Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0000228 | HP:0000228 | Oral cavity telangiectasia | 0 | ACVRL1 CL E G H | 94 | 175 | OMIM:600376 | Telangiectasia, hereditary hemorrhagic, type 2 | | | | 178 | | |
HP:0000228 | HP:0000228 | Oral cavity telangiectasia | 0 | ENG CL E G H | 2022 | 3349 | OMIM:187300 | Telangiectasia, hereditary hemorrhagic, type 1 | | | | 186 | | |
HP:0000228 | HP:0000228 | Oral cavity telangiectasia | 0 | LBR CL E G H | 3930 | 6518 | OMIM:613471 | Reynolds syndrome | | | | 70 | | |
HP:0000228 | HP:0000228 | Oral cavity telangiectasia | 0 | NAGA CL E G H | 4668 | 7631 | ORPHA:79280 | Alpha-N-acetylgalactosaminidase deficiency type 2 | | | | 47 | | |
HP:0000228 | HP:0000228 | Oral cavity telangiectasia | 0 | NAGA CL E G H | 4668 | 7631 | OMIM:609242 | Kanzaki disease | | | | 47 | | |
HP:0000228 | HP:0000214 | Lip telangiectasia | 1 | ACVRL1 CL E G H | 94 | 175 | OMIM:600376 | Telangiectasia, hereditary hemorrhagic, type 2 | . | | | 178 | | |
HP:0000228 | HP:0002707 | Palate telangiectasia | 1 | ACVRL1 CL E G H | 94 | 175 | OMIM:600376 | Telangiectasia, hereditary hemorrhagic, type 2 | . | | | 178 | | |
HP:0000228 | HP:0000227 | Tongue telangiectasia | 1 | ACVRL1 CL E G H | 94 | 175 | OMIM:600376 | Telangiectasia, hereditary hemorrhagic, type 2 | . | | | 178 | | |
HP:0000228 | HP:0002707 | Palate telangiectasia | 1 | ENG CL E G H | 2022 | 3349 | OMIM:187300 | Telangiectasia, hereditary hemorrhagic, type 1 | . | | | 186 | | |
HP:0000228 | HP:0000227 | Tongue telangiectasia | 1 | ENG CL E G H | 2022 | 3349 | OMIM:187300 | Telangiectasia, hereditary hemorrhagic, type 1 | . | | | 186 | | |
HP:0000228 | HP:0000214 | Lip telangiectasia | 1 | ENG CL E G H | 2022 | 3349 | OMIM:187300 | Telangiectasia, hereditary hemorrhagic, type 1 | . | | | 186 | | |
HP:0000228 | HP:0000214 | Lip telangiectasia | 1 | LBR CL E G H | 3930 | 6518 | OMIM:613471 | Reynolds syndrome | . | | | 70 | | |
HP:0000228 | HP:0000214 | Lip telangiectasia | 1 | NAGA CL E G H | 4668 | 7631 | ORPHA:79280 | Alpha-N-acetylgalactosaminidase deficiency type 2 | HP:0040281 - Very frequent | | | 47 | | |
HP:0000228 | HP:0007428 | Telangiectasia of the oral mucosa | 1 | NAGA CL E G H | 4668 | 7631 | ORPHA:79280 | Alpha-N-acetylgalactosaminidase deficiency type 2 | HP:0040281 - Very frequent | | | 47 | | |
HP:0000228 | HP:0000214 | Lip telangiectasia | 1 | NAGA CL E G H | 4668 | 7631 | OMIM:609242 | Kanzaki disease | . | | | 47 | | |
HP:0000228 | HP:0007428 | Telangiectasia of the oral mucosa | 1 | NAGA CL E G H | 4668 | 7631 | OMIM:609242 | Kanzaki disease | . | | | 47 | | |