Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | DiseaseId | DiseaseName | DiseaseMIM | ConceptID | Source | Typical association | HGMD variants | ClinVar variants | HGNC ID | GeneMIM |
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HPO disease - gene - phenotype typical associations: |
HP:0000481 | HP:0000481 | Abnormal cornea morphology | 0 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1071 | 2348 | 600140 |
HP:0000481 | HP:0000481 | Abnormal cornea morphology | 0 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1012 | 2348 | 600140 |
HP:0000481 | HP:0000481 | Abnormal cornea morphology | 0 | DNAI1 CL E G H | 27019 | 244400 | Kartagener syndrome | 244400 | C0022521 | OMIM | 1 | | 482 | 2954 | 604366 |
HP:0000481 | HP:0000481 | Abnormal cornea morphology | 0 | DNAI1 CL E G H | 27019 | 244400 | Kartagener syndrome | 244400 | C0022521 | OMIM | 1 | | 442 | 2954 | 604366 |
HP:0000481 | HP:0000481 | Abnormal cornea morphology | 0 | EP300 CL E G H | 2033 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 678 | 3373 | 602700 |
HP:0000481 | HP:0000481 | Abnormal cornea morphology | 0 | EP300 CL E G H | 2033 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 731 | 3373 | 602700 |
HP:0000481 | HP:0000481 | Abnormal cornea morphology | 0 | MEGF8 CL E G H | 1954 | 65759 | | | | ORPHA | 1 | | 355 | 3233 | 604267 |
HP:0000481 | HP:0000481 | Abnormal cornea morphology | 0 | MEGF8 CL E G H | 1954 | 65759 | | | | ORPHA | 1 | | 421 | 3233 | 604267 |
HP:0000481 | HP:0000481 | Abnormal cornea morphology | 0 | PITX2 CL E G H | 5308 | 180550 | Ring dermoid of cornea | 180550 | C1867155 | OMIM | 1 | | 174 | 9005 | 601542 |
HP:0000481 | HP:0000481 | Abnormal cornea morphology | 0 | PITX2 CL E G H | 5308 | 180550 | Ring dermoid of cornea | 180550 | C1867155 | OMIM | 1 | | 166 | 9005 | 601542 |
HP:0000481 | HP:0000481 | Abnormal cornea morphology | 0 | RAB23 CL E G H | 51715 | 65759 | | | | ORPHA | 1 | | 158 | 14263 | 606144 |
HP:0000481 | HP:0000481 | Abnormal cornea morphology | 0 | RAB23 CL E G H | 51715 | 65759 | | | | ORPHA | 1 | | 152 | 14263 | 606144 |
HP:0000481 | HP:0001120 | Abnormality of corneal size | 1 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1071 | 2348 | 600140 |
HP:0000481 | HP:0100691 | Abnormality of the curvature of the cornea | 1 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1071 | 2348 | 600140 |
HP:0000481 | HP:0011496 | Corneal neovascularization | 1 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1071 | 2348 | 600140 |
HP:0000481 | HP:0011492 | Abnormality of corneal stroma | 1 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1071 | 2348 | 600140 |
HP:0000481 | HP:0001140 | Limbal dermoid | 1 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1071 | 2348 | 600140 |
HP:0000481 | HP:0500008 | Cornea verticillata | 1 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1071 | 2348 | 600140 |
HP:0000481 | HP:0025348 | Abnormality of the corneal limbus | 1 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1071 | 2348 | 600140 |
HP:0000481 | HP:0011488 | Abnormal corneal endothelium morphology | 1 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1071 | 2348 | 600140 |
HP:0000481 | HP:0008000 | Decreased corneal reflex | 1 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1071 | 2348 | 600140 |
HP:0000481 | HP:0001120 | Abnormality of corneal size | 1 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1012 | 2348 | 600140 |
HP:0000481 | HP:0100691 | Abnormality of the curvature of the cornea | 1 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1012 | 2348 | 600140 |
HP:0000481 | HP:0011496 | Corneal neovascularization | 1 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1012 | 2348 | 600140 |
HP:0000481 | HP:0011492 | Abnormality of corneal stroma | 1 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1012 | 2348 | 600140 |
HP:0000481 | HP:0001140 | Limbal dermoid | 1 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1012 | 2348 | 600140 |
HP:0000481 | HP:0500008 | Cornea verticillata | 1 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1012 | 2348 | 600140 |
HP:0000481 | HP:0025348 | Abnormality of the corneal limbus | 1 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1012 | 2348 | 600140 |
HP:0000481 | HP:0011488 | Abnormal corneal endothelium morphology | 1 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1012 | 2348 | 600140 |
HP:0000481 | HP:0008000 | Decreased corneal reflex | 1 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1012 | 2348 | 600140 |
HP:0000481 | HP:0012155 | Decreased corneal sensation | 1 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1071 | 2348 | 600140 |
HP:0000481 | HP:0001131 | Corneal dystrophy | 1 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1071 | 2348 | 600140 |
HP:0000481 | HP:0007957 | Corneal opacity | 1 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1071 | 2348 | 600140 |
HP:0000481 | HP:0011486 | Abnormality of corneal thickness | 1 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1071 | 2348 | 600140 |
HP:0000481 | HP:0008048 | Abnormality of the line of Schwalbe | 1 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1071 | 2348 | 600140 |
HP:0000481 | HP:0100583 | Corneal perforation | 1 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1071 | 2348 | 600140 |
HP:0000481 | HP:0011495 | Abnormal corneal epithelium morphology | 1 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1071 | 2348 | 600140 |
HP:0000481 | HP:0007705 | Corneal degeneration | 1 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1071 | 2348 | 600140 |
HP:0000481 | HP:0040004 | Abnormality of corneal shape | 1 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1071 | 2348 | 600140 |
HP:0000481 | HP:0012155 | Decreased corneal sensation | 1 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1012 | 2348 | 600140 |
HP:0000481 | HP:0001131 | Corneal dystrophy | 1 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1012 | 2348 | 600140 |
HP:0000481 | HP:0007957 | Corneal opacity | 1 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1012 | 2348 | 600140 |
HP:0000481 | HP:0011486 | Abnormality of corneal thickness | 1 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1012 | 2348 | 600140 |
HP:0000481 | HP:0008048 | Abnormality of the line of Schwalbe | 1 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1012 | 2348 | 600140 |
HP:0000481 | HP:0100583 | Corneal perforation | 1 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1012 | 2348 | 600140 |
HP:0000481 | HP:0011495 | Abnormal corneal epithelium morphology | 1 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1012 | 2348 | 600140 |
HP:0000481 | HP:0007705 | Corneal degeneration | 1 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1012 | 2348 | 600140 |
HP:0000481 | HP:0040004 | Abnormality of corneal shape | 1 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1012 | 2348 | 600140 |
HP:0000481 | HP:0008048 | Abnormality of the line of Schwalbe | 1 | DNAI1 CL E G H | 27019 | 244400 | Kartagener syndrome | 244400 | C0022521 | OMIM | 1 | | 442 | 2954 | 604366 |
HP:0000481 | HP:0100583 | Corneal perforation | 1 | DNAI1 CL E G H | 27019 | 244400 | Kartagener syndrome | 244400 | C0022521 | OMIM | 1 | | 442 | 2954 | 604366 |
HP:0000481 | HP:0011495 | Abnormal corneal epithelium morphology | 1 | DNAI1 CL E G H | 27019 | 244400 | Kartagener syndrome | 244400 | C0022521 | OMIM | 1 | | 442 | 2954 | 604366 |
HP:0000481 | HP:0007705 | Corneal degeneration | 1 | DNAI1 CL E G H | 27019 | 244400 | Kartagener syndrome | 244400 | C0022521 | OMIM | 1 | | 442 | 2954 | 604366 |
HP:0000481 | HP:0040004 | Abnormality of corneal shape | 1 | DNAI1 CL E G H | 27019 | 244400 | Kartagener syndrome | 244400 | C0022521 | OMIM | 1 | | 442 | 2954 | 604366 |
HP:0000481 | HP:0012155 | Decreased corneal sensation | 1 | DNAI1 CL E G H | 27019 | 244400 | Kartagener syndrome | 244400 | C0022521 | OMIM | 1 | | 442 | 2954 | 604366 |
HP:0000481 | HP:0001131 | Corneal dystrophy | 1 | DNAI1 CL E G H | 27019 | 244400 | Kartagener syndrome | 244400 | C0022521 | OMIM | 1 | | 442 | 2954 | 604366 |
HP:0000481 | HP:0007957 | Corneal opacity | 1 | DNAI1 CL E G H | 27019 | 244400 | Kartagener syndrome | 244400 | C0022521 | OMIM | 1 | | 442 | 2954 | 604366 |
HP:0000481 | HP:0011486 | Abnormality of corneal thickness | 1 | DNAI1 CL E G H | 27019 | 244400 | Kartagener syndrome | 244400 | C0022521 | OMIM | 1 | | 442 | 2954 | 604366 |
HP:0000481 | HP:0011492 | Abnormality of corneal stroma | 1 | DNAI1 CL E G H | 27019 | 244400 | Kartagener syndrome | 244400 | C0022521 | OMIM | 1 | | 482 | 2954 | 604366 |
HP:0000481 | HP:0001140 | Limbal dermoid | 1 | DNAI1 CL E G H | 27019 | 244400 | Kartagener syndrome | 244400 | C0022521 | OMIM | 1 | | 482 | 2954 | 604366 |
HP:0000481 | HP:0500008 | Cornea verticillata | 1 | DNAI1 CL E G H | 27019 | 244400 | Kartagener syndrome | 244400 | C0022521 | OMIM | 1 | | 482 | 2954 | 604366 |
HP:0000481 | HP:0025348 | Abnormality of the corneal limbus | 1 | DNAI1 CL E G H | 27019 | 244400 | Kartagener syndrome | 244400 | C0022521 | OMIM | 1 | | 482 | 2954 | 604366 |
HP:0000481 | HP:0011488 | Abnormal corneal endothelium morphology | 1 | DNAI1 CL E G H | 27019 | 244400 | Kartagener syndrome | 244400 | C0022521 | OMIM | 1 | | 482 | 2954 | 604366 |
HP:0000481 | HP:0008000 | Decreased corneal reflex | 1 | DNAI1 CL E G H | 27019 | 244400 | Kartagener syndrome | 244400 | C0022521 | OMIM | 1 | | 482 | 2954 | 604366 |
HP:0000481 | HP:0001120 | Abnormality of corneal size | 1 | DNAI1 CL E G H | 27019 | 244400 | Kartagener syndrome | 244400 | C0022521 | OMIM | 1 | | 482 | 2954 | 604366 |
HP:0000481 | HP:0100691 | Abnormality of the curvature of the cornea | 1 | DNAI1 CL E G H | 27019 | 244400 | Kartagener syndrome | 244400 | C0022521 | OMIM | 1 | | 482 | 2954 | 604366 |
HP:0000481 | HP:0011496 | Corneal neovascularization | 1 | DNAI1 CL E G H | 27019 | 244400 | Kartagener syndrome | 244400 | C0022521 | OMIM | 1 | | 482 | 2954 | 604366 |
HP:0000481 | HP:0011492 | Abnormality of corneal stroma | 1 | DNAI1 CL E G H | 27019 | 244400 | Kartagener syndrome | 244400 | C0022521 | OMIM | 1 | | 442 | 2954 | 604366 |
HP:0000481 | HP:0001140 | Limbal dermoid | 1 | DNAI1 CL E G H | 27019 | 244400 | Kartagener syndrome | 244400 | C0022521 | OMIM | 1 | | 442 | 2954 | 604366 |
HP:0000481 | HP:0500008 | Cornea verticillata | 1 | DNAI1 CL E G H | 27019 | 244400 | Kartagener syndrome | 244400 | C0022521 | OMIM | 1 | | 442 | 2954 | 604366 |
HP:0000481 | HP:0025348 | Abnormality of the corneal limbus | 1 | DNAI1 CL E G H | 27019 | 244400 | Kartagener syndrome | 244400 | C0022521 | OMIM | 1 | | 442 | 2954 | 604366 |
HP:0000481 | HP:0011488 | Abnormal corneal endothelium morphology | 1 | DNAI1 CL E G H | 27019 | 244400 | Kartagener syndrome | 244400 | C0022521 | OMIM | 1 | | 442 | 2954 | 604366 |
HP:0000481 | HP:0008000 | Decreased corneal reflex | 1 | DNAI1 CL E G H | 27019 | 244400 | Kartagener syndrome | 244400 | C0022521 | OMIM | 1 | | 442 | 2954 | 604366 |
HP:0000481 | HP:0001120 | Abnormality of corneal size | 1 | DNAI1 CL E G H | 27019 | 244400 | Kartagener syndrome | 244400 | C0022521 | OMIM | 1 | | 442 | 2954 | 604366 |
HP:0000481 | HP:0100691 | Abnormality of the curvature of the cornea | 1 | DNAI1 CL E G H | 27019 | 244400 | Kartagener syndrome | 244400 | C0022521 | OMIM | 1 | | 442 | 2954 | 604366 |
HP:0000481 | HP:0011496 | Corneal neovascularization | 1 | DNAI1 CL E G H | 27019 | 244400 | Kartagener syndrome | 244400 | C0022521 | OMIM | 1 | | 442 | 2954 | 604366 |
HP:0000481 | HP:0008048 | Abnormality of the line of Schwalbe | 1 | DNAI1 CL E G H | 27019 | 244400 | Kartagener syndrome | 244400 | C0022521 | OMIM | 1 | | 482 | 2954 | 604366 |
HP:0000481 | HP:0100583 | Corneal perforation | 1 | DNAI1 CL E G H | 27019 | 244400 | Kartagener syndrome | 244400 | C0022521 | OMIM | 1 | | 482 | 2954 | 604366 |
HP:0000481 | HP:0011495 | Abnormal corneal epithelium morphology | 1 | DNAI1 CL E G H | 27019 | 244400 | Kartagener syndrome | 244400 | C0022521 | OMIM | 1 | | 482 | 2954 | 604366 |
HP:0000481 | HP:0007705 | Corneal degeneration | 1 | DNAI1 CL E G H | 27019 | 244400 | Kartagener syndrome | 244400 | C0022521 | OMIM | 1 | | 482 | 2954 | 604366 |
HP:0000481 | HP:0040004 | Abnormality of corneal shape | 1 | DNAI1 CL E G H | 27019 | 244400 | Kartagener syndrome | 244400 | C0022521 | OMIM | 1 | | 482 | 2954 | 604366 |
HP:0000481 | HP:0012155 | Decreased corneal sensation | 1 | DNAI1 CL E G H | 27019 | 244400 | Kartagener syndrome | 244400 | C0022521 | OMIM | 1 | | 482 | 2954 | 604366 |
HP:0000481 | HP:0001131 | Corneal dystrophy | 1 | DNAI1 CL E G H | 27019 | 244400 | Kartagener syndrome | 244400 | C0022521 | OMIM | 1 | | 482 | 2954 | 604366 |
HP:0000481 | HP:0007957 | Corneal opacity | 1 | DNAI1 CL E G H | 27019 | 244400 | Kartagener syndrome | 244400 | C0022521 | OMIM | 1 | | 482 | 2954 | 604366 |
HP:0000481 | HP:0011486 | Abnormality of corneal thickness | 1 | DNAI1 CL E G H | 27019 | 244400 | Kartagener syndrome | 244400 | C0022521 | OMIM | 1 | | 482 | 2954 | 604366 |
HP:0000481 | HP:0500008 | Cornea verticillata | 1 | EP300 CL E G H | 2033 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 678 | 3373 | 602700 |
HP:0000481 | HP:0008000 | Decreased corneal reflex | 1 | EP300 CL E G H | 2033 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 678 | 3373 | 602700 |
HP:0000481 | HP:0011496 | Corneal neovascularization | 1 | EP300 CL E G H | 2033 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 678 | 3373 | 602700 |
HP:0000481 | HP:0011486 | Abnormality of corneal thickness | 1 | EP300 CL E G H | 2033 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 731 | 3373 | 602700 |
HP:0000481 | HP:0011495 | Abnormal corneal epithelium morphology | 1 | EP300 CL E G H | 2033 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 731 | 3373 | 602700 |
HP:0000481 | HP:0040004 | Abnormality of corneal shape | 1 | EP300 CL E G H | 2033 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 731 | 3373 | 602700 |
HP:0000481 | HP:0007957 | Corneal opacity | 1 | EP300 CL E G H | 2033 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 731 | 3373 | 602700 |
HP:0000481 | HP:0008048 | Abnormality of the line of Schwalbe | 1 | EP300 CL E G H | 2033 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 731 | 3373 | 602700 |
HP:0000481 | HP:0100583 | Corneal perforation | 1 | EP300 CL E G H | 2033 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 731 | 3373 | 602700 |
HP:0000481 | HP:0007705 | Corneal degeneration | 1 | EP300 CL E G H | 2033 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 731 | 3373 | 602700 |
HP:0000481 | HP:0012155 | Decreased corneal sensation | 1 | EP300 CL E G H | 2033 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 731 | 3373 | 602700 |
HP:0000481 | HP:0001131 | Corneal dystrophy | 1 | EP300 CL E G H | 2033 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 731 | 3373 | 602700 |
HP:0000481 | HP:0011486 | Abnormality of corneal thickness | 1 | EP300 CL E G H | 2033 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 678 | 3373 | 602700 |
HP:0000481 | HP:0011495 | Abnormal corneal epithelium morphology | 1 | EP300 CL E G H | 2033 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 678 | 3373 | 602700 |
HP:0000481 | HP:0040004 | Abnormality of corneal shape | 1 | EP300 CL E G H | 2033 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 678 | 3373 | 602700 |
HP:0000481 | HP:0008048 | Abnormality of the line of Schwalbe | 1 | EP300 CL E G H | 2033 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 678 | 3373 | 602700 |
HP:0000481 | HP:0100583 | Corneal perforation | 1 | EP300 CL E G H | 2033 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 678 | 3373 | 602700 |
HP:0000481 | HP:0007705 | Corneal degeneration | 1 | EP300 CL E G H | 2033 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 678 | 3373 | 602700 |
HP:0000481 | HP:0012155 | Decreased corneal sensation | 1 | EP300 CL E G H | 2033 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 678 | 3373 | 602700 |
HP:0000481 | HP:0001131 | Corneal dystrophy | 1 | EP300 CL E G H | 2033 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 678 | 3373 | 602700 |
HP:0000481 | HP:0007957 | Corneal opacity | 1 | EP300 CL E G H | 2033 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 678 | 3373 | 602700 |
HP:0000481 | HP:0011492 | Abnormality of corneal stroma | 1 | EP300 CL E G H | 2033 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 731 | 3373 | 602700 |
HP:0000481 | HP:0001140 | Limbal dermoid | 1 | EP300 CL E G H | 2033 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 731 | 3373 | 602700 |
HP:0000481 | HP:0025348 | Abnormality of the corneal limbus | 1 | EP300 CL E G H | 2033 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 731 | 3373 | 602700 |
HP:0000481 | HP:0011488 | Abnormal corneal endothelium morphology | 1 | EP300 CL E G H | 2033 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 731 | 3373 | 602700 |
HP:0000481 | HP:0001120 | Abnormality of corneal size | 1 | EP300 CL E G H | 2033 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 731 | 3373 | 602700 |
HP:0000481 | HP:0100691 | Abnormality of the curvature of the cornea | 1 | EP300 CL E G H | 2033 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 731 | 3373 | 602700 |
HP:0000481 | HP:0500008 | Cornea verticillata | 1 | EP300 CL E G H | 2033 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 731 | 3373 | 602700 |
HP:0000481 | HP:0008000 | Decreased corneal reflex | 1 | EP300 CL E G H | 2033 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 731 | 3373 | 602700 |
HP:0000481 | HP:0011496 | Corneal neovascularization | 1 | EP300 CL E G H | 2033 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 731 | 3373 | 602700 |
HP:0000481 | HP:0011492 | Abnormality of corneal stroma | 1 | EP300 CL E G H | 2033 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 678 | 3373 | 602700 |
HP:0000481 | HP:0001140 | Limbal dermoid | 1 | EP300 CL E G H | 2033 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 678 | 3373 | 602700 |
HP:0000481 | HP:0025348 | Abnormality of the corneal limbus | 1 | EP300 CL E G H | 2033 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 678 | 3373 | 602700 |
HP:0000481 | HP:0011488 | Abnormal corneal endothelium morphology | 1 | EP300 CL E G H | 2033 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 678 | 3373 | 602700 |
HP:0000481 | HP:0001120 | Abnormality of corneal size | 1 | EP300 CL E G H | 2033 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 678 | 3373 | 602700 |
HP:0000481 | HP:0100691 | Abnormality of the curvature of the cornea | 1 | EP300 CL E G H | 2033 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 678 | 3373 | 602700 |
HP:0000481 | HP:0001140 | Limbal dermoid | 1 | MEGF8 CL E G H | 1954 | 65759 | | | | ORPHA | 1 | | 355 | 3233 | 604267 |
HP:0000481 | HP:0500008 | Cornea verticillata | 1 | MEGF8 CL E G H | 1954 | 65759 | | | | ORPHA | 1 | | 355 | 3233 | 604267 |
HP:0000481 | HP:0025348 | Abnormality of the corneal limbus | 1 | MEGF8 CL E G H | 1954 | 65759 | | | | ORPHA | 1 | | 355 | 3233 | 604267 |
HP:0000481 | HP:0011488 | Abnormal corneal endothelium morphology | 1 | MEGF8 CL E G H | 1954 | 65759 | | | | ORPHA | 1 | | 355 | 3233 | 604267 |
HP:0000481 | HP:0008000 | Decreased corneal reflex | 1 | MEGF8 CL E G H | 1954 | 65759 | | | | ORPHA | 1 | | 355 | 3233 | 604267 |
HP:0000481 | HP:0001120 | Abnormality of corneal size | 1 | MEGF8 CL E G H | 1954 | 65759 | | | | ORPHA | 1 | | 355 | 3233 | 604267 |
HP:0000481 | HP:0100691 | Abnormality of the curvature of the cornea | 1 | MEGF8 CL E G H | 1954 | 65759 | | | | ORPHA | 1 | | 355 | 3233 | 604267 |
HP:0000481 | HP:0011496 | Corneal neovascularization | 1 | MEGF8 CL E G H | 1954 | 65759 | | | | ORPHA | 1 | | 355 | 3233 | 604267 |
HP:0000481 | HP:0011492 | Abnormality of corneal stroma | 1 | MEGF8 CL E G H | 1954 | 65759 | | | | ORPHA | 1 | | 355 | 3233 | 604267 |
HP:0000481 | HP:0100583 | Corneal perforation | 1 | MEGF8 CL E G H | 1954 | 65759 | | | | ORPHA | 1 | | 421 | 3233 | 604267 |
HP:0000481 | HP:0011495 | Abnormal corneal epithelium morphology | 1 | MEGF8 CL E G H | 1954 | 65759 | | | | ORPHA | 1 | | 421 | 3233 | 604267 |
HP:0000481 | HP:0007705 | Corneal degeneration | 1 | MEGF8 CL E G H | 1954 | 65759 | | | | ORPHA | 1 | | 421 | 3233 | 604267 |
HP:0000481 | HP:0040004 | Abnormality of corneal shape | 1 | MEGF8 CL E G H | 1954 | 65759 | | | | ORPHA | 1 | | 421 | 3233 | 604267 |
HP:0000481 | HP:0012155 | Decreased corneal sensation | 1 | MEGF8 CL E G H | 1954 | 65759 | | | | ORPHA | 1 | | 421 | 3233 | 604267 |
HP:0000481 | HP:0001131 | Corneal dystrophy | 1 | MEGF8 CL E G H | 1954 | 65759 | | | | ORPHA | 1 | | 421 | 3233 | 604267 |
HP:0000481 | HP:0007957 | Corneal opacity | 1 | MEGF8 CL E G H | 1954 | 65759 | | | | ORPHA | 1 | | 421 | 3233 | 604267 |
HP:0000481 | HP:0011486 | Abnormality of corneal thickness | 1 | MEGF8 CL E G H | 1954 | 65759 | | | | ORPHA | 1 | | 421 | 3233 | 604267 |
HP:0000481 | HP:0008048 | Abnormality of the line of Schwalbe | 1 | MEGF8 CL E G H | 1954 | 65759 | | | | ORPHA | 1 | | 421 | 3233 | 604267 |
HP:0000481 | HP:0100583 | Corneal perforation | 1 | MEGF8 CL E G H | 1954 | 65759 | | | | ORPHA | 1 | | 355 | 3233 | 604267 |
HP:0000481 | HP:0011495 | Abnormal corneal epithelium morphology | 1 | MEGF8 CL E G H | 1954 | 65759 | | | | ORPHA | 1 | | 355 | 3233 | 604267 |
HP:0000481 | HP:0007705 | Corneal degeneration | 1 | MEGF8 CL E G H | 1954 | 65759 | | | | ORPHA | 1 | | 355 | 3233 | 604267 |
HP:0000481 | HP:0040004 | Abnormality of corneal shape | 1 | MEGF8 CL E G H | 1954 | 65759 | | | | ORPHA | 1 | | 355 | 3233 | 604267 |
HP:0000481 | HP:0012155 | Decreased corneal sensation | 1 | MEGF8 CL E G H | 1954 | 65759 | | | | ORPHA | 1 | | 355 | 3233 | 604267 |
HP:0000481 | HP:0001131 | Corneal dystrophy | 1 | MEGF8 CL E G H | 1954 | 65759 | | | | ORPHA | 1 | | 355 | 3233 | 604267 |
HP:0000481 | HP:0007957 | Corneal opacity | 1 | MEGF8 CL E G H | 1954 | 65759 | | | | ORPHA | 1 | | 355 | 3233 | 604267 |
HP:0000481 | HP:0011486 | Abnormality of corneal thickness | 1 | MEGF8 CL E G H | 1954 | 65759 | | | | ORPHA | 1 | | 355 | 3233 | 604267 |
HP:0000481 | HP:0008048 | Abnormality of the line of Schwalbe | 1 | MEGF8 CL E G H | 1954 | 65759 | | | | ORPHA | 1 | | 355 | 3233 | 604267 |
HP:0000481 | HP:0001140 | Limbal dermoid | 1 | MEGF8 CL E G H | 1954 | 65759 | | | | ORPHA | 1 | | 421 | 3233 | 604267 |
HP:0000481 | HP:0500008 | Cornea verticillata | 1 | MEGF8 CL E G H | 1954 | 65759 | | | | ORPHA | 1 | | 421 | 3233 | 604267 |
HP:0000481 | HP:0025348 | Abnormality of the corneal limbus | 1 | MEGF8 CL E G H | 1954 | 65759 | | | | ORPHA | 1 | | 421 | 3233 | 604267 |
HP:0000481 | HP:0011488 | Abnormal corneal endothelium morphology | 1 | MEGF8 CL E G H | 1954 | 65759 | | | | ORPHA | 1 | | 421 | 3233 | 604267 |
HP:0000481 | HP:0008000 | Decreased corneal reflex | 1 | MEGF8 CL E G H | 1954 | 65759 | | | | ORPHA | 1 | | 421 | 3233 | 604267 |
HP:0000481 | HP:0001120 | Abnormality of corneal size | 1 | MEGF8 CL E G H | 1954 | 65759 | | | | ORPHA | 1 | | 421 | 3233 | 604267 |
HP:0000481 | HP:0100691 | Abnormality of the curvature of the cornea | 1 | MEGF8 CL E G H | 1954 | 65759 | | | | ORPHA | 1 | | 421 | 3233 | 604267 |
HP:0000481 | HP:0011496 | Corneal neovascularization | 1 | MEGF8 CL E G H | 1954 | 65759 | | | | ORPHA | 1 | | 421 | 3233 | 604267 |
HP:0000481 | HP:0011492 | Abnormality of corneal stroma | 1 | MEGF8 CL E G H | 1954 | 65759 | | | | ORPHA | 1 | | 421 | 3233 | 604267 |
HP:0000481 | HP:0100583 | Corneal perforation | 1 | PITX2 CL E G H | 5308 | 180550 | Ring dermoid of cornea | 180550 | C1867155 | OMIM | 1 | | 174 | 9005 | 601542 |
HP:0000481 | HP:0011495 | Abnormal corneal epithelium morphology | 1 | PITX2 CL E G H | 5308 | 180550 | Ring dermoid of cornea | 180550 | C1867155 | OMIM | 1 | | 174 | 9005 | 601542 |
HP:0000481 | HP:0007705 | Corneal degeneration | 1 | PITX2 CL E G H | 5308 | 180550 | Ring dermoid of cornea | 180550 | C1867155 | OMIM | 1 | | 174 | 9005 | 601542 |
HP:0000481 | HP:0040004 | Abnormality of corneal shape | 1 | PITX2 CL E G H | 5308 | 180550 | Ring dermoid of cornea | 180550 | C1867155 | OMIM | 1 | | 174 | 9005 | 601542 |
HP:0000481 | HP:0012155 | Decreased corneal sensation | 1 | PITX2 CL E G H | 5308 | 180550 | Ring dermoid of cornea | 180550 | C1867155 | OMIM | 1 | | 174 | 9005 | 601542 |
HP:0000481 | HP:0001131 | Corneal dystrophy | 1 | PITX2 CL E G H | 5308 | 180550 | Ring dermoid of cornea | 180550 | C1867155 | OMIM | 1 | | 174 | 9005 | 601542 |
HP:0000481 | HP:0007957 | Corneal opacity | 1 | PITX2 CL E G H | 5308 | 180550 | Ring dermoid of cornea | 180550 | C1867155 | OMIM | 1 | | 174 | 9005 | 601542 |
HP:0000481 | HP:0011486 | Abnormality of corneal thickness | 1 | PITX2 CL E G H | 5308 | 180550 | Ring dermoid of cornea | 180550 | C1867155 | OMIM | 1 | | 174 | 9005 | 601542 |
HP:0000481 | HP:0008048 | Abnormality of the line of Schwalbe | 1 | PITX2 CL E G H | 5308 | 180550 | Ring dermoid of cornea | 180550 | C1867155 | OMIM | 1 | | 174 | 9005 | 601542 |
HP:0000481 | HP:0100583 | Corneal perforation | 1 | PITX2 CL E G H | 5308 | 180550 | Ring dermoid of cornea | 180550 | C1867155 | OMIM | 1 | | 166 | 9005 | 601542 |
HP:0000481 | HP:0011495 | Abnormal corneal epithelium morphology | 1 | PITX2 CL E G H | 5308 | 180550 | Ring dermoid of cornea | 180550 | C1867155 | OMIM | 1 | | 166 | 9005 | 601542 |
HP:0000481 | HP:0007705 | Corneal degeneration | 1 | PITX2 CL E G H | 5308 | 180550 | Ring dermoid of cornea | 180550 | C1867155 | OMIM | 1 | | 166 | 9005 | 601542 |
HP:0000481 | HP:0040004 | Abnormality of corneal shape | 1 | PITX2 CL E G H | 5308 | 180550 | Ring dermoid of cornea | 180550 | C1867155 | OMIM | 1 | | 166 | 9005 | 601542 |
HP:0000481 | HP:0012155 | Decreased corneal sensation | 1 | PITX2 CL E G H | 5308 | 180550 | Ring dermoid of cornea | 180550 | C1867155 | OMIM | 1 | | 166 | 9005 | 601542 |
HP:0000481 | HP:0001131 | Corneal dystrophy | 1 | PITX2 CL E G H | 5308 | 180550 | Ring dermoid of cornea | 180550 | C1867155 | OMIM | 1 | | 166 | 9005 | 601542 |
HP:0000481 | HP:0007957 | Corneal opacity | 1 | PITX2 CL E G H | 5308 | 180550 | Ring dermoid of cornea | 180550 | C1867155 | OMIM | 1 | | 166 | 9005 | 601542 |
HP:0000481 | HP:0011486 | Abnormality of corneal thickness | 1 | PITX2 CL E G H | 5308 | 180550 | Ring dermoid of cornea | 180550 | C1867155 | OMIM | 1 | | 166 | 9005 | 601542 |
HP:0000481 | HP:0008048 | Abnormality of the line of Schwalbe | 1 | PITX2 CL E G H | 5308 | 180550 | Ring dermoid of cornea | 180550 | C1867155 | OMIM | 1 | | 166 | 9005 | 601542 |
HP:0000481 | HP:0500008 | Cornea verticillata | 1 | PITX2 CL E G H | 5308 | 180550 | Ring dermoid of cornea | 180550 | C1867155 | OMIM | 1 | | 174 | 9005 | 601542 |
HP:0000481 | HP:0025348 | Abnormality of the corneal limbus | 1 | PITX2 CL E G H | 5308 | 180550 | Ring dermoid of cornea | 180550 | C1867155 | OMIM | 1 | | 174 | 9005 | 601542 |
HP:0000481 | HP:0011488 | Abnormal corneal endothelium morphology | 1 | PITX2 CL E G H | 5308 | 180550 | Ring dermoid of cornea | 180550 | C1867155 | OMIM | 1 | | 174 | 9005 | 601542 |
HP:0000481 | HP:0008000 | Decreased corneal reflex | 1 | PITX2 CL E G H | 5308 | 180550 | Ring dermoid of cornea | 180550 | C1867155 | OMIM | 1 | | 174 | 9005 | 601542 |
HP:0000481 | HP:0001120 | Abnormality of corneal size | 1 | PITX2 CL E G H | 5308 | 180550 | Ring dermoid of cornea | 180550 | C1867155 | OMIM | 1 | | 174 | 9005 | 601542 |
HP:0000481 | HP:0100691 | Abnormality of the curvature of the cornea | 1 | PITX2 CL E G H | 5308 | 180550 | Ring dermoid of cornea | 180550 | C1867155 | OMIM | 1 | | 174 | 9005 | 601542 |
HP:0000481 | HP:0011496 | Corneal neovascularization | 1 | PITX2 CL E G H | 5308 | 180550 | Ring dermoid of cornea | 180550 | C1867155 | OMIM | 1 | | 174 | 9005 | 601542 |
HP:0000481 | HP:0011492 | Abnormality of corneal stroma | 1 | PITX2 CL E G H | 5308 | 180550 | Ring dermoid of cornea | 180550 | C1867155 | OMIM | 1 | | 174 | 9005 | 601542 |
HP:0000481 | HP:0001140 | Limbal dermoid | 1 | PITX2 CL E G H | 5308 | 180550 | Ring dermoid of cornea | 180550 | C1867155 | OMIM | 1 | | 174 | 9005 | 601542 |
HP:0000481 | HP:0025348 | Abnormality of the corneal limbus | 1 | PITX2 CL E G H | 5308 | 180550 | Ring dermoid of cornea | 180550 | C1867155 | OMIM | 1 | | 166 | 9005 | 601542 |
HP:0000481 | HP:0011488 | Abnormal corneal endothelium morphology | 1 | PITX2 CL E G H | 5308 | 180550 | Ring dermoid of cornea | 180550 | C1867155 | OMIM | 1 | | 166 | 9005 | 601542 |
HP:0000481 | HP:0008000 | Decreased corneal reflex | 1 | PITX2 CL E G H | 5308 | 180550 | Ring dermoid of cornea | 180550 | C1867155 | OMIM | 1 | | 166 | 9005 | 601542 |
HP:0000481 | HP:0001120 | Abnormality of corneal size | 1 | PITX2 CL E G H | 5308 | 180550 | Ring dermoid of cornea | 180550 | C1867155 | OMIM | 1 | | 166 | 9005 | 601542 |
HP:0000481 | HP:0100691 | Abnormality of the curvature of the cornea | 1 | PITX2 CL E G H | 5308 | 180550 | Ring dermoid of cornea | 180550 | C1867155 | OMIM | 1 | | 166 | 9005 | 601542 |
HP:0000481 | HP:0011496 | Corneal neovascularization | 1 | PITX2 CL E G H | 5308 | 180550 | Ring dermoid of cornea | 180550 | C1867155 | OMIM | 1 | | 166 | 9005 | 601542 |
HP:0000481 | HP:0011492 | Abnormality of corneal stroma | 1 | PITX2 CL E G H | 5308 | 180550 | Ring dermoid of cornea | 180550 | C1867155 | OMIM | 1 | | 166 | 9005 | 601542 |
HP:0000481 | HP:0001140 | Limbal dermoid | 1 | PITX2 CL E G H | 5308 | 180550 | Ring dermoid of cornea | 180550 | C1867155 | OMIM | 1 | | 166 | 9005 | 601542 |
HP:0000481 | HP:0500008 | Cornea verticillata | 1 | PITX2 CL E G H | 5308 | 180550 | Ring dermoid of cornea | 180550 | C1867155 | OMIM | 1 | | 166 | 9005 | 601542 |
HP:0000481 | HP:0007705 | Corneal degeneration | 1 | RAB23 CL E G H | 51715 | 65759 | | | | ORPHA | 1 | | 158 | 14263 | 606144 |
HP:0000481 | HP:0040004 | Abnormality of corneal shape | 1 | RAB23 CL E G H | 51715 | 65759 | | | | ORPHA | 1 | | 158 | 14263 | 606144 |
HP:0000481 | HP:0012155 | Decreased corneal sensation | 1 | RAB23 CL E G H | 51715 | 65759 | | | | ORPHA | 1 | | 158 | 14263 | 606144 |
HP:0000481 | HP:0001131 | Corneal dystrophy | 1 | RAB23 CL E G H | 51715 | 65759 | | | | ORPHA | 1 | | 158 | 14263 | 606144 |
HP:0000481 | HP:0007957 | Corneal opacity | 1 | RAB23 CL E G H | 51715 | 65759 | | | | ORPHA | 1 | | 158 | 14263 | 606144 |
HP:0000481 | HP:0011486 | Abnormality of corneal thickness | 1 | RAB23 CL E G H | 51715 | 65759 | | | | ORPHA | 1 | | 158 | 14263 | 606144 |
HP:0000481 | HP:0008048 | Abnormality of the line of Schwalbe | 1 | RAB23 CL E G H | 51715 | 65759 | | | | ORPHA | 1 | | 158 | 14263 | 606144 |
HP:0000481 | HP:0100583 | Corneal perforation | 1 | RAB23 CL E G H | 51715 | 65759 | | | | ORPHA | 1 | | 158 | 14263 | 606144 |
HP:0000481 | HP:0011495 | Abnormal corneal epithelium morphology | 1 | RAB23 CL E G H | 51715 | 65759 | | | | ORPHA | 1 | | 152 | 14263 | 606144 |
HP:0000481 | HP:0040004 | Abnormality of corneal shape | 1 | RAB23 CL E G H | 51715 | 65759 | | | | ORPHA | 1 | | 152 | 14263 | 606144 |
HP:0000481 | HP:0012155 | Decreased corneal sensation | 1 | RAB23 CL E G H | 51715 | 65759 | | | | ORPHA | 1 | | 152 | 14263 | 606144 |
HP:0000481 | HP:0001131 | Corneal dystrophy | 1 | RAB23 CL E G H | 51715 | 65759 | | | | ORPHA | 1 | | 152 | 14263 | 606144 |
HP:0000481 | HP:0007957 | Corneal opacity | 1 | RAB23 CL E G H | 51715 | 65759 | | | | ORPHA | 1 | | 152 | 14263 | 606144 |
HP:0000481 | HP:0011486 | Abnormality of corneal thickness | 1 | RAB23 CL E G H | 51715 | 65759 | | | | ORPHA | 1 | | 152 | 14263 | 606144 |
HP:0000481 | HP:0008048 | Abnormality of the line of Schwalbe | 1 | RAB23 CL E G H | 51715 | 65759 | | | | ORPHA | 1 | | 152 | 14263 | 606144 |
HP:0000481 | HP:0100583 | Corneal perforation | 1 | RAB23 CL E G H | 51715 | 65759 | | | | ORPHA | 1 | | 152 | 14263 | 606144 |
HP:0000481 | HP:0007705 | Corneal degeneration | 1 | RAB23 CL E G H | 51715 | 65759 | | | | ORPHA | 1 | | 152 | 14263 | 606144 |
HP:0000481 | HP:0011488 | Abnormal corneal endothelium morphology | 1 | RAB23 CL E G H | 51715 | 65759 | | | | ORPHA | 1 | | 158 | 14263 | 606144 |
HP:0000481 | HP:0001140 | Limbal dermoid | 1 | RAB23 CL E G H | 51715 | 65759 | | | | ORPHA | 1 | | 158 | 14263 | 606144 |
HP:0000481 | HP:0008000 | Decreased corneal reflex | 1 | RAB23 CL E G H | 51715 | 65759 | | | | ORPHA | 1 | | 158 | 14263 | 606144 |
HP:0000481 | HP:0001120 | Abnormality of corneal size | 1 | RAB23 CL E G H | 51715 | 65759 | | | | ORPHA | 1 | | 158 | 14263 | 606144 |
HP:0000481 | HP:0100691 | Abnormality of the curvature of the cornea | 1 | RAB23 CL E G H | 51715 | 65759 | | | | ORPHA | 1 | | 158 | 14263 | 606144 |
HP:0000481 | HP:0011496 | Corneal neovascularization | 1 | RAB23 CL E G H | 51715 | 65759 | | | | ORPHA | 1 | | 158 | 14263 | 606144 |
HP:0000481 | HP:0011492 | Abnormality of corneal stroma | 1 | RAB23 CL E G H | 51715 | 65759 | | | | ORPHA | 1 | | 158 | 14263 | 606144 |
HP:0000481 | HP:0500008 | Cornea verticillata | 1 | RAB23 CL E G H | 51715 | 65759 | | | | ORPHA | 1 | | 158 | 14263 | 606144 |
HP:0000481 | HP:0025348 | Abnormality of the corneal limbus | 1 | RAB23 CL E G H | 51715 | 65759 | | | | ORPHA | 1 | | 158 | 14263 | 606144 |
HP:0000481 | HP:0011488 | Abnormal corneal endothelium morphology | 1 | RAB23 CL E G H | 51715 | 65759 | | | | ORPHA | 1 | | 152 | 14263 | 606144 |
HP:0000481 | HP:0001140 | Limbal dermoid | 1 | RAB23 CL E G H | 51715 | 65759 | | | | ORPHA | 1 | | 152 | 14263 | 606144 |
HP:0000481 | HP:0008000 | Decreased corneal reflex | 1 | RAB23 CL E G H | 51715 | 65759 | | | | ORPHA | 1 | | 152 | 14263 | 606144 |
HP:0000481 | HP:0001120 | Abnormality of corneal size | 1 | RAB23 CL E G H | 51715 | 65759 | | | | ORPHA | 1 | | 152 | 14263 | 606144 |
HP:0000481 | HP:0100691 | Abnormality of the curvature of the cornea | 1 | RAB23 CL E G H | 51715 | 65759 | | | | ORPHA | 1 | | 152 | 14263 | 606144 |
HP:0000481 | HP:0011496 | Corneal neovascularization | 1 | RAB23 CL E G H | 51715 | 65759 | | | | ORPHA | 1 | | 152 | 14263 | 606144 |
HP:0000481 | HP:0011492 | Abnormality of corneal stroma | 1 | RAB23 CL E G H | 51715 | 65759 | | | | ORPHA | 1 | | 152 | 14263 | 606144 |
HP:0000481 | HP:0500008 | Cornea verticillata | 1 | RAB23 CL E G H | 51715 | 65759 | | | | ORPHA | 1 | | 152 | 14263 | 606144 |
HP:0000481 | HP:0025348 | Abnormality of the corneal limbus | 1 | RAB23 CL E G H | 51715 | 65759 | | | | ORPHA | 1 | | 152 | 14263 | 606144 |
HP:0000481 | HP:0011495 | Abnormal corneal epithelium morphology | 1 | RAB23 CL E G H | 51715 | 65759 | | | | ORPHA | 1 | | 158 | 14263 | 606144 |
HP:0000481 | HP:0200020 | Corneal erosion | 2 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1071 | 2348 | 600140 |
HP:0000481 | HP:0200066 | Ribbonlike corneal degeneration | 2 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1071 | 2348 | 600140 |
HP:0000481 | HP:0010726 | Prominent corneal nerve fibers | 2 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1071 | 2348 | 600140 |
HP:0000481 | HP:0007709 | Band-shaped corneal dystrophy | 2 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1071 | 2348 | 600140 |
HP:0000481 | HP:0000485 | Megalocornea | 2 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1071 | 2348 | 600140 |
HP:0000481 | HP:0000559 | Corneal scarring | 2 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1071 | 2348 | 600140 |
HP:0000481 | HP:0100692 | Increased corneal curvature | 2 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1071 | 2348 | 600140 |
HP:0000481 | HP:0100689 | Decreased corneal thickness | 2 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1071 | 2348 | 600140 |
HP:0000481 | HP:0007802 | Granular corneal dystrophy | 2 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1071 | 2348 | 600140 |
HP:0000481 | HP:0007727 | Opacification of the corneal epithelium | 2 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1071 | 2348 | 600140 |
HP:0000481 | HP:0007873 | Abnormally prominent line of Schwalbe | 2 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1071 | 2348 | 600140 |
HP:0000481 | HP:0007880 | Marginal corneal dystrophy | 2 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1071 | 2348 | 600140 |
HP:0000481 | HP:0000647 | Sclerocornea | 2 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1071 | 2348 | 600140 |
HP:0000481 | HP:0011491 | Reduced number of corneal endothelial cells | 2 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1071 | 2348 | 600140 |
HP:0000481 | HP:0007809 | Punctate corneal dystrophy | 2 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1071 | 2348 | 600140 |
HP:0000481 | HP:0010726 | Prominent corneal nerve fibers | 2 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1012 | 2348 | 600140 |
HP:0000481 | HP:0007709 | Band-shaped corneal dystrophy | 2 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1012 | 2348 | 600140 |
HP:0000481 | HP:0000485 | Megalocornea | 2 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1012 | 2348 | 600140 |
HP:0000481 | HP:0000559 | Corneal scarring | 2 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1012 | 2348 | 600140 |
HP:0000481 | HP:0100692 | Increased corneal curvature | 2 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1012 | 2348 | 600140 |
HP:0000481 | HP:0100689 | Decreased corneal thickness | 2 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1012 | 2348 | 600140 |
HP:0000481 | HP:0007802 | Granular corneal dystrophy | 2 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1012 | 2348 | 600140 |
HP:0000481 | HP:0007727 | Opacification of the corneal epithelium | 2 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1012 | 2348 | 600140 |
HP:0000481 | HP:0007873 | Abnormally prominent line of Schwalbe | 2 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1012 | 2348 | 600140 |
HP:0000481 | HP:0007880 | Marginal corneal dystrophy | 2 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1012 | 2348 | 600140 |
HP:0000481 | HP:0000647 | Sclerocornea | 2 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1012 | 2348 | 600140 |
HP:0000481 | HP:0011491 | Reduced number of corneal endothelial cells | 2 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1012 | 2348 | 600140 |
HP:0000481 | HP:0007809 | Punctate corneal dystrophy | 2 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1012 | 2348 | 600140 |
HP:0000481 | HP:0200020 | Corneal erosion | 2 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1012 | 2348 | 600140 |
HP:0000481 | HP:0200066 | Ribbonlike corneal degeneration | 2 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1012 | 2348 | 600140 |
HP:0000481 | HP:0011490 | Abnormal Descemet membrane morphology | 2 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1071 | 2348 | 600140 |
HP:0000481 | HP:0009915 | Corneal asymmetry | 2 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1071 | 2348 | 600140 |
HP:0000481 | HP:0000483 | Astigmatism | 2 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1071 | 2348 | 600140 |
HP:0000481 | HP:0007720 | Flat cornea | 2 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1071 | 2348 | 600140 |
HP:0000481 | HP:0008005 | Congenital corneal dystrophy | 2 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1071 | 2348 | 600140 |
HP:0000481 | HP:0000482 | Microcornea | 2 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1071 | 2348 | 600140 |
HP:0000481 | HP:0200032 | Kayser-Fleischer ring | 2 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1071 | 2348 | 600140 |
HP:0000481 | HP:0011489 | Abnormal migration of corneal endothelium | 2 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1071 | 2348 | 600140 |
HP:0000481 | HP:0012804 | Corneal ulceration | 2 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1071 | 2348 | 600140 |
HP:0000481 | HP:0001149 | Lattice corneal dystrophy | 2 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1071 | 2348 | 600140 |
HP:0000481 | HP:0007759 | Opacification of the corneal stroma | 2 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1071 | 2348 | 600140 |
HP:0000481 | HP:0025341 | Corneal keratic precipitates | 2 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1071 | 2348 | 600140 |
HP:0000481 | HP:0000627 | Posterior embryotoxon | 2 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1071 | 2348 | 600140 |
HP:0000481 | HP:0000491 | Keratitis | 2 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1071 | 2348 | 600140 |
HP:0000481 | HP:0011487 | Increased corneal thickness | 2 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1071 | 2348 | 600140 |
HP:0000481 | HP:0007836 | Mosaic corneal dystrophy | 2 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1071 | 2348 | 600140 |
HP:0000481 | HP:0012040 | Corneal stromal edema | 2 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1071 | 2348 | 600140 |
HP:0000481 | HP:0025349 | Limbal edema | 2 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1071 | 2348 | 600140 |
HP:0000481 | HP:0007962 | Speckled corneal dystrophy | 2 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1071 | 2348 | 600140 |
HP:0000481 | HP:0009915 | Corneal asymmetry | 2 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1012 | 2348 | 600140 |
HP:0000481 | HP:0000483 | Astigmatism | 2 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1012 | 2348 | 600140 |
HP:0000481 | HP:0007720 | Flat cornea | 2 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1012 | 2348 | 600140 |
HP:0000481 | HP:0008005 | Congenital corneal dystrophy | 2 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1012 | 2348 | 600140 |
HP:0000481 | HP:0000482 | Microcornea | 2 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1012 | 2348 | 600140 |
HP:0000481 | HP:0200032 | Kayser-Fleischer ring | 2 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1012 | 2348 | 600140 |
HP:0000481 | HP:0011489 | Abnormal migration of corneal endothelium | 2 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1012 | 2348 | 600140 |
HP:0000481 | HP:0012804 | Corneal ulceration | 2 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1012 | 2348 | 600140 |
HP:0000481 | HP:0001149 | Lattice corneal dystrophy | 2 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1012 | 2348 | 600140 |
HP:0000481 | HP:0007759 | Opacification of the corneal stroma | 2 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1012 | 2348 | 600140 |
HP:0000481 | HP:0025341 | Corneal keratic precipitates | 2 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1012 | 2348 | 600140 |
HP:0000481 | HP:0000627 | Posterior embryotoxon | 2 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1012 | 2348 | 600140 |
HP:0000481 | HP:0000491 | Keratitis | 2 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1012 | 2348 | 600140 |
HP:0000481 | HP:0011487 | Increased corneal thickness | 2 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1012 | 2348 | 600140 |
HP:0000481 | HP:0007836 | Mosaic corneal dystrophy | 2 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1012 | 2348 | 600140 |
HP:0000481 | HP:0012040 | Corneal stromal edema | 2 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1012 | 2348 | 600140 |
HP:0000481 | HP:0025349 | Limbal edema | 2 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1012 | 2348 | 600140 |
HP:0000481 | HP:0007962 | Speckled corneal dystrophy | 2 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1012 | 2348 | 600140 |
HP:0000481 | HP:0011490 | Abnormal Descemet membrane morphology | 2 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1012 | 2348 | 600140 |
HP:0000481 | HP:0012804 | Corneal ulceration | 2 | DNAI1 CL E G H | 27019 | 244400 | Kartagener syndrome | 244400 | C0022521 | OMIM | 1 | | 442 | 2954 | 604366 |
HP:0000481 | HP:0001149 | Lattice corneal dystrophy | 2 | DNAI1 CL E G H | 27019 | 244400 | Kartagener syndrome | 244400 | C0022521 | OMIM | 1 | | 442 | 2954 | 604366 |
HP:0000481 | HP:0007759 | Opacification of the corneal stroma | 2 | DNAI1 CL E G H | 27019 | 244400 | Kartagener syndrome | 244400 | C0022521 | OMIM | 1 | | 442 | 2954 | 604366 |
HP:0000481 | HP:0025341 | Corneal keratic precipitates | 2 | DNAI1 CL E G H | 27019 | 244400 | Kartagener syndrome | 244400 | C0022521 | OMIM | 1 | | 442 | 2954 | 604366 |
HP:0000481 | HP:0000627 | Posterior embryotoxon | 2 | DNAI1 CL E G H | 27019 | 244400 | Kartagener syndrome | 244400 | C0022521 | OMIM | 1 | | 442 | 2954 | 604366 |
HP:0000481 | HP:0000491 | Keratitis | 2 | DNAI1 CL E G H | 27019 | 244400 | Kartagener syndrome | 244400 | C0022521 | OMIM | 1 | | 442 | 2954 | 604366 |
HP:0000481 | HP:0011487 | Increased corneal thickness | 2 | DNAI1 CL E G H | 27019 | 244400 | Kartagener syndrome | 244400 | C0022521 | OMIM | 1 | | 442 | 2954 | 604366 |
HP:0000481 | HP:0007836 | Mosaic corneal dystrophy | 2 | DNAI1 CL E G H | 27019 | 244400 | Kartagener syndrome | 244400 | C0022521 | OMIM | 1 | | 442 | 2954 | 604366 |
HP:0000481 | HP:0012040 | Corneal stromal edema | 2 | DNAI1 CL E G H | 27019 | 244400 | Kartagener syndrome | 244400 | C0022521 | OMIM | 1 | | 442 | 2954 | 604366 |
HP:0000481 | HP:0025349 | Limbal edema | 2 | DNAI1 CL E G H | 27019 | 244400 | Kartagener syndrome | 244400 | C0022521 | OMIM | 1 | | 442 | 2954 | 604366 |
HP:0000481 | HP:0007962 | Speckled corneal dystrophy | 2 | DNAI1 CL E G H | 27019 | 244400 | Kartagener syndrome | 244400 | C0022521 | OMIM | 1 | | 442 | 2954 | 604366 |
HP:0000481 | HP:0011490 | Abnormal Descemet membrane morphology | 2 | DNAI1 CL E G H | 27019 | 244400 | Kartagener syndrome | 244400 | C0022521 | OMIM | 1 | | 442 | 2954 | 604366 |
HP:0000481 | HP:0009915 | Corneal asymmetry | 2 | DNAI1 CL E G H | 27019 | 244400 | Kartagener syndrome | 244400 | C0022521 | OMIM | 1 | | 442 | 2954 | 604366 |
HP:0000481 | HP:0000483 | Astigmatism | 2 | DNAI1 CL E G H | 27019 | 244400 | Kartagener syndrome | 244400 | C0022521 | OMIM | 1 | | 442 | 2954 | 604366 |
HP:0000481 | HP:0007720 | Flat cornea | 2 | DNAI1 CL E G H | 27019 | 244400 | Kartagener syndrome | 244400 | C0022521 | OMIM | 1 | | 442 | 2954 | 604366 |
HP:0000481 | HP:0008005 | Congenital corneal dystrophy | 2 | DNAI1 CL E G H | 27019 | 244400 | Kartagener syndrome | 244400 | C0022521 | OMIM | 1 | | 442 | 2954 | 604366 |
HP:0000481 | HP:0000482 | Microcornea | 2 | DNAI1 CL E G H | 27019 | 244400 | Kartagener syndrome | 244400 | C0022521 | OMIM | 1 | | 442 | 2954 | 604366 |
HP:0000481 | HP:0200032 | Kayser-Fleischer ring | 2 | DNAI1 CL E G H | 27019 | 244400 | Kartagener syndrome | 244400 | C0022521 | OMIM | 1 | | 442 | 2954 | 604366 |
HP:0000481 | HP:0011489 | Abnormal migration of corneal endothelium | 2 | DNAI1 CL E G H | 27019 | 244400 | Kartagener syndrome | 244400 | C0022521 | OMIM | 1 | | 442 | 2954 | 604366 |
HP:0000481 | HP:0100689 | Decreased corneal thickness | 2 | DNAI1 CL E G H | 27019 | 244400 | Kartagener syndrome | 244400 | C0022521 | OMIM | 1 | | 482 | 2954 | 604366 |
HP:0000481 | HP:0007802 | Granular corneal dystrophy | 2 | DNAI1 CL E G H | 27019 | 244400 | Kartagener syndrome | 244400 | C0022521 | OMIM | 1 | | 482 | 2954 | 604366 |
HP:0000481 | HP:0007727 | Opacification of the corneal epithelium | 2 | DNAI1 CL E G H | 27019 | 244400 | Kartagener syndrome | 244400 | C0022521 | OMIM | 1 | | 482 | 2954 | 604366 |
HP:0000481 | HP:0007873 | Abnormally prominent line of Schwalbe | 2 | DNAI1 CL E G H | 27019 | 244400 | Kartagener syndrome | 244400 | C0022521 | OMIM | 1 | | 482 | 2954 | 604366 |
HP:0000481 | HP:0007880 | Marginal corneal dystrophy | 2 | DNAI1 CL E G H | 27019 | 244400 | Kartagener syndrome | 244400 | C0022521 | OMIM | 1 | | 482 | 2954 | 604366 |
HP:0000481 | HP:0000647 | Sclerocornea | 2 | DNAI1 CL E G H | 27019 | 244400 | Kartagener syndrome | 244400 | C0022521 | OMIM | 1 | | 482 | 2954 | 604366 |
HP:0000481 | HP:0011491 | Reduced number of corneal endothelial cells | 2 | DNAI1 CL E G H | 27019 | 244400 | Kartagener syndrome | 244400 | C0022521 | OMIM | 1 | | 482 | 2954 | 604366 |
HP:0000481 | HP:0007809 | Punctate corneal dystrophy | 2 | DNAI1 CL E G H | 27019 | 244400 | Kartagener syndrome | 244400 | C0022521 | OMIM | 1 | | 482 | 2954 | 604366 |
HP:0000481 | HP:0200020 | Corneal erosion | 2 | DNAI1 CL E G H | 27019 | 244400 | Kartagener syndrome | 244400 | C0022521 | OMIM | 1 | | 482 | 2954 | 604366 |
HP:0000481 | HP:0200066 | Ribbonlike corneal degeneration | 2 | DNAI1 CL E G H | 27019 | 244400 | Kartagener syndrome | 244400 | C0022521 | OMIM | 1 | | 482 | 2954 | 604366 |
HP:0000481 | HP:0010726 | Prominent corneal nerve fibers | 2 | DNAI1 CL E G H | 27019 | 244400 | Kartagener syndrome | 244400 | C0022521 | OMIM | 1 | | 482 | 2954 | 604366 |
HP:0000481 | HP:0007709 | Band-shaped corneal dystrophy | 2 | DNAI1 CL E G H | 27019 | 244400 | Kartagener syndrome | 244400 | C0022521 | OMIM | 1 | | 482 | 2954 | 604366 |
HP:0000481 | HP:0000485 | Megalocornea | 2 | DNAI1 CL E G H | 27019 | 244400 | Kartagener syndrome | 244400 | C0022521 | OMIM | 1 | | 482 | 2954 | 604366 |
HP:0000481 | HP:0000559 | Corneal scarring | 2 | DNAI1 CL E G H | 27019 | 244400 | Kartagener syndrome | 244400 | C0022521 | OMIM | 1 | | 482 | 2954 | 604366 |
HP:0000481 | HP:0100692 | Increased corneal curvature | 2 | DNAI1 CL E G H | 27019 | 244400 | Kartagener syndrome | 244400 | C0022521 | OMIM | 1 | | 482 | 2954 | 604366 |
HP:0000481 | HP:0007727 | Opacification of the corneal epithelium | 2 | DNAI1 CL E G H | 27019 | 244400 | Kartagener syndrome | 244400 | C0022521 | OMIM | 1 | | 442 | 2954 | 604366 |
HP:0000481 | HP:0007873 | Abnormally prominent line of Schwalbe | 2 | DNAI1 CL E G H | 27019 | 244400 | Kartagener syndrome | 244400 | C0022521 | OMIM | 1 | | 442 | 2954 | 604366 |
HP:0000481 | HP:0007880 | Marginal corneal dystrophy | 2 | DNAI1 CL E G H | 27019 | 244400 | Kartagener syndrome | 244400 | C0022521 | OMIM | 1 | | 442 | 2954 | 604366 |
HP:0000481 | HP:0000647 | Sclerocornea | 2 | DNAI1 CL E G H | 27019 | 244400 | Kartagener syndrome | 244400 | C0022521 | OMIM | 1 | | 442 | 2954 | 604366 |
HP:0000481 | HP:0011491 | Reduced number of corneal endothelial cells | 2 | DNAI1 CL E G H | 27019 | 244400 | Kartagener syndrome | 244400 | C0022521 | OMIM | 1 | | 442 | 2954 | 604366 |
HP:0000481 | HP:0007809 | Punctate corneal dystrophy | 2 | DNAI1 CL E G H | 27019 | 244400 | Kartagener syndrome | 244400 | C0022521 | OMIM | 1 | | 442 | 2954 | 604366 |
HP:0000481 | HP:0200020 | Corneal erosion | 2 | DNAI1 CL E G H | 27019 | 244400 | Kartagener syndrome | 244400 | C0022521 | OMIM | 1 | | 442 | 2954 | 604366 |
HP:0000481 | HP:0200066 | Ribbonlike corneal degeneration | 2 | DNAI1 CL E G H | 27019 | 244400 | Kartagener syndrome | 244400 | C0022521 | OMIM | 1 | | 442 | 2954 | 604366 |
HP:0000481 | HP:0010726 | Prominent corneal nerve fibers | 2 | DNAI1 CL E G H | 27019 | 244400 | Kartagener syndrome | 244400 | C0022521 | OMIM | 1 | | 442 | 2954 | 604366 |
HP:0000481 | HP:0007709 | Band-shaped corneal dystrophy | 2 | DNAI1 CL E G H | 27019 | 244400 | Kartagener syndrome | 244400 | C0022521 | OMIM | 1 | | 442 | 2954 | 604366 |
HP:0000481 | HP:0000485 | Megalocornea | 2 | DNAI1 CL E G H | 27019 | 244400 | Kartagener syndrome | 244400 | C0022521 | OMIM | 1 | | 442 | 2954 | 604366 |
HP:0000481 | HP:0000559 | Corneal scarring | 2 | DNAI1 CL E G H | 27019 | 244400 | Kartagener syndrome | 244400 | C0022521 | OMIM | 1 | | 442 | 2954 | 604366 |
HP:0000481 | HP:0100692 | Increased corneal curvature | 2 | DNAI1 CL E G H | 27019 | 244400 | Kartagener syndrome | 244400 | C0022521 | OMIM | 1 | | 442 | 2954 | 604366 |
HP:0000481 | HP:0100689 | Decreased corneal thickness | 2 | DNAI1 CL E G H | 27019 | 244400 | Kartagener syndrome | 244400 | C0022521 | OMIM | 1 | | 442 | 2954 | 604366 |
HP:0000481 | HP:0007802 | Granular corneal dystrophy | 2 | DNAI1 CL E G H | 27019 | 244400 | Kartagener syndrome | 244400 | C0022521 | OMIM | 1 | | 442 | 2954 | 604366 |
HP:0000481 | HP:0011489 | Abnormal migration of corneal endothelium | 2 | DNAI1 CL E G H | 27019 | 244400 | Kartagener syndrome | 244400 | C0022521 | OMIM | 1 | | 482 | 2954 | 604366 |
HP:0000481 | HP:0012804 | Corneal ulceration | 2 | DNAI1 CL E G H | 27019 | 244400 | Kartagener syndrome | 244400 | C0022521 | OMIM | 1 | | 482 | 2954 | 604366 |
HP:0000481 | HP:0001149 | Lattice corneal dystrophy | 2 | DNAI1 CL E G H | 27019 | 244400 | Kartagener syndrome | 244400 | C0022521 | OMIM | 1 | | 482 | 2954 | 604366 |
HP:0000481 | HP:0007759 | Opacification of the corneal stroma | 2 | DNAI1 CL E G H | 27019 | 244400 | Kartagener syndrome | 244400 | C0022521 | OMIM | 1 | | 482 | 2954 | 604366 |
HP:0000481 | HP:0025341 | Corneal keratic precipitates | 2 | DNAI1 CL E G H | 27019 | 244400 | Kartagener syndrome | 244400 | C0022521 | OMIM | 1 | | 482 | 2954 | 604366 |
HP:0000481 | HP:0000627 | Posterior embryotoxon | 2 | DNAI1 CL E G H | 27019 | 244400 | Kartagener syndrome | 244400 | C0022521 | OMIM | 1 | | 482 | 2954 | 604366 |
HP:0000481 | HP:0000491 | Keratitis | 2 | DNAI1 CL E G H | 27019 | 244400 | Kartagener syndrome | 244400 | C0022521 | OMIM | 1 | | 482 | 2954 | 604366 |
HP:0000481 | HP:0011487 | Increased corneal thickness | 2 | DNAI1 CL E G H | 27019 | 244400 | Kartagener syndrome | 244400 | C0022521 | OMIM | 1 | | 482 | 2954 | 604366 |
HP:0000481 | HP:0007836 | Mosaic corneal dystrophy | 2 | DNAI1 CL E G H | 27019 | 244400 | Kartagener syndrome | 244400 | C0022521 | OMIM | 1 | | 482 | 2954 | 604366 |
HP:0000481 | HP:0012040 | Corneal stromal edema | 2 | DNAI1 CL E G H | 27019 | 244400 | Kartagener syndrome | 244400 | C0022521 | OMIM | 1 | | 482 | 2954 | 604366 |
HP:0000481 | HP:0025349 | Limbal edema | 2 | DNAI1 CL E G H | 27019 | 244400 | Kartagener syndrome | 244400 | C0022521 | OMIM | 1 | | 482 | 2954 | 604366 |
HP:0000481 | HP:0007962 | Speckled corneal dystrophy | 2 | DNAI1 CL E G H | 27019 | 244400 | Kartagener syndrome | 244400 | C0022521 | OMIM | 1 | | 482 | 2954 | 604366 |
HP:0000481 | HP:0011490 | Abnormal Descemet membrane morphology | 2 | DNAI1 CL E G H | 27019 | 244400 | Kartagener syndrome | 244400 | C0022521 | OMIM | 1 | | 482 | 2954 | 604366 |
HP:0000481 | HP:0009915 | Corneal asymmetry | 2 | DNAI1 CL E G H | 27019 | 244400 | Kartagener syndrome | 244400 | C0022521 | OMIM | 1 | | 482 | 2954 | 604366 |
HP:0000481 | HP:0000483 | Astigmatism | 2 | DNAI1 CL E G H | 27019 | 244400 | Kartagener syndrome | 244400 | C0022521 | OMIM | 1 | | 482 | 2954 | 604366 |
HP:0000481 | HP:0007720 | Flat cornea | 2 | DNAI1 CL E G H | 27019 | 244400 | Kartagener syndrome | 244400 | C0022521 | OMIM | 1 | | 482 | 2954 | 604366 |
HP:0000481 | HP:0008005 | Congenital corneal dystrophy | 2 | DNAI1 CL E G H | 27019 | 244400 | Kartagener syndrome | 244400 | C0022521 | OMIM | 1 | | 482 | 2954 | 604366 |
HP:0000481 | HP:0000482 | Microcornea | 2 | DNAI1 CL E G H | 27019 | 244400 | Kartagener syndrome | 244400 | C0022521 | OMIM | 1 | | 482 | 2954 | 604366 |
HP:0000481 | HP:0200032 | Kayser-Fleischer ring | 2 | DNAI1 CL E G H | 27019 | 244400 | Kartagener syndrome | 244400 | C0022521 | OMIM | 1 | | 482 | 2954 | 604366 |
HP:0000481 | HP:0000559 | Corneal scarring | 2 | EP300 CL E G H | 2033 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 678 | 3373 | 602700 |
HP:0000481 | HP:0100692 | Increased corneal curvature | 2 | EP300 CL E G H | 2033 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 678 | 3373 | 602700 |
HP:0000481 | HP:0007802 | Granular corneal dystrophy | 2 | EP300 CL E G H | 2033 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 678 | 3373 | 602700 |
HP:0000481 | HP:0007727 | Opacification of the corneal epithelium | 2 | EP300 CL E G H | 2033 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 678 | 3373 | 602700 |
HP:0000481 | HP:0007873 | Abnormally prominent line of Schwalbe | 2 | EP300 CL E G H | 2033 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 678 | 3373 | 602700 |
HP:0000481 | HP:0007880 | Marginal corneal dystrophy | 2 | EP300 CL E G H | 2033 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 678 | 3373 | 602700 |
HP:0000481 | HP:0000647 | Sclerocornea | 2 | EP300 CL E G H | 2033 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 678 | 3373 | 602700 |
HP:0000481 | HP:0007809 | Punctate corneal dystrophy | 2 | EP300 CL E G H | 2033 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 678 | 3373 | 602700 |
HP:0000481 | HP:0200066 | Ribbonlike corneal degeneration | 2 | EP300 CL E G H | 2033 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 678 | 3373 | 602700 |
HP:0000481 | HP:0007709 | Band-shaped corneal dystrophy | 2 | EP300 CL E G H | 2033 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 678 | 3373 | 602700 |
HP:0000481 | HP:0000482 | Microcornea | 2 | EP300 CL E G H | 2033 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 731 | 3373 | 602700 |
HP:0000481 | HP:0011489 | Abnormal migration of corneal endothelium | 2 | EP300 CL E G H | 2033 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 731 | 3373 | 602700 |
HP:0000481 | HP:0012804 | Corneal ulceration | 2 | EP300 CL E G H | 2033 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 731 | 3373 | 602700 |
HP:0000481 | HP:0007759 | Opacification of the corneal stroma | 2 | EP300 CL E G H | 2033 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 731 | 3373 | 602700 |
HP:0000481 | HP:0025341 | Corneal keratic precipitates | 2 | EP300 CL E G H | 2033 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 731 | 3373 | 602700 |
HP:0000481 | HP:0000491 | Keratitis | 2 | EP300 CL E G H | 2033 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 731 | 3373 | 602700 |
HP:0000481 | HP:0011487 | Increased corneal thickness | 2 | EP300 CL E G H | 2033 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 731 | 3373 | 602700 |
HP:0000481 | HP:0012040 | Corneal stromal edema | 2 | EP300 CL E G H | 2033 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 731 | 3373 | 602700 |
HP:0000481 | HP:0025349 | Limbal edema | 2 | EP300 CL E G H | 2033 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 731 | 3373 | 602700 |
HP:0000481 | HP:0011490 | Abnormal Descemet membrane morphology | 2 | EP300 CL E G H | 2033 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 731 | 3373 | 602700 |
HP:0000481 | HP:0009915 | Corneal asymmetry | 2 | EP300 CL E G H | 2033 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 731 | 3373 | 602700 |
HP:0000481 | HP:0000483 | Astigmatism | 2 | EP300 CL E G H | 2033 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 731 | 3373 | 602700 |
HP:0000481 | HP:0007720 | Flat cornea | 2 | EP300 CL E G H | 2033 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 731 | 3373 | 602700 |
HP:0000481 | HP:0008005 | Congenital corneal dystrophy | 2 | EP300 CL E G H | 2033 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 731 | 3373 | 602700 |
HP:0000481 | HP:0200032 | Kayser-Fleischer ring | 2 | EP300 CL E G H | 2033 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 731 | 3373 | 602700 |
HP:0000481 | HP:0001149 | Lattice corneal dystrophy | 2 | EP300 CL E G H | 2033 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 731 | 3373 | 602700 |
HP:0000481 | HP:0000627 | Posterior embryotoxon | 2 | EP300 CL E G H | 2033 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 731 | 3373 | 602700 |
HP:0000481 | HP:0007836 | Mosaic corneal dystrophy | 2 | EP300 CL E G H | 2033 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 731 | 3373 | 602700 |
HP:0000481 | HP:0007962 | Speckled corneal dystrophy | 2 | EP300 CL E G H | 2033 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 731 | 3373 | 602700 |
HP:0000481 | HP:0000482 | Microcornea | 2 | EP300 CL E G H | 2033 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 678 | 3373 | 602700 |
HP:0000481 | HP:0011489 | Abnormal migration of corneal endothelium | 2 | EP300 CL E G H | 2033 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 678 | 3373 | 602700 |
HP:0000481 | HP:0012804 | Corneal ulceration | 2 | EP300 CL E G H | 2033 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 678 | 3373 | 602700 |
HP:0000481 | HP:0007759 | Opacification of the corneal stroma | 2 | EP300 CL E G H | 2033 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 678 | 3373 | 602700 |
HP:0000481 | HP:0025341 | Corneal keratic precipitates | 2 | EP300 CL E G H | 2033 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 678 | 3373 | 602700 |
HP:0000481 | HP:0000491 | Keratitis | 2 | EP300 CL E G H | 2033 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 678 | 3373 | 602700 |
HP:0000481 | HP:0011487 | Increased corneal thickness | 2 | EP300 CL E G H | 2033 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 678 | 3373 | 602700 |
HP:0000481 | HP:0012040 | Corneal stromal edema | 2 | EP300 CL E G H | 2033 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 678 | 3373 | 602700 |
HP:0000481 | HP:0025349 | Limbal edema | 2 | EP300 CL E G H | 2033 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 678 | 3373 | 602700 |
HP:0000481 | HP:0011490 | Abnormal Descemet membrane morphology | 2 | EP300 CL E G H | 2033 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 678 | 3373 | 602700 |
HP:0000481 | HP:0009915 | Corneal asymmetry | 2 | EP300 CL E G H | 2033 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 678 | 3373 | 602700 |
HP:0000481 | HP:0000483 | Astigmatism | 2 | EP300 CL E G H | 2033 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 678 | 3373 | 602700 |
HP:0000481 | HP:0007720 | Flat cornea | 2 | EP300 CL E G H | 2033 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 678 | 3373 | 602700 |
HP:0000481 | HP:0008005 | Congenital corneal dystrophy | 2 | EP300 CL E G H | 2033 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 678 | 3373 | 602700 |
HP:0000481 | HP:0200032 | Kayser-Fleischer ring | 2 | EP300 CL E G H | 2033 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 678 | 3373 | 602700 |
HP:0000481 | HP:0001149 | Lattice corneal dystrophy | 2 | EP300 CL E G H | 2033 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 678 | 3373 | 602700 |
HP:0000481 | HP:0000627 | Posterior embryotoxon | 2 | EP300 CL E G H | 2033 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 678 | 3373 | 602700 |
HP:0000481 | HP:0007836 | Mosaic corneal dystrophy | 2 | EP300 CL E G H | 2033 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 678 | 3373 | 602700 |
HP:0000481 | HP:0007962 | Speckled corneal dystrophy | 2 | EP300 CL E G H | 2033 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 678 | 3373 | 602700 |
HP:0000481 | HP:0010726 | Prominent corneal nerve fibers | 2 | EP300 CL E G H | 2033 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 731 | 3373 | 602700 |
HP:0000481 | HP:0000485 | Megalocornea | 2 | EP300 CL E G H | 2033 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 731 | 3373 | 602700 |
HP:0000481 | HP:0100689 | Decreased corneal thickness | 2 | EP300 CL E G H | 2033 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 731 | 3373 | 602700 |
HP:0000481 | HP:0011491 | Reduced number of corneal endothelial cells | 2 | EP300 CL E G H | 2033 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 731 | 3373 | 602700 |
HP:0000481 | HP:0200020 | Corneal erosion | 2 | EP300 CL E G H | 2033 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 731 | 3373 | 602700 |
HP:0000481 | HP:0007709 | Band-shaped corneal dystrophy | 2 | EP300 CL E G H | 2033 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 731 | 3373 | 602700 |
HP:0000481 | HP:0000559 | Corneal scarring | 2 | EP300 CL E G H | 2033 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 731 | 3373 | 602700 |
HP:0000481 | HP:0100692 | Increased corneal curvature | 2 | EP300 CL E G H | 2033 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 731 | 3373 | 602700 |
HP:0000481 | HP:0007802 | Granular corneal dystrophy | 2 | EP300 CL E G H | 2033 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 731 | 3373 | 602700 |
HP:0000481 | HP:0007727 | Opacification of the corneal epithelium | 2 | EP300 CL E G H | 2033 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 731 | 3373 | 602700 |
HP:0000481 | HP:0007873 | Abnormally prominent line of Schwalbe | 2 | EP300 CL E G H | 2033 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 731 | 3373 | 602700 |
HP:0000481 | HP:0007880 | Marginal corneal dystrophy | 2 | EP300 CL E G H | 2033 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 731 | 3373 | 602700 |
HP:0000481 | HP:0000647 | Sclerocornea | 2 | EP300 CL E G H | 2033 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 731 | 3373 | 602700 |
HP:0000481 | HP:0007809 | Punctate corneal dystrophy | 2 | EP300 CL E G H | 2033 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 731 | 3373 | 602700 |
HP:0000481 | HP:0200066 | Ribbonlike corneal degeneration | 2 | EP300 CL E G H | 2033 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 731 | 3373 | 602700 |
HP:0000481 | HP:0000485 | Megalocornea | 2 | EP300 CL E G H | 2033 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 678 | 3373 | 602700 |
HP:0000481 | HP:0100689 | Decreased corneal thickness | 2 | EP300 CL E G H | 2033 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 678 | 3373 | 602700 |
HP:0000481 | HP:0011491 | Reduced number of corneal endothelial cells | 2 | EP300 CL E G H | 2033 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 678 | 3373 | 602700 |
HP:0000481 | HP:0200020 | Corneal erosion | 2 | EP300 CL E G H | 2033 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 678 | 3373 | 602700 |
HP:0000481 | HP:0010726 | Prominent corneal nerve fibers | 2 | EP300 CL E G H | 2033 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 678 | 3373 | 602700 |
HP:0000481 | HP:0000647 | Sclerocornea | 2 | MEGF8 CL E G H | 1954 | 65759 | | | | ORPHA | 1 | | 355 | 3233 | 604267 |
HP:0000481 | HP:0011491 | Reduced number of corneal endothelial cells | 2 | MEGF8 CL E G H | 1954 | 65759 | | | | ORPHA | 1 | | 355 | 3233 | 604267 |
HP:0000481 | HP:0007809 | Punctate corneal dystrophy | 2 | MEGF8 CL E G H | 1954 | 65759 | | | | ORPHA | 1 | | 355 | 3233 | 604267 |
HP:0000481 | HP:0200020 | Corneal erosion | 2 | MEGF8 CL E G H | 1954 | 65759 | | | | ORPHA | 1 | | 355 | 3233 | 604267 |
HP:0000481 | HP:0200066 | Ribbonlike corneal degeneration | 2 | MEGF8 CL E G H | 1954 | 65759 | | | | ORPHA | 1 | | 355 | 3233 | 604267 |
HP:0000481 | HP:0010726 | Prominent corneal nerve fibers | 2 | MEGF8 CL E G H | 1954 | 65759 | | | | ORPHA | 1 | | 355 | 3233 | 604267 |
HP:0000481 | HP:0007709 | Band-shaped corneal dystrophy | 2 | MEGF8 CL E G H | 1954 | 65759 | | | | ORPHA | 1 | | 355 | 3233 | 604267 |
HP:0000481 | HP:0000485 | Megalocornea | 2 | MEGF8 CL E G H | 1954 | 65759 | | | | ORPHA | 1 | | 355 | 3233 | 604267 |
HP:0000481 | HP:0000559 | Corneal scarring | 2 | MEGF8 CL E G H | 1954 | 65759 | | | | ORPHA | 1 | | 355 | 3233 | 604267 |
HP:0000481 | HP:0100692 | Increased corneal curvature | 2 | MEGF8 CL E G H | 1954 | 65759 | | | | ORPHA | 1 | | 355 | 3233 | 604267 |
HP:0000481 | HP:0100689 | Decreased corneal thickness | 2 | MEGF8 CL E G H | 1954 | 65759 | | | | ORPHA | 1 | | 355 | 3233 | 604267 |
HP:0000481 | HP:0007802 | Granular corneal dystrophy | 2 | MEGF8 CL E G H | 1954 | 65759 | | | | ORPHA | 1 | | 355 | 3233 | 604267 |
HP:0000481 | HP:0007727 | Opacification of the corneal epithelium | 2 | MEGF8 CL E G H | 1954 | 65759 | | | | ORPHA | 1 | | 355 | 3233 | 604267 |
HP:0000481 | HP:0007873 | Abnormally prominent line of Schwalbe | 2 | MEGF8 CL E G H | 1954 | 65759 | | | | ORPHA | 1 | | 355 | 3233 | 604267 |
HP:0000481 | HP:0007880 | Marginal corneal dystrophy | 2 | MEGF8 CL E G H | 1954 | 65759 | | | | ORPHA | 1 | | 355 | 3233 | 604267 |
HP:0000481 | HP:0025341 | Corneal keratic precipitates | 2 | MEGF8 CL E G H | 1954 | 65759 | | | | ORPHA | 1 | | 421 | 3233 | 604267 |
HP:0000481 | HP:0000627 | Posterior embryotoxon | 2 | MEGF8 CL E G H | 1954 | 65759 | | | | ORPHA | 1 | | 421 | 3233 | 604267 |
HP:0000481 | HP:0000491 | Keratitis | 2 | MEGF8 CL E G H | 1954 | 65759 | | | | ORPHA | 1 | | 421 | 3233 | 604267 |
HP:0000481 | HP:0011487 | Increased corneal thickness | 2 | MEGF8 CL E G H | 1954 | 65759 | | | | ORPHA | 1 | | 421 | 3233 | 604267 |
HP:0000481 | HP:0007836 | Mosaic corneal dystrophy | 2 | MEGF8 CL E G H | 1954 | 65759 | | | | ORPHA | 1 | | 421 | 3233 | 604267 |
HP:0000481 | HP:0012040 | Corneal stromal edema | 2 | MEGF8 CL E G H | 1954 | 65759 | | | | ORPHA | 1 | | 421 | 3233 | 604267 |
HP:0000481 | HP:0025349 | Limbal edema | 2 | MEGF8 CL E G H | 1954 | 65759 | | | | ORPHA | 1 | | 421 | 3233 | 604267 |
HP:0000481 | HP:0007962 | Speckled corneal dystrophy | 2 | MEGF8 CL E G H | 1954 | 65759 | | | | ORPHA | 1 | | 421 | 3233 | 604267 |
HP:0000481 | HP:0011490 | Abnormal Descemet membrane morphology | 2 | MEGF8 CL E G H | 1954 | 65759 | | | | ORPHA | 1 | | 421 | 3233 | 604267 |
HP:0000481 | HP:0009915 | Corneal asymmetry | 2 | MEGF8 CL E G H | 1954 | 65759 | | | | ORPHA | 1 | | 421 | 3233 | 604267 |
HP:0000481 | HP:0000483 | Astigmatism | 2 | MEGF8 CL E G H | 1954 | 65759 | | | | ORPHA | 1 | | 421 | 3233 | 604267 |
HP:0000481 | HP:0007720 | Flat cornea | 2 | MEGF8 CL E G H | 1954 | 65759 | | | | ORPHA | 1 | | 421 | 3233 | 604267 |
HP:0000481 | HP:0008005 | Congenital corneal dystrophy | 2 | MEGF8 CL E G H | 1954 | 65759 | | | | ORPHA | 1 | | 421 | 3233 | 604267 |
HP:0000481 | HP:0000482 | Microcornea | 2 | MEGF8 CL E G H | 1954 | 65759 | | | | ORPHA | 1 | | 421 | 3233 | 604267 |
HP:0000481 | HP:0200032 | Kayser-Fleischer ring | 2 | MEGF8 CL E G H | 1954 | 65759 | | | | ORPHA | 1 | | 421 | 3233 | 604267 |
HP:0000481 | HP:0011489 | Abnormal migration of corneal endothelium | 2 | MEGF8 CL E G H | 1954 | 65759 | | | | ORPHA | 1 | | 421 | 3233 | 604267 |
HP:0000481 | HP:0012804 | Corneal ulceration | 2 | MEGF8 CL E G H | 1954 | 65759 | | | | ORPHA | 1 | | 421 | 3233 | 604267 |
HP:0000481 | HP:0001149 | Lattice corneal dystrophy | 2 | MEGF8 CL E G H | 1954 | 65759 | | | | ORPHA | 1 | | 421 | 3233 | 604267 |
HP:0000481 | HP:0007759 | Opacification of the corneal stroma | 2 | MEGF8 CL E G H | 1954 | 65759 | | | | ORPHA | 1 | | 421 | 3233 | 604267 |
HP:0000481 | HP:0000491 | Keratitis | 2 | MEGF8 CL E G H | 1954 | 65759 | | | | ORPHA | 1 | | 355 | 3233 | 604267 |
HP:0000481 | HP:0011487 | Increased corneal thickness | 2 | MEGF8 CL E G H | 1954 | 65759 | | | | ORPHA | 1 | | 355 | 3233 | 604267 |
HP:0000481 | HP:0007836 | Mosaic corneal dystrophy | 2 | MEGF8 CL E G H | 1954 | 65759 | | | | ORPHA | 1 | | 355 | 3233 | 604267 |
HP:0000481 | HP:0012040 | Corneal stromal edema | 2 | MEGF8 CL E G H | 1954 | 65759 | | | | ORPHA | 1 | | 355 | 3233 | 604267 |
HP:0000481 | HP:0025349 | Limbal edema | 2 | MEGF8 CL E G H | 1954 | 65759 | | | | ORPHA | 1 | | 355 | 3233 | 604267 |
HP:0000481 | HP:0007962 | Speckled corneal dystrophy | 2 | MEGF8 CL E G H | 1954 | 65759 | | | | ORPHA | 1 | | 355 | 3233 | 604267 |
HP:0000481 | HP:0011490 | Abnormal Descemet membrane morphology | 2 | MEGF8 CL E G H | 1954 | 65759 | | | | ORPHA | 1 | | 355 | 3233 | 604267 |
HP:0000481 | HP:0009915 | Corneal asymmetry | 2 | MEGF8 CL E G H | 1954 | 65759 | | | | ORPHA | 1 | | 355 | 3233 | 604267 |
HP:0000481 | HP:0000483 | Astigmatism | 2 | MEGF8 CL E G H | 1954 | 65759 | | | | ORPHA | 1 | | 355 | 3233 | 604267 |
HP:0000481 | HP:0007720 | Flat cornea | 2 | MEGF8 CL E G H | 1954 | 65759 | | | | ORPHA | 1 | | 355 | 3233 | 604267 |
HP:0000481 | HP:0008005 | Congenital corneal dystrophy | 2 | MEGF8 CL E G H | 1954 | 65759 | | | | ORPHA | 1 | | 355 | 3233 | 604267 |
HP:0000481 | HP:0000482 | Microcornea | 2 | MEGF8 CL E G H | 1954 | 65759 | | | | ORPHA | 1 | | 355 | 3233 | 604267 |
HP:0000481 | HP:0200032 | Kayser-Fleischer ring | 2 | MEGF8 CL E G H | 1954 | 65759 | | | | ORPHA | 1 | | 355 | 3233 | 604267 |
HP:0000481 | HP:0011489 | Abnormal migration of corneal endothelium | 2 | MEGF8 CL E G H | 1954 | 65759 | | | | ORPHA | 1 | | 355 | 3233 | 604267 |
HP:0000481 | HP:0012804 | Corneal ulceration | 2 | MEGF8 CL E G H | 1954 | 65759 | | | | ORPHA | 1 | | 355 | 3233 | 604267 |
HP:0000481 | HP:0001149 | Lattice corneal dystrophy | 2 | MEGF8 CL E G H | 1954 | 65759 | | | | ORPHA | 1 | | 355 | 3233 | 604267 |
HP:0000481 | HP:0007759 | Opacification of the corneal stroma | 2 | MEGF8 CL E G H | 1954 | 65759 | | | | ORPHA | 1 | | 355 | 3233 | 604267 |
HP:0000481 | HP:0025341 | Corneal keratic precipitates | 2 | MEGF8 CL E G H | 1954 | 65759 | | | | ORPHA | 1 | | 355 | 3233 | 604267 |
HP:0000481 | HP:0000627 | Posterior embryotoxon | 2 | MEGF8 CL E G H | 1954 | 65759 | | | | ORPHA | 1 | | 355 | 3233 | 604267 |
HP:0000481 | HP:0007880 | Marginal corneal dystrophy | 2 | MEGF8 CL E G H | 1954 | 65759 | | | | ORPHA | 1 | | 421 | 3233 | 604267 |
HP:0000481 | HP:0000647 | Sclerocornea | 2 | MEGF8 CL E G H | 1954 | 65759 | | | | ORPHA | 1 | | 421 | 3233 | 604267 |
HP:0000481 | HP:0011491 | Reduced number of corneal endothelial cells | 2 | MEGF8 CL E G H | 1954 | 65759 | | | | ORPHA | 1 | | 421 | 3233 | 604267 |
HP:0000481 | HP:0007809 | Punctate corneal dystrophy | 2 | MEGF8 CL E G H | 1954 | 65759 | | | | ORPHA | 1 | | 421 | 3233 | 604267 |
HP:0000481 | HP:0200020 | Corneal erosion | 2 | MEGF8 CL E G H | 1954 | 65759 | | | | ORPHA | 1 | | 421 | 3233 | 604267 |
HP:0000481 | HP:0200066 | Ribbonlike corneal degeneration | 2 | MEGF8 CL E G H | 1954 | 65759 | | | | ORPHA | 1 | | 421 | 3233 | 604267 |
HP:0000481 | HP:0010726 | Prominent corneal nerve fibers | 2 | MEGF8 CL E G H | 1954 | 65759 | | | | ORPHA | 1 | | 421 | 3233 | 604267 |
HP:0000481 | HP:0007709 | Band-shaped corneal dystrophy | 2 | MEGF8 CL E G H | 1954 | 65759 | | | | ORPHA | 1 | | 421 | 3233 | 604267 |
HP:0000481 | HP:0000485 | Megalocornea | 2 | MEGF8 CL E G H | 1954 | 65759 | | | | ORPHA | 1 | | 421 | 3233 | 604267 |
HP:0000481 | HP:0000559 | Corneal scarring | 2 | MEGF8 CL E G H | 1954 | 65759 | | | | ORPHA | 1 | | 421 | 3233 | 604267 |
HP:0000481 | HP:0100692 | Increased corneal curvature | 2 | MEGF8 CL E G H | 1954 | 65759 | | | | ORPHA | 1 | | 421 | 3233 | 604267 |
HP:0000481 | HP:0100689 | Decreased corneal thickness | 2 | MEGF8 CL E G H | 1954 | 65759 | | | | ORPHA | 1 | | 421 | 3233 | 604267 |
HP:0000481 | HP:0007802 | Granular corneal dystrophy | 2 | MEGF8 CL E G H | 1954 | 65759 | | | | ORPHA | 1 | | 421 | 3233 | 604267 |
HP:0000481 | HP:0007727 | Opacification of the corneal epithelium | 2 | MEGF8 CL E G H | 1954 | 65759 | | | | ORPHA | 1 | | 421 | 3233 | 604267 |
HP:0000481 | HP:0007873 | Abnormally prominent line of Schwalbe | 2 | MEGF8 CL E G H | 1954 | 65759 | | | | ORPHA | 1 | | 421 | 3233 | 604267 |
HP:0000481 | HP:0007836 | Mosaic corneal dystrophy | 2 | PITX2 CL E G H | 5308 | 180550 | Ring dermoid of cornea | 180550 | C1867155 | OMIM | 1 | | 174 | 9005 | 601542 |
HP:0000481 | HP:0012040 | Corneal stromal edema | 2 | PITX2 CL E G H | 5308 | 180550 | Ring dermoid of cornea | 180550 | C1867155 | OMIM | 1 | | 174 | 9005 | 601542 |
HP:0000481 | HP:0025349 | Limbal edema | 2 | PITX2 CL E G H | 5308 | 180550 | Ring dermoid of cornea | 180550 | C1867155 | OMIM | 1 | | 174 | 9005 | 601542 |
HP:0000481 | HP:0007962 | Speckled corneal dystrophy | 2 | PITX2 CL E G H | 5308 | 180550 | Ring dermoid of cornea | 180550 | C1867155 | OMIM | 1 | | 174 | 9005 | 601542 |
HP:0000481 | HP:0011490 | Abnormal Descemet membrane morphology | 2 | PITX2 CL E G H | 5308 | 180550 | Ring dermoid of cornea | 180550 | C1867155 | OMIM | 1 | | 174 | 9005 | 601542 |
HP:0000481 | HP:0009915 | Corneal asymmetry | 2 | PITX2 CL E G H | 5308 | 180550 | Ring dermoid of cornea | 180550 | C1867155 | OMIM | 1 | | 174 | 9005 | 601542 |
HP:0000481 | HP:0000483 | Astigmatism | 2 | PITX2 CL E G H | 5308 | 180550 | Ring dermoid of cornea | 180550 | C1867155 | OMIM | 1 | | 174 | 9005 | 601542 |
HP:0000481 | HP:0007720 | Flat cornea | 2 | PITX2 CL E G H | 5308 | 180550 | Ring dermoid of cornea | 180550 | C1867155 | OMIM | 1 | | 174 | 9005 | 601542 |
HP:0000481 | HP:0008005 | Congenital corneal dystrophy | 2 | PITX2 CL E G H | 5308 | 180550 | Ring dermoid of cornea | 180550 | C1867155 | OMIM | 1 | | 174 | 9005 | 601542 |
HP:0000481 | HP:0000482 | Microcornea | 2 | PITX2 CL E G H | 5308 | 180550 | Ring dermoid of cornea | 180550 | C1867155 | OMIM | 1 | | 174 | 9005 | 601542 |
HP:0000481 | HP:0200032 | Kayser-Fleischer ring | 2 | PITX2 CL E G H | 5308 | 180550 | Ring dermoid of cornea | 180550 | C1867155 | OMIM | 1 | | 174 | 9005 | 601542 |
HP:0000481 | HP:0011489 | Abnormal migration of corneal endothelium | 2 | PITX2 CL E G H | 5308 | 180550 | Ring dermoid of cornea | 180550 | C1867155 | OMIM | 1 | | 174 | 9005 | 601542 |
HP:0000481 | HP:0012804 | Corneal ulceration | 2 | PITX2 CL E G H | 5308 | 180550 | Ring dermoid of cornea | 180550 | C1867155 | OMIM | 1 | | 174 | 9005 | 601542 |
HP:0000481 | HP:0001149 | Lattice corneal dystrophy | 2 | PITX2 CL E G H | 5308 | 180550 | Ring dermoid of cornea | 180550 | C1867155 | OMIM | 1 | | 174 | 9005 | 601542 |
HP:0000481 | HP:0007759 | Opacification of the corneal stroma | 2 | PITX2 CL E G H | 5308 | 180550 | Ring dermoid of cornea | 180550 | C1867155 | OMIM | 1 | | 174 | 9005 | 601542 |
HP:0000481 | HP:0025341 | Corneal keratic precipitates | 2 | PITX2 CL E G H | 5308 | 180550 | Ring dermoid of cornea | 180550 | C1867155 | OMIM | 1 | | 174 | 9005 | 601542 |
HP:0000481 | HP:0000627 | Posterior embryotoxon | 2 | PITX2 CL E G H | 5308 | 180550 | Ring dermoid of cornea | 180550 | C1867155 | OMIM | 1 | | 174 | 9005 | 601542 |
HP:0000481 | HP:0000491 | Keratitis | 2 | PITX2 CL E G H | 5308 | 180550 | Ring dermoid of cornea | 180550 | C1867155 | OMIM | 1 | | 174 | 9005 | 601542 |
HP:0000481 | HP:0011487 | Increased corneal thickness | 2 | PITX2 CL E G H | 5308 | 180550 | Ring dermoid of cornea | 180550 | C1867155 | OMIM | 1 | | 174 | 9005 | 601542 |
HP:0000481 | HP:0012040 | Corneal stromal edema | 2 | PITX2 CL E G H | 5308 | 180550 | Ring dermoid of cornea | 180550 | C1867155 | OMIM | 1 | | 166 | 9005 | 601542 |
HP:0000481 | HP:0025349 | Limbal edema | 2 | PITX2 CL E G H | 5308 | 180550 | Ring dermoid of cornea | 180550 | C1867155 | OMIM | 1 | | 166 | 9005 | 601542 |
HP:0000481 | HP:0007962 | Speckled corneal dystrophy | 2 | PITX2 CL E G H | 5308 | 180550 | Ring dermoid of cornea | 180550 | C1867155 | OMIM | 1 | | 166 | 9005 | 601542 |
HP:0000481 | HP:0011490 | Abnormal Descemet membrane morphology | 2 | PITX2 CL E G H | 5308 | 180550 | Ring dermoid of cornea | 180550 | C1867155 | OMIM | 1 | | 166 | 9005 | 601542 |
HP:0000481 | HP:0009915 | Corneal asymmetry | 2 | PITX2 CL E G H | 5308 | 180550 | Ring dermoid of cornea | 180550 | C1867155 | OMIM | 1 | | 166 | 9005 | 601542 |
HP:0000481 | HP:0000483 | Astigmatism | 2 | PITX2 CL E G H | 5308 | 180550 | Ring dermoid of cornea | 180550 | C1867155 | OMIM | 1 | | 166 | 9005 | 601542 |
HP:0000481 | HP:0007720 | Flat cornea | 2 | PITX2 CL E G H | 5308 | 180550 | Ring dermoid of cornea | 180550 | C1867155 | OMIM | 1 | | 166 | 9005 | 601542 |
HP:0000481 | HP:0008005 | Congenital corneal dystrophy | 2 | PITX2 CL E G H | 5308 | 180550 | Ring dermoid of cornea | 180550 | C1867155 | OMIM | 1 | | 166 | 9005 | 601542 |
HP:0000481 | HP:0000482 | Microcornea | 2 | PITX2 CL E G H | 5308 | 180550 | Ring dermoid of cornea | 180550 | C1867155 | OMIM | 1 | | 166 | 9005 | 601542 |
HP:0000481 | HP:0200032 | Kayser-Fleischer ring | 2 | PITX2 CL E G H | 5308 | 180550 | Ring dermoid of cornea | 180550 | C1867155 | OMIM | 1 | | 166 | 9005 | 601542 |
HP:0000481 | HP:0011489 | Abnormal migration of corneal endothelium | 2 | PITX2 CL E G H | 5308 | 180550 | Ring dermoid of cornea | 180550 | C1867155 | OMIM | 1 | | 166 | 9005 | 601542 |
HP:0000481 | HP:0012804 | Corneal ulceration | 2 | PITX2 CL E G H | 5308 | 180550 | Ring dermoid of cornea | 180550 | C1867155 | OMIM | 1 | | 166 | 9005 | 601542 |
HP:0000481 | HP:0001149 | Lattice corneal dystrophy | 2 | PITX2 CL E G H | 5308 | 180550 | Ring dermoid of cornea | 180550 | C1867155 | OMIM | 1 | | 166 | 9005 | 601542 |
HP:0000481 | HP:0007759 | Opacification of the corneal stroma | 2 | PITX2 CL E G H | 5308 | 180550 | Ring dermoid of cornea | 180550 | C1867155 | OMIM | 1 | | 166 | 9005 | 601542 |
HP:0000481 | HP:0025341 | Corneal keratic precipitates | 2 | PITX2 CL E G H | 5308 | 180550 | Ring dermoid of cornea | 180550 | C1867155 | OMIM | 1 | | 166 | 9005 | 601542 |
HP:0000481 | HP:0000627 | Posterior embryotoxon | 2 | PITX2 CL E G H | 5308 | 180550 | Ring dermoid of cornea | 180550 | C1867155 | OMIM | 1 | | 166 | 9005 | 601542 |
HP:0000481 | HP:0000491 | Keratitis | 2 | PITX2 CL E G H | 5308 | 180550 | Ring dermoid of cornea | 180550 | C1867155 | OMIM | 1 | | 166 | 9005 | 601542 |
HP:0000481 | HP:0011487 | Increased corneal thickness | 2 | PITX2 CL E G H | 5308 | 180550 | Ring dermoid of cornea | 180550 | C1867155 | OMIM | 1 | | 166 | 9005 | 601542 |
HP:0000481 | HP:0007836 | Mosaic corneal dystrophy | 2 | PITX2 CL E G H | 5308 | 180550 | Ring dermoid of cornea | 180550 | C1867155 | OMIM | 1 | | 166 | 9005 | 601542 |
HP:0000481 | HP:0011491 | Reduced number of corneal endothelial cells | 2 | PITX2 CL E G H | 5308 | 180550 | Ring dermoid of cornea | 180550 | C1867155 | OMIM | 1 | | 174 | 9005 | 601542 |
HP:0000481 | HP:0007809 | Punctate corneal dystrophy | 2 | PITX2 CL E G H | 5308 | 180550 | Ring dermoid of cornea | 180550 | C1867155 | OMIM | 1 | | 174 | 9005 | 601542 |
HP:0000481 | HP:0200020 | Corneal erosion | 2 | PITX2 CL E G H | 5308 | 180550 | Ring dermoid of cornea | 180550 | C1867155 | OMIM | 1 | | 174 | 9005 | 601542 |
HP:0000481 | HP:0200066 | Ribbonlike corneal degeneration | 2 | PITX2 CL E G H | 5308 | 180550 | Ring dermoid of cornea | 180550 | C1867155 | OMIM | 1 | | 174 | 9005 | 601542 |
HP:0000481 | HP:0010726 | Prominent corneal nerve fibers | 2 | PITX2 CL E G H | 5308 | 180550 | Ring dermoid of cornea | 180550 | C1867155 | OMIM | 1 | | 174 | 9005 | 601542 |
HP:0000481 | HP:0007709 | Band-shaped corneal dystrophy | 2 | PITX2 CL E G H | 5308 | 180550 | Ring dermoid of cornea | 180550 | C1867155 | OMIM | 1 | | 174 | 9005 | 601542 |
HP:0000481 | HP:0000485 | Megalocornea | 2 | PITX2 CL E G H | 5308 | 180550 | Ring dermoid of cornea | 180550 | C1867155 | OMIM | 1 | | 174 | 9005 | 601542 |
HP:0000481 | HP:0000559 | Corneal scarring | 2 | PITX2 CL E G H | 5308 | 180550 | Ring dermoid of cornea | 180550 | C1867155 | OMIM | 1 | | 174 | 9005 | 601542 |
HP:0000481 | HP:0100692 | Increased corneal curvature | 2 | PITX2 CL E G H | 5308 | 180550 | Ring dermoid of cornea | 180550 | C1867155 | OMIM | 1 | | 174 | 9005 | 601542 |
HP:0000481 | HP:0100689 | Decreased corneal thickness | 2 | PITX2 CL E G H | 5308 | 180550 | Ring dermoid of cornea | 180550 | C1867155 | OMIM | 1 | | 174 | 9005 | 601542 |
HP:0000481 | HP:0007802 | Granular corneal dystrophy | 2 | PITX2 CL E G H | 5308 | 180550 | Ring dermoid of cornea | 180550 | C1867155 | OMIM | 1 | | 174 | 9005 | 601542 |
HP:0000481 | HP:0007727 | Opacification of the corneal epithelium | 2 | PITX2 CL E G H | 5308 | 180550 | Ring dermoid of cornea | 180550 | C1867155 | OMIM | 1 | | 174 | 9005 | 601542 |
HP:0000481 | HP:0007873 | Abnormally prominent line of Schwalbe | 2 | PITX2 CL E G H | 5308 | 180550 | Ring dermoid of cornea | 180550 | C1867155 | OMIM | 1 | | 174 | 9005 | 601542 |
HP:0000481 | HP:0007880 | Marginal corneal dystrophy | 2 | PITX2 CL E G H | 5308 | 180550 | Ring dermoid of cornea | 180550 | C1867155 | OMIM | 1 | | 174 | 9005 | 601542 |
HP:0000481 | HP:0000647 | Sclerocornea | 2 | PITX2 CL E G H | 5308 | 180550 | Ring dermoid of cornea | 180550 | C1867155 | OMIM | 1 | | 174 | 9005 | 601542 |
HP:0000481 | HP:0007809 | Punctate corneal dystrophy | 2 | PITX2 CL E G H | 5308 | 180550 | Ring dermoid of cornea | 180550 | C1867155 | OMIM | 1 | | 166 | 9005 | 601542 |
HP:0000481 | HP:0200020 | Corneal erosion | 2 | PITX2 CL E G H | 5308 | 180550 | Ring dermoid of cornea | 180550 | C1867155 | OMIM | 1 | | 166 | 9005 | 601542 |
HP:0000481 | HP:0200066 | Ribbonlike corneal degeneration | 2 | PITX2 CL E G H | 5308 | 180550 | Ring dermoid of cornea | 180550 | C1867155 | OMIM | 1 | | 166 | 9005 | 601542 |
HP:0000481 | HP:0010726 | Prominent corneal nerve fibers | 2 | PITX2 CL E G H | 5308 | 180550 | Ring dermoid of cornea | 180550 | C1867155 | OMIM | 1 | | 166 | 9005 | 601542 |
HP:0000481 | HP:0007709 | Band-shaped corneal dystrophy | 2 | PITX2 CL E G H | 5308 | 180550 | Ring dermoid of cornea | 180550 | C1867155 | OMIM | 1 | | 166 | 9005 | 601542 |
HP:0000481 | HP:0000485 | Megalocornea | 2 | PITX2 CL E G H | 5308 | 180550 | Ring dermoid of cornea | 180550 | C1867155 | OMIM | 1 | | 166 | 9005 | 601542 |
HP:0000481 | HP:0000559 | Corneal scarring | 2 | PITX2 CL E G H | 5308 | 180550 | Ring dermoid of cornea | 180550 | C1867155 | OMIM | 1 | | 166 | 9005 | 601542 |
HP:0000481 | HP:0100692 | Increased corneal curvature | 2 | PITX2 CL E G H | 5308 | 180550 | Ring dermoid of cornea | 180550 | C1867155 | OMIM | 1 | | 166 | 9005 | 601542 |
HP:0000481 | HP:0100689 | Decreased corneal thickness | 2 | PITX2 CL E G H | 5308 | 180550 | Ring dermoid of cornea | 180550 | C1867155 | OMIM | 1 | | 166 | 9005 | 601542 |
HP:0000481 | HP:0007802 | Granular corneal dystrophy | 2 | PITX2 CL E G H | 5308 | 180550 | Ring dermoid of cornea | 180550 | C1867155 | OMIM | 1 | | 166 | 9005 | 601542 |
HP:0000481 | HP:0007727 | Opacification of the corneal epithelium | 2 | PITX2 CL E G H | 5308 | 180550 | Ring dermoid of cornea | 180550 | C1867155 | OMIM | 1 | | 166 | 9005 | 601542 |
HP:0000481 | HP:0007873 | Abnormally prominent line of Schwalbe | 2 | PITX2 CL E G H | 5308 | 180550 | Ring dermoid of cornea | 180550 | C1867155 | OMIM | 1 | | 166 | 9005 | 601542 |
HP:0000481 | HP:0007880 | Marginal corneal dystrophy | 2 | PITX2 CL E G H | 5308 | 180550 | Ring dermoid of cornea | 180550 | C1867155 | OMIM | 1 | | 166 | 9005 | 601542 |
HP:0000481 | HP:0000647 | Sclerocornea | 2 | PITX2 CL E G H | 5308 | 180550 | Ring dermoid of cornea | 180550 | C1867155 | OMIM | 1 | | 166 | 9005 | 601542 |
HP:0000481 | HP:0011491 | Reduced number of corneal endothelial cells | 2 | PITX2 CL E G H | 5308 | 180550 | Ring dermoid of cornea | 180550 | C1867155 | OMIM | 1 | | 166 | 9005 | 601542 |
HP:0000481 | HP:0025349 | Limbal edema | 2 | RAB23 CL E G H | 51715 | 65759 | | | | ORPHA | 1 | | 158 | 14263 | 606144 |
HP:0000481 | HP:0007962 | Speckled corneal dystrophy | 2 | RAB23 CL E G H | 51715 | 65759 | | | | ORPHA | 1 | | 158 | 14263 | 606144 |
HP:0000481 | HP:0009915 | Corneal asymmetry | 2 | RAB23 CL E G H | 51715 | 65759 | | | | ORPHA | 1 | | 158 | 14263 | 606144 |
HP:0000481 | HP:0000483 | Astigmatism | 2 | RAB23 CL E G H | 51715 | 65759 | | | | ORPHA | 1 | | 158 | 14263 | 606144 |
HP:0000481 | HP:0007720 | Flat cornea | 2 | RAB23 CL E G H | 51715 | 65759 | | | | ORPHA | 1 | | 158 | 14263 | 606144 |
HP:0000481 | HP:0008005 | Congenital corneal dystrophy | 2 | RAB23 CL E G H | 51715 | 65759 | | | | ORPHA | 1 | | 158 | 14263 | 606144 |
HP:0000481 | HP:0000482 | Microcornea | 2 | RAB23 CL E G H | 51715 | 65759 | | | | ORPHA | 1 | | 158 | 14263 | 606144 |
HP:0000481 | HP:0200032 | Kayser-Fleischer ring | 2 | RAB23 CL E G H | 51715 | 65759 | | | | ORPHA | 1 | | 158 | 14263 | 606144 |
HP:0000481 | HP:0012804 | Corneal ulceration | 2 | RAB23 CL E G H | 51715 | 65759 | | | | ORPHA | 1 | | 158 | 14263 | 606144 |
HP:0000481 | HP:0001149 | Lattice corneal dystrophy | 2 | RAB23 CL E G H | 51715 | 65759 | | | | ORPHA | 1 | | 158 | 14263 | 606144 |
HP:0000481 | HP:0007759 | Opacification of the corneal stroma | 2 | RAB23 CL E G H | 51715 | 65759 | | | | ORPHA | 1 | | 158 | 14263 | 606144 |
HP:0000481 | HP:0000627 | Posterior embryotoxon | 2 | RAB23 CL E G H | 51715 | 65759 | | | | ORPHA | 1 | | 158 | 14263 | 606144 |
HP:0000481 | HP:0000491 | Keratitis | 2 | RAB23 CL E G H | 51715 | 65759 | | | | ORPHA | 1 | | 158 | 14263 | 606144 |
HP:0000481 | HP:0011487 | Increased corneal thickness | 2 | RAB23 CL E G H | 51715 | 65759 | | | | ORPHA | 1 | | 158 | 14263 | 606144 |
HP:0000481 | HP:0007836 | Mosaic corneal dystrophy | 2 | RAB23 CL E G H | 51715 | 65759 | | | | ORPHA | 1 | | 158 | 14263 | 606144 |
HP:0000481 | HP:0011490 | Abnormal Descemet membrane morphology | 2 | RAB23 CL E G H | 51715 | 65759 | | | | ORPHA | 1 | | 152 | 14263 | 606144 |
HP:0000481 | HP:0011489 | Abnormal migration of corneal endothelium | 2 | RAB23 CL E G H | 51715 | 65759 | | | | ORPHA | 1 | | 152 | 14263 | 606144 |
HP:0000481 | HP:0025341 | Corneal keratic precipitates | 2 | RAB23 CL E G H | 51715 | 65759 | | | | ORPHA | 1 | | 152 | 14263 | 606144 |
HP:0000481 | HP:0012040 | Corneal stromal edema | 2 | RAB23 CL E G H | 51715 | 65759 | | | | ORPHA | 1 | | 152 | 14263 | 606144 |
HP:0000481 | HP:0025349 | Limbal edema | 2 | RAB23 CL E G H | 51715 | 65759 | | | | ORPHA | 1 | | 152 | 14263 | 606144 |
HP:0000481 | HP:0007962 | Speckled corneal dystrophy | 2 | RAB23 CL E G H | 51715 | 65759 | | | | ORPHA | 1 | | 152 | 14263 | 606144 |
HP:0000481 | HP:0009915 | Corneal asymmetry | 2 | RAB23 CL E G H | 51715 | 65759 | | | | ORPHA | 1 | | 152 | 14263 | 606144 |
HP:0000481 | HP:0000483 | Astigmatism | 2 | RAB23 CL E G H | 51715 | 65759 | | | | ORPHA | 1 | | 152 | 14263 | 606144 |
HP:0000481 | HP:0007720 | Flat cornea | 2 | RAB23 CL E G H | 51715 | 65759 | | | | ORPHA | 1 | | 152 | 14263 | 606144 |
HP:0000481 | HP:0008005 | Congenital corneal dystrophy | 2 | RAB23 CL E G H | 51715 | 65759 | | | | ORPHA | 1 | | 152 | 14263 | 606144 |
HP:0000481 | HP:0000482 | Microcornea | 2 | RAB23 CL E G H | 51715 | 65759 | | | | ORPHA | 1 | | 152 | 14263 | 606144 |
HP:0000481 | HP:0200032 | Kayser-Fleischer ring | 2 | RAB23 CL E G H | 51715 | 65759 | | | | ORPHA | 1 | | 152 | 14263 | 606144 |
HP:0000481 | HP:0012804 | Corneal ulceration | 2 | RAB23 CL E G H | 51715 | 65759 | | | | ORPHA | 1 | | 152 | 14263 | 606144 |
HP:0000481 | HP:0001149 | Lattice corneal dystrophy | 2 | RAB23 CL E G H | 51715 | 65759 | | | | ORPHA | 1 | | 152 | 14263 | 606144 |
HP:0000481 | HP:0007759 | Opacification of the corneal stroma | 2 | RAB23 CL E G H | 51715 | 65759 | | | | ORPHA | 1 | | 152 | 14263 | 606144 |
HP:0000481 | HP:0000627 | Posterior embryotoxon | 2 | RAB23 CL E G H | 51715 | 65759 | | | | ORPHA | 1 | | 152 | 14263 | 606144 |
HP:0000481 | HP:0000491 | Keratitis | 2 | RAB23 CL E G H | 51715 | 65759 | | | | ORPHA | 1 | | 152 | 14263 | 606144 |
HP:0000481 | HP:0011487 | Increased corneal thickness | 2 | RAB23 CL E G H | 51715 | 65759 | | | | ORPHA | 1 | | 152 | 14263 | 606144 |
HP:0000481 | HP:0007836 | Mosaic corneal dystrophy | 2 | RAB23 CL E G H | 51715 | 65759 | | | | ORPHA | 1 | | 152 | 14263 | 606144 |
HP:0000481 | HP:0200020 | Corneal erosion | 2 | RAB23 CL E G H | 51715 | 65759 | | | | ORPHA | 1 | | 158 | 14263 | 606144 |
HP:0000481 | HP:0011491 | Reduced number of corneal endothelial cells | 2 | RAB23 CL E G H | 51715 | 65759 | | | | ORPHA | 1 | | 158 | 14263 | 606144 |
HP:0000481 | HP:0007809 | Punctate corneal dystrophy | 2 | RAB23 CL E G H | 51715 | 65759 | | | | ORPHA | 1 | | 158 | 14263 | 606144 |
HP:0000481 | HP:0200066 | Ribbonlike corneal degeneration | 2 | RAB23 CL E G H | 51715 | 65759 | | | | ORPHA | 1 | | 158 | 14263 | 606144 |
HP:0000481 | HP:0010726 | Prominent corneal nerve fibers | 2 | RAB23 CL E G H | 51715 | 65759 | | | | ORPHA | 1 | | 158 | 14263 | 606144 |
HP:0000481 | HP:0007709 | Band-shaped corneal dystrophy | 2 | RAB23 CL E G H | 51715 | 65759 | | | | ORPHA | 1 | | 158 | 14263 | 606144 |
HP:0000481 | HP:0000485 | Megalocornea | 2 | RAB23 CL E G H | 51715 | 65759 | | | | ORPHA | 1 | | 158 | 14263 | 606144 |
HP:0000481 | HP:0000559 | Corneal scarring | 2 | RAB23 CL E G H | 51715 | 65759 | | | | ORPHA | 1 | | 158 | 14263 | 606144 |
HP:0000481 | HP:0100692 | Increased corneal curvature | 2 | RAB23 CL E G H | 51715 | 65759 | | | | ORPHA | 1 | | 158 | 14263 | 606144 |
HP:0000481 | HP:0100689 | Decreased corneal thickness | 2 | RAB23 CL E G H | 51715 | 65759 | | | | ORPHA | 1 | | 158 | 14263 | 606144 |
HP:0000481 | HP:0007802 | Granular corneal dystrophy | 2 | RAB23 CL E G H | 51715 | 65759 | | | | ORPHA | 1 | | 158 | 14263 | 606144 |
HP:0000481 | HP:0007727 | Opacification of the corneal epithelium | 2 | RAB23 CL E G H | 51715 | 65759 | | | | ORPHA | 1 | | 158 | 14263 | 606144 |
HP:0000481 | HP:0007873 | Abnormally prominent line of Schwalbe | 2 | RAB23 CL E G H | 51715 | 65759 | | | | ORPHA | 1 | | 158 | 14263 | 606144 |
HP:0000481 | HP:0007880 | Marginal corneal dystrophy | 2 | RAB23 CL E G H | 51715 | 65759 | | | | ORPHA | 1 | | 158 | 14263 | 606144 |
HP:0000481 | HP:0000647 | Sclerocornea | 2 | RAB23 CL E G H | 51715 | 65759 | | | | ORPHA | 1 | | 158 | 14263 | 606144 |
HP:0000481 | HP:0200020 | Corneal erosion | 2 | RAB23 CL E G H | 51715 | 65759 | | | | ORPHA | 1 | | 152 | 14263 | 606144 |
HP:0000481 | HP:0011491 | Reduced number of corneal endothelial cells | 2 | RAB23 CL E G H | 51715 | 65759 | | | | ORPHA | 1 | | 152 | 14263 | 606144 |
HP:0000481 | HP:0200066 | Ribbonlike corneal degeneration | 2 | RAB23 CL E G H | 51715 | 65759 | | | | ORPHA | 1 | | 152 | 14263 | 606144 |
HP:0000481 | HP:0010726 | Prominent corneal nerve fibers | 2 | RAB23 CL E G H | 51715 | 65759 | | | | ORPHA | 1 | | 152 | 14263 | 606144 |
HP:0000481 | HP:0007709 | Band-shaped corneal dystrophy | 2 | RAB23 CL E G H | 51715 | 65759 | | | | ORPHA | 1 | | 152 | 14263 | 606144 |
HP:0000481 | HP:0000485 | Megalocornea | 2 | RAB23 CL E G H | 51715 | 65759 | | | | ORPHA | 1 | | 152 | 14263 | 606144 |
HP:0000481 | HP:0000559 | Corneal scarring | 2 | RAB23 CL E G H | 51715 | 65759 | | | | ORPHA | 1 | | 152 | 14263 | 606144 |
HP:0000481 | HP:0100692 | Increased corneal curvature | 2 | RAB23 CL E G H | 51715 | 65759 | | | | ORPHA | 1 | | 152 | 14263 | 606144 |
HP:0000481 | HP:0100689 | Decreased corneal thickness | 2 | RAB23 CL E G H | 51715 | 65759 | | | | ORPHA | 1 | | 152 | 14263 | 606144 |
HP:0000481 | HP:0007802 | Granular corneal dystrophy | 2 | RAB23 CL E G H | 51715 | 65759 | | | | ORPHA | 1 | | 152 | 14263 | 606144 |
HP:0000481 | HP:0007727 | Opacification of the corneal epithelium | 2 | RAB23 CL E G H | 51715 | 65759 | | | | ORPHA | 1 | | 152 | 14263 | 606144 |
HP:0000481 | HP:0007873 | Abnormally prominent line of Schwalbe | 2 | RAB23 CL E G H | 51715 | 65759 | | | | ORPHA | 1 | | 152 | 14263 | 606144 |
HP:0000481 | HP:0007880 | Marginal corneal dystrophy | 2 | RAB23 CL E G H | 51715 | 65759 | | | | ORPHA | 1 | | 152 | 14263 | 606144 |
HP:0000481 | HP:0000647 | Sclerocornea | 2 | RAB23 CL E G H | 51715 | 65759 | | | | ORPHA | 1 | | 152 | 14263 | 606144 |
HP:0000481 | HP:0007809 | Punctate corneal dystrophy | 2 | RAB23 CL E G H | 51715 | 65759 | | | | ORPHA | 1 | | 152 | 14263 | 606144 |
HP:0000481 | HP:0011490 | Abnormal Descemet membrane morphology | 2 | RAB23 CL E G H | 51715 | 65759 | | | | ORPHA | 1 | | 158 | 14263 | 606144 |
HP:0000481 | HP:0011489 | Abnormal migration of corneal endothelium | 2 | RAB23 CL E G H | 51715 | 65759 | | | | ORPHA | 1 | | 158 | 14263 | 606144 |
HP:0000481 | HP:0025341 | Corneal keratic precipitates | 2 | RAB23 CL E G H | 51715 | 65759 | | | | ORPHA | 1 | | 158 | 14263 | 606144 |
HP:0000481 | HP:0012040 | Corneal stromal edema | 2 | RAB23 CL E G H | 51715 | 65759 | | | | ORPHA | 1 | | 158 | 14263 | 606144 |
HP:0000481 | HP:0007856 | Punctate opacification of the cornea | 3 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1071 | 2348 | 600140 |
HP:0000481 | HP:0012038 | Corneal guttata | 3 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1071 | 2348 | 600140 |
HP:0000481 | HP:0031788 | With the rule astigmatism | 3 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1071 | 2348 | 600140 |
HP:0000481 | HP:0007690 | Map-dot-fingerprint corneal dystrophy | 3 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1071 | 2348 | 600140 |
HP:0000481 | HP:0031789 | Against the rule astigmatism | 3 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1071 | 2348 | 600140 |
HP:0000481 | HP:0031159 | Thinning of Descemet membrane | 3 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1071 | 2348 | 600140 |
HP:0000481 | HP:0000495 | Recurrent corneal erosions | 3 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1071 | 2348 | 600140 |
HP:0000481 | HP:0001096 | Keratoconjunctivitis | 3 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1071 | 2348 | 600140 |
HP:0000481 | HP:0000484 | Hyperopic astigmatism | 3 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1071 | 2348 | 600140 |
HP:0000481 | HP:0007915 | Polymorphous posterior corneal dystrophy | 3 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1071 | 2348 | 600140 |
HP:0000481 | HP:0011494 | Generalized opacification of the cornea | 3 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1071 | 2348 | 600140 |
HP:0000481 | HP:0007812 | Herpetiform corneal ulceration | 3 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1071 | 2348 | 600140 |
HP:0000481 | HP:0001119 | Keratoglobus | 3 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1071 | 2348 | 600140 |
HP:0000481 | HP:0011493 | Central opacification of the cornea | 3 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1071 | 2348 | 600140 |
HP:0000481 | HP:0031791 | Lenticular astigmatism | 3 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1071 | 2348 | 600140 |
HP:0000481 | HP:0008011 | Peripheral opacification of the cornea | 3 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1071 | 2348 | 600140 |
HP:0000481 | HP:0011859 | Punctate keratitis | 3 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1071 | 2348 | 600140 |
HP:0000481 | HP:0500041 | Myopic astigmatism | 3 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1071 | 2348 | 600140 |
HP:0000481 | HP:0012038 | Corneal guttata | 3 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1012 | 2348 | 600140 |
HP:0000481 | HP:0031788 | With the rule astigmatism | 3 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1012 | 2348 | 600140 |
HP:0000481 | HP:0007690 | Map-dot-fingerprint corneal dystrophy | 3 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1012 | 2348 | 600140 |
HP:0000481 | HP:0031789 | Against the rule astigmatism | 3 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1012 | 2348 | 600140 |
HP:0000481 | HP:0031159 | Thinning of Descemet membrane | 3 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1012 | 2348 | 600140 |
HP:0000481 | HP:0000495 | Recurrent corneal erosions | 3 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1012 | 2348 | 600140 |
HP:0000481 | HP:0001096 | Keratoconjunctivitis | 3 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1012 | 2348 | 600140 |
HP:0000481 | HP:0000484 | Hyperopic astigmatism | 3 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1012 | 2348 | 600140 |
HP:0000481 | HP:0007915 | Polymorphous posterior corneal dystrophy | 3 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1012 | 2348 | 600140 |
HP:0000481 | HP:0011494 | Generalized opacification of the cornea | 3 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1012 | 2348 | 600140 |
HP:0000481 | HP:0007812 | Herpetiform corneal ulceration | 3 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1012 | 2348 | 600140 |
HP:0000481 | HP:0001119 | Keratoglobus | 3 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1012 | 2348 | 600140 |
HP:0000481 | HP:0011493 | Central opacification of the cornea | 3 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1012 | 2348 | 600140 |
HP:0000481 | HP:0031791 | Lenticular astigmatism | 3 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1012 | 2348 | 600140 |
HP:0000481 | HP:0008011 | Peripheral opacification of the cornea | 3 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1012 | 2348 | 600140 |
HP:0000481 | HP:0011859 | Punctate keratitis | 3 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1012 | 2348 | 600140 |
HP:0000481 | HP:0500041 | Myopic astigmatism | 3 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1012 | 2348 | 600140 |
HP:0000481 | HP:0007856 | Punctate opacification of the cornea | 3 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1012 | 2348 | 600140 |
HP:0000481 | HP:0100690 | Mosaic central corneal dystrophy | 3 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1071 | 2348 | 600140 |
HP:0000481 | HP:0031787 | Oblique astigmatism | 3 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1071 | 2348 | 600140 |
HP:0000481 | HP:0007755 | Juvenile epithelial corneal dystrophy | 3 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1071 | 2348 | 600140 |
HP:0000481 | HP:0012039 | Descemet Membrane Folds | 3 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1071 | 2348 | 600140 |
HP:0000481 | HP:0000584 | Punctate corneal epithelial erosions | 3 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1071 | 2348 | 600140 |
HP:0000481 | HP:0025612 | Corneal astigmatism | 3 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1071 | 2348 | 600140 |
HP:0000481 | HP:0000531 | Corneal crystals | 3 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1071 | 2348 | 600140 |
HP:0000481 | HP:0000563 | Keratoconus | 3 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1071 | 2348 | 600140 |
HP:0000481 | HP:0031792 | Irregular astigmatism | 3 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1071 | 2348 | 600140 |
HP:0000481 | HP:0008039 | Subepithelial corneal opacities | 3 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1071 | 2348 | 600140 |
HP:0000481 | HP:0031790 | Mixed astigmatism | 3 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1071 | 2348 | 600140 |
HP:0000481 | HP:0031787 | Oblique astigmatism | 3 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1012 | 2348 | 600140 |
HP:0000481 | HP:0007755 | Juvenile epithelial corneal dystrophy | 3 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1012 | 2348 | 600140 |
HP:0000481 | HP:0012039 | Descemet Membrane Folds | 3 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1012 | 2348 | 600140 |
HP:0000481 | HP:0000584 | Punctate corneal epithelial erosions | 3 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1012 | 2348 | 600140 |
HP:0000481 | HP:0025612 | Corneal astigmatism | 3 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1012 | 2348 | 600140 |
HP:0000481 | HP:0000531 | Corneal crystals | 3 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1012 | 2348 | 600140 |
HP:0000481 | HP:0000563 | Keratoconus | 3 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1012 | 2348 | 600140 |
HP:0000481 | HP:0031792 | Irregular astigmatism | 3 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1012 | 2348 | 600140 |
HP:0000481 | HP:0008039 | Subepithelial corneal opacities | 3 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1012 | 2348 | 600140 |
HP:0000481 | HP:0031790 | Mixed astigmatism | 3 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1012 | 2348 | 600140 |
HP:0000481 | HP:0100690 | Mosaic central corneal dystrophy | 3 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1012 | 2348 | 600140 |
HP:0000481 | HP:0000563 | Keratoconus | 3 | DNAI1 CL E G H | 27019 | 244400 | Kartagener syndrome | 244400 | C0022521 | OMIM | 1 | | 442 | 2954 | 604366 |
HP:0000481 | HP:0031792 | Irregular astigmatism | 3 | DNAI1 CL E G H | 27019 | 244400 | Kartagener syndrome | 244400 | C0022521 | OMIM | 1 | | 442 | 2954 | 604366 |
HP:0000481 | HP:0008039 | Subepithelial corneal opacities | 3 | DNAI1 CL E G H | 27019 | 244400 | Kartagener syndrome | 244400 | C0022521 | OMIM | 1 | | 442 | 2954 | 604366 |
HP:0000481 | HP:0031790 | Mixed astigmatism | 3 | DNAI1 CL E G H | 27019 | 244400 | Kartagener syndrome | 244400 | C0022521 | OMIM | 1 | | 442 | 2954 | 604366 |
HP:0000481 | HP:0100690 | Mosaic central corneal dystrophy | 3 | DNAI1 CL E G H | 27019 | 244400 | Kartagener syndrome | 244400 | C0022521 | OMIM | 1 | | |