Disease #00690 (SEMDSTWK (dysplasia, spondyloepimetaphyseal, Strudwick type (SEMDSTWK)), OMIM:184250)
Official abbreviation |
SEMDSTWK |
Name |
dysplasia, spondyloepimetaphyseal, Strudwick type (SEMDSTWK) |
OMIM ID |
184250 |
Human Phenotype Ontology Project (HPO) |
HPO |
Inheritance |
Autosomal dominant |
Individuals reported having this disease |
28 |
Phenotype entries for this disease |
27 |
Associated with 1 gene |
COL2A1 |
Associated tissues |
- |
Disease features |
- |
Remarks |
- |
Individuals
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