Metadata | |
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ID | DOID:0112285 |
Name | autosomal dominant spondyloepiphyseal dysplasia tarda |
Definition | A spondyloepiphyseal dysplasia tarda that has_material_basis_in heterozygous mutation in a region of chromosome 12q13. https://pubmed.ncbi.nlm.nih.gov/1353665/, https://pubmed.ncbi.nlm.nih.gov/3213464/ |
Xrefs | |
Subsets |
DO_rare_slim |
Parent Relationships |