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:0001495 | HP:0001495 | Carpal osteolysis | 0 | MAFB CL E G H | 9935 | 6408 | ORPHA:2774 | Multicentric carpo-tarsal osteolysis with or without nephropathy | HP:0040281 - Very frequent | | | 63 | | |
HP:0001495 | HP:0001495 | Carpal osteolysis | 0 | MAFB CL E G H | 9935 | 6408 | OMIM:166300 | Multicentric carpotarsal osteolysis syndrome | . | | | 63 | | |
HP:0001495 | HP:0001495 | Carpal osteolysis | 0 | MMP14 CL E G H | 4323 | 7160 | ORPHA:371428 | Multicentric osteolysis-nodulosis-arthropathy spectrum | HP:0040281 - Very frequent | | | 2 | | |
HP:0001495 | HP:0001495 | Carpal osteolysis | 0 | MMP14 CL E G H | 4323 | 7160 | OMIM:277950 | Winchester syndrome | | | | 2 | | |
HP:0001495 | HP:0001495 | Carpal osteolysis | 0 | MMP2 CL E G H | 4313 | 7166 | OMIM:259600 | Multicentric osteolysis, nodulosis, and arthropathy | | | | 64 | | |
HP:0001495 | HP:0001495 | Carpal osteolysis | 0 | MMP2 CL E G H | 4313 | 7166 | ORPHA:371428 | Multicentric osteolysis-nodulosis-arthropathy spectrum | HP:0040281 - Very frequent | | | 64 | | |
HP:0001495 | HP:0004238 | Lytic defects of carpal bones | 1 | CL E G H | | | | | | | | | | |