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:0006383 | HP:0006383 | Progressive bowing of long bones | 0 | FLNA CL E G H | 2316 | 3754 | ORPHA:1826 | Frontometaphyseal dysplasia | HP:0040283 - Occasional | | | 493 | | |
HP:0006383 | HP:0006383 | Progressive bowing of long bones | 0 | MAP3K7 CL E G H | 6885 | 6859 | ORPHA:1826 | Frontometaphyseal dysplasia | HP:0040283 - Occasional | | | 11 | | |
HP:0006383 | HP:0006383 | Progressive bowing of long bones | 0 | MMP13 CL E G H | 4322 | 7159 | ORPHA:2501 | Metaphyseal chondrodysplasia, Spahr type | | | | 52 | | |
HP:0006383 | HP:0006383 | Progressive bowing of long bones | 0 | MMP13 CL E G H | 4322 | 7159 | OMIM:250400 | Metaphyseal chondrodysplasia, Spahr type | | | | 52 | | |
HP:0006383 | HP:0005891 | Progressive forearm bowing | 1 | CL E G H | | | | | | | | | | |
HP:0006383 | HP:0006409 | Progressive leg bowing | 1 | MMP13 CL E G H | 4322 | 7159 | ORPHA:2501 | Metaphyseal chondrodysplasia, Spahr type | HP:0040281 - Very frequent | | | 52 | | |
HP:0006383 | HP:0006409 | Progressive leg bowing | 1 | MMP13 CL E G H | 4322 | 7159 | OMIM:250400 | Metaphyseal chondrodysplasia, Spahr type | . | | | 52 | | |