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Metadata
ID DOID:0111544
Name Guttmacher 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 HOXA13 on chromosome 7p15.2.
https://www.ncbi.nlm.nih.gov/pubmed/11968094, https://www.ncbi.nlm.nih.gov/pubmed/8484413
Xrefs

GARD:4470

MESH:C538278

OMIM:176305

ORDO:2957

SNOMEDCT_US_2020_09_01:722452004

UMLS_CUI:C1867801

Synonyms

autosomal dominant preaxial deficiency, postaxial polydactyly, and hypospadias [EXACT]

preaxial deficiency-postaxial polydactyly-hypospadias syndrome [EXACT]

Parent Relationships

is_a syndrome

is_a autosomal dominant disease

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