ZFIN Human Disease: hand-foot-genital syndrome

OBO ID: DOID:0060739

Term Name:	hand-foot-genital syndrome		Search Ontology:
Synonyms:	hand-foot-uterus syndrome HFGS
Definition:	A syndrome characterized by distal limb defects (short thumbs and first toes, clinodactyly of the fifth fingers, delayed ossification of the wrist and ankle bones), urogenital defects and that has_material_basis_in heterozygous mutation in the HOXA13 gene on chromosome 7p15. (2)
References:	GARD:2594 ICD10CM:Q51.2 OMIM:140000 ORDO:2438
Ontology:	Human Disease ( DOID:0060739 )

Relationships

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

OTHER hand-foot-genital syndrome PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
HOXA13	hoxa13a hoxa13b	Hand-foot-genital syndrome	140000

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None