| Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
|---|
HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
| HP:0010189 | HP:0010189 | Osteolytic defects of the distal phalanges of the toes | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:280365 | Autosomal semi-dominant severe lipodystrophic laminopathy | | | | 645 | | |
| HP:0010189 | HP:0010189 | Osteolytic defects of the distal phalanges of the toes | 0 | LMNA CL E G H | 4000 | 6636 | OMIM:248370 | Mandibuloacral dysplasia | | | | 645 | | |
| HP:0010189 | HP:0010189 | Osteolytic defects of the distal phalanges of the toes | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:90153 | Mandibuloacral dysplasia with type A lipodystrophy | | | | 645 | | |
| HP:0010189 | HP:0010189 | Osteolytic defects of the distal phalanges of the toes | 0 | MTX2 CL E G H | 10651 | 7506 | ORPHA:90153 | Mandibuloacral dysplasia with type A lipodystrophy | | | | | | |
| HP:0010189 | HP:0010189 | Osteolytic defects of the distal phalanges of the toes | 0 | ZMPSTE24 CL E G H | 10269 | 12877 | OMIM:608612 | Mandibuloacral dysplasia with type B lipodystrophy | | | | 83 | | |
| HP:0010189 | HP:0010189 | Osteolytic defects of the distal phalanges of the toes | 0 | ZMPSTE24 CL E G H | 10269 | 12877 | ORPHA:90154 | Mandibuloacral dysplasia with type B lipodystrophy | | | | 83 | | |
| HP:0010189 | HP:0010080 | Osteolytic defects of the distal phalanx of the hallux | 1 | CL E G H | | | | | | | | | | |
| HP:0010189 | HP:0001870 | Acroosteolysis of distal phalanges (feet) | 1 | LMNA CL E G H | 4000 | 6636 | ORPHA:280365 | Autosomal semi-dominant severe lipodystrophic laminopathy | HP:0040282 - Frequent | | | 645 | | |
| HP:0010189 | HP:0001870 | Acroosteolysis of distal phalanges (feet) | 1 | LMNA CL E G H | 4000 | 6636 | OMIM:248370 | Mandibuloacral dysplasia | . | | | 645 | | |
| HP:0010189 | HP:0001870 | Acroosteolysis of distal phalanges (feet) | 1 | LMNA CL E G H | 4000 | 6636 | ORPHA:90153 | Mandibuloacral dysplasia with type A lipodystrophy | HP:0040281 - Very frequent | | | 645 | | |
| HP:0010189 | HP:0001870 | Acroosteolysis of distal phalanges (feet) | 1 | MTX2 CL E G H | 10651 | 7506 | ORPHA:90153 | Mandibuloacral dysplasia with type A lipodystrophy | HP:0040281 - Very frequent | | | | | |
| HP:0010189 | HP:0001870 | Acroosteolysis of distal phalanges (feet) | 1 | ZMPSTE24 CL E G H | 10269 | 12877 | OMIM:608612 | Mandibuloacral dysplasia with type B lipodystrophy | . | | | 83 | | |
| HP:0010189 | HP:0001870 | Acroosteolysis of distal phalanges (feet) | 1 | ZMPSTE24 CL E G H | 10269 | 12877 | ORPHA:90154 | Mandibuloacral dysplasia with type B lipodystrophy | HP:0040281 - Very frequent | | | 83 | | |
