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:0030313 | HP:0030313 | Abnormal periosteum morphology | 0 | COL1A1 CL E G H | 1277 | 2197 | ORPHA:1310 | Caffey disease | | | | 373 | | |
HP:0030313 | HP:0030313 | Abnormal periosteum morphology | 0 | COL1A1 CL E G H | 1277 | 2197 | OMIM:114000 | Caffey disease | | | | 373 | | |
HP:0030313 | HP:0030313 | Abnormal periosteum morphology | 0 | FAM20C CL E G H | 56975 | 22140 | OMIM:259775 | Raine syndrome | | | | 35 | | |
HP:0030313 | HP:0030313 | Abnormal periosteum morphology | 0 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:313855 | FGFR2-related bent bone dysplasia | | | | 175 | | |
HP:0030313 | HP:0030313 | Abnormal periosteum morphology | 0 | GALNT3 CL E G H | 2591 | 4125 | OMIM:211900 | Tumoral calcinosis, hyperphosphatemic, familial, 1 | | | | 46 | | |
HP:0030313 | HP:0030313 | Abnormal periosteum morphology | 0 | IL1RN CL E G H | 3557 | 6000 | OMIM:612852 | Interleukin 1 receptor antagonist deficiency | | | | 40 | | |
HP:0030313 | HP:0030313 | Abnormal periosteum morphology | 0 | KL CL E G H | 9365 | 6344 | OMIM:617994 | TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 3; HFTC3 | | | | 68 | | |
HP:0030313 | HP:0030313 | Abnormal periosteum morphology | 0 | SLCO2A1 CL E G H | 6578 | 10955 | OMIM:167100 | Hypertrophic osteoarthropathy, primary, autosomal dominant | | | | 13 | | |
HP:0030313 | HP:0030313 | Abnormal periosteum morphology | 0 | SLCO2A1 CL E G H | 6578 | 10955 | OMIM:614441 | Hypertrophic osteoarthropathy, primary, autosomal recessive 2 | | | | 13 | | |
HP:0030313 | HP:0008074 | Metatarsal periosteal thickening | 1 | CL E G H | | | | | | | | | | |
HP:0030313 | HP:0006175 | Proximal phalangeal periosteal thickening | 1 | CL E G H | | | | | | | | | | |
HP:0030313 | HP:0006465 | Periosteal thickening of long tubular bones | 1 | COL1A1 CL E G H | 1277 | 2197 | ORPHA:1310 | Caffey disease | HP:0040282 - Frequent | | | 373 | | |
HP:0030313 | HP:0006465 | Periosteal thickening of long tubular bones | 1 | COL1A1 CL E G H | 1277 | 2197 | OMIM:114000 | Caffey disease | . | | | 373 | | |
HP:0030313 | HP:0031485 | Subperiosteal bone formation | 1 | COL1A1 CL E G H | 1277 | 2197 | OMIM:114000 | Caffey disease | | | | 373 | | |
HP:0030313 | HP:0031485 | Subperiosteal bone formation | 1 | FAM20C CL E G H | 56975 | 22140 | OMIM:259775 | Raine syndrome | | | | 35 | | |
HP:0030313 | HP:0031485 | Subperiosteal bone formation | 1 | GALNT3 CL E G H | 2591 | 4125 | OMIM:211900 | Tumoral calcinosis, hyperphosphatemic, familial, 1 | . | | | 46 | | |
HP:0030313 | HP:0040165 | Periostitis | 1 | IL1RN CL E G H | 3557 | 6000 | OMIM:612852 | Interleukin 1 receptor antagonist deficiency | | | | 40 | | |
HP:0030313 | HP:0006051 | Metacarpal periosteal thickening | 1 | KL CL E G H | 9365 | 6344 | OMIM:617994 | TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 3; HFTC3 | | | | 68 | | |
HP:0030313 | HP:0006465 | Periosteal thickening of long tubular bones | 1 | SLCO2A1 CL E G H | 6578 | 10955 | OMIM:167100 | Hypertrophic osteoarthropathy, primary, autosomal dominant | | | | 13 | | |
HP:0030313 | HP:0030314 | Periostosis | 1 | SLCO2A1 CL E G H | 6578 | 10955 | OMIM:614441 | Hypertrophic osteoarthropathy, primary, autosomal recessive 2 | . | | | 13 | | |
HP:0030313 | HP:0003931 | Periosteal new bone of humeral diaphysis | 2 | CL E G H | | | | | | | | | | |
HP:0030313 | HP:0003878 | Periosteal new bone of humerus | 2 | CL E G H | | | | | | | | | | |