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Metadata
ID	DOID:0112288
Name	spondyloepiphyseal dysplasia Nishimura type
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/
Xrefs	MIM:618618
Synonyms	SEDN [EXACT]
Parent Relationships	is_a autosomal dominant disease is_a spondyloepiphyseal dysplasia
Subclass Logical Relationships	has material basis in some autosomal dominant inheritance