multiple synostoses syndrome

Term ID

DOID:0050794

Synonyms

Definition

A dysostosis that is characterized by characterized by multiple joint fusions, usually commencing in the hands, conductive deafness, and characteristic facial features, including a broad, tubular-shaped nose and a thin upper vermilion. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2706969/

References

OMIM:PS186500
ORDO:3237

Ontology

Human Disease ( DOID:0050794 )

Relationships

is a type of: autosomal dominant disease dysostosis

autosomal dominant disease dysostosis Show first 5 Terms
has subtype: multiple synostoses syndrome 1 multiple synostoses syndrome 2 multiple synostoses syndrome 3 multiple synostoses syndrome 4

multiple synostoses syndrome 1 multiple synostoses syndrome 2 multiple synostoses syndrome 3 multiple synostoses syndrome 4 Show first 5 Terms

Other Pages

Alliance (1)

Genes Involved

Zebrafish Models

Citations