FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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Term Smith-McCort dysplasia 2 ID (Ontology) DOID:0081271 (Human Disease)
Definition A Smith-McCort dysplasia that is characterized by short trunk dwarfism with a barrel-shaped chest, rhizomelic limb shortening and that has_material_basis_in homozygous or compound heterozygous mutation in the RAB33B gene on chromosome 4q31.
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 Genes
 Smith-McCort dysplasia 2       2
 for disease ribbon | Smith-McCort dysplasia 2       2
 model of | Smith-McCort dysplasia 2       2
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  Dyggve-Melchior-Clausen disease
   |__Smith-McCort dysplasia
       |__Smith-McCort dysplasia 2  2 rec.
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MIM:615222