ZFIN Human Disease: tetraamelia syndrome 1

OBO ID: DOID:0112192

Term Name:	tetraamelia syndrome 1		Search Ontology:
Synonyms:	TETAMS1 tetra-amelia syndrome 1
Definition:	A tetraamelia syndrome characterized by complete limb agenesis without defects of scapulae or clavicles that has_material_basis_in homozygous or compound heterozygous mutation in WNT3 on chromosome 17q21.31-q21.32. https://pubmed.ncbi.nlm.nih.gov/14872406/
References:	GARD:5148 OMIM:273395
Ontology:	Human Disease (DOID:0112192)

Relationships

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

OTHER tetraamelia syndrome 1 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
WNT3	wnt3	?Tetra-amelia syndrome 1	273395

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None