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:0100012 | HP:0100012 | Neoplasm of the eye | 0 | NDP CL E G H | 4693 | 649 | | | | ORPHA | 1 | | 263 | 7678 | 300658 |
HP:0100012 | HP:0100012 | Neoplasm of the eye | 0 | NDP CL E G H | 4693 | 649 | | | | ORPHA | 1 | | 245 | 7678 | 300658 |
HP:0100012 | HP:0010568 | Hamartoma of the eye | 1 | NDP CL E G H | 4693 | 649 | | | | ORPHA | 1 | | 263 | 7678 | 300658 |
HP:0100012 | HP:0007716 | Uveal melanoma | 1 | NDP CL E G H | 4693 | 649 | | | | ORPHA | 1 | | 263 | 7678 | 300658 |
HP:0100012 | HP:0010568 | Hamartoma of the eye | 1 | NDP CL E G H | 4693 | 649 | | | | ORPHA | 1 | | 245 | 7678 | 300658 |
HP:0100012 | HP:0007716 | Uveal melanoma | 1 | NDP CL E G H | 4693 | 649 | | | | ORPHA | 1 | | 245 | 7678 | 300658 |
HP:0100012 | HP:0012777 | Retinal neoplasm | 1 | NDP CL E G H | 4693 | 649 | | | | ORPHA | 1 | | 263 | 7678 | 300658 |
HP:0100012 | HP:0100011 | Scleral schwannoma | 1 | NDP CL E G H | 4693 | 649 | | | | ORPHA | 1 | | 263 | 7678 | 300658 |
HP:0100012 | HP:0025604 | Orbital schwannoma | 1 | NDP CL E G H | 4693 | 649 | | | | ORPHA | 1 | | 263 | 7678 | 300658 |
HP:0100012 | HP:0012777 | Retinal neoplasm | 1 | NDP CL E G H | 4693 | 649 | | | | ORPHA | 1 | | 245 | 7678 | 300658 |
HP:0100012 | HP:0100011 | Scleral schwannoma | 1 | NDP CL E G H | 4693 | 649 | | | | ORPHA | 1 | | 245 | 7678 | 300658 |
HP:0100012 | HP:0025604 | Orbital schwannoma | 1 | NDP CL E G H | 4693 | 649 | | | | ORPHA | 1 | | 245 | 7678 | 300658 |
HP:0100012 | HP:0011524 | Iris melanoma | 2 | NDP CL E G H | 4693 | 649 | | | | ORPHA | 1 | | 263 | 7678 | 300658 |
HP:0100012 | HP:0009919 | Retinoblastoma | 2 | NDP CL E G H | 4693 | 649 | | | | ORPHA | 1 | | 263 | 7678 | 300658 |
HP:0100012 | HP:0009594 | Retinal hamartoma | 2 | NDP CL E G H | 4693 | 649 | | | | ORPHA | 1 | | 263 | 7678 | 300658 |
HP:0100012 | HP:0012055 | Ciliary body melanoma | 2 | NDP CL E G H | 4693 | 649 | | | | ORPHA | 1 | | 263 | 7678 | 300658 |
HP:0100012 | HP:0011524 | Iris melanoma | 2 | NDP CL E G H | 4693 | 649 | | | | ORPHA | 1 | | 245 | 7678 | 300658 |
HP:0100012 | HP:0009919 | Retinoblastoma | 2 | NDP CL E G H | 4693 | 649 | | | | ORPHA | 1 | | 245 | 7678 | 300658 |
HP:0100012 | HP:0009594 | Retinal hamartoma | 2 | NDP CL E G H | 4693 | 649 | | | | ORPHA | 1 | | 245 | 7678 | 300658 |
HP:0100012 | HP:0012055 | Ciliary body melanoma | 2 | NDP CL E G H | 4693 | 649 | | | | ORPHA | 1 | | 245 | 7678 | 300658 |
HP:0100012 | HP:0100780 | Conjunctival hamartoma | 2 | NDP CL E G H | 4693 | 649 | | | | ORPHA | 1 | | 263 | 7678 | 300658 |
HP:0100012 | HP:0009737 | Lisch nodules | 2 | NDP CL E G H | 4693 | 649 | | | | ORPHA | 1 | | 263 | 7678 | 300658 |
HP:0100012 | HP:0012054 | Choroidal melanoma | 2 | NDP CL E G H | 4693 | 649 | | | | ORPHA | 1 | | 263 | 7678 | 300658 |
HP:0100012 | HP:0100780 | Conjunctival hamartoma | 2 | NDP CL E G H | 4693 | 649 | | | | ORPHA | 1 | | 245 | 7678 | 300658 |
HP:0100012 | HP:0009737 | Lisch nodules | 2 | NDP CL E G H | 4693 | 649 | | | | ORPHA | 1 | | 245 | 7678 | 300658 |
HP:0100012 | HP:0012054 | Choroidal melanoma | 2 | NDP CL E G H | 4693 | 649 | | | | ORPHA | 1 | | 245 | 7678 | 300658 |
HP:0100012 | HP:0012778 | Retinal astrocytic hamartoma | 3 | NDP CL E G H | 4693 | 649 | | | | ORPHA | 1 | | 263 | 7678 | 300658 |
HP:0100012 | HP:0030508 | Retinal cavernous hemangioma | 3 | NDP CL E G H | 4693 | 649 | | | | ORPHA | 1 | | 263 | 7678 | 300658 |
HP:0100012 | HP:0012778 | Retinal astrocytic hamartoma | 3 | NDP CL E G H | 4693 | 649 | | | | ORPHA | 1 | | 245 | 7678 | 300658 |
HP:0100012 | HP:0030508 | Retinal cavernous hemangioma | 3 | NDP CL E G H | 4693 | 649 | | | | ORPHA | 1 | | 245 | 7678 | 300658 |
HP:0100012 | HP:0030509 | Retinal racemose hemangioma | 3 | NDP CL E G H | 4693 | 649 | | | | ORPHA | 1 | | 263 | 7678 | 300658 |
HP:0100012 | HP:0030510 | Combined hamartoma of the retinal pigment epithelium and retina | 3 | NDP CL E G H | 4693 | 649 | | | | ORPHA | 1 | | 263 | 7678 | 300658 |
HP:0100012 | HP:0009711 | Retinal capillary hemangioma | 3 | NDP CL E G H | 4693 | 649 | | | | ORPHA | 1 | | 263 | 7678 | 300658 |
HP:0100012 | HP:0030510 | Combined hamartoma of the retinal pigment epithelium and retina | 3 | NDP CL E G H | 4693 | 649 | | | | ORPHA | 1 | | 245 | 7678 | 300658 |
HP:0100012 | HP:0009711 | Retinal capillary hemangioma | 3 | NDP CL E G H | 4693 | 649 | | | | ORPHA | 1 | | 245 | 7678 | 300658 |
HP:0100012 | HP:0030509 | Retinal racemose hemangioma | 3 | NDP CL E G H | 4693 | 649 | | | | ORPHA | 1 | | 245 | 7678 | 300658 |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0100012 | HP:0100012 | Neoplasm of the eye | 0 | DDB2 CL E G H | 1643 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 106 | 2718 | 600811 |
HP:0100012 | HP:0100012 | Neoplasm of the eye | 0 | DDB2 CL E G H | 1643 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 100 | 2718 | 600811 |
HP:0100012 | HP:0100012 | Neoplasm of the eye | 0 | ERCC2 CL E G H | 2068 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 479 | 3434 | 126340 |
HP:0100012 | HP:0100012 | Neoplasm of the eye | 0 | ERCC2 CL E G H | 2068 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 360 | 3434 | 126340 |
HP:0100012 | HP:0100012 | Neoplasm of the eye | 0 | ERCC3 CL E G H | 2071 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 283 | 3435 | 133510 |
HP:0100012 | HP:0100012 | Neoplasm of the eye | 0 | ERCC3 CL E G H | 2071 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 186 | 3435 | 133510 |
HP:0100012 | HP:0100012 | Neoplasm of the eye | 0 | ERCC4 CL E G H | 2072 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 538 | 3436 | 133520 |
HP:0100012 | HP:0100012 | Neoplasm of the eye | 0 | ERCC4 CL E G H | 2072 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 469 | 3436 | 133520 |
HP:0100012 | HP:0100012 | Neoplasm of the eye | 0 | ERCC5 CL E G H | 2073 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 374 | 3437 | 133530 |
HP:0100012 | HP:0100012 | Neoplasm of the eye | 0 | ERCC5 CL E G H | 2073 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 361 | 3437 | 133530 |
HP:0100012 | HP:0100012 | Neoplasm of the eye | 0 | XPA CL E G H | 7507 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 231 | 12814 | 611153 |
HP:0100012 | HP:0100012 | Neoplasm of the eye | 0 | XPA CL E G H | 7507 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 221 | 12814 | 611153 |
HP:0100012 | HP:0100012 | Neoplasm of the eye | 0 | XPC CL E G H | 7508 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 545 | 12816 | 613208 |
HP:0100012 | HP:0100012 | Neoplasm of the eye | 0 | XPC CL E G H | 7508 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 518 | 12816 | 613208 |
HP:0100012 | HP:0010568 | Hamartoma of the eye | 1 | DDB2 CL E G H | 1643 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 106 | 2718 | 600811 |
HP:0100012 | HP:0007716 | Uveal melanoma | 1 | DDB2 CL E G H | 1643 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 106 | 2718 | 600811 |
HP:0100012 | HP:0010568 | Hamartoma of the eye | 1 | DDB2 CL E G H | 1643 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 100 | 2718 | 600811 |
HP:0100012 | HP:0007716 | Uveal melanoma | 1 | DDB2 CL E G H | 1643 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 100 | 2718 | 600811 |
HP:0100012 | HP:0012777 | Retinal neoplasm | 1 | DDB2 CL E G H | 1643 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 106 | 2718 | 600811 |
HP:0100012 | HP:0100011 | Scleral schwannoma | 1 | DDB2 CL E G H | 1643 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 106 | 2718 | 600811 |
HP:0100012 | HP:0025604 | Orbital schwannoma | 1 | DDB2 CL E G H | 1643 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 106 | 2718 | 600811 |
HP:0100012 | HP:0012777 | Retinal neoplasm | 1 | DDB2 CL E G H | 1643 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 100 | 2718 | 600811 |
HP:0100012 | HP:0100011 | Scleral schwannoma | 1 | DDB2 CL E G H | 1643 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 100 | 2718 | 600811 |
HP:0100012 | HP:0025604 | Orbital schwannoma | 1 | DDB2 CL E G H | 1643 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 100 | 2718 | 600811 |
HP:0100012 | HP:0010568 | Hamartoma of the eye | 1 | ERCC2 CL E G H | 2068 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 479 | 3434 | 126340 |
HP:0100012 | HP:0007716 | Uveal melanoma | 1 | ERCC2 CL E G H | 2068 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 479 | 3434 | 126340 |
HP:0100012 | HP:0010568 | Hamartoma of the eye | 1 | ERCC2 CL E G H | 2068 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 360 | 3434 | 126340 |
HP:0100012 | HP:0007716 | Uveal melanoma | 1 | ERCC2 CL E G H | 2068 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 360 | 3434 | 126340 |
HP:0100012 | HP:0012777 | Retinal neoplasm | 1 | ERCC2 CL E G H | 2068 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 479 | 3434 | 126340 |
HP:0100012 | HP:0100011 | Scleral schwannoma | 1 | ERCC2 CL E G H | 2068 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 479 | 3434 | 126340 |
HP:0100012 | HP:0025604 | Orbital schwannoma | 1 | ERCC2 CL E G H | 2068 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 479 | 3434 | 126340 |
HP:0100012 | HP:0012777 | Retinal neoplasm | 1 | ERCC2 CL E G H | 2068 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 360 | 3434 | 126340 |
HP:0100012 | HP:0100011 | Scleral schwannoma | 1 | ERCC2 CL E G H | 2068 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 360 | 3434 | 126340 |
HP:0100012 | HP:0025604 | Orbital schwannoma | 1 | ERCC2 CL E G H | 2068 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 360 | 3434 | 126340 |
HP:0100012 | HP:0010568 | Hamartoma of the eye | 1 | ERCC3 CL E G H | 2071 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 283 | 3435 | 133510 |
HP:0100012 | HP:0007716 | Uveal melanoma | 1 | ERCC3 CL E G H | 2071 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 283 | 3435 | 133510 |
HP:0100012 | HP:0010568 | Hamartoma of the eye | 1 | ERCC3 CL E G H | 2071 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 186 | 3435 | 133510 |
HP:0100012 | HP:0007716 | Uveal melanoma | 1 | ERCC3 CL E G H | 2071 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 186 | 3435 | 133510 |
HP:0100012 | HP:0012777 | Retinal neoplasm | 1 | ERCC3 CL E G H | 2071 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 283 | 3435 | 133510 |
HP:0100012 | HP:0100011 | Scleral schwannoma | 1 | ERCC3 CL E G H | 2071 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 283 | 3435 | 133510 |
HP:0100012 | HP:0025604 | Orbital schwannoma | 1 | ERCC3 CL E G H | 2071 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 283 | 3435 | 133510 |
HP:0100012 | HP:0100011 | Scleral schwannoma | 1 | ERCC3 CL E G H | 2071 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 186 | 3435 | 133510 |
HP:0100012 | HP:0025604 | Orbital schwannoma | 1 | ERCC3 CL E G H | 2071 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 186 | 3435 | 133510 |
HP:0100012 | HP:0012777 | Retinal neoplasm | 1 | ERCC3 CL E G H | 2071 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 186 | 3435 | 133510 |
HP:0100012 | HP:0010568 | Hamartoma of the eye | 1 | ERCC4 CL E G H | 2072 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 538 | 3436 | 133520 |
HP:0100012 | HP:0007716 | Uveal melanoma | 1 | ERCC4 CL E G H | 2072 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 538 | 3436 | 133520 |
HP:0100012 | HP:0007716 | Uveal melanoma | 1 | ERCC4 CL E G H | 2072 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 469 | 3436 | 133520 |
HP:0100012 | HP:0010568 | Hamartoma of the eye | 1 | ERCC4 CL E G H | 2072 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 469 | 3436 | 133520 |
HP:0100012 | HP:0100011 | Scleral schwannoma | 1 | ERCC4 CL E G H | 2072 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 538 | 3436 | 133520 |
HP:0100012 | HP:0025604 | Orbital schwannoma | 1 | ERCC4 CL E G H | 2072 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 538 | 3436 | 133520 |
HP:0100012 | HP:0012777 | Retinal neoplasm | 1 | ERCC4 CL E G H | 2072 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 538 | 3436 | 133520 |
HP:0100012 | HP:0100011 | Scleral schwannoma | 1 | ERCC4 CL E G H | 2072 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 469 | 3436 | 133520 |
HP:0100012 | HP:0025604 | Orbital schwannoma | 1 | ERCC4 CL E G H | 2072 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 469 | 3436 | 133520 |
HP:0100012 | HP:0012777 | Retinal neoplasm | 1 | ERCC4 CL E G H | 2072 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 469 | 3436 | 133520 |
HP:0100012 | HP:0007716 | Uveal melanoma | 1 | ERCC5 CL E G H | 2073 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 374 | 3437 | 133530 |
HP:0100012 | HP:0010568 | Hamartoma of the eye | 1 | ERCC5 CL E G H | 2073 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 374 | 3437 | 133530 |
HP:0100012 | HP:0007716 | Uveal melanoma | 1 | ERCC5 CL E G H | 2073 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 361 | 3437 | 133530 |
HP:0100012 | HP:0010568 | Hamartoma of the eye | 1 | ERCC5 CL E G H | 2073 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 361 | 3437 | 133530 |
HP:0100012 | HP:0100011 | Scleral schwannoma | 1 | ERCC5 CL E G H | 2073 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 374 | 3437 | 133530 |
HP:0100012 | HP:0025604 | Orbital schwannoma | 1 | ERCC5 CL E G H | 2073 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 374 | 3437 | 133530 |
HP:0100012 | HP:0012777 | Retinal neoplasm | 1 | ERCC5 CL E G H | 2073 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 374 | 3437 | 133530 |
HP:0100012 | HP:0100011 | Scleral schwannoma | 1 | ERCC5 CL E G H | 2073 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 361 | 3437 | 133530 |
HP:0100012 | HP:0025604 | Orbital schwannoma | 1 | ERCC5 CL E G H | 2073 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 361 | 3437 | 133530 |
HP:0100012 | HP:0012777 | Retinal neoplasm | 1 | ERCC5 CL E G H | 2073 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 361 | 3437 | 133530 |
HP:0100012 | HP:0007716 | Uveal melanoma | 1 | XPA CL E G H | 7507 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 231 | 12814 | 611153 |
HP:0100012 | HP:0010568 | Hamartoma of the eye | 1 | XPA CL E G H | 7507 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 231 | 12814 | 611153 |
HP:0100012 | HP:0007716 | Uveal melanoma | 1 | XPA CL E G H | 7507 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 221 | 12814 | 611153 |
HP:0100012 | HP:0010568 | Hamartoma of the eye | 1 | XPA CL E G H | 7507 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 221 | 12814 | 611153 |
HP:0100012 | HP:0100011 | Scleral schwannoma | 1 | XPA CL E G H | 7507 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 231 | 12814 | 611153 |
HP:0100012 | HP:0025604 | Orbital schwannoma | 1 | XPA CL E G H | 7507 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 231 | 12814 | 611153 |
HP:0100012 | HP:0012777 | Retinal neoplasm | 1 | XPA CL E G H | 7507 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 231 | 12814 | 611153 |
HP:0100012 | HP:0025604 | Orbital schwannoma | 1 | XPA CL E G H | 7507 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 221 | 12814 | 611153 |
HP:0100012 | HP:0012777 | Retinal neoplasm | 1 | XPA CL E G H | 7507 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 221 | 12814 | 611153 |
HP:0100012 | HP:0100011 | Scleral schwannoma | 1 | XPA CL E G H | 7507 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 221 | 12814 | 611153 |
HP:0100012 | HP:0007716 | Uveal melanoma | 1 | XPC CL E G H | 7508 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 545 | 12816 | 613208 |
HP:0100012 | HP:0010568 | Hamartoma of the eye | 1 | XPC CL E G H | 7508 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 545 | 12816 | 613208 |
HP:0100012 | HP:0007716 | Uveal melanoma | 1 | XPC CL E G H | 7508 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 518 | 12816 | 613208 |
HP:0100012 | HP:0010568 | Hamartoma of the eye | 1 | XPC CL E G H | 7508 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 518 | 12816 | 613208 |
HP:0100012 | HP:0025604 | Orbital schwannoma | 1 | XPC CL E G H | 7508 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 545 | 12816 | 613208 |
HP:0100012 | HP:0012777 | Retinal neoplasm | 1 | XPC CL E G H | 7508 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 545 | 12816 | 613208 |
HP:0100012 | HP:0100011 | Scleral schwannoma | 1 | XPC CL E G H | 7508 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 545 | 12816 | 613208 |
HP:0100012 | HP:0025604 | Orbital schwannoma | 1 | XPC CL E G H | 7508 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 518 | 12816 | 613208 |
HP:0100012 | HP:0012777 | Retinal neoplasm | 1 | XPC CL E G H | 7508 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 518 | 12816 | 613208 |
HP:0100012 | HP:0100011 | Scleral schwannoma | 1 | XPC CL E G H | 7508 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 518 | 12816 | 613208 |
HP:0100012 | HP:0011524 | Iris melanoma | 2 | DDB2 CL E G H | 1643 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 106 | 2718 | 600811 |
HP:0100012 | HP:0009919 | Retinoblastoma | 2 | DDB2 CL E G H | 1643 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 106 | 2718 | 600811 |
HP:0100012 | HP:0009594 | Retinal hamartoma | 2 | DDB2 CL E G H | 1643 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 106 | 2718 | 600811 |
HP:0100012 | HP:0012055 | Ciliary body melanoma | 2 | DDB2 CL E G H | 1643 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 106 | 2718 | 600811 |
HP:0100012 | HP:0011524 | Iris melanoma | 2 | DDB2 CL E G H | 1643 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 100 | 2718 | 600811 |
HP:0100012 | HP:0009919 | Retinoblastoma | 2 | DDB2 CL E G H | 1643 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 100 | 2718 | 600811 |
HP:0100012 | HP:0009594 | Retinal hamartoma | 2 | DDB2 CL E G H | 1643 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 100 | 2718 | 600811 |
HP:0100012 | HP:0012055 | Ciliary body melanoma | 2 | DDB2 CL E G H | 1643 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 100 | 2718 | 600811 |
HP:0100012 | HP:0100780 | Conjunctival hamartoma | 2 | DDB2 CL E G H | 1643 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 106 | 2718 | 600811 |
HP:0100012 | HP:0009737 | Lisch nodules | 2 | DDB2 CL E G H | 1643 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 106 | 2718 | 600811 |
HP:0100012 | HP:0012054 | Choroidal melanoma | 2 | DDB2 CL E G H | 1643 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 106 | 2718 | 600811 |
HP:0100012 | HP:0100780 | Conjunctival hamartoma | 2 | DDB2 CL E G H | 1643 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 100 | 2718 | 600811 |
HP:0100012 | HP:0009737 | Lisch nodules | 2 | DDB2 CL E G H | 1643 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 100 | 2718 | 600811 |
HP:0100012 | HP:0012054 | Choroidal melanoma | 2 | DDB2 CL E G H | 1643 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 100 | 2718 | 600811 |
HP:0100012 | HP:0009919 | Retinoblastoma | 2 | ERCC2 CL E G H | 2068 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 479 | 3434 | 126340 |
HP:0100012 | HP:0009594 | Retinal hamartoma | 2 | ERCC2 CL E G H | 2068 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 479 | 3434 | 126340 |
HP:0100012 | HP:0012055 | Ciliary body melanoma | 2 | ERCC2 CL E G H | 2068 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 479 | 3434 | 126340 |
HP:0100012 | HP:0011524 | Iris melanoma | 2 | ERCC2 CL E G H | 2068 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 479 | 3434 | 126340 |
HP:0100012 | HP:0009919 | Retinoblastoma | 2 | ERCC2 CL E G H | 2068 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 360 | 3434 | 126340 |
HP:0100012 | HP:0009594 | Retinal hamartoma | 2 | ERCC2 CL E G H | 2068 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 360 | 3434 | 126340 |
HP:0100012 | HP:0012055 | Ciliary body melanoma | 2 | ERCC2 CL E G H | 2068 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 360 | 3434 | 126340 |
HP:0100012 | HP:0011524 | Iris melanoma | 2 | ERCC2 CL E G H | 2068 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 360 | 3434 | 126340 |
HP:0100012 | HP:0100780 | Conjunctival hamartoma | 2 | ERCC2 CL E G H | 2068 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 479 | 3434 | 126340 |
HP:0100012 | HP:0009737 | Lisch nodules | 2 | ERCC2 CL E G H | 2068 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 479 | 3434 | 126340 |
HP:0100012 | HP:0012054 | Choroidal melanoma | 2 | ERCC2 CL E G H | 2068 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 479 | 3434 | 126340 |
HP:0100012 | HP:0009737 | Lisch nodules | 2 | ERCC2 CL E G H | 2068 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 360 | 3434 | 126340 |
HP:0100012 | HP:0012054 | Choroidal melanoma | 2 | ERCC2 CL E G H | 2068 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 360 | 3434 | 126340 |
HP:0100012 | HP:0100780 | Conjunctival hamartoma | 2 | ERCC2 CL E G H | 2068 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 360 | 3434 | 126340 |
HP:0100012 | HP:0009919 | Retinoblastoma | 2 | ERCC3 CL E G H | 2071 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 283 | 3435 | 133510 |
HP:0100012 | HP:0009594 | Retinal hamartoma | 2 | ERCC3 CL E G H | 2071 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 283 | 3435 | 133510 |
HP:0100012 | HP:0012055 | Ciliary body melanoma | 2 | ERCC3 CL E G H | 2071 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 283 | 3435 | 133510 |
HP:0100012 | HP:0011524 | Iris melanoma | 2 | ERCC3 CL E G H | 2071 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 283 | 3435 | 133510 |
HP:0100012 | HP:0009919 | Retinoblastoma | 2 | ERCC3 CL E G H | 2071 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 186 | 3435 | 133510 |
HP:0100012 | HP:0009594 | Retinal hamartoma | 2 | ERCC3 CL E G H | 2071 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 186 | 3435 | 133510 |
HP:0100012 | HP:0012055 | Ciliary body melanoma | 2 | ERCC3 CL E G H | 2071 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 186 | 3435 | 133510 |
HP:0100012 | HP:0011524 | Iris melanoma | 2 | ERCC3 CL E G H | 2071 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 186 | 3435 | 133510 |
HP:0100012 | HP:0009737 | Lisch nodules | 2 | ERCC3 CL E G H | 2071 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 283 | 3435 | 133510 |
HP:0100012 | HP:0012054 | Choroidal melanoma | 2 | ERCC3 CL E G H | 2071 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 283 | 3435 | 133510 |
HP:0100012 | HP:0100780 | Conjunctival hamartoma | 2 | ERCC3 CL E G H | 2071 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 283 | 3435 | 133510 |
HP:0100012 | HP:0009737 | Lisch nodules | 2 | ERCC3 CL E G H | 2071 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 186 | 3435 | 133510 |
HP:0100012 | HP:0012054 | Choroidal melanoma | 2 | ERCC3 CL E G H | 2071 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 186 | 3435 | 133510 |
HP:0100012 | HP:0100780 | Conjunctival hamartoma | 2 | ERCC3 CL E G H | 2071 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 186 | 3435 | 133510 |
HP:0100012 | HP:0009919 | Retinoblastoma | 2 | ERCC4 CL E G H | 2072 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 538 | 3436 | 133520 |
HP:0100012 | HP:0009594 | Retinal hamartoma | 2 | ERCC4 CL E G H | 2072 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 538 | 3436 | 133520 |
HP:0100012 | HP:0012055 | Ciliary body melanoma | 2 | ERCC4 CL E G H | 2072 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 538 | 3436 | 133520 |
HP:0100012 | HP:0011524 | Iris melanoma | 2 | ERCC4 CL E G H | 2072 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 538 | 3436 | 133520 |
HP:0100012 | HP:0009919 | Retinoblastoma | 2 | ERCC4 CL E G H | 2072 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 469 | 3436 | 133520 |
HP:0100012 | HP:0009594 | Retinal hamartoma | 2 | ERCC4 CL E G H | 2072 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 469 | 3436 | 133520 |
HP:0100012 | HP:0012055 | Ciliary body melanoma | 2 | ERCC4 CL E G H | 2072 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 469 | 3436 | 133520 |
HP:0100012 | HP:0011524 | Iris melanoma | 2 | ERCC4 CL E G H | 2072 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 469 | 3436 | 133520 |
HP:0100012 | HP:0009737 | Lisch nodules | 2 | ERCC4 CL E G H | 2072 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 538 | 3436 | 133520 |
HP:0100012 | HP:0012054 | Choroidal melanoma | 2 | ERCC4 CL E G H | 2072 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 538 | 3436 | 133520 |
HP:0100012 | HP:0100780 | Conjunctival hamartoma | 2 | ERCC4 CL E G H | 2072 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 538 | 3436 | 133520 |
HP:0100012 | HP:0009737 | Lisch nodules | 2 | ERCC4 CL E G H | 2072 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 469 | 3436 | 133520 |
HP:0100012 | HP:0012054 | Choroidal melanoma | 2 | ERCC4 CL E G H | 2072 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 469 | 3436 | 133520 |
HP:0100012 | HP:0100780 | Conjunctival hamartoma | 2 | ERCC4 CL E G H | 2072 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 469 | 3436 | 133520 |
HP:0100012 | HP:0009919 | Retinoblastoma | 2 | ERCC5 CL E G H | 2073 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 374 | 3437 | 133530 |
HP:0100012 | HP:0009594 | Retinal hamartoma | 2 | ERCC5 CL E G H | 2073 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 374 | 3437 | 133530 |
HP:0100012 | HP:0012055 | Ciliary body melanoma | 2 | ERCC5 CL E G H | 2073 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 374 | 3437 | 133530 |
HP:0100012 | HP:0011524 | Iris melanoma | 2 | ERCC5 CL E G H | 2073 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 374 | 3437 | 133530 |
HP:0100012 | HP:0009594 | Retinal hamartoma | 2 | ERCC5 CL E G H | 2073 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 361 | 3437 | 133530 |
HP:0100012 | HP:0012055 | Ciliary body melanoma | 2 | ERCC5 CL E G H | 2073 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 361 | 3437 | 133530 |
HP:0100012 | HP:0011524 | Iris melanoma | 2 | ERCC5 CL E G H | 2073 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 361 | 3437 | 133530 |
HP:0100012 | HP:0009919 | Retinoblastoma | 2 | ERCC5 CL E G H | 2073 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 361 | 3437 | 133530 |
HP:0100012 | HP:0009737 | Lisch nodules | 2 | ERCC5 CL E G H | 2073 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 374 | 3437 | 133530 |
HP:0100012 | HP:0012054 | Choroidal melanoma | 2 | ERCC5 CL E G H | 2073 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 374 | 3437 | 133530 |
HP:0100012 | HP:0100780 | Conjunctival hamartoma | 2 | ERCC5 CL E G H | 2073 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 374 | 3437 | 133530 |
HP:0100012 | HP:0012054 | Choroidal melanoma | 2 | ERCC5 CL E G H | 2073 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 361 | 3437 | 133530 |
HP:0100012 | HP:0100780 | Conjunctival hamartoma | 2 | ERCC5 CL E G H | 2073 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 361 | 3437 | 133530 |
HP:0100012 | HP:0009737 | Lisch nodules | 2 | ERCC5 CL E G H | 2073 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 361 | 3437 | 133530 |
HP:0100012 | HP:0009594 | Retinal hamartoma | 2 | XPA CL E G H | 7507 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 231 | 12814 | 611153 |
HP:0100012 | HP:0012055 | Ciliary body melanoma | 2 | XPA CL E G H | 7507 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 231 | 12814 | 611153 |
HP:0100012 | HP:0011524 | Iris melanoma | 2 | XPA CL E G H | 7507 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 231 | 12814 | 611153 |
HP:0100012 | HP:0009919 | Retinoblastoma | 2 | XPA CL E G H | 7507 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 231 | 12814 | 611153 |
HP:0100012 | HP:0009594 | Retinal hamartoma | 2 | XPA CL E G H | 7507 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 221 | 12814 | 611153 |
HP:0100012 | HP:0012055 | Ciliary body melanoma | 2 | XPA CL E G H | 7507 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 221 | 12814 | 611153 |
HP:0100012 | HP:0011524 | Iris melanoma | 2 | XPA CL E G H | 7507 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 221 | 12814 | 611153 |
HP:0100012 | HP:0009919 | Retinoblastoma | 2 | XPA CL E G H | 7507 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 221 | 12814 | 611153 |
HP:0100012 | HP:0012054 | Choroidal melanoma | 2 | XPA CL E G H | 7507 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 231 | 12814 | 611153 |
HP:0100012 | HP:0100780 | Conjunctival hamartoma | 2 | XPA CL E G H | 7507 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 231 | 12814 | 611153 |
HP:0100012 | HP:0009737 | Lisch nodules | 2 | XPA CL E G H | 7507 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 231 | 12814 | 611153 |
HP:0100012 | HP:0012054 | Choroidal melanoma | 2 | XPA CL E G H | 7507 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 221 | 12814 | 611153 |
HP:0100012 | HP:0100780 | Conjunctival hamartoma | 2 | XPA CL E G H | 7507 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 221 | 12814 | 611153 |
HP:0100012 | HP:0009737 | Lisch nodules | 2 | XPA CL E G H | 7507 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 221 | 12814 | 611153 |
HP:0100012 | HP:0009594 | Retinal hamartoma | 2 | XPC CL E G H | 7508 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 545 | 12816 | 613208 |
HP:0100012 | HP:0012055 | Ciliary body melanoma | 2 | XPC CL E G H | 7508 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 545 | 12816 | 613208 |
HP:0100012 | HP:0011524 | Iris melanoma | 2 | XPC CL E G H | 7508 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 545 | 12816 | 613208 |
HP:0100012 | HP:0009919 | Retinoblastoma | 2 | XPC CL E G H | 7508 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 545 | 12816 | 613208 |
HP:0100012 | HP:0012055 | Ciliary body melanoma | 2 | XPC CL E G H | 7508 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 518 | 12816 | 613208 |
HP:0100012 | HP:0011524 | Iris melanoma | 2 | XPC CL E G H | 7508 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 518 | 12816 | 613208 |
HP:0100012 | HP:0009919 | Retinoblastoma | 2 | XPC CL E G H | 7508 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 518 | 12816 | 613208 |
HP:0100012 | HP:0009594 | Retinal hamartoma | 2 | XPC CL E G H | 7508 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 518 | 12816 | 613208 |
HP:0100012 | HP:0012054 | Choroidal melanoma | 2 | XPC CL E G H | 7508 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 545 | 12816 | 613208 |
HP:0100012 | HP:0100780 | Conjunctival hamartoma | 2 | XPC CL E G H | 7508 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 545 | 12816 | 613208 |
HP:0100012 | HP:0009737 | Lisch nodules | 2 | XPC CL E G H | 7508 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 545 | 12816 | 613208 |
HP:0100012 | HP:0012054 | Choroidal melanoma | 2 | XPC CL E G H | 7508 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 518 | 12816 | 613208 |
HP:0100012 | HP:0100780 | Conjunctival hamartoma | 2 | XPC CL E G H | 7508 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 518 | 12816 | 613208 |
HP:0100012 | HP:0009737 | Lisch nodules | 2 | XPC CL E G H | 7508 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 518 | 12816 | 613208 |
HP:0100012 | HP:0012778 | Retinal astrocytic hamartoma | 3 | DDB2 CL E G H | 1643 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 106 | 2718 | 600811 |
HP:0100012 | HP:0030508 | Retinal cavernous hemangioma | 3 | DDB2 CL E G H | 1643 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 106 | 2718 | 600811 |
HP:0100012 | HP:0012778 | Retinal astrocytic hamartoma | 3 | DDB2 CL E G H | 1643 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 100 | 2718 | 600811 |
HP:0100012 | HP:0030508 | Retinal cavernous hemangioma | 3 | DDB2 CL E G H | 1643 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 100 | 2718 | 600811 |
HP:0100012 | HP:0030510 | Combined hamartoma of the retinal pigment epithelium and retina | 3 | DDB2 CL E G H | 1643 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 106 | 2718 | 600811 |
HP:0100012 | HP:0009711 | Retinal capillary hemangioma | 3 | DDB2 CL E G H | 1643 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 106 | 2718 | 600811 |
HP:0100012 | HP:0030509 | Retinal racemose hemangioma | 3 | DDB2 CL E G H | 1643 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 106 | 2718 | 600811 |
HP:0100012 | HP:0030510 | Combined hamartoma of the retinal pigment epithelium and retina | 3 | DDB2 CL E G H | 1643 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 100 | 2718 | 600811 |
HP:0100012 | HP:0009711 | Retinal capillary hemangioma | 3 | DDB2 CL E G H | 1643 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 100 | 2718 | 600811 |
HP:0100012 | HP:0030509 | Retinal racemose hemangioma | 3 | DDB2 CL E G H | 1643 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 100 | 2718 | 600811 |
HP:0100012 | HP:0012778 | Retinal astrocytic hamartoma | 3 | ERCC2 CL E G H | 2068 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 479 | 3434 | 126340 |
HP:0100012 | HP:0030508 | Retinal cavernous hemangioma | 3 | ERCC2 CL E G H | 2068 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 479 | 3434 | 126340 |
HP:0100012 | HP:0012778 | Retinal astrocytic hamartoma | 3 | ERCC2 CL E G H | 2068 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 360 | 3434 | 126340 |
HP:0100012 | HP:0030508 | Retinal cavernous hemangioma | 3 | ERCC2 CL E G H | 2068 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 360 | 3434 | 126340 |
HP:0100012 | HP:0030510 | Combined hamartoma of the retinal pigment epithelium and retina | 3 | ERCC2 CL E G H | 2068 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 479 | 3434 | 126340 |
HP:0100012 | HP:0009711 | Retinal capillary hemangioma | 3 | ERCC2 CL E G H | 2068 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 479 | 3434 | 126340 |
HP:0100012 | HP:0030509 | Retinal racemose hemangioma | 3 | ERCC2 CL E G H | 2068 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 479 | 3434 | 126340 |
HP:0100012 | HP:0030510 | Combined hamartoma of the retinal pigment epithelium and retina | 3 | ERCC2 CL E G H | 2068 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 360 | 3434 | 126340 |
HP:0100012 | HP:0009711 | Retinal capillary hemangioma | 3 | ERCC2 CL E G H | 2068 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 360 | 3434 | 126340 |
HP:0100012 | HP:0030509 | Retinal racemose hemangioma | 3 | ERCC2 CL E G H | 2068 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 360 | 3434 | 126340 |
HP:0100012 | HP:0012778 | Retinal astrocytic hamartoma | 3 | ERCC3 CL E G H | 2071 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 283 | 3435 | 133510 |
HP:0100012 | HP:0030508 | Retinal cavernous hemangioma | 3 | ERCC3 CL E G H | 2071 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 283 | 3435 | 133510 |
HP:0100012 | HP:0012778 | Retinal astrocytic hamartoma | 3 | ERCC3 CL E G H | 2071 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 186 | 3435 | 133510 |
HP:0100012 | HP:0030508 | Retinal cavernous hemangioma | 3 | ERCC3 CL E G H | 2071 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 186 | 3435 | 133510 |
HP:0100012 | HP:0030510 | Combined hamartoma of the retinal pigment epithelium and retina | 3 | ERCC3 CL E G H | 2071 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 283 | 3435 | 133510 |
HP:0100012 | HP:0009711 | Retinal capillary hemangioma | 3 | ERCC3 CL E G H | 2071 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 283 | 3435 | 133510 |
HP:0100012 | HP:0030509 | Retinal racemose hemangioma | 3 | ERCC3 CL E G H | 2071 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 283 | 3435 | 133510 |
HP:0100012 | HP:0030510 | Combined hamartoma of the retinal pigment epithelium and retina | 3 | ERCC3 CL E G H | 2071 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 186 | 3435 | 133510 |
HP:0100012 | HP:0009711 | Retinal capillary hemangioma | 3 | ERCC3 CL E G H | 2071 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 186 | 3435 | 133510 |
HP:0100012 | HP:0030509 | Retinal racemose hemangioma | 3 | ERCC3 CL E G H | 2071 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 186 | 3435 | 133510 |
HP:0100012 | HP:0012778 | Retinal astrocytic hamartoma | 3 | ERCC4 CL E G H | 2072 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 538 | 3436 | 133520 |
HP:0100012 | HP:0030508 | Retinal cavernous hemangioma | 3 | ERCC4 CL E G H | 2072 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 538 | 3436 | 133520 |
HP:0100012 | HP:0012778 | Retinal astrocytic hamartoma | 3 | ERCC4 CL E G H | 2072 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 469 | 3436 | 133520 |
HP:0100012 | HP:0030508 | Retinal cavernous hemangioma | 3 | ERCC4 CL E G H | 2072 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 469 | 3436 | 133520 |
HP:0100012 | HP:0030510 | Combined hamartoma of the retinal pigment epithelium and retina | 3 | ERCC4 CL E G H | 2072 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 538 | 3436 | 133520 |
HP:0100012 | HP:0009711 | Retinal capillary hemangioma | 3 | ERCC4 CL E G H | 2072 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 538 | 3436 | 133520 |
HP:0100012 | HP:0030509 | Retinal racemose hemangioma | 3 | ERCC4 CL E G H | 2072 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 538 | 3436 | 133520 |
HP:0100012 | HP:0030510 | Combined hamartoma of the retinal pigment epithelium and retina | 3 | ERCC4 CL E G H | 2072 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 469 | 3436 | 133520 |
HP:0100012 | HP:0009711 | Retinal capillary hemangioma | 3 | ERCC4 CL E G H | 2072 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 469 | 3436 | 133520 |
HP:0100012 | HP:0030509 | Retinal racemose hemangioma | 3 | ERCC4 CL E G H | 2072 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 469 | 3436 | 133520 |
HP:0100012 | HP:0012778 | Retinal astrocytic hamartoma | 3 | ERCC5 CL E G H | 2073 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 374 | 3437 | 133530 |
HP:0100012 | HP:0030508 | Retinal cavernous hemangioma | 3 | ERCC5 CL E G H | 2073 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 374 | 3437 | 133530 |
HP:0100012 | HP:0012778 | Retinal astrocytic hamartoma | 3 | ERCC5 CL E G H | 2073 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 361 | 3437 | 133530 |
HP:0100012 | HP:0030508 | Retinal cavernous hemangioma | 3 | ERCC5 CL E G H | 2073 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 361 | 3437 | 133530 |
HP:0100012 | HP:0030510 | Combined hamartoma of the retinal pigment epithelium and retina | 3 | ERCC5 CL E G H | 2073 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 374 | 3437 | 133530 |
HP:0100012 | HP:0009711 | Retinal capillary hemangioma | 3 | ERCC5 CL E G H | 2073 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 374 | 3437 | 133530 |
HP:0100012 | HP:0030509 | Retinal racemose hemangioma | 3 | ERCC5 CL E G H | 2073 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 374 | 3437 | 133530 |
HP:0100012 | HP:0030510 | Combined hamartoma of the retinal pigment epithelium and retina | 3 | ERCC5 CL E G H | 2073 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 361 | 3437 | 133530 |
HP:0100012 | HP:0009711 | Retinal capillary hemangioma | 3 | ERCC5 CL E G H | 2073 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 361 | 3437 | 133530 |
HP:0100012 | HP:0030509 | Retinal racemose hemangioma | 3 | ERCC5 CL E G H | 2073 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 361 | 3437 | 133530 |
HP:0100012 | HP:0012778 | Retinal astrocytic hamartoma | 3 | XPA CL E G H | 7507 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 231 | 12814 | 611153 |
HP:0100012 | HP:0030508 | Retinal cavernous hemangioma | 3 | XPA CL E G H | 7507 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 231 | 12814 | 611153 |
HP:0100012 | HP:0012778 | Retinal astrocytic hamartoma | 3 | XPA CL E G H | 7507 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 221 | 12814 | 611153 |
HP:0100012 | HP:0030508 | Retinal cavernous hemangioma | 3 | XPA CL E G H | 7507 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 221 | 12814 | 611153 |
HP:0100012 | HP:0030510 | Combined hamartoma of the retinal pigment epithelium and retina | 3 | XPA CL E G H | 7507 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 231 | 12814 | 611153 |
HP:0100012 | HP:0009711 | Retinal capillary hemangioma | 3 | XPA CL E G H | 7507 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 231 | 12814 | 611153 |
HP:0100012 | HP:0030509 | Retinal racemose hemangioma | 3 | XPA CL E G H | 7507 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 231 | 12814 | 611153 |
HP:0100012 | HP:0030510 | Combined hamartoma of the retinal pigment epithelium and retina | 3 | XPA CL E G H | 7507 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 221 | 12814 | 611153 |
HP:0100012 | HP:0009711 | Retinal capillary hemangioma | 3 | XPA CL E G H | 7507 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 221 | 12814 | 611153 |
HP:0100012 | HP:0030509 | Retinal racemose hemangioma | 3 | XPA CL E G H | 7507 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 221 | 12814 | 611153 |
HP:0100012 | HP:0012778 | Retinal astrocytic hamartoma | 3 | XPC CL E G H | 7508 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 545 | 12816 | 613208 |
HP:0100012 | HP:0030508 | Retinal cavernous hemangioma | 3 | XPC CL E G H | 7508 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 545 | 12816 | 613208 |
HP:0100012 | HP:0012778 | Retinal astrocytic hamartoma | 3 | XPC CL E G H | 7508 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 518 | 12816 | 613208 |
HP:0100012 | HP:0030508 | Retinal cavernous hemangioma | 3 | XPC CL E G H | 7508 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 518 | 12816 | 613208 |
HP:0100012 | HP:0030510 | Combined hamartoma of the retinal pigment epithelium and retina | 3 | XPC CL E G H | 7508 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 545 | 12816 | 613208 |
HP:0100012 | HP:0009711 | Retinal capillary hemangioma | 3 | XPC CL E G H | 7508 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 545 | 12816 | 613208 |
HP:0100012 | HP:0030509 | Retinal racemose hemangioma | 3 | XPC CL E G H | 7508 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 545 | 12816 | 613208 |
HP:0100012 | HP:0030510 | Combined hamartoma of the retinal pigment epithelium and retina | 3 | XPC CL E G H | 7508 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 518 | 12816 | 613208 |
HP:0100012 | HP:0009711 | Retinal capillary hemangioma | 3 | XPC CL E G H | 7508 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 518 | 12816 | 613208 |
HP:0100012 | HP:0030509 | Retinal racemose hemangioma | 3 | XPC CL E G H | 7508 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 518 | 12816 | 613208 |