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:0004371 | HP:0004371 | Abnormality of glycosaminoglycan metabolism | 0 | GNS CL E G H | 2799 | 4422 | OMIM:252940 | Mucopolysaccharidosis, type IIID | | | | 69 | | |
HP:0004371 | HP:0004371 | Abnormality of glycosaminoglycan metabolism | 0 | HGSNAT CL E G H | 138050 | 26527 | OMIM:252930 | Mucopolysaccharidosis type IIIC | | | | 86 | | |
HP:0004371 | HP:0004371 | Abnormality of glycosaminoglycan metabolism | 0 | MCOLN1 CL E G H | 57192 | 13356 | OMIM:252650 | Mucolipidosis IV | | | | 78 | | |
HP:0004371 | HP:0004371 | Abnormality of glycosaminoglycan metabolism | 0 | MCOLN1 CL E G H | 57192 | 13356 | ORPHA:578 | Mucolipidosis type IV | | | | 78 | | |
HP:0004371 | HP:0004371 | Abnormality of glycosaminoglycan metabolism | 0 | PIK3C2A CL E G H | 5286 | 8971 | ORPHA:557003 | Oculocerebrodental syndrome | | | | | | |
HP:0004371 | HP:0011020 | Abnormality of mucopolysaccharide metabolism | 1 | GNS CL E G H | 2799 | 4422 | OMIM:252940 | Mucopolysaccharidosis, type IIID | | | | 69 | | |
HP:0004371 | HP:0011020 | Abnormality of mucopolysaccharide metabolism | 1 | HGSNAT CL E G H | 138050 | 26527 | OMIM:252930 | Mucopolysaccharidosis type IIIC | | | | 86 | | |
HP:0004371 | HP:0011020 | Abnormality of mucopolysaccharide metabolism | 1 | MCOLN1 CL E G H | 57192 | 13356 | OMIM:252650 | Mucolipidosis IV | . | | | 78 | | |
HP:0004371 | HP:0011020 | Abnormality of mucopolysaccharide metabolism | 1 | MCOLN1 CL E G H | 57192 | 13356 | ORPHA:578 | Mucolipidosis type IV | HP:0040281 - Very frequent | | | 78 | | |
HP:0004371 | HP:0011020 | Abnormality of mucopolysaccharide metabolism | 1 | PIK3C2A CL E G H | 5286 | 8971 | ORPHA:557003 | Oculocerebrodental syndrome | HP:0040282 - Frequent | | | | | |
HP:0004371 | HP:0003653 | Cellular metachromasia | 2 | GNS CL E G H | 2799 | 4422 | OMIM:252940 | Mucopolysaccharidosis, type IIID | . | | | 69 | | |
HP:0004371 | HP:0003653 | Cellular metachromasia | 2 | HGSNAT CL E G H | 138050 | 26527 | OMIM:252930 | Mucopolysaccharidosis type IIIC | . | | | 86 | | |
HP:0004371 | HP:0003610 | Fibroblast metachromasia | 3 | CL E G H | | | | | | | | | | |