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:0006267 | HP:0006267 | Large placenta | 0 | DLK1 CL E G H | 8788 | 2907 | ORPHA:254534 | Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation | HP:0040281 - Very frequent | | | 1 | | |
HP:0006267 | HP:0006267 | Large placenta | 0 | DLK1 CL E G H | 8788 | 2907 | ORPHA:254528 | Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion | HP:0040282 - Frequent | | | 1 | | |
HP:0006267 | HP:0006267 | Large placenta | 0 | DLK1 CL E G H | 8788 | 2907 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | HP:0040281 - Very frequent | | | 1 | | |
HP:0006267 | HP:0006267 | Large placenta | 0 | LBR CL E G H | 3930 | 6518 | OMIM:215140 | Greenberg dysplasia | | | | 70 | | |
HP:0006267 | HP:0006267 | Large placenta | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:1662 | Restrictive dermopathy | HP:0040283 - Occasional | | | 645 | | |
HP:0006267 | HP:0006267 | Large placenta | 0 | MEG3 CL E G H | 55384 | 14575 | ORPHA:254534 | Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation | HP:0040281 - Very frequent | | | 1 | | |
HP:0006267 | HP:0006267 | Large placenta | 0 | MEG3 CL E G H | 55384 | 14575 | ORPHA:254528 | Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion | HP:0040282 - Frequent | | | 1 | | |
HP:0006267 | HP:0006267 | Large placenta | 0 | MEG3 CL E G H | 55384 | 14575 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | HP:0040281 - Very frequent | | | 1 | | |
HP:0006267 | HP:0006267 | Large placenta | 0 | MKS1 CL E G H | 54903 | 7121 | OMIM:249000 | Meckel syndrome 1 | . | | | 127 | | |
HP:0006267 | HP:0006267 | Large placenta | 0 | RTL1 CL E G H | 388015 | 14665 | ORPHA:254534 | Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation | HP:0040281 - Very frequent | | | | | |
HP:0006267 | HP:0006267 | Large placenta | 0 | RTL1 CL E G H | 388015 | 14665 | ORPHA:254528 | Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion | HP:0040282 - Frequent | | | | | |
HP:0006267 | HP:0006267 | Large placenta | 0 | RTL1 CL E G H | 388015 | 14665 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | HP:0040281 - Very frequent | | | | | |
HP:0006267 | HP:0006267 | Large placenta | 0 | SKIC3 CL E G H | 9652 | 23639 | OMIM:222470 | Trichohepatoenteric syndrome 1 | . | | | | | |
HP:0006267 | HP:0006267 | Large placenta | 0 | ZMPSTE24 CL E G H | 10269 | 12877 | ORPHA:1662 | Restrictive dermopathy | HP:0040283 - Occasional | | | 83 | | |
HP:0006267 | HP:0006267 | Large placenta | 0 | ZMPSTE24 CL E G H | 10269 | 12877 | OMIM:275210 | Restrictive dermopathy, lethal | | | | 83 | | |
HP:0006267 | HP:0011414 | Hydropic placenta | 1 | ZMPSTE24 CL E G H | 10269 | 12877 | OMIM:275210 | Restrictive dermopathy, lethal | . | | | 83 | | |