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:0032209 | HP:0032209 | Abnormal circulating free T3 concentration | 0 | MADD CL E G H | 8567 | 6766 | OMIM:619004 | DEEAH SYNDROME; DEEAH | | | | 5 | | |
HP:0032209 | HP:0032209 | Abnormal circulating free T3 concentration | 0 | POU1F1 CL E G H | 5449 | 9210 | OMIM:613038 | Pituitary hormone deficiency, combined, 1 | | | | 36 | | |
HP:0032209 | HP:0032209 | Abnormal circulating free T3 concentration | 0 | SECISBP2 CL E G H | 79048 | 30972 | ORPHA:171706 | Short stature-delayed bone age due to thyroid hormone metabolism deficiency | | | | 3 | | |
HP:0032209 | HP:0032209 | Abnormal circulating free T3 concentration | 0 | SECISBP2 CL E G H | 79048 | 30972 | OMIM:609698 | Thyroid hormone metabolism, abnormal | | | | 3 | | |
HP:0032209 | HP:0032209 | Abnormal circulating free T3 concentration | 0 | THRB CL E G H | 7068 | 11799 | OMIM:188570 | Thyroid hormone resistance, generalized, autosomal dominant | | | | 161 | | |
HP:0032209 | HP:0032209 | Abnormal circulating free T3 concentration | 0 | TRHR CL E G H | 7201 | 12299 | ORPHA:99832 | Resistance to thyrotropin-releasing hormone syndrome | | | | 2 | | |
HP:0032209 | HP:0032210 | Decreased circulating free T3 | 1 | MADD CL E G H | 8567 | 6766 | OMIM:619004 | DEEAH SYNDROME; DEEAH | | | | 5 | | |
HP:0032209 | HP:0032210 | Decreased circulating free T3 | 1 | POU1F1 CL E G H | 5449 | 9210 | OMIM:613038 | Pituitary hormone deficiency, combined, 1 | | | | 36 | | |
HP:0032209 | HP:0032210 | Decreased circulating free T3 | 1 | SECISBP2 CL E G H | 79048 | 30972 | ORPHA:171706 | Short stature-delayed bone age due to thyroid hormone metabolism deficiency | | | | 3 | | |
HP:0032209 | HP:0032210 | Decreased circulating free T3 | 1 | SECISBP2 CL E G H | 79048 | 30972 | OMIM:609698 | Thyroid hormone metabolism, abnormal | | | | 3 | | |
HP:0032209 | HP:0011788 | Increased circulating free T3 | 1 | THRB CL E G H | 7068 | 11799 | OMIM:188570 | Thyroid hormone resistance, generalized, autosomal dominant | . | | | 161 | | |
HP:0032209 | HP:0032210 | Decreased circulating free T3 | 1 | TRHR CL E G H | 7201 | 12299 | ORPHA:99832 | Resistance to thyrotropin-releasing hormone syndrome | HP:0040282 - Frequent | | | 2 | | |