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:0009318 | HP:0009318 | Aplasia/Hypoplasia of the 3rd finger | 0 | COL2A1 CL E G H | 1280 | 2200 | OMIM:271700 | Spondyloperipheral dysplasia | | | | 284 | | |
HP:0009318 | HP:0009318 | Aplasia/Hypoplasia of the 3rd finger | 0 | EN1 CL E G H | 2019 | 3342 | OMIM:619218 | ENDOVE SYNDROME, LIMB-BRAIN TYPE; ENDOVESLB | | | | 1 | | |
HP:0009318 | HP:0009318 | Aplasia/Hypoplasia of the 3rd finger | 0 | GDF5 CL E G H | 8200 | 4220 | OMIM:615072 | Brachydactyly, type A1, C | | | | 52 | | |
HP:0009318 | HP:0009318 | Aplasia/Hypoplasia of the 3rd finger | 0 | GDF5 CL E G H | 8200 | 4220 | OMIM:113100 | Brachydactyly, type C | | | | 52 | | |
HP:0009318 | HP:0009318 | Aplasia/Hypoplasia of the 3rd finger | 0 | GNAS CL E G H | 2778 | 4392 | ORPHA:79445 | Pseudopseudohypoparathyroidism | | | | 101 | | |
HP:0009318 | HP:0009318 | Aplasia/Hypoplasia of the 3rd finger | 0 | NSDHL CL E G H | 50814 | 13398 | OMIM:308050 | Congenital hemidysplasia with ichthyosiform erythroderma and limb defects | | | | 34 | | |
HP:0009318 | HP:0009318 | Aplasia/Hypoplasia of the 3rd finger | 0 | TBX3 CL E G H | 6926 | 11602 | OMIM:181450 | Ulnar-Mammary syndrome | | | | 100 | | |
HP:0009318 | HP:0009461 | Short 3rd finger | 1 | COL2A1 CL E G H | 1280 | 2200 | OMIM:271700 | Spondyloperipheral dysplasia | | | | 284 | | |
HP:0009318 | HP:0009460 | Aplasia of the 3rd finger | 1 | EN1 CL E G H | 2019 | 3342 | OMIM:619218 | ENDOVE SYNDROME, LIMB-BRAIN TYPE; ENDOVESLB | | | | 1 | | |
HP:0009318 | HP:0009461 | Short 3rd finger | 1 | GDF5 CL E G H | 8200 | 4220 | OMIM:615072 | Brachydactyly, type A1, C | | | | 52 | | |
HP:0009318 | HP:0009461 | Short 3rd finger | 1 | GDF5 CL E G H | 8200 | 4220 | OMIM:113100 | Brachydactyly, type C | HP:0040281 - Very frequent | | | 52 | | |
HP:0009318 | HP:0009461 | Short 3rd finger | 1 | GNAS CL E G H | 2778 | 4392 | ORPHA:79445 | Pseudopseudohypoparathyroidism | | | | 101 | | |
HP:0009318 | HP:0009460 | Aplasia of the 3rd finger | 1 | NSDHL CL E G H | 50814 | 13398 | OMIM:308050 | Congenital hemidysplasia with ichthyosiform erythroderma and limb defects | | | | 34 | | |
HP:0009318 | HP:0009460 | Aplasia of the 3rd finger | 1 | TBX3 CL E G H | 6926 | 11602 | OMIM:181450 | Ulnar-Mammary syndrome | | | | 100 | | |
HP:0009318 | HP:0009459 | Short proximal phalanx of the 3rd finger | 2 | CL E G H | | | | | | | | | | |
HP:0009318 | HP:0009458 | Aplasia of the proximal phalanx of the 3rd finger | 2 | CL E G H | | | | | | | | | | |
HP:0009318 | HP:0004180 | Short distal phalanx of the 3rd finger | 2 | COL2A1 CL E G H | 1280 | 2200 | OMIM:271700 | Spondyloperipheral dysplasia | . | | | 284 | | |
HP:0009318 | HP:0009439 | Short middle phalanx of the 3rd finger | 2 | GDF5 CL E G H | 8200 | 4220 | OMIM:615072 | Brachydactyly, type A1, C | | | | 52 | | |
HP:0009318 | HP:0009439 | Short middle phalanx of the 3rd finger | 2 | GDF5 CL E G H | 8200 | 4220 | OMIM:113100 | Brachydactyly, type C | | | | 52 | | |
HP:0009318 | HP:0004180 | Short distal phalanx of the 3rd finger | 2 | GNAS CL E G H | 2778 | 4392 | ORPHA:79445 | Pseudopseudohypoparathyroidism | HP:0040283 - Occasional | | | 101 | | |
HP:0009318 | HP:0009438 | Absent middle phalanx of 3rd finger | 2 | NSDHL CL E G H | 50814 | 13398 | OMIM:308050 | Congenital hemidysplasia with ichthyosiform erythroderma and limb defects | | | | 34 | | |
HP:0009318 | HP:0009429 | Aplasia of the distal phalanx of the 3rd finger | 2 | NSDHL CL E G H | 50814 | 13398 | OMIM:308050 | Congenital hemidysplasia with ichthyosiform erythroderma and limb defects | | | | 34 | | |