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:0002651 | HP:0002651 | Spondyloepimetaphyseal dysplasia | 0 | ACAN CL E G H | 176 | 319 | OMIM:612813 | Spondyloepimetaphyseal dysplasia, Aggrecan type | . | | | 34 | | |
HP:0002651 | HP:0002651 | Spondyloepimetaphyseal dysplasia | 0 | AIFM1 CL E G H | 9131 | 8768 | OMIM:300232 | Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration | . | | | 60 | | |
HP:0002651 | HP:0002651 | Spondyloepimetaphyseal dysplasia | 0 | B3GALT6 CL E G H | 126792 | 17978 | ORPHA:536467 | B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome | HP:0040281 - Very frequent | | | 38 | | |
HP:0002651 | HP:0002651 | Spondyloepimetaphyseal dysplasia | 0 | B3GALT6 CL E G H | 126792 | 17978 | OMIM:271640 | Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures | . | | | 38 | | |
HP:0002651 | HP:0002651 | Spondyloepimetaphyseal dysplasia | 0 | BGN CL E G H | 633 | 1044 | OMIM:300106 | Spondyloepimetaphyseal dysplasia, X-linked | . | | | 7 | | |
HP:0002651 | HP:0002651 | Spondyloepimetaphyseal dysplasia | 0 | COL2A1 CL E G H | 1280 | 2200 | OMIM:184250 | Spondyloepimetaphyseal dysplasia, Strudwick type | . | | | 284 | | |
HP:0002651 | HP:0002651 | Spondyloepimetaphyseal dysplasia | 0 | DDR2 CL E G H | 4921 | 2731 | OMIM:271665 | Spondylometaepiphyseal dysplasia, short Limb-Hand type | . | | | 45 | | |
HP:0002651 | HP:0002651 | Spondyloepimetaphyseal dysplasia | 0 | DDRGK1 CL E G H | 65992 | 16110 | OMIM:602557 | Spondyloepimetaphyseal dysplasia, Shohat type | . | | | | | |
HP:0002651 | HP:0002651 | Spondyloepimetaphyseal dysplasia | 0 | DYM CL E G H | 54808 | 21317 | ORPHA:239 | Dyggve-Melchior-Clausen disease | HP:0040281 - Very frequent | | | 65 | | |
HP:0002651 | HP:0002651 | Spondyloepimetaphyseal dysplasia | 0 | EXOC6B CL E G H | 23233 | 17085 | OMIM:618395 | Spondyloepimetaphyseal dysplasia with joint laxity, type 3 | . | | | 3 | | |
HP:0002651 | HP:0002651 | Spondyloepimetaphyseal dysplasia | 0 | IARS2 CL E G H | 55699 | 29685 | OMIM:616007 | Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia | . | | | 25 | | |
HP:0002651 | HP:0002651 | Spondyloepimetaphyseal dysplasia | 0 | KIF22 CL E G H | 3835 | 6391 | OMIM:603546 | Spondyloepimetaphyseal dysplasia with joint laxity, type 2 | . | | | 14 | | |
HP:0002651 | HP:0002651 | Spondyloepimetaphyseal dysplasia | 0 | KIF22 CL E G H | 3835 | 6391 | ORPHA:93360 | Spondyloepimetaphyseal dysplasia with multiple dislocations | HP:0040282 - Frequent | | | 14 | | |
HP:0002651 | HP:0002651 | Spondyloepimetaphyseal dysplasia | 0 | MATN3 CL E G H | 4148 | 6909 | OMIM:608728 | Spondyloepimetaphyseal dysplasia, matrilin-3 related | . | | | 32 | | |
HP:0002651 | HP:0002651 | Spondyloepimetaphyseal dysplasia | 0 | MMP13 CL E G H | 4322 | 7159 | OMIM:602111 | Spondyloepimetaphyseal dysplasia, Missouri type | . | | | 52 | | |
HP:0002651 | HP:0002651 | Spondyloepimetaphyseal dysplasia | 0 | NANS CL E G H | 54187 | 19237 | OMIM:610442 | Spondyloepimetaphyseal dysplasia, Genevieve type | . | | | 8 | | |
HP:0002651 | HP:0002651 | Spondyloepimetaphyseal dysplasia | 0 | PAPSS2 CL E G H | 9060 | 8604 | OMIM:612847 | Brachyolmia 4 with mild epiphyseal and metaphyseal changes | . | | | 20 | | |
HP:0002651 | HP:0002651 | Spondyloepimetaphyseal dysplasia | 0 | RSPRY1 CL E G H | 89970 | 29420 | ORPHA:457395 | Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome | HP:0040281 - Very frequent | | | 2 | | |
HP:0002651 | HP:0002651 | Spondyloepimetaphyseal dysplasia | 0 | TONSL CL E G H | 4796 | 7801 | OMIM:271510 | Spondyloepimetaphyseal dysplasia, Sponastrime type | . | | | | | |