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:0100593 | HP:0100593 | Calcification of cartilage | 0 | ABCC6 CL E G H | 368 | 57 | ORPHA:51608 | Generalized arterial calcification of infancy | | | | 415 | | |
HP:0100593 | HP:0100593 | Calcification of cartilage | 0 | ANKH CL E G H | 56172 | 15492 | ORPHA:1416 | Familial calcium pyrophosphate deposition | HP:0040281 - Very frequent | | | 164 | | |
HP:0100593 | HP:0100593 | Calcification of cartilage | 0 | DDR2 CL E G H | 4921 | 2731 | OMIM:271665 | Spondylometaepiphyseal dysplasia, short Limb-Hand type | | | | 45 | | |
HP:0100593 | HP:0100593 | Calcification of cartilage | 0 | ENPP1 CL E G H | 5167 | 3356 | ORPHA:51608 | Generalized arterial calcification of infancy | | | | 151 | | |
HP:0100593 | HP:0100593 | Calcification of cartilage | 0 | HGD CL E G H | 3081 | 4892 | ORPHA:56 | Alkaptonuria | HP:0040281 - Very frequent | | | 77 | | |
HP:0100593 | HP:0100593 | Calcification of cartilage | 0 | LBR CL E G H | 3930 | 6518 | OMIM:215140 | Greenberg dysplasia | | | | 70 | | |
HP:0100593 | HP:0100593 | Calcification of cartilage | 0 | MGP CL E G H | 4256 | 7060 | ORPHA:85202 | Keutel syndrome | HP:0040281 - Very frequent | | | 33 | | |
HP:0100593 | HP:0100593 | Calcification of cartilage | 0 | MGP CL E G H | 4256 | 7060 | OMIM:245150 | Keutel syndrome | | | | 33 | | |
HP:0100593 | HP:0100593 | Calcification of cartilage | 0 | PEX2 CL E G H | 5828 | 9717 | OMIM:614866 | Peroxisome biogenesis disorder 5A (Zellweger) | | | | 82 | | |
HP:0100593 | HP:0100593 | Calcification of cartilage | 0 | PEX5 CL E G H | 5830 | 9719 | OMIM:214110 | Peroxisome biogenesis disorder 2A (Zellweger) | | | | 99 | | |
HP:0100593 | HP:0100593 | Calcification of cartilage | 0 | SLC26A2 CL E G H | 1836 | 10994 | OMIM:222600 | Diastrophic dysplasia | | | | 166 | | |
HP:0100593 | HP:0100593 | Calcification of cartilage | 0 | TNFRSF11B CL E G H | 4982 | 11909 | ORPHA:1416 | Familial calcium pyrophosphate deposition | HP:0040281 - Very frequent | | | 44 | | |
HP:0100593 | HP:0100593 | Calcification of cartilage | 0 | ZBTB20 CL E G H | 26137 | 13503 | ORPHA:3042 | Intellectual disability-cataracts-calcified pinnae-myopathy syndrome | | | | 17 | | |
HP:0100593 | HP:0100593 | Calcification of cartilage | 0 | ZBTB20 CL E G H | 26137 | 13503 | OMIM:259050 | Primrose syndrome | | | | 17 | | |
HP:0100593 | HP:0005103 | Calcification of the auricular cartilage | 1 | ABCC6 CL E G H | 368 | 57 | ORPHA:51608 | Generalized arterial calcification of infancy | HP:0040284 - Very rare | | | 415 | | |
HP:0100593 | HP:0006600 | Progressive calcification of costochondral cartilage | 1 | DDR2 CL E G H | 4921 | 2731 | OMIM:271665 | Spondylometaepiphyseal dysplasia, short Limb-Hand type | . | | | 45 | | |
HP:0100593 | HP:0005103 | Calcification of the auricular cartilage | 1 | ENPP1 CL E G H | 5167 | 3356 | ORPHA:51608 | Generalized arterial calcification of infancy | HP:0040284 - Very rare | | | 151 | | |
HP:0100593 | HP:0006646 | Costal cartilage calcification | 1 | LBR CL E G H | 3930 | 6518 | OMIM:215140 | Greenberg dysplasia | | | | 70 | | |
HP:0100593 | HP:0006646 | Costal cartilage calcification | 1 | MGP CL E G H | 4256 | 7060 | OMIM:245150 | Keutel syndrome | . | | | 33 | | |
HP:0100593 | HP:0005103 | Calcification of the auricular cartilage | 1 | MGP CL E G H | 4256 | 7060 | OMIM:245150 | Keutel syndrome | . | | | 33 | | |
HP:0100593 | HP:0002764 | Stippled chondral calcification | 1 | PEX2 CL E G H | 5828 | 9717 | OMIM:614866 | Peroxisome biogenesis disorder 5A (Zellweger) | . | | | 82 | | |
HP:0100593 | HP:0002764 | Stippled chondral calcification | 1 | PEX5 CL E G H | 5830 | 9719 | OMIM:214110 | Peroxisome biogenesis disorder 2A (Zellweger) | . | | | 99 | | |
HP:0100593 | HP:0006646 | Costal cartilage calcification | 1 | SLC26A2 CL E G H | 1836 | 10994 | OMIM:222600 | Diastrophic dysplasia | . | | | 166 | | |
HP:0100593 | HP:0005103 | Calcification of the auricular cartilage | 1 | ZBTB20 CL E G H | 26137 | 13503 | ORPHA:3042 | Intellectual disability-cataracts-calcified pinnae-myopathy syndrome | HP:0040281 - Very frequent | | | 17 | | |
HP:0100593 | HP:0005103 | Calcification of the auricular cartilage | 1 | ZBTB20 CL E G H | 26137 | 13503 | OMIM:259050 | Primrose syndrome | | | | 17 | | |