ZFIN Human Disease: tetraamelia syndrome 2

OBO ID: DOID:0112193

Term Name:	tetraamelia syndrome 2		Search Ontology:
Synonyms:	TETAMS2 tetra-amelia with pulmonary hypoplasia tetraamelia with pulmonary hypoplasia
Definition:	A tetraamelia syndrome characterized by rudimentary or absent appendages, bilateral agenesis of the lungs, pulmonary vascular abnormalities, and dysmorphic features that has_material_basis_in homozygous or compound heterozygous mutation in RSPO2 on chromosome 8q23.1. (2)
References:	GARD:5147 OMIM:618021
Ontology:	Human Disease ( DOID:0112193 )

Relationships

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

OTHER tetraamelia syndrome 2 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
RSPO2	rspo2	Tetraamelia syndrome 2	618021

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None