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:0005791 | HP:0005791 | Cortical thickening of long bone diaphyses | 0 | COL1A1 CL E G H | 1277 | 2197 | ORPHA:1310 | Caffey disease | HP:0040283 - Occasional | | | 373 | | |
HP:0005791 | HP:0005791 | Cortical thickening of long bone diaphyses | 0 | FAM111A CL E G H | 63901 | 24725 | ORPHA:93325 | Autosomal dominant Kenny-Caffey syndrome | HP:0040281 - Very frequent | | | 8 | | |
HP:0005791 | HP:0005791 | Cortical thickening of long bone diaphyses | 0 | MAN2B1 CL E G H | 4125 | 6826 | ORPHA:309282 | Alpha-mannosidosis, infantile form | HP:0040283 - Occasional | | | 136 | | |
HP:0005791 | HP:0005791 | Cortical thickening of long bone diaphyses | 0 | TBCE CL E G H | 6905 | 11582 | ORPHA:93324 | Autosomal recessive Kenny-Caffey syndrome | HP:0040282 - Frequent | | | 52 | | |
HP:0005791 | HP:0005791 | Cortical thickening of long bone diaphyses | 0 | TGFB1 CL E G H | 7040 | 11766 | ORPHA:1328 | Camurati-Engelmann disease | HP:0040281 - Very frequent | | | 13 | | |
HP:0005791 | HP:0005791 | Cortical thickening of long bone diaphyses | 0 | TGFB1 CL E G H | 7040 | 11766 | OMIM:131300 | Camurati-Engelmann disease | | | | 13 | | |