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

• GARD:4470
• MESH:C538278
• OMIM:176305
• ORDO:2957
• SNOMEDCT_US_2023_03_01:722452004
• UMLS_CUI:C1867801

Ontology

Human Disease   ( DOID:0111544 )