ZFIN Human Disease: brachyolmia-amelogenesis imperfecta syndrome

OBO ID: DOID:0090143

Term Name:	brachyolmia-amelogenesis imperfecta syndrome		Search Ontology:
Synonyms:	DASS dental anomalies and short stature platyspondyly with amelogenesis imperfecta selective tooth agenesis 5 STHAG6
Definition:	A syndrome characterized by skeletal dysplasia (broad ilia, elongated femoral necks with coxa valga, scoliosis), mild platyspondyly, short trunked short stature, and amelogenesis imperfecta that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the latent transforming growth factor beta binding protein 3 gene (LTBP3) on chromosome 11q13. (2)
References:	GARD:5478 ICD10CM:Q76.3 OMIM:601216 ORDO:2899
Ontology:	Human Disease ( DOID:0090143 )

Relationships

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

OTHER brachyolmia-amelogenesis imperfecta syndrome PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
LTBP3	ltbp3	Dental anomalies and short stature	601216

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None