Spondyloepiphyseal Dysplasia Nishimura Type
Disease ID: disease_node_15685
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| Dbxref | MIM:618618 |
|---|---|
| Subclassof | DOID_0050736, DOID_0112280 |
| Data Source | DOID |
| Synonyms | SEDN |
| Doid Label | spondyloepiphyseal dysplasia Nishimura type |
| Doid Description | 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. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_15685 |
| Doid Id | DOID_0112288 |
| Label | Spondyloepiphyseal Dysplasia Nishimura Type |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Spondyloepiphyseal Dysplasia(ID:disease_node_15684) (Disease)