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:0005790 | HP:0005790 | Short mandibular condyles | 0 | EDN1 CL E G H | 1906 | 3176 | ORPHA:137888 | Auriculocondylar syndrome | | | | 6 | | |
HP:0005790 | HP:0005790 | Short mandibular condyles | 0 | GNAI3 CL E G H | 2773 | 4387 | ORPHA:137888 | Auriculocondylar syndrome | | | | 2 | | |
HP:0005790 | HP:0005790 | Short mandibular condyles | 0 | GNAI3 CL E G H | 2773 | 4387 | OMIM:602483 | Auriculocondylar syndrome 1 | | | | 2 | | |
HP:0005790 | HP:0005790 | Short mandibular condyles | 0 | PLCB4 CL E G H | 5332 | 9059 | ORPHA:137888 | Auriculocondylar syndrome | | | | 82 | | |
HP:0005790 | HP:0005790 | Short mandibular condyles | 0 | PLCB4 CL E G H | 5332 | 9059 | OMIM:614669 | Auriculocondylar syndrome 2 | | | | 82 | | |
HP:0005790 | HP:0007627 | Mandibular condyle aplasia | 1 | EDN1 CL E G H | 1906 | 3176 | ORPHA:137888 | Auriculocondylar syndrome | HP:0040283 - Occasional | | | 6 | | |
HP:0005790 | HP:0007628 | Mandibular condyle hypoplasia | 1 | EDN1 CL E G H | 1906 | 3176 | ORPHA:137888 | Auriculocondylar syndrome | HP:0040281 - Very frequent | | | 6 | | |
HP:0005790 | HP:0007628 | Mandibular condyle hypoplasia | 1 | GNAI3 CL E G H | 2773 | 4387 | ORPHA:137888 | Auriculocondylar syndrome | HP:0040281 - Very frequent | | | 2 | | |
HP:0005790 | HP:0007627 | Mandibular condyle aplasia | 1 | GNAI3 CL E G H | 2773 | 4387 | ORPHA:137888 | Auriculocondylar syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0005790 | HP:0007627 | Mandibular condyle aplasia | 1 | GNAI3 CL E G H | 2773 | 4387 | OMIM:602483 | Auriculocondylar syndrome 1 | . | | | 2 | | |
HP:0005790 | HP:0007628 | Mandibular condyle hypoplasia | 1 | GNAI3 CL E G H | 2773 | 4387 | OMIM:602483 | Auriculocondylar syndrome 1 | . | | | 2 | | |
HP:0005790 | HP:0007627 | Mandibular condyle aplasia | 1 | PLCB4 CL E G H | 5332 | 9059 | ORPHA:137888 | Auriculocondylar syndrome | HP:0040283 - Occasional | | | 82 | | |
HP:0005790 | HP:0007628 | Mandibular condyle hypoplasia | 1 | PLCB4 CL E G H | 5332 | 9059 | ORPHA:137888 | Auriculocondylar syndrome | HP:0040281 - Very frequent | | | 82 | | |
HP:0005790 | HP:0007628 | Mandibular condyle hypoplasia | 1 | PLCB4 CL E G H | 5332 | 9059 | OMIM:614669 | Auriculocondylar syndrome 2 | . | | | 82 | | |
HP:0005790 | HP:0007627 | Mandibular condyle aplasia | 1 | PLCB4 CL E G H | 5332 | 9059 | OMIM:614669 | Auriculocondylar syndrome 2 | . | | | 82 | | |