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:0003778 | HP:0003778 | Short mandibular rami | 0 | EDN1 CL E G H | 1906 | 3176 | ORPHA:137888 | Auriculocondylar syndrome | | | | 6 | | |
HP:0003778 | HP:0003778 | Short mandibular rami | 0 | GNAI3 CL E G H | 2773 | 4387 | ORPHA:137888 | Auriculocondylar syndrome | | | | 2 | | |
HP:0003778 | HP:0003778 | Short mandibular rami | 0 | GNAI3 CL E G H | 2773 | 4387 | OMIM:602483 | Auriculocondylar syndrome 1 | | | | 2 | | |
HP:0003778 | HP:0003778 | Short mandibular rami | 0 | HMX1 CL E G H | 3166 | 5017 | OMIM:612109 | Oculoauricular syndrome | | | | 2 | | |
HP:0003778 | HP:0003778 | Short mandibular rami | 0 | KCNJ2 CL E G H | 3759 | 6263 | OMIM:170390 | Andersen cardiodysrhythmic periodic paralysis | . | | | 193 | | |
HP:0003778 | HP:0003778 | Short mandibular rami | 0 | NFIX CL E G H | 4784 | 7788 | OMIM:602535 | Marshall-Smith syndrome | . | | | 40 | | |
HP:0003778 | HP:0003778 | Short mandibular rami | 0 | PLCB4 CL E G H | 5332 | 9059 | ORPHA:137888 | Auriculocondylar syndrome | | | | 82 | | |
HP:0003778 | HP:0003778 | Short mandibular rami | 0 | PLCB4 CL E G H | 5332 | 9059 | OMIM:614669 | Auriculocondylar syndrome 2 | . | | | 82 | | |
HP:0003778 | HP:0005790 | Short mandibular condyles | 1 | EDN1 CL E G H | 1906 | 3176 | ORPHA:137888 | Auriculocondylar syndrome | | | | 6 | | |
HP:0003778 | HP:0005790 | Short mandibular condyles | 1 | GNAI3 CL E G H | 2773 | 4387 | ORPHA:137888 | Auriculocondylar syndrome | | | | 2 | | |
HP:0003778 | HP:0005790 | Short mandibular condyles | 1 | GNAI3 CL E G H | 2773 | 4387 | OMIM:602483 | Auriculocondylar syndrome 1 | | | | 2 | | |
HP:0003778 | HP:0005790 | Short mandibular condyles | 1 | PLCB4 CL E G H | 5332 | 9059 | ORPHA:137888 | Auriculocondylar syndrome | | | | 82 | | |
HP:0003778 | HP:0005790 | Short mandibular condyles | 1 | PLCB4 CL E G H | 5332 | 9059 | OMIM:614669 | Auriculocondylar syndrome 2 | | | | 82 | | |
HP:0003778 | HP:0007627 | Mandibular condyle aplasia | 2 | EDN1 CL E G H | 1906 | 3176 | ORPHA:137888 | Auriculocondylar syndrome | HP:0040283 - Occasional | | | 6 | | |
HP:0003778 | HP:0007628 | Mandibular condyle hypoplasia | 2 | EDN1 CL E G H | 1906 | 3176 | ORPHA:137888 | Auriculocondylar syndrome | HP:0040281 - Very frequent | | | 6 | | |
HP:0003778 | HP:0007627 | Mandibular condyle aplasia | 2 | GNAI3 CL E G H | 2773 | 4387 | ORPHA:137888 | Auriculocondylar syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0003778 | HP:0007628 | Mandibular condyle hypoplasia | 2 | GNAI3 CL E G H | 2773 | 4387 | ORPHA:137888 | Auriculocondylar syndrome | HP:0040281 - Very frequent | | | 2 | | |
HP:0003778 | HP:0007628 | Mandibular condyle hypoplasia | 2 | GNAI3 CL E G H | 2773 | 4387 | OMIM:602483 | Auriculocondylar syndrome 1 | . | | | 2 | | |
HP:0003778 | HP:0007627 | Mandibular condyle aplasia | 2 | GNAI3 CL E G H | 2773 | 4387 | OMIM:602483 | Auriculocondylar syndrome 1 | . | | | 2 | | |
HP:0003778 | HP:0007627 | Mandibular condyle aplasia | 2 | PLCB4 CL E G H | 5332 | 9059 | ORPHA:137888 | Auriculocondylar syndrome | HP:0040283 - Occasional | | | 82 | | |
HP:0003778 | HP:0007628 | Mandibular condyle hypoplasia | 2 | PLCB4 CL E G H | 5332 | 9059 | ORPHA:137888 | Auriculocondylar syndrome | HP:0040281 - Very frequent | | | 82 | | |
HP:0003778 | HP:0007627 | Mandibular condyle aplasia | 2 | PLCB4 CL E G H | 5332 | 9059 | OMIM:614669 | Auriculocondylar syndrome 2 | . | | | 82 | | |
HP:0003778 | HP:0007628 | Mandibular condyle hypoplasia | 2 | PLCB4 CL E G H | 5332 | 9059 | OMIM:614669 | Auriculocondylar syndrome 2 | . | | | 82 | | |