You are using an outdated browser. Please upgrade your browser to improve your experience.
blepharocheilodontic syndrome 2
Disease Summary
Associated Targets (1)
Tbio
1
Mondo Description Any blepharo-cheilo-odontic syndrome in which the cause of the disease is a mutation in the CTNND1 gene.
Uniprot Description A form of blepharocheilodontic syndrome, a rare autosomal dominant disorder. It is characterized by lower eyelid ectropion, upper eyelid distichiasis, euryblepharon, bilateral cleft lip and palate, and features of ectodermal dysplasia, including hair anomalies, conical teeth and tooth agenesis. An additional rare manifestation is imperforate anus. There is considerable phenotypic variability among affected individuals.
Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
DOID:0080346
OMIM:617681
UMLS:C4540127
MONDO:0040503
High level summary of knowledge for a disease, including descriptions and datasource references.