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 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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