| OBO ID: DOID:0112288 |
| Term Name: | spondyloepiphyseal dysplasia Nishimura type | Search Ontology: | |
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| Definition: | A spondyloepiphyseal dysplasia characterized by disproportionate short stature with short limbs, small hands and feet, midface hypoplasia with a small nose, mild spondylar dysplasia, delayed epiphyseal ossification of the hip and knee, and severe brachydactyly with cone-shaped phalangeal epiphyses that has_material_basis_in heterozygous gain-of-function mutation in the MIR140 gene on chromosome 16q22.1. https://pubmed.ncbi.nlm.nih.gov/30804514/ | ||
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| Ontology: | Human Disease ( DOID:0112288 ) |
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