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:0011281 | HP:0011281 | Abnormality of urine catecholamine level | 0 | ALK CL E G H | 238 | 427 | ORPHA:635 | Neuroblastoma | | | | 320 | | |
HP:0011281 | HP:0011281 | Abnormality of urine catecholamine level | 0 | CCND1 CL E G H | 595 | 1582 | ORPHA:892 | Von Hippel-Lindau disease | | | | 1 | | |
HP:0011281 | HP:0011281 | Abnormality of urine catecholamine level | 0 | DBH CL E G H | 1621 | 2689 | ORPHA:230 | Dopamine beta-hydroxylase deficiency | | | | 80 | | |
HP:0011281 | HP:0011281 | Abnormality of urine catecholamine level | 0 | DLST CL E G H | 1743 | 2911 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | | | |
HP:0011281 | HP:0011281 | Abnormality of urine catecholamine level | 0 | DNMT3A CL E G H | 1788 | 2978 | ORPHA:276621 | Sporadic pheochromocytoma/secreting paraganglioma | | | | 44 | | |
HP:0011281 | HP:0011281 | Abnormality of urine catecholamine level | 0 | EPAS1 CL E G H | 2034 | 3374 | ORPHA:276621 | Sporadic pheochromocytoma/secreting paraganglioma | | | | 112 | | |
HP:0011281 | HP:0011281 | Abnormality of urine catecholamine level | 0 | FH CL E G H | 2271 | 3700 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | 301 | | |
HP:0011281 | HP:0011281 | Abnormality of urine catecholamine level | 0 | HACE1 CL E G H | 57531 | 21033 | ORPHA:635 | Neuroblastoma | | | | 10 | | |
HP:0011281 | HP:0011281 | Abnormality of urine catecholamine level | 0 | KIF1B CL E G H | 23095 | 16636 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | 202 | | |
HP:0011281 | HP:0011281 | Abnormality of urine catecholamine level | 0 | KIF1B CL E G H | 23095 | 16636 | OMIM:256700 | Neuroblastoma, susceptibility to | . | | | 202 | | |
HP:0011281 | HP:0011281 | Abnormality of urine catecholamine level | 0 | KIF1B CL E G H | 23095 | 16636 | OMIM:171300 | PHEOCHROMOCYTOMA | | | | 202 | | |
HP:0011281 | HP:0011281 | Abnormality of urine catecholamine level | 0 | LIN28B CL E G H | 389421 | 32207 | ORPHA:635 | Neuroblastoma | | | | 1 | | |
HP:0011281 | HP:0011281 | Abnormality of urine catecholamine level | 0 | LMO1 CL E G H | 4004 | 6641 | ORPHA:635 | Neuroblastoma | | | | 1 | | |
HP:0011281 | HP:0011281 | Abnormality of urine catecholamine level | 0 | MAX CL E G H | 4149 | 6913 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | 84 | | |
HP:0011281 | HP:0011281 | Abnormality of urine catecholamine level | 0 | MAX CL E G H | 4149 | 6913 | OMIM:171300 | PHEOCHROMOCYTOMA | | | | 84 | | |
HP:0011281 | HP:0011281 | Abnormality of urine catecholamine level | 0 | MDH2 CL E G H | 4191 | 6971 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | 4 | | |
HP:0011281 | HP:0011281 | Abnormality of urine catecholamine level | 0 | MYCN CL E G H | 4613 | 7559 | ORPHA:635 | Neuroblastoma | | | | 35 | | |
HP:0011281 | HP:0011281 | Abnormality of urine catecholamine level | 0 | NF1 CL E G H | 4763 | 7765 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | 1952 | | |
HP:0011281 | HP:0011281 | Abnormality of urine catecholamine level | 0 | PHOX2B CL E G H | 8929 | 9143 | ORPHA:635 | Neuroblastoma | | | | 86 | | |
HP:0011281 | HP:0011281 | Abnormality of urine catecholamine level | 0 | RET CL E G H | 5979 | 9967 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | 572 | | |
HP:0011281 | HP:0011281 | Abnormality of urine catecholamine level | 0 | RET CL E G H | 5979 | 9967 | OMIM:171400 | Multiple endocrine neoplasia, type IIA | | | | 572 | | |
HP:0011281 | HP:0011281 | Abnormality of urine catecholamine level | 0 | RET CL E G H | 5979 | 9967 | OMIM:162300 | Multiple endocrine neoplasia, type IIB | | | | 572 | | |
HP:0011281 | HP:0011281 | Abnormality of urine catecholamine level | 0 | RET CL E G H | 5979 | 9967 | OMIM:171300 | PHEOCHROMOCYTOMA | | | | 572 | | |
HP:0011281 | HP:0011281 | Abnormality of urine catecholamine level | 0 | RET CL E G H | 5979 | 9967 | ORPHA:276621 | Sporadic pheochromocytoma/secreting paraganglioma | | | | 572 | | |
HP:0011281 | HP:0011281 | Abnormality of urine catecholamine level | 0 | SDHA CL E G H | 6389 | 10680 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | 304 | | |
HP:0011281 | HP:0011281 | Abnormality of urine catecholamine level | 0 | SDHAF2 CL E G H | 54949 | 26034 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | 55 | | |
HP:0011281 | HP:0011281 | Abnormality of urine catecholamine level | 0 | SDHB CL E G H | 6390 | 10681 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | 237 | | |
HP:0011281 | HP:0011281 | Abnormality of urine catecholamine level | 0 | SDHB CL E G H | 6390 | 10681 | OMIM:115310 | Paragangliomas 4 | | | | 237 | | |
HP:0011281 | HP:0011281 | Abnormality of urine catecholamine level | 0 | SDHB CL E G H | 6390 | 10681 | OMIM:171300 | PHEOCHROMOCYTOMA | | | | 237 | | |
HP:0011281 | HP:0011281 | Abnormality of urine catecholamine level | 0 | SDHB CL E G H | 6390 | 10681 | ORPHA:276621 | Sporadic pheochromocytoma/secreting paraganglioma | | | | 237 | | |
HP:0011281 | HP:0011281 | Abnormality of urine catecholamine level | 0 | SDHC CL E G H | 6391 | 10682 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | 147 | | |
HP:0011281 | HP:0011281 | Abnormality of urine catecholamine level | 0 | SDHD CL E G H | 6392 | 10683 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | 129 | | |
HP:0011281 | HP:0011281 | Abnormality of urine catecholamine level | 0 | SDHD CL E G H | 6392 | 10683 | OMIM:171300 | PHEOCHROMOCYTOMA | | | | 129 | | |
HP:0011281 | HP:0011281 | Abnormality of urine catecholamine level | 0 | SDHD CL E G H | 6392 | 10683 | ORPHA:276621 | Sporadic pheochromocytoma/secreting paraganglioma | | | | 129 | | |
HP:0011281 | HP:0011281 | Abnormality of urine catecholamine level | 0 | SLC25A11 CL E G H | 8402 | 10981 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | | | |
HP:0011281 | HP:0011281 | Abnormality of urine catecholamine level | 0 | SLC6A2 CL E G H | 6530 | 11048 | OMIM:604715 | ORTHOSTATIC INTOLERANCE | | | | 60 | | |
HP:0011281 | HP:0011281 | Abnormality of urine catecholamine level | 0 | TMEM127 CL E G H | 55654 | 26038 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | 131 | | |
HP:0011281 | HP:0011281 | Abnormality of urine catecholamine level | 0 | TMEM127 CL E G H | 55654 | 26038 | OMIM:171300 | PHEOCHROMOCYTOMA | | | | 131 | | |
HP:0011281 | HP:0011281 | Abnormality of urine catecholamine level | 0 | TOP2A CL E G H | 7153 | 11989 | ORPHA:635 | Neuroblastoma | | | | 3 | | |
HP:0011281 | HP:0011281 | Abnormality of urine catecholamine level | 0 | VHL CL E G H | 7428 | 12687 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | 490 | | |
HP:0011281 | HP:0011281 | Abnormality of urine catecholamine level | 0 | VHL CL E G H | 7428 | 12687 | OMIM:171300 | PHEOCHROMOCYTOMA | | | | 490 | | |
HP:0011281 | HP:0011281 | Abnormality of urine catecholamine level | 0 | VHL CL E G H | 7428 | 12687 | ORPHA:276621 | Sporadic pheochromocytoma/secreting paraganglioma | | | | 490 | | |
HP:0011281 | HP:0011281 | Abnormality of urine catecholamine level | 0 | VHL CL E G H | 7428 | 12687 | ORPHA:892 | Von Hippel-Lindau disease | | | | 490 | | |
HP:0011281 | HP:0045012 | Decreased urinary catecholamine concentration | 1 | CL E G H | | | | | | | | | | |
HP:0011281 | HP:0011976 | Elevated urinary catecholamines | 1 | ALK CL E G H | 238 | 427 | ORPHA:635 | Neuroblastoma | HP:0040281 - Very frequent | | | 320 | | |
HP:0011281 | HP:0011976 | Elevated urinary catecholamines | 1 | CCND1 CL E G H | 595 | 1582 | ORPHA:892 | Von Hippel-Lindau disease | HP:0040282 - Frequent | | | 1 | | |
HP:0011281 | HP:0011976 | Elevated urinary catecholamines | 1 | DBH CL E G H | 1621 | 2689 | ORPHA:230 | Dopamine beta-hydroxylase deficiency | | | | 80 | | |
HP:0011281 | HP:0011976 | Elevated urinary catecholamines | 1 | DLST CL E G H | 1743 | 2911 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | | | |
HP:0011281 | HP:0011976 | Elevated urinary catecholamines | 1 | DNMT3A CL E G H | 1788 | 2978 | ORPHA:276621 | Sporadic pheochromocytoma/secreting paraganglioma | | | | 44 | | |
HP:0011281 | HP:0011976 | Elevated urinary catecholamines | 1 | EPAS1 CL E G H | 2034 | 3374 | ORPHA:276621 | Sporadic pheochromocytoma/secreting paraganglioma | | | | 112 | | |
HP:0011281 | HP:0011976 | Elevated urinary catecholamines | 1 | FH CL E G H | 2271 | 3700 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | 301 | | |
HP:0011281 | HP:0011976 | Elevated urinary catecholamines | 1 | HACE1 CL E G H | 57531 | 21033 | ORPHA:635 | Neuroblastoma | HP:0040281 - Very frequent | | | 10 | | |
HP:0011281 | HP:0011976 | Elevated urinary catecholamines | 1 | KIF1B CL E G H | 23095 | 16636 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | 202 | | |
HP:0011281 | HP:0011976 | Elevated urinary catecholamines | 1 | KIF1B CL E G H | 23095 | 16636 | OMIM:256700 | Neuroblastoma, susceptibility to | . | | | 202 | | |
HP:0011281 | HP:0011976 | Elevated urinary catecholamines | 1 | KIF1B CL E G H | 23095 | 16636 | OMIM:171300 | PHEOCHROMOCYTOMA | | | | 202 | | |
HP:0011281 | HP:0011976 | Elevated urinary catecholamines | 1 | LIN28B CL E G H | 389421 | 32207 | ORPHA:635 | Neuroblastoma | HP:0040281 - Very frequent | | | 1 | | |
HP:0011281 | HP:0011976 | Elevated urinary catecholamines | 1 | LMO1 CL E G H | 4004 | 6641 | ORPHA:635 | Neuroblastoma | HP:0040281 - Very frequent | | | 1 | | |
HP:0011281 | HP:0011976 | Elevated urinary catecholamines | 1 | MAX CL E G H | 4149 | 6913 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | 84 | | |
HP:0011281 | HP:0011976 | Elevated urinary catecholamines | 1 | MAX CL E G H | 4149 | 6913 | OMIM:171300 | PHEOCHROMOCYTOMA | | | | 84 | | |
HP:0011281 | HP:0011976 | Elevated urinary catecholamines | 1 | MDH2 CL E G H | 4191 | 6971 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | 4 | | |
HP:0011281 | HP:0011976 | Elevated urinary catecholamines | 1 | MYCN CL E G H | 4613 | 7559 | ORPHA:635 | Neuroblastoma | HP:0040281 - Very frequent | | | 35 | | |
HP:0011281 | HP:0011976 | Elevated urinary catecholamines | 1 | NF1 CL E G H | 4763 | 7765 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | 1952 | | |
HP:0011281 | HP:0011976 | Elevated urinary catecholamines | 1 | PHOX2B CL E G H | 8929 | 9143 | ORPHA:635 | Neuroblastoma | HP:0040281 - Very frequent | | | 86 | | |
HP:0011281 | HP:0011976 | Elevated urinary catecholamines | 1 | RET CL E G H | 5979 | 9967 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | 572 | | |
HP:0011281 | HP:0011976 | Elevated urinary catecholamines | 1 | RET CL E G H | 5979 | 9967 | OMIM:171400 | Multiple endocrine neoplasia, type IIA | | | | 572 | | |
HP:0011281 | HP:0011976 | Elevated urinary catecholamines | 1 | RET CL E G H | 5979 | 9967 | OMIM:162300 | Multiple endocrine neoplasia, type IIB | | | | 572 | | |
HP:0011281 | HP:0011976 | Elevated urinary catecholamines | 1 | RET CL E G H | 5979 | 9967 | OMIM:171300 | PHEOCHROMOCYTOMA | | | | 572 | | |
HP:0011281 | HP:0011976 | Elevated urinary catecholamines | 1 | RET CL E G H | 5979 | 9967 | ORPHA:276621 | Sporadic pheochromocytoma/secreting paraganglioma | | | | 572 | | |
HP:0011281 | HP:0011976 | Elevated urinary catecholamines | 1 | SDHA CL E G H | 6389 | 10680 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | 304 | | |
HP:0011281 | HP:0011976 | Elevated urinary catecholamines | 1 | SDHAF2 CL E G H | 54949 | 26034 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | 55 | | |
HP:0011281 | HP:0011976 | Elevated urinary catecholamines | 1 | SDHB CL E G H | 6390 | 10681 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | 237 | | |
HP:0011281 | HP:0011976 | Elevated urinary catecholamines | 1 | SDHB CL E G H | 6390 | 10681 | OMIM:115310 | Paragangliomas 4 | . | | | 237 | | |
HP:0011281 | HP:0011976 | Elevated urinary catecholamines | 1 | SDHB CL E G H | 6390 | 10681 | OMIM:171300 | PHEOCHROMOCYTOMA | | | | 237 | | |
HP:0011281 | HP:0011976 | Elevated urinary catecholamines | 1 | SDHB CL E G H | 6390 | 10681 | ORPHA:276621 | Sporadic pheochromocytoma/secreting paraganglioma | | | | 237 | | |
HP:0011281 | HP:0011976 | Elevated urinary catecholamines | 1 | SDHC CL E G H | 6391 | 10682 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | 147 | | |
HP:0011281 | HP:0011976 | Elevated urinary catecholamines | 1 | SDHD CL E G H | 6392 | 10683 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | 129 | | |
HP:0011281 | HP:0011976 | Elevated urinary catecholamines | 1 | SDHD CL E G H | 6392 | 10683 | OMIM:171300 | PHEOCHROMOCYTOMA | | | | 129 | | |
HP:0011281 | HP:0011976 | Elevated urinary catecholamines | 1 | SDHD CL E G H | 6392 | 10683 | ORPHA:276621 | Sporadic pheochromocytoma/secreting paraganglioma | | | | 129 | | |
HP:0011281 | HP:0011976 | Elevated urinary catecholamines | 1 | SLC25A11 CL E G H | 8402 | 10981 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | | | |
HP:0011281 | HP:0011976 | Elevated urinary catecholamines | 1 | SLC6A2 CL E G H | 6530 | 11048 | OMIM:604715 | ORTHOSTATIC INTOLERANCE | | | | 60 | | |
HP:0011281 | HP:0011976 | Elevated urinary catecholamines | 1 | TMEM127 CL E G H | 55654 | 26038 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | 131 | | |
HP:0011281 | HP:0011976 | Elevated urinary catecholamines | 1 | TMEM127 CL E G H | 55654 | 26038 | OMIM:171300 | PHEOCHROMOCYTOMA | | | | 131 | | |
HP:0011281 | HP:0011976 | Elevated urinary catecholamines | 1 | TOP2A CL E G H | 7153 | 11989 | ORPHA:635 | Neuroblastoma | HP:0040281 - Very frequent | | | 3 | | |
HP:0011281 | HP:0011976 | Elevated urinary catecholamines | 1 | VHL CL E G H | 7428 | 12687 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | 490 | | |
HP:0011281 | HP:0011976 | Elevated urinary catecholamines | 1 | VHL CL E G H | 7428 | 12687 | OMIM:171300 | PHEOCHROMOCYTOMA | | | | 490 | | |
HP:0011281 | HP:0011976 | Elevated urinary catecholamines | 1 | VHL CL E G H | 7428 | 12687 | ORPHA:276621 | Sporadic pheochromocytoma/secreting paraganglioma | | | | 490 | | |
HP:0011281 | HP:0011976 | Elevated urinary catecholamines | 1 | VHL CL E G H | 7428 | 12687 | ORPHA:892 | Von Hippel-Lindau disease | HP:0040282 - Frequent | | | 490 | | |
HP:0011281 | HP:0011979 | Elevated urinary dopamine | 2 | DBH CL E G H | 1621 | 2689 | ORPHA:230 | Dopamine beta-hydroxylase deficiency | HP:0040281 - Very frequent | | | 80 | | |
HP:0011281 | HP:0011979 | Elevated urinary dopamine | 2 | DLST CL E G H | 1743 | 2911 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | | | |
HP:0011281 | HP:0003639 | Elevated urinary epinephrine | 2 | DLST CL E G H | 1743 | 2911 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | | | |
HP:0011281 | HP:0003345 | Elevated urinary norepinephrine | 2 | DLST CL E G H | 1743 | 2911 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | | | |
HP:0011281 | HP:0011979 | Elevated urinary dopamine | 2 | DNMT3A CL E G H | 1788 | 2978 | ORPHA:276621 | Sporadic pheochromocytoma/secreting paraganglioma | HP:0040282 - Frequent | | | 44 | | |
HP:0011281 | HP:0003639 | Elevated urinary epinephrine | 2 | DNMT3A CL E G H | 1788 | 2978 | ORPHA:276621 | Sporadic pheochromocytoma/secreting paraganglioma | HP:0040282 - Frequent | | | 44 | | |
HP:0011281 | HP:0003345 | Elevated urinary norepinephrine | 2 | DNMT3A CL E G H | 1788 | 2978 | ORPHA:276621 | Sporadic pheochromocytoma/secreting paraganglioma | HP:0040282 - Frequent | | | 44 | | |
HP:0011281 | HP:0003345 | Elevated urinary norepinephrine | 2 | EPAS1 CL E G H | 2034 | 3374 | ORPHA:276621 | Sporadic pheochromocytoma/secreting paraganglioma | HP:0040282 - Frequent | | | 112 | | |
HP:0011281 | HP:0011979 | Elevated urinary dopamine | 2 | EPAS1 CL E G H | 2034 | 3374 | ORPHA:276621 | Sporadic pheochromocytoma/secreting paraganglioma | HP:0040282 - Frequent | | | 112 | | |
HP:0011281 | HP:0003639 | Elevated urinary epinephrine | 2 | EPAS1 CL E G H | 2034 | 3374 | ORPHA:276621 | Sporadic pheochromocytoma/secreting paraganglioma | HP:0040282 - Frequent | | | 112 | | |
HP:0011281 | HP:0003345 | Elevated urinary norepinephrine | 2 | FH CL E G H | 2271 | 3700 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | 301 | | |
HP:0011281 | HP:0011979 | Elevated urinary dopamine | 2 | FH CL E G H | 2271 | 3700 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | 301 | | |
HP:0011281 | HP:0003639 | Elevated urinary epinephrine | 2 | FH CL E G H | 2271 | 3700 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | 301 | | |
HP:0011281 | HP:0011979 | Elevated urinary dopamine | 2 | KIF1B CL E G H | 23095 | 16636 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | 202 | | |
HP:0011281 | HP:0003639 | Elevated urinary epinephrine | 2 | KIF1B CL E G H | 23095 | 16636 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | 202 | | |
HP:0011281 | HP:0003345 | Elevated urinary norepinephrine | 2 | KIF1B CL E G H | 23095 | 16636 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | 202 | | |
HP:0011281 | HP:0011979 | Elevated urinary dopamine | 2 | KIF1B CL E G H | 23095 | 16636 | OMIM:256700 | Neuroblastoma, susceptibility to | . | | | 202 | | |
HP:0011281 | HP:0003345 | Elevated urinary norepinephrine | 2 | KIF1B CL E G H | 23095 | 16636 | OMIM:171300 | PHEOCHROMOCYTOMA | . | | | 202 | | |
HP:0011281 | HP:0003345 | Elevated urinary norepinephrine | 2 | MAX CL E G H | 4149 | 6913 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | 84 | | |
HP:0011281 | HP:0011979 | Elevated urinary dopamine | 2 | MAX CL E G H | 4149 | 6913 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | 84 | | |
HP:0011281 | HP:0003639 | Elevated urinary epinephrine | 2 | MAX CL E G H | 4149 | 6913 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | 84 | | |
HP:0011281 | HP:0003345 | Elevated urinary norepinephrine | 2 | MAX CL E G H | 4149 | 6913 | OMIM:171300 | PHEOCHROMOCYTOMA | . | | | 84 | | |
HP:0011281 | HP:0003345 | Elevated urinary norepinephrine | 2 | MDH2 CL E G H | 4191 | 6971 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | 4 | | |
HP:0011281 | HP:0011979 | Elevated urinary dopamine | 2 | MDH2 CL E G H | 4191 | 6971 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | 4 | | |
HP:0011281 | HP:0003639 | Elevated urinary epinephrine | 2 | MDH2 CL E G H | 4191 | 6971 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | 4 | | |
HP:0011281 | HP:0011979 | Elevated urinary dopamine | 2 | NF1 CL E G H | 4763 | 7765 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | 1952 | | |
HP:0011281 | HP:0003345 | Elevated urinary norepinephrine | 2 | NF1 CL E G H | 4763 | 7765 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | 1952 | | |
HP:0011281 | HP:0003639 | Elevated urinary epinephrine | 2 | NF1 CL E G H | 4763 | 7765 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | 1952 | | |
HP:0011281 | HP:0003345 | Elevated urinary norepinephrine | 2 | RET CL E G H | 5979 | 9967 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | 572 | | |
HP:0011281 | HP:0011979 | Elevated urinary dopamine | 2 | RET CL E G H | 5979 | 9967 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | 572 | | |
HP:0011281 | HP:0003639 | Elevated urinary epinephrine | 2 | RET CL E G H | 5979 | 9967 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | 572 | | |
HP:0011281 | HP:0003345 | Elevated urinary norepinephrine | 2 | RET CL E G H | 5979 | 9967 | OMIM:171400 | Multiple endocrine neoplasia, type IIA | | | | 572 | | |
HP:0011281 | HP:0011979 | Elevated urinary dopamine | 2 | RET CL E G H | 5979 | 9967 | OMIM:171400 | Multiple endocrine neoplasia, type IIA | | | | 572 | | |
HP:0011281 | HP:0003639 | Elevated urinary epinephrine | 2 | RET CL E G H | 5979 | 9967 | OMIM:171400 | Multiple endocrine neoplasia, type IIA | | | | 572 | | |
HP:0011281 | HP:0003639 | Elevated urinary epinephrine | 2 | RET CL E G H | 5979 | 9967 | OMIM:162300 | Multiple endocrine neoplasia, type IIB | . | | | 572 | | |
HP:0011281 | HP:0003345 | Elevated urinary norepinephrine | 2 | RET CL E G H | 5979 | 9967 | OMIM:171300 | PHEOCHROMOCYTOMA | . | | | 572 | | |
HP:0011281 | HP:0003345 | Elevated urinary norepinephrine | 2 | RET CL E G H | 5979 | 9967 | ORPHA:276621 | Sporadic pheochromocytoma/secreting paraganglioma | HP:0040282 - Frequent | | | 572 | | |
HP:0011281 | HP:0011979 | Elevated urinary dopamine | 2 | RET CL E G H | 5979 | 9967 | ORPHA:276621 | Sporadic pheochromocytoma/secreting paraganglioma | HP:0040282 - Frequent | | | 572 | | |
HP:0011281 | HP:0003639 | Elevated urinary epinephrine | 2 | RET CL E G H | 5979 | 9967 | ORPHA:276621 | Sporadic pheochromocytoma/secreting paraganglioma | HP:0040282 - Frequent | | | 572 | | |
HP:0011281 | HP:0011979 | Elevated urinary dopamine | 2 | SDHA CL E G H | 6389 | 10680 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | 304 | | |
HP:0011281 | HP:0003639 | Elevated urinary epinephrine | 2 | SDHA CL E G H | 6389 | 10680 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | 304 | | |
HP:0011281 | HP:0003345 | Elevated urinary norepinephrine | 2 | SDHA CL E G H | 6389 | 10680 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | 304 | | |
HP:0011281 | HP:0011979 | Elevated urinary dopamine | 2 | SDHAF2 CL E G H | 54949 | 26034 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | 55 | | |
HP:0011281 | HP:0003639 | Elevated urinary epinephrine | 2 | SDHAF2 CL E G H | 54949 | 26034 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | 55 | | |
HP:0011281 | HP:0003345 | Elevated urinary norepinephrine | 2 | SDHAF2 CL E G H | 54949 | 26034 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | 55 | | |
HP:0011281 | HP:0003345 | Elevated urinary norepinephrine | 2 | SDHB CL E G H | 6390 | 10681 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | 237 | | |
HP:0011281 | HP:0011979 | Elevated urinary dopamine | 2 | SDHB CL E G H | 6390 | 10681 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | 237 | | |
HP:0011281 | HP:0003639 | Elevated urinary epinephrine | 2 | SDHB CL E G H | 6390 | 10681 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | 237 | | |
HP:0011281 | HP:0003345 | Elevated urinary norepinephrine | 2 | SDHB CL E G H | 6390 | 10681 | OMIM:171300 | PHEOCHROMOCYTOMA | . | | | 237 | | |
HP:0011281 | HP:0003345 | Elevated urinary norepinephrine | 2 | SDHB CL E G H | 6390 | 10681 | ORPHA:276621 | Sporadic pheochromocytoma/secreting paraganglioma | HP:0040282 - Frequent | | | 237 | | |
HP:0011281 | HP:0011979 | Elevated urinary dopamine | 2 | SDHB CL E G H | 6390 | 10681 | ORPHA:276621 | Sporadic pheochromocytoma/secreting paraganglioma | HP:0040282 - Frequent | | | 237 | | |
HP:0011281 | HP:0003639 | Elevated urinary epinephrine | 2 | SDHB CL E G H | 6390 | 10681 | ORPHA:276621 | Sporadic pheochromocytoma/secreting paraganglioma | HP:0040282 - Frequent | | | 237 | | |
HP:0011281 | HP:0003345 | Elevated urinary norepinephrine | 2 | SDHC CL E G H | 6391 | 10682 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | 147 | | |
HP:0011281 | HP:0011979 | Elevated urinary dopamine | 2 | SDHC CL E G H | 6391 | 10682 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | 147 | | |
HP:0011281 | HP:0003639 | Elevated urinary epinephrine | 2 | SDHC CL E G H | 6391 | 10682 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | 147 | | |
HP:0011281 | HP:0011979 | Elevated urinary dopamine | 2 | SDHD CL E G H | 6392 | 10683 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | 129 | | |
HP:0011281 | HP:0003345 | Elevated urinary norepinephrine | 2 | SDHD CL E G H | 6392 | 10683 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | 129 | | |
HP:0011281 | HP:0003639 | Elevated urinary epinephrine | 2 | SDHD CL E G H | 6392 | 10683 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | 129 | | |
HP:0011281 | HP:0003345 | Elevated urinary norepinephrine | 2 | SDHD CL E G H | 6392 | 10683 | OMIM:171300 | PHEOCHROMOCYTOMA | . | | | 129 | | |
HP:0011281 | HP:0011979 | Elevated urinary dopamine | 2 | SDHD CL E G H | 6392 | 10683 | ORPHA:276621 | Sporadic pheochromocytoma/secreting paraganglioma | HP:0040282 - Frequent | | | 129 | | |
HP:0011281 | HP:0003639 | Elevated urinary epinephrine | 2 | SDHD CL E G H | 6392 | 10683 | ORPHA:276621 | Sporadic pheochromocytoma/secreting paraganglioma | HP:0040282 - Frequent | | | 129 | | |
HP:0011281 | HP:0003345 | Elevated urinary norepinephrine | 2 | SDHD CL E G H | 6392 | 10683 | ORPHA:276621 | Sporadic pheochromocytoma/secreting paraganglioma | HP:0040282 - Frequent | | | 129 | | |
HP:0011281 | HP:0003639 | Elevated urinary epinephrine | 2 | SLC25A11 CL E G H | 8402 | 10981 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | | | |
HP:0011281 | HP:0003345 | Elevated urinary norepinephrine | 2 | SLC25A11 CL E G H | 8402 | 10981 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | | | |
HP:0011281 | HP:0011979 | Elevated urinary dopamine | 2 | SLC25A11 CL E G H | 8402 | 10981 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | | | |
HP:0011281 | HP:0003345 | Elevated urinary norepinephrine | 2 | SLC6A2 CL E G H | 6530 | 11048 | OMIM:604715 | ORTHOSTATIC INTOLERANCE | | | | 60 | | |
HP:0011281 | HP:0003639 | Elevated urinary epinephrine | 2 | TMEM127 CL E G H | 55654 | 26038 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | 131 | | |
HP:0011281 | HP:0003345 | Elevated urinary norepinephrine | 2 | TMEM127 CL E G H | 55654 | 26038 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | 131 | | |
HP:0011281 | HP:0011979 | Elevated urinary dopamine | 2 | TMEM127 CL E G H | 55654 | 26038 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | 131 | | |
HP:0011281 | HP:0003345 | Elevated urinary norepinephrine | 2 | TMEM127 CL E G H | 55654 | 26038 | OMIM:171300 | PHEOCHROMOCYTOMA | . | | | 131 | | |
HP:0011281 | HP:0003639 | Elevated urinary epinephrine | 2 | VHL CL E G H | 7428 | 12687 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | 490 | | |
HP:0011281 | HP:0003345 | Elevated urinary norepinephrine | 2 | VHL CL E G H | 7428 | 12687 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | 490 | | |
HP:0011281 | HP:0011979 | Elevated urinary dopamine | 2 | VHL CL E G H | 7428 | 12687 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | 490 | | |
HP:0011281 | HP:0003345 | Elevated urinary norepinephrine | 2 | VHL CL E G H | 7428 | 12687 | OMIM:171300 | PHEOCHROMOCYTOMA | . | | | 490 | | |
HP:0011281 | HP:0011979 | Elevated urinary dopamine | 2 | VHL CL E G H | 7428 | 12687 | ORPHA:276621 | Sporadic pheochromocytoma/secreting paraganglioma | HP:0040282 - Frequent | | | 490 | | |
HP:0011281 | HP:0003639 | Elevated urinary epinephrine | 2 | VHL CL E G H | 7428 | 12687 | ORPHA:276621 | Sporadic pheochromocytoma/secreting paraganglioma | HP:0040282 - Frequent | | | 490 | | |
HP:0011281 | HP:0003345 | Elevated urinary norepinephrine | 2 | VHL CL E G H | 7428 | 12687 | ORPHA:276621 | Sporadic pheochromocytoma/secreting paraganglioma | HP:0040282 - Frequent | | | 490 | | |