Search Ontology:
Human Disease
arthrogryposis multiplex congenita-6
- Term ID
- DOID:0070336
- Synonyms
-
- Definition
- An arthrogryposis multiplex congenita characterized by congenital joint contractures, dysmorphic facial features, distal skeletal anomalies with clenched hands and clubfeet, and edema with fetal hydrops and that has_material_basis_in homozygous or compound heterozygous mutation in the NEB gene on chromosome 2q23. https://pubmed.ncbi.nlm.nih.gov/33376055/
- References
- Ontology
- Human Disease ( DOID:0070336 )
- is a type of
-
Other Pages
Genes Involved
Zebrafish Models