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:0030307 | HP:0030307 | Flared lower limb metaphysis | 0 | COL11A2 CL E G H | 1302 | 2187 | ORPHA:1427 | Otospondylomegaepiphyseal dysplasia | | | | 222 | | |
HP:0030307 | HP:0030307 | Flared lower limb metaphysis | 0 | COMP CL E G H | 1311 | 2227 | OMIM:177170 | Pseudoachondroplasia | | | | 89 | | |
HP:0030307 | HP:0030307 | Flared lower limb metaphysis | 0 | EZH2 CL E G H | 2146 | 3527 | OMIM:277590 | Weaver syndrome | | | | 81 | | |
HP:0030307 | HP:0030307 | Flared lower limb metaphysis | 0 | POLR1A CL E G H | 25885 | 17264 | OMIM:616462 | Acrofacial dysostosis, Cincinnati type | | | | 8 | | |
HP:0030307 | HP:0030307 | Flared lower limb metaphysis | 0 | TRPV4 CL E G H | 59341 | 18083 | OMIM:156530 | Metatropic dysplasia | | | | 214 | | |
HP:0030307 | HP:0030309 | Flared distal fibular metaphysis | 1 | CL E G H | | | | | | | | | | |
HP:0030307 | HP:0030308 | Flared distal tibial metaphysis | 1 | CL E G H | | | | | | | | | | |
HP:0030307 | HP:0002834 | Flared femoral metaphysis | 1 | COL11A2 CL E G H | 1302 | 2187 | ORPHA:1427 | Otospondylomegaepiphyseal dysplasia | HP:0040283 - Occasional | | | 222 | | |
HP:0030307 | HP:0002834 | Flared femoral metaphysis | 1 | COMP CL E G H | 1311 | 2227 | OMIM:177170 | Pseudoachondroplasia | | | | 89 | | |
HP:0030307 | HP:0002834 | Flared femoral metaphysis | 1 | EZH2 CL E G H | 2146 | 3527 | OMIM:277590 | Weaver syndrome | . | | | 81 | | |
HP:0030307 | HP:0002834 | Flared femoral metaphysis | 1 | TRPV4 CL E G H | 59341 | 18083 | OMIM:156530 | Metatropic dysplasia | . | | | 214 | | |