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:0031212 | HP:0031212 | Abnormal circulating progesterone level | 0 | CYP11B1 CL E G H | 1584 | 2591 | ORPHA:90795 | Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency | | | | 112 | | |
HP:0031212 | HP:0031212 | Abnormal circulating progesterone level | 0 | CYP17A1 CL E G H | 1586 | 2593 | ORPHA:90793 | Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency | | | | 53 | | |
HP:0031212 | HP:0031212 | Abnormal circulating progesterone level | 0 | EIF2B1 CL E G H | 1967 | 3257 | OMIM:603896 | Leukoencephalopathy with vanishing white matter | | | | 42 | | |
HP:0031212 | HP:0031212 | Abnormal circulating progesterone level | 0 | EIF2B2 CL E G H | 8892 | 3258 | OMIM:603896 | Leukoencephalopathy with vanishing white matter | | | | 24 | | |
HP:0031212 | HP:0031212 | Abnormal circulating progesterone level | 0 | EIF2B3 CL E G H | 8891 | 3259 | OMIM:603896 | Leukoencephalopathy with vanishing white matter | | | | 32 | | |
HP:0031212 | HP:0031212 | Abnormal circulating progesterone level | 0 | EIF2B4 CL E G H | 8890 | 3260 | OMIM:603896 | Leukoencephalopathy with vanishing white matter | | | | 38 | | |
HP:0031212 | HP:0031212 | Abnormal circulating progesterone level | 0 | EIF2B5 CL E G H | 8893 | 3261 | OMIM:603896 | Leukoencephalopathy with vanishing white matter | | | | 48 | | |
HP:0031212 | HP:0031212 | Abnormal circulating progesterone level | 0 | FOXL2 CL E G H | 668 | 1092 | ORPHA:572333 | Blepharophimosis-ptosis-epicanthus inversus syndrome plus | | | | 92 | | |
HP:0031212 | HP:0031212 | Abnormal circulating progesterone level | 0 | HSD3B2 CL E G H | 3284 | 5218 | ORPHA:90791 | Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency | | | | 34 | | |
HP:0031212 | HP:0031212 | Abnormal circulating progesterone level | 0 | POR CL E G H | 5447 | 9208 | OMIM:201750 | Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | | | | 76 | | |
HP:0031212 | HP:0031212 | Abnormal circulating progesterone level | 0 | POR CL E G H | 5447 | 9208 | ORPHA:95699 | Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency | | | | 76 | | |
HP:0031212 | HP:0031213 | Elevated circulating 17-hydroxyprogesterone | 1 | CYP11B1 CL E G H | 1584 | 2591 | ORPHA:90795 | Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency | HP:0040281 - Very frequent | | | 112 | | |
HP:0031212 | HP:0031216 | Increased circulating progesterone | 1 | CYP17A1 CL E G H | 1586 | 2593 | ORPHA:90793 | Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency | HP:0040282 - Frequent | | | 53 | | |
HP:0031212 | HP:0008233 | Decreased circulating progesterone | 1 | EIF2B1 CL E G H | 1967 | 3257 | OMIM:603896 | Leukoencephalopathy with vanishing white matter | . | | | 42 | | |
HP:0031212 | HP:0008233 | Decreased circulating progesterone | 1 | EIF2B2 CL E G H | 8892 | 3258 | OMIM:603896 | Leukoencephalopathy with vanishing white matter | . | | | 24 | | |
HP:0031212 | HP:0008233 | Decreased circulating progesterone | 1 | EIF2B3 CL E G H | 8891 | 3259 | OMIM:603896 | Leukoencephalopathy with vanishing white matter | . | | | 32 | | |
HP:0031212 | HP:0008233 | Decreased circulating progesterone | 1 | EIF2B4 CL E G H | 8890 | 3260 | OMIM:603896 | Leukoencephalopathy with vanishing white matter | . | | | 38 | | |
HP:0031212 | HP:0008233 | Decreased circulating progesterone | 1 | EIF2B5 CL E G H | 8893 | 3261 | OMIM:603896 | Leukoencephalopathy with vanishing white matter | . | | | 48 | | |
HP:0031212 | HP:0008233 | Decreased circulating progesterone | 1 | FOXL2 CL E G H | 668 | 1092 | ORPHA:572333 | Blepharophimosis-ptosis-epicanthus inversus syndrome plus | HP:0040283 - Occasional | | | 92 | | |
HP:0031212 | HP:0031213 | Elevated circulating 17-hydroxyprogesterone | 1 | HSD3B2 CL E G H | 3284 | 5218 | ORPHA:90791 | Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency | HP:0040282 - Frequent | | | 34 | | |
HP:0031212 | HP:0031213 | Elevated circulating 17-hydroxyprogesterone | 1 | POR CL E G H | 5447 | 9208 | OMIM:201750 | Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | . | | | 76 | | |
HP:0031212 | HP:0008233 | Decreased circulating progesterone | 1 | POR CL E G H | 5447 | 9208 | OMIM:201750 | Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | . | | | 76 | | |
HP:0031212 | HP:0031216 | Increased circulating progesterone | 1 | POR CL E G H | 5447 | 9208 | ORPHA:95699 | Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency | HP:0040282 - Frequent | | | 76 | | |
HP:0031212 | HP:0031213 | Elevated circulating 17-hydroxyprogesterone | 1 | POR CL E G H | 5447 | 9208 | ORPHA:95699 | Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency | HP:0040282 - Frequent | | | 76 | | |