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:0002655 | HP:0002655 | Spondyloepiphyseal dysplasia | 0 | ACAN CL E G H | 176 | 319 | ORPHA:93283 | Spondyloepiphyseal dysplasia, Kimberley type | HP:0040281 - Very frequent | | | 34 | | |
HP:0002655 | HP:0002655 | Spondyloepiphyseal dysplasia | 0 | ACAN CL E G H | 176 | 319 | OMIM:608361 | Spondyloepiphyseal dysplasia, Kimberley type | . | | | 34 | | |
HP:0002655 | HP:0002655 | Spondyloepiphyseal dysplasia | 0 | CCN6 CL E G H | 8838 | 12771 | ORPHA:1159 | Progressive pseudorheumatoid arthropathy of childhood | HP:0040281 - Very frequent | | | | | |
HP:0002655 | HP:0002655 | Spondyloepiphyseal dysplasia | 0 | CHST3 CL E G H | 9469 | 1971 | OMIM:143095 | Spondyloepiphyseal dysplasia with congenital joint dislocations | . | | | 165 | | |
HP:0002655 | HP:0002655 | Spondyloepiphyseal dysplasia | 0 | COL11A1 CL E G H | 1301 | 2186 | OMIM:604841 | Stickler syndrome, type II | . | | | 215 | | |
HP:0002655 | HP:0002655 | Spondyloepiphyseal dysplasia | 0 | COL2A1 CL E G H | 1280 | 2200 | OMIM:183900 | Spondyloepiphyseal dysplasia congenita | | | | 284 | | |
HP:0002655 | HP:0002655 | Spondyloepiphyseal dysplasia | 0 | COL2A1 CL E G H | 1280 | 2200 | OMIM:616583 | Spondyloepiphyseal dysplasia, Stanescu type | . | | | 284 | | |
HP:0002655 | HP:0002655 | Spondyloepiphyseal dysplasia | 0 | COL2A1 CL E G H | 1280 | 2200 | OMIM:271700 | Spondyloperipheral dysplasia | . | | | 284 | | |
HP:0002655 | HP:0002655 | Spondyloepiphyseal dysplasia | 0 | COL2A1 CL E G H | 1280 | 2200 | OMIM:108300 | Stickler syndrome, type I | . | | | 284 | | |
HP:0002655 | HP:0002655 | Spondyloepiphyseal dysplasia | 0 | IARS2 CL E G H | 55699 | 29685 | ORPHA:436174 | Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome | HP:0040281 - Very frequent | | | 25 | | |
HP:0002655 | HP:0002655 | Spondyloepiphyseal dysplasia | 0 | MBTPS1 CL E G H | 8720 | 15456 | OMIM:618392 | Spondyloepiphyseal dysplasia, Kondo-Fu type | . | | | | | |
HP:0002655 | HP:0002655 | Spondyloepiphyseal dysplasia | 0 | NMNAT1 CL E G H | 64802 | 17877 | OMIM:619260 | SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS; SHILCA | | | | 15 | | |
HP:0002655 | HP:0002655 | Spondyloepiphyseal dysplasia | 0 | RNU4ATAC CL E G H | 100151683 | 34016 | OMIM:616651 | Roifman syndrome | . | | | 15 | | |
HP:0002655 | HP:0002655 | Spondyloepiphyseal dysplasia | 0 | RNU4ATAC CL E G H | 100151683 | 34016 | ORPHA:353298 | Roifman syndrome | HP:0040282 - Frequent | | | 15 | | |
HP:0002655 | HP:0002655 | Spondyloepiphyseal dysplasia | 0 | RPL10 CL E G H | 6134 | 10298 | OMIM:300998 | MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35 | | | | 10 | | |
HP:0002655 | HP:0002655 | Spondyloepiphyseal dysplasia | 0 | RPL10 CL E G H | 6134 | 10298 | ORPHA:459070 | X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome | HP:0040282 - Frequent | | | 10 | | |
HP:0002655 | HP:0002655 | Spondyloepiphyseal dysplasia | 0 | SMARCAL1 CL E G H | 50485 | 11102 | OMIM:242900 | Immunoosseous dysplasia, Schimke type | . | | | 74 | | |
HP:0002655 | HP:0002655 | Spondyloepiphyseal dysplasia | 0 | SMARCAL1 CL E G H | 50485 | 11102 | ORPHA:1830 | Schimke immuno-osseous dysplasia | HP:0040282 - Frequent | | | 74 | | |
HP:0002655 | HP:0002655 | Spondyloepiphyseal dysplasia | 0 | TRAPPC2 CL E G H | 6399 | 23068 | OMIM:313400 | Spondyloepiphyseal dysplasia tarda, X-linked | . | | | 46 | | |
HP:0002655 | HP:0002655 | Spondyloepiphyseal dysplasia | 0 | TRPV4 CL E G H | 59341 | 18083 | OMIM:184095 | Spondyloepiphyseal dysplasia, Maroteaux type | . | | | 214 | | |