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:0005019 | HP:0005019 | Diaphyseal thickening | 0 | GUSB CL E G H | 2990 | 4696 | ORPHA:584 | Mucopolysaccharidosis type 7 | HP:0040281 - Very frequent | | | 54 | | |
HP:0005019 | HP:0005019 | Diaphyseal thickening | 0 | IDS CL E G H | 3423 | 5389 | ORPHA:217093 | Mucopolysaccharidosis type 2, attenuated form | HP:0040283 - Occasional | | | 86 | | |
HP:0005019 | HP:0005019 | Diaphyseal thickening | 0 | IDS CL E G H | 3423 | 5389 | ORPHA:217085 | Mucopolysaccharidosis type 2, severe form | HP:0040283 - Occasional | | | 86 | | |
HP:0005019 | HP:0005019 | Diaphyseal thickening | 0 | IDUA CL E G H | 3425 | 5391 | OMIM:607014 | Hurler syndrome | . | | | 115 | | |
HP:0005019 | HP:0005019 | Diaphyseal thickening | 0 | INPPL1 CL E G H | 3636 | 6080 | ORPHA:3144 | Schneckenbecken dysplasia | HP:0040283 - Occasional | | | 18 | | |
HP:0005019 | HP:0005019 | Diaphyseal thickening | 0 | LBR CL E G H | 3930 | 6518 | OMIM:215140 | Greenberg dysplasia | | | | 70 | | |
HP:0005019 | HP:0005019 | Diaphyseal thickening | 0 | LRP4 CL E G H | 4038 | 6696 | ORPHA:3152 | Sclerosteosis | HP:0040281 - Very frequent | | | 124 | | |
HP:0005019 | HP:0005019 | Diaphyseal thickening | 0 | LRP5 CL E G H | 4041 | 6697 | ORPHA:2790 | Endosteal hyperostosis, Worth type | HP:0040281 - Very frequent | | | 125 | | |
HP:0005019 | HP:0005019 | Diaphyseal thickening | 0 | LRP5 CL E G H | 4041 | 6697 | ORPHA:3416 | Hyperostosis corticalis generalisata | HP:0040281 - Very frequent | | | 125 | | |
HP:0005019 | HP:0005019 | Diaphyseal thickening | 0 | PTDSS1 CL E G H | 9791 | 9587 | OMIM:151050 | Lenz-Majewski hyperostotic dwarfism | . | | | 6 | | |
HP:0005019 | HP:0005019 | Diaphyseal thickening | 0 | RMRP CL E G H | 6023 | 10031 | ORPHA:175 | Cartilage-hair hypoplasia | HP:0040281 - Very frequent | | | 37 | | |
HP:0005019 | HP:0005019 | Diaphyseal thickening | 0 | SHOX CL E G H | 6473 | 10853 | ORPHA:240 | Léri-Weill dyschondrosteosis | HP:0040281 - Very frequent | | | 66 | | |
HP:0005019 | HP:0005019 | Diaphyseal thickening | 0 | SLC35D1 CL E G H | 23169 | 20800 | ORPHA:3144 | Schneckenbecken dysplasia | HP:0040283 - Occasional | | | 9 | | |
HP:0005019 | HP:0005019 | Diaphyseal thickening | 0 | SOST CL E G H | 50964 | 13771 | ORPHA:1513 | Craniodiaphyseal dysplasia | HP:0040281 - Very frequent | | | 26 | | |
HP:0005019 | HP:0005019 | Diaphyseal thickening | 0 | SOST CL E G H | 50964 | 13771 | ORPHA:3416 | Hyperostosis corticalis generalisata | HP:0040281 - Very frequent | | | 26 | | |
HP:0005019 | HP:0005019 | Diaphyseal thickening | 0 | SOST CL E G H | 50964 | 13771 | ORPHA:3152 | Sclerosteosis | HP:0040281 - Very frequent | | | 26 | | |
HP:0005019 | HP:0005019 | Diaphyseal thickening | 0 | TBXAS1 CL E G H | 6916 | 11609 | ORPHA:1802 | Ghosal hematodiaphyseal dysplasia | HP:0040281 - Very frequent | | | 16 | | |