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:0003309 | HP:0003309 | Ovoid thoracolumbar vertebrae | 0 | GNS CL E G H | 2799 | 4422 | OMIM:252940 | Mucopolysaccharidosis, type IIID | . | | | 69 | | |
HP:0003309 | HP:0003309 | Ovoid thoracolumbar vertebrae | 0 | HGSNAT CL E G H | 138050 | 26527 | OMIM:252930 | Mucopolysaccharidosis type IIIC | . | | | 86 | | |
HP:0003309 | HP:0003309 | Ovoid thoracolumbar vertebrae | 0 | NAGLU CL E G H | 4669 | 7632 | OMIM:252920 | Mucopolysaccharidosis type IIIB | . | | | 72 | | |
HP:0003309 | HP:0003309 | Ovoid thoracolumbar vertebrae | 0 | SGSH CL E G H | 6448 | 10818 | OMIM:252900 | Mucopolysaccharidosis type IIIA | . | | | 97 | | |