Search Ontology:
Human Disease

anauxetic dysplasia 3

Term ID
DOID:0080963
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 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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