ZFIN Human Disease: Guttmacher syndrome

OBO ID: DOID:0111544

Term Name:	Guttmacher syndrome		Search Ontology:
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 )

Relationships

is a type of:	autosomal dominant disease syndrome autosomal dominant disease syndrome Show first 5 Terms

OTHER Guttmacher syndrome PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
HOXA13	hoxa13a hoxa13b	?Guttmacher syndrome	176305

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None