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:0100530 | HP:0100530 | Abnormal calcium-phosphate regulating hormone level | 0 | ADORA2A CL E G H | 135 | 263 | ORPHA:363549 | Acute encephalopathy with biphasic seizures and late reduced diffusion | | | | 1 | | |
HP:0100530 | HP:0100530 | Abnormal calcium-phosphate regulating hormone level | 0 | AIRE CL E G H | 326 | 360 | OMIM:240300 | AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1 | | | | 92 | | |
HP:0100530 | HP:0100530 | Abnormal calcium-phosphate regulating hormone level | 0 | AIRE CL E G H | 326 | 360 | ORPHA:3453 | Autoimmune polyendocrinopathy type 1 | HP:0040281 - Very frequent | | | 92 | | |
HP:0100530 | HP:0100530 | Abnormal calcium-phosphate regulating hormone level | 0 | CASR CL E G H | 846 | 1514 | OMIM:239200 | Hyperparathyroidism, neonatal severe | | | | 272 | | |
HP:0100530 | HP:0100530 | Abnormal calcium-phosphate regulating hormone level | 0 | CASR CL E G H | 846 | 1514 | OMIM:601198 | Hypocalcemia, autosomal dominant 1 | | | | 272 | | |
HP:0100530 | HP:0100530 | Abnormal calcium-phosphate regulating hormone level | 0 | CASR CL E G H | 846 | 1514 | ORPHA:417 | Neonatal severe primary hyperparathyroidism | HP:0040281 - Very frequent | | | 272 | | |
HP:0100530 | HP:0100530 | Abnormal calcium-phosphate regulating hormone level | 0 | CDC73 CL E G H | 79577 | 16783 | ORPHA:99879 | Familial isolated hyperparathyroidism | | | | 169 | | |
HP:0100530 | HP:0100530 | Abnormal calcium-phosphate regulating hormone level | 0 | CDC73 CL E G H | 79577 | 16783 | ORPHA:99880 | Hyperparathyroidism-jaw tumor syndrome | | | | 169 | | |
HP:0100530 | HP:0100530 | Abnormal calcium-phosphate regulating hormone level | 0 | CDC73 CL E G H | 79577 | 16783 | ORPHA:143 | Parathyroid carcinoma | | | | 169 | | |
HP:0100530 | HP:0100530 | Abnormal calcium-phosphate regulating hormone level | 0 | CDKN1A CL E G H | 1026 | 1784 | ORPHA:652 | Multiple endocrine neoplasia type 1 | | | | 2 | | |
HP:0100530 | HP:0100530 | Abnormal calcium-phosphate regulating hormone level | 0 | CDKN1B CL E G H | 1027 | 1785 | ORPHA:652 | Multiple endocrine neoplasia type 1 | | | | 102 | | |
HP:0100530 | HP:0100530 | Abnormal calcium-phosphate regulating hormone level | 0 | CDKN1B CL E G H | 1027 | 1785 | ORPHA:276152 | Multiple endocrine neoplasia type 4 | | | | 102 | | |
HP:0100530 | HP:0100530 | Abnormal calcium-phosphate regulating hormone level | 0 | CDKN2B CL E G H | 1030 | 1788 | ORPHA:652 | Multiple endocrine neoplasia type 1 | | | | 1 | | |
HP:0100530 | HP:0100530 | Abnormal calcium-phosphate regulating hormone level | 0 | CDKN2C CL E G H | 1031 | 1789 | ORPHA:652 | Multiple endocrine neoplasia type 1 | | | | | | |
HP:0100530 | HP:0100530 | Abnormal calcium-phosphate regulating hormone level | 0 | CLDN16 CL E G H | 10686 | 2037 | OMIM:248250 | Hypomagnesemia 3, renal | | | | 58 | | |
HP:0100530 | HP:0100530 | Abnormal calcium-phosphate regulating hormone level | 0 | CLDN19 CL E G H | 149461 | 2040 | ORPHA:2196 | Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement | HP:0040281 - Very frequent | | | 42 | | |
HP:0100530 | HP:0100530 | Abnormal calcium-phosphate regulating hormone level | 0 | CYP27B1 CL E G H | 1594 | 2606 | ORPHA:289157 | Hypocalcemic vitamin D-dependent rickets | | | | 41 | | |
HP:0100530 | HP:0100530 | Abnormal calcium-phosphate regulating hormone level | 0 | CYP27B1 CL E G H | 1594 | 2606 | OMIM:264700 | Vitamin D hydroxylation-deficient rickets, type 1A | | | | 41 | | |
HP:0100530 | HP:0100530 | Abnormal calcium-phosphate regulating hormone level | 0 | CYP2R1 CL E G H | 120227 | 20580 | ORPHA:289157 | Hypocalcemic vitamin D-dependent rickets | | | | 5 | | |
HP:0100530 | HP:0100530 | Abnormal calcium-phosphate regulating hormone level | 0 | CYP3A4 CL E G H | 1576 | 2637 | OMIM:619073 | VITAMIN D-DEPENDENT RICKETS, TYPE 3; VDDR3 | | | | 2 | | |
HP:0100530 | HP:0100530 | Abnormal calcium-phosphate regulating hormone level | 0 | DLST CL E G H | 1743 | 2911 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | | | |
HP:0100530 | HP:0100530 | Abnormal calcium-phosphate regulating hormone level | 0 | FAM20A CL E G H | 54757 | 23015 | ORPHA:1031 | Enamel-renal syndrome | HP:0040281 - Very frequent | | | 16 | | |
HP:0100530 | HP:0100530 | Abnormal calcium-phosphate regulating hormone level | 0 | FH CL E G H | 2271 | 3700 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | 301 | | |
HP:0100530 | HP:0100530 | Abnormal calcium-phosphate regulating hormone level | 0 | GCM2 CL E G H | 9247 | 4198 | ORPHA:99879 | Familial isolated hyperparathyroidism | | | | 51 | | |
HP:0100530 | HP:0100530 | Abnormal calcium-phosphate regulating hormone level | 0 | GCM2 CL E G H | 9247 | 4198 | OMIM:618883 | HYPOPARATHYROIDISM, FAMILIAL ISOLATED, 2; FIH2 | | | | 51 | | |
HP:0100530 | HP:0100530 | Abnormal calcium-phosphate regulating hormone level | 0 | GNAS CL E G H | 2778 | 4392 | ORPHA:79443 | Pseudohypoparathyroidism type 1A | | | | 101 | | |
HP:0100530 | HP:0100530 | Abnormal calcium-phosphate regulating hormone level | 0 | GNAS CL E G H | 2778 | 4392 | ORPHA:94089 | Pseudohypoparathyroidism type 1B | | | | 101 | | |
HP:0100530 | HP:0100530 | Abnormal calcium-phosphate regulating hormone level | 0 | GNAS CL E G H | 2778 | 4392 | ORPHA:79444 | Pseudohypoparathyroidism type 1C | | | | 101 | | |
HP:0100530 | HP:0100530 | Abnormal calcium-phosphate regulating hormone level | 0 | GNAS CL E G H | 2778 | 4392 | OMIM:103580 | Pseudohypoparathyroidism, type IA | | | | 101 | | |
HP:0100530 | HP:0100530 | Abnormal calcium-phosphate regulating hormone level | 0 | GNAS CL E G H | 2778 | 4392 | OMIM:603233 | Pseudohypoparathyroidism, type IB | | | | 101 | | |
HP:0100530 | HP:0100530 | Abnormal calcium-phosphate regulating hormone level | 0 | GNAS CL E G H | 2778 | 4392 | OMIM:612462 | Pseudohypoparathyroidism, type IC | | | | 101 | | |
HP:0100530 | HP:0100530 | Abnormal calcium-phosphate regulating hormone level | 0 | GNAS-AS1 CL E G H | 149775 | 24872 | OMIM:603233 | Pseudohypoparathyroidism, type IB | | | | 1 | | |
HP:0100530 | HP:0100530 | Abnormal calcium-phosphate regulating hormone level | 0 | KIF1B CL E G H | 23095 | 16636 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | 202 | | |
HP:0100530 | HP:0100530 | Abnormal calcium-phosphate regulating hormone level | 0 | KL CL E G H | 9365 | 6344 | OMIM:617994 | TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 3; HFTC3 | | | | 68 | | |
HP:0100530 | HP:0100530 | Abnormal calcium-phosphate regulating hormone level | 0 | MAX CL E G H | 4149 | 6913 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | 84 | | |
HP:0100530 | HP:0100530 | Abnormal calcium-phosphate regulating hormone level | 0 | MDH2 CL E G H | 4191 | 6971 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | 4 | | |
HP:0100530 | HP:0100530 | Abnormal calcium-phosphate regulating hormone level | 0 | MEN1 CL E G H | 4221 | 7010 | ORPHA:99879 | Familial isolated hyperparathyroidism | | | | 462 | | |
HP:0100530 | HP:0100530 | Abnormal calcium-phosphate regulating hormone level | 0 | MEN1 CL E G H | 4221 | 7010 | ORPHA:652 | Multiple endocrine neoplasia type 1 | | | | 462 | | |
HP:0100530 | HP:0100530 | Abnormal calcium-phosphate regulating hormone level | 0 | NF1 CL E G H | 4763 | 7765 | ORPHA:97685 | 17q11 microdeletion syndrome | | | | 1952 | | |
HP:0100530 | HP:0100530 | Abnormal calcium-phosphate regulating hormone level | 0 | NF1 CL E G H | 4763 | 7765 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | 1952 | | |
HP:0100530 | HP:0100530 | Abnormal calcium-phosphate regulating hormone level | 0 | OCRL CL E G H | 4952 | 8108 | ORPHA:534 | Oculocerebrorenal syndrome of Lowe | HP:0040282 - Frequent | | | 88 | | |
HP:0100530 | HP:0100530 | Abnormal calcium-phosphate regulating hormone level | 0 | PDE4D CL E G H | 5144 | 8783 | ORPHA:280651 | Acrodysostosis with multiple hormone resistance | | | | 113 | | |
HP:0100530 | HP:0100530 | Abnormal calcium-phosphate regulating hormone level | 0 | PDE4D CL E G H | 5144 | 8783 | ORPHA:439822 | PDE4D haploinsufficiency syndrome | | | | 113 | | |
HP:0100530 | HP:0100530 | Abnormal calcium-phosphate regulating hormone level | 0 | PHEX CL E G H | 5251 | 8918 | OMIM:307800 | Hypophosphatemic rickets, X-linked dominant | | | | 217 | | |
HP:0100530 | HP:0100530 | Abnormal calcium-phosphate regulating hormone level | 0 | PRKAR1A CL E G H | 5573 | 9388 | OMIM:101800 | Acrodysostosis 1, with or without hormone resistance | | | | 134 | | |
HP:0100530 | HP:0100530 | Abnormal calcium-phosphate regulating hormone level | 0 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:280651 | Acrodysostosis with multiple hormone resistance | | | | 134 | | |
HP:0100530 | HP:0100530 | Abnormal calcium-phosphate regulating hormone level | 0 | PTH CL E G H | 5741 | 9606 | OMIM:146200 | Hypoparathyroidism, familial isolated | | | | 16 | | |
HP:0100530 | HP:0100530 | Abnormal calcium-phosphate regulating hormone level | 0 | RET CL E G H | 5979 | 9967 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | 572 | | |
HP:0100530 | HP:0100530 | Abnormal calcium-phosphate regulating hormone level | 0 | RET CL E G H | 5979 | 9967 | OMIM:171400 | Multiple endocrine neoplasia, type IIA | | | | 572 | | |
HP:0100530 | HP:0100530 | Abnormal calcium-phosphate regulating hormone level | 0 | RET CL E G H | 5979 | 9967 | OMIM:162300 | Multiple endocrine neoplasia, type IIB | | | | 572 | | |
HP:0100530 | HP:0100530 | Abnormal calcium-phosphate regulating hormone level | 0 | RNU4ATAC CL E G H | 100151683 | 34016 | ORPHA:2636 | Microcephalic osteodysplastic primordial dwarfism types I and III | HP:0040281 - Very frequent | | | 15 | | |
HP:0100530 | HP:0100530 | Abnormal calcium-phosphate regulating hormone level | 0 | SDHA CL E G H | 6389 | 10680 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | 304 | | |
HP:0100530 | HP:0100530 | Abnormal calcium-phosphate regulating hormone level | 0 | SDHAF2 CL E G H | 54949 | 26034 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | 55 | | |
HP:0100530 | HP:0100530 | Abnormal calcium-phosphate regulating hormone level | 0 | SDHB CL E G H | 6390 | 10681 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | 237 | | |
HP:0100530 | HP:0100530 | Abnormal calcium-phosphate regulating hormone level | 0 | SDHC CL E G H | 6391 | 10682 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | 147 | | |
HP:0100530 | HP:0100530 | Abnormal calcium-phosphate regulating hormone level | 0 | SDHD CL E G H | 6392 | 10683 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | 129 | | |
HP:0100530 | HP:0100530 | Abnormal calcium-phosphate regulating hormone level | 0 | SLC25A11 CL E G H | 8402 | 10981 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | | | |
HP:0100530 | HP:0100530 | Abnormal calcium-phosphate regulating hormone level | 0 | SLC34A1 CL E G H | 6569 | 11019 | ORPHA:157215 | Hereditary hypophosphatemic rickets with hypercalciuria | | | | 47 | | |
HP:0100530 | HP:0100530 | Abnormal calcium-phosphate regulating hormone level | 0 | SLC34A3 CL E G H | 142680 | 20305 | ORPHA:157215 | Hereditary hypophosphatemic rickets with hypercalciuria | | | | 52 | | |
HP:0100530 | HP:0100530 | Abnormal calcium-phosphate regulating hormone level | 0 | SOST CL E G H | 50964 | 13771 | OMIM:122860 | Craniodiaphyseal dysplasia, autosomal dominant | | | | 26 | | |
HP:0100530 | HP:0100530 | Abnormal calcium-phosphate regulating hormone level | 0 | STX16 CL E G H | 8675 | 11431 | ORPHA:94089 | Pseudohypoparathyroidism type 1B | | | | 86 | | |
HP:0100530 | HP:0100530 | Abnormal calcium-phosphate regulating hormone level | 0 | STX16 CL E G H | 8675 | 11431 | OMIM:603233 | Pseudohypoparathyroidism, type IB | | | | 86 | | |
HP:0100530 | HP:0100530 | Abnormal calcium-phosphate regulating hormone level | 0 | TBX1 CL E G H | 6899 | 11592 | OMIM:188400 | Digeorge syndrome | | | | 32 | | |
HP:0100530 | HP:0100530 | Abnormal calcium-phosphate regulating hormone level | 0 | TMEM127 CL E G H | 55654 | 26038 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | 131 | | |
HP:0100530 | HP:0100530 | Abnormal calcium-phosphate regulating hormone level | 0 | TRPV6 CL E G H | 55503 | 14006 | ORPHA:417 | Neonatal severe primary hyperparathyroidism | HP:0040281 - Very frequent | | | 4 | | |
HP:0100530 | HP:0100530 | Abnormal calcium-phosphate regulating hormone level | 0 | VDR CL E G H | 7421 | 12679 | OMIM:277440 | Vitamin d-dependent rickets, type 2A | | | | 104 | | |
HP:0100530 | HP:0100530 | Abnormal calcium-phosphate regulating hormone level | 0 | VHL CL E G H | 7428 | 12687 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | | | | 490 | | |
HP:0100530 | HP:0032308 | Increased circulating procalcitonin concentration | 1 | ADORA2A CL E G H | 135 | 263 | ORPHA:363549 | Acute encephalopathy with biphasic seizures and late reduced diffusion | HP:0040282 - Frequent | | | 1 | | |
HP:0100530 | HP:0031817 | Decreased circulating parathyroid hormone level | 1 | AIRE CL E G H | 326 | 360 | OMIM:240300 | AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1 | | | | 92 | | |
HP:0100530 | HP:0003165 | Elevated circulating parathyroid hormone level | 1 | CASR CL E G H | 846 | 1514 | OMIM:239200 | Hyperparathyroidism, neonatal severe | . | | | 272 | | |
HP:0100530 | HP:0031817 | Decreased circulating parathyroid hormone level | 1 | CASR CL E G H | 846 | 1514 | OMIM:601198 | Hypocalcemia, autosomal dominant 1 | | | | 272 | | |
HP:0100530 | HP:0003165 | Elevated circulating parathyroid hormone level | 1 | CDC73 CL E G H | 79577 | 16783 | ORPHA:99879 | Familial isolated hyperparathyroidism | HP:0040281 - Very frequent | | | 169 | | |
HP:0100530 | HP:0003165 | Elevated circulating parathyroid hormone level | 1 | CDC73 CL E G H | 79577 | 16783 | ORPHA:99880 | Hyperparathyroidism-jaw tumor syndrome | HP:0040281 - Very frequent | | | 169 | | |
HP:0100530 | HP:0003165 | Elevated circulating parathyroid hormone level | 1 | CDC73 CL E G H | 79577 | 16783 | ORPHA:143 | Parathyroid carcinoma | HP:0040281 - Very frequent | | | 169 | | |
HP:0100530 | HP:0003528 | Elevated calcitonin | 1 | CDKN1A CL E G H | 1026 | 1784 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040284 - Very rare | | | 2 | | |
HP:0100530 | HP:0003528 | Elevated calcitonin | 1 | CDKN1B CL E G H | 1027 | 1785 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040284 - Very rare | | | 102 | | |
HP:0100530 | HP:0003165 | Elevated circulating parathyroid hormone level | 1 | CDKN1B CL E G H | 1027 | 1785 | ORPHA:276152 | Multiple endocrine neoplasia type 4 | HP:0040281 - Very frequent | | | 102 | | |
HP:0100530 | HP:0003528 | Elevated calcitonin | 1 | CDKN2B CL E G H | 1030 | 1788 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040284 - Very rare | | | 1 | | |
HP:0100530 | HP:0003528 | Elevated calcitonin | 1 | CDKN2C CL E G H | 1031 | 1789 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040284 - Very rare | | | | | |
HP:0100530 | HP:0003165 | Elevated circulating parathyroid hormone level | 1 | CLDN16 CL E G H | 10686 | 2037 | OMIM:248250 | Hypomagnesemia 3, renal | | | | 58 | | |
HP:0100530 | HP:0003165 | Elevated circulating parathyroid hormone level | 1 | CYP27B1 CL E G H | 1594 | 2606 | ORPHA:289157 | Hypocalcemic vitamin D-dependent rickets | HP:0040281 - Very frequent | | | 41 | | |
HP:0100530 | HP:0003165 | Elevated circulating parathyroid hormone level | 1 | CYP27B1 CL E G H | 1594 | 2606 | OMIM:264700 | Vitamin D hydroxylation-deficient rickets, type 1A | . | | | 41 | | |
HP:0100530 | HP:0003165 | Elevated circulating parathyroid hormone level | 1 | CYP2R1 CL E G H | 120227 | 20580 | ORPHA:289157 | Hypocalcemic vitamin D-dependent rickets | HP:0040281 - Very frequent | | | 5 | | |
HP:0100530 | HP:0003165 | Elevated circulating parathyroid hormone level | 1 | CYP3A4 CL E G H | 1576 | 2637 | OMIM:619073 | VITAMIN D-DEPENDENT RICKETS, TYPE 3; VDDR3 | | | | 2 | | |
HP:0100530 | HP:0003528 | Elevated calcitonin | 1 | DLST CL E G H | 1743 | 2911 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040283 - Occasional | | | | | |
HP:0100530 | HP:0003528 | Elevated calcitonin | 1 | FH CL E G H | 2271 | 3700 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040283 - Occasional | | | 301 | | |
HP:0100530 | HP:0003165 | Elevated circulating parathyroid hormone level | 1 | GCM2 CL E G H | 9247 | 4198 | ORPHA:99879 | Familial isolated hyperparathyroidism | HP:0040281 - Very frequent | | | 51 | | |
HP:0100530 | HP:0031817 | Decreased circulating parathyroid hormone level | 1 | GCM2 CL E G H | 9247 | 4198 | OMIM:618883 | HYPOPARATHYROIDISM, FAMILIAL ISOLATED, 2; FIH2 | | | | 51 | | |
HP:0100530 | HP:0003528 | Elevated calcitonin | 1 | GNAS CL E G H | 2778 | 4392 | ORPHA:79443 | Pseudohypoparathyroidism type 1A | HP:0040284 - Very rare | | | 101 | | |
HP:0100530 | HP:0003165 | Elevated circulating parathyroid hormone level | 1 | GNAS CL E G H | 2778 | 4392 | ORPHA:79443 | Pseudohypoparathyroidism type 1A | HP:0040281 - Very frequent | | | 101 | | |
HP:0100530 | HP:0003165 | Elevated circulating parathyroid hormone level | 1 | GNAS CL E G H | 2778 | 4392 | ORPHA:94089 | Pseudohypoparathyroidism type 1B | HP:0040281 - Very frequent | | | 101 | | |
HP:0100530 | HP:0003165 | Elevated circulating parathyroid hormone level | 1 | GNAS CL E G H | 2778 | 4392 | ORPHA:79444 | Pseudohypoparathyroidism type 1C | HP:0040281 - Very frequent | | | 101 | | |
HP:0100530 | HP:0003165 | Elevated circulating parathyroid hormone level | 1 | GNAS CL E G H | 2778 | 4392 | OMIM:103580 | Pseudohypoparathyroidism, type IA | . | | | 101 | | |
HP:0100530 | HP:0003165 | Elevated circulating parathyroid hormone level | 1 | GNAS CL E G H | 2778 | 4392 | OMIM:603233 | Pseudohypoparathyroidism, type IB | . | | | 101 | | |
HP:0100530 | HP:0003165 | Elevated circulating parathyroid hormone level | 1 | GNAS CL E G H | 2778 | 4392 | OMIM:612462 | Pseudohypoparathyroidism, type IC | . | | | 101 | | |
HP:0100530 | HP:0003165 | Elevated circulating parathyroid hormone level | 1 | GNAS-AS1 CL E G H | 149775 | 24872 | OMIM:603233 | Pseudohypoparathyroidism, type IB | . | | | 1 | | |
HP:0100530 | HP:0003528 | Elevated calcitonin | 1 | KIF1B CL E G H | 23095 | 16636 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040283 - Occasional | | | 202 | | |
HP:0100530 | HP:0003165 | Elevated circulating parathyroid hormone level | 1 | KL CL E G H | 9365 | 6344 | OMIM:617994 | TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 3; HFTC3 | | | | 68 | | |
HP:0100530 | HP:0003528 | Elevated calcitonin | 1 | MAX CL E G H | 4149 | 6913 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040283 - Occasional | | | 84 | | |
HP:0100530 | HP:0003528 | Elevated calcitonin | 1 | MDH2 CL E G H | 4191 | 6971 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040283 - Occasional | | | 4 | | |
HP:0100530 | HP:0003165 | Elevated circulating parathyroid hormone level | 1 | MEN1 CL E G H | 4221 | 7010 | ORPHA:99879 | Familial isolated hyperparathyroidism | HP:0040281 - Very frequent | | | 462 | | |
HP:0100530 | HP:0003528 | Elevated calcitonin | 1 | MEN1 CL E G H | 4221 | 7010 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040284 - Very rare | | | 462 | | |
HP:0100530 | HP:0003165 | Elevated circulating parathyroid hormone level | 1 | NF1 CL E G H | 4763 | 7765 | ORPHA:97685 | 17q11 microdeletion syndrome | HP:0040283 - Occasional | | | 1952 | | |
HP:0100530 | HP:0003528 | Elevated calcitonin | 1 | NF1 CL E G H | 4763 | 7765 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040283 - Occasional | | | 1952 | | |
HP:0100530 | HP:0003528 | Elevated calcitonin | 1 | PDE4D CL E G H | 5144 | 8783 | ORPHA:280651 | Acrodysostosis with multiple hormone resistance | HP:0040281 - Very frequent | | | 113 | | |
HP:0100530 | HP:0003165 | Elevated circulating parathyroid hormone level | 1 | PDE4D CL E G H | 5144 | 8783 | ORPHA:280651 | Acrodysostosis with multiple hormone resistance | HP:0040281 - Very frequent | | | 113 | | |
HP:0100530 | HP:0003165 | Elevated circulating parathyroid hormone level | 1 | PDE4D CL E G H | 5144 | 8783 | ORPHA:439822 | PDE4D haploinsufficiency syndrome | HP:0040283 - Occasional | | | 113 | | |
HP:0100530 | HP:0003165 | Elevated circulating parathyroid hormone level | 1 | PHEX CL E G H | 5251 | 8918 | OMIM:307800 | Hypophosphatemic rickets, X-linked dominant | . | | | 217 | | |
HP:0100530 | HP:0003528 | Elevated calcitonin | 1 | PRKAR1A CL E G H | 5573 | 9388 | OMIM:101800 | Acrodysostosis 1, with or without hormone resistance | | | | 134 | | |
HP:0100530 | HP:0003165 | Elevated circulating parathyroid hormone level | 1 | PRKAR1A CL E G H | 5573 | 9388 | OMIM:101800 | Acrodysostosis 1, with or without hormone resistance | | | | 134 | | |
HP:0100530 | HP:0003165 | Elevated circulating parathyroid hormone level | 1 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:280651 | Acrodysostosis with multiple hormone resistance | HP:0040281 - Very frequent | | | 134 | | |
HP:0100530 | HP:0003528 | Elevated calcitonin | 1 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:280651 | Acrodysostosis with multiple hormone resistance | HP:0040281 - Very frequent | | | 134 | | |
HP:0100530 | HP:0031817 | Decreased circulating parathyroid hormone level | 1 | PTH CL E G H | 5741 | 9606 | OMIM:146200 | Hypoparathyroidism, familial isolated | | | | 16 | | |
HP:0100530 | HP:0003528 | Elevated calcitonin | 1 | RET CL E G H | 5979 | 9967 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040283 - Occasional | | | 572 | | |
HP:0100530 | HP:0003528 | Elevated calcitonin | 1 | RET CL E G H | 5979 | 9967 | OMIM:171400 | Multiple endocrine neoplasia, type IIA | . | | | 572 | | |
HP:0100530 | HP:0003528 | Elevated calcitonin | 1 | RET CL E G H | 5979 | 9967 | OMIM:162300 | Multiple endocrine neoplasia, type IIB | . | | | 572 | | |
HP:0100530 | HP:0003528 | Elevated calcitonin | 1 | SDHA CL E G H | 6389 | 10680 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040283 - Occasional | | | 304 | | |
HP:0100530 | HP:0003528 | Elevated calcitonin | 1 | SDHAF2 CL E G H | 54949 | 26034 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040283 - Occasional | | | 55 | | |
HP:0100530 | HP:0003528 | Elevated calcitonin | 1 | SDHB CL E G H | 6390 | 10681 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040283 - Occasional | | | 237 | | |
HP:0100530 | HP:0003528 | Elevated calcitonin | 1 | SDHC CL E G H | 6391 | 10682 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040283 - Occasional | | | 147 | | |
HP:0100530 | HP:0003528 | Elevated calcitonin | 1 | SDHD CL E G H | 6392 | 10683 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040283 - Occasional | | | 129 | | |
HP:0100530 | HP:0003528 | Elevated calcitonin | 1 | SLC25A11 CL E G H | 8402 | 10981 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040283 - Occasional | | | | | |
HP:0100530 | HP:0031817 | Decreased circulating parathyroid hormone level | 1 | SLC34A1 CL E G H | 6569 | 11019 | ORPHA:157215 | Hereditary hypophosphatemic rickets with hypercalciuria | HP:0040281 - Very frequent | | | 47 | | |
HP:0100530 | HP:0031817 | Decreased circulating parathyroid hormone level | 1 | SLC34A3 CL E G H | 142680 | 20305 | ORPHA:157215 | Hereditary hypophosphatemic rickets with hypercalciuria | HP:0040281 - Very frequent | | | 52 | | |
HP:0100530 | HP:0003165 | Elevated circulating parathyroid hormone level | 1 | SOST CL E G H | 50964 | 13771 | OMIM:122860 | Craniodiaphyseal dysplasia, autosomal dominant | . | | | 26 | | |
HP:0100530 | HP:0003165 | Elevated circulating parathyroid hormone level | 1 | STX16 CL E G H | 8675 | 11431 | ORPHA:94089 | Pseudohypoparathyroidism type 1B | HP:0040281 - Very frequent | | | 86 | | |
HP:0100530 | HP:0003165 | Elevated circulating parathyroid hormone level | 1 | STX16 CL E G H | 8675 | 11431 | OMIM:603233 | Pseudohypoparathyroidism, type IB | . | | | 86 | | |
HP:0100530 | HP:0031817 | Decreased circulating parathyroid hormone level | 1 | TBX1 CL E G H | 6899 | 11592 | OMIM:188400 | Digeorge syndrome | | | | 32 | | |
HP:0100530 | HP:0003528 | Elevated calcitonin | 1 | TMEM127 CL E G H | 55654 | 26038 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040283 - Occasional | | | 131 | | |
HP:0100530 | HP:0003165 | Elevated circulating parathyroid hormone level | 1 | VDR CL E G H | 7421 | 12679 | OMIM:277440 | Vitamin d-dependent rickets, type 2A | . | | | 104 | | |
HP:0100530 | HP:0003528 | Elevated calcitonin | 1 | VHL CL E G H | 7428 | 12687 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040283 - Occasional | | | 490 | | |