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Human Disease

Guttmacher syndrome

Term ID
DOID:0111544
Synonyms
  • autosomal dominant preaxial deficiency, postaxial polydactyly, and hypospadias
  • preaxial deficiency-postaxial polydactyly-hypospadias syndrome
Definition
A syndrome characterized by preaxial deficiencies of the hands and feet, postaxial polydactyly of the hands, and hypospadias that has_material_basis_in heterozygous mutation in the HOXA13 gene on chromosome 7p15.2. (2)
References
Ontology
Human Disease   ( DOID:0111544 )
Relationships
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Genes Involved
Zebrafish Models