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:0008258 | HP:0008258 | Congenital adrenal hyperplasia | 0 | CYP11B1 CL E G H | 1584 | 2591 | OMIM:202010 | Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency | . | | | 112 | | |
HP:0008258 | HP:0008258 | Congenital adrenal hyperplasia | 0 | CYP17A1 CL E G H | 1586 | 2593 | ORPHA:90793 | Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency | HP:0040281 - Very frequent | | | 53 | | |
HP:0008258 | HP:0008258 | Congenital adrenal hyperplasia | 0 | HSD3B2 CL E G H | 3284 | 5218 | ORPHA:90791 | Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency | HP:0040281 - Very frequent | | | 34 | | |
HP:0008258 | HP:0008258 | Congenital adrenal hyperplasia | 0 | POR CL E G H | 5447 | 9208 | OMIM:613571 | Disordered steroidogenesis due to cytochrome P450 oxidoreductase | . | | | 76 | | |
HP:0008258 | HP:0008258 | Congenital adrenal hyperplasia | 0 | STAR CL E G H | 6770 | 11359 | OMIM:201710 | Lipoid congenital adrenal hyperplasia | . | | | 45 | | |