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Metadata
ID DOID:0112192
Name tetraamelia syndrome 1
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.
https://pubmed.ncbi.nlm.nih.gov/14872406/
Xrefs

GARD:5148

OMIM:273395

Subsets

DO_rare_slim

Synonyms

TETAMS1 [EXACT]

tetra-amelia syndrome 1 [EXACT]

Parent Relationships

is_a tetraamelia syndrome

is_a autosomal recessive disease

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