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:0002657 | HP:0002657 | Spondylometaphyseal dysplasia | 0 | ACP5 CL E G H | 54 | 124 | OMIM:607944 | Spondyloenchondrodysplasia with immune dysregulation | . | | | 16 | | |
HP:0002657 | HP:0002657 | Spondylometaphyseal dysplasia | 0 | CFAP410 CL E G H | 755 | 1260 | OMIM:602271 | Spondylometaphyseal dysplasia, axial | . | | | | | |
HP:0002657 | HP:0002657 | Spondylometaphyseal dysplasia | 0 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:85198 | Dysspondyloenchondromatosis | HP:0040281 - Very frequent | | | 284 | | |
HP:0002657 | HP:0002657 | Spondylometaphyseal dysplasia | 0 | COL2A1 CL E G H | 1280 | 2200 | OMIM:184255 | Spondylometaphyseal dysplasia, corner Fracture type | . | | | 284 | | |
HP:0002657 | HP:0002657 | Spondylometaphyseal dysplasia | 0 | FN1 CL E G H | 2335 | 3778 | OMIM:184255 | Spondylometaphyseal dysplasia, corner Fracture type | . | | | 9 | | |
HP:0002657 | HP:0002657 | Spondylometaphyseal dysplasia | 0 | GPX4 CL E G H | 2879 | 4556 | OMIM:250220 | Spondylometaphyseal dysplasia, Sedaghatian type | . | | | 3 | | |
HP:0002657 | HP:0002657 | Spondylometaphyseal dysplasia | 0 | GPX4 CL E G H | 2879 | 4556 | ORPHA:93317 | Spondylometaphyseal dysplasia, Sedaghatian type | HP:0040281 - Very frequent | | | 3 | | |
HP:0002657 | HP:0002657 | Spondylometaphyseal dysplasia | 0 | PAM16 CL E G H | 51025 | 29679 | OMIM:613320 | Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type | . | | | 1 | | |
HP:0002657 | HP:0002657 | Spondylometaphyseal dysplasia | 0 | PCYT1A CL E G H | 5130 | 8754 | OMIM:608940 | Spondylometaphyseal dysplasia with cone-rod dystrophy | . | | | 11 | | |
HP:0002657 | HP:0002657 | Spondylometaphyseal dysplasia | 0 | TRIP11 CL E G H | 9321 | 12305 | OMIM:184260 | Osteochondrodysplasia | | | | 133 | | |
HP:0002657 | HP:0002657 | Spondylometaphyseal dysplasia | 0 | TRPV4 CL E G H | 59341 | 18083 | OMIM:184252 | Spondylometaphyseal dysplasia, Kozlowski type | . | | | 214 | | |