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:0009881 | HP:0009881 | Aplasia of the distal phalanges of the hand | 0 | FIG4 CL E G H | 9896 | 16873 | OMIM:216340 | Yunis-Varon syndrome | | | | 111 | | |
HP:0009881 | HP:0009881 | Aplasia of the distal phalanges of the hand | 0 | FIG4 CL E G H | 9896 | 16873 | ORPHA:3472 | Yunis-Varon syndrome | HP:0040281 - Very frequent | | | 111 | | |
HP:0009881 | HP:0009881 | Aplasia of the distal phalanges of the hand | 0 | NSDHL CL E G H | 50814 | 13398 | OMIM:308050 | Congenital hemidysplasia with ichthyosiform erythroderma and limb defects | | | | 34 | | |
HP:0009881 | HP:0009881 | Aplasia of the distal phalanges of the hand | 0 | VAC14 CL E G H | 55697 | 25507 | ORPHA:3472 | Yunis-Varon syndrome | HP:0040281 - Very frequent | | | 6 | | |
HP:0009881 | HP:0009246 | Aplasia of the distal phalanx of the 5th finger | 1 | CL E G H | | | | | | | | | | |
HP:0009881 | HP:0009649 | Aplasia of the distal phalanx of the thumb | 1 | CL E G H | | | | | | | | | | |
HP:0009881 | HP:0009291 | Aplasia of the distal phalanx of the 4th finger | 1 | CL E G H | | | | | | | | | | |
HP:0009881 | HP:0009565 | Aplasia of the distal phalanx of the 2nd finger | 1 | FIG4 CL E G H | 9896 | 16873 | OMIM:216340 | Yunis-Varon syndrome | | | | 111 | | |
HP:0009881 | HP:0009565 | Aplasia of the distal phalanx of the 2nd finger | 1 | NSDHL CL E G H | 50814 | 13398 | OMIM:308050 | Congenital hemidysplasia with ichthyosiform erythroderma and limb defects | | | | 34 | | |
HP:0009881 | HP:0009429 | Aplasia of the distal phalanx of the 3rd finger | 1 | NSDHL CL E G H | 50814 | 13398 | OMIM:308050 | Congenital hemidysplasia with ichthyosiform erythroderma and limb defects | | | | 34 | | |