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Entry | Name | Description | Category | Pathway | Gene |
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H00863 | Spondylo-megaepiphyseal-metaphyseal dysplasia | Spondylo-megaepiphyseal-metaphyseal dysplasia is a rare skeletal dysplasia. Its features are disproportionate short stature. On radiograph, defective ossification of vertebral bodies, enlarged epiphyses ... | Congenital malformation | NKX3-2 [HSA:579] [KO:K09995] |
[ KEGG | DISEASE | DRUG | MEDICUS ] |