OBO ID: DOID:0080963 |
Term Name: | anauxetic dysplasia 3 | Search Ontology: | |
---|---|---|---|
Synonyms: |
|
||
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 ) |
OTHER anauxetic dysplasia 3 PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
Your Input Welcome
Thank you for submitting comments. Your input has been emailed to ZFIN curators who may contact you if
additional information is required.
Oops. Something went wrong. Please try again later.