FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term tetraamelia syndrome 1 ID (Ontology) DOID:0112192 (Human Disease)
Definition A tetraamelia syndrome characterized by complete limb agenesis without defects of scapulae or clavicles that has_material_basis_in homozygous or compound heterozygous mutation in WNT3 on chromosome 17q21.31-q21.32.
Also Known As "TETAMS1" ; "tetra-amelia syndrome 1"
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 Genes
 tetraamelia syndrome 1       3
 for disease ribbon | tetraamelia syndrome 1       3
 model of | tetraamelia syndrome 1       3
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease__
syndrome                         |
 |__tetraamelia syndrome_________|
                                 tetraamelia syndrome 1  3 rec.
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Is a autosomal recessive disease
tetraamelia syndrome
Part of
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Synonyms
  • "TETAMS1" EXACT OMO:0003012
    "tetra-amelia syndrome 1" EXACT
Secondary IDs
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GARD:5148
MIM:273395