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:0003148 | HP:0003148 | Elevated serum acid phosphatase | 0 | CA2 CL E G H | 760 | 1373 | ORPHA:2785 | Osteopetrosis with renal tubular acidosis | | | | 29 | | |
HP:0003148 | HP:0003148 | Elevated serum acid phosphatase | 0 | CA2 CL E G H | 760 | 1373 | OMIM:259730 | Osteopetrosis, autosomal recessive 3 | . | | | 29 | | |
HP:0003148 | HP:0003148 | Elevated serum acid phosphatase | 0 | CLCN7 CL E G H | 1186 | 2025 | OMIM:166600 | Osteopetrosis, autosomal dominant 2 | . | | | 102 | | |
HP:0003148 | HP:0003148 | Elevated serum acid phosphatase | 0 | OCRL CL E G H | 4952 | 8108 | OMIM:309000 | Lowe syndrome | . | | | 88 | | |
HP:0003148 | HP:0003148 | Elevated serum acid phosphatase | 0 | PSAP CL E G H | 5660 | 9498 | OMIM:610539 | Gaucher disease, atypical | | | | 81 | | |
HP:0003148 | HP:0003148 | Elevated serum acid phosphatase | 0 | TNFRSF11B CL E G H | 4982 | 11909 | OMIM:239000 | Paget disease of bone 5, juvenile-onset | . | | | 44 | | |