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:0008788 | HP:0008788 | Delayed pubic bone ossification | 0 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:93296 | Achondrogenesis type 2 | HP:0040282 - Frequent | | | 284 | | |
HP:0008788 | HP:0008788 | Delayed pubic bone ossification | 0 | COL2A1 CL E G H | 1280 | 2200 | OMIM:184250 | Spondyloepimetaphyseal dysplasia, Strudwick type | . | | | 284 | | |
HP:0008788 | HP:0008788 | Delayed pubic bone ossification | 0 | COL2A1 CL E G H | 1280 | 2200 | OMIM:183900 | Spondyloepiphyseal dysplasia congenita | . | | | 284 | | |
HP:0008788 | HP:0008788 | Delayed pubic bone ossification | 0 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:1856 | Spondyloperipheral dysplasia-short ulna syndrome | HP:0040282 - Frequent | | | 284 | | |
HP:0008788 | HP:0008788 | Delayed pubic bone ossification | 0 | GJB2 CL E G H | 2706 | 4284 | ORPHA:477 | KID syndrome | | | | 199 | | |
HP:0008788 | HP:0008788 | Delayed pubic bone ossification | 0 | GJB6 CL E G H | 10804 | 4288 | ORPHA:477 | KID syndrome | | | | 56 | | |
HP:0008788 | HP:0008788 | Delayed pubic bone ossification | 0 | NKX3-2 CL E G H | 579 | 951 | OMIM:613330 | Spondylo-Megaepiphyseal-Metaphyseal dysplasia | . | | | 10 | | |
HP:0008788 | HP:0008788 | Delayed pubic bone ossification | 0 | RUNX2 CL E G H | 860 | 10472 | OMIM:119600 | Cleidocranial dysplasia | . | | | 90 | | |
HP:0008788 | HP:0008788 | Delayed pubic bone ossification | 0 | SIK3 CL E G H | 23387 | 29165 | OMIM:618162 | Spondyloepimetaphyseal dysplasia, Krakow type | | | | | | |