Sponastrime Dysplasia
| Disease Aliases (12) | Semdsp Short-limb dwarfism with saddle nose, spinal alterations, and metaphyseal striation Spondylar and nasal alterations with striated metaphyses Short limb dwarfism with saddle nose, spinal alterations, and metaphyseal striation Sponastrime type Spondylar and nasal alterations-striated metaphyses syndrome Spondylar and nasal changes with striations of the metaphyses (sponastrime) dysplasia Spondyloepimetaphyseal dysplasia Spondyloepimetaphyseal dysplasia sponastrime type Spondyloepimetaphyseal dysplasia, sponastrime type Spondylar and nasal changes with triations of the metaphyses (sponastrime) dysplasia |
Associated Genes (1) NCBI-RefSeq: TONSL (Tonsoku like, DNA repair protein) External Links: gnomAD browser Ensembl GeneCards
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| Cross-references of Sponastrime dysplasia | OMIM | GARD | Orphanet | NCBI-GTR | NCBI-MedGen | MalaCards | MeSH | Annotations | |