Search Ontology:
Human Disease
anauxetic dysplasia 3
- Term ID
- DOID:0080963
- Synonyms
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- Definition
- A spondyloepimetaphyseal dysplasia that is characterized by severe short stature, brachydactyly, skin laxity, joint hypermobility, and joint dislocations and that has_material_basis_in homozygous mutation in the NEPRO gene on chromosome 3q13. https://pubmed.ncbi.nlm.nih.gov/31250547/
- References
- Ontology
- Human Disease ( DOID:0080963 )
- is a type of
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Other Pages
Genes Involved
Zebrafish Models