Spondyloepimetaphyseal dysplasia
Symptom Information:
| Symptom ID: | HPO:0002651 | ||
| Synonyms: |
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| Cross references: |
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| Is a (Direct Parents): |
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HPO:
All(HPO:0000001) Phenotypic abnormality(HPO:0000118) Abnormality of the skeletal system(HPO:0000924) Abnormality of skeletal morphology(HPO:0011842) Skeletal dysplasia(HPO:0002652) Spondyloepimetaphyseal dysplasia(HPO:0002651) MedDRA: |
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| Database Frequency: | 19 / 7739 | ||
| Resource: |
All diseases associated with this symptom:
| DYGGVE-MELCHIOR-CLAUSEN SYNDROME, X-LINKED | (OMIM:304950) |
| Metaphyseal anadysplasia | (Orphanet:1040) |
| Micromelic dwarfism, Fryns type | (Orphanet:2641) |
| SPONASTRIME dysplasia | (Orphanet:93357) |
| Spondyloepimetaphyseal dysplasia - abnormal dentition | (Orphanet:168451) |
| Spondyloepimetaphyseal dysplasia - hypotrichosis | (Orphanet:168443) |
| Spondyloepimetaphyseal dysplasia - short limb - abnormal calcification | (Orphanet:93358) |
| Spondyloepimetaphyseal dysplasia congenita, Strudwick type | (Orphanet:93346) |
| Spondyloepimetaphyseal dysplasia with joint laxity | (Orphanet:93359) |
| Spondyloepimetaphyseal dysplasia with multiple dislocations | (Orphanet:93360) |
| Spondyloepimetaphyseal dysplasia, Bieganski type | (Orphanet:168448) |
| Spondyloepimetaphyseal dysplasia, Geneviève type | (Orphanet:168454) |
| Spondyloepimetaphyseal dysplasia, Irapa type | (Orphanet:93351) |
| Spondyloepimetaphyseal dysplasia, Missouri type | (Orphanet:93356) |
| Spondyloepimetaphyseal dysplasia, Pakistani type | (Orphanet:93282) |
| Spondyloepimetaphyseal dysplasia, Shohat type | (Orphanet:93352) |
| Spondyloepimetaphyseal dysplasia, aggrecan type | (Orphanet:171866) |
| Spondyloepimetaphyseal dysplasia, matrilin-3 type | (Orphanet:156728) |
| X-linked spondyloepimetaphyseal dysplasia | (Orphanet:93349) |