FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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Term arthrogryposis multiplex congenita-6 ID (Ontology) DOID:0070336 (Human Disease)
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.
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autosomal recessive disease__
physical disorder____________|
nervous system disease_______|
                             arthrogryposis multiplex congenita
                              |__arthrogryposis multiplex congenita-6
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MIM:619334