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:0009839 | HP:0009839 | Osteolytic defects of the distal phalanges of the hand | 0 | BANF1 CL E G H | 8815 | 17397 | OMIM:614008 | Nestor-Guillermo progeria syndrome | . | | | 22 | | |
HP:0009839 | HP:0009839 | Osteolytic defects of the distal phalanges of the hand | 0 | CTSK CL E G H | 1513 | 2536 | OMIM:265800 | PYCNODYSOSTOSIS | . | | | 39 | | |
HP:0009839 | HP:0009839 | Osteolytic defects of the distal phalanges of the hand | 0 | CTSK CL E G H | 1513 | 2536 | ORPHA:763 | Pycnodysostosis | | | | 39 | | |
HP:0009839 | HP:0009839 | Osteolytic defects of the distal phalanges of the hand | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:740 | Hutchinson-Gilford progeria syndrome | HP:0040283 - Occasional | | | 645 | | |
HP:0009839 | HP:0009839 | Osteolytic defects of the distal phalanges of the hand | 0 | LMNA CL E G H | 4000 | 6636 | OMIM:248370 | Mandibuloacral dysplasia | . | | | 645 | | |
HP:0009839 | HP:0009839 | Osteolytic defects of the distal phalanges of the hand | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:90153 | Mandibuloacral dysplasia with type A lipodystrophy | HP:0040281 - Very frequent | | | 645 | | |
HP:0009839 | HP:0009839 | Osteolytic defects of the distal phalanges of the hand | 0 | MTX2 CL E G H | 10651 | 7506 | ORPHA:90153 | Mandibuloacral dysplasia with type A lipodystrophy | HP:0040281 - Very frequent | | | | | |
HP:0009839 | HP:0009839 | Osteolytic defects of the distal phalanges of the hand | 0 | ZMPSTE24 CL E G H | 10269 | 12877 | ORPHA:740 | Hutchinson-Gilford progeria syndrome | HP:0040283 - Occasional | | | 83 | | |
HP:0009839 | HP:0009839 | Osteolytic defects of the distal phalanges of the hand | 0 | ZMPSTE24 CL E G H | 10269 | 12877 | ORPHA:90154 | Mandibuloacral dysplasia with type B lipodystrophy | HP:0040281 - Very frequent | | | 83 | | |
HP:0009839 | HP:0009839 | Osteolytic defects of the distal phalanges of the hand | 0 | ZMPSTE24 CL E G H | 10269 | 12877 | OMIM:608612 | Mandibuloacral dysplasia with type B lipodystrophy | . | | | 83 | | |
HP:0009839 | HP:0009839 | Osteolytic defects of the distal phalanges of the hand | 0 | ZMPSTE24 CL E G H | 10269 | 12877 | OMIM:275210 | Restrictive dermopathy, lethal | | | | 83 | | |
HP:0009839 | HP:0009303 | Osteolytic defects of the distal phalanx of the 4th finger | 1 | CL E G H | | | | | | | | | | |
HP:0009839 | HP:0009242 | Osteolytic defects of the distal phalanx of the 5th finger | 1 | CL E G H | | | | | | | | | | |
HP:0009839 | HP:0009645 | Osteolytic defect of the distal phalanx of the thumb | 1 | CL E G H | | | | | | | | | | |
HP:0009839 | HP:0009561 | Osteolytic defects of the distal phalanx of the 2nd finger | 1 | CL E G H | | | | | | | | | | |
HP:0009839 | HP:0009424 | Osteolytic defects of the distal phalanx of the 3rd finger | 1 | CL E G H | | | | | | | | | | |