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
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
NEPRO Anauxetic dysplasia 3 618853
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None