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:0100685 | HP:0100685 | Abnormal Sharpey fiber morphology | 0 | ALPL CL E G H | 249 | 438 | OMIM:146300 | Hypophosphatasia, adult | | | | 126 | | |
HP:0100685 | HP:0100685 | Abnormal Sharpey fiber morphology | 0 | ANKH CL E G H | 56172 | 15492 | OMIM:118600 | Chondrocalcinosis 2 | | | | 164 | | |
HP:0100685 | HP:0100685 | Abnormal Sharpey fiber morphology | 0 | ANKH CL E G H | 56172 | 15492 | ORPHA:1416 | Familial calcium pyrophosphate deposition | | | | 164 | | |
HP:0100685 | HP:0100685 | Abnormal Sharpey fiber morphology | 0 | ANKRD55 CL E G H | 79722 | 25681 | ORPHA:85408 | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | | | | | | |
HP:0100685 | HP:0100685 | Abnormal Sharpey fiber morphology | 0 | AP2S1 CL E G H | 1175 | 565 | OMIM:600740 | Hypocalciuric hypercalcemia, familial, type III | | | | 6 | | |
HP:0100685 | HP:0100685 | Abnormal Sharpey fiber morphology | 0 | ATP7A CL E G H | 538 | 869 | ORPHA:565 | Menkes disease | | | | 192 | | |
HP:0100685 | HP:0100685 | Abnormal Sharpey fiber morphology | 0 | ATP7B CL E G H | 540 | 870 | OMIM:277900 | Wilson disease | | | | 315 | | |
HP:0100685 | HP:0100685 | Abnormal Sharpey fiber morphology | 0 | CD247 CL E G H | 919 | 1677 | ORPHA:85408 | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | | | | 8 | | |
HP:0100685 | HP:0100685 | Abnormal Sharpey fiber morphology | 0 | CDC73 CL E G H | 79577 | 16783 | ORPHA:99879 | Familial isolated hyperparathyroidism | | | | 169 | | |
HP:0100685 | HP:0100685 | Abnormal Sharpey fiber morphology | 0 | CDC73 CL E G H | 79577 | 16783 | ORPHA:99880 | Hyperparathyroidism-jaw tumor syndrome | | | | 169 | | |
HP:0100685 | HP:0100685 | Abnormal Sharpey fiber morphology | 0 | CDC73 CL E G H | 79577 | 16783 | ORPHA:143 | Parathyroid carcinoma | | | | 169 | | |
HP:0100685 | HP:0100685 | Abnormal Sharpey fiber morphology | 0 | CLCNKB CL E G H | 1188 | 2027 | ORPHA:358 | Gitelman syndrome | | | | 27 | | |
HP:0100685 | HP:0100685 | Abnormal Sharpey fiber morphology | 0 | DMP1 CL E G H | 1758 | 2932 | ORPHA:289176 | Autosomal recessive hypophosphatemic rickets | | | | 48 | | |
HP:0100685 | HP:0100685 | Abnormal Sharpey fiber morphology | 0 | ENPP1 CL E G H | 5167 | 3356 | ORPHA:289176 | Autosomal recessive hypophosphatemic rickets | | | | 151 | | |
HP:0100685 | HP:0100685 | Abnormal Sharpey fiber morphology | 0 | FXYD2 CL E G H | 486 | 4026 | OMIM:154020 | Hypomagnesemia 2, renal | | | | 17 | | |
HP:0100685 | HP:0100685 | Abnormal Sharpey fiber morphology | 0 | GCM2 CL E G H | 9247 | 4198 | ORPHA:99879 | Familial isolated hyperparathyroidism | | | | 51 | | |
HP:0100685 | HP:0100685 | Abnormal Sharpey fiber morphology | 0 | GNA11 CL E G H | 2767 | 4379 | OMIM:145981 | Hypocalciuric hypercalcemia, familial, type II | | | | 16 | | |
HP:0100685 | HP:0100685 | Abnormal Sharpey fiber morphology | 0 | HLA-B CL E G H | 3106 | 4932 | ORPHA:29207 | Reactive arthritis | | | | 4 | | |
HP:0100685 | HP:0100685 | Abnormal Sharpey fiber morphology | 0 | HLA-B CL E G H | 3106 | 4932 | OMIM:106300 | Spondyloarthropathy, susceptibility to, 1 | | | | 4 | | |
HP:0100685 | HP:0100685 | Abnormal Sharpey fiber morphology | 0 | HYAL1 CL E G H | 3373 | 5320 | OMIM:601492 | Mucopolysaccharidosis type IX | | | | 28 | | |
HP:0100685 | HP:0100685 | Abnormal Sharpey fiber morphology | 0 | IL2RA CL E G H | 3559 | 6008 | ORPHA:85408 | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | | | | 65 | | |
HP:0100685 | HP:0100685 | Abnormal Sharpey fiber morphology | 0 | IL2RB CL E G H | 3560 | 6009 | ORPHA:85408 | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | | | | | | |
HP:0100685 | HP:0100685 | Abnormal Sharpey fiber morphology | 0 | KCNJ1 CL E G H | 3758 | 6255 | OMIM:241200 | Bartter syndrome, antenatal, type 2 | | | | 51 | | |
HP:0100685 | HP:0100685 | Abnormal Sharpey fiber morphology | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:79474 | Atypical Werner syndrome | | | | 645 | | |
HP:0100685 | HP:0100685 | Abnormal Sharpey fiber morphology | 0 | MEFV CL E G H | 4210 | 6998 | ORPHA:329967 | Intermittent hydrarthrosis | | | | 281 | | |
HP:0100685 | HP:0100685 | Abnormal Sharpey fiber morphology | 0 | MEN1 CL E G H | 4221 | 7010 | ORPHA:99879 | Familial isolated hyperparathyroidism | | | | 462 | | |
HP:0100685 | HP:0100685 | Abnormal Sharpey fiber morphology | 0 | NOTCH3 CL E G H | 4854 | 7883 | ORPHA:2591 | Infantile myofibromatosis | | | | 144 | | |
HP:0100685 | HP:0100685 | Abnormal Sharpey fiber morphology | 0 | PDGFRB CL E G H | 5159 | 8804 | ORPHA:2591 | Infantile myofibromatosis | | | | 28 | | |
HP:0100685 | HP:0100685 | Abnormal Sharpey fiber morphology | 0 | PHEX CL E G H | 5251 | 8918 | ORPHA:89936 | X-linked hypophosphatemia | | | | 217 | | |
HP:0100685 | HP:0100685 | Abnormal Sharpey fiber morphology | 0 | PTPN2 CL E G H | 5771 | 9650 | ORPHA:85408 | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | | | | | | |
HP:0100685 | HP:0100685 | Abnormal Sharpey fiber morphology | 0 | PTPN22 CL E G H | 26191 | 9652 | ORPHA:85408 | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | | | | 3 | | |
HP:0100685 | HP:0100685 | Abnormal Sharpey fiber morphology | 0 | SLC12A1 CL E G H | 6557 | 10910 | OMIM:601678 | Bartter syndrome, type 1, antenatal | | | | 75 | | |
HP:0100685 | HP:0100685 | Abnormal Sharpey fiber morphology | 0 | SLC12A3 CL E G H | 6559 | 10912 | OMIM:263800 | Gitelman syndrome | | | | 145 | | |
HP:0100685 | HP:0100685 | Abnormal Sharpey fiber morphology | 0 | SLC12A3 CL E G H | 6559 | 10912 | ORPHA:358 | Gitelman syndrome | | | | 145 | | |
HP:0100685 | HP:0100685 | Abnormal Sharpey fiber morphology | 0 | STAT4 CL E G H | 6775 | 11365 | ORPHA:85408 | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | | | | 2 | | |
HP:0100685 | HP:0100685 | Abnormal Sharpey fiber morphology | 0 | TNFRSF11B CL E G H | 4982 | 11909 | ORPHA:1416 | Familial calcium pyrophosphate deposition | | | | 44 | | |
HP:0100685 | HP:0100685 | Abnormal Sharpey fiber morphology | 0 | TNFRSF1A CL E G H | 7132 | 11916 | ORPHA:329967 | Intermittent hydrarthrosis | | | | 131 | | |
HP:0100685 | HP:0100685 | Abnormal Sharpey fiber morphology | 0 | WRN CL E G H | 7486 | 12791 | ORPHA:902 | Werner syndrome | | | | 310 | | |
HP:0100685 | HP:0000934 | Chondrocalcinosis | 1 | ALPL CL E G H | 249 | 438 | OMIM:146300 | Hypophosphatasia, adult | . | | | 126 | | |
HP:0100685 | HP:0000934 | Chondrocalcinosis | 1 | ANKH CL E G H | 56172 | 15492 | OMIM:118600 | Chondrocalcinosis 2 | | | | 164 | | |
HP:0100685 | HP:0000934 | Chondrocalcinosis | 1 | ANKH CL E G H | 56172 | 15492 | ORPHA:1416 | Familial calcium pyrophosphate deposition | HP:0040283 - Occasional | | | 164 | | |
HP:0100685 | HP:0100686 | Enthesitis | 1 | ANKRD55 CL E G H | 79722 | 25681 | ORPHA:85408 | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | HP:0040282 - Frequent | | | | | |
HP:0100685 | HP:0000934 | Chondrocalcinosis | 1 | AP2S1 CL E G H | 1175 | 565 | OMIM:600740 | Hypocalciuric hypercalcemia, familial, type III | . | | | 6 | | |
HP:0100685 | HP:0000934 | Chondrocalcinosis | 1 | ATP7A CL E G H | 538 | 869 | ORPHA:565 | Menkes disease | HP:0040283 - Occasional | | | 192 | | |
HP:0100685 | HP:0000934 | Chondrocalcinosis | 1 | ATP7B CL E G H | 540 | 870 | OMIM:277900 | Wilson disease | . | | | 315 | | |
HP:0100685 | HP:0100686 | Enthesitis | 1 | CD247 CL E G H | 919 | 1677 | ORPHA:85408 | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | HP:0040282 - Frequent | | | 8 | | |
HP:0100685 | HP:0000934 | Chondrocalcinosis | 1 | CDC73 CL E G H | 79577 | 16783 | ORPHA:99879 | Familial isolated hyperparathyroidism | HP:0040281 - Very frequent | | | 169 | | |
HP:0100685 | HP:0000934 | Chondrocalcinosis | 1 | CDC73 CL E G H | 79577 | 16783 | ORPHA:99880 | Hyperparathyroidism-jaw tumor syndrome | HP:0040283 - Occasional | | | 169 | | |
HP:0100685 | HP:0000934 | Chondrocalcinosis | 1 | CDC73 CL E G H | 79577 | 16783 | ORPHA:143 | Parathyroid carcinoma | HP:0040283 - Occasional | | | 169 | | |
HP:0100685 | HP:0000934 | Chondrocalcinosis | 1 | CLCNKB CL E G H | 1188 | 2027 | ORPHA:358 | Gitelman syndrome | HP:0040284 - Very rare | | | 27 | | |
HP:0100685 | HP:0100686 | Enthesitis | 1 | DMP1 CL E G H | 1758 | 2932 | ORPHA:289176 | Autosomal recessive hypophosphatemic rickets | HP:0040282 - Frequent | | | 48 | | |
HP:0100685 | HP:0100686 | Enthesitis | 1 | ENPP1 CL E G H | 5167 | 3356 | ORPHA:289176 | Autosomal recessive hypophosphatemic rickets | HP:0040282 - Frequent | | | 151 | | |
HP:0100685 | HP:0000934 | Chondrocalcinosis | 1 | FXYD2 CL E G H | 486 | 4026 | OMIM:154020 | Hypomagnesemia 2, renal | . | | | 17 | | |
HP:0100685 | HP:0000934 | Chondrocalcinosis | 1 | GCM2 CL E G H | 9247 | 4198 | ORPHA:99879 | Familial isolated hyperparathyroidism | HP:0040281 - Very frequent | | | 51 | | |
HP:0100685 | HP:0000934 | Chondrocalcinosis | 1 | GNA11 CL E G H | 2767 | 4379 | OMIM:145981 | Hypocalciuric hypercalcemia, familial, type II | . | | | 16 | | |
HP:0100685 | HP:0100686 | Enthesitis | 1 | HLA-B CL E G H | 3106 | 4932 | ORPHA:29207 | Reactive arthritis | HP:0040281 - Very frequent | | | 4 | | |
HP:0100685 | HP:0100686 | Enthesitis | 1 | HLA-B CL E G H | 3106 | 4932 | OMIM:106300 | Spondyloarthropathy, susceptibility to, 1 | . | | | 4 | | |
HP:0100685 | HP:0000934 | Chondrocalcinosis | 1 | HYAL1 CL E G H | 3373 | 5320 | OMIM:601492 | Mucopolysaccharidosis type IX | | | | 28 | | |
HP:0100685 | HP:0100686 | Enthesitis | 1 | IL2RA CL E G H | 3559 | 6008 | ORPHA:85408 | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | HP:0040282 - Frequent | | | 65 | | |
HP:0100685 | HP:0100686 | Enthesitis | 1 | IL2RB CL E G H | 3560 | 6009 | ORPHA:85408 | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | HP:0040282 - Frequent | | | | | |
HP:0100685 | HP:0000934 | Chondrocalcinosis | 1 | KCNJ1 CL E G H | 3758 | 6255 | OMIM:241200 | Bartter syndrome, antenatal, type 2 | . | | | 51 | | |
HP:0100685 | HP:0000934 | Chondrocalcinosis | 1 | LMNA CL E G H | 4000 | 6636 | ORPHA:79474 | Atypical Werner syndrome | HP:0040281 - Very frequent | | | 645 | | |
HP:0100685 | HP:0000934 | Chondrocalcinosis | 1 | MEFV CL E G H | 4210 | 6998 | ORPHA:329967 | Intermittent hydrarthrosis | HP:0040284 - Very rare | | | 281 | | |
HP:0100685 | HP:0000934 | Chondrocalcinosis | 1 | MEN1 CL E G H | 4221 | 7010 | ORPHA:99879 | Familial isolated hyperparathyroidism | HP:0040281 - Very frequent | | | 462 | | |
HP:0100685 | HP:0000934 | Chondrocalcinosis | 1 | NOTCH3 CL E G H | 4854 | 7883 | ORPHA:2591 | Infantile myofibromatosis | HP:0040282 - Frequent | | | 144 | | |
HP:0100685 | HP:0000934 | Chondrocalcinosis | 1 | PDGFRB CL E G H | 5159 | 8804 | ORPHA:2591 | Infantile myofibromatosis | HP:0040282 - Frequent | | | 28 | | |
HP:0100685 | HP:0100686 | Enthesitis | 1 | PHEX CL E G H | 5251 | 8918 | ORPHA:89936 | X-linked hypophosphatemia | HP:0040283 - Occasional | | | 217 | | |
HP:0100685 | HP:0100686 | Enthesitis | 1 | PTPN2 CL E G H | 5771 | 9650 | ORPHA:85408 | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | HP:0040282 - Frequent | | | | | |
HP:0100685 | HP:0100686 | Enthesitis | 1 | PTPN22 CL E G H | 26191 | 9652 | ORPHA:85408 | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | HP:0040282 - Frequent | | | 3 | | |
HP:0100685 | HP:0000934 | Chondrocalcinosis | 1 | SLC12A1 CL E G H | 6557 | 10910 | OMIM:601678 | Bartter syndrome, type 1, antenatal | . | | | 75 | | |
HP:0100685 | HP:0000934 | Chondrocalcinosis | 1 | SLC12A3 CL E G H | 6559 | 10912 | OMIM:263800 | Gitelman syndrome | | | | 145 | | |
HP:0100685 | HP:0000934 | Chondrocalcinosis | 1 | SLC12A3 CL E G H | 6559 | 10912 | ORPHA:358 | Gitelman syndrome | HP:0040284 - Very rare | | | 145 | | |
HP:0100685 | HP:0100686 | Enthesitis | 1 | STAT4 CL E G H | 6775 | 11365 | ORPHA:85408 | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | HP:0040282 - Frequent | | | 2 | | |
HP:0100685 | HP:0000934 | Chondrocalcinosis | 1 | TNFRSF11B CL E G H | 4982 | 11909 | ORPHA:1416 | Familial calcium pyrophosphate deposition | HP:0040283 - Occasional | | | 44 | | |
HP:0100685 | HP:0000934 | Chondrocalcinosis | 1 | TNFRSF1A CL E G H | 7132 | 11916 | ORPHA:329967 | Intermittent hydrarthrosis | HP:0040284 - Very rare | | | 131 | | |
HP:0100685 | HP:0000934 | Chondrocalcinosis | 1 | WRN CL E G H | 7486 | 12791 | ORPHA:902 | Werner syndrome | HP:0040282 - Frequent | | | 310 | | |
HP:0100685 | HP:0005017 | Polyarticular chondrocalcinosis | 2 | ANKH CL E G H | 56172 | 15492 | OMIM:118600 | Chondrocalcinosis 2 | . | | | 164 | | |