Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
---|
HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0002717 | HP:0002717 | Adrenal overactivity | 0 | AIRE CL E G H | 326 | 360 | ORPHA:3453 | Autoimmune polyendocrinopathy type 1 | | | | 92 | | |
HP:0002717 | HP:0002717 | Adrenal overactivity | 0 | ARMC5 CL E G H | 79798 | 25781 | OMIM:615954 | ACTH-independent macronodular adrenal hyperplasia 2 | | | | 7 | | |
HP:0002717 | HP:0002717 | Adrenal overactivity | 0 | ARMC5 CL E G H | 79798 | 25781 | ORPHA:189427 | Cushing syndrome due to macronodular adrenal hyperplasia | | | | 7 | | |
HP:0002717 | HP:0002717 | Adrenal overactivity | 0 | ATRX CL E G H | 546 | 886 | ORPHA:96253 | Cushing disease | | | | 169 | | |
HP:0002717 | HP:0002717 | Adrenal overactivity | 0 | BRAF CL E G H | 673 | 1097 | ORPHA:96253 | Cushing disease | | | | 276 | | |
HP:0002717 | HP:0002717 | Adrenal overactivity | 0 | BSND CL E G H | 7809 | 16512 | OMIM:602522 | Bartter syndrome, type 4A, neonatal, with sensorineural deafness | | | | 53 | | |
HP:0002717 | HP:0002717 | Adrenal overactivity | 0 | BSND CL E G H | 7809 | 16512 | ORPHA:89938 | Infantile Bartter syndrome with sensorineural deafness | | | | 53 | | |
HP:0002717 | HP:0002717 | Adrenal overactivity | 0 | CACNA1D CL E G H | 776 | 1391 | OMIM:615474 | Primary aldosteronism, seizures, and neurologic abnormalities | | | | 51 | | |
HP:0002717 | HP:0002717 | Adrenal overactivity | 0 | CACNA1D CL E G H | 776 | 1391 | ORPHA:369929 | Primary hyperaldosteronism-seizures-neurological abnormalities syndrome | | | | 51 | | |
HP:0002717 | HP:0002717 | Adrenal overactivity | 0 | CACNA1H CL E G H | 8912 | 1395 | OMIM:617027 | Hyperaldosteronism, familial, type IV | | | | 75 | | |
HP:0002717 | HP:0002717 | Adrenal overactivity | 0 | CDH23 CL E G H | 64072 | 13733 | ORPHA:96253 | Cushing disease | | | | 636 | | |
HP:0002717 | HP:0002717 | Adrenal overactivity | 0 | CDKN1A CL E G H | 1026 | 1784 | ORPHA:652 | Multiple endocrine neoplasia type 1 | | | | 2 | | |
HP:0002717 | HP:0002717 | Adrenal overactivity | 0 | CDKN1B CL E G H | 1027 | 1785 | ORPHA:652 | Multiple endocrine neoplasia type 1 | | | | 102 | | |
HP:0002717 | HP:0002717 | Adrenal overactivity | 0 | CDKN1B CL E G H | 1027 | 1785 | ORPHA:276152 | Multiple endocrine neoplasia type 4 | | | | 102 | | |
HP:0002717 | HP:0002717 | Adrenal overactivity | 0 | CDKN2A CL E G H | 1029 | 1787 | ORPHA:1501 | Adrenocortical carcinoma | | | | 289 | | |
HP:0002717 | HP:0002717 | Adrenal overactivity | 0 | CDKN2B CL E G H | 1030 | 1788 | ORPHA:652 | Multiple endocrine neoplasia type 1 | | | | 1 | | |
HP:0002717 | HP:0002717 | Adrenal overactivity | 0 | CDKN2C CL E G H | 1031 | 1789 | ORPHA:652 | Multiple endocrine neoplasia type 1 | | | | | | |
HP:0002717 | HP:0002717 | Adrenal overactivity | 0 | CLCN2 CL E G H | 1181 | 2020 | ORPHA:404 | Familial hyperaldosteronism type II | | | | 44 | | |
HP:0002717 | HP:0002717 | Adrenal overactivity | 0 | CLCN2 CL E G H | 1181 | 2020 | OMIM:605635 | Hyperaldosteronism, familial, type II | | | | 44 | | |
HP:0002717 | HP:0002717 | Adrenal overactivity | 0 | CLCNKA CL E G H | 1187 | 2026 | OMIM:613090 | Bartter syndrome, type 4B, neonatal, with sensorineural deafness | | | | 9 | | |
HP:0002717 | HP:0002717 | Adrenal overactivity | 0 | CLCNKA CL E G H | 1187 | 2026 | ORPHA:89938 | Infantile Bartter syndrome with sensorineural deafness | | | | 9 | | |
HP:0002717 | HP:0002717 | Adrenal overactivity | 0 | CLCNKB CL E G H | 1188 | 2027 | OMIM:607364 | Bartter syndrome, type 3 | | | | 27 | | |
HP:0002717 | HP:0002717 | Adrenal overactivity | 0 | CLCNKB CL E G H | 1188 | 2027 | OMIM:613090 | Bartter syndrome, type 4B, neonatal, with sensorineural deafness | | | | 27 | | |
HP:0002717 | HP:0002717 | Adrenal overactivity | 0 | CLCNKB CL E G H | 1188 | 2027 | ORPHA:358 | Gitelman syndrome | | | | 27 | | |
HP:0002717 | HP:0002717 | Adrenal overactivity | 0 | CLCNKB CL E G H | 1188 | 2027 | ORPHA:89938 | Infantile Bartter syndrome with sensorineural deafness | | | | 27 | | |
HP:0002717 | HP:0002717 | Adrenal overactivity | 0 | CTNNB1 CL E G H | 1499 | 2514 | ORPHA:1501 | Adrenocortical carcinoma | | | | 88 | | |
HP:0002717 | HP:0002717 | Adrenal overactivity | 0 | CYP11A1 CL E G H | 1583 | 2590 | OMIM:613743 | Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete | | | | 31 | | |
HP:0002717 | HP:0002717 | Adrenal overactivity | 0 | CYP11B1 CL E G H | 1584 | 2591 | OMIM:202010 | Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency | | | | 112 | | |
HP:0002717 | HP:0002717 | Adrenal overactivity | 0 | CYP11B1 CL E G H | 1584 | 2591 | ORPHA:403 | Familial hyperaldosteronism type I | | | | 112 | | |
HP:0002717 | HP:0002717 | Adrenal overactivity | 0 | CYP11B1 CL E G H | 1584 | 2591 | OMIM:103900 | Glucocorticoid-Remediable aldosteronism | | | | 112 | | |
HP:0002717 | HP:0002717 | Adrenal overactivity | 0 | CYP11B2 CL E G H | 1585 | 2592 | ORPHA:556030 | Early-onset familial hypoaldosteronism | | | | 73 | | |
HP:0002717 | HP:0002717 | Adrenal overactivity | 0 | CYP11B2 CL E G H | 1585 | 2592 | ORPHA:403 | Familial hyperaldosteronism type I | | | | 73 | | |
HP:0002717 | HP:0002717 | Adrenal overactivity | 0 | GNAS CL E G H | 2778 | 4392 | OMIM:219080 | ACTH-independent macronodular adrenal hyperplasia | | | | 101 | | |
HP:0002717 | HP:0002717 | Adrenal overactivity | 0 | GNAS CL E G H | 2778 | 4392 | ORPHA:189427 | Cushing syndrome due to macronodular adrenal hyperplasia | | | | 101 | | |
HP:0002717 | HP:0002717 | Adrenal overactivity | 0 | GNAS CL E G H | 2778 | 4392 | ORPHA:562 | McCune-Albright syndrome | | | | 101 | | |
HP:0002717 | HP:0002717 | Adrenal overactivity | 0 | GNAS CL E G H | 2778 | 4392 | OMIM:174800 | McCune-Albright syndrome, somatic, mosaic | | | | 101 | | |
HP:0002717 | HP:0002717 | Adrenal overactivity | 0 | HTR1A CL E G H | 3350 | 5286 | OMIM:614674 | Periodic fever, menstrual cycle-dependent | | | | 2 | | |
HP:0002717 | HP:0002717 | Adrenal overactivity | 0 | INSR CL E G H | 3643 | 6091 | ORPHA:508 | Leprechaunism | | | | 229 | | |
HP:0002717 | HP:0002717 | Adrenal overactivity | 0 | KCNJ1 CL E G H | 3758 | 6255 | OMIM:241200 | Bartter syndrome, antenatal, type 2 | | | | 51 | | |
HP:0002717 | HP:0002717 | Adrenal overactivity | 0 | KCNJ10 CL E G H | 3766 | 6256 | ORPHA:199343 | EAST syndrome | | | | 121 | | |
HP:0002717 | HP:0002717 | Adrenal overactivity | 0 | KCNJ10 CL E G H | 3766 | 6256 | OMIM:612780 | Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance | | | | 121 | | |
HP:0002717 | HP:0002717 | Adrenal overactivity | 0 | KCNJ11 CL E G H | 3767 | 6257 | ORPHA:79644 | Autosomal recessive hyperinsulinism due to Kir6.2 deficiency | | | | 127 | | |
HP:0002717 | HP:0002717 | Adrenal overactivity | 0 | KCNJ16 CL E G H | 3773 | 6262 | OMIM:619406 | HYPOKALEMIC TUBULOPATHY AND DEAFNESS; HKTD | | | | | | |
HP:0002717 | HP:0002717 | Adrenal overactivity | 0 | KCNJ2 CL E G H | 3759 | 6263 | ORPHA:37553 | Andersen-Tawil syndrome | | | | 193 | | |
HP:0002717 | HP:0002717 | Adrenal overactivity | 0 | KCNJ5 CL E G H | 3762 | 6266 | ORPHA:37553 | Andersen-Tawil syndrome | | | | 128 | | |
HP:0002717 | HP:0002717 | Adrenal overactivity | 0 | KCNJ5 CL E G H | 3762 | 6266 | ORPHA:251274 | Familial hyperaldosteronism type III | | | | 128 | | |
HP:0002717 | HP:0002717 | Adrenal overactivity | 0 | KCNJ5 CL E G H | 3762 | 6266 | OMIM:613677 | Hyperaldosteronism, familial, type III | | | | 128 | | |
HP:0002717 | HP:0002717 | Adrenal overactivity | 0 | MEN1 CL E G H | 4221 | 7010 | OMIM:131100 | Multiple endocrine neoplasia 1 | | | | 462 | | |
HP:0002717 | HP:0002717 | Adrenal overactivity | 0 | MEN1 CL E G H | 4221 | 7010 | ORPHA:652 | Multiple endocrine neoplasia type 1 | | | | 462 | | |
HP:0002717 | HP:0002717 | Adrenal overactivity | 0 | NR3C1 CL E G H | 2908 | 7978 | ORPHA:96253 | Cushing disease | | | | 79 | | |
HP:0002717 | HP:0002717 | Adrenal overactivity | 0 | NR3C1 CL E G H | 2908 | 7978 | ORPHA:786 | Generalized glucocorticoid resistance syndrome | | | | 79 | | |
HP:0002717 | HP:0002717 | Adrenal overactivity | 0 | NR3C2 CL E G H | 4306 | 7979 | OMIM:177735 | Pseudohypoaldosteronism, type I, autosomal dominant | | | | 109 | | |
HP:0002717 | HP:0002717 | Adrenal overactivity | 0 | OCRL CL E G H | 4952 | 8108 | ORPHA:534 | Oculocerebrorenal syndrome of Lowe | | | | 88 | | |
HP:0002717 | HP:0002717 | Adrenal overactivity | 0 | PDE11A CL E G H | 50940 | 8773 | ORPHA:1359 | Carney complex | | | | 13 | | |
HP:0002717 | HP:0002717 | Adrenal overactivity | 0 | PDE11A CL E G H | 50940 | 8773 | OMIM:610475 | Pigmented nodular adrenocortical disease, primary, 2 | | | | 13 | | |
HP:0002717 | HP:0002717 | Adrenal overactivity | 0 | PDE11A CL E G H | 50940 | 8773 | ORPHA:189439 | Primary pigmented nodular adrenocortical disease | | | | 13 | | |
HP:0002717 | HP:0002717 | Adrenal overactivity | 0 | PDE8B CL E G H | 8622 | 8794 | OMIM:614190 | Pigmented nodular adrenocortical disease, primary, 3 | | | | 75 | | |
HP:0002717 | HP:0002717 | Adrenal overactivity | 0 | PDE8B CL E G H | 8622 | 8794 | ORPHA:189439 | Primary pigmented nodular adrenocortical disease | | | | 75 | | |
HP:0002717 | HP:0002717 | Adrenal overactivity | 0 | PRKACA CL E G H | 5566 | 9380 | OMIM:615830 | Pigmented nodular adrenocortical disease, primary, 4 | | | | 2 | | |
HP:0002717 | HP:0002717 | Adrenal overactivity | 0 | PRKACA CL E G H | 5566 | 9380 | ORPHA:189439 | Primary pigmented nodular adrenocortical disease | | | | 2 | | |
HP:0002717 | HP:0002717 | Adrenal overactivity | 0 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:1501 | Adrenocortical carcinoma | | | | 134 | | |
HP:0002717 | HP:0002717 | Adrenal overactivity | 0 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:1359 | Carney complex | | | | 134 | | |
HP:0002717 | HP:0002717 | Adrenal overactivity | 0 | PRKAR1A CL E G H | 5573 | 9388 | OMIM:610489 | Pigmented nodular adrenocortical disease, primary, 1 | | | | 134 | | |
HP:0002717 | HP:0002717 | Adrenal overactivity | 0 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:189439 | Primary pigmented nodular adrenocortical disease | | | | 134 | | |
HP:0002717 | HP:0002717 | Adrenal overactivity | 0 | RET CL E G H | 5979 | 9967 | OMIM:171400 | Multiple endocrine neoplasia, type IIA | | | | 572 | | |
HP:0002717 | HP:0002717 | Adrenal overactivity | 0 | SCNN1A CL E G H | 6337 | 10599 | ORPHA:171876 | Generalized pseudohypoaldosteronism type 1 | | | | 67 | | |
HP:0002717 | HP:0002717 | Adrenal overactivity | 0 | SCNN1A CL E G H | 6337 | 10599 | OMIM:264350 | Pseudohypoaldosteronism, type I, autosomal recessive | | | | 67 | | |
HP:0002717 | HP:0002717 | Adrenal overactivity | 0 | SCNN1B CL E G H | 6338 | 10600 | ORPHA:171876 | Generalized pseudohypoaldosteronism type 1 | | | | 61 | | |
HP:0002717 | HP:0002717 | Adrenal overactivity | 0 | SCNN1G CL E G H | 6340 | 10602 | ORPHA:171876 | Generalized pseudohypoaldosteronism type 1 | | | | 57 | | |
HP:0002717 | HP:0002717 | Adrenal overactivity | 0 | SLC12A1 CL E G H | 6557 | 10910 | OMIM:601678 | Bartter syndrome, type 1, antenatal | | | | 75 | | |
HP:0002717 | HP:0002717 | Adrenal overactivity | 0 | SLC12A3 CL E G H | 6559 | 10912 | ORPHA:358 | Gitelman syndrome | | | | 145 | | |
HP:0002717 | HP:0002717 | Adrenal overactivity | 0 | SLC26A3 CL E G H | 1811 | 3018 | OMIM:214700 | Diarrhea 1, secretory chloride, congenital | | | | 89 | | |
HP:0002717 | HP:0002717 | Adrenal overactivity | 0 | TERT CL E G H | 7015 | 11730 | ORPHA:1501 | Adrenocortical carcinoma | | | | 238 | | |
HP:0002717 | HP:0002717 | Adrenal overactivity | 0 | TP53 CL E G H | 7157 | 11998 | ORPHA:1501 | Adrenocortical carcinoma | | | | 911 | | |
HP:0002717 | HP:0002717 | Adrenal overactivity | 0 | TP53 CL E G H | 7157 | 11998 | ORPHA:96253 | Cushing disease | | | | 911 | | |
HP:0002717 | HP:0002717 | Adrenal overactivity | 0 | USP48 CL E G H | 84196 | 18533 | ORPHA:96253 | Cushing disease | | | | 1 | | |
HP:0002717 | HP:0002717 | Adrenal overactivity | 0 | USP8 CL E G H | 9101 | 12631 | ORPHA:96253 | Cushing disease | | | | 7 | | |
HP:0002717 | HP:0002717 | Adrenal overactivity | 0 | ZNRF3 CL E G H | 84133 | 18126 | ORPHA:1501 | Adrenocortical carcinoma | | | | | | |
HP:0002717 | HP:0003118 | Increased circulating cortisol level | 1 | AIRE CL E G H | 326 | 360 | ORPHA:3453 | Autoimmune polyendocrinopathy type 1 | HP:0040281 - Very frequent | | | 92 | | |
HP:0002717 | HP:0003118 | Increased circulating cortisol level | 1 | ARMC5 CL E G H | 79798 | 25781 | OMIM:615954 | ACTH-independent macronodular adrenal hyperplasia 2 | | | | 7 | | |
HP:0002717 | HP:0003118 | Increased circulating cortisol level | 1 | ARMC5 CL E G H | 79798 | 25781 | ORPHA:189427 | Cushing syndrome due to macronodular adrenal hyperplasia | | | | 7 | | |
HP:0002717 | HP:0000859 | Hyperaldosteronism | 1 | ARMC5 CL E G H | 79798 | 25781 | ORPHA:189427 | Cushing syndrome due to macronodular adrenal hyperplasia | | | | 7 | | |
HP:0002717 | HP:0003118 | Increased circulating cortisol level | 1 | ATRX CL E G H | 546 | 886 | ORPHA:96253 | Cushing disease | | | | 169 | | |
HP:0002717 | HP:0003118 | Increased circulating cortisol level | 1 | BRAF CL E G H | 673 | 1097 | ORPHA:96253 | Cushing disease | | | | 276 | | |
HP:0002717 | HP:0000859 | Hyperaldosteronism | 1 | BSND CL E G H | 7809 | 16512 | OMIM:602522 | Bartter syndrome, type 4A, neonatal, with sensorineural deafness | . | | | 53 | | |
HP:0002717 | HP:0000859 | Hyperaldosteronism | 1 | BSND CL E G H | 7809 | 16512 | ORPHA:89938 | Infantile Bartter syndrome with sensorineural deafness | HP:0040281 - Very frequent | | | 53 | | |
HP:0002717 | HP:0000859 | Hyperaldosteronism | 1 | CACNA1D CL E G H | 776 | 1391 | OMIM:615474 | Primary aldosteronism, seizures, and neurologic abnormalities | | | | 51 | | |
HP:0002717 | HP:0000859 | Hyperaldosteronism | 1 | CACNA1D CL E G H | 776 | 1391 | ORPHA:369929 | Primary hyperaldosteronism-seizures-neurological abnormalities syndrome | HP:0040280 - Obligate | | | 51 | | |
HP:0002717 | HP:0000859 | Hyperaldosteronism | 1 | CACNA1H CL E G H | 8912 | 1395 | OMIM:617027 | Hyperaldosteronism, familial, type IV | | | | 75 | | |
HP:0002717 | HP:0003118 | Increased circulating cortisol level | 1 | CDH23 CL E G H | 64072 | 13733 | ORPHA:96253 | Cushing disease | | | | 636 | | |
HP:0002717 | HP:0003118 | Increased circulating cortisol level | 1 | CDKN1A CL E G H | 1026 | 1784 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040283 - Occasional | | | 2 | | |
HP:0002717 | HP:0003118 | Increased circulating cortisol level | 1 | CDKN1B CL E G H | 1027 | 1785 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040283 - Occasional | | | 102 | | |
HP:0002717 | HP:0003118 | Increased circulating cortisol level | 1 | CDKN1B CL E G H | 1027 | 1785 | ORPHA:276152 | Multiple endocrine neoplasia type 4 | HP:0040283 - Occasional | | | 102 | | |
HP:0002717 | HP:0000859 | Hyperaldosteronism | 1 | CDKN2A CL E G H | 1029 | 1787 | ORPHA:1501 | Adrenocortical carcinoma | HP:0040282 - Frequent | | | 289 | | |
HP:0002717 | HP:0003118 | Increased circulating cortisol level | 1 | CDKN2A CL E G H | 1029 | 1787 | ORPHA:1501 | Adrenocortical carcinoma | HP:0040282 - Frequent | | | 289 | | |
HP:0002717 | HP:0003118 | Increased circulating cortisol level | 1 | CDKN2B CL E G H | 1030 | 1788 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040283 - Occasional | | | 1 | | |
HP:0002717 | HP:0003118 | Increased circulating cortisol level | 1 | CDKN2C CL E G H | 1031 | 1789 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040283 - Occasional | | | | | |
HP:0002717 | HP:0000859 | Hyperaldosteronism | 1 | CLCN2 CL E G H | 1181 | 2020 | ORPHA:404 | Familial hyperaldosteronism type II | | | | 44 | | |
HP:0002717 | HP:0000859 | Hyperaldosteronism | 1 | CLCN2 CL E G H | 1181 | 2020 | OMIM:605635 | Hyperaldosteronism, familial, type II | | | | 44 | | |
HP:0002717 | HP:0000859 | Hyperaldosteronism | 1 | CLCNKA CL E G H | 1187 | 2026 | OMIM:613090 | Bartter syndrome, type 4B, neonatal, with sensorineural deafness | . | | | 9 | | |
HP:0002717 | HP:0000859 | Hyperaldosteronism | 1 | CLCNKA CL E G H | 1187 | 2026 | ORPHA:89938 | Infantile Bartter syndrome with sensorineural deafness | HP:0040281 - Very frequent | | | 9 | | |
HP:0002717 | HP:0000859 | Hyperaldosteronism | 1 | CLCNKB CL E G H | 1188 | 2027 | OMIM:607364 | Bartter syndrome, type 3 | . | | | 27 | | |
HP:0002717 | HP:0000859 | Hyperaldosteronism | 1 | CLCNKB CL E G H | 1188 | 2027 | OMIM:613090 | Bartter syndrome, type 4B, neonatal, with sensorineural deafness | . | | | 27 | | |
HP:0002717 | HP:0000859 | Hyperaldosteronism | 1 | CLCNKB CL E G H | 1188 | 2027 | ORPHA:358 | Gitelman syndrome | | | | 27 | | |
HP:0002717 | HP:0000859 | Hyperaldosteronism | 1 | CLCNKB CL E G H | 1188 | 2027 | ORPHA:89938 | Infantile Bartter syndrome with sensorineural deafness | HP:0040281 - Very frequent | | | 27 | | |
HP:0002717 | HP:0003118 | Increased circulating cortisol level | 1 | CTNNB1 CL E G H | 1499 | 2514 | ORPHA:1501 | Adrenocortical carcinoma | HP:0040282 - Frequent | | | 88 | | |
HP:0002717 | HP:0000859 | Hyperaldosteronism | 1 | CTNNB1 CL E G H | 1499 | 2514 | ORPHA:1501 | Adrenocortical carcinoma | HP:0040282 - Frequent | | | 88 | | |
HP:0002717 | HP:0000859 | Hyperaldosteronism | 1 | CYP11A1 CL E G H | 1583 | 2590 | OMIM:613743 | Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete | . | | | 31 | | |
HP:0002717 | HP:0003118 | Increased circulating cortisol level | 1 | CYP11B1 CL E G H | 1584 | 2591 | OMIM:202010 | Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency | | | | 112 | | |
HP:0002717 | HP:0000859 | Hyperaldosteronism | 1 | CYP11B1 CL E G H | 1584 | 2591 | ORPHA:403 | Familial hyperaldosteronism type I | | | | 112 | | |
HP:0002717 | HP:0000859 | Hyperaldosteronism | 1 | CYP11B1 CL E G H | 1584 | 2591 | OMIM:103900 | Glucocorticoid-Remediable aldosteronism | . | | | 112 | | |
HP:0002717 | HP:0003118 | Increased circulating cortisol level | 1 | CYP11B2 CL E G H | 1585 | 2592 | ORPHA:556030 | Early-onset familial hypoaldosteronism | | | | 73 | | |
HP:0002717 | HP:0000859 | Hyperaldosteronism | 1 | CYP11B2 CL E G H | 1585 | 2592 | ORPHA:403 | Familial hyperaldosteronism type I | | | | 73 | | |
HP:0002717 | HP:0003118 | Increased circulating cortisol level | 1 | GNAS CL E G H | 2778 | 4392 | OMIM:219080 | ACTH-independent macronodular adrenal hyperplasia | . | | | 101 | | |
HP:0002717 | HP:0003118 | Increased circulating cortisol level | 1 | GNAS CL E G H | 2778 | 4392 | ORPHA:189427 | Cushing syndrome due to macronodular adrenal hyperplasia | | | | 101 | | |
HP:0002717 | HP:0000859 | Hyperaldosteronism | 1 | GNAS CL E G H | 2778 | 4392 | ORPHA:189427 | Cushing syndrome due to macronodular adrenal hyperplasia | | | | 101 | | |
HP:0002717 | HP:0003118 | Increased circulating cortisol level | 1 | GNAS CL E G H | 2778 | 4392 | ORPHA:562 | McCune-Albright syndrome | HP:0040284 - Very rare | | | 101 | | |
HP:0002717 | HP:0003118 | Increased circulating cortisol level | 1 | GNAS CL E G H | 2778 | 4392 | OMIM:174800 | McCune-Albright syndrome, somatic, mosaic | . | | | 101 | | |
HP:0002717 | HP:0003118 | Increased circulating cortisol level | 1 | HTR1A CL E G H | 3350 | 5286 | OMIM:614674 | Periodic fever, menstrual cycle-dependent | HP:0040283 - Occasional | | | 2 | | |
HP:0002717 | HP:0000859 | Hyperaldosteronism | 1 | INSR CL E G H | 3643 | 6091 | ORPHA:508 | Leprechaunism | HP:0040283 - Occasional | | | 229 | | |
HP:0002717 | HP:0000859 | Hyperaldosteronism | 1 | KCNJ1 CL E G H | 3758 | 6255 | OMIM:241200 | Bartter syndrome, antenatal, type 2 | . | | | 51 | | |
HP:0002717 | HP:0000859 | Hyperaldosteronism | 1 | KCNJ10 CL E G H | 3766 | 6256 | ORPHA:199343 | EAST syndrome | HP:0040281 - Very frequent | | | 121 | | |
HP:0002717 | HP:0000859 | Hyperaldosteronism | 1 | KCNJ10 CL E G H | 3766 | 6256 | OMIM:612780 | Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance | . | | | 121 | | |
HP:0002717 | HP:0003118 | Increased circulating cortisol level | 1 | KCNJ11 CL E G H | 3767 | 6257 | ORPHA:79644 | Autosomal recessive hyperinsulinism due to Kir6.2 deficiency | | | | 127 | | |
HP:0002717 | HP:0000859 | Hyperaldosteronism | 1 | KCNJ16 CL E G H | 3773 | 6262 | OMIM:619406 | HYPOKALEMIC TUBULOPATHY AND DEAFNESS; HKTD | | | | | | |
HP:0002717 | HP:0000859 | Hyperaldosteronism | 1 | KCNJ2 CL E G H | 3759 | 6263 | ORPHA:37553 | Andersen-Tawil syndrome | HP:0040283 - Occasional | | | 193 | | |
HP:0002717 | HP:0000859 | Hyperaldosteronism | 1 | KCNJ5 CL E G H | 3762 | 6266 | ORPHA:37553 | Andersen-Tawil syndrome | HP:0040283 - Occasional | | | 128 | | |
HP:0002717 | HP:0000859 | Hyperaldosteronism | 1 | KCNJ5 CL E G H | 3762 | 6266 | ORPHA:251274 | Familial hyperaldosteronism type III | | | | 128 | | |
HP:0002717 | HP:0000859 | Hyperaldosteronism | 1 | KCNJ5 CL E G H | 3762 | 6266 | OMIM:613677 | Hyperaldosteronism, familial, type III | . | | | 128 | | |
HP:0002717 | HP:0003118 | Increased circulating cortisol level | 1 | MEN1 CL E G H | 4221 | 7010 | OMIM:131100 | Multiple endocrine neoplasia 1 | . | | | 462 | | |
HP:0002717 | HP:0003118 | Increased circulating cortisol level | 1 | MEN1 CL E G H | 4221 | 7010 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040283 - Occasional | | | 462 | | |
HP:0002717 | HP:0003118 | Increased circulating cortisol level | 1 | NR3C1 CL E G H | 2908 | 7978 | ORPHA:96253 | Cushing disease | | | | 79 | | |
HP:0002717 | HP:0003118 | Increased circulating cortisol level | 1 | NR3C1 CL E G H | 2908 | 7978 | ORPHA:786 | Generalized glucocorticoid resistance syndrome | HP:0040281 - Very frequent | | | 79 | | |
HP:0002717 | HP:0000859 | Hyperaldosteronism | 1 | NR3C2 CL E G H | 4306 | 7979 | OMIM:177735 | Pseudohypoaldosteronism, type I, autosomal dominant | . | | | 109 | | |
HP:0002717 | HP:0000859 | Hyperaldosteronism | 1 | OCRL CL E G H | 4952 | 8108 | ORPHA:534 | Oculocerebrorenal syndrome of Lowe | HP:0040283 - Occasional | | | 88 | | |
HP:0002717 | HP:0003118 | Increased circulating cortisol level | 1 | PDE11A CL E G H | 50940 | 8773 | ORPHA:1359 | Carney complex | HP:0040282 - Frequent | | | 13 | | |
HP:0002717 | HP:0003118 | Increased circulating cortisol level | 1 | PDE11A CL E G H | 50940 | 8773 | OMIM:610475 | Pigmented nodular adrenocortical disease, primary, 2 | . | | | 13 | | |
HP:0002717 | HP:0003118 | Increased circulating cortisol level | 1 | PDE11A CL E G H | 50940 | 8773 | ORPHA:189439 | Primary pigmented nodular adrenocortical disease | | | | 13 | | |
HP:0002717 | HP:0003118 | Increased circulating cortisol level | 1 | PDE8B CL E G H | 8622 | 8794 | OMIM:614190 | Pigmented nodular adrenocortical disease, primary, 3 | . | | | 75 | | |
HP:0002717 | HP:0003118 | Increased circulating cortisol level | 1 | PDE8B CL E G H | 8622 | 8794 | ORPHA:189439 | Primary pigmented nodular adrenocortical disease | | | | 75 | | |
HP:0002717 | HP:0003118 | Increased circulating cortisol level | 1 | PRKACA CL E G H | 5566 | 9380 | OMIM:615830 | Pigmented nodular adrenocortical disease, primary, 4 | . | | | 2 | | |
HP:0002717 | HP:0003118 | Increased circulating cortisol level | 1 | PRKACA CL E G H | 5566 | 9380 | ORPHA:189439 | Primary pigmented nodular adrenocortical disease | | | | 2 | | |
HP:0002717 | HP:0003118 | Increased circulating cortisol level | 1 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:1501 | Adrenocortical carcinoma | HP:0040282 - Frequent | | | 134 | | |
HP:0002717 | HP:0000859 | Hyperaldosteronism | 1 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:1501 | Adrenocortical carcinoma | HP:0040282 - Frequent | | | 134 | | |
HP:0002717 | HP:0003118 | Increased circulating cortisol level | 1 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:1359 | Carney complex | HP:0040282 - Frequent | | | 134 | | |
HP:0002717 | HP:0003118 | Increased circulating cortisol level | 1 | PRKAR1A CL E G H | 5573 | 9388 | OMIM:610489 | Pigmented nodular adrenocortical disease, primary, 1 | . | | | 134 | | |
HP:0002717 | HP:0003118 | Increased circulating cortisol level | 1 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:189439 | Primary pigmented nodular adrenocortical disease | | | | 134 | | |
HP:0002717 | HP:0003118 | Increased circulating cortisol level | 1 | RET CL E G H | 5979 | 9967 | OMIM:171400 | Multiple endocrine neoplasia, type IIA | . | | | 572 | | |
HP:0002717 | HP:0000859 | Hyperaldosteronism | 1 | SCNN1A CL E G H | 6337 | 10599 | ORPHA:171876 | Generalized pseudohypoaldosteronism type 1 | | | | 67 | | |
HP:0002717 | HP:0000859 | Hyperaldosteronism | 1 | SCNN1A CL E G H | 6337 | 10599 | OMIM:264350 | Pseudohypoaldosteronism, type I, autosomal recessive | . | | | 67 | | |
HP:0002717 | HP:0000859 | Hyperaldosteronism | 1 | SCNN1B CL E G H | 6338 | 10600 | ORPHA:171876 | Generalized pseudohypoaldosteronism type 1 | | | | 61 | | |
HP:0002717 | HP:0000859 | Hyperaldosteronism | 1 | SCNN1G CL E G H | 6340 | 10602 | ORPHA:171876 | Generalized pseudohypoaldosteronism type 1 | | | | 57 | | |
HP:0002717 | HP:0000859 | Hyperaldosteronism | 1 | SLC12A1 CL E G H | 6557 | 10910 | OMIM:601678 | Bartter syndrome, type 1, antenatal | . | | | 75 | | |
HP:0002717 | HP:0000859 | Hyperaldosteronism | 1 | SLC12A3 CL E G H | 6559 | 10912 | ORPHA:358 | Gitelman syndrome | | | | 145 | | |
HP:0002717 | HP:0000859 | Hyperaldosteronism | 1 | SLC26A3 CL E G H | 1811 | 3018 | OMIM:214700 | Diarrhea 1, secretory chloride, congenital | . | | | 89 | | |
HP:0002717 | HP:0003118 | Increased circulating cortisol level | 1 | TERT CL E G H | 7015 | 11730 | ORPHA:1501 | Adrenocortical carcinoma | HP:0040282 - Frequent | | | 238 | | |
HP:0002717 | HP:0000859 | Hyperaldosteronism | 1 | TERT CL E G H | 7015 | 11730 | ORPHA:1501 | Adrenocortical carcinoma | HP:0040282 - Frequent | | | 238 | | |
HP:0002717 | HP:0000859 | Hyperaldosteronism | 1 | TP53 CL E G H | 7157 | 11998 | ORPHA:1501 | Adrenocortical carcinoma | HP:0040282 - Frequent | | | 911 | | |
HP:0002717 | HP:0003118 | Increased circulating cortisol level | 1 | TP53 CL E G H | 7157 | 11998 | ORPHA:1501 | Adrenocortical carcinoma | HP:0040282 - Frequent | | | 911 | | |
HP:0002717 | HP:0003118 | Increased circulating cortisol level | 1 | TP53 CL E G H | 7157 | 11998 | ORPHA:96253 | Cushing disease | | | | 911 | | |
HP:0002717 | HP:0003118 | Increased circulating cortisol level | 1 | USP48 CL E G H | 84196 | 18533 | ORPHA:96253 | Cushing disease | | | | 1 | | |
HP:0002717 | HP:0003118 | Increased circulating cortisol level | 1 | USP8 CL E G H | 9101 | 12631 | ORPHA:96253 | Cushing disease | | | | 7 | | |
HP:0002717 | HP:0003118 | Increased circulating cortisol level | 1 | ZNRF3 CL E G H | 84133 | 18126 | ORPHA:1501 | Adrenocortical carcinoma | HP:0040282 - Frequent | | | | | |
HP:0002717 | HP:0000859 | Hyperaldosteronism | 1 | ZNRF3 CL E G H | 84133 | 18126 | ORPHA:1501 | Adrenocortical carcinoma | HP:0040282 - Frequent | | | | | |
HP:0002717 | HP:0011744 | Secondary hypercortisolism | 2 | CL E G H | | | | | | | | | | |
HP:0002717 | HP:0011741 | Secondary hyperaldosteronism | 2 | CL E G H | | | | | | | | | | |
HP:0002717 | HP:0011736 | Primary hyperaldosteronism | 2 | CACNA1D CL E G H | 776 | 1391 | OMIM:615474 | Primary aldosteronism, seizures, and neurologic abnormalities | | | | 51 | | |
HP:0002717 | HP:0001579 | Primary hypercortisolism | 2 | CDKN1A CL E G H | 1026 | 1784 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040283 - Occasional | | | 2 | | |
HP:0002717 | HP:0001579 | Primary hypercortisolism | 2 | CDKN1B CL E G H | 1027 | 1785 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040283 - Occasional | | | 102 | | |
HP:0002717 | HP:0025436 | Elevated serum 11-deoxycortisol | 2 | CDKN2A CL E G H | 1029 | 1787 | ORPHA:1501 | Adrenocortical carcinoma | HP:0040282 - Frequent | | | 289 | | |
HP:0002717 | HP:0001579 | Primary hypercortisolism | 2 | CDKN2B CL E G H | 1030 | 1788 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040283 - Occasional | | | 1 | | |
HP:0002717 | HP:0001579 | Primary hypercortisolism | 2 | CDKN2C CL E G H | 1031 | 1789 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040283 - Occasional | | | | | |
HP:0002717 | HP:0011736 | Primary hyperaldosteronism | 2 | CLCN2 CL E G H | 1181 | 2020 | ORPHA:404 | Familial hyperaldosteronism type II | | | | 44 | | |
HP:0002717 | HP:0011736 | Primary hyperaldosteronism | 2 | CLCNKB CL E G H | 1188 | 2027 | ORPHA:358 | Gitelman syndrome | HP:0040284 - Very rare | | | 27 | | |
HP:0002717 | HP:0025436 | Elevated serum 11-deoxycortisol | 2 | CTNNB1 CL E G H | 1499 | 2514 | ORPHA:1501 | Adrenocortical carcinoma | HP:0040282 - Frequent | | | 88 | | |
HP:0002717 | HP:0025436 | Elevated serum 11-deoxycortisol | 2 | CYP11B1 CL E G H | 1584 | 2591 | OMIM:202010 | Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency | | | | 112 | | |
HP:0002717 | HP:0011736 | Primary hyperaldosteronism | 2 | CYP11B1 CL E G H | 1584 | 2591 | ORPHA:403 | Familial hyperaldosteronism type I | | | | 112 | | |
HP:0002717 | HP:0025436 | Elevated serum 11-deoxycortisol | 2 | CYP11B2 CL E G H | 1585 | 2592 | ORPHA:556030 | Early-onset familial hypoaldosteronism | HP:0040282 - Frequent | | | 73 | | |
HP:0002717 | HP:0011736 | Primary hyperaldosteronism | 2 | CYP11B2 CL E G H | 1585 | 2592 | ORPHA:403 | Familial hyperaldosteronism type I | | | | 73 | | |
HP:0002717 | HP:0001579 | Primary hypercortisolism | 2 | GNAS CL E G H | 2778 | 4392 | OMIM:219080 | ACTH-independent macronodular adrenal hyperplasia | . | | | 101 | | |
HP:0002717 | HP:0001579 | Primary hypercortisolism | 2 | GNAS CL E G H | 2778 | 4392 | ORPHA:562 | McCune-Albright syndrome | HP:0040284 - Very rare | | | 101 | | |
HP:0002717 | HP:0011736 | Primary hyperaldosteronism | 2 | KCNJ5 CL E G H | 3762 | 6266 | ORPHA:251274 | Familial hyperaldosteronism type III | | | | 128 | | |
HP:0002717 | HP:0001579 | Primary hypercortisolism | 2 | MEN1 CL E G H | 4221 | 7010 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040283 - Occasional | | | 462 | | |
HP:0002717 | HP:0001579 | Primary hypercortisolism | 2 | PDE11A CL E G H | 50940 | 8773 | OMIM:610475 | Pigmented nodular adrenocortical disease, primary, 2 | . | | | 13 | | |
HP:0002717 | HP:0001579 | Primary hypercortisolism | 2 | PRKACA CL E G H | 5566 | 9380 | OMIM:615830 | Pigmented nodular adrenocortical disease, primary, 4 | . | | | 2 | | |
HP:0002717 | HP:0025436 | Elevated serum 11-deoxycortisol | 2 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:1501 | Adrenocortical carcinoma | HP:0040282 - Frequent | | | 134 | | |
HP:0002717 | HP:0001579 | Primary hypercortisolism | 2 | PRKAR1A CL E G H | 5573 | 9388 | OMIM:610489 | Pigmented nodular adrenocortical disease, primary, 1 | . | | | 134 | | |
HP:0002717 | HP:0011736 | Primary hyperaldosteronism | 2 | SCNN1A CL E G H | 6337 | 10599 | ORPHA:171876 | Generalized pseudohypoaldosteronism type 1 | | | | 67 | | |
HP:0002717 | HP:0011736 | Primary hyperaldosteronism | 2 | SCNN1B CL E G H | 6338 | 10600 | ORPHA:171876 | Generalized pseudohypoaldosteronism type 1 | | | | 61 | | |
HP:0002717 | HP:0011736 | Primary hyperaldosteronism | 2 | SCNN1G CL E G H | 6340 | 10602 | ORPHA:171876 | Generalized pseudohypoaldosteronism type 1 | | | | 57 | | |
HP:0002717 | HP:0011736 | Primary hyperaldosteronism | 2 | SLC12A3 CL E G H | 6559 | 10912 | ORPHA:358 | Gitelman syndrome | HP:0040284 - Very rare | | | 145 | | |
HP:0002717 | HP:0025436 | Elevated serum 11-deoxycortisol | 2 | TERT CL E G H | 7015 | 11730 | ORPHA:1501 | Adrenocortical carcinoma | HP:0040282 - Frequent | | | 238 | | |
HP:0002717 | HP:0025436 | Elevated serum 11-deoxycortisol | 2 | TP53 CL E G H | 7157 | 11998 | ORPHA:1501 | Adrenocortical carcinoma | HP:0040282 - Frequent | | | 911 | | |
HP:0002717 | HP:0025436 | Elevated serum 11-deoxycortisol | 2 | ZNRF3 CL E G H | 84133 | 18126 | ORPHA:1501 | Adrenocortical carcinoma | HP:0040282 - Frequent | | | | | |
HP:0002717 | HP:0011740 | Glucocortocoid-insensitive primary hyperaldosteronism | 3 | CLCN2 CL E G H | 1181 | 2020 | ORPHA:404 | Familial hyperaldosteronism type II | HP:0040281 - Very frequent | | | 44 | | |
HP:0002717 | HP:0011739 | Dexamethasone-suppressible primary hyperaldosteronism | 3 | CYP11B1 CL E G H | 1584 | 2591 | ORPHA:403 | Familial hyperaldosteronism type I | HP:0040280 - Obligate | | | 112 | | |
HP:0002717 | HP:0011739 | Dexamethasone-suppressible primary hyperaldosteronism | 3 | CYP11B2 CL E G H | 1585 | 2592 | ORPHA:403 | Familial hyperaldosteronism type I | HP:0040280 - Obligate | | | 73 | | |
HP:0002717 | HP:0011740 | Glucocortocoid-insensitive primary hyperaldosteronism | 3 | KCNJ5 CL E G H | 3762 | 6266 | ORPHA:251274 | Familial hyperaldosteronism type III | HP:0040281 - Very frequent | | | 128 | | |
HP:0002717 | HP:0011740 | Glucocortocoid-insensitive primary hyperaldosteronism | 3 | SCNN1A CL E G H | 6337 | 10599 | ORPHA:171876 | Generalized pseudohypoaldosteronism type 1 | HP:0040281 - Very frequent | | | 67 | | |
HP:0002717 | HP:0011740 | Glucocortocoid-insensitive primary hyperaldosteronism | 3 | SCNN1B CL E G H | 6338 | 10600 | ORPHA:171876 | Generalized pseudohypoaldosteronism type 1 | HP:0040281 - Very frequent | | | 61 | | |
HP:0002717 | HP:0011740 | Glucocortocoid-insensitive primary hyperaldosteronism | 3 | SCNN1G CL E G H | 6340 | 10602 | ORPHA:171876 | Generalized pseudohypoaldosteronism type 1 | HP:0040281 - Very frequent | | | 57 | | |