957Corneal opacity1NEU1 CL E G H4758812ORPHA1641027758608272
HP:0007957HP:0007957Corneal opacity1PAX6 CL E G H5080120200Congenital ocular coloboma120200C0009363OMIM15714968620607108
HP:0007957HP:0007957Corneal opacity1PAX6 CL E G H5080604229Irido-corneo-trabecular dysgenesis604229C0344559OMIM15714968620607108
HP:0007957HP:0007957Corneal opacity1PDGFB CL E G H51551980ORPHA123448800190040
HP:0007957HP:0007957Corneal opacity1PDGFRB CL E G H51591980ORPHA1241508804173410
HP:0007957HP:0007957Corneal opacity1PEX1 CL E G H5189912ORPHA11404898850602136
HP:0007957HP:0007957Corneal opacity1PEX10 CL E G H5192912ORPHA1323478851602859
HP:0007957HP:0007957Corneal opacity1PEX11B CL E G H8799912ORPHA182478853603867
HP:0007957HP:0007957Corneal opacity1PEX12 CL E G H5193912ORPHA1371818854601758
HP:0007957HP:0007957Corneal opacity1PEX13 CL E G H5194912ORPHA1101968855601789
HP:0007957HP:0007957Corneal opacity1PEX14 CL E G H5195912ORPHA151768856601791
HP:0007957HP:0007957Corneal opacity1PEX16 CL E G H9409912ORPHA1151498857603360
HP:0007957HP:0007957Corneal opacity1PEX19 CL E G H5824912ORPHA141339713600279
HP:0007957HP:0007957Corneal opacity1PEX2 CL E G H5828912ORPHA1182089717170993
HP:0007957HP:0007957Corneal opacity1PEX26 CL E G H55670912ORPHA12727722965608666
HP:0007957HP:0007957Corneal opacity1PEX3 CL E G H8504912ORPHA1101168858603164
HP:0007957HP:0007957Corneal opacity1PEX5 CL E G H5830912ORPHA1142809719600414
HP:0007957HP:0007957Corneal opacity1PEX6 CL E G H5190912ORPHA11093758859601498
HP:0007957HP:0007957Corneal opacity1PIGL CL E G H94873474Meningoencephalocele-arthrogryposis-hypoplastic thumbORPHA111988966605947
HP:0007957HP:0007957Corneal opacity1PIGN CL E G H235562059ORPHA1344168967606097
HP:0007957HP:0007957Corneal opacity1PLXND1 CL E G H23129570ORPHA181049107604282
HP:0007957HP:0007957Corneal opacity1POMGNT1 CL E G H55624899ORPHA18946119139606822
HP:0007957HP:0007957Corneal opacity1POMGNT2 CL E G H84892899ORPHA1919125902614828
HP:0007957HP:0007957Corneal opacity1POMK CL E G H84197899ORPHA1814826267615247
HP:0007957HP:0007957Corneal opacity1POMT1 CL E G H10585899ORPHA1965089202607423
HP:0007957HP:0007957Corneal opacity1POMT1 CL E G H10585236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM1965089202607423
HP:0007957HP:0007957Corneal opacity1POMT2 CL E G H29954899ORPHA17550219743607439
HP:0007957HP:0007957Corneal opacity1POMT2 CL E G H29954236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM17550219743607439
HP:0007957HP:0007957Corneal opacity1PORCN CL E G H648402092EhrlichiosisORPHA112121017652300651
HP:0007957HP:0007957Corneal opacity1REV3L CL E G H5980570ORPHA191249968602776
HP:0007957HP:0007957Corneal opacity1RIPK4 CL E G H541011234Chang Davidson Carlson syndromeORPHA116222496605706
HP:0007957HP:0007957Corneal opacity1RXYLT1 CL E G H10329899ORPHA1810613530605862
HP:0007957HP:0007957Corneal opacity1SLC20A2 CL E G H65751980ORPHA18918210947158378
HP:0007957HP:0007957Corneal opacity1SLC4A11 CL E G H839591490Congenital ichtyosiform erythrodermaORPHA19525016438610206
HP:0007957HP:0007957Corneal opacity1STS CL E G H412281090ORPHA17240611425300747
HP:0007957HP:0007957Corneal opacity1SUMF1 CL E G H285362585ORPHA15526520376607939
HP:0007957HP:0007957Corneal opacity1SUMF1 CL E G H285362272200Multiple sulfatase deficiency272200C0268263OMIM15526520376607939
HP:0007957HP:0007957Corneal opacity1TAT CL E G H689828378ORPHA13614011573613018
HP:0007957HP:0007957Corneal opacity1TRIP13 CL E G H93191052Mosaic variegated aneuploidy syndromeC1850343ORPHA1216212307604507
HP:0007957HP:0007957Corneal opacity1TWIST2 CL E G H117581920Bone dysplasia Azouz typeORPHA198820670607556
HP:0007957HP:0007957Corneal opacity1XPR1 CL E G H92131980ORPHA1105712827605237
HP:0007957HP:0007957Corneal opacity2ABCA1 CL E G H19425ORPHA124035229600046
HP:0007957HP:0007957Corneal opacity2ALDH18A1 CL E G H5832616603Cutis laxa, autosomal dominant 3616603C4225268OMIM1332529722138250
HP:0007957HP:0007957Corneal opacity2APOA1 CL E G H335425ORPHA17776600107680
HP:0007957HP:0007957Corneal opacity2ATOH7 CL E G H220202221900Persistent hyperplastic primary vitreous, autosomal recessive221900C1857299OMIM194113907609875
HP:0007957HP:0007957Corneal opacity2B3GALNT2 CL E G H148789899ORPHA11622128596610194
HP:0007957HP:0007957Corneal opacity2B3GLCT CL E G H145173709ORPHA11518120207610308
HP:0007957HP:0007957Corneal opacity2B4GAT1 CL E G H11041899ORPHA178415685605517
HP:0007957HP:0007957Corneal opacity2BUB1 CL E G H6991052Mosaic variegated aneuploidy syndromeC1850343ORPHA120851148602452
HP:0007957HP:0007957Corneal opacity2BUB1B CL E G H7011052Mosaic variegated aneuploidy syndromeC1850343ORPHA1293231149602860
HP:0007957HP:0007957Corneal opacity2BUB3 CL E G H91841052Mosaic variegated aneuploidy syndromeC1850343ORPHA16491151603719
HP:0007957HP:0007957Corneal opacity2CEP57 CL E G H97021052Mosaic variegated aneuploidy syndromeC1850343ORPHA1515530794607951
HP:0007957HP:0007957Corneal opacity2COL11A1 CL E G H130190654ORPHA11065602186120280
HP:0007957HP:0007957Corneal opacity2COL4A1 CL E G H1282899ORPHA11144982202120130
HP:0007957HP:0007957Corneal opacity2COL8A2 CL E G H1296609140Corneal dystrophy, posterior polymorphous, 2609140C1852795OMIM18182216120252
HP:0007957HP:0007957Corneal opacity2CTSA CL E G H5476351ORPHA1391199251613111
HP:0007957HP:0007957Corneal opacity2CYP1B1 CL E G H1545617315Anterior segment dysgenesis 6617315C4310623OMIM12432162597601771
HP:0007957HP:0007957Corneal opacity2DAG1 CL E G H1605899ORPHA1113012666128239
HP:0007957HP:0007957Corneal opacity2FGFR1 CL E G H22602396ORPHA12653883688136350
HP:0007957HP:0007957Corneal opacity2FKRP CL E G H79147899ORPHA114140217997606596
HP:0007957HP:0007957Corneal opacity2FKRP CL E G H79147613153Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5613153C3150413OMIM114140217997606596
HP:0007957HP:0007957Corneal opacity2FKRP CL E G H79147236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM114140217997606596
HP:0007957HP:0007957Corneal opacity2FKTN CL E G H2218899ORPHA1594503622607440
HP:0007957HP:0007957Corneal opacity2FKTN CL E G H2218236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM1594503622607440
HP:0007957HP:0007957Corneal opacity2FLNB CL E G H2317150250Larsen syndrome, dominant type150250C1835564OMIM11225203755603381
HP:0007957HP:0007957Corneal opacity2FRAS1 CL E G H80144219000Cryptophthalmos syndrome219000C0265233OMIM16167519185607830
HP:0007957HP:0007957Corneal opacity2FUCA1 CL E G H2517349Neuroaxonal dystrophy renal tubular acidosisORPHA1341094006612280
HP:0007957HP:0007957Corneal opacity2GLA CL E G H2717324Slti Salem syndromeORPHA19667284296300644
HP:0007957HP:0007957Corneal opacity2GUSB CL E G H2990584Al Gazali Donnai Mueller syndromeORPHA1661574696611499
HP:0007957HP:0007957Corneal opacity2GUSB CL E G H2990253220Mucopolysaccharidosis type VII253220C0085132OMIM1661574696611499
HP:0007957HP:0007957Corneal opacity2IDUA CL E G H342593476ORPHA12916225391252800
HP:0007957HP:0007957Corneal opacity2IDUA CL E G H342593474ORPHA12916225391252800
HP:0007957HP:0007957Corneal opacity2IDUA CL E G H342593473ORPHA12916225391252800
HP:0007957HP:0007957Corneal opacity2IDUA CL E G H3425607015Mucopolysaccharidosis, MPS-I-H/S607015C0086431OMIM12916225391252800
HP:0007957HP:0007957Corneal opacity2IDUA CL E G H3425607016Mucopolysaccharidosis, MPS-I-S607016C0026708OMIM12916225391252800
HP:0007957HP:0007957Corneal opacity2IKBKG CL E G H8517464Achromatopsia incomplete X-linkedCN036572ORPHA11512955961300248
HP:0007957HP:0007957Corneal opacity2ISPD CL E G H729920899ORPHA147537276614631
HP:0007957HP:0007957Corneal opacity2KIF11 CL E G H3832152950Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation152950C1835265OMIM1701726388148760
HP:0007957HP:0007957Corneal opacity2KRAS CL E G H38452396ORPHA1452746407190070
HP:0007957HP:0007957Corneal opacity2LARGE1 CL E G H9215899ORPHA1284066511603590
HP:0007957HP:0007957Corneal opacity2LARGE1 CL E G H9215236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM1284066511603590
HP:0007957HP:0007957Corneal opacity2LCAT CL E G H393179292ORPHA1109786522606967
HP:0007957HP:0007957Corneal opacity2LRP5 CL E G H40412788ORPHA12214116697603506
HP:0007957HP:0007957Corneal opacity2LTBP2 CL E G H4053613086Glaucoma 3, primary congenital, d613086C2751316OMIM1292996715602091
HP:0007957HP:0007957Corneal opacity2MCOLN1 CL E G H57192578Akesson syndromeORPHA13622813356605248
HP:0007957HP:0007957Corneal opacity2MMP14 CL E G H4323277950Winchester syndrome277950C0432289OMIM110377160600754
HP:0007957HP:0007957Corneal opacity2NEU1 CL E G H4758812ORPHA1641027758608272
HP:0007957HP:0007957Corneal opacity2PAX6 CL E G H5080120200Congenital ocular coloboma120200C0009363OMIM15714968620607108
HP:0007957HP:0007957Corneal opacity2PAX6 CL E G H5080604229Irido-corneo-trabecular dysgenesis604229C0344559OMIM15714968620607108
HP:0007957HP:0007957Corneal opacity2PDGFB CL E G H51551980ORPHA123448800190040
HP:0007957HP:0007957Corneal opacity2PDGFRB CL E G H51591980ORPHA1241508804173410
HP:0007957HP:0007957Corneal opacity2PEX1 CL E G H5189912ORPHA11404898850602136
HP:0007957HP:0007957Corneal opacity2PEX10 CL E G H5192912ORPHA1323478851602859
HP:0007957HP:0007957Corneal opacity2PEX11B CL E G H8799912ORPHA182478853603867
HP:0007957HP:0007957Corneal opacity2PEX12 CL E G H5193912ORPHA1371818854601758
HP:0007957HP:0007957Corneal opacity2PEX13 CL E G H5194912ORPHA1101968855601789
HP:0007957HP:0007957Corneal opacity2PEX14 CL E G H5195912ORPHA151768856601791
HP:0007957HP:0007957Corneal opacity2PEX16 CL E G H9409912ORPHA1151498857603360
HP:0007957HP:0007957Corneal opacity2PEX19 CL E G H5824912ORPHA141339713600279
HP:0007957HP:0007957Corneal opacity2PEX2 CL E G H5828912ORPHA1182089717170993
HP:0007957HP:0007957Corneal opacity2PEX26 CL E G H55670912ORPHA12727722965608666
HP:0007957HP:0007957Corneal opacity2PEX3 CL E G H8504912ORPHA1101168858603164
HP:0007957HP:0007957Corneal opacity2PEX5 CL E G H5830912ORPHA1142809719600414
HP:0007957HP:0007957Corneal opacity2PEX6 CL E G H5190912ORPHA11093758859601498
HP:0007957HP:0007957Corneal opacity2PIGL CL E G H94873474Meningoencephalocele-arthrogryposis-hypoplastic thumbORPHA111988966605947
HP:0007957HP:0007957Corneal opacity2PIGN CL E G H235562059ORPHA1344168967606097
HP:0007957HP:0007957Corneal opacity2PLXND1 CL E G H23129570ORPHA181049107604282
HP:0007957HP:0007957Corneal opacity2POMGNT1 CL E G H55624899ORPHA18946119139606822
HP:0007957HP:0007957Corneal opacity2POMGNT2 CL E G H84892899ORPHA1919125902614828
HP:0007957HP:0007957Corneal opacity2POMK CL E G H84197899ORPHA1814826267615247
HP:0007957HP:0007957Corneal opacity2POMT1 CL E G H10585899ORPHA1965089202607423
HP:0007957HP:0007957Corneal opacity2POMT1 CL E G H10585236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM1965089202607423
HP:0007957HP:0007957Corneal opacity2POMT2 CL E G H29954899ORPHA17550219743607439
HP:0007957HP:0007957Corneal opacity2POMT2 CL E G H29954236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM17550219743607439
HP:0007957HP:0007957Corneal opacity2PORCN CL E G H648402092EhrlichiosisORPHA112121017652300651
HP:0007957HP:0007957Corneal opacity2REV3L CL E G H5980570ORPHA191249968602776
HP:0007957HP:0007957Corneal opacity2RIPK4 CL E G H541011234Chang Davidson Carlson syndromeORPHA116222496605706
HP:0007957HP:0007957Corneal opacity2RXYLT1 CL E G H10329899ORPHA1810613530605862
HP:0007957HP:0007957Corneal opacity2SLC20A2 CL E G H65751980ORPHA18918210947158378
HP:0007957HP:0007957Corneal opacity2SLC4A11 CL E G H839591490Congenital ichtyosiform erythrodermaORPHA19525016438610206
HP:0007957HP:0007957Corneal opacity2STS CL E G H412281090ORPHA17240611425300747
HP:0007957HP:0007957Corneal opacity2SUMF1 CL E G H285362585ORPHA15526520376607939
HP:0007957HP:0007957Corneal opacity2SUMF1 CL E G H285362272200Multiple sulfatase deficiency272200C0268263OMIM15526520376607939
HP:0007957HP:0007957Corneal opacity2TAT CL E G H689828378ORPHA13614011573613018
HP:0007957HP:0007957Corneal opacity2TRIP13 CL E G H93191052Mosaic variegated aneuploidy syndromeC1850343ORPHA1216212307604507
HP:0007957HP:0007957Corneal opacity2TWIST2 CL E G H117581920Bone dysplasia Azouz typeORPHA198820670607556
HP:0007957HP:0007957Corneal opacity2XPR1 CL E G H92131980ORPHA1105712827605237
HP:0007957HP:0007957Corneal opacity3ABCA1 CL E G H19425ORPHA124035229600046
HP:0007957HP:0007957Corneal opacity3ALDH18A1 CL E G H5832616603Cutis laxa, autosomal dominant 3616603C4225268OMIM1332529722138250
HP:0007957HP:0007957Corneal opacity3APOA1 CL E G H335425ORPHA17776600107680
HP:0007957HP:0007957Corneal opacity3ATOH7 CL E G H220202221900Persistent hyperplastic primary vitreous, autosomal recessive221900C1857299OMIM194113907609875
HP:0007957HP:0007957Corneal opacity3B3GALNT2 CL E G H148789899ORPHA11622128596610194
HP:0007957HP:0007957Corneal opacity3B3GLCT CL E G H145173709ORPHA11518120207610308
HP:0007957HP:0007957Corneal opacity3B4GAT1 CL E G H11041899ORPHA178415685605517
HP:0007957HP:0007957Corneal opacity3BUB1 CL E G H6991052Mosaic variegated aneuploidy syndromeC1850343ORPHA120851148602452
HP:0007957HP:0007957Corneal opacity3BUB1B CL E G H7011052Mosaic variegated aneuploidy syndromeC1850343ORPHA1293231149602860
HP:0007957HP:0007957Corneal opacity3BUB3 CL E G H91841052Mosaic variegated aneuploidy syndromeC1850343ORPHA16491151603719
HP:0007957HP:0007957Corneal opacity3CEP57 CL E G H97021052Mosaic variegated aneuploidy syndromeC1850343ORPHA1515530794607951
HP:0007957HP:0007957Corneal opacity3COL11A1 CL E G H130190654ORPHA11065602186120280
HP:0007957HP:0007957Corneal opacity3COL4A1 CL E G H1282899ORPHA11144982202120130
HP:0007957HP:0007957Corneal opacity3COL8A2 CL E G H1296609140Corneal dystrophy, posterior polymorphous, 2609140C1852795OMIM18182216120252
HP:0007957HP:0007957Corneal opacity3CTSA CL E G H5476351ORPHA1391199251613111
HP:0007957HP:0007957Corneal opacity3CYP1B1 CL E G H1545617315Anterior segment dysgenesis 6617315C4310623OMIM12432162597601771
HP:0007957HP:0007957Corneal opacity3DAG1 CL E G H1605899ORPHA1113012666128239
HP:0007957HP:0007957Corneal opacity3FGFR1 CL E G H22602396ORPHA12653883688136350
HP:0007957HP:0007957Corneal opacity3FKRP CL E G H79147899ORPHA114140217997606596
HP:0007957HP:0007957Corneal opacity3FKRP CL E G H79147613153Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5613153C3150413OMIM114140217997606596
HP:0007957HP:0007957Corneal opacity3FKRP CL E G H79147236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM114140217997606596
HP:0007957HP:0007957Corneal opacity3FKTN CL E G H2218899ORPHA1594503622607440
HP:0007957HP:0007957Corneal opacity3FKTN CL E G H2218236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM1594503622607440
HP:0007957HP:0007957Corneal opacity3FLNB CL E G H2317150250Larsen syndrome, dominant type150250C1835564OMIM11225203755603381
HP:0007957HP:0007957Corneal opacity3FRAS1 CL E G H80144219000Cryptophthalmos syndrome219000C0265233OMIM16167519185607830
HP:0007957HP:0007957Corneal opacity3FUCA1 CL E G H2517349Neuroaxonal dystrophy renal tubular acidosisORPHA1341094006612280
HP:0007957HP:0007957Corneal opacity3GLA CL E G H2717324Slti Salem syndromeORPHA19667284296300644
HP:0007957HP:0007957Corneal opacity3GUSB CL E G H2990584Al Gazali Donnai Mueller syndromeORPHA1661574696611499
HP:0007957HP:0007957Corneal opacity3GUSB CL E G H2990253220Mucopolysaccharidosis type VII253220C0085132OMIM1661574696611499
HP:0007957HP:0007957Corneal opacity3IDUA CL E G H342593476ORPHA12916225391252800
HP:0007957HP:0007957Corneal opacity3IDUA CL E G H342593474ORPHA12916225391252800
HP:0007957HP:0007957Corneal opacity3IDUA CL E G H342593473ORPHA12916225391252800
HP:0007957HP:0007957Corneal opacity3IDUA CL E G H3425607015Mucopolysaccharidosis, MPS-I-H/S607015C0086431OMIM12916225391252800
HP:0007957HP:0007957Corneal opacity3IDUA CL E G H3425607016Mucopolysaccharidosis, MPS-I-S607016C0026708OMIM12916225391252800
HP:0007957HP:0007957Corneal opacity3IKBKG CL E G H8517464Achromatopsia incomplete X-linkedCN036572ORPHA11512955961300248
HP:0007957HP:0007957Corneal opacity3ISPD CL E G H729920899ORPHA147537276614631
HP:0007957HP:0007957Corneal opacity3KIF11 CL E G H3832152950Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation152950C1835265OMIM1701726388148760
HP:0007957HP:0007957Corneal opacity3KRAS CL E G H38452396ORPHA1452746407190070
HP:0007957HP:0007957Corneal opacity3LARGE1 CL E G H9215899ORPHA1284066511603590
HP:0007957HP:0007957Corneal opacity3LARGE1 CL E G H9215236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM1284066511603590
HP:0007957HP:0007957Corneal opacity3LCAT CL E G H393179292ORPHA1109786522606967
HP:0007957HP:0007957Corneal opacity3LRP5 CL E G H40412788ORPHA12214116697603506
HP:0007957HP:0007957Corneal opacity3LTBP2 CL E G H4053613086Glaucoma 3, primary congenital, d613086C2751316OMIM1292996715602091
HP:0007957HP:0007957Corneal opacity3MCOLN1 CL E G H57192578Akesson syndromeORPHA13622813356605248
HP:0007957HP:0007957Corneal opacity3MMP14 CL E G H4323277950Winchester syndrome277950C0432289OMIM110377160600754
HP:0007957HP:0007957Corneal opacity3NEU1 CL E G H4758812ORPHA1641027758608272
HP:0007957HP:0007957Corneal opacity3PAX6 CL E G H5080120200Congenital ocular coloboma120200C0009363OMIM15714968620607108
HP:0007957HP:0007957Corneal opacity3PAX6 CL E G H5080604229Irido-corneo-trabecular dysgenesis604229C0344559OMIM15714968620607108
HP:0007957HP:0007957Corneal opacity3PDGFB CL E G H51551980ORPHA123448800190040
HP:0007957HP:0007957Corneal opacity3PDGFRB CL E G H51591980ORPHA1241508804173410
HP:0007957HP:0007957Corneal opacity3PEX1 CL E G H5189912ORPHA11404898850602136
HP:0007957HP:0007957Corneal opacity3PEX10 CL E G H5192912ORPHA1323478851602859
HP:0007957HP:0007957Corneal opacity3PEX11B CL E G H8799912ORPHA182478853603867
HP:0007957HP:0007957Corneal opacity3PEX12 CL E G H5193912ORPHA1371818854601758
HP:0007957HP:0007957Corneal opacity3PEX13 CL E G H5194912ORPHA1101968855601789
HP:0007957HP:0007957Corneal opacity3PEX14 CL E G H5195912ORPHA151768856601791
HP:0007957HP:0007957Corneal opacity3PEX16 CL E G H9409912ORPHA1151498857603360
HP:0007957HP:0007957Corneal opacity3PEX19 CL E G H5824912ORPHA141339713600279
HP:0007957HP:0007957Corneal opacity3PEX2 CL E G H5828912ORPHA1182089717170993
HP:0007957HP:0007957Corneal opacity3PEX26 CL E G H55670912ORPHA12727722965608666
HP:0007957HP:0007957Corneal opacity3PEX3 CL E G H8504912ORPHA1101168858603164
HP:0007957HP:0007957Corneal opacity3PEX5 CL E G H5830912ORPHA1142809719600414
HP:0007957HP:0007957Corneal opacity3PEX6 CL E G H5190912ORPHA11093758859601498
HP:0007957HP:0007957Corneal opacity3PIGL CL E G H94873474Meningoencephalocele-arthrogryposis-hypoplastic thumbORPHA111988966605947
HP:0007957HP:0007957Corneal opacity3PIGN CL E G H235562059ORPHA1344168967606097
HP:0007957HP:0007957Corneal opacity3PLXND1 CL E G H23129570ORPHA181049107604282
HP:0007957HP:0007957Corneal opacity3POMGNT1 CL E G H55624899ORPHA18946119139606822
HP:0007957HP:0007957Corneal opacity3POMGNT2 CL E G H84892899ORPHA1919125902614828
HP:0007957HP:0007957Corneal opacity3POMK CL E G H84197899ORPHA1814826267615247
HP:0007957HP:0007957Corneal opacity3POMT1 CL E G H10585899ORPHA1965089202607423
HP:0007957HP:0007957Corneal opacity3POMT1 CL E G H10585236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM1965089202607423
HP:0007957HP:0007957Corneal opacity3POMT2 CL E G H29954899ORPHA17550219743607439
HP:0007957HP:0007957Corneal opacity3POMT2 CL E G H29954236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM17550219743607439
HP:0007957HP:0007957Corneal opacity3PORCN CL E G H648402092EhrlichiosisORPHA112121017652300651
HP:0007957HP:0007957Corneal opacity3REV3L CL E G H5980570ORPHA191249968602776
HP:0007957HP:0007957Corneal opacity3RIPK4 CL E G H541011234Chang Davidson Carlson syndromeORPHA116222496605706
HP:0007957HP:0007957Corneal opacity3RXYLT1 CL E G H10329899ORPHA1810613530605862
HP:0007957HP:0007957Corneal opacity3SLC20A2 CL E G H65751980ORPHA18918210947158378
HP:0007957HP:0007957Corneal opacity3SLC4A11 CL E G H839591490Congenital ichtyosiform erythrodermaORPHA19525016438610206
HP:0007957HP:0007957Corneal opacity3STS CL E G H412281090ORPHA17240611425300747
HP:0007957HP:0007957Corneal opacity3SUMF1 CL E G H285362585ORPHA15526520376607939
HP:0007957HP:0007957Corneal opacity3SUMF1 CL E G H285362272200Multiple sulfatase deficiency272200C0268263OMIM15526520376607939
HP:0007957HP:0007957Corneal opacity3TAT CL E G H689828378ORPHA13614011573613018
HP:0007957HP:0007957Corneal opacity3TRIP13 CL E G H93191052Mosaic variegated aneuploidy syndromeC1850343ORPHA1216212307604507
HP:0007957HP:0007957Corneal opacity3TWIST2 CL E G H117581920Bone dysplasia Azouz typeORPHA198820670607556
HP:0007957HP:0007957Corneal opacity3XPR1 CL E G H92131980ORPHA1105712827605237
HP:0007957HP:0007957Corneal opacity4ABCA1 CL E G H19425ORPHA124035229600046
HP:0007957HP:0007957Corneal opacity4ALDH18A1 CL E G H5832616603Cutis laxa, autosomal dominant 3616603C4225268OMIM1332529722138250
HP:0007957HP:0007957Corneal opacity4APOA1 CL E G H335425ORPHA17776600107680
HP:0007957HP:0007957Corneal opacity4ATOH7 CL E G H220202221900Persistent hyperplastic primary vitreous, autosomal recessive221900C1857299OMIM194113907609875
HP:0007957HP:0007957Corneal opacity4B3GALNT2 CL E G H148789899ORPHA11622128596610194
HP:0007957HP:0007957Corneal opacity4B3GLCT CL E G H145173709ORPHA11518120207610308
HP:0007957HP:0007957Corneal opacity4B4GAT1 CL E G H11041899ORPHA178415685605517
HP:0007957HP:0007957Corneal opacity4BUB1 CL E G H6991052Mosaic variegated aneuploidy syndromeC1850343ORPHA120851148602452
HP:0007957HP:0007957Corneal opacity4BUB1B CL E G H7011052Mosaic variegated aneuploidy syndromeC1850343ORPHA1293231149602860
HP:0007957HP:0007957Corneal opacity4BUB3 CL E G H91841052Mosaic variegated aneuploidy syndromeC1850343ORPHA16491151603719
HP:0007957HP:0007957Corneal opacity4CEP57 CL E G H97021052Mosaic variegated aneuploidy syndromeC1850343ORPHA1515530794607951
HP:0007957HP:0007957Corneal opacity4COL11A1 CL E G H130190654ORPHA11065602186120280
HP:0007957HP:0007957Corneal opacity4COL4A1 CL E G H1282899ORPHA11144982202120130
HP:0007957HP:0007957Corneal opacity4COL8A2 CL E G H1296609140Corneal dystrophy, posterior polymorphous, 2609140C1852795OMIM18182216120252
HP:0007957HP:0007957Corneal opacity4CTSA CL E G H5476351ORPHA1391199251613111
HP:0007957HP:0007957Corneal opacity4CYP1B1 CL E G H1545617315Anterior segment dysgenesis 6617315C4310623OMIM12432162597601771
HP:0007957HP:0007957Corneal opacity4DAG1 CL E G H1605899ORPHA1113012666128239
HP:0007957HP:0007957Corneal opacity4FGFR1 CL E G H22602396ORPHA12653883688136350
HP:0007957HP:0007957Corneal opacity4FKRP CL E G H79147899ORPHA114140217997606596
HP:0007957HP:0007957Corneal opacity4FKRP CL E G H79147613153Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5613153C3150413OMIM114140217997606596
HP:0007957HP:0007957Corneal opacity4FKRP CL E G H79147236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM114140217997606596
HP:0007957HP:0007957Corneal opacity4FKTN CL E G H2218899ORPHA1594503622607440
HP:0007957HP:0007957Corneal opacity4FKTN CL E G H2218236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM1594503622607440
HP:0007957HP:0007957Corneal opacity4FLNB CL E G H2317150250Larsen syndrome, dominant type150250C1835564OMIM11225203755603381
HP:0007957HP:0007957Corneal opacity4FRAS1 CL E G H80144219000Cryptophthalmos syndrome219000C0265233OMIM16167519185607830
HP:0007957HP:0007957Corneal opacity4FUCA1 CL E G H2517349Neuroaxonal dystrophy renal tubular acidosisORPHA1341094006612280
HP:0007957HP:0007957Corneal opacity4GLA CL E G H2717324Slti Salem syndromeORPHA19667284296300644
HP:0007957HP:0007957Corneal opacity4GUSB CL E G H2990584Al Gazali Donnai Mueller syndromeORPHA1661574696611499
HP:0007957HP:0007957Corneal opacity4GUSB CL E G H2990253220Mucopolysaccharidosis type VII253220C0085132OMIM1661574696611499
HP:0007957HP:0007957Corneal opacity4IDUA CL E G H342593476ORPHA12916225391252800
HP:0007957HP:0007957Corneal opacity4IDUA CL E G H342593474ORPHA12916225391252800
HP:0007957HP:0007957Corneal opacity4IDUA CL E G H342593473ORPHA12916225391252800
HP:0007957HP:0007957Corneal opacity4IDUA CL E G H3425607015Mucopolysaccharidosis, MPS-I-H/S607015C0086431OMIM12916225391252800
HP:0007957HP:0007957Corneal opacity4IDUA CL E G H3425607016Mucopolysaccharidosis, MPS-I-S607016C0026708OMIM12916225391252800
HP:0007957HP:0007957Corneal opacity4IKBKG CL E G H8517464Achromatopsia incomplete X-linkedCN036572ORPHA11512955961300248
HP:0007957HP:0007957Corneal opacity4ISPD CL E G H729920899ORPHA147537276614631
HP:0007957HP:0007957Corneal opacity4KIF11 CL E G H3832152950Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation152950C1835265OMIM1701726388148760
HP:0007957HP:0007957Corneal opacity4KRAS CL E G H38452396ORPHA1452746407190070
HP:0007957HP:0007957Corneal opacity4LARGE1 CL E G H9215899ORPHA1284066511603590
HP:0007957HP:0007957Corneal opacity4LARGE1 CL E G H9215236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM1284066511603590
HP:0007957HP:0007957Corneal opacity4LCAT CL E G H393179292ORPHA1109786522606967
HP:0007957HP:0007957Corneal opacity4LRP5 CL E G H40412788ORPHA12214116697603506
HP:0007957HP:0007957Corneal opacity4LTBP2 CL E G H4053613086Glaucoma 3, primary congenital, d613086C2751316OMIM1292996715602091
HP:0007957HP:0007957Corneal opacity4MCOLN1 CL E G H57192578Akesson syndromeORPHA13622813356605248
HP:0007957HP:0007957Corneal opacity4MMP14 CL E G H4323277950Winchester syndrome277950C0432289OMIM110377160600754
HP:0007957HP:0007957Corneal opacity4NEU1 CL E G H4758812ORPHA1641027758608272
HP:0007957HP:0007957Corneal opacity4PAX6 CL E G H5080120200Congenital ocular coloboma120200C0009363OMIM15714968620607108
HP:0007957HP:0007957Corneal opacity4PAX6 CL E G H5080604229Irido-corneo-trabecular dysgenesis604229C0344559OMIM15714968620607108
HP:0007957HP:0007957Corneal opacity4PDGFB CL E G H51551980ORPHA123448800190040
HP:0007957HP:0007957Corneal opacity4PDGFRB CL E G H51591980ORPHA1241508804173410
HP:0007957HP:0007957Corneal opacity4PEX1 CL E G H5189912ORPHA11404898850602136
HP:0007957HP:0007957Corneal opacity4PEX10 CL E G H5192912ORPHA1323478851602859
HP:0007957HP:0007957Corneal opacity4PEX11B CL E G H8799912ORPHA182478853603867
HP:0007957HP:0007957Corneal opacity4PEX12 CL E G H5193912ORPHA1371818854601758
HP:0007957HP:0007957Corneal opacity4PEX13 CL E G H5194912ORPHA1101968855601789
HP:0007957HP:0007957Corneal opacity4PEX14 CL E G H5195912ORPHA151768856601791
HP:0007957HP:0007957Corneal opacity4PEX16 CL E G H9409912ORPHA1151498857603360
HP:0007957HP:0007957Corneal opacity4PEX19 CL E G H5824912ORPHA141339713600279
HP:0007957HP:0007957Corneal opacity4PEX2 CL E G H5828912ORPHA1182089717170993
HP:0007957HP:0007957Corneal opacity4PEX26 CL E G H55670912ORPHA12727722965608666
HP:0007957HP:0007957Corneal opacity4PEX3 CL E G H8504912ORPHA1101168858603164
HP:0007957HP:0007957Corneal opacity4PEX5 CL E G H5830912ORPHA1142809719600414
HP:0007957HP:0007957Corneal opacity4PEX6 CL E G H5190912ORPHA11093758859601498
HP:0007957HP:0007957Corneal opacity4PIGL CL E G H94873474Meningoencephalocele-arthrogryposis-hypoplastic thumbORPHA111988966605947
HP:0007957HP:0007957Corneal opacity4PIGN CL E G H235562059ORPHA1344168967606097
HP:0007957HP:0007957Corneal opacity4PLXND1 CL E G H23129570ORPHA181049107604282
HP:0007957HP:0007957Corneal opacity4POMGNT1 CL E G H55624899ORPHA18946119139606822
HP:0007957HP:0007957Corneal opacity4POMGNT2 CL E G H84892899ORPHA1919125902614828
HP:0007957HP:0007957Corneal opacity4POMK CL E G H84197899ORPHA1814826267615247
HP:0007957HP:0007957Corneal opacity4POMT1 CL E G H10585899ORPHA1965089202607423
HP:0007957HP:0007957Corneal opacity4POMT1 CL E G H10585236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM1965089202607423
HP:0007957HP:0007957Corneal opacity4POMT2 CL E G H29954899ORPHA17550219743607439
HP:0007957HP:0007957Corneal opacity4POMT2 CL E G H29954236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM17550219743607439
HP:0007957HP:0007957Corneal opacity4PORCN CL E G H648402092EhrlichiosisORPHA112121017652300651
HP:0007957HP:0007957Corneal opacity4REV3L CL E G H5980570ORPHA191249968602776
HP:0007957HP:0007957Corneal opacity4RIPK4 CL E G H541011234Chang Davidson Carlson syndromeORPHA116222496605706
HP:0007957HP:0007957Corneal opacity4RXYLT1 CL E G H10329899ORPHA1810613530605862
HP:0007957HP:0007957Corneal opacity4SLC20A2 CL E G H65751980ORPHA18918210947158378
HP:0007957HP:0007957Corneal opacity4SLC4A11 CL E G H839591490Congenital ichtyosiform erythrodermaORPHA19525016438610206
HP:0007957HP:0007957Corneal opacity4STS CL E G H412281090ORPHA17240611425300747
HP:0007957HP:0007957Corneal opacity4SUMF1 CL E G H285362585ORPHA15526520376607939
HP:0007957HP:0007957Corneal opacity4SUMF1 CL E G H285362272200Multiple sulfatase deficiency272200C0268263OMIM15526520376607939
HP:0007957HP:0007957Corneal opacity4TAT CL E G H689828378ORPHA13614011573613018
HP:0007957HP:0007957Corneal opacity4TRIP13 CL E G H93191052Mosaic variegated aneuploidy syndromeC1850343ORPHA1216212307604507
HP:0007957HP:0007957Corneal opacity4TWIST2 CL E G H117581920Bone dysplasia Azouz typeORPHA198820670607556
HP:0007957HP:0007957Corneal opacity4XPR1 CL E G H92131980ORPHA1105712827605237
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0007957HP:0007957Corneal opacity0ABCA1 CL E G H1931150ORPHA024035229600046
HP:0007957HP:0007957Corneal opacity0ASAH1 CL E G H427333ORPHA071306735613468
HP:0007957HP:0007957Corneal opacity0ATAD3A CL E G H55210496790ORPHA01718625567612316
HP:0007957HP:0007957Corneal opacity0BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA05187961605681
HP:0007957HP:0007957Corneal opacity0CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA011742586603432
HP:0007957HP:0007957Corneal opacity0COL4A1 CL E G H1282607595Brain small vessel disease with hemorrhage607595C1843512OMIM01144982202120130
HP:0007957HP:0007957Corneal opacity0CRYAA CL E G H14091377ORPHA0271292388123580
HP:0007957HP:0007957Corneal opacity0CRYBA4 CL E G H14131377ORPHA010842396123631
HP:0007957HP:0007957Corneal opacity0CRYBB1 CL E G H14141377ORPHA020652397600929
HP:0007957HP:0007957Corneal opacity0CRYBB2 CL E G H14151377ORPHA027532398123620
HP:0007957HP:0007957Corneal opacity0CRYGC CL E G H14201377ORPHA028502410123680
HP:0007957HP:0007957Corneal opacity0CRYGD CL E G H14211377ORPHA027732411123690
HP:0007957HP:0007957Corneal opacity0ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA01275233327130160
HP:0007957HP:0007957Corneal opacity0ELP1 CL E G H85181764ORPHA066605959603722
HP:0007957HP:0007957Corneal opacity0FERMT1 CL E G H556122908ORPHA08322515889607900
HP:0007957HP:0007957Corneal opacity0GJA1 CL E G H2697317Sacral hemangiomas multiple congenital abnormalitiesORPHA01091414274121014
HP:0007957HP:0007957Corneal opacity0GJA8 CL E G H27031377ORPHA0633474281600897
HP:0007957HP:0007957Corneal opacity0GJB3 CL E G H2707317Sacral hemangiomas multiple congenital abnormalitiesORPHA0401224285603324
HP:0007957HP:0007957Corneal opacity0GJB4 CL E G H127534317Sacral hemangiomas multiple congenital abnormalitiesORPHA021464286605425
HP:0007957HP:0007957Corneal opacity0GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA011574659601679
HP:0007957HP:0007957Corneal opacity0GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA062064661604318
HP:0007957HP:0007957Corneal opacity0HRAS CL E G H3265163200Epidermal nevus syndrome163200C0265318OMIM0342955173190020
HP:0007957HP:0007957Corneal opacity0KDSR CL E G H2531317Sacral hemangiomas multiple congenital abnormalitiesORPHA010894021136440
HP:0007957HP:0007957Corneal opacity0KRAS CL E G H3845163200Epidermal nevus syndrome163200C0265318OMIM0452746407190070
HP:0007957HP:0007957Corneal opacity0LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA071936613601329
HP:0007957HP:0007957Corneal opacity0MAF CL E G H40941377ORPHA0221726776177075
HP:0007957HP:0007957Corneal opacity0MBTPS2 CL E G H513602273Fara Chlupackova syndromeORPHA02620715455300294
HP:0007957HP:0007957Corneal opacity0NF2 CL E G H4771637ORPHA04377777773607379
HP:0007957HP:0007957Corneal opacity0NGLY1 CL E G H55768615273Congenital disorder of deglycosylation615273C3808991OMIM02323417646610661
HP:0007957HP:0007957Corneal opacity0NRAS CL E G H4893163200Epidermal nevus syndrome163200C0265318OMIM0141817989164790
HP:0007957HP:0007957Corneal opacity0OCRL CL E G H4952534Acute myeloblastic leukemia without maturationORPHA02643428108300535
HP:0007957HP:0007957Corneal opacity0PAX6 CL E G H5080137902ORPHA05714968620607108
HP:0007957HP:0007957Corneal opacity0PIK3R1 CL E G H52953163Lactic acidosis congenital infantileORPHA0291568979171833
HP:0007957HP:0007957Corneal opacity0RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA041739970600404
HP:0007957HP:0007957Corneal opacity0SMCHD1 CL E G H23347603457Arhinia choanal atresia microphthalmia603457C1863878OMIM012550029090614982
HP:0007957HP:0007957Corneal opacity0ST14 CL E G H6768602400Ichthyosis, congenital, autosomal recessive 11602400C1865595OMIM0912611344606797
HP:0007957HP:0007957Corneal opacity0TBCE CL E G H69052323Triple-Negative Breast Cancer FindingC2348819ORPHA0816111582604934
HP:0007957HP:0007957Corneal opacity0TBL2 CL E G H26608904Blepharophimosis nasal groove growth retardationORPHA015911586605842
HP:0007957HP:0007957Corneal opacity0YAP1 CL E G H104131473Congenital articular rigidityORPHA0123816262606608
HP:0007957HP:0007957Corneal opacity1ABCA1 CL E G H1931150ORPHA024035229600046
HP:0007957HP:0007957Corneal opacity1ASAH1 CL E G H427333ORPHA071306735613468
HP:0007957HP:0007957Corneal opacity1ATAD3A CL E G H55210496790ORPHA01718625567612316
HP:0007957HP:0007957Corneal opacity1BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA05187961605681
HP:0007957HP:0007957Corneal opacity1CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA011742586603432
HP:0007957HP:0007957Corneal opacity1COL4A1 CL E G H1282607595Brain small vessel disease with hemorrhage607595C1843512OMIM01144982202120130
HP:0007957HP:0007957Corneal opacity1CRYAA CL E G H14091377ORPHA0271292388123580
HP:0007957HP:0007957Corneal opacity1CRYBA4 CL E G H14131377ORPHA010842396123631
HP:0007957HP:0007957Corneal opacity1CRYBB1 CL E G H14141377ORPHA020652397600929
HP:0007957HP:0007957Corneal opacity1CRYBB2 CL E G H14151377ORPHA027532398123620
HP:0007957HP:0007957Corneal opacity1CRYGC CL E G H14201377ORPHA028502410123680
HP:0007957HP:0007957Corneal opacity1CRYGD CL E G H14211377ORPHA027732411123690
HP:0007957HP:0007957Corneal opacity1ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA01275233327130160
HP:0007957HP:0007957Corneal opacity1ELP1 CL E G H85181764ORPHA066605959603722
HP:0007957HP:0007957Corneal opacity1FERMT1 CL E G H556122908ORPHA08322515889607900
HP:0007957HP:0007957Corneal opacity1GJA1 CL E G H2697317Sacral hemangiomas multiple congenital abnormalitiesORPHA01091414274121014
HP:0007957HP:0007957Corneal opacity1GJA8 CL E G H27031377ORPHA0633474281600897
HP:0007957HP:0007957Corneal opacity1GJB3 CL E G H2707317Sacral hemangiomas multiple congenital abnormalitiesORPHA0401224285603324
HP:0007957HP:0007957Corneal opacity1GJB4 CL E G H127534317Sacral hemangiomas multiple congenital abnormalitiesORPHA021464286605425
HP:0007957HP:0007957Corneal opacity1GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA011574659601679
HP:0007957HP:0007957Corneal opacity1GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA062064661604318
HP:0007957HP:0007957Corneal opacity1HRAS CL E G H3265163200Epidermal nevus syndrome163200C0265318OMIM0342955173190020
HP:0007957HP:0007957Corneal opacity1KDSR CL E G H2531317Sacral hemangiomas multiple congenital abnormalitiesORPHA010894021136440
HP:0007957HP:0007957Corneal opacity1KRAS CL E G H3845163200Epidermal nevus syndrome163200C0265318OMIM0452746407190070
HP:0007957HP:0007957Corneal opacity1LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA071936613601329
HP:0007957HP:0007957Corneal opacity1MAF CL E G H40941377ORPHA0221726776177075
HP:0007957HP:0007957Corneal opacity1MBTPS2 CL E G H513602273Fara Chlupackova syndromeORPHA02620715455300294
HP:0007957HP:0007957Corneal opacity1NF2 CL E G H4771637ORPHA04377777773607379
HP:0007957HP:0007957Corneal opacity1NGLY1 CL E G H55768615273Congenital disorder of deglycosylation615273C3808991OMIM02323417646610661
HP:0007957HP:0007957Corneal opacity1NRAS CL E G H4893163200Epidermal nevus syndrome163200C0265318OMIM0141817989164790
HP:0007957HP:0007957Corneal opacity1OCRL CL E G H4952534Acute myeloblastic leukemia without maturationORPHA02643428108300535
HP:0007957HP:0007957Corneal opacity1PAX6 CL E G H5080137902ORPHA05714968620607108
HP:0007957HP:0007957Corneal opacity1PIK3R1 CL E G H52953163Lactic acidosis congenital infantileORPHA0291568979171833
HP:0007957HP:0007957Corneal opacity1RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA041739970600404
HP:0007957HP:0007957Corneal opacity1SMCHD1 CL E G H23347603457Arhinia choanal atresia microphthalmia603457C1863878OMIM012550029090614982
HP:0007957HP:0007957Corneal opacity1ST14 CL E G H6768602400Ichthyosis, congenital, autosomal recessive 11602400C1865595OMIM0912611344606797
HP:0007957HP:0007957Corneal opacity1TBCE CL E G H69052323Triple-Negative Breast Cancer FindingC2348819ORPHA0816111582604934
HP:0007957HP:0007957Corneal opacity1TBL2 CL E G H26608904Blepharophimosis nasal groove growth retardationORPHA015911586605842
HP:0007957HP:0007957Corneal opacity1YAP1 CL E G H104131473Congenital articular rigidityORPHA0123816262606608
HP:0007957HP:0007957Corneal opacity2ABCA1 CL E G H1931150ORPHA024035229600046
HP:0007957HP:0007957Corneal opacity2ASAH1 CL E G H427333ORPHA071306735613468
HP:0007957HP:0007957Corneal opacity2ATAD3A CL E G H55210496790ORPHA01718625567612316
HP:0007957HP:0007957Corneal opacity2BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA05187961605681
HP:0007957HP:0007957Corneal opacity2CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA011742586603432
HP:0007957HP:0007957Corneal opacity2COL4A1 CL E G H1282607595Brain small vessel disease with hemorrhage607595C1843512OMIM01144982202120130
HP:0007957HP:0007957Corneal opacity2CRYAA CL E G H14091377ORPHA0271292388123580
HP:0007957HP:0007957Corneal opacity2CRYBA4 CL E G H14131377ORPHA010842396123631
HP:0007957HP:0007957Corneal opacity2CRYBB1 CL E G H14141377ORPHA020652397600929
HP:0007957HP:0007957Corneal opacity2CRYBB2 CL E G H14151377ORPHA027532398123620
HP:0007957HP:0007957Corneal opacity2CRYGC CL E G H14201377ORPHA028502410123680
HP:0007957HP:0007957Corneal opacity2CRYGD CL E G H14211377ORPHA027732411123690
HP:0007957HP:0007957Corneal opacity2ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA01275233327130160
HP:0007957HP:0007957Corneal opacity2ELP1 CL E G H85181764ORPHA066605959603722
HP:0007957HP:0007957Corneal opacity2FERMT1 CL E G H556122908ORPHA08322515889607900
HP:0007957HP:0007957Corneal opacity2GJA1 CL E G H2697317Sacral hemangiomas multiple congenital abnormalitiesORPHA01091414274121014
HP:0007957HP:0007957Corneal opacity2GJA8 CL E G H27031377ORPHA0633474281600897
HP:0007957HP:0007957Corneal opacity2GJB3 CL E G H2707317Sacral hemangiomas multiple congenital abnormalitiesORPHA0401224285603324
HP:0007957HP:0007957Corneal opacity2GJB4 CL E G H127534317Sacral hemangiomas multiple congenital abnormalitiesORPHA021464286605425
HP:0007957HP:0007957Corneal opacity2GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA011574659601679
HP:0007957HP:0007957Corneal opacity2GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA062064661604318
HP:0007957HP:0007957Corneal opacity2HRAS CL E G H3265163200Epidermal nevus syndrome163200C0265318OMIM0342955173190020
HP:0007957HP:0007957Corneal opacity2KDSR CL E G H2531317Sacral hemangiomas multiple congenital abnormalitiesORPHA010894021136440
HP:0007957HP:0007957Corneal opacity2KRAS CL E G H3845163200Epidermal nevus syndrome163200C0265318OMIM0452746407190070
HP:0007957HP:0007957Corneal opacity2LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA071936613601329
HP:0007957HP:0007957Corneal opacity2MAF CL E G H40941377ORPHA0221726776177075
HP:0007957HP:0007957Corneal opacity2MBTPS2 CL E G H513602273Fara Chlupackova syndromeORPHA02620715455300294
HP:0007957HP:0007957Corneal opacity2NF2 CL E G H4771637ORPHA04377777773607379
HP:0007957HP:0007957Corneal opacity2NGLY1 CL E G H55768615273Congenital disorder of deglycosylation615273C3808991OMIM02323417646610661
HP:0007957HP:0007957Corneal opacity2NRAS CL E G H4893163200Epidermal nevus syndrome163200C0265318OMIM0141817989164790
HP:0007957HP:0007957Corneal opacity2OCRL CL E G H4952534Acute myeloblastic leukemia without maturationORPHA02643428108300535
HP:0007957HP:0007957Corneal opacity2PAX6 CL E G H5080137902ORPHA05714968620607108
HP:0007957HP:0007957Corneal opacity2PIK3R1 CL E G H52953163Lactic acidosis congenital infantileORPHA0291568979171833
HP:0007957HP:0007957Corneal opacity2RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA041739970600404
HP:0007957HP:0007957Corneal opacity2SMCHD1 CL E G H23347603457Arhinia choanal atresia microphthalmia603457C1863878OMIM012550029090614982
HP:0007957HP:0007957Corneal opacity2ST14 CL E G H6768602400Ichthyosis, congenital, autosomal recessive 11602400C1865595OMIM0912611344606797
HP:0007957HP:0007957Corneal opacity2TBCE CL E G H69052323Triple-Negative Breast Cancer FindingC2348819ORPHA0816111582604934
HP:0007957HP:0007957Corneal opacity2TBL2 CL E G H26608904Blepharophimosis nasal groove growth retardationORPHA015911586605842
HP:0007957HP:0007957Corneal opacity2YAP1 CL E G H104131473Congenital articular rigidityORPHA0123816262606608
HP:0007957HP:0007957Corneal opacity3ABCA1 CL E G H1931150ORPHA024035229600046
HP:0007957HP:0007957Corneal opacity3ASAH1 CL E G H427333ORPHA071306735613468
HP:0007957HP:0007957Corneal opacity3ATAD3A CL E G H55210496790ORPHA01718625567612316
HP:0007957HP:0007957Corneal opacity3BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA05187961605681
HP:0007957HP:0007957Corneal opacity3CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA011742586603432
HP:0007957HP:0007957Corneal opacity3COL4A1 CL E G H1282607595Brain small vessel disease with hemorrhage607595C1843512OMIM01144982202120130
HP:0007957HP:0007957Corneal opacity3CRYAA CL E G H14091377ORPHA0271292388123580
HP:0007957HP:0007957Corneal opacity3CRYBA4 CL E G H14131377ORPHA010842396123631
HP:0007957HP:0007957Corneal opacity3CRYBB1 CL E G H14141377ORPHA020652397600929
HP:0007957HP:0007957Corneal opacity3CRYBB2 CL E G H14151377ORPHA027532398123620
HP:0007957HP:0007957Corneal opacity3CRYGC CL E G H14201377ORPHA028502410123680
HP:0007957HP:0007957Corneal opacity3CRYGD CL E G H14211377ORPHA027732411123690
HP:0007957HP:0007957Corneal opacity3ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA01275233327130160
HP:0007957HP:0007957Corneal opacity3ELP1 CL E G H85181764ORPHA066605959603722
HP:0007957HP:0007957Corneal opacity3FERMT1 CL E G H556122908ORPHA08322515889607900
HP:0007957HP:0007957Corneal opacity3GJA1 CL E G H2697317Sacral hemangiomas multiple congenital abnormalitiesORPHA01091414274121014
HP:0007957HP:0007957Corneal opacity3GJA8 CL E G H27031377ORPHA0633474281600897
HP:0007957HP:0007957Corneal opacity3GJB3 CL E G H2707317Sacral hemangiomas multiple congenital abnormalitiesORPHA0401224285603324
HP:0007957HP:0007957Corneal opacity3GJB4 CL E G H127534317Sacral hemangiomas multiple congenital abnormalitiesORPHA021464286605425
HP:0007957HP:0007957Corneal opacity3GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA011574659601679
HP:0007957HP:0007957Corneal opacity3GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA062064661604318
HP:0007957HP:0007957Corneal opacity3HRAS CL E G H3265163200Epidermal nevus syndrome163200C0265318OMIM0342955173190020
HP:0007957HP:0007957Corneal opacity3KDSR CL E G H2531317Sacral hemangiomas multiple congenital abnormalitiesORPHA010894021136440
HP:0007957HP:0007957Corneal opacity3KRAS CL E G H3845163200Epidermal nevus syndrome163200C0265318OMIM0452746407190070
HP:0007957HP:0007957Corneal opacity3LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA071936613601329
HP:0007957HP:0007957Corneal opacity3MAF CL E G H40941377ORPHA0221726776177075
HP:0007957HP:0007957Corneal opacity3MBTPS2 CL E G H513602273Fara Chlupackova syndromeORPHA02620715455300294
HP:0007957HP:0007957Corneal opacity3NF2 CL E G H4771637ORPHA04377777773607379
HP:0007957HP:0007957Corneal opacity3NGLY1 CL E G H55768615273Congenital disorder of deglycosylation615273C3808991OMIM02323417646610661
HP:0007957HP:0007957Corneal opacity3NRAS CL E G H4893163200Epidermal nevus syndrome163200C0265318OMIM0141817989164790
HP:0007957HP:0007957Corneal opacity3OCRL CL E G H4952534Acute myeloblastic leukemia without maturationORPHA02643428108300535
HP:0007957HP:0007957Corneal opacity3PAX6 CL E G H5080137902ORPHA05714968620607108
HP:0007957HP:0007957Corneal opacity3PIK3R1 CL E G H52953163Lactic acidosis congenital infantileORPHA0291568979171833
HP:0007957HP:0007957Corneal opacity3RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA041739970600404
HP:0007957HP:0007957Corneal opacity3SMCHD1 CL E G H23347603457Arhinia choanal atresia microphthalmia603457C1863878OMIM012550029090614982
HP:0007957HP:0007957Corneal opacity3ST14 CL E G H6768602400Ichthyosis, congenital, autosomal recessive 11602400C1865595OMIM0912611344606797
HP:0007957HP:0007957Corneal opacity3TBCE CL E G H69052323Triple-Negative Breast Cancer FindingC2348819ORPHA0816111582604934
HP:0007957HP:0007957Corneal opacity3TBL2 CL E G H26608904Blepharophimosis nasal groove growth retardationORPHA015911586605842
HP:0007957HP:0007957Corneal opacity3YAP1 CL E G H104131473Congenital articular rigidityORPHA0123816262606608
HP:0007957HP:0007957Corneal opacity4ABCA1 CL E G H1931150ORPHA024035229600046
HP:0007957HP:0007957Corneal opacity4ASAH1 CL E G H427333ORPHA071306735613468
HP:0007957HP:0007957Corneal opacity4ATAD3A CL E G H55210496790ORPHA01718625567612316
HP:0007957HP:0007957Corneal opacity4BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA05187961605681
HP:0007957HP:0007957Corneal opacity4CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA011742586603432
HP:0007957HP:0007957Corneal opacity4COL4A1 CL E G H1282607595Brain small vessel disease with hemorrhage607595C1843512OMIM01144982202120130
HP:0007957HP:0007957Corneal opacity4CRYAA CL E G H14091377ORPHA0271292388123580
HP:0007957HP:0007957Corneal opacity4CRYBA4 CL E G H14131377ORPHA010842396123631
HP:0007957HP:0007957Corneal opacity4CRYBB1 CL E G H14141377ORPHA020652397600929
HP:0007957HP:0007957Corneal opacity4CRYBB2 CL E G H14151377ORPHA027532398123620
HP:0007957HP:0007957Corneal opacity4CRYGC CL E G H14201377ORPHA028502410123680
HP:0007957HP:0007957Corneal opacity4CRYGD CL E G H14211377ORPHA027732411123690
HP:0007957HP:0007957Corneal opacity4ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA01275233327130160
HP:0007957HP:0007957Corneal opacity4ELP1 CL E G H85181764ORPHA066605959603722
HP:0007957HP:0007957Corneal opacity4FERMT1 CL E G H556122908ORPHA08322515889607900
HP:0007957HP:0007957Corneal opacity4GJA1 CL E G H2697317Sacral hemangiomas multiple congenital abnormalitiesORPHA01091414274121014
HP:0007957HP:0007957Corneal opacity4GJA8 CL E G H27031377ORPHA0633474281600897
HP:0007957HP:0007957Corneal opacity4GJB3 CL E G H2707317Sacral hemangiomas multiple congenital abnormalitiesORPHA0401224285603324
HP:0007957HP:0007957Corneal opacity4GJB4 CL E G H127534317Sacral hemangiomas multiple congenital abnormalitiesORPHA021464286605425
HP:0007957HP:0007957Corneal opacity4GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA011574659601679
HP:0007957HP:0007957Corneal opacity4GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA062064661604318
HP:0007957HP:0007957Corneal opacity4HRAS CL E G H3265163200Epidermal nevus syndrome163200C0265318OMIM0342955173190020
HP:0007957HP:0007957Corneal opacity4KDSR CL E G H2531317Sacral hemangiomas multiple congenital abnormalitiesORPHA010894021136440
HP:0007957HP:0007957Corneal opacity4KRAS CL E G H3845163200Epidermal nevus syndrome163200C0265318OMIM0452746407190070
HP:0007957HP:0007957Corneal opacity4LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA071936613601329
HP:0007957HP:0007957Corneal opacity4MAF CL E G H40941377ORPHA0221726776177075
HP:0007957HP:0007957Corneal opacity4MBTPS2 CL E G H513602273Fara Chlupackova syndromeORPHA02620715455300294
HP:0007957HP:0007957Corneal opacity4NF2 CL E G H4771637ORPHA04377777773607379
HP:0007957HP:0007957Corneal opacity4NGLY1 CL E G H55768615273Congenital disorder of deglycosylation615273C3808991OMIM02323417646610661
HP:0007957HP:0007957Corneal opacity4NRAS CL E G H4893163200Epidermal nevus syndrome163200C0265318OMIM0141817989164790
HP:0007957HP:0007957Corneal opacity4OCRL CL E G H4952534Acute myeloblastic leukemia without maturationORPHA02643428108300535
HP:0007957HP:0007957Corneal opacity4PAX6 CL E G H5080137902ORPHA05714968620607108
HP:0007957HP:0007957Corneal opacity4PIK3R1 CL E G H52953163Lactic acidosis congenital infantileORPHA0291568979171833
HP:0007957HP:0007957Corneal opacity4RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA041739970600404
HP:0007957HP:0007957Corneal opacity4SMCHD1 CL E G H23347603457Arhinia choanal atresia microphthalmia603457C1863878OMIM012550029090614982
HP:0007957HP:0007957Corneal opacity4ST14 CL E G H6768602400Ichthyosis, congenital, autosomal recessive 11602400C1865595OMIM0912611344606797
HP:0007957HP:0007957Corneal opacity4TBCE CL E G H69052323Triple-Negative Breast Cancer FindingC2348819ORPHA0816111582604934
HP:0007957HP:0007957Corneal opacity4TBL2 CL E G H26608904Blepharophimosis nasal groove growth retardationORPHA015911586605842
HP:0007957HP:0007957Corneal opacity4YAP1 CL E G H104131473Congenital articular rigidityORPHA0123816262606608


Genes (206) :ABCA1 AIRE ALDH18A1 ALDH3A2 APOA1 APOB APOE ARSB ASAH1 ATAD3A ATOH7 ATP7B B3GALNT2 B3GLCT B4GAT1 B9D1 B9D2 BAZ1B BMP4 BUB1 BUB1B BUB3 CC2D2A CENPF CEP290 CEP55 CEP57 CHRDL1 CHST6 CLIP2 COL11A1 COL18A1 COL4A1 COL7A1 COL8A2 COX7B CRPPA CRYAA CRYBA4 CRYBB1 CRYBB2 CRYGC CRYGD CSPP1 CTNS CTSA CYP1B1 DAG1 DDB2 DHCR7 DST ELN ELP1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8 ESCO2 FERMT1 FGFR1 FIG4 FKRP FKTN FLNB FOXC1 FOXE3 FRAS1 FUCA1 GALNS GBA GJA1 GJA8 GJB2 GJB3 GJB4 GLA GLB1 GNAS GNPTAB GNPTG GTF2I GTF2IRD1 GUSB HCCS HMX1 HRAS IDUA IKBKG ISPD JAG1 KDSR KERA KIF11 KRAS KRT12 KRT3 LARGE1 LCAT LDLR LETM1 LIFR LIMK1 LRP5 LTBP2 MAB21L2 MAF MBTPS2 MCOLN1 MKS1 MMP14 MMP2 NAGA NDP NDUFB11 NELFA NEU1 NF2 NGLY1 NLRP3 NOD2 NRAS NSD2 NTRK1 OCLN OCRL OVOL2 PAX6 PDGFB PDGFRB PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PIGL PIGN PIK3R1 PITX2 PITX3 PLXND1 POLA1 POMGNT1 POMGNT2 POMK POMT1 POMT2 PORCN PRDM12 PRDM5 PXDN RAB23 RAX REV3L RFC2 RIPK4 RPGRIP1 RPGRIP1L RXYLT1 SC5D SCARF2 SLC20A2 SLC25A24 SLC29A3 SLC4A11 SLC4A4 SMARCAL1 SMCHD1 SOX2 ST14 STS SUMF1 TAT TBCE TBL2 TBX1 TCTN2 TGFBI TMEM107 TMEM216 TMEM231 TMEM67 TRAPPC2 TRIP13 TRPV3 TWIST2 UBIAD1 UROS VAC14 WDPCP WDR73 WT1 XPA XPC XPR1 YAP1 ZNF469

Diseases (173) :425 31150 616603 333 496790 221900 899 709 904 1052 90654 607595 609140 1377 351 617315 1764 2908 2396 613153 236670 150250 219000 349 317 324 584 253220 163200 93474 93476 93473 607015 607016 464 152950 79292 2788 613086 2273 578 277950 812 637 615273 534 137902 120200 604229 1980 912 3474 2059 3163 570 2092 1234 1490 603457 602400 281090 585 272200 28378 2323 920 1473 205400 3453 270200 253200 905 277900 615287 564 139471 607932 243605 226600 2556 309801 256540 910 818 614653 133540 216400 268300 613001 3472 216340 88632 83461 610256 253000 231005 148210 230650 253010 576 252500 252600 252605 612109 607014 136120 245900 280 601559 615877 308205 252650 79280 649 310600 148200 256800 251290 106210 148190 214100 614866 214110 107250 301220 253280 616488 90354 614170 269400 201000 611038 263650 46059 607330 600920 2095 217400 217700 242900 77298 461 308100 188400 608470 602082 313400 614594 263700 251300 217800 411629 219750 219900 219800 708 122100 259600 219150 144010 412 309300 267750 79443 118450 217300 143890 186580 122000 168569 604278 121900 121800
 

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